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 t_alt_count t_ref_count validation_alt_allele validation_method validation_status validation_tumor_sample pox qox pox_cutoff isArtifactMode oxoGCut AFF2 2334 broad.mit.edu 37 X 148037568 148037568 + Missense_Mutation SNP G G C TCGA-CV-5441-01A-01D-1512-08 TCGA-CV-5441-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e 79ffab90-e307-45fb-a6ce-0d9aea0b7552 g.chrX:148037568G>C ENST00000370460.2 + 11 2472 c.1993G>C c.(1993-1995)Gac>Cac p.D665H AFF2_ENST00000342251.3_Missense_Mutation_p.D632H|AFF2_ENST00000286437.5_Missense_Mutation_p.D306H|AFF2_ENST00000370457.5_Missense_Mutation_p.D632H NM_001169123.1|NM_002025.3 NP_001162594.1|NP_002016.2 P51816 AFF2_HUMAN AF4/FMR2 family, member 2 665 brain development|mRNA processing|regulation of RNA splicing|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) GGAGCTTCATGACCCACCAAG 0.488000 56 45 0 0 0.870114 0 0 TRBV25-1 28562 broad.mit.edu 37 7 142378920 142378920 + RNA SNP A A C TCGA-CV-5441-01A-01D-1512-08 TCGA-CV-5441-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e 79ffab90-e307-45fb-a6ce-0d9aea0b7552 g.chr7:142378920A>C ENST00000390398.3 + 0 225 ATGGAACTACACCTCATCCAC 0.443000 47 115 0 0 0.870114 0 0 COL3A1 1281 broad.mit.edu 37 2 189852852 189852852 + Missense_Mutation SNP G G T TCGA-CV-5441-01A-01D-1512-08 TCGA-CV-5441-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e 79ffab90-e307-45fb-a6ce-0d9aea0b7552 g.chr2:189852852G>T ENST00000304636.3 + 6 744 c.574G>T c.(574-576)Ggt>Tgt p.G192C COL3A1_ENST00000317840.5_Missense_Mutation_p.G192C NM_000090.3 NP_000081.1 P02461 CO3A1_HUMAN collagen, type III, alpha 1 192 Triple-helical region. G -> V (in EDS4). 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) TGGTCATCCTGGTTCCCCTGT 0.398000 39 100 4.90776e-07 5.61036e-07 0.870114 1 0 ZNF579 163033 broad.mit.edu 37 19 56090061 56090061 + Missense_Mutation SNP C C A TCGA-CV-5441-01A-01D-1512-08 TCGA-CV-5441-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e 79ffab90-e307-45fb-a6ce-0d9aea0b7552 g.chr19:56090061C>A ENST00000325421.4 - 2 973 c.945G>T c.(943-945)caG>caT p.Q315H NM_152600.2 NP_689813.2 Q8NAF0 ZN579_HUMAN zinc finger protein 579 315 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(1)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 9 BRCA - Breast invasive adenocarcinoma(297;0.18) GBM - Glioblastoma multiforme(193;0.106) CGCGGCGGTGCTGGCGGAGGT 0.736000 3 22 1.024e-07 1.18069e-07 0.184627 1 0 OR51V1 283111 broad.mit.edu 37 11 5221655 5221655 + Silent SNP C C T TCGA-CV-5441-01A-01D-1512-08 TCGA-CV-5441-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e 79ffab90-e307-45fb-a6ce-0d9aea0b7552 g.chr11:5221655C>T ENST00000321255.1 - 1 275 c.276G>A c.(274-276)ggG>ggA p.G92G NM_001004760.2 NP_001004760.2 Q9H2C8 O51V1_HUMAN olfactory receptor, family 51, subfamily V, member 1 92 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|kidney(2)|large_intestine(13)|lung(19)|skin(2)|upper_aerodigestive_tract(2) 39 Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212) Epithelial(150;2.83e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) CCCACAGGATCCCCAGCACTG 0.547000 25 58 0 0 0.706142 0 0 SYNE1 23345 broad.mit.edu 37 6 152469434 152469434 + Missense_Mutation SNP T T A TCGA-CV-5441-01A-01D-1512-08 TCGA-CV-5441-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e 79ffab90-e307-45fb-a6ce-0d9aea0b7552 g.chr6:152469434T>A ENST00000367255.5 - 137 25323 c.24722A>T c.(24721-24723)cAc>cTc p.H8241L SYNE1_ENST00000423061.1_Missense_Mutation_p.H8170L|SYNE1_ENST00000347037.5_5'UTR|SYNE1_ENST00000356820.4_Missense_Mutation_p.H2765L|SYNE1_ENST00000539504.1_Missense_Mutation_p.H396L|SYNE1_ENST00000354674.4_Missense_Mutation_p.H396L|SYNE1_ENST00000448038.1_Missense_Mutation_p.H8170L|SYNE1_ENST00000341594.5_Missense_Mutation_p.H7853L|SYNE1_ENST00000265368.4_Missense_Mutation_p.H8241L NM_182961.3 NP_892006.3 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 8241 cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex 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) AGAGCGGTCGTGCCAGTGCAG 0.617000 HNSCC(10;0.0054) 32 75 0 0 0.870114 0 0 ATP8A2 51761 broad.mit.edu 37 13 26542750 26542750 + Missense_Mutation SNP G G C TCGA-CV-5441-01A-01D-1512-08 TCGA-CV-5441-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e 79ffab90-e307-45fb-a6ce-0d9aea0b7552 g.chr13:26542750G>C ENST00000381655.2 + 35 3452 c.3310G>C c.(3310-3312)Gtg>Ctg p.V1104L ATP8A2_ENST00000255283.8_Missense_Mutation_p.V1039L NM_016529.4 NP_057613.4 Q9NTI2 AT8A2_HUMAN ATPase, aminophospholipid transporter, class I, type 8A, member 2 1064 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 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) GCTGGAGGAGGTGCAGGAGCT 0.522000 6 11 0 0 0.307466 0 0 LINC00886 730091 broad.mit.edu 37 3 156527457 156527457 + RNA SNP C C A TCGA-CV-5441-01A-01D-1512-08 TCGA-CV-5441-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e 79ffab90-e307-45fb-a6ce-0d9aea0b7552 g.chr3:156527457C>A ENST00000472943.1 - 0 148 NR_038387.1 GGAGGAGGGCCTTTAGCTCTG 0.522000 19 40 2.35188e-11 2.85967e-11 0.539581 1 0 SLC8A3 6547 broad.mit.edu 37 14 70633591 70633591 + Missense_Mutation SNP A A G TCGA-CV-5441-01A-01D-1512-08 TCGA-CV-5441-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e 79ffab90-e307-45fb-a6ce-0d9aea0b7552 g.chr14:70633591A>G ENST00000381269.2 - 2 2302 c.1549T>C c.(1549-1551)Tgt>Cgt p.C517R SLC8A3_ENST00000528359.1_Missense_Mutation_p.C517R|SLC8A3_ENST00000356921.2_Missense_Mutation_p.C517R|SLC8A3_ENST00000534137.1_Missense_Mutation_p.C517R|SLC8A3_ENST00000357887.3_Missense_Mutation_p.C517R NM_058240.2|NM_183002.1 NP_489479.1|NP_892114.1 P57103 NAC3_HUMAN solute carrier family 8 (sodium/calcium exchanger), member 3 517 cell communication|platelet activation integral to membrane|plasma membrane calcium:sodium antiporter activity|calmodulin binding NS(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(18)|ovary(2)|pancreas(2)|prostate(3)|skin(6) 54 BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555) GTGGCCACACAAGGGGAGGCT 0.502000 27 65 0 0 0.717897 0 0 DNAH5 1767 broad.mit.edu 37 5 13735314 13735314 + Missense_Mutation SNP G G A TCGA-CV-5441-01A-01D-1512-08 TCGA-CV-5441-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e 79ffab90-e307-45fb-a6ce-0d9aea0b7552 g.chr5:13735314G>A ENST00000265104.4 - 68 11791 c.11687C>T c.(11686-11688)aCc>aTc p.T3896I NM_001369.2 NP_001360.1 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 3896 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) AAGCAACAAGGTGAACAGGAA 0.418000 Kartagener syndrome 38 90 0 0 0.827153 0 0 BPIFB4 149954 broad.mit.edu 37 20 31685548 31685548 + Silent SNP C C A TCGA-CV-5441-01A-01D-1512-08 TCGA-CV-5441-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e 79ffab90-e307-45fb-a6ce-0d9aea0b7552 g.chr20:31685548C>A ENST00000375483.3 + 11 1524 c.1524C>A c.(1522-1524)gtC>gtA p.V508V NM_182519.2 NP_872325.2 P59827 LPLC4_HUMAN BPI fold containing family B, member 4 508 cytoplasm|extracellular region lipid binding AGGTCATGGTCTCCCAGCCCA 0.572000 34 52 2.08457e-15 2.69383e-15 0.750413 1 0 TSNARE1 203062 broad.mit.edu 37 8 143381940 143381940 + Missense_Mutation SNP C C A TCGA-CV-5441-01A-01D-1512-08 TCGA-CV-5441-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e 79ffab90-e307-45fb-a6ce-0d9aea0b7552 g.chr8:143381940C>A ENST00000519651.1 - 8 643 c.540G>T c.(538-540)atG>atT p.M180I TSNARE1_ENST00000518928.1_5'UTR|TSNARE1_ENST00000307180.3_Missense_Mutation_p.M399I|TSNARE1_ENST00000520166.1_Missense_Mutation_p.M399I|TSNARE1_ENST00000524325.1_Missense_Mutation_p.M398I Q96NA8 TSNA1_HUMAN t-SNARE domain containing 1 399 vesicle-mediated transport integral to membrane breast(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(6)|ovary(2)|stomach(2)|urinary_tract(1) 20 all_cancers(97;7.39e-11)|all_epithelial(106;8.98e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000332)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155) GGCCCTGCCACATGTTGTCAC 0.607000 15 163 2.62699e-14 3.33833e-14 0.479597 1 0 AGO1 26523 broad.mit.edu 37 1 36379547 36379547 + Missense_Mutation SNP C C T TCGA-CV-5441-01A-01D-1512-08 TCGA-CV-5441-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e 79ffab90-e307-45fb-a6ce-0d9aea0b7552 g.chr1:36379547C>T ENST00000373204.4 + 13 1900 c.1687C>T c.(1687-1689)Ctc>Ttc p.L563F AGO1_ENST00000373206.1_Missense_Mutation_p.L488F NM_012199.2 NP_036331.1 argonaute RISC catalytic component 1 CAACCTCTGCCTCAAGATCAA 0.507000 62 117 0 0 0.870114 0 0 MST1R 4486 broad.mit.edu 37 3 49935550 49935550 + Missense_Mutation SNP C C A TCGA-CV-5441-01A-01D-1512-08 TCGA-CV-5441-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e 79ffab90-e307-45fb-a6ce-0d9aea0b7552 g.chr3:49935550C>A ENST00000296474.3 - 5 1841 c.1814G>T c.(1813-1815)gGa>gTa p.G605V MST1R_ENST00000344206.4_Missense_Mutation_p.G605V NM_002447.2 NP_002438.2 Q04912 RON_HUMAN macrophage stimulating 1 receptor (c-met-related tyrosine kinase) 605 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) CTGATGGGTTCCCTCAGGCAC 0.577000 26 63 1.33986e-20 1.9014e-20 0.681144 1 0 ZNF257 113835 broad.mit.edu 37 19 22271667 22271667 + Missense_Mutation SNP A A T TCGA-CV-5441-01A-01D-1512-08 TCGA-CV-5441-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e 79ffab90-e307-45fb-a6ce-0d9aea0b7552 g.chr19:22271667A>T ENST00000594947.1 + 4 1259 c.1115A>T c.(1114-1116)tAc>tTc p.Y372F NM_033468.2 NP_258429.2 Q9Y2Q1 ZN257_HUMAN zinc finger protein 257 372 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding haematopoietic_and_lymphoid_tissue(2)|lung(4) 6 all_lung(12;0.0961)|Lung NSC(12;0.103) GAGAAACCCTACAAATGTGAA 0.383000 12 38 0 0 0.411799 0 0 SMARCC2 6601 broad.mit.edu 37 12 56566376 56566376 + Missense_Mutation SNP G G A TCGA-CV-5441-01A-01D-1512-08 TCGA-CV-5441-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e 79ffab90-e307-45fb-a6ce-0d9aea0b7552 g.chr12:56566376G>A ENST00000394023.3 - 19 1961 c.1856C>T c.(1855-1857)cCc>cTc p.P619L SMARCC2_ENST00000550164.1_Missense_Mutation_p.P619L|SMARCC2_ENST00000347471.4_Missense_Mutation_p.P619L|SMARCC2_ENST00000267064.4_Missense_Mutation_p.P588L|RP11-977G19.5_ENST00000553176.1_RNA NM_001130420.1 NP_001123892.1 Q8TAQ2 SMRC2_HUMAN SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2 588 SANT. chromatin remodeling|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex DNA binding|protein binding|transcription coactivator activity breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(3)|lung(20)|ovary(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1) 41 OV - Ovarian serous cystadenocarcinoma(18;0.123) TACCTTGGAGGGAACATTCTT 0.502000 46 100 0 0 0.859065 0 0 PPP1R16B 26051 broad.mit.edu 37 20 37464725 37464725 + Silent SNP C C A TCGA-CV-5441-01A-01D-1512-08 TCGA-CV-5441-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e 79ffab90-e307-45fb-a6ce-0d9aea0b7552 g.chr20:37464725C>A ENST00000299824.1 + 2 346 c.157C>A c.(157-159)Cgg>Agg p.R53R PPP1R16B_ENST00000373331.2_Silent_p.R53R NM_015568.2 NP_056383.1 Q96T49 PP16B_HUMAN protein phosphatase 1, regulatory subunit 16B 53 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) AAAGCATGAGCGGAAGCGCAG 0.677000 13 22 4.3838e-07 5.02213e-07 0.435327 1 0 ZNF835 90485 broad.mit.edu 37 19 57176560 57176560 + Nonsense_Mutation SNP C C A TCGA-CV-5441-01A-01D-1512-08 TCGA-CV-5441-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e 79ffab90-e307-45fb-a6ce-0d9aea0b7552 g.chr19:57176560C>A ENST00000537055.2 - 2 238 c.7G>T c.(7-9)Gga>Tga p.G3* NM_001005850.2 NP_001005850.2 zinc finger protein 835 endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(22)|pancreas(3)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3) 47 CTCAAGAGTCCCTCCATCCTC 0.498000 16 57 2.35188e-11 2.85967e-11 0.539581 1 0 ZEB1 6935 broad.mit.edu 37 10 31816121 31816121 + Missense_Mutation SNP G G T TCGA-CV-5441-01A-01D-1512-08 TCGA-CV-5441-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e 79ffab90-e307-45fb-a6ce-0d9aea0b7552 g.chr10:31816121G>T ENST00000446923.2 + 9 3647 c.3256G>T c.(3256-3258)Gca>Tca p.A1086S ZEB1_ENST00000320985.10_Missense_Mutation_p.A1102S|ZEB1_ENST00000560721.2_Missense_Mutation_p.A1082S|ZEB1_ENST00000542815.3_Missense_Mutation_p.A1035S|ZEB1_ENST00000361642.5_Missense_Mutation_p.A1103S NM_001128128.2|NM_001174094.1 NP_001121600.1|NP_001167565.1 P37275 ZEB1_HUMAN zinc finger E-box binding homeobox 1 1102 Glu-rich (acidic). cell proliferation|immune response|negative regulation of transcription from RNA polymerase II promoter|positive regulation of neuron differentiation cytoplasm E-box binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding NS(2)|breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(38)|ovary(3)|skin(6)|upper_aerodigestive_tract(4) 77 Prostate(175;0.0156) TGAAAGTCAAGCAAGCAGCTT 0.418000 16 25 1.33834e-09 1.57711e-09 0.557998 1 0 PTPRT 11122 broad.mit.edu 37 20 41419980 41419980 + Missense_Mutation SNP C C A TCGA-CV-5441-01A-01D-1512-08 TCGA-CV-5441-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e 79ffab90-e307-45fb-a6ce-0d9aea0b7552 g.chr20:41419980C>A ENST00000373198.3 - 3 576 c.341G>T c.(340-342)aGg>aTg p.R114M PTPRT_ENST00000373187.1_Missense_Mutation_p.R114M|PTPRT_ENST00000356100.2_Missense_Mutation_p.R114M|PTPRT_ENST00000373201.1_Missense_Mutation_p.R114M|PTPRT_ENST00000373190.1_Missense_Mutation_p.R114M|PTPRT_ENST00000373184.1_Missense_Mutation_p.R114M|PTPRT_ENST00000373193.3_Missense_Mutation_p.R114M NM_133170.3 NP_573400.3 O14522 PTPRT_HUMAN protein tyrosine phosphatase, receptor type, T 114 MAM. 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 p.R114K(1) 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) TGGGCTGGACCTGTCACGGCT 0.602000 27 69 9.78306e-22 1.40697e-21 0.740014 1 0 FCRL3 115352 broad.mit.edu 37 1 157659649 157659649 + Missense_Mutation SNP G G T TCGA-CV-5441-01A-01D-1512-08 TCGA-CV-5441-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e 79ffab90-e307-45fb-a6ce-0d9aea0b7552 g.chr1:157659649G>T ENST00000368184.3 - 10 2040 c.1749C>A c.(1747-1749)agC>agA p.S583R FCRL3_ENST00000368186.5_Missense_Mutation_p.S583R|FCRL3_ENST00000473231.1_5'UTR NM_052939.3 NP_443171.2 Q96P31 FCRL3_HUMAN Fc receptor-like 3 583 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) GGACGAGGATGCTGAGCACCA 0.572000 13 45 0.0135373 0.0139816 0.411799 1 0 PPM1K 152926 broad.mit.edu 37 4 89199527 89199527 + Missense_Mutation SNP C C T rs146041562 TCGA-CV-5441-01A-01D-1512-08 TCGA-CV-5441-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e 79ffab90-e307-45fb-a6ce-0d9aea0b7552 g.chr4:89199527C>T ENST00000295908.6 - 2 598 c.209G>A c.(208-210)cGc>cAc p.R70H PPM1K_ENST00000513546.2_5'UTR|PPM1K_ENST00000506423.1_Missense_Mutation_p.R70H|PPM1K_ENST00000315194.4_Missense_Mutation_p.R70H NM_152542.3 NP_689755.3 Q8N3J5 PPM1K_HUMAN protein phosphatase, Mg2+/Mn2+ dependent, 1K 70 protein dephosphorylation mitochondrial matrix|protein serine/threonine phosphatase complex metal ion binding|protein serine/threonine phosphatase activity endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|urinary_tract(1) 13 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;0.000192) CTCATCAATGCGGTTATCCCA 0.512000 30 25 0 0 0.706142 0 0 MROH2B 133558 broad.mit.edu 37 5 41004450 41004450 + Missense_Mutation SNP C C A TCGA-CV-5441-01A-01D-1512-08 TCGA-CV-5441-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e 79ffab90-e307-45fb-a6ce-0d9aea0b7552 g.chr5:41004450C>A ENST00000399564.4 - 37 4642 c.4192G>T c.(4192-4194)Gat>Tat p.D1398Y MROH2B_ENST00000506092.2_Missense_Mutation_p.D953Y NM_173489.4 NP_775760.3 maestro heat-like repeat family member 2B TCACTTACATCTTCAAAGAAG 0.458000 62 109 6.56249e-45 1.08029e-44 0.870114 1 0 COL5A3 50509 broad.mit.edu 37 19 10078024 10078024 + Splice_Site SNP G G T TCGA-CV-5441-01A-01D-1512-08 TCGA-CV-5441-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e 79ffab90-e307-45fb-a6ce-0d9aea0b7552 g.chr19:10078024G>T ENST00000264828.3 - 62 4542 c.4458_splice c.e62+1 p.P1486_splice NM_015719.3 NP_056534.2 P25940 CO5A3_HUMAN collagen, type V, alpha 3 1486 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) GGAACTCACCGGGGGGCCTGG 0.642000 3 6 0.115264 0.117684 0.115264 1 0 RYR2 6262 broad.mit.edu 37 1 237969512 237969512 + Missense_Mutation SNP C C A TCGA-CV-5441-01A-01D-1512-08 TCGA-CV-5441-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e 79ffab90-e307-45fb-a6ce-0d9aea0b7552 g.chr1:237969512C>A ENST00000366574.2 + 99 14544 c.14227C>A c.(14227-14229)Ctt>Att p.L4743I RYR2_ENST00000542537.1_Missense_Mutation_p.L4727I|RYR2_ENST00000360064.6_Missense_Mutation_p.L4749I NM_001035.2 NP_001026.2 Q92736 RYR2_HUMAN ryanodine receptor 2 (cardiac) 4743 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) TGCCGCTCACCTTCTCGACAT 0.413000 16 55 2.32078e-09 2.72285e-09 0.479597 1 0 BCOR 54880 broad.mit.edu 37 X 39933957 39933957 + Silent SNP T T A TCGA-CV-5441-01A-01D-1512-08 TCGA-CV-5441-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e 79ffab90-e307-45fb-a6ce-0d9aea0b7552 g.chrX:39933957T>A ENST00000342274.4 - 4 1004 c.642A>T c.(640-642)tcA>tcT p.S214S BCOR_ENST00000378444.4_Silent_p.S214S|BCOR_ENST00000397354.3_Silent_p.S214S|BCOR_ENST00000378455.4_Silent_p.S214S NM_001123383.1 NP_001116855.1 Q6W2J9 BCOR_HUMAN BCL6 corepressor 214 heart development|histone H2A monoubiquitination|negative regulation of bone mineralization|negative regulation of histone H3-K36 methylation|negative regulation of histone H3-K4 methylation|negative regulation of tooth mineralization|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|specification of axis polarity|transcription, DNA-dependent nucleus heat shock protein binding|histone deacetylase binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding breast(4)|central_nervous_system(11)|cervix(1)|endometrium(24)|eye(6)|haematopoietic_and_lymphoid_tissue(33)|kidney(2)|large_intestine(11)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 126 ACATGTTCAGTGAATACTTAT 0.542000 """F, N, S, T""" RARA """retinoblastoma, AML, APL(translocation)""" oculo-facio-cardio-dental genetic 55 22 0 0 0.870114 0 0 CNTN4 152330 broad.mit.edu 37 3 3067852 3067852 + Missense_Mutation SNP C C A TCGA-CV-5441-01A-01D-1512-08 TCGA-CV-5441-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e 79ffab90-e307-45fb-a6ce-0d9aea0b7552 g.chr3:3067852C>A ENST00000397461.1 + 14 1937 c.1553C>A c.(1552-1554)cCg>cAg p.P518Q CNTN4_ENST00000448906.2_Missense_Mutation_p.P190Q|CNTN4_ENST00000427331.1_Missense_Mutation_p.P518Q|CNTN4_ENST00000358480.3_Missense_Mutation_p.P299Q|CNTN4_ENST00000397459.2_Missense_Mutation_p.P190Q|CNTN4_ENST00000418658.1_Missense_Mutation_p.P518Q NM_001206955.1 NP_001193884.1 Q8IWV2 CNTN4_HUMAN contactin 4 518 Ig-like C2-type 6. 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) ATTGTTTTACCGTGCCAGGTA 0.423000 22 59 7.41877e-09 8.66683e-09 0.608945 1 0 SLC2A3 6515 broad.mit.edu 37 12 8083212 8083212 + Silent SNP C C A TCGA-CV-5441-01A-01D-1512-08 TCGA-CV-5441-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e 79ffab90-e307-45fb-a6ce-0d9aea0b7552 g.chr12:8083212C>A ENST00000075120.7 - 5 777 c.537G>T c.(535-537)ggG>ggT p.G179G NM_006931.2 NP_008862.1 P11169 GTR3_HUMAN solute carrier family 2 (facilitated glucose transporter), member 3 179 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) GCTCTTCAGACCCAAGGATGA 0.433000 25 92 1.64293e-13 2.05367e-13 0.654019 1 0 POLE 5426 broad.mit.edu 37 12 133212601 133212601 + Silent SNP T T C TCGA-CV-5441-01A-01D-1512-08 TCGA-CV-5441-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e 79ffab90-e307-45fb-a6ce-0d9aea0b7552 g.chr12:133212601T>C ENST00000320574.5 - 42 5731 c.5688A>G c.(5686-5688)tcA>tcG p.S1896S POLE_ENST00000535270.1_Silent_p.S1869S|POLE_ENST00000434528.3_5'UTR NM_006231.2 NP_006222.2 Q07864 DPOE1_HUMAN polymerase (DNA directed), epsilon, catalytic subunit 1896 base-excision repair, gap-filling|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|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair nucleoplasm chromatin binding|DNA binding|DNA-directed DNA polymerase activity|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) AGGTCTCCTTTGAATGGATGC 0.428000 DNA polymerases (catalytic subunits) 25 57 0 0 0.729181 0 0 IGLV5-52 28779 broad.mit.edu 37 22 22673091 22673091 + RNA SNP C C T TCGA-CV-5441-01A-01D-1512-08 TCGA-CV-5441-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e 79ffab90-e307-45fb-a6ce-0d9aea0b7552 g.chr22:22673091C>T ENST00000390289.2 + 0 10 LL22NC03-80A10.6_ENST00000426066.1_RNA TCCACCATGGCCTGGACTCTT 0.572000 4 2 0 0 0.150653 0 0 XIRP2 129446 broad.mit.edu 37 2 168101077 168101077 + Missense_Mutation SNP T T A TCGA-CV-5441-01A-01D-1512-08 TCGA-CV-5441-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e 79ffab90-e307-45fb-a6ce-0d9aea0b7552 g.chr2:168101077T>A ENST00000409195.1 + 9 3264 c.3175T>A c.(3175-3177)Ttt>Att p.F1059I XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.F837I|XIRP2_ENST00000295237.9_Missense_Mutation_p.F1059I|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409728.1_Intron NM_152381.5 NP_689594.4 A4UGR9 XIRP2_HUMAN xin actin-binding repeat containing 2 884 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 CAAATGGTTGTTTGAAACCCA 0.318000 21 39 0 0 0.575678 0 0 TPTE2P6 374491 broad.mit.edu 37 13 25168501 25168501 + RNA SNP G G A rs4770716 by1000genomes TCGA-CV-5441-01A-01D-1512-08 TCGA-CV-5441-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e 79ffab90-e307-45fb-a6ce-0d9aea0b7552 g.chr13:25168501G>A ENST00000453498.1 + 0 1173 TTTTCTCTTCGGTGAGTAATC 0.388000 3 25 0 0 0.115264 0 0 CARD6 84674 broad.mit.edu 37 5 40853333 40853333 + Missense_Mutation SNP G G A TCGA-CV-5441-01A-01D-1512-08 TCGA-CV-5441-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e 79ffab90-e307-45fb-a6ce-0d9aea0b7552 g.chr5:40853333G>A ENST00000254691.5 + 3 2098 c.1899G>A c.(1897-1899)atG>atA p.M633I CARD6_ENST00000381677.3_Intron NM_032587.3 NP_115976.2 Q9BX69 CARD6_HUMAN caspase recruitment domain family, member 6 633 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 AGGAAGTGATGTTCTCTTCTT 0.522000 11 278 0 0 0.457914 0 0 NDOR1 27158 broad.mit.edu 37 9 140108321 140108321 + Missense_Mutation SNP A A G TCGA-CV-5441-01A-01D-1512-08 TCGA-CV-5441-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e 79ffab90-e307-45fb-a6ce-0d9aea0b7552 g.chr9:140108321A>G ENST00000371521.4 + 4 484 c.401A>G c.(400-402)cAt>cGt p.H134R NDOR1_ENST00000344894.5_Missense_Mutation_p.H134R|NDOR1_ENST00000427047.2_Missense_Mutation_p.H134R|NDOR1_ENST00000458322.2_Missense_Mutation_p.H134R NM_001144026.1 NP_001137498.1 Q9UHB4 NDOR1_HUMAN NADPH dependent diflavin oxidoreductase 1 134 Flavodoxin-like. cell death cytosol|intermediate filament cytoskeleton|nucleus|perinuclear region of cytoplasm flavin adenine dinucleotide binding|FMN binding|iron ion binding|NADP 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) GATGACCAGCATGAGCTGGGG 0.677000 17 10 0 0 0.557998 0 0 AHNAK2 113146 broad.mit.edu 37 14 105411998 105411998 + Missense_Mutation SNP C C A TCGA-CV-5441-01A-01D-1512-08 TCGA-CV-5441-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e 79ffab90-e307-45fb-a6ce-0d9aea0b7552 g.chr14:105411998C>A ENST00000333244.5 - 7 9909 c.9790G>T c.(9790-9792)Gcc>Tcc p.A3264S AHNAK2_ENST00000557457.1_Intron NM_138420.2 NP_612429.2 Q8IVF2 AHNK2_HUMAN AHNAK nucleoprotein 2 3264 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) ACGTCGGGGGCCGTCACATCC 0.627000 75 140 2.5377e-55 4.25601e-55 0.870114 1 0 DNAJA3 9093 broad.mit.edu 37 16 4475952 4475952 + Missense_Mutation SNP G G T TCGA-CV-5441-01A-01D-1512-08 TCGA-CV-5441-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e 79ffab90-e307-45fb-a6ce-0d9aea0b7552 g.chr16:4475952G>T ENST00000262375.6 + 1 147 c.70G>T c.(70-72)Ggt>Tgt p.G24C DNAJA3_ENST00000355296.4_Missense_Mutation_p.G24C|DNAJA3_ENST00000431375.2_5'UTR NM_005147.5 NP_005138.3 Q96EY1 DNJA3_HUMAN DnaJ (Hsp40) homolog, subfamily A, member 3 24 activation of caspase activity|negative regulation of apoptosis|negative regulation of caspase activity|negative regulation of cell proliferation|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interferon-gamma-mediated signaling pathway|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein kinase activity|neuromuscular junction development|positive regulation of apoptosis|positive regulation of protein ubiquitination|protein folding|protein stabilization|response to heat|response to interferon-gamma cytosol|mitochondrial matrix|mitochondrial nucleoid|nucleus ATP binding|heat shock protein binding|interferon-gamma receptor binding|metal ion binding|NF-kappaB binding|protein kinase binding NS(1)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|ovary(2)|upper_aerodigestive_tract(2) 15 GGCTATATCGGGTAGAGGGGC 0.726000 3 2 0.150653 0.153523 0.150653 1 0 TYR 7299 broad.mit.edu 37 11 88911460 88911460 + Silent SNP A A C rs61753255 TCGA-CV-5441-01A-01D-1512-08 TCGA-CV-5441-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e 79ffab90-e307-45fb-a6ce-0d9aea0b7552 g.chr11:88911460A>C ENST00000263321.5 + 1 841 c.339A>C c.(337-339)acA>acC p.T113T TYR_ENST00000526139.1_3'UTR NM_000372.4 NP_000363.1 P14679 TYRO_HUMAN tyrosinase 113 eye pigment biosynthetic process|melanin biosynthetic process from tyrosine|visual perception Golgi-associated vesicle|integral to membrane|lysosome|melanosome membrane|perinuclear region of cytoplasm copper ion binding|monophenol monooxygenase activity|protein heterodimerization activity|protein homodimerization activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 48 Acute lymphoblastic leukemia(157;2.33e-05)|all_hematologic(158;0.0033) Azelaic Acid(DB00548)|Mimosine(DB01055)|NADH(DB00157) CAAACTGCACAGAGAGACGAC 0.463000 27 39 0 0 0.667858 0 0 SLC25A12 8604 broad.mit.edu 37 2 172669945 172669945 + Missense_Mutation SNP C C A TCGA-CV-5441-01A-01D-1512-08 TCGA-CV-5441-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e 79ffab90-e307-45fb-a6ce-0d9aea0b7552 g.chr2:172669945C>A ENST00000422440.2 - 11 1112 c.1075G>T c.(1075-1077)Ggc>Tgc p.G359C SLC25A12_ENST00000392592.4_Missense_Mutation_p.G252C NM_003705.4 NP_003696.2 O75746 CMC1_HUMAN solute carrier family 25 (aspartate/glutamate carrier), member 12 359 gluconeogenesis|malate-aspartate shuttle|response to calcium ion integral to membrane|mitochondrial inner membrane calcium ion binding|L-aspartate transmembrane transporter activity|L-glutamate transmembrane transporter activity|protein binding endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(10)|upper_aerodigestive_tract(1) 23 OV - Ovarian serous cystadenocarcinoma(117;0.216) L-Aspartic Acid(DB00128) GAGCCAGAGCCACGCTGGTTT 0.443000 52 166 6.9144e-35 1.08164e-34 0.870114 1 0 XKR9 389668 broad.mit.edu 37 8 71646336 71646336 + Missense_Mutation SNP G G T TCGA-CV-5441-01A-01D-1512-08 TCGA-CV-5441-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e 79ffab90-e307-45fb-a6ce-0d9aea0b7552 g.chr8:71646336G>T ENST00000408926.3 + 5 1333 c.799G>T c.(799-801)Gtt>Ttt p.V267F XKR9_ENST00000520273.1_Intron|XKR9_ENST00000520030.1_Missense_Mutation_p.V267F NM_001011720.1 NP_001011720.1 Q5GH70 XKR9_HUMAN XK, Kell blood group complex subunit-related family, member 9 267 integral to membrane breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(2)|lung(4)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 19 Breast(64;0.0716) Epithelial(68;0.00301)|all cancers(69;0.0165)|OV - Ovarian serous cystadenocarcinoma(28;0.0524)|BRCA - Breast invasive adenocarcinoma(89;0.166) TAGGATTGTTGTTGGATTCAT 0.313000 52 61 2.27781e-18 3.06188e-18 0.870114 1 0 TRIM43 129868 broad.mit.edu 37 2 96260164 96260164 + Missense_Mutation SNP G G T TCGA-CV-5441-01A-01D-1512-08 TCGA-CV-5441-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e 79ffab90-e307-45fb-a6ce-0d9aea0b7552 g.chr2:96260164G>T ENST00000272395.2 + 2 529 c.393G>T c.(391-393)gaG>gaT p.E131D NM_001164464.1|NM_138800.1 NP_001157936.1|NP_620155.1 Q96BQ3 TRI43_HUMAN tripartite motif containing 43 131 intracellular zinc ion binding breast(1)|large_intestine(3)|lung(7)|ovary(1) 12 CCATCGAAGAGGCAGCTGAGG 0.488000 34 76 5.43694e-19 7.45836e-19 0.812448 1 0 CACNA2D1 781 broad.mit.edu 37 7 81693671 81693671 + Splice_Site SNP C C G TCGA-CV-5441-01A-01D-1512-08 TCGA-CV-5441-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e 79ffab90-e307-45fb-a6ce-0d9aea0b7552 g.chr7:81693671C>G ENST00000356860.3 - 9 1067 c.e9-1 CACNA2D1_ENST00000423588.1_Splice_Site|CACNA2D1_ENST00000356253.5_Splice_Site NM_000722.2 NP_000713.2 P54289 CA2D1_HUMAN calcium channel, voltage-dependent, alpha 2/delta subunit 1 voltage-gated calcium channel complex metal ion binding breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(15)|liver(1)|lung(42)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 81 Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115) TTGGATGTACCTGAAACAAAT 0.323000 24 63 0 0 0.681144 0 0 CX3CR1 1524 broad.mit.edu 37 3 39307932 39307932 + Silent SNP A A T TCGA-CV-5441-01A-01D-1512-08 TCGA-CV-5441-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e 79ffab90-e307-45fb-a6ce-0d9aea0b7552 g.chr3:39307932A>T ENST00000541347.1 - 2 308 c.69T>A c.(67-69)atT>atA p.I23I CX3CR1_ENST00000399220.2_Silent_p.I23I|CX3CR1_ENST00000542107.1_Silent_p.I23I|CX3CR1_ENST00000358309.3_Silent_p.I55I NM_001171171.1 NP_001164642.1 P49238 CX3C1_HUMAN chemokine (C-X3-C motif) receptor 1 23 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) CGATGTCCCCAATATAACAGG 0.458000 15 39 0 0 0.500413 0 0 SYNE1 23345 broad.mit.edu 37 6 152757237 152757237 + Splice_Site SNP C C A TCGA-CV-5441-01A-01D-1512-08 TCGA-CV-5441-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e 79ffab90-e307-45fb-a6ce-0d9aea0b7552 g.chr6:152757237C>A ENST00000367255.5 - 33 4751 c.e33-1 SYNE1_ENST00000423061.1_Splice_Site|SYNE1_ENST00000448038.1_Splice_Site|SYNE1_ENST00000413186.2_Splice_Site|SYNE1_ENST00000341594.5_Splice_Site|SYNE1_ENST00000367253.4_Splice_Site|SYNE1_ENST00000265368.4_Splice_Site|SYNE1_ENST00000367248.3_Splice_Site NM_182961.3 NP_892006.3 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex 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) TAGAAAACTCCTAGAAAAAAT 0.398000 HNSCC(10;0.0054) 88 65 1.67174e-50 2.76899e-50 0.870114 1 0 SHANK3 85358 broad.mit.edu 37 22 51143509 51143509 + Missense_Mutation SNP G G T TCGA-CV-5441-01A-01D-1512-08 TCGA-CV-5441-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e 79ffab90-e307-45fb-a6ce-0d9aea0b7552 g.chr22:51143509G>T ENST00000414786.2 + 16 2199 c.1972G>T c.(1972-1974)Ggg>Tgg p.G658W SHANK3_ENST00000262795.3_Missense_Mutation_p.G688W|SHANK3_ENST00000445220.2_Missense_Mutation_p.G673W F2Z3L0 F2Z3L0_HUMAN SH3 and multiple ankyrin repeat domains 3 688 central_nervous_system(1)|endometrium(1)|kidney(1)|lung(5) 8 all_cancers(38;3.75e-11)|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) BRCA - Breast invasive adenocarcinoma(115;0.22) AGAAGAGGACGGGGCTCGGCG 0.587000 21 62 1.2644e-06 1.44234e-06 0.592651 1 0 SLC7A14 57709 broad.mit.edu 37 3 170216503 170216503 + Missense_Mutation SNP C C A rs141548910 TCGA-CV-5441-01A-01D-1512-08 TCGA-CV-5441-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e 79ffab90-e307-45fb-a6ce-0d9aea0b7552 g.chr3:170216503C>A ENST00000231706.4 - 4 1027 c.712G>T c.(712-714)Ggg>Tgg p.G238W CLDN11_ENST00000451576.1_Intron|CLDN11_ENST00000486975.1_Intron NM_020949.2 NP_066000.2 Q8TBB6 S7A14_HUMAN solute carrier family 7, member 14 238 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) CAGTATTTCCCATTGATGAAG 0.522000 31 76 2.48696e-23 3.64527e-23 0.779181 1 0 JSRP1 126306 broad.mit.edu 37 19 2252344 2252344 + Missense_Mutation SNP C C A TCGA-CV-5441-01A-01D-1512-08 TCGA-CV-5441-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e 79ffab90-e307-45fb-a6ce-0d9aea0b7552 g.chr19:2252344C>A ENST00000300961.5 - 7 1044 c.980G>T c.(979-981)gGc>gTc p.G327V JSRP1_ENST00000586471.1_Missense_Mutation_p.G327V NM_144616.3 NP_653217.1 Q96MG2 JSPR1_HUMAN junctional sarcoplasmic reticulum protein 1 327 Arg-rich. sarcoplasmic reticulum membrane haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|pancreas(1)|urinary_tract(1) 6 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) CCGCCCCTTGCCTGCGCGGAG 0.721000 4 7 0.014758 0.015213 0.184627 1 0 WDPCP 51057 broad.mit.edu 37 2 63631467 63631467 + Missense_Mutation SNP C C T TCGA-CV-5441-01A-01D-1512-08 TCGA-CV-5441-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e 79ffab90-e307-45fb-a6ce-0d9aea0b7552 g.chr2:63631467C>T ENST00000409120.1 - 4 4125 c.575G>A c.(574-576)aGc>aAc p.S192N WDPCP_ENST00000398544.3_Missense_Mutation_p.S225N|WDPCP_ENST00000409835.1_5'UTR|WDPCP_ENST00000409199.1_Missense_Mutation_p.S192N|WDPCP_ENST00000272321.7_Missense_Mutation_p.S384N|WDPCP_ENST00000409562.3_Missense_Mutation_p.S384N O95876 FRITZ_HUMAN WD repeat containing planar cell polarity effector 384 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 TGGGTGGCAGCTTATTAATGA 0.433000 50 99 0 0 0.870114 0 0 IFNL2 282616 broad.mit.edu 37 19 39760161 39760161 + Silent SNP C C T TCGA-CV-5441-01A-01D-1512-08 TCGA-CV-5441-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e 79ffab90-e307-45fb-a6ce-0d9aea0b7552 g.chr19:39760161C>T ENST00000331982.5 + 4 359 c.304C>T c.(304-306)Ctg>Ttg p.L102L NM_172138.1 NP_742150.1 interferon, lambda 2 GGAGGCTGAGCTGGCCCTGAC 0.627000 16 42 0 0 0.557998 0 0 SLC35F3 148641 broad.mit.edu 37 1 234452395 234452395 + Silent SNP C C T TCGA-CV-5441-01A-01D-1512-08 TCGA-CV-5441-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e 79ffab90-e307-45fb-a6ce-0d9aea0b7552 g.chr1:234452395C>T ENST00000366618.3 + 5 1021 c.876C>T c.(874-876)taC>taT p.Y292Y SLC35F3_ENST00000366617.3_Silent_p.Y223Y NM_173508.2 NP_775779.1 Q8IY50 S35F3_HUMAN solute carrier family 35, member F3 223 transport integral to membrane 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) TGATGACCTACGCTGATGGCT 0.587000 45 86 0 0 0.870114 0 0 NLGN1 22871 broad.mit.edu 37 3 173997336 173997336 + Silent SNP C C A TCGA-CV-5441-01A-01D-1512-08 TCGA-CV-5441-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e 79ffab90-e307-45fb-a6ce-0d9aea0b7552 g.chr3:173997336C>A ENST00000457714.1 + 6 1974 c.1545C>A c.(1543-1545)atC>atA p.I515I NLGN1_ENST00000401917.3_Silent_p.I555I|NLGN1_ENST00000545397.1_Silent_p.I515I|NLGN1_ENST00000361589.4_Silent_p.I515I NM_014932.2 NP_055747.1 Q8N2Q7 NLGN1_HUMAN neuroligin 1 532 calcium-dependent cell-cell adhesion|neuron cell-cell adhesion|neuronal signal transduction|positive regulation of dendritic spine development|positive regulation of excitatory postsynaptic membrane potential|positive regulation of intracellular protein kinase cascade|positive regulation of synaptogenesis|protein targeting|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|regulation of N-methyl-D-aspartate selective glutamate receptor activity|synapse assembly|synaptic vesicle targeting cell junction|cell surface|dendrite|integral to plasma membrane|postsynaptic density|postsynaptic membrane cell adhesion molecule binding|neurexin binding|receptor activity breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|liver(2)|lung(54)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 83 Ovarian(172;0.0025) LUSC - Lung squamous cell carcinoma(14;5.36e-13)|Lung(28;9.49e-13) TACTGGGAATCCCCATGATTG 0.443000 27 55 5.61819e-17 7.40328e-17 0.693898 1 0 SRD5A2 6716 broad.mit.edu 37 2 31805986 31805986 + RNA SNP C C A TCGA-CV-5441-01A-01D-1512-08 TCGA-CV-5441-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e 79ffab90-e307-45fb-a6ce-0d9aea0b7552 g.chr2:31805986C>A ENST00000405650.1 - 0 150 P31213 S5A2_HUMAN steroid-5-alpha-reductase, alpha polypeptide 2 (3-oxo-5 alpha-steroid delta 4-dehydrogenase alpha 2) androgen biosynthetic process|cell differentiation|cell-cell signaling|male gonad development endoplasmic reticulum membrane|integral to membrane|microsome 3-oxo-5-alpha-steroid 4-dehydrogenase activity|sterol 5-alpha reductase activity Acute lymphoblastic leukemia(172;0.155) Azelaic Acid(DB00548)|Dutasteride(DB01126) GTGTTCCTCGCCGGTGGCCGC 0.711000 12 14 0.000151284 0.00016318 0.435327 1 0 CDH7 1005 broad.mit.edu 37 18 63530053 63530053 + Missense_Mutation SNP C C A rs138789170 byFrequency TCGA-CV-5441-01A-01D-1512-08 TCGA-CV-5441-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e 79ffab90-e307-45fb-a6ce-0d9aea0b7552 g.chr18:63530053C>A ENST00000536984.2 + 11 2458 c.1764C>A c.(1762-1764)gaC>gaA p.D588E CDH7_ENST00000397968.2_Missense_Mutation_p.D588E|CDH7_ENST00000323011.3_Missense_Mutation_p.D588E Q9ULB5 CADH7_HUMAN cadherin 7, type 2 588 Cadherin 5. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding p.D588D(2) NS(1)|breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(43)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(2) 80 Esophageal squamous(42;0.129) GTGATGCTGACGGCGTAGCCC 0.522000 27 26 1.2476e-16 1.63594e-16 0.706142 1 0 RRN3P2 653390 broad.mit.edu 37 16 29110458 29110458 + RNA SNP T T C rs151074589 by1000genomes TCGA-CV-5441-01A-01D-1512-08 TCGA-CV-5441-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e 79ffab90-e307-45fb-a6ce-0d9aea0b7552 g.chr16:29110458T>C ENST00000564580.1 + 0 1131 p.W375R(25) GAATTTTGAGTGGATAGTGAT 0.328000 7 85 0 0 0.278610 0 0 C3orf38 285237 broad.mit.edu 37 3 88202621 88202621 + Splice_Site SNP G G T TCGA-CV-5441-01A-01D-1512-08 TCGA-CV-5441-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e 79ffab90-e307-45fb-a6ce-0d9aea0b7552 g.chr3:88202621G>T ENST00000318887.3 + 2 685 c.375_splice c.e2+1 p.Q125_splice C3orf38_ENST00000486971.1_Splice_Site_p.Q125_splice NM_173824.3 NP_776185.2 Q5JPI3 CC038_HUMAN chromosome 3 open reading frame 38 125 apoptosis breast(1)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|urinary_tract(1) 12 Lung NSC(201;0.17) UCEC - Uterine corpus endometrioid carcinoma (27;0.194)|LUSC - Lung squamous cell carcinoma(29;0.00353)|Lung(72;0.00661) TATTTCAACAGGTAAAATAAA 0.383000 14 36 0.000219431 0.000235262 0.457914 1 0 ADCY2 108 broad.mit.edu 37 5 7706876 7706876 + Missense_Mutation SNP G G A TCGA-CV-5441-01A-01D-1512-08 TCGA-CV-5441-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e 79ffab90-e307-45fb-a6ce-0d9aea0b7552 g.chr5:7706876G>A ENST00000338316.4 + 8 1218 c.1129G>A c.(1129-1131)Gga>Aga p.G377R ADCY2_ENST00000537121.1_Missense_Mutation_p.G197R NM_020546.2 NP_065433.2 Q08462 ADCY2_HUMAN adenylate cyclase 2 (brain) 377 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 GGATGCTACTGGAGTTGATAT 0.443000 54 131 0 0 0.870114 0 0 REG1A 5967 broad.mit.edu 37 2 79349244 79349244 + Missense_Mutation SNP C C A TCGA-CV-5441-01A-01D-1512-08 TCGA-CV-5441-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e 79ffab90-e307-45fb-a6ce-0d9aea0b7552 g.chr2:79349244C>A ENST00000233735.1 + 4 417 c.314C>A c.(313-315)cCc>cAc p.P105H NM_002909.4 NP_002900.2 P05451 REG1A_HUMAN regenerating islet-derived 1 alpha 105 C-type lectin. positive regulation of cell proliferation extracellular region growth factor activity|sugar binding NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(26)|prostate(1)|upper_aerodigestive_tract(1) 39 CTCCATGACCCCAAAAAGGTA 0.493000 25 63 4.87955e-14 6.1425e-14 0.693898 1 0 PTPRT 11122 broad.mit.edu 37 20 41100930 41100930 + Missense_Mutation SNP G G T TCGA-CV-5441-01A-01D-1512-08 TCGA-CV-5441-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e 79ffab90-e307-45fb-a6ce-0d9aea0b7552 g.chr20:41100930G>T ENST00000373198.3 - 8 1661 c.1426C>A c.(1426-1428)Ctg>Atg p.L476M PTPRT_ENST00000373187.1_Missense_Mutation_p.L476M|PTPRT_ENST00000356100.2_Missense_Mutation_p.L476M|PTPRT_ENST00000373201.1_Missense_Mutation_p.L476M|PTPRT_ENST00000373190.1_Missense_Mutation_p.L476M|PTPRT_ENST00000373184.1_Missense_Mutation_p.L476M|PTPRT_ENST00000373193.3_Missense_Mutation_p.L476M NM_133170.3 NP_573400.3 O14522 PTPRT_HUMAN protein tyrosine phosphatase, receptor type, T 476 Fibronectin type-III 2. 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) TGCACCACCAGCTCCTCGCTC 0.582000 43 83 5.73435e-26 8.52188e-26 0.870114 1 0 POLG 5428 broad.mit.edu 37 15 89873428 89873428 + Silent SNP G G A TCGA-CV-5441-01A-01D-1512-08 TCGA-CV-5441-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e 79ffab90-e307-45fb-a6ce-0d9aea0b7552 g.chr15:89873428G>A ENST00000268124.5 - 3 1072 c.739C>T c.(739-741)Ctg>Ttg p.L247L POLG_ENST00000442287.2_Silent_p.L247L NM_001126131.1|NM_002693.2 NP_001119603.1|NP_002684.1 P54098 DPOG1_HUMAN polymerase (DNA directed), gamma 247 base-excision repair, gap-filling|cell death|DNA-dependent DNA replication mitochondrial nucleoid DNA binding|DNA-directed DNA polymerase activity|protease binding breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(3)|urinary_tract(2) 33 Lung NSC(78;0.0472)|all_lung(78;0.089) STAD - Stomach adenocarcinoma(125;0.165) GGGACCTCCAGGGGGATGAGG 0.612000 DNA polymerases (catalytic subunits) 10 80 0 0 0.361761 0 0 PRB1 5542 broad.mit.edu 37 12 11506794 11506794 + Silent SNP G G T rs142774972 TCGA-CV-5441-01A-01D-1512-08 TCGA-CV-5441-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e 79ffab90-e307-45fb-a6ce-0d9aea0b7552 g.chr12:11506794G>T ENST00000500254.2 - 3 280 c.243C>A c.(241-243)ccC>ccA p.P81P PRB1_ENST00000546254.1_Silent_p.P81P|PRB1_ENST00000545626.1_Silent_p.P81P NM_005039.3|NM_199353.2 NP_005030.2|NP_955385.1 P04280 PRP1_HUMAN proline-rich protein BstNI subfamily 1 264 15 X 20 AA approximate tandem repeats of P-P-G-K-P-Q-G-P-P-[PAQ]-Q-[GE]-[GD]- [NKS]-[KSQRN]-[PRQS]-[QS] [GPS]-[PQAR]- [PSR]. extracellular region NS(1)|central_nervous_system(1)|kidney(4)|large_intestine(1)|lung(9)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 20 OV - Ovarian serous cystadenocarcinoma(49;0.185) CCCCTTGTGGGGGTGGTCCTT 0.627000 157 366 6.72002e-22 9.71679e-22 0.870114 1 0 MAGEC1 9947 broad.mit.edu 37 X 140995750 140995750 + Missense_Mutation SNP C C T TCGA-CV-5441-01A-01D-1512-08 TCGA-CV-5441-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e 79ffab90-e307-45fb-a6ce-0d9aea0b7552 g.chrX:140995750C>T ENST00000285879.4 + 4 2846 c.2560C>T c.(2560-2562)Cct>Tct p.P854S MAGEC1_ENST00000406005.2_Intron NM_005462.4 NP_005453.2 O60732 MAGC1_HUMAN melanoma antigen family C, 1 854 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) TCTCCAGAGTCCTGTGATCTC 0.507000 HNSCC(15;0.026) 99 74 0 0 0.870114 0 0 ARID1B 57492 broad.mit.edu 37 6 157469762 157469762 + Missense_Mutation SNP C C G TCGA-CV-5441-01A-01D-1512-08 TCGA-CV-5441-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e 79ffab90-e307-45fb-a6ce-0d9aea0b7552 g.chr6:157469762C>G ENST00000346085.5 + 9 2557 c.2556C>G c.(2554-2556)aaC>aaG p.N852K ARID1B_ENST00000275248.4_Missense_Mutation_p.N781K|ARID1B_ENST00000350026.5_Missense_Mutation_p.N839K|ARID1B_ENST00000367148.1_Missense_Mutation_p.N839K NM_020732.3 NP_065783.3 Q8NFD5 ARI1B_HUMAN AT rich interactive domain 1B (SWI1-like) 839 chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent SWI/SNF complex DNA binding|protein binding|transcription coactivator activity NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3) 81 Breast(66;0.000162)|Ovarian(120;0.0265) OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05) GTTTAGGTAACTACTCCAGAC 0.473000 53 286 0 0 0.870114 0 0 CLPB 81570 broad.mit.edu 37 11 72004448 72004448 + Missense_Mutation SNP G G A TCGA-CV-5441-01A-01D-1512-08 TCGA-CV-5441-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e 79ffab90-e307-45fb-a6ce-0d9aea0b7552 g.chr11:72004448G>A ENST00000294053.3 - 17 2260 c.2087C>T c.(2086-2088)gCa>gTa p.A696V CLPB_ENST00000437826.2_Missense_Mutation_p.A651V|CLPB_ENST00000538021.1_Missense_Mutation_p.A304V|CLPB_ENST00000538039.1_Missense_Mutation_p.A666V|CLPB_ENST00000543042.1_Missense_Mutation_p.A495V|CLPB_ENST00000340729.5_Missense_Mutation_p.A637V NM_001258394.1|NM_030813.4 NP_001245323.1|NP_110440.1 Q9H078 CLPB_HUMAN ClpB caseinolytic peptidase B homolog (E. coli) 696 cellular response to heat ATP binding|nucleoside-triphosphatase activity|protein binding endometrium(3)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1) 19 GTGCAGTGGTGCCCGGATGTC 0.602000 36 153 0 0 0.796494 0 0 ANO4 121601 broad.mit.edu 37 12 101365164 101365164 + Missense_Mutation SNP G G A TCGA-CV-5441-01A-01D-1512-08 TCGA-CV-5441-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e 79ffab90-e307-45fb-a6ce-0d9aea0b7552 g.chr12:101365164G>A ENST00000392979.3 + 5 793 c.432G>A c.(430-432)atG>atA p.M144I ANO4_ENST00000538618.1_Missense_Mutation_p.M345I|ANO4_ENST00000392977.3_Missense_Mutation_p.M179I|ANO4_ENST00000299222.9_5'UTR NM_178826.3 NP_849148.2 Q32M45 ANO4_HUMAN anoctamin 4 179 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 CAGAACAAATGAATGTAAGAA 0.368000 HNSCC(74;0.22) 37 74 0 0 0.834066 0 0 KCNK9 51305 broad.mit.edu 37 8 140630763 140630763 + Missense_Mutation SNP G G A TCGA-CV-5441-01A-01D-1512-08 TCGA-CV-5441-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e 79ffab90-e307-45fb-a6ce-0d9aea0b7552 g.chr8:140630763G>A ENST00000520439.1 - 2 926 c.863C>T c.(862-864)gCg>gTg p.A288V KCNK9_ENST00000303015.1_Missense_Mutation_p.A288V Q9NPC2 KCNK9_HUMAN potassium channel, subfamily K, member 9 288 integral to membrane|membrane fraction potassium channel activity|voltage-gated ion channel activity p.A288V(1) NS(1)|endometrium(9)|kidney(1)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1) 43 all_cancers(97;3.94e-14)|all_epithelial(106;4.81e-13)|Lung NSC(106;8.18e-05)|all_lung(105;0.00015)|Ovarian(258;0.00235)|Acute lymphoblastic leukemia(118;0.155) Ovarian(118;0.134) BRCA - Breast invasive adenocarcinoma(115;0.0855) CGGGACGTCCGCCTTGTACCT 0.667000 77 62 0 0 0.870114 0 0 ROBO2 6092 broad.mit.edu 37 3 77147180 77147180 + Missense_Mutation SNP A A T TCGA-CV-5441-01A-01D-1512-08 TCGA-CV-5441-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e 79ffab90-e307-45fb-a6ce-0d9aea0b7552 g.chr3:77147180A>T ENST00000461745.1 + 2 977 c.77A>T c.(76-78)cAg>cTg p.Q26L ROBO2_ENST00000332191.8_Missense_Mutation_p.Q26L|ROBO2_ENST00000487694.3_Missense_Mutation_p.Q42L NM_002942.4 NP_002933.1 Q9HCK4 ROBO2_HUMAN roundabout, axon guidance receptor, homolog 2 (Drosophila) 26 apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development axolemma|cell surface|integral to membrane axon guidance receptor activity|identical protein binding NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1) 117 Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103) CGTCTTCGCCAGGAGGACTTT 0.527000 6 14 0 0 0.248553 0 0 CTSO 1519 broad.mit.edu 37 4 156860668 156860668 + Missense_Mutation SNP C C G TCGA-CV-5441-01A-01D-1512-08 TCGA-CV-5441-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e 79ffab90-e307-45fb-a6ce-0d9aea0b7552 g.chr4:156860668C>G ENST00000433477.3 - 4 476 c.407G>C c.(406-408)aGc>aCc p.S136T NM_001334.2 NP_001325.1 P43234 CATO_HUMAN cathepsin O 136 proteolysis lysosome cysteine-type endopeptidase activity breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(3)|prostate(1) 16 all_hematologic(180;0.24) Renal(120;0.0458) KIRC - Kidney renal clear cell carcinoma(143;0.05)|Kidney(143;0.0627)|COAD - Colon adenocarcinoma(41;0.148) CCCCACCACGCTGAAGGCCCA 0.438000 88 67 0 0 0.870114 0 0 MYH8 4626 broad.mit.edu 37 17 10304007 10304007 + Silent SNP T T C TCGA-CV-5441-01A-01D-1512-08 TCGA-CV-5441-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e 79ffab90-e307-45fb-a6ce-0d9aea0b7552 g.chr17:10304007T>C ENST00000403437.2 - 27 3529 c.3435A>G c.(3433-3435)gaA>gaG p.E1145E CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA NM_002472.2 NP_002463.2 P13535 MYH8_HUMAN myosin, heavy chain 8, skeletal muscle, perinatal 1145 muscle filament sliding cytosol|muscle myosin complex|myofibril|myosin filament actin binding|ATP 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 TCTCCTCCAGTTCCCGGGAGA 0.592000 Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling 98 44 0 0 0.870114 0 0 AHNAK2 113146 broad.mit.edu 37 14 105412823 105412823 + Missense_Mutation SNP C C G TCGA-CV-5441-01A-01D-1512-08 TCGA-CV-5441-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e 79ffab90-e307-45fb-a6ce-0d9aea0b7552 g.chr14:105412823C>G ENST00000333244.5 - 7 9084 c.8965G>C c.(8965-8967)Ggg>Cgg p.G2989R AHNAK2_ENST00000557457.1_Intron NM_138420.2 NP_612429.2 Q8IVF2 AHNK2_HUMAN AHNAK nucleoprotein 2 2989 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) GCAGACACCCCGAACGACGGC 0.602000 165 348 0 0 0.870114 0 0 POLN 353497 broad.mit.edu 37 4 2175683 2175683 + Splice_Site SNP C C G TCGA-CV-5441-01A-01D-1512-08 TCGA-CV-5441-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e 79ffab90-e307-45fb-a6ce-0d9aea0b7552 g.chr4:2175683C>G ENST00000511885.2 - 11 1726 c.1374_splice c.e11+1 p.G458_splice POLN_ENST00000515357.1_5'UTR|POLN_ENST00000382865.1_Splice_Site_p.G458_splice Q7Z5Q5 DPOLN_HUMAN polymerase (DNA directed) nu 458 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) ATAACTTACCCCAAGAAGTGC 0.438000 DNA polymerases (catalytic subunits) 130 105 0 0 0.870114 0 0 PHIP 55023 broad.mit.edu 37 6 79770397 79770397 + Missense_Mutation SNP G G T TCGA-CV-5441-01A-01D-1512-08 TCGA-CV-5441-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e 79ffab90-e307-45fb-a6ce-0d9aea0b7552 g.chr6:79770397G>T ENST00000275034.4 - 5 495 c.328C>A c.(328-330)Cgc>Agc p.R110S NM_017934.5 NP_060404.3 Q8WWQ0 PHIP_HUMAN pleckstrin homology domain interacting protein 110 insulin receptor signaling pathway|negative regulation of apoptosis|positive regulation of cell proliferation|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of mitosis nucleus insulin receptor binding NS(1)|breast(1)|central_nervous_system(2)|endometrium(10)|kidney(4)|large_intestine(20)|lung(20)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3) 68 all_cancers(76;0.00125)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.219) BRCA - Breast invasive adenocarcinoma(397;0.231) TTATTTGTGCGTAGTAAAGAC 0.318000 33 38 1.74807e-11 2.1352e-11 0.750413 1 0 PHC1 1911 broad.mit.edu 37 12 9089872 9089872 + Missense_Mutation SNP C C T TCGA-CV-5441-01A-01D-1512-08 TCGA-CV-5441-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e 79ffab90-e307-45fb-a6ce-0d9aea0b7552 g.chr12:9089872C>T ENST00000433083.2 + 12 2588 c.2443C>T c.(2443-2445)Cgc>Tgc p.R815C PHC1_ENST00000543824.1_Missense_Mutation_p.R860C|PHC1_ENST00000544916.1_Missense_Mutation_p.R860C|PHC1_ENST00000536844.1_Missense_Mutation_p.R466C P78364 PHC1_HUMAN polyhomeotic homolog 1 (Drosophila) 860 multicellular organismal development PcG protein complex DNA binding|zinc ion binding breast(2)|cervix(1)|endometrium(5)|large_intestine(8)|liver(2)|lung(3)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1) 27 TGGACCCCGCCGCAGCTCCTC 0.522000 5 11 0 0 0.184627 0 0 ZNF597 146434 broad.mit.edu 37 16 3487215 3487215 + Missense_Mutation SNP C C A TCGA-CV-5441-01A-01D-1512-08 TCGA-CV-5441-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e 79ffab90-e307-45fb-a6ce-0d9aea0b7552 g.chr16:3487215C>A ENST00000301744.4 - 4 719 c.484G>T c.(484-486)Gac>Tac p.D162Y LA16c-306E5.2_ENST00000575785.1_RNA NM_152457.1 NP_689670.1 Q96LX8 ZN597_HUMAN zinc finger protein 597 162 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)|urinary_tract(1) 13 AAGTTTTGGTCACACTCAGGA 0.368000 67 191 4.15811e-52 6.90866e-52 0.870114 1 0 FUBP1 8880 broad.mit.edu 37 1 78429830 78429830 + Nonsense_Mutation SNP C C A TCGA-CV-5441-01A-01D-1512-08 TCGA-CV-5441-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e 79ffab90-e307-45fb-a6ce-0d9aea0b7552 g.chr1:78429830C>A ENST00000370767.1 - 12 1045 c.958G>T c.(958-960)Gaa>Taa p.E320* FUBP1_ENST00000436586.2_Nonsense_Mutation_p.E341*|FUBP1_ENST00000370768.2_Nonsense_Mutation_p.E320* Q96AE4 FUBP1_HUMAN far upstream element (FUSE) binding protein 1 320 KH 3. transcription from RNA polymerase II promoter nucleus protein binding|RNA binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding central_nervous_system(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|upper_aerodigestive_tract(3) 17 GCTATCCTTTCGGGTGTTGTC 0.348000 """F, N""" oligodendroglioma 70 161 8.65233e-54 1.44656e-53 0.870114 1 0 EDAR 10913 broad.mit.edu 37 2 109547447 109547447 + Silent SNP C C A TCGA-CV-5441-01A-01D-1512-08 TCGA-CV-5441-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e 79ffab90-e307-45fb-a6ce-0d9aea0b7552 g.chr2:109547447C>A ENST00000409271.1 - 3 467 c.24G>T c.(22-24)acG>acT p.T8T EDAR_ENST00000376651.1_Silent_p.T8T|EDAR_ENST00000258443.2_Silent_p.T8T Q9UNE0 EDAR_HUMAN ectodysplasin A receptor 8 apoptosis|cell differentiation integral to membrane protein binding|transmembrane receptor activity NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1) 16 AGGGCGTCTGCGTGCAGTCCC 0.627000 54 112 3.31993e-32 5.11862e-32 0.870114 1 0 EPB41L3 23136 broad.mit.edu 37 18 5397093 5397093 + Missense_Mutation SNP G G T TCGA-CV-5441-01A-01D-1512-08 TCGA-CV-5441-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e 79ffab90-e307-45fb-a6ce-0d9aea0b7552 g.chr18:5397093G>T ENST00000341928.2 - 18 3145 c.2805C>A c.(2803-2805)caC>caA p.H935Q EPB41L3_ENST00000427684.2_Missense_Mutation_p.H232Q|EPB41L3_ENST00000540638.2_Missense_Mutation_p.H713Q|EPB41L3_ENST00000544123.1_Missense_Mutation_p.H766Q|EPB41L3_ENST00000542652.2_5'UTR|EPB41L3_ENST00000400111.3_Missense_Mutation_p.H713Q|EPB41L3_ENST00000542146.1_Missense_Mutation_p.H240Q|EPB41L3_ENST00000342933.3_Missense_Mutation_p.H935Q NM_012307.2 NP_036439.2 Q9Y2J2 E41L3_HUMAN erythrocyte membrane protein band 4.1-like 3 935 Carboxyl-terminal (CTD). 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 TTTCTGAAATGTGGATGGCTG 0.438000 221 96 1.58895e-58 2.68167e-58 0.870114 1 0 TMC1 117531 broad.mit.edu 37 9 75445586 75445586 + Missense_Mutation SNP G G T TCGA-CV-5441-01A-01D-1512-08 TCGA-CV-5441-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e 79ffab90-e307-45fb-a6ce-0d9aea0b7552 g.chr9:75445586G>T ENST00000297784.5 + 23 2788 c.2248G>T c.(2248-2250)Gct>Tct p.A750S TMC1_ENST00000486417.1_3'UTR|TMC1_ENST00000340019.3_Missense_Mutation_p.A750S|TMC1_ENST00000396237.3_Missense_Mutation_p.A750S NM_138691.2 NP_619636.2 Q8TDI8 TMC1_HUMAN transmembrane channel-like 1 750 Poly-Ala. 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 GAAAATGGCAGCTGCACGAGC 0.318000 9 33 0.00829132 0.00861331 0.361761 1 0 PLCXD3 345557 broad.mit.edu 37 5 41382389 41382389 + Missense_Mutation SNP G G T TCGA-CV-5441-01A-01D-1512-08 TCGA-CV-5441-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e 79ffab90-e307-45fb-a6ce-0d9aea0b7552 g.chr5:41382389G>T ENST00000377801.3 - 2 425 c.351C>A c.(349-351)ttC>ttA p.F117L PLCXD3_ENST00000328457.3_Missense_Mutation_p.F117L Q63HM9 PLCX3_HUMAN phosphatidylinositol-specific phospholipase C, X domain containing 3 117 PI-PLC X-box. intracellular signal transduction|lipid catabolic process phospholipase C activity|signal transducer activity central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 37 CTTTGGCACTGAACAAACCAT 0.448000 57 116 3.89483e-19 5.37045e-19 0.870114 1 0 CXCR3 2833 broad.mit.edu 37 X 70836725 70836725 + Silent SNP G G A TCGA-CV-5441-01A-01D-1512-08 TCGA-CV-5441-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e 79ffab90-e307-45fb-a6ce-0d9aea0b7552 g.chrX:70836725G>A ENST00000373691.4 - 2 901 c.738C>T c.(736-738)aaC>aaT p.N246N CXCR3_ENST00000373693.3_Silent_p.N199N NM_001142797.1 NP_001136269.1 P49682 CXCR3_HUMAN chemokine (C-X-C motif) receptor 3 199 cell adhesion|cellular component movement|chemotaxis|elevation of cytosolic calcium ion concentration cytoplasm|integral to plasma membrane C-X-C chemokine receptor activity breast(1)|central_nervous_system(2)|large_intestine(2)|lung(3)|ovary(2) 10 Renal(35;0.156) AGTGGGTGGCGTTGAGGCGCT 0.662000 7 3 0 0 0.307466 0 0 LOC645166 645166 broad.mit.edu 37 1 148932902 148932902 + RNA SNP C C A TCGA-CV-5441-01A-01D-1512-08 TCGA-CV-5441-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e 79ffab90-e307-45fb-a6ce-0d9aea0b7552 g.chr1:148932902C>A ENST00000539543.1 + 0 158 NR_027355.1 AGTCTGCGGCCAAGACTCCGT 0.607000 12 235 1.00905e-13 1.26426e-13 0.575678 1 0 LRP2 4036 broad.mit.edu 37 2 170013897 170013897 + Silent SNP G G A TCGA-CV-5441-01A-01D-1512-08 TCGA-CV-5441-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e 79ffab90-e307-45fb-a6ce-0d9aea0b7552 g.chr2:170013897G>A ENST00000263816.3 - 64 12288 c.12003C>T c.(12001-12003)gaC>gaT p.D4001D NM_004525.2 NP_004516.2 P98164 LRP2_HUMAN low density lipoprotein receptor-related protein 2 4001 EGF-like 14. hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process coated pit|integral to membrane|lysosome calcium ion binding|receptor activity|SH3 domain binding 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) AGGAGGTTCTGTCAAAAACAT 0.383000 19 39 0 0 0.592651 0 0 COG4 25839 broad.mit.edu 37 16 70530226 70530226 + Missense_Mutation SNP T T A TCGA-CV-5441-01A-01D-1512-08 TCGA-CV-5441-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e 79ffab90-e307-45fb-a6ce-0d9aea0b7552 g.chr16:70530226T>A ENST00000323786.5 - 12 1611 c.1590A>T c.(1588-1590)caA>caT p.Q530H NM_001195139.1|NM_015386.2 NP_001182068.1|NP_056201.2 Q9H9E3 COG4_HUMAN component of oligomeric golgi complex 4 526 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) CAAATTTGCCTTGCTGGAGGC 0.547000 15 74 0 0 0.520397 0 0 AKAP1 8165 broad.mit.edu 37 17 55183669 55183669 + Missense_Mutation SNP G G A TCGA-CV-5441-01A-01D-1512-08 TCGA-CV-5441-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e 79ffab90-e307-45fb-a6ce-0d9aea0b7552 g.chr17:55183669G>A ENST00000337714.3 + 2 1077 c.844G>A c.(844-846)Gac>Aac p.D282N AKAP1_ENST00000314126.3_Missense_Mutation_p.D282N|AKAP1_ENST00000572557.1_Missense_Mutation_p.D282N|AKAP1_ENST00000571629.1_Missense_Mutation_p.D282N|AKAP1_ENST00000539273.1_Missense_Mutation_p.D282N NM_003488.3 NP_003479.1 Q92667 AKAP1_HUMAN A kinase (PRKA) anchor protein 1 282 blood coagulation cytosol|integral to membrane|mitochondrial outer membrane protein binding|RNA binding endometrium(2)|liver(1)|lung(7)|ovary(2)|pancreas(1)|skin(1) 14 Breast(9;5.46e-08) GCTGGCAAAGGACGATGCGGC 0.577000 52 111 0 0 0.870114 0 0 NYAP2 57624 broad.mit.edu 37 2 226446802 226446802 + Silent SNP G G A TCGA-CV-5441-01A-01D-1512-08 TCGA-CV-5441-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e 79ffab90-e307-45fb-a6ce-0d9aea0b7552 g.chr2:226446802G>A ENST00000272907.6 + 4 1082 c.669G>A c.(667-669)ccG>ccA p.P223P NYAP2_ENST00000409269.2_Intron NM_020864.1 NP_065915.1 Q9P242 K1486_HUMAN neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 2 223 CGTCGCTGCCGCGGGACTCCT 0.582000 16 211 0 0 0.520397 0 0 NFKBID 84807 broad.mit.edu 37 19 36381394 36381394 + Splice_Site SNP T T A TCGA-CV-5441-01A-01D-1512-08 TCGA-CV-5441-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e 79ffab90-e307-45fb-a6ce-0d9aea0b7552 g.chr19:36381394T>A ENST00000396901.1 - 10 1180 c.e10-2 NFKBID_ENST00000340950.2_Splice_Site|NFKBID_ENST00000606253.1_Splice_Site|NFKBID_ENST00000352614.2_Splice_Site NM_139239.1 NP_640332.1 Q8NI38 IKBD_HUMAN nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, delta inflammatory response nucleus breast(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|urinary_tract(1) 14 CTTGATCTCCTGAGGGGAAGG 0.617000 49 87 0 0 0.870114 0 0 PPAN-P2RY11 692312 broad.mit.edu 37 19 10221172 10221172 + Missense_Mutation SNP G G A TCGA-CV-5441-01A-01D-1512-08 TCGA-CV-5441-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e 79ffab90-e307-45fb-a6ce-0d9aea0b7552 g.chr19:10221172G>A ENST00000428358.1 + 10 1085 c.913G>A c.(913-915)Gag>Aag p.E305K PPAN_ENST00000253107.7_Missense_Mutation_p.E305K|PPAN_ENST00000556468.1_Missense_Mutation_p.E305K|PPAN_ENST00000393793.1_Missense_Mutation_p.E252K|PPAN-P2RY11_ENST00000393796.4_Missense_Mutation_p.E305K NM_001040664.2|NM_001198690.1 NP_001035754.1|NP_001185619.1 Q9NQ55 SSF1_HUMAN 305 RNA splicing nucleolus protein binding breast(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 31 OV - Ovarian serous cystadenocarcinoma(20;2.19e-08)|Epithelial(33;1.76e-05)|all cancers(31;3.54e-05) GAGCAAGACGGAGGAGGAGCT 0.657000 6 19 0 0 0.217242 0 0 OR6A2 8590 broad.mit.edu 37 11 6815970 6815970 + Missense_Mutation SNP T T C TCGA-CV-5441-01A-01D-1512-08 TCGA-CV-5441-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e 79ffab90-e307-45fb-a6ce-0d9aea0b7552 g.chr11:6815970T>C ENST00000332601.3 - 1 1158 c.970A>G c.(970-972)Agc>Ggc p.S324G NM_003696.2 NP_003687.2 O95222 OR6A2_HUMAN olfactory receptor, family 6, subfamily A, member 2 324 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(4)|pancreas(1)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2) 29 Medulloblastoma(188;0.0523)|all_neural(188;0.236) Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129) ACATTTCTGCTAGCTTTCTTG 0.443000 19 81 0 0 0.557998 0 0 C1orf168 199920 broad.mit.edu 37 1 57257960 57257960 + Missense_Mutation SNP C C A TCGA-CV-5441-01A-01D-1512-08 TCGA-CV-5441-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e 79ffab90-e307-45fb-a6ce-0d9aea0b7552 g.chr1:57257960C>A ENST00000343433.6 - 2 606 c.526G>T c.(526-528)Ggg>Tgg p.G176W C1orf168_ENST00000484327.1_5'UTR NM_001004303.4 NP_001004303.3 Q5VWT5 CA168_HUMAN chromosome 1 open reading frame 168 176 NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|skin(6)|stomach(1)|urinary_tract(2) 46 GGAGTAAGCCCCATGCCTTTT 0.488000 66 120 1.17004e-41 1.89116e-41 0.870114 1 0 FOXD4L5 653427 broad.mit.edu 37 9 70177139 70177139 + Missense_Mutation SNP G G T TCGA-CV-5441-01A-01D-1512-08 TCGA-CV-5441-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e 79ffab90-e307-45fb-a6ce-0d9aea0b7552 g.chr9:70177139G>T ENST00000377420.1 - 1 1676 c.845C>A c.(844-846)cCg>cAg p.P282Q NM_001126334.1 NP_001119806.1 Q5VV16 FX4L5_HUMAN forkhead box D4-like 5 282 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)|lung(2) 7 TGCTTTCTTCGGTGCCCCGGC 0.677000 17 97 3.08376e-08 3.57877e-08 0.654019 1 0 LRRTM1 347730 broad.mit.edu 37 2 80530450 80530450 + Silent SNP C C G TCGA-CV-5441-01A-01D-1512-08 TCGA-CV-5441-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e 79ffab90-e307-45fb-a6ce-0d9aea0b7552 g.chr2:80530450C>G ENST00000295057.3 - 2 1151 c.495G>C c.(493-495)acG>acC p.T165T CTNNA2_ENST00000496558.1_Intron|CTNNA2_ENST00000402739.4_Intron|CTNNA2_ENST00000361291.4_Intron|CTNNA2_ENST00000540488.1_Intron|CTNNA2_ENST00000541047.1_Intron|CTNNA2_ENST00000466387.1_Intron|LRRTM1_ENST00000409148.1_Silent_p.T165T NM_178839.4 NP_849161.2 Q86UE6 LRRT1_HUMAN leucine rich repeat transmembrane neuronal 1 165 axon|endoplasmic reticulum membrane|growth cone|integral to membrane NS(1)|breast(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(33)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2) 63 GCATATGCAGCGTGGTGAGCT 0.622000 HNSCC(69;0.2) 21 59 0 0 0.667858 0 0 WDR46 9277 broad.mit.edu 37 6 33254975 33254975 + Missense_Mutation SNP T T C TCGA-CV-5441-01A-01D-1512-08 TCGA-CV-5441-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e 79ffab90-e307-45fb-a6ce-0d9aea0b7552 g.chr6:33254975T>C ENST00000374617.4 - 9 1264 c.908A>G c.(907-909)gAt>gGt p.D303G NM_001164267.1|NM_005452.5 NP_001157739.1|NP_005443.3 O15213 WDR46_HUMAN WD repeat domain 46 303 NS(1)|breast(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(1) 20 CACTGACACATCCAGGTAGGT 0.517000 120 61 0 0 0.870114 0 0 TBKBP1 9755 broad.mit.edu 37 17 45785830 45785830 + Missense_Mutation SNP C C A TCGA-CV-5441-01A-01D-1512-08 TCGA-CV-5441-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e 79ffab90-e307-45fb-a6ce-0d9aea0b7552 g.chr17:45785830C>A ENST00000361722.3 + 7 1792 c.943C>A c.(943-945)Cag>Aag p.Q315K NM_014726.2 NP_055541.1 A7MCY6 TBKB1_HUMAN TBK1 binding protein 1 315 innate immune response endometrium(5)|kidney(1)|lung(1) 7 GAGTTCCCTACAGGGGAGAAT 0.652000 17 41 3.32936e-07 3.82233e-07 0.539581 1 0 RBFADN 100506070 broad.mit.edu 37 18 77794529 77794529 + Missense_Mutation SNP C C T TCGA-CV-5441-01A-01D-1512-08 TCGA-CV-5441-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e 79ffab90-e307-45fb-a6ce-0d9aea0b7552 g.chr18:77794529C>T ENST00000569722.1 + 1 184 c.34C>T c.(34-36)Cgc>Tgc p.R12C RBFA_ENST00000306735.5_Missense_Mutation_p.R12C|RBFA_ENST00000586847.1_3'UTR|RBFA_ENST00000262197.7_Missense_Mutation_p.R12C GTGGCGCTCCCGCGCGGGTCT 0.716000 12 11 0 0 0.435327 0 0 ELK4 2005 broad.mit.edu 37 1 205585757 205585757 + Missense_Mutation SNP T T C TCGA-CV-5441-01A-01D-1512-08 TCGA-CV-5441-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e 79ffab90-e307-45fb-a6ce-0d9aea0b7552 g.chr1:205585757T>C ENST00000357992.4 - 5 1552 c.1213A>G c.(1213-1215)Aac>Gac p.N405D NM_001973.3 NP_001964.2 ELK4, ETS-domain protein (SRF accessory protein 1) SLC45A3/ELK4(18) breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|skin(1) 12 Breast(84;0.07) BRCA - Breast invasive adenocarcinoma(75;0.0908) CCATGACTGTTCAGTACAGAA 0.438000 T SLC45A3 prostate 22 85 0 0 0.624587 0 0 ABCA12 26154 broad.mit.edu 37 2 215843554 215843554 + Missense_Mutation SNP C C T rs28940568 TCGA-CV-5441-01A-01D-1512-08 TCGA-CV-5441-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e 79ffab90-e307-45fb-a6ce-0d9aea0b7552 g.chr2:215843554C>T ENST00000272895.7 - 32 5170 c.4951G>A c.(4951-4953)Ggc>Agc p.G1651S ABCA12_ENST00000389661.4_Missense_Mutation_p.G1333S NM_173076.2 NP_775099.2 Q86UK0 ABCAC_HUMAN ATP-binding cassette, sub-family A (ABC1), member 12 1651 G -> S (in LI2; dbSNP:rs28940568). 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) TCTGAAATGCCGTAGCACCCG 0.458000 30 90 0 0 0.760397 0 0 COL22A1 169044 broad.mit.edu 37 8 139620234 139620234 + Splice_Site SNP T T G TCGA-CV-5441-01A-01D-1512-08 TCGA-CV-5441-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e 79ffab90-e307-45fb-a6ce-0d9aea0b7552 g.chr8:139620234T>G ENST00000303045.6 - 57 4425 c.e57-2 COL22A1_ENST00000341807.4_Splice_Site|COL22A1_ENST00000435777.1_Splice_Site NM_152888.1 NP_690848.1 Q8NFW1 COMA1_HUMAN collagen, type XXII, alpha 1 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) ATTCTTGCCCTGGTGGAAGAA 0.517000 HNSCC(7;0.00092) 21 108 0 0 0.575678 0 0 KRTAP19-3 337970 broad.mit.edu 37 21 31864056 31864056 + Nonsense_Mutation SNP C C A TCGA-CV-5441-01A-01D-1512-08 TCGA-CV-5441-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e 79ffab90-e307-45fb-a6ce-0d9aea0b7552 g.chr21:31864056C>A ENST00000334063.4 - 1 219 c.220G>T c.(220-222)Gga>Tga p.G74* NM_181609.3 NP_853640.1 Q7Z4W3 KR193_HUMAN keratin associated protein 19-3 74 intermediate filament large_intestine(1)|lung(7)|upper_aerodigestive_tract(1) 9 AATCCATATCCTCCATAGTAT 0.473000 67 147 1.40369e-38 2.24171e-38 0.870114 1 0 CEP192 55125 broad.mit.edu 37 18 13053023 13053023 + Silent SNP G G T TCGA-CV-5441-01A-01D-1512-08 TCGA-CV-5441-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e 79ffab90-e307-45fb-a6ce-0d9aea0b7552 g.chr18:13053023G>T ENST00000506447.1 + 18 3203 c.3123G>T c.(3121-3123)acG>acT p.T1041T CEP192_ENST00000430049.2_Silent_p.T566T|CEP192_ENST00000325971.8_Silent_p.T445T NM_032142.3 NP_115518.3 B7ZMF0 B7ZMF0_HUMAN centrosomal protein 192kDa 636 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 GCAGGCTGACGTATGTGTCTG 0.562000 83 458 1.45872e-26 2.17992e-26 0.870114 1 0 RFX1 5989 broad.mit.edu 37 19 14074050 14074050 + Missense_Mutation SNP C C A TCGA-CV-5441-01A-01D-1512-08 TCGA-CV-5441-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e 79ffab90-e307-45fb-a6ce-0d9aea0b7552 g.chr19:14074050C>A ENST00000254325.4 - 19 2842 c.2608G>T c.(2608-2610)Gcc>Tcc p.A870S NM_002918.4 NP_002909.4 P22670 RFX1_HUMAN regulatory factor X, 1 (influences HLA class II expression) 870 Necessary for dimerization. immune response nucleus DNA binding|protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1) 21 OV - Ovarian serous cystadenocarcinoma(19;6.67e-23) CCGAAGCTGGCGGCGCTGCGC 0.672000 12 30 1.05317e-09 1.24381e-09 0.457914 1 0 KRT72 140807 broad.mit.edu 37 12 52979793 52979793 + Silent SNP G G A TCGA-CV-5441-01A-01D-1512-08 TCGA-CV-5441-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e 79ffab90-e307-45fb-a6ce-0d9aea0b7552 g.chr12:52979793G>A ENST00000293745.2 - 9 1594 c.1509C>T c.(1507-1509)agC>agT p.S503S KRT72_ENST00000537672.2_Silent_p.S503S|KRT72_ENST00000354310.4_Silent_p.S461S|KRT72_ENST00000398066.3_Silent_p.S315S NM_080747.2 NP_542785.1 Q14CN4 K2C72_HUMAN keratin 72 503 Tail. keratin filament structural molecule activity 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) TGGTGGCACAGCTGCTCCCCG 0.562000 98 202 0 0 0.870114 0 0 TNNI3K 51086 broad.mit.edu 37 1 75005943 75005943 + Missense_Mutation SNP C C A TCGA-CV-5441-01A-01D-1512-08 TCGA-CV-5441-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e 79ffab90-e307-45fb-a6ce-0d9aea0b7552 g.chr1:75005943C>A ENST00000370891.2 + 26 2696 c.2680C>A c.(2680-2682)Ctg>Atg p.L894M TNNI3K_ENST00000465473.1_3'UTR|FPGT-TNNI3K_ENST00000557284.1_Missense_Mutation_p.L894M|TNNI3K_ENST00000326637.3_Missense_Mutation_p.L793M NM_001112808.2 NP_001106279.1 TNNI3 interacting kinase p.L793M(1) cervix(1)|endometrium(3)|kidney(5)|large_intestine(21)|lung(31)|ovary(4)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(3) 76 CTCTCAAGGTCTGTCTTTGGA 0.348000 22 61 5.35356e-11 6.4363e-11 0.639603 1 0 MMP19 4327 broad.mit.edu 37 12 56232343 56232343 + Silent SNP A A C TCGA-CV-5441-01A-01D-1512-08 TCGA-CV-5441-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e 79ffab90-e307-45fb-a6ce-0d9aea0b7552 g.chr12:56232343A>C ENST00000409200.3 - 5 801 c.696T>G c.(694-696)ccT>ccG p.P232P MMP19_ENST00000548629.1_Intron|MMP19_ENST00000322569.4_Intron Q99542 MMP19_HUMAN matrix metallopeptidase 19 429 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 CAGGATCAGCAGGCTGCCCCC 0.582000 20 37 0 0 0.608945 0 0 ABCC9 10060 broad.mit.edu 37 12 21970133 21970133 + Nonsense_Mutation SNP C C A TCGA-CV-5441-01A-01D-1512-08 TCGA-CV-5441-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e 79ffab90-e307-45fb-a6ce-0d9aea0b7552 g.chr12:21970133C>A ENST00000261200.4 - 31 3879 c.3880G>T c.(3880-3882)Gaa>Taa p.E1294* ABCC9_ENST00000345162.2_Nonsense_Mutation_p.E1258*|ABCC9_ENST00000261201.4_Nonsense_Mutation_p.E1294* NM_020297.2 NP_064693.2 O60706 ABCC9_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 9 1294 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) ATTGTGCCTTCATAGTTCTCT 0.378000 75 204 1.42748e-55 2.40157e-55 0.870114 1 0 KNDC1 85442 broad.mit.edu 37 10 135011841 135011841 + Splice_Site SNP G G T TCGA-CV-5441-01A-01D-1512-08 TCGA-CV-5441-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e 79ffab90-e307-45fb-a6ce-0d9aea0b7552 g.chr10:135011841G>T ENST00000304613.3 + 13 1928 c.1906_splice c.e13-1 p.G636_splice KNDC1_ENST00000368571.2_Splice_Site_p.G571_splice|KNDC1_ENST00000368572.2_Splice_Site_p.G636_splice Q76NI1 VKIND_HUMAN kinase non-catalytic C-lobe domain (KIND) containing 1 636 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction NS(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(27)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 60 all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203) OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05) GGCTCCCCAGGCTTCCTGCCG 0.721000 5 8 8.12818e-05 8.80279e-05 0.248553 1 0 PLEKHG7 440107 broad.mit.edu 37 12 93134644 93134644 + Missense_Mutation SNP C C A TCGA-CV-5441-01A-01D-1512-08 TCGA-CV-5441-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e 79ffab90-e307-45fb-a6ce-0d9aea0b7552 g.chr12:93134644C>A ENST00000344636.3 + 3 203 c.19C>A c.(19-21)Cta>Ata p.L7I PLEKHG7_ENST00000549856.1_Missense_Mutation_p.L7I NM_001004330.2 NP_001004330.1 Q6ZR37 PKHG7_HUMAN pleckstrin homology domain containing, family G (with RhoGef domain) member 7 7 DH. regulation of Rho protein signal transduction intracellular Rho guanyl-nucleotide exchange factor activity breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1) 17 TATGAATACACTAAGATATCT 0.313000 26 53 2.27525e-19 3.15353e-19 0.667858 1 0 NARG2 79664 broad.mit.edu 37 15 60745949 60745949 + Silent SNP T T A TCGA-CV-5441-01A-01D-1512-08 TCGA-CV-5441-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e 79ffab90-e307-45fb-a6ce-0d9aea0b7552 g.chr15:60745949T>A ENST00000261520.4 - 9 1212 c.978A>T c.(976-978)tcA>tcT p.S326S NARG2_ENST00000439632.1_Silent_p.S189S|NARG2_ENST00000561114.1_Silent_p.S326S NM_024611.4 NP_078887.2 Q659A1 NARG2_HUMAN NMDA receptor regulated 2 326 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 GGGGAAGTGGTGAATTAATAT 0.289000 32 97 0 0 0.769981 0 0 SIPA1L3 23094 broad.mit.edu 37 19 38610472 38610472 + Missense_Mutation SNP G G T TCGA-CV-5441-01A-01D-1512-08 TCGA-CV-5441-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e 79ffab90-e307-45fb-a6ce-0d9aea0b7552 g.chr19:38610472G>T ENST00000222345.6 + 9 3327 c.2818G>T c.(2818-2820)Gcg>Tcg p.A940S NM_015073.1 NP_055888.1 O60292 SI1L3_HUMAN signal-induced proliferation-associated 1 like 3 940 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) CTTCCTACAGGCGACAGAGGG 0.542000 22 44 3.10358e-05 3.39553e-05 0.624587 1 0 ATAD2B 54454 broad.mit.edu 37 2 23977593 23977593 + Missense_Mutation SNP G G A TCGA-CV-5441-01A-01D-1512-08 TCGA-CV-5441-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e 79ffab90-e307-45fb-a6ce-0d9aea0b7552 g.chr2:23977593G>A ENST00000238789.5 - 26 4473 c.4130C>T c.(4129-4131)aCg>aTg p.T1377M ATAD2B_ENST00000474583.1_5'UTR NM_001242338.1|NM_017552.2 NP_001229267.1|NP_060022.1 Q9ULI0 ATD2B_HUMAN ATPase family, AAA domain containing 2B 1377 ATP binding|nucleoside-triphosphatase activity central_nervous_system(1) 1 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) CAGGCTTGTCGTTTTTGCCTG 0.383000 32 57 0 0 0.740014 0 0 SYNE1 23345 broad.mit.edu 37 6 152673332 152673332 + Missense_Mutation SNP C C G TCGA-CV-5441-01A-01D-1512-08 TCGA-CV-5441-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e 79ffab90-e307-45fb-a6ce-0d9aea0b7552 g.chr6:152673332C>G ENST00000367255.5 - 70 12011 c.11410G>C c.(11410-11412)Gtc>Ctc p.V3804L SYNE1_ENST00000423061.1_Missense_Mutation_p.V3789L|SYNE1_ENST00000448038.1_Missense_Mutation_p.V3789L|SYNE1_ENST00000341594.5_Missense_Mutation_p.V3775L|SYNE1_ENST00000265368.4_Missense_Mutation_p.V3804L NM_182961.3 NP_892006.3 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 3804 cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex 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) TCTTTCCGGACAGTGCTGGTC 0.453000 HNSCC(10;0.0054) 204 184 0 0 0.870114 0 0 ALK 238 broad.mit.edu 37 2 29519791 29519791 + Missense_Mutation SNP G G T TCGA-CV-5441-01A-01D-1512-08 TCGA-CV-5441-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e 79ffab90-e307-45fb-a6ce-0d9aea0b7552 g.chr2:29519791G>T ENST00000389048.3 - 9 2686 c.1780C>A c.(1780-1782)Cag>Aag p.Q594K ALK_ENST00000498037.1_5'UTR|ALK_ENST00000431873.1_Intron NM_004304.4 NP_004295.2 Q9UM73 ALK_HUMAN anaplastic lymphoma receptor tyrosine kinase 594 MAM 2. 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) ACCATCCACTGCCACAGGCTC 0.522000 """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 16 29 0.0558828 0.0573845 0.592651 1 0 ASH1L 55870 broad.mit.edu 37 1 155340374 155340374 + Missense_Mutation SNP C C A TCGA-CV-5441-01A-01D-1512-08 TCGA-CV-5441-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e 79ffab90-e307-45fb-a6ce-0d9aea0b7552 g.chr1:155340374C>A ENST00000368346.3 - 12 7261 c.6622G>T c.(6622-6624)Gtg>Ttg p.V2208L ASH1L_ENST00000392403.3_Missense_Mutation_p.V2203L Q9NR48 ASH1L_HUMAN ash1 (absent, small, or homeotic)-like (Drosophila) 2208 SET. cell-cell signaling|DNA packaging|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter chromosome|Golgi apparatus|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) CTGTCAATCACCATCCCACTA 0.418000 66 100 6.75472e-32 1.03844e-31 0.870114 1 0 TRPA1 8989 broad.mit.edu 37 8 72973870 72973870 + Missense_Mutation SNP T T C TCGA-CV-5441-01A-01D-1512-08 TCGA-CV-5441-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e 79ffab90-e307-45fb-a6ce-0d9aea0b7552 g.chr8:72973870T>C ENST00000262209.4 - 7 1141 c.934A>G c.(934-936)Atg>Gtg p.M312V NM_007332.2 NP_015628.2 O75762 TRPA1_HUMAN transient receptor potential cation channel, subfamily A, member 1 312 integral to plasma membrane NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(26)|lung(44)|ovary(4)|prostate(6)|stomach(1) 98 Epithelial(68;0.223) Menthol(DB00825) CTGTGAAGCATGGTCTCATGA 0.423000 91 77 0 0 0.870114 0 0 SIRPB1 10326 broad.mit.edu 37 20 1585397 1585397 + Missense_Mutation SNP T T C rs148754551 by1000genomes TCGA-CV-5441-01A-01D-1512-08 TCGA-CV-5441-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e 79ffab90-e307-45fb-a6ce-0d9aea0b7552 g.chr20:1585397T>C ENST00000279477.7 - 3 806 c.742A>G c.(742-744)Acc>Gcc p.T248A RP4-576H24.4_ENST00000564763.1_Intron|SIRPB1_ENST00000568365.1_Missense_Mutation_p.T248A|SIRPB1_ENST00000381603.3_Intron|SIRPB1_ENST00000381605.4_Intron NM_001135844.2 NP_001129316.1 O00241 SIRB1_HUMAN signal-regulatory protein beta 1 248 cell junction assembly|cell surface receptor linked signaling pathway integral to plasma membrane protein binding p.T248A(5) central_nervous_system(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1) 31 CCTCGGATGGTCTCAGACAAG 0.627000 5 48 0 0 0.217242 0 0 XXYLT1 152002 broad.mit.edu 37 3 194947466 194947466 + Silent SNP C C T TCGA-CV-5441-01A-01D-1512-08 TCGA-CV-5441-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e 79ffab90-e307-45fb-a6ce-0d9aea0b7552 g.chr3:194947466C>T ENST00000310380.6 - 2 732 c.624G>A c.(622-624)tcG>tcA p.S208S XXYLT1_ENST00000429994.1_Silent_p.S62S NM_152531.4 NP_689744.3 Q8NBI6 CC021_HUMAN xyloside xylosyltransferase 1 208 integral to membrane transferase activity, transferring glycosyl groups GCATGGCGACCGAGAGGAAGA 0.537000 6 90 0 0 0.217242 0 0 ZBTB4 57659 broad.mit.edu 37 17 7370091 7370091 + Silent SNP C C T TCGA-CV-5441-01A-01D-1512-08 TCGA-CV-5441-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e 79ffab90-e307-45fb-a6ce-0d9aea0b7552 g.chr17:7370091C>T ENST00000311403.4 - 3 369 c.30G>A c.(28-30)ccG>ccA p.P10P ZBTB4_ENST00000380599.4_Silent_p.P10P NM_020899.3 NP_065950.2 Q9P1Z0 ZBTB4_HUMAN zinc finger and BTB domain containing 4 10 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) GGGCATGGGACGGGTCCGTCA 0.657000 2 0 0 0 0.115264 0 0 RUNX2 860 broad.mit.edu 37 6 45405777 45405777 + Missense_Mutation SNP G G T rs104893991 TCGA-CV-5441-01A-01D-1512-08 TCGA-CV-5441-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e 79ffab90-e307-45fb-a6ce-0d9aea0b7552 g.chr6:45405777G>T ENST00000371438.1 + 4 1032 c.674G>T c.(673-675)cGg>cTg p.R225L RUNX2_ENST00000576263.1_Missense_Mutation_p.R225L|RUNX2_ENST00000465038.2_Missense_Mutation_p.R225L|RUNX2_ENST00000352853.5_Missense_Mutation_p.R293L|RUNX2_ENST00000359524.5_Missense_Mutation_p.R211L|RUNX2_ENST00000371436.6_Missense_Mutation_p.R225L|RUNX2_ENST00000371432.3_Missense_Mutation_p.R211L|RUNX2_ENST00000541979.1_Missense_Mutation_p.R293L NM_001024630.3 NP_001019801.3 Q13950 RUNX2_HUMAN runt-related transcription factor 2 225 Runt. R -> L (in CLCD).|R -> Q (in CLCD; interferes with nuclear localization; abolishes DNA binding).|R -> W (in CLCD; interferes with nuclear localization; has severely impaired DNA binding and transactivation). negative regulation of transcription, DNA-dependent|osteoblast differentiation|positive regulation of transcription, DNA-dependent nucleus ATP binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity p.R225L(1)|p.R293L(1) breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(18)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 34 GATGGACCTCGGGAACCCAGA 0.413000 116 78 7.81258e-50 1.29004e-49 0.870114 1 0 PROKR2 128674 broad.mit.edu 37 20 5283103 5283103 + Silent SNP G G T TCGA-CV-5441-01A-01D-1512-08 TCGA-CV-5441-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e 79ffab90-e307-45fb-a6ce-0d9aea0b7552 g.chr20:5283103G>T ENST00000546004.1 - 3 984 c.738C>A c.(736-738)atC>atA p.I246I PROKR2_ENST00000217270.3_Silent_p.I246I Q8NFJ6 PKR2_HUMAN prokineticin receptor 2 246 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 GCTCCCGGGAGATCCTGGCAT 0.587000 HNSCC(71;0.22) 34 66 9.17885e-22 1.32363e-21 0.779181 1 0 UTRN 7402 broad.mit.edu 37 6 144779941 144779941 + Nonsense_Mutation SNP G G T TCGA-CV-5441-01A-01D-1512-08 TCGA-CV-5441-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e 79ffab90-e307-45fb-a6ce-0d9aea0b7552 g.chr6:144779941G>T ENST00000367545.3 + 19 2320 c.2320G>T c.(2320-2322)Gag>Tag p.E774* NM_007124.2 NP_009055.2 P46939 UTRO_HUMAN utrophin 774 Interaction with SYNM. muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane actin binding|calcium ion binding|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 148 Ovarian(120;0.218) OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213) AAATGTTCTGGAGAAGGTTTC 0.328000 123 110 1.00425e-38 1.61344e-38 0.870114 1 0 MIEF1 54471 broad.mit.edu 37 22 39907350 39907350 + Silent SNP C C A TCGA-CV-5441-01A-01D-1512-08 TCGA-CV-5441-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e 79ffab90-e307-45fb-a6ce-0d9aea0b7552 g.chr22:39907350C>A ENST00000325301.2 + 3 475 c.51C>A c.(49-51)ggC>ggA p.G17G SMCR7L_ENST00000402881.1_Silent_p.G17G|SMCR7L_ENST00000404569.1_Silent_p.G17G NM_019008.4 NP_061881.2 Q9NQG6 SMC7L_HUMAN 17 integral to membrane|mitochondrion central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(1)|liver(1)|lung(6)|ovary(1)|skin(1) 16 Melanoma(58;0.04) ATGGCATTGGCACGGCCATTG 0.587000 13 39 2.61681e-11 3.17459e-11 0.457914 1 0 ZNF98 148198 broad.mit.edu 37 19 22586259 22586259 + Missense_Mutation SNP C C A rs138636054 by1000genomes TCGA-CV-5441-01A-01D-1512-08 TCGA-CV-5441-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e 79ffab90-e307-45fb-a6ce-0d9aea0b7552 g.chr19:22586259C>A ENST00000357774.5 - 2 207 c.86G>T c.(85-87)tGc>tTc p.C29F ZNF98_ENST00000601553.1_Missense_Mutation_p.C29F NM_001098626.1 NP_001092096.1 A6NK75 ZNF98_HUMAN zinc finger protein 98 29 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2) 37 all_cancers(12;0.0536)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00542)|Hepatocellular(1079;0.244) GGTGTCCAGGCATTGCCACTC 0.413000 29 99 4.74835e-14 5.99144e-14 0.750413 1 0 VPS13C 54832 broad.mit.edu 37 15 62202492 62202492 + Missense_Mutation SNP A A G TCGA-CV-5441-01A-01D-1512-08 TCGA-CV-5441-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e 79ffab90-e307-45fb-a6ce-0d9aea0b7552 g.chr15:62202492A>G ENST00000261517.5 - 64 8801 c.8728T>C c.(8728-8730)Tgg>Cgg p.W2910R VPS13C_ENST00000395898.3_Missense_Mutation_p.W2867R|VPS13C_ENST00000395896.4_Missense_Mutation_p.W2910R|VPS13C_ENST00000249837.3_Missense_Mutation_p.W2867R NM_020821.2 NP_065872.1 Q709C8 VP13C_HUMAN vacuolar protein sorting 13 homolog C (S. cerevisiae) 2910 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 CTTTCTGGCCAAAATGGAAGG 0.328000 12 36 0 0 0.520397 0 0 SSH2 85464 broad.mit.edu 37 17 27963640 27963640 + Silent SNP T T C TCGA-CV-5441-01A-01D-1512-08 TCGA-CV-5441-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e 79ffab90-e307-45fb-a6ce-0d9aea0b7552 g.chr17:27963640T>C ENST00000269033.3 - 14 1678 c.1527A>G c.(1525-1527)gaA>gaG p.E509E RP11-68I3.2_ENST00000581474.1_RNA|SSH2_ENST00000540801.1_Silent_p.E536E NM_033389.2 NP_203747.2 Q76I76 SSH2_HUMAN slingshot protein phosphatase 2 509 actin cytoskeleton organization|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of lamellipodium assembly cytoplasm|cytoskeleton actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity SSH2/SUZ12(2) breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 39 GGACCATATGTTCCACAAAGA 0.463000 38 159 0 0 0.819951 0 0 AMER2 219287 broad.mit.edu 37 13 25744108 25744108 + Nonsense_Mutation SNP G G T TCGA-CV-5441-01A-01D-1512-08 TCGA-CV-5441-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e 79ffab90-e307-45fb-a6ce-0d9aea0b7552 g.chr13:25744108G>T ENST00000357816.2 - 3 1768 c.1293C>A c.(1291-1293)taC>taA p.Y431* AMER2_ENST00000381853.3_Nonsense_Mutation_p.Y431*|AMER2_ENST00000515384.1_Nonsense_Mutation_p.Y550* APC membrane recruitment protein 2 CGTCCCCGCTGTAGCTATCCC 0.642000 41 23 9.62906e-15 1.22949e-14 0.819951 1 0 SPIN4 139886 broad.mit.edu 37 X 62570269 62570269 + Missense_Mutation SNP G G C TCGA-CV-5441-01A-01D-1512-08 TCGA-CV-5441-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e 79ffab90-e307-45fb-a6ce-0d9aea0b7552 g.chrX:62570269G>C ENST00000374884.2 - 1 954 c.376C>G c.(376-378)Cga>Gga p.R126G SPIN4_ENST00000335144.3_Missense_Mutation_p.R144G|SPIN4-AS1_ENST00000451979.1_RNA Q56A73 SPIN4_HUMAN spindlin family, member 4 144 gamete generation endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|upper_aerodigestive_tract(1) 11 ACAGGAGCTCGCGCCAGGACC 0.478000 54 36 0 0 0.870114 0 0 MGAM 8972 broad.mit.edu 37 7 141765554 141765554 + Missense_Mutation SNP T T A TCGA-CV-5441-01A-01D-1512-08 TCGA-CV-5441-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e 79ffab90-e307-45fb-a6ce-0d9aea0b7552 g.chr7:141765554T>A ENST00000475668.2 + 40 4747 c.4693T>A c.(4693-4695)Tac>Aac p.Y1565N MGAM_ENST00000549489.2_Intron O43451 MGA_HUMAN maltase-glucoamylase (alpha-glucosidase) 1565 Glucoamylase. 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) AGACGCTGAGTACGAGATGTG 0.498000 23 56 0 0 0.667858 0 0 KIF4B 285643 broad.mit.edu 37 5 154394078 154394078 + Missense_Mutation SNP T T C TCGA-CV-5441-01A-01D-1512-08 TCGA-CV-5441-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e 79ffab90-e307-45fb-a6ce-0d9aea0b7552 g.chr5:154394078T>C ENST00000435029.4 + 1 819 c.659T>C c.(658-660)aTa>aCa p.I220T NM_001099293.1 NP_001092763.1 Q2VIQ3 KIF4B_HUMAN kinesin family member 4B 220 Kinesin-motor. I -> L (in Ref. 1; AF241316). 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) ACAATCTCCATAGAGCAAAGA 0.468000 39 83 0 0 0.819951 0 0 COLEC12 81035 broad.mit.edu 37 18 346445 346445 + Missense_Mutation SNP G G A rs140549407 TCGA-CV-5441-01A-01D-1512-08 TCGA-CV-5441-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e 79ffab90-e307-45fb-a6ce-0d9aea0b7552 g.chr18:346445G>A ENST00000400256.3 - 5 1384 c.1177C>T c.(1177-1179)Cgt>Tgt p.R393C NM_130386.2 NP_569057.1 Q5KU26 COL12_HUMAN collectin sub-family member 12 393 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) GAATCCAAACGGATGTTGGCC 0.433000 202 76 0 0 0.870114 0 0 DLX5 1749 broad.mit.edu 37 7 96650315 96650315 + Missense_Mutation SNP C C T TCGA-CV-5441-01A-01D-1512-08 TCGA-CV-5441-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e 79ffab90-e307-45fb-a6ce-0d9aea0b7552 g.chr7:96650315C>T ENST00000222598.4 - 3 1076 c.603G>A c.(601-603)atG>atA p.M201I DLX5_ENST00000493764.1_5'UTR NM_005221.5 NP_005212.1 P56178 DLX5_HUMAN distal-less homeobox 5 201 cell proliferation|endochondral ossification|osteoblast differentiation|positive regulation of transcription, DNA-dependent nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(9)|ovary(1)|prostate(1) 20 all_cancers(62;9.56e-09)|all_epithelial(64;7.38e-09)|Esophageal squamous(72;0.0125)|all_lung(186;0.0855)|Lung NSC(181;0.0858) GCTCCGGGGGCATCTCCCCGT 0.577000 23 63 0 0 0.667858 0 0 GABRA2 2555 broad.mit.edu 37 4 46252598 46252598 + Missense_Mutation SNP C C T TCGA-CV-5441-01A-01D-1512-08 TCGA-CV-5441-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e 79ffab90-e307-45fb-a6ce-0d9aea0b7552 g.chr4:46252598C>T ENST00000510861.1 - 10 1256 c.1083G>A c.(1081-1083)atG>atA p.M361I GABRA2_ENST00000507069.1_Missense_Mutation_p.M421I|GABRA2_ENST00000381620.4_Missense_Mutation_p.M361I|GABRA2_ENST00000514090.1_Missense_Mutation_p.M361I|GABRA2_ENST00000540012.1_Missense_Mutation_p.M366I|GABRA2_ENST00000356504.1_Missense_Mutation_p.M361I P47869 GBRA2_HUMAN gamma-aminobutyric acid (GABA) A receptor, alpha 2 361 gamma-aminobutyric acid signaling pathway|neurotransmitter transport|regulation of neurotransmitter levels cell junction|chloride channel complex|integral to synaptic vesicle membrane|postsynaptic membrane benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1) 56 Alprazolam(DB00404)|Bromazepam(DB01558)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Fludiazepam(DB01567)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683) TGTTCTGTATCATAACGGAAG 0.398000 8 105 0 0 0.335167 0 0 MACF1 23499 broad.mit.edu 37 1 39720017 39720017 + Missense_Mutation SNP G G T TCGA-CV-5441-01A-01D-1512-08 TCGA-CV-5441-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e 79ffab90-e307-45fb-a6ce-0d9aea0b7552 g.chr1:39720017G>T ENST00000564288.1 + 5 1182 c.405G>T c.(403-405)caG>caT p.Q135H MACF1_ENST00000539005.1_Missense_Mutation_p.Q140H|MACF1_ENST00000545844.1_Missense_Mutation_p.Q140H|MACF1_ENST00000361689.2_Missense_Mutation_p.Q140H|MACF1_ENST00000567887.1_Missense_Mutation_p.Q172H|RP11-420K8.1_ENST00000289890.7_RNA|MACF1_ENST00000317713.7_Missense_Mutation_p.Q140H|MACF1_ENST00000372915.3_Missense_Mutation_p.Q140H|MACF1_ENST00000536367.1_Missense_Mutation_p.Q103H Q9UPN3 MACF1_HUMAN microtubule-actin crosslinking factor 1 140 Actin-binding.|CH 1. cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing Golgi apparatus|microtubule|ruffle membrane actin filament binding|ATPase activity|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) AGAATGTGCAGATTGCCCTGG 0.478000 34 80 2.94152e-06 3.32007e-06 0.804634 1 0 PTPRS 5802 broad.mit.edu 37 19 5218496 5218496 + Missense_Mutation SNP G G A TCGA-CV-5441-01A-01D-1512-08 TCGA-CV-5441-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e 79ffab90-e307-45fb-a6ce-0d9aea0b7552 g.chr19:5218496G>A ENST00000372412.4 - 25 4219 c.3986C>T c.(3985-3987)gCc>gTc p.A1329V PTPRS_ENST00000588012.1_Missense_Mutation_p.A1306V|PTPRS_ENST00000587303.1_Missense_Mutation_p.A1328V|PTPRS_ENST00000588552.1_5'UTR|PTPRS_ENST00000592099.1_Missense_Mutation_p.A897V|PTPRS_ENST00000348075.2_Missense_Mutation_p.A1306V|PTPRS_ENST00000357368.4_Missense_Mutation_p.A1328V|PTPRS_ENST00000262963.6_Missense_Mutation_p.A1324V|PTPRS_ENST00000353284.2_Missense_Mutation_p.A897V Q13332 PTPRS_HUMAN protein tyrosine phosphatase, receptor type, S 1328 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) GGCGAGGTCGGCATTGTTCAG 0.527000 6 347 0 0 0.248553 0 0 MUC6 4588 broad.mit.edu 37 11 1016760 1016760 + Missense_Mutation SNP G G T TCGA-CV-5441-01A-01D-1512-08 TCGA-CV-5441-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e 79ffab90-e307-45fb-a6ce-0d9aea0b7552 g.chr11:1016760G>T ENST00000421673.2 - 31 6091 c.6041C>A c.(6040-6042)aCc>aAc p.T2014N NM_005961.2 NP_005952.2 Q6W4X9 MUC6_HUMAN mucin 6, oligomeric mucus/gel-forming 2014 Thr-rich. maintenance of gastrointestinal epithelium extracellular region extracellular matrix structural constituent breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 80 all_cancers(49;3.3e-08)|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;0.229) all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703) CACCAAGGAGGTGGAGAAAGG 0.537000 65 1040 1.54707e-10 1.85163e-10 0.870114 1 0 C1R 715 broad.mit.edu 37 12 7241888 7241888 + Splice_Site SNP C C T rs112305412 TCGA-CV-5441-01A-01D-1512-08 TCGA-CV-5441-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e 79ffab90-e307-45fb-a6ce-0d9aea0b7552 g.chr12:7241888C>T ENST00000542285.1 - 5 915 c.e5+1 P00736 C1R_HUMAN complement component 1, r subcomponent complement activation, classical pathway|innate immune response|proteolysis extracellular region calcium ion binding|serine-type endopeptidase activity endometrium(4)|kidney(1)|large_intestine(4)|lung(6)|pancreas(1) 16 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) GACGGCTGTACCTGTAGCTGG 0.592000 13 20 0 0 0.411799 0 0 PIP5K1B 8395 broad.mit.edu 37 9 71503929 71503929 + Silent SNP G G A TCGA-CV-5441-01A-01D-1512-08 TCGA-CV-5441-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e 79ffab90-e307-45fb-a6ce-0d9aea0b7552 g.chr9:71503929G>A ENST00000265382.3 + 7 656 c.351G>A c.(349-351)ctG>ctA p.L117L PIP5K1B_ENST00000541509.1_Silent_p.L117L NM_003558.2 NP_003549.1 O14986 PI51B_HUMAN phosphatidylinositol-4-phosphate 5-kinase, type I, beta 117 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) TAATAGAACTGTCTAACCCTG 0.383000 54 130 0 0 0.870114 0 0 OR2L2 26246 broad.mit.edu 37 1 248202460 248202460 + Missense_Mutation SNP G G A TCGA-CV-5441-01A-01D-1512-08 TCGA-CV-5441-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e 79ffab90-e307-45fb-a6ce-0d9aea0b7552 g.chr1:248202460G>A ENST00000366479.2 + 1 987 c.891G>A c.(889-891)atG>atA p.M297I OR2L13_ENST00000366478.2_Intron NM_001004686.2 NP_001004686.1 Q8NH16 OR2L2_HUMAN olfactory receptor, family 2, subfamily L, member 2 297 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(28)|ovary(1)|skin(4)|urinary_tract(1) 42 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) AGGAGGTGATGGGGGCCCTGA 0.453000 17 94 0 0 0.539581 0 0 MDH1B 130752 broad.mit.edu 37 2 207621698 207621698 + Missense_Mutation SNP C C T TCGA-CV-5441-01A-01D-1512-08 TCGA-CV-5441-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e 79ffab90-e307-45fb-a6ce-0d9aea0b7552 g.chr2:207621698C>T ENST00000374412.3 - 4 612 c.337G>A c.(337-339)Ggg>Agg p.G113R MDH1B_ENST00000454776.2_Missense_Mutation_p.G113R|MDH1B_ENST00000449792.1_Missense_Mutation_p.G15R|MDH1B_ENST00000392214.2_Missense_Mutation_p.G113R NM_001039845.1 NP_001034934.1 Q5I0G3 MDH1B_HUMAN malate dehydrogenase 1B, NAD (soluble) 113 carbohydrate metabolic process|malate metabolic process|tricarboxylic acid cycle binding|malate dehydrogenase activity NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(14)|ovary(4)|stomach(1) 34 LUSC - Lung squamous cell carcinoma(261;0.0763)|Epithelial(149;0.131)|Lung(261;0.145) ATATGTGCCCCCAGGTTCTCT 0.443000 31 76 0 0 0.729181 0 0 LPHN3 23284 broad.mit.edu 37 4 62845283 62845283 + Missense_Mutation SNP C C A TCGA-CV-5441-01A-01D-1512-08 TCGA-CV-5441-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e 79ffab90-e307-45fb-a6ce-0d9aea0b7552 g.chr4:62845283C>A ENST00000512091.1 + 17 3351 c.2604C>A c.(2602-2604)caC>caA p.H868Q LPHN3_ENST00000506720.1_Missense_Mutation_p.H936Q|LPHN3_ENST00000511324.1_Missense_Mutation_p.H936Q|LPHN3_ENST00000507164.1_Missense_Mutation_p.H936Q|LPHN3_ENST00000509896.1_Missense_Mutation_p.H936Q|LPHN3_ENST00000514996.1_Missense_Mutation_p.H868Q|LPHN3_ENST00000506700.1_Missense_Mutation_p.H868Q|LPHN3_ENST00000545650.1_Missense_Mutation_p.H868Q|LPHN3_ENST00000508693.1_Missense_Mutation_p.H936Q|LPHN3_ENST00000504896.1_Missense_Mutation_p.H868Q|LPHN3_ENST00000514157.1_Missense_Mutation_p.H868Q|LPHN3_ENST00000508946.1_Missense_Mutation_p.H868Q|LPHN3_ENST00000507625.1_Missense_Mutation_p.H936Q|LPHN3_ENST00000506746.1_Missense_Mutation_p.H936Q|LPHN3_ENST00000514591.1_Missense_Mutation_p.H868Q Q9HAR2 LPHN3_HUMAN latrophilin 3 855 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity|sugar binding 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 GTTTCCAGCACAGTGATGCGG 0.413000 146 86 7.32983e-86 1.24491e-85 0.870114 1 0 SPATA31D5P 347127 broad.mit.edu 37 9 84534417 84534417 + RNA SNP C C A TCGA-CV-5441-01A-01D-1512-08 TCGA-CV-5441-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e 79ffab90-e307-45fb-a6ce-0d9aea0b7552 g.chr9:84534417C>A ENST00000527857.1 + 0 4439 NR_026851.1 CAGAGCAGAGCCTTTCCAGGG 0.507000 11 18 4.68919e-08 5.43012e-08 0.361761 1 0 RAC2 5880 broad.mit.edu 37 22 37627347 37627347 + Missense_Mutation SNP G G T TCGA-CV-5441-01A-01D-1512-08 TCGA-CV-5441-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e 79ffab90-e307-45fb-a6ce-0d9aea0b7552 g.chr22:37627347G>T ENST00000249071.6 - 5 493 c.372C>A c.(370-372)gaC>gaA p.D124E RAC2_ENST00000406508.1_Missense_Mutation_p.D80E|RAC2_ENST00000405484.1_Missense_Mutation_p.D117E NM_002872.3 NP_002863.1 P15153 RAC2_HUMAN ras-related C3 botulinum toxin substrate 2 (rho family, small GTP binding protein Rac2) 124 axon guidance|platelet activation|regulation of hydrogen peroxide metabolic process|regulation of respiratory burst|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|plasma membrane GTP binding|GTPase activity|protein binding breast(3)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|skin(2)|upper_aerodigestive_tract(1) 12 TCTCGATGGTGTCCTTGTCGT 0.637000 35 54 4.65686e-17 6.15166e-17 0.788014 1 0 KLRC3 3823 broad.mit.edu 37 12 10569334 10569334 + Nonsense_Mutation SNP C C T TCGA-CV-5441-01A-01D-1512-08 TCGA-CV-5441-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e 79ffab90-e307-45fb-a6ce-0d9aea0b7552 g.chr12:10569334C>T ENST00000396439.2 - 5 563 c.519G>A c.(517-519)tgG>tgA p.W173* KLRC3_ENST00000381903.2_Nonsense_Mutation_p.W173*|NKG2-E_ENST00000539033.1_Nonsense_Mutation_p.W173*|KLRC3_ENST00000381904.2_Nonsense_Mutation_p.W173* NM_002261.2 NP_002252.2 killer cell lectin-like receptor subfamily C, member 3 large_intestine(2)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 11 ACACACCAATCCATGAGGAAG 0.289000 26 40 0 0 0.693898 0 0 ADAMTS18 170692 broad.mit.edu 37 16 77375634 77375634 + Silent SNP G G C TCGA-CV-5441-01A-01D-1512-08 TCGA-CV-5441-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e 79ffab90-e307-45fb-a6ce-0d9aea0b7552 g.chr16:77375634G>C ENST00000282849.5 - 11 2095 c.1677C>G c.(1675-1677)ccC>ccG p.P559P NM_199355.2 NP_955387.1 Q8TE60 ATS18_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 18 559 Disintegrin. 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 CTTCTGCTGCGGGCATAAACT 0.418000 14 43 0 0 0.575678 0 0 REN 5972 broad.mit.edu 37 1 204131245 204131245 + Silent SNP G G T rs121917741 TCGA-CV-5441-01A-01D-1512-08 TCGA-CV-5441-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e 79ffab90-e307-45fb-a6ce-0d9aea0b7552 g.chr1:204131245G>T ENST00000367195.2 - 2 188 c.145C>A c.(145-147)Cga>Aga p.R49R REN_ENST00000272190.8_Silent_p.R49R P00797 RENI_HUMAN renin 49 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) TCCACACCTCGTTCCTTCAGG 0.542000 OREG0014128 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 8 31 0.000673444 0.000709237 0.361761 1 0 WNK4 65266 broad.mit.edu 37 17 40937377 40937377 + Silent SNP G G T TCGA-CV-5441-01A-01D-1512-08 TCGA-CV-5441-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e 79ffab90-e307-45fb-a6ce-0d9aea0b7552 g.chr17:40937377G>T ENST00000246914.5 + 6 1374 c.1353G>T c.(1351-1353)ccG>ccT p.P451P WNK4_ENST00000587705.1_3'UTR NM_032387.4 NP_115763.2 Q96J92 WNK4_HUMAN WNK lysine deficient protein kinase 4 451 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) GCGAGAAGCCGGGCCTCAAGC 0.706000 7 16 0.000274275 0.000290569 0.307466 1 0 TRIM22 10346 broad.mit.edu 37 11 5717794 5717794 + Missense_Mutation SNP A A G TCGA-CV-5441-01A-01D-1512-08 TCGA-CV-5441-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e 79ffab90-e307-45fb-a6ce-0d9aea0b7552 g.chr11:5717794A>G ENST00000379965.3 + 2 609 c.332A>G c.(331-333)gAt>gGt p.D111G TRIM5_ENST00000380027.1_Intron NM_001199573.1|NM_006074.4 NP_001186502.1|NP_006065.2 Q8IYM9 TRI22_HUMAN tripartite motif containing 22 111 immune response|interspecies interaction between organisms|protein trimerization|response to virus Cajal body|Golgi apparatus|nuclear speck ligase activity|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding kidney(3)|large_intestine(8)|lung(9)|prostate(1)|stomach(2) 23 Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212) Epithelial(150;7.54e-09)|BRCA - Breast invasive adenocarcinoma(625;0.14) TGTAAGGAGGATGGAAAAGTC 0.483000 31 56 0 0 0.729181 0 0 SLC25A20 788 broad.mit.edu 37 3 48896061 48896061 + Missense_Mutation SNP G G C TCGA-CV-5441-01A-01D-1512-08 TCGA-CV-5441-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e 79ffab90-e307-45fb-a6ce-0d9aea0b7552 g.chr3:48896061G>C ENST00000319017.4 - 8 920 c.722C>G c.(721-723)cCt>cGt p.P241R SLC25A20_ENST00000430379.1_Missense_Mutation_p.P168R|SLC25A20_ENST00000544097.1_Missense_Mutation_p.P191R NM_000387.5 NP_000378.1 O43772 MCAT_HUMAN solute carrier family 25 (carnitine/acylcarnitine translocase), member 20 241 carnitine shuttle|cellular lipid metabolic process|regulation of fatty acid oxidation integral to membrane|mitochondrial inner membrane acyl carnitine transporter activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(5)|prostate(1) 13 BRCA - Breast invasive adenocarcinoma(193;0.000168)|Kidney(197;0.00231)|KIRC - Kidney renal clear cell carcinoma(197;0.00258) L-Carnitine(DB00583) TTTCCCAGGAGGTGCTGTGGG 0.483000 25 107 0 0 0.681144 0 0 ZNF280A 129025 broad.mit.edu 37 22 22868460 22868460 + Nonsense_Mutation SNP G G A TCGA-CV-5441-01A-01D-1512-08 TCGA-CV-5441-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e 79ffab90-e307-45fb-a6ce-0d9aea0b7552 g.chr22:22868460G>A ENST00000302097.3 - 2 1747 c.1495C>T c.(1495-1497)Cag>Tag p.Q499* NM_080740.3 NP_542778.1 P59817 Z280A_HUMAN zinc finger protein 280A 499 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) GATCCTGGCTGAACTGAAGTT 0.413000 47 99 0 0 0.870114 0 0 MED23 9439 broad.mit.edu 37 6 131946091 131946091 + Silent SNP A A G TCGA-CV-5441-01A-01D-1512-08 TCGA-CV-5441-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e 79ffab90-e307-45fb-a6ce-0d9aea0b7552 g.chr6:131946091A>G ENST00000403834.3 - 4 371 c.198T>C c.(196-198)ttT>ttC p.F66F MED23_ENST00000540546.1_Silent_p.F66F|MED23_ENST00000368058.1_Silent_p.F66F|MED23_ENST00000368060.3_Silent_p.F66F|MED23_ENST00000354577.4_Silent_p.F66F|MED23_ENST00000539158.1_Silent_p.F66F|MED23_ENST00000368068.3_Silent_p.F66F|MED23_ENST00000368053.4_Silent_p.F66F Q9ULK4 MED23_HUMAN mediator complex subunit 23 66 regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter transcription factor complex protein binding|transcription coactivator activity NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(12)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 44 Breast(56;0.0753) GBM - Glioblastoma multiforme(226;0.0115)|OV - Ovarian serous cystadenocarcinoma(155;0.0608) GACCATGAATAAACTTAACAA 0.378000 39 190 0 0 0.834066 0 0 EHD3 30845 broad.mit.edu 37 2 31489393 31489393 + Silent SNP C C T TCGA-CV-5441-01A-01D-1512-08 TCGA-CV-5441-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e 79ffab90-e307-45fb-a6ce-0d9aea0b7552 g.chr2:31489393C>T ENST00000322054.5 + 6 1716 c.1431C>T c.(1429-1431)ccC>ccT p.P477P EHD3_ENST00000541626.1_3'UTR NM_014600.2 NP_055415.1 Q9NZN3 EHD3_HUMAN EH-domain containing 3 477 EF-hand.|EH. blood coagulation|endocytic recycling|protein homooligomerization nucleus|plasma membrane|recycling endosome membrane ATP binding|calcium ion binding|GTP binding|GTPase activity|nucleic acid binding|protein binding NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(11)|lung(12)|ovary(1)|skin(3) 33 Acute lymphoblastic leukemia(172;0.155) CCAAGCTGCCCAACAGTGTGC 0.552000 30 67 0 0 0.717897 0 0 TMEM132D 121256 broad.mit.edu 37 12 130185032 130185032 + Silent SNP G G A TCGA-CV-5441-01A-01D-1512-08 TCGA-CV-5441-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e 79ffab90-e307-45fb-a6ce-0d9aea0b7552 g.chr12:130185032G>A ENST00000422113.2 - 2 617 c.291C>T c.(289-291)taC>taT p.Y97Y NM_133448.2 NP_597705.2 Q14C87 T132D_HUMAN transmembrane protein 132D 97 integral to membrane p.Y97Y(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) AGAAAGGCCCGTAGCTGGCAT 0.488000 30 52 0 0 0.706142 0 0 PCDH15 65217 broad.mit.edu 37 10 56077052 56077052 + Silent SNP G G T TCGA-CV-5441-01A-01D-1512-08 TCGA-CV-5441-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e 79ffab90-e307-45fb-a6ce-0d9aea0b7552 g.chr10:56077052G>T ENST00000373965.2 - 8 1249 c.855C>A c.(853-855)gcC>gcA p.A285A PCDH15_ENST00000373955.1_Silent_p.A285A|PCDH15_ENST00000395432.2_Silent_p.A248A|PCDH15_ENST00000395446.1_Silent_p.A285A|PCDH15_ENST00000361849.3_Silent_p.A285A|PCDH15_ENST00000395433.1_Silent_p.A263A|PCDH15_ENST00000373957.3_Silent_p.A263A|PCDH15_ENST00000409834.1_Intron|PCDH15_ENST00000437009.1_Silent_p.A285A|PCDH15_ENST00000320301.6_Silent_p.A285A|PCDH15_ENST00000414778.1_Silent_p.A290A|PCDH15_ENST00000395442.1_Silent_p.A285A|PCDH15_ENST00000395440.1_Silent_p.A285A|PCDH15_ENST00000395445.1_Silent_p.A285A|PCDH15_ENST00000395430.1_Silent_p.A285A|PCDH15_ENST00000395438.1_Silent_p.A285A NM_001142771.1|NM_001142772.1 NP_001136243.1|NP_001136244.1 Q96QU1 PCD15_HUMAN protocadherin-related 15 285 Cadherin 3. 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.A285A(2)|p.A290A(2) 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) ACTCAGGTATGGCAGCTTGAT 0.413000 HNSCC(58;0.16) 29 34 4.74835e-14 5.99144e-14 0.750413 1 0 CHRNA10 57053 broad.mit.edu 37 11 3688905 3688905 + Missense_Mutation SNP C C G TCGA-CV-5441-01A-01D-1512-08 TCGA-CV-5441-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e 79ffab90-e307-45fb-a6ce-0d9aea0b7552 g.chr11:3688905C>G ENST00000250699.2 - 4 523 c.452G>C c.(451-453)cGc>cCc p.R151P CHRNA10_ENST00000534359.1_5'UTR NM_020402.2 NP_065135.2 Q9GZZ6 ACH10_HUMAN cholinergic receptor, nicotinic, alpha 10 (neuronal) 151 elevation of cytosolic calcium ion concentration|regulation of cell proliferation|synaptic transmission, cholinergic cell junction|postsynaptic membrane calcium channel activity|receptor activity|receptor binding breast(1)|endometrium(2)|lung(3)|ovary(1) 7 Medulloblastoma(188;0.0075)|Breast(177;0.0164)|all_neural(188;0.0577) BRCA - Breast invasive adenocarcinoma(625;0.0344)|LUSC - Lung squamous cell carcinoma(625;0.192) Chloroprocaine(DB01161)|Methadone(DB00333)|Nicotine(DB00184)|Pentolinium(DB01090)|Procaine(DB00721)|Trimethaphan(DB01116) GCACGAGCTGCGCGTGATGGC 0.711000 5 17 0 0 0.248553 0 0 KCNJ3 3760 broad.mit.edu 37 2 155555407 155555407 + Silent SNP G G A TCGA-CV-5441-01A-01D-1512-08 TCGA-CV-5441-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e 79ffab90-e307-45fb-a6ce-0d9aea0b7552 g.chr2:155555407G>A ENST00000295101.2 + 1 597 c.120G>A c.(118-120)aaG>aaA p.K40K KCNJ3_ENST00000544049.1_Silent_p.K40K NM_001260509.1|NM_002239.3 NP_001247438.1|NP_002230.1 P48549 IRK3_HUMAN potassium inwardly-rectifying channel, subfamily J, member 3 40 K -> R (in dbSNP:rs16838016). synaptic transmission voltage-gated potassium channel complex G-protein activated inward rectifier potassium channel activity|protein binding breast(2)|endometrium(2)|kidney(3)|large_intestine(9)|lung(30)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 54 Halothane(DB01159) TTGTGCCCAAGAAGAAGCGGC 0.617000 24 44 0 0 0.740014 0 0 NCOA7 135112 broad.mit.edu 37 6 126210575 126210575 + Missense_Mutation SNP G G T rs138843029 TCGA-CV-5441-01A-01D-1512-08 TCGA-CV-5441-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e 79ffab90-e307-45fb-a6ce-0d9aea0b7552 g.chr6:126210575G>T ENST00000368357.3 + 10 1727 c.1375G>T c.(1375-1377)Gtg>Ttg p.V459L NCOA7_ENST00000392477.2_Missense_Mutation_p.V459L|NCOA7_ENST00000229634.9_Missense_Mutation_p.V344L NM_001199619.1|NM_001199620.1 NP_001186548.1|NP_001186549.1 Q8NI08 NCOA7_HUMAN nuclear receptor coactivator 7 459 cell wall macromolecule catabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(6)|lung(16)|ovary(1)|skin(1)|soft_tissue(1)|urinary_tract(2) 39 UCEC - Uterine corpus endometrioid carcinoma (4;0.0803)|GBM - Glioblastoma multiforme(226;0.0193)|all cancers(137;0.237) CAATTCTGCCGTGGAAATGCA 0.453000 41 162 1.7489e-18 2.36279e-18 0.859065 1 0 KBTBD6 89890 broad.mit.edu 37 13 41706215 41706215 + Missense_Mutation SNP A A T TCGA-CV-5441-01A-01D-1512-08 TCGA-CV-5441-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e 79ffab90-e307-45fb-a6ce-0d9aea0b7552 g.chr13:41706215A>T ENST00000379485.1 - 1 667 c.433T>A c.(433-435)Tac>Aac p.Y145N KBTBD6_ENST00000499385.2_Missense_Mutation_p.Y79N NM_152903.4 NP_690867.3 Q86V97 KBTB6_HUMAN kelch repeat and BTB (POZ) domain containing 6 145 protein binding NS(1)|breast(1)|endometrium(8)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|skin(4)|urinary_tract(4) 43 Lung NSC(96;4.52e-06)|Breast(139;0.00123)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114) all cancers(112;4.08e-09)|Epithelial(112;4.74e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000131)|GBM - Glioblastoma multiforme(144;0.000876)|BRCA - Breast invasive adenocarcinoma(63;0.0673) GAGGCCGCGTACAGGCGCTCC 0.597000 35 40 0 0 0.796494 0 0 PIK3CG 5294 broad.mit.edu 37 7 106509367 106509367 + Missense_Mutation SNP C C A TCGA-CV-5441-01A-01D-1512-08 TCGA-CV-5441-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e 79ffab90-e307-45fb-a6ce-0d9aea0b7552 g.chr7:106509367C>A ENST00000359195.3 + 2 1671 c.1361C>A c.(1360-1362)tCc>tAc p.S454Y PIK3CG_ENST00000496166.1_Missense_Mutation_p.S454Y|PIK3CG_ENST00000440650.2_Missense_Mutation_p.S454Y NM_002649.2 NP_002640.2 P48736 PK3CG_HUMAN phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma 454 G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation phosphatidylinositol 3-kinase complex 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 132 AGTTCTGAGTCCAAGGGCAAA 0.532000 39 99 1.30998e-17 1.73906e-17 0.812448 1 0 OR10H5 284433 broad.mit.edu 37 19 15905710 15905710 + Silent SNP C C A TCGA-CV-5441-01A-01D-1512-08 TCGA-CV-5441-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e 79ffab90-e307-45fb-a6ce-0d9aea0b7552 g.chr19:15905710C>A ENST00000308940.8 + 1 950 c.852C>A c.(850-852)ccC>ccA p.P284P NM_001004466.1 NP_001004466.1 Q8NGA6 O10H5_HUMAN olfactory receptor, family 10, subfamily H, member 5 284 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(9)|ovary(1) 20 TCCTCACACCCTTCCTCAGCC 0.527000 22 44 4.47668e-21 6.38673e-21 0.667858 1 0 ABCD1 215 broad.mit.edu 37 X 153009062 153009062 + Missense_Mutation SNP C C A TCGA-CV-5441-01A-01D-1512-08 TCGA-CV-5441-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e 79ffab90-e307-45fb-a6ce-0d9aea0b7552 g.chrX:153009062C>A ENST00000218104.3 + 10 2510 c.2111C>A c.(2110-2112)gCg>gAg p.A704E U52111.14_ENST00000434284.1_RNA NM_000033.3 NP_000024.2 P33897 ABCD1_HUMAN ATP-binding cassette, sub-family D (ALD), member 1 704 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) CAGCAGCTGGCGGGCATTCCC 0.682000 4 2 2.0095e-06 2.28255e-06 0.248553 1 0 RASAL1 8437 broad.mit.edu 37 12 113543660 113543660 + Silent SNP C C A TCGA-CV-5441-01A-01D-1512-08 TCGA-CV-5441-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e 79ffab90-e307-45fb-a6ce-0d9aea0b7552 g.chr12:113543660C>A ENST00000546530.1 - 17 1977 c.1692G>T c.(1690-1692)ccG>ccT p.P564P RASAL1_ENST00000261729.5_Silent_p.P562P|RASAL1_ENST00000548055.1_Silent_p.P563P|RASAL1_ENST00000446861.3_Silent_p.P562P|RASAL1_ENST00000418411.2_5'UTR NM_001193520.1|NM_004658.2 NP_001180449.1|NP_004649.2 O95294 RASL1_HUMAN RAS protein activator like 1 (GAP1 like) 562 intracellular signal transduction|negative regulation of Ras protein signal transduction cytoplasm|intrinsic to internal side of plasma membrane metal ion binding|phospholipid binding|Ras GTPase activator activity 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 TGGCCGAGGGCGGGAACAGGG 0.622000 31 99 1.61788e-16 2.11114e-16 0.760397 1 0 HDDC2 51020 broad.mit.edu 37 6 125614026 125614026 + Silent SNP T T A TCGA-CV-5441-01A-01D-1512-08 TCGA-CV-5441-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e 79ffab90-e307-45fb-a6ce-0d9aea0b7552 g.chr6:125614026T>A ENST00000398153.1 - 4 542 c.339A>T c.(337-339)ctA>ctT p.L113L HDDC2_ENST00000368377.4_Silent_p.L79L NM_016063.2 NP_057147.2 Q7Z4H3 HDDC2_HUMAN HD domain containing 2 113 HD. metal ion binding|phosphoric diester hydrolase activity endometrium(1)|large_intestine(1)|lung(4) 6 LUSC - Lung squamous cell carcinoma(4;0.0263)|Lung(4;0.0828) GBM - Glioblastoma multiforme(226;0.0186) GGTCCTCTGGTAGGAGCTGGG 0.353000 171 135 0 0 0.870114 0 0 FAT2 2196 broad.mit.edu 37 5 150920141 150920141 + Missense_Mutation SNP G G C TCGA-CV-5441-01A-01D-1512-08 TCGA-CV-5441-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e 79ffab90-e307-45fb-a6ce-0d9aea0b7552 g.chr5:150920141G>C ENST00000261800.5 - 10 9038 c.9026C>G c.(9025-9027)cCa>cGa p.P3009R NM_001447.2 NP_001438.1 Q9NYQ8 FAT2_HUMAN FAT atypical cadherin 2 3009 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) TGAACACTGTGGGCTGTTATC 0.537000 11 15 0 0 0.592651 0 0 SATB2 23314 broad.mit.edu 37 2 200173595 200173595 + Missense_Mutation SNP C C T TCGA-CV-5441-01A-01D-1512-08 TCGA-CV-5441-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e 79ffab90-e307-45fb-a6ce-0d9aea0b7552 g.chr2:200173595C>T ENST00000443023.1 - 9 2916 c.1451G>A c.(1450-1452)cGc>cAc p.R484H SATB2_ENST00000417098.1_Missense_Mutation_p.R543H|SATB2_ENST00000457245.1_Missense_Mutation_p.R543H|SATB2_ENST00000428695.1_Missense_Mutation_p.R425H|SATB2_ENST00000260926.5_Missense_Mutation_p.R543H Q9UPW6 SATB2_HUMAN SATB homeobox 2 543 cytoplasm|nuclear matrix sequence-specific DNA binding transcription factor activity breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(40)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 62 GTTCAGGAAGCGACGGATGGT 0.572000 5 112 0 0 0.184627 0 0 TGM6 343641 broad.mit.edu 37 20 2411213 2411213 + Missense_Mutation SNP G G T TCGA-CV-5441-01A-01D-1512-08 TCGA-CV-5441-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e 79ffab90-e307-45fb-a6ce-0d9aea0b7552 g.chr20:2411213G>T ENST00000202625.2 + 11 1861 c.1800G>T c.(1798-1800)aaG>aaT p.K600N TGM6_ENST00000381423.1_Missense_Mutation_p.K600N NM_198994.2 NP_945345.2 O95932 TGM3L_HUMAN transglutaminase 6 600 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) TGGTGGAGAAGGACATTACTC 0.512000 22 59 0.000175454 0.000188869 0.592651 1 0 INO80B 83444 broad.mit.edu 37 2 74684871 74684871 + Silent SNP G G C TCGA-CV-5441-01A-01D-1512-08 TCGA-CV-5441-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e 79ffab90-e307-45fb-a6ce-0d9aea0b7552 g.chr2:74684871G>C ENST00000233331.7 + 5 1045 c.951G>C c.(949-951)ccG>ccC p.P317P NM_031288.3 NP_112578.2 Q9C086 IN80B_HUMAN INO80 complex subunit B 317 DNA recombination|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent Ino80 complex|nucleolus metal ion binding|protein binding endometrium(1)|large_intestine(2)|lung(5)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1) 13 GTCCCCATCCGCGCCGCTACG 0.701000 17 39 0 0 0.539581 0 0 SIPA1L1 26037 broad.mit.edu 37 14 72200507 72200507 + Silent SNP A A G TCGA-CV-5441-01A-01D-1512-08 TCGA-CV-5441-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e 79ffab90-e307-45fb-a6ce-0d9aea0b7552 g.chr14:72200507A>G ENST00000555818.1 + 19 5397 c.5049A>G c.(5047-5049)gtA>gtG p.V1683V SIPA1L1_ENST00000537413.1_Silent_p.V1137V|SIPA1L1_ENST00000554874.1_3'UTR|SIPA1L1_ENST00000381232.3_Silent_p.V1662V|SIPA1L1_ENST00000358550.2_Silent_p.V1662V NM_015556.1 NP_056371.1 O43166 SI1L1_HUMAN signal-induced proliferation-associated 1 like 1 1683 actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome GTPase activator activity NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1) 78 all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109) CCAACCTGGTAGATGCTGCCA 0.587000 21 42 0 0 0.592651 0 0 BRINP2 57795 broad.mit.edu 37 1 177247890 177247890 + Missense_Mutation SNP C C T TCGA-CV-5441-01A-01D-1512-08 TCGA-CV-5441-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e 79ffab90-e307-45fb-a6ce-0d9aea0b7552 g.chr1:177247890C>T ENST00000361539.4 + 7 1516 c.1204C>T c.(1204-1206)Cgc>Tgc p.R402C FAM5B_ENST00000478325.1_3'UTR NM_021165.2 NP_066988.1 Q9C0B6 FAM5B_HUMAN 402 extracellular region p.R402C(2) breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(21)|liver(1)|lung(41)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1) 94 GCGCTGCCATCGCCAGCCTCG 0.617000 11 57 0 0 0.435327 0 0 TJP2 9414 broad.mit.edu 37 9 71845118 71845118 + Missense_Mutation SNP G G T TCGA-CV-5441-01A-01D-1512-08 TCGA-CV-5441-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e 79ffab90-e307-45fb-a6ce-0d9aea0b7552 g.chr9:71845118G>T ENST00000377245.4 + 11 1849 c.1641G>T c.(1639-1641)gaG>gaT p.E547D TJP2_ENST00000348208.4_Missense_Mutation_p.E547D|TJP2_ENST00000535702.1_Missense_Mutation_p.E551D|TJP2_ENST00000539225.1_Missense_Mutation_p.E578D|TJP2_ENST00000265384.7_Missense_Mutation_p.E547D|TJP2_ENST00000453658.2_Missense_Mutation_p.E524D NM_004817.3 NP_004808.2 Q9UDY2 ZO2_HUMAN tight junction protein 2 547 PDZ 3. cellular component disassembly involved in apoptosis adherens junction|cytoplasm|nucleus|tight junction guanylate kinase activity|protein binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(5)|lung(9)|prostate(3)|skin(3)|soft_tissue(1)|upper_aerodigestive_tract(1) 35 CGGAGCAGGAGGGCCTTCAAG 0.517000 37 55 3.78316e-11 4.56882e-11 0.819951 1 0 TRHDE 29953 broad.mit.edu 37 12 72955994 72955994 + Missense_Mutation SNP G G T TCGA-CV-5441-01A-01D-1512-08 TCGA-CV-5441-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e 79ffab90-e307-45fb-a6ce-0d9aea0b7552 g.chr12:72955994G>T ENST00000261180.4 + 8 1799 c.1703G>T c.(1702-1704)tGg>tTg p.W568L TRHDE_ENST00000549138.1_3'UTR NM_013381.2 NP_037513.1 Q9UKU6 TRHDE_HUMAN thyrotropin-releasing hormone degrading enzyme 568 cell-cell signaling|proteolysis|signal transduction integral to plasma membrane aminopeptidase activity|metallopeptidase activity|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 79 AATGATCTCTGGAATACATTA 0.289000 26 37 0.000227799 0.000243745 0.729181 1 0 LRRTM1 347730 broad.mit.edu 37 2 80530249 80530249 + Silent SNP G G T TCGA-CV-5441-01A-01D-1512-08 TCGA-CV-5441-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e 79ffab90-e307-45fb-a6ce-0d9aea0b7552 g.chr2:80530249G>T ENST00000295057.3 - 2 1352 c.696C>A c.(694-696)ctC>ctA p.L232L CTNNA2_ENST00000496558.1_Intron|CTNNA2_ENST00000402739.4_Intron|CTNNA2_ENST00000361291.4_Intron|CTNNA2_ENST00000540488.1_Intron|CTNNA2_ENST00000541047.1_Intron|CTNNA2_ENST00000466387.1_Intron|LRRTM1_ENST00000409148.1_Silent_p.L232L NM_178839.4 NP_849161.2 Q86UE6 LRRT1_HUMAN leucine rich repeat transmembrane neuronal 1 232 axon|endoplasmic reticulum membrane|growth cone|integral to membrane NS(1)|breast(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(33)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2) 63 GCAGGGAGATGAGGCGCGGGA 0.592000 HNSCC(69;0.2) 59 111 6.09941e-20 8.54236e-20 0.870114 1 0 CEP112 201134 broad.mit.edu 37 17 64059162 64059162 + Missense_Mutation SNP C C A TCGA-CV-5441-01A-01D-1512-08 TCGA-CV-5441-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e 79ffab90-e307-45fb-a6ce-0d9aea0b7552 g.chr17:64059162C>A ENST00000392769.2 - 11 1211 c.993G>T c.(991-993)gaG>gaT p.E331D CEP112_ENST00000535342.2_Missense_Mutation_p.E331D|CEP112_ENST00000537949.1_Missense_Mutation_p.E289D|CEP112_ENST00000541355.1_5'UTR NM_145036.3 NP_659473.2 Q8N8E3 CE112_HUMAN centrosomal protein 112kDa 331 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 CTTCTTTAGTCTCTCTGATAA 0.323000 30 66 2.4375e-19 3.36967e-19 0.717897 1 0 TDRD10 126668 broad.mit.edu 37 1 154516995 154516995 + Splice_Site SNP T T A TCGA-CV-5441-01A-01D-1512-08 TCGA-CV-5441-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e 79ffab90-e307-45fb-a6ce-0d9aea0b7552 g.chr1:154516995T>A ENST00000368482.4 + 10 1635 c.e10+2 TDRD10_ENST00000368480.3_Splice_Site|TDRD10_ENST00000479937.1_Splice_Site NM_001098475.1|NM_182499.3 NP_001091945.1|NP_872305.3 Q5VZ19 TDR10_HUMAN tudor domain containing 10 nucleotide binding|RNA binding 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) CTGGAACAGGTGTGTGCCTGG 0.587000 5 14 0 0 0.278610 0 0 NCAM2 4685 broad.mit.edu 37 21 22849700 22849700 + Missense_Mutation SNP A A G TCGA-CV-5441-01A-01D-1512-08 TCGA-CV-5441-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e 79ffab90-e307-45fb-a6ce-0d9aea0b7552 g.chr21:22849700A>G ENST00000400546.1 + 15 2234 c.1985A>G c.(1984-1986)tAt>tGt p.Y662C NCAM2_ENST00000284894.7_Missense_Mutation_p.Y520C NM_004540.3 NP_004531.2 O15394 NCAM2_HUMAN neural cell adhesion molecule 2 662 Fibronectin type-III 2. YEVQIT -> MKFRLP (in Ref. 1; AAB80803). 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) ACCATGGGGTATGAAGTTCAG 0.403000 34 49 0 0 0.760397 0 0 OR5T2 219464 broad.mit.edu 37 11 55999771 55999771 + Missense_Mutation SNP C C A TCGA-CV-5441-01A-01D-1512-08 TCGA-CV-5441-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e 79ffab90-e307-45fb-a6ce-0d9aea0b7552 g.chr11:55999771C>A ENST00000313264.4 - 1 966 c.891G>T c.(889-891)atG>atT p.M297I NM_001004746.1 NP_001004746.1 Q8NGG2 OR5T2_HUMAN olfactory receptor, family 5, subfamily T, member 2 297 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) GTCTCACATACATGAAGAGGA 0.423000 75 91 7.577e-32 1.16152e-31 0.870114 1 0 NALCN 259232 broad.mit.edu 37 13 101910914 101910914 + Silent SNP C C T TCGA-CV-5441-01A-01D-1512-08 TCGA-CV-5441-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e 79ffab90-e307-45fb-a6ce-0d9aea0b7552 g.chr13:101910914C>T ENST00000251127.6 - 11 1227 c.1146G>A c.(1144-1146)cgG>cgA p.R382R NALCN_ENST00000376196.3_Silent_p.R382R|NALCN_ENST00000470333.1_5'UTR NM_052867.2 NP_443099.1 Q8IZF0 NALCN_HUMAN sodium leak channel, non-selective 382 integral to membrane sodium channel activity|voltage-gated ion channel activity NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 177 all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184) AAACGGATGACCGCATCATTT 0.463000 12 20 0 0 0.387290 0 0 MAPK4 5596 broad.mit.edu 37 18 48248423 48248423 + Missense_Mutation SNP G G C TCGA-CV-5441-01A-01D-1512-08 TCGA-CV-5441-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e 79ffab90-e307-45fb-a6ce-0d9aea0b7552 g.chr18:48248423G>C ENST00000400384.2 + 4 1843 c.807G>C c.(805-807)gaG>gaC p.E269D MAPK4_ENST00000592595.1_Intron|MAPK4_ENST00000540640.1_Missense_Mutation_p.E58D NM_002747.3 NP_002738.2 P31152 MK04_HUMAN mitogen-activated protein kinase 4 269 Protein kinase. cell cycle ATP binding|MAP kinase activity lung(4)|skin(3)|upper_aerodigestive_tract(1) 8 Colorectal(6;0.0297) Colorectal(21;0.156) GCACCTGGGAGGTGAAGAGGC 0.582000 10 20 0 0 0.411799 0 0 LDB3 11155 broad.mit.edu 37 10 88446827 88446827 + Splice_Site SNP G G T TCGA-CV-5441-01A-01D-1512-08 TCGA-CV-5441-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e 79ffab90-e307-45fb-a6ce-0d9aea0b7552 g.chr10:88446827G>T ENST00000429277.2 + 6 836 c.689_splice c.e6-1 p.A231_splice LDB3_ENST00000372056.4_Splice_Site_p.A231_splice|LDB3_ENST00000352360.5_Intron|LDB3_ENST00000542786.1_3'UTR|LDB3_ENST00000372066.3_Splice_Site_p.A116_splice|LDB3_ENST00000263066.6_Splice_Site_p.A116_splice|LDB3_ENST00000361373.4_Intron|LDB3_ENST00000458213.2_Splice_Site_p.A116_splice|LDB3_ENST00000310944.6_Intron NM_001171610.1 NP_001165081.1 O75112 LDB3_HUMAN LIM domain binding 3 231 cytoskeleton|perinuclear region of cytoplasm|pseudopodium zinc ion binding p.A231P(2) breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|soft_tissue(1) 25 CTCCCCCAGCGCCGACTACCA 0.672000 85 264 3.05217e-42 4.97839e-42 0.870114 1 0 AMPH 273 broad.mit.edu 37 7 38505100 38505100 + Missense_Mutation SNP G G C TCGA-CV-5441-01A-01D-1512-08 TCGA-CV-5441-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e 79ffab90-e307-45fb-a6ce-0d9aea0b7552 g.chr7:38505100G>C ENST00000356264.2 - 9 931 c.716C>G c.(715-717)gCc>gGc p.A239G AMPH_ENST00000428293.2_Missense_Mutation_p.A239G|AMPH_ENST00000325590.5_Missense_Mutation_p.A239G NM_001635.3 NP_001626.1 P49418 AMPH_HUMAN amphiphysin 239 BAR. 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 GGCCTTGTCGGCGTGCTGGTC 0.507000 7 5 0 0 0.278610 0 0 CAPS2 84698 broad.mit.edu 37 12 75692714 75692714 + Missense_Mutation SNP C C A TCGA-CV-5441-01A-01D-1512-08 TCGA-CV-5441-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e 79ffab90-e307-45fb-a6ce-0d9aea0b7552 g.chr12:75692714C>A ENST00000393284.3 - 10 849 c.248G>T c.(247-249)gGg>gTg p.G83V CAPS2_ENST00000409799.1_Intron|CAPS2_ENST00000409004.1_Intron|CAPS2_ENST00000442339.2_Intron|CAPS2_ENST00000409445.3_Missense_Mutation_p.G315V Q9BXY5 CAYP2_HUMAN calcyphosine 2 315 calcium ion binding endometrium(2)|large_intestine(1)|lung(4)|ovary(2)|skin(1) 10 GAAAAAGAACCCAATGAGCTC 0.313000 23 47 1.10513e-12 1.3718e-12 0.624587 1 0 PRKD1 5587 broad.mit.edu 37 14 30066892 30066892 + Missense_Mutation SNP G G T TCGA-CV-5441-01A-01D-1512-08 TCGA-CV-5441-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e 79ffab90-e307-45fb-a6ce-0d9aea0b7552 g.chr14:30066892G>T ENST00000331968.5 - 16 2468 c.2239C>A c.(2239-2241)Ccc>Acc p.P747T PRKD1_ENST00000415220.2_Missense_Mutation_p.P755T NM_002742.2 NP_002733.2 Q15139 KPCD1_HUMAN protein kinase D1 747 Protein kinase. cell proliferation|intracellular signal transduction|sphingolipid metabolic process cytosol|integral to plasma membrane ATP binding|metal ion binding|protein binding|protein kinase C activity NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|lung(32)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2) 78 Hepatocellular(127;0.0604) LUAD - Lung adenocarcinoma(48;0.00527)|Lung(238;0.0252) GBM - Glioblastoma multiforme(265;0.00888) AGGTAAGCGGGGGTACCCACC 0.493000 39 84 7.05121e-23 1.0279e-22 0.853193 1 0 SMAD6 4091 broad.mit.edu 37 15 67073771 67073771 + Silent SNP C C T TCGA-CV-5441-01A-01D-1512-08 TCGA-CV-5441-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e 79ffab90-e307-45fb-a6ce-0d9aea0b7552 g.chr15:67073771C>T ENST00000288840.5 + 4 2420 c.1389C>T c.(1387-1389)agC>agT p.S463S SMAD6_ENST00000338426.4_Silent_p.S202S NM_005585.4 NP_005576.3 O43541 SMAD6_HUMAN SMAD family member 6 463 MH2. BMP signaling pathway|immune response|negative regulation of apoptosis|negative regulation of BMP signaling pathway|negative regulation of caspase activity|negative regulation of pathway-restricted SMAD protein phosphorylation|negative regulation of SMAD protein complex assembly|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of S phase of mitotic cell cycle|response to laminar fluid shear stress|transforming growth factor beta receptor signaling pathway|zygotic specification of dorsal/ventral axis cytosol|transcription factor complex co-SMAD binding|I-SMAD binding|R-SMAD binding|sequence-specific DNA binding transcription factor activity|transforming growth factor beta receptor, inhibitory cytoplasmic mediator activity|type I activin receptor binding|type I transforming growth factor beta receptor binding|ubiquitin protein ligase binding lung(1)|skin(1) 2 ACCCCAACAGCGTCCGCATCA 0.682000 12 19 0 0 0.479597 0 0 FAM135B 51059 broad.mit.edu 37 8 139380222 139380222 + Missense_Mutation SNP G G A TCGA-CV-5441-01A-01D-1512-08 TCGA-CV-5441-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e 79ffab90-e307-45fb-a6ce-0d9aea0b7552 g.chr8:139380222G>A ENST00000395297.1 - 2 175 c.5C>T c.(4-6)tCt>tTt p.S2F NM_015912.3 NP_056996.2 Q49AJ0 F135B_HUMAN family with sequence similarity 135, member B 2 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) TTGTATTTCAGACATGATCTT 0.363000 HNSCC(54;0.14) 77 99 0 0 0.870114 0 0 PRKCB 5579 broad.mit.edu 37 16 24231346 24231346 + Missense_Mutation SNP C C A TCGA-CV-5441-01A-01D-1512-08 TCGA-CV-5441-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e 79ffab90-e307-45fb-a6ce-0d9aea0b7552 g.chr16:24231346C>A ENST00000321728.7 + 17 2103 c.1928C>A c.(1927-1929)cCc>cAc p.P643H PRKCB_ENST00000303531.7_3'UTR NM_212535.2 NP_997700.1 P05771 KPCB_HUMAN protein kinase C, beta 643 AGC-kinase C-terminal. apoptosis|B cell activation|B cell receptor signaling pathway|intracellular signal transduction|lipoprotein transport|platelet activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|synaptic transmission|transcription, DNA-dependent cytosol|nucleus|plasma membrane androgen receptor binding|ATP binding|chromatin binding|histone binding|histone kinase activity (H3-T6 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding|zinc ion binding central_nervous_system(3)|large_intestine(1)|lung(2)|ovary(3) 9 Vitamin E(DB00163) GAACTGACCCCCACTGATAAA 0.423000 28 51 4.59853e-10 5.47932e-10 0.693898 1 0 PDE4DIP 9659 broad.mit.edu 37 1 144879382 144879382 + Missense_Mutation SNP C C A TCGA-CV-5441-01A-01D-1512-08 TCGA-CV-5441-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e 79ffab90-e307-45fb-a6ce-0d9aea0b7552 g.chr1:144879382C>A ENST00000369359.4 - 30 4514 c.4476G>T c.(4474-4476)aaG>aaT p.K1492N PDE4DIP_ENST00000369356.4_Missense_Mutation_p.K1356N|PDE4DIP_ENST00000530740.1_Missense_Mutation_p.K1492N|PDE4DIP_ENST00000369354.3_Missense_Mutation_p.K1356N|PDE4DIP_ENST00000524974.1_5'UTR|PDE4DIP_ENST00000313382.9_Missense_Mutation_p.K1312N Q5VU43 MYOME_HUMAN phosphodiesterase 4D interacting protein 1356 cellular protein complex assembly centrosome|Golgi apparatus|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) CTTTGATGTCCTTTCGTAGGA 0.493000 T PDGFRB MPD 74 398 8.07507e-42 1.30914e-41 0.870114 1 0 KMT2D 8085 broad.mit.edu 37 12 49420606 49420606 + Missense_Mutation SNP C C A TCGA-CV-5441-01A-01D-1512-08 TCGA-CV-5441-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e 79ffab90-e307-45fb-a6ce-0d9aea0b7552 g.chr12:49420606C>A ENST00000301067.7 - 48 15142 c.15143G>T c.(15142-15144)cGt>cTt p.R5048L NM_003482.3 NP_003473.3 lysine (K)-specific methyltransferase 2D p.R4778H(1) GTTCAGCAGACGGGCAGGCCC 0.617000 32 83 1.49673e-21 2.14679e-21 0.819951 1 0 LILRB1 10859 broad.mit.edu 37 19 55148089 55148089 + Missense_Mutation SNP C C A TCGA-CV-5441-01A-01D-1512-08 TCGA-CV-5441-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e 79ffab90-e307-45fb-a6ce-0d9aea0b7552 g.chr19:55148089C>A ENST00000396331.1 + 15 2149 c.1792C>A c.(1792-1794)Cag>Aag p.Q598K LILRB1_ENST00000396321.2_Missense_Mutation_p.Q598K|LILRB1_ENST00000418536.2_Missense_Mutation_p.Q582K|LILRB1_ENST00000396315.1_Missense_Mutation_p.Q600K|AC009892.10_ENST00000456337.1_Intron|LILRB1_ENST00000324602.7_Missense_Mutation_p.Q600K|LILRB1_ENST00000396317.1_Missense_Mutation_p.Q582K|LILRB1_ENST00000448689.1_3'UTR|LILRB1_ENST00000396327.3_Missense_Mutation_p.Q599K|LILRB1_ENST00000427581.2_Missense_Mutation_p.Q649K|LILRB1_ENST00000434867.2_Missense_Mutation_p.Q598K|LILRB1_ENST00000462628.1_3'UTR|LILRB1_ENST00000396332.4_Missense_Mutation_p.Q599K NM_006669.3 NP_006660.3 Q8NHL6 LIRB1_HUMAN leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1 598 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) AGAGGACAGGCAGATGGACAC 0.612000 HNSCC(37;0.09) 10 44 2.27111e-07 2.613e-07 0.411799 1 0 MAPK13 5603 broad.mit.edu 37 6 36104684 36104684 + Missense_Mutation SNP G G T TCGA-CV-5441-01A-01D-1512-08 TCGA-CV-5441-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e 79ffab90-e307-45fb-a6ce-0d9aea0b7552 g.chr6:36104684G>T ENST00000211287.4 + 8 901 c.639G>T c.(637-639)atG>atT p.M213I MAPK13_ENST00000373766.5_Intron|MAPK13_ENST00000373761.6_Missense_Mutation_p.M203I|MAPK13_ENST00000373759.1_Intron NM_002754.4 NP_002745.1 O15264 MK13_HUMAN mitogen-activated protein kinase 13 213 Protein kinase. cell cycle|intracellular protein kinase cascade|nerve growth factor receptor signaling pathway|positive regulation of interleukin-6 production|Ras protein signal transduction|response to stress ATP binding|MAP kinase activity|protein binding breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(2)|prostate(2)|skin(1) 12 GCTGTATCATGGCAGAGATGC 0.527000 45 38 5.34276e-22 7.74627e-22 0.870114 1 0 CSMD3 114788 broad.mit.edu 37 8 113326813 113326813 + Missense_Mutation SNP G G A TCGA-CV-5441-01A-01D-1512-08 TCGA-CV-5441-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e 79ffab90-e307-45fb-a6ce-0d9aea0b7552 g.chr8:113326813G>A ENST00000297405.5 - 48 7638 c.7394C>T c.(7393-7395)tCt>tTt p.S2465F CSMD3_ENST00000352409.3_Missense_Mutation_p.S2395F|CSMD3_ENST00000455883.2_Missense_Mutation_p.S2361F|CSMD3_ENST00000343508.3_Missense_Mutation_p.S2425F NM_198123.1 NP_937756.1 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 2465 CUB 14. 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 GACTCCAGTAGAATCTAGCCG 0.388000 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 27 29 0 0 0.788014 0 0 ANLN 54443 broad.mit.edu 37 7 36478884 36478884 + Missense_Mutation SNP A A T TCGA-CV-5441-01A-01D-1512-08 TCGA-CV-5441-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e 79ffab90-e307-45fb-a6ce-0d9aea0b7552 g.chr7:36478884A>T ENST00000265748.2 + 21 3176 c.2955A>T c.(2953-2955)gaA>gaT p.E985D ANLN_ENST00000396068.2_Missense_Mutation_p.E948D NM_018685.2 NP_061155.2 Q9NQW6 ANLN_HUMAN anillin, actin binding protein 985 Localization to the cleavage furrow.|PH. 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 CCAGTGTTGAAGAAAGAGGTT 0.308000 16 28 0 0 0.479597 0 0 XIRP2 129446 broad.mit.edu 37 2 168106303 168106303 + Missense_Mutation SNP C C A TCGA-CV-5441-01A-01D-1512-08 TCGA-CV-5441-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e 79ffab90-e307-45fb-a6ce-0d9aea0b7552 g.chr2:168106303C>A ENST00000409195.1 + 9 8490 c.8401C>A c.(8401-8403)Ccc>Acc p.P2801T XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.P2579T|XIRP2_ENST00000295237.9_Missense_Mutation_p.P2801T|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409728.1_Intron NM_152381.5 NP_689594.4 A4UGR9 XIRP2_HUMAN xin actin-binding repeat containing 2 2626 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 CAAGATGGTTCCCAGGAAGCA 0.408000 29 45 1.06801e-11 1.31052e-11 0.740014 1 0 OR2T11 127077 broad.mit.edu 37 1 248790373 248790373 + Missense_Mutation SNP C C A rs148036216 by1000genomes TCGA-CV-5441-01A-01D-1512-08 TCGA-CV-5441-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e 79ffab90-e307-45fb-a6ce-0d9aea0b7552 g.chr1:248790373C>A ENST00000330803.2 - 1 118 c.57G>T c.(55-57)gaG>gaT p.E19D NM_001001964.1 NP_001001964.1 Q8NH01 O2T11_HUMAN olfactory receptor, family 2, subfamily T, member 11 (gene/pseudogene) 19 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|large_intestine(5)|lung(20)|skin(2) 28 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) TCCCGGCAGCCTCACTGTTCA 0.527000 21 18 2.39187e-15 3.07609e-15 0.575678 1 0 SEMA6D 80031 broad.mit.edu 37 15 48055235 48055235 + Silent SNP A A T TCGA-CV-5441-01A-01D-1512-08 TCGA-CV-5441-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e 79ffab90-e307-45fb-a6ce-0d9aea0b7552 g.chr15:48055235A>T ENST00000316364.5 + 9 1120 c.681A>T c.(679-681)atA>atT p.I227I SEMA6D_ENST00000354744.4_Silent_p.I227I|SEMA6D_ENST00000389432.2_Silent_p.I227I|SEMA6D_ENST00000389425.3_Silent_p.I227I|SEMA6D_ENST00000558816.1_Silent_p.I227I|SEMA6D_ENST00000358066.4_Silent_p.I227I|SEMA6D_ENST00000558014.1_Silent_p.I227I|SEMA6D_ENST00000536845.2_Silent_p.I227I|SEMA6D_ENST00000537942.1_Silent_p.I227I|SEMA6D_ENST00000389428.3_Silent_p.I227I|SEMA6D_ENST00000355997.3_Silent_p.I227I|SEMA6D_ENST00000389433.2_Silent_p.I227I NM_153618.1 NP_705871.1 Q8NFY4 SEM6D_HUMAN sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6D 227 Sema. axon guidance cytoplasm|integral to membrane|plasma membrane receptor activity biliary_tract(1)|breast(4)|endometrium(4)|kidney(5)|large_intestine(10)|lung(42)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4) 77 all_lung(180;0.000635)|Myeloproliferative disorder(241;0.116)|Melanoma(134;0.18) all cancers(107;1.2e-11)|GBM - Glioblastoma multiforme(94;1.2e-06) TTCATGCCATAGAATATGGAA 0.358000 9 43 0 0 0.335167 0 0 HSPG2 3339 broad.mit.edu 37 1 22205106 22205106 + Missense_Mutation SNP G G A TCGA-CV-5441-01A-01D-1512-08 TCGA-CV-5441-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e 79ffab90-e307-45fb-a6ce-0d9aea0b7552 g.chr1:22205106G>A ENST00000374695.3 - 19 2601 c.2522C>T c.(2521-2523)gCc>gTc p.A841V NM_005529.5 NP_005520.4 P98160 PGBM_HUMAN heparan sulfate proteoglycan 2 841 Laminin EGF-like 3. 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) TGGGGCACAGGCGTCACATGT 0.627000 14 21 0 0 0.667858 0 0 BAGE2 85319 broad.mit.edu 37 21 11039369 11039369 + RNA SNP G G T TCGA-CV-5441-01A-01D-1512-08 TCGA-CV-5441-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e 79ffab90-e307-45fb-a6ce-0d9aea0b7552 g.chr21:11039369G>T ENST00000470054.1 - 0 834 B melanoma antigen family, member 2 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) CACTTCAGAAGACATTTTCAT 0.348000 24 441 3.08376e-08 3.57877e-08 0.654019 1 0 TAP2 6891 broad.mit.edu 37 6 32782378 32782378 + Splice_Site SNP A A T TCGA-CV-5441-01A-01D-1512-08 TCGA-CV-5441-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e 79ffab90-e307-45fb-a6ce-0d9aea0b7552 g.chr6:32782378A>T ENST00000452392.2 - 14 2356 c.2182_splice c.e14-1 p.V728_splice HLA-DOB_ENST00000438763.2_Splice_Site_p.V121_splice Q03519 TAP2_HUMAN transporter 2, ATP-binding cassette, sub-family B (MDR/TAP) 0 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 antigen processing and presentation of peptide antigen via MHC class I|positive regulation of T cell mediated cytotoxicity nucleus|plasma membrane|TAP complex ATP binding|MHC class I protein binding|oligopeptide-transporting ATPase activity|peptide antigen binding|peptide antigen-transporting ATPase activity|TAP1 binding|TAP2 binding|tapasin binding CTCTGGTTGCACTAGGAAGGG 0.493000 117 74 0 0 0.870114 0 0 PIK3CG 5294 broad.mit.edu 37 7 106509368 106509368 + Silent SNP C C A TCGA-CV-5441-01A-01D-1512-08 TCGA-CV-5441-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e 79ffab90-e307-45fb-a6ce-0d9aea0b7552 g.chr7:106509368C>A ENST00000359195.3 + 2 1672 c.1362C>A c.(1360-1362)tcC>tcA p.S454S PIK3CG_ENST00000496166.1_Silent_p.S454S|PIK3CG_ENST00000440650.2_Silent_p.S454S NM_002649.2 NP_002640.2 P48736 PK3CG_HUMAN phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma 454 G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation phosphatidylinositol 3-kinase complex 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 132 GTTCTGAGTCCAAGGGCAAAG 0.532000 40 98 1.04594e-18 1.42386e-18 0.819951 1 0 MSL3 10943 broad.mit.edu 37 X 11783734 11783734 + Missense_Mutation SNP C C A TCGA-CV-5441-01A-01D-1512-08 TCGA-CV-5441-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e 79ffab90-e307-45fb-a6ce-0d9aea0b7552 g.chrX:11783734C>A ENST00000337339.2 + 9 1084 c.1057C>A c.(1057-1059)Cgc>Agc p.R353S MSL3_ENST00000361672.2_Missense_Mutation_p.R204S|MSL3_ENST00000398527.2_Missense_Mutation_p.R341S|MSL3_ENST00000380693.3_Missense_Mutation_p.R187S|MSL3_ENST00000312196.4_Missense_Mutation_p.R353S NM_078628.1 NP_523352.1 Q8N5Y2 MS3L1_HUMAN male-specific lethal 3 homolog (Drosophila) 353 histone H4-K16 acetylation|multicellular organismal development|transcription from RNA polymerase II promoter MSL complex DNA binding|methylated histone residue binding|sequence-specific DNA binding transcription factor activity p.R353C(2) breast(1)|central_nervous_system(3)|cervix(1)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|urinary_tract(1) 19 GCGGTCCACGCGCCACAGTGC 0.622000 44 42 8.4772e-36 1.33785e-35 0.870114 1 0 ASTN1 460 broad.mit.edu 37 1 176853475 176853475 + Splice_Site SNP C C A TCGA-CV-5441-01A-01D-1512-08 TCGA-CV-5441-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e 79ffab90-e307-45fb-a6ce-0d9aea0b7552 g.chr1:176853475C>A ENST00000367654.2 - 19 3263 c.3250_splice c.e19+1 p.E1084_splice ASTN1_ENST00000424564.2_Splice_Site_p.E1076_splice|ASTN1_ENST00000367657.3_Splice_Site_p.E1076_splice|ASTN1_ENST00000361833.2_Splice_Site_p.E1076_splice O14525 ASTN1_HUMAN astrotactin 1 1084 Fibronectin type-III 1. cell migration|neuron cell-cell adhesion integral to membrane NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3) 153 AGGTGCTCACCTGTCTCCACT 0.493000 43 90 7.70917e-36 1.22024e-35 0.870114 1 0 DAB2 1601 broad.mit.edu 37 5 39377090 39377090 + Missense_Mutation SNP G G A TCGA-CV-5441-01A-01D-1512-08 TCGA-CV-5441-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e 79ffab90-e307-45fb-a6ce-0d9aea0b7552 g.chr5:39377090G>A ENST00000545653.1 - 11 2266 c.1736C>T c.(1735-1737)cCa>cTa p.P579L DAB2_ENST00000320816.6_Missense_Mutation_p.P600L|DAB2_ENST00000339788.6_Missense_Mutation_p.P382L|DAB2_ENST00000509337.1_Missense_Mutation_p.P579L NM_001244871.1 NP_001231800.1 P98082 DAB2_HUMAN Dab, mitogen-responsive phosphoprotein, homolog 2 (Drosophila) 600 cell proliferation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of protein binding|negative regulation of transcription, DNA-dependent|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of transcription, DNA-dependent|positive regulation of Wnt receptor signaling pathway, planar cell polarity pathway clathrin coated vesicle membrane|coated pit protein C-terminus binding autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(5)|large_intestine(9)|lung(19)|prostate(2)|skin(4)|upper_aerodigestive_tract(2) 47 all_lung(31;0.000197) Epithelial(62;0.137) AGCAGGAGCTGGAAAAATATT 0.572000 OREG0016586 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 48 147 0 0 0.870114 0 0 GRXCR1 389207 broad.mit.edu 37 4 43022369 43022369 + Splice_Site SNP A A T TCGA-CV-5441-01A-01D-1512-08 TCGA-CV-5441-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e 79ffab90-e307-45fb-a6ce-0d9aea0b7552 g.chr4:43022369A>T ENST00000399770.2 + 3 627 c.e3-1 NM_001080476.2 NP_001073945.1 A8MXD5 GRCR1_HUMAN glutaredoxin, cysteine rich 1 cell redox homeostasis|inner ear receptor stereocilium organization|sensory perception of sound|vestibular receptor cell development kinocilium|stereocilium electron carrier activity|protein disulfide oxidoreductase activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(22)|ovary(1)|prostate(2)|skin(1) 32 TCTCGTTAATAGGGTGCTGAG 0.343000 38 22 0 0 0.796494 0 0 HECW1 23072 broad.mit.edu 37 7 43400528 43400528 + Silent SNP G G T TCGA-CV-5441-01A-01D-1512-08 TCGA-CV-5441-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e 79ffab90-e307-45fb-a6ce-0d9aea0b7552 g.chr7:43400528G>T ENST00000395891.1 + 6 1109 c.504G>T c.(502-504)ggG>ggT p.G168G HECW1_ENST00000453890.1_Silent_p.G168G NM_015052.3 NP_055867.3 Q76N89 HECW1_HUMAN HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1 168 protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasm|nucleus ubiquitin-protein ligase activity 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 GAGTGAGTGGGGCCCTGCGAG 0.478000 28 91 5.45727e-16 7.10374e-16 0.729181 1 0 POM121L12 285877 broad.mit.edu 37 7 53103940 53103940 + Silent SNP C C T TCGA-CV-5441-01A-01D-1512-08 TCGA-CV-5441-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e 79ffab90-e307-45fb-a6ce-0d9aea0b7552 g.chr7:53103940C>T ENST00000408890.4 + 1 592 c.576C>T c.(574-576)ttC>ttT p.F192F NM_182595.3 NP_872401.3 Q8N7R1 P1L12_HUMAN POM121 transmembrane nucleoporin-like 12 192 endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 61 GCGCTAGGTTCGACGGGCCGT 0.701000 25 63 0 0 0.740014 0 0 SAMD15 161394 broad.mit.edu 37 14 77845409 77845409 + Missense_Mutation SNP G G A TCGA-CV-5441-01A-01D-1512-08 TCGA-CV-5441-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e 79ffab90-e307-45fb-a6ce-0d9aea0b7552 g.chr14:77845409G>A ENST00000216471.4 + 1 1934 c.1648G>A c.(1648-1650)Gtt>Att p.V550I SAMD15_ENST00000533095.2_Intron NM_001010860.1 NP_001010860.1 Q9P1V8 SAM15_HUMAN sterile alpha motif domain containing 15 550 SAM. breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|pancreas(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 28 TCCAGAGGAAGTTGCAGAGTG 0.428000 33 76 0 0 0.769981 0 0 FOXB2 442425 broad.mit.edu 37 9 79635087 79635087 + Missense_Mutation SNP C C A TCGA-CV-5441-01A-01D-1512-08 TCGA-CV-5441-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e 79ffab90-e307-45fb-a6ce-0d9aea0b7552 g.chr9:79635087C>A ENST00000376708.1 + 1 517 c.517C>A c.(517-519)Ccg>Acg p.P173T NM_001013735.1 NP_001013757.1 Q5VYV0 FOXB2_HUMAN forkhead box B2 173 Poly-Pro. brain development|embryo 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|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)|lung(8)|ovary(1) 10 gcccccgccgccgccgcACAT 0.706000 5 10 0.184627 0.18743 0.184627 1 0 LHX4 89884 broad.mit.edu 37 1 180240538 180240538 + Missense_Mutation SNP C C G TCGA-CV-5441-01A-01D-1512-08 TCGA-CV-5441-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e 79ffab90-e307-45fb-a6ce-0d9aea0b7552 g.chr1:180240538C>G ENST00000263726.2 + 4 719 c.475C>G c.(475-477)Cgg>Ggg p.R159G RP5-1180C10.2_ENST00000415414.1_RNA NM_033343.3 NP_203129.1 Q969G2 LHX4_HUMAN LIM homeobox 4 159 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding endometrium(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1) 16 TGGAGCTAAGCGGCCCCGGAC 0.587000 15 97 0 0 0.520397 0 0 MYH11 4629 broad.mit.edu 37 16 15931989 15931989 + Missense_Mutation SNP C C G TCGA-CV-5441-01A-01D-1512-08 TCGA-CV-5441-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e 79ffab90-e307-45fb-a6ce-0d9aea0b7552 g.chr16:15931989C>G ENST00000338282.6 - 2 227 c.121G>C c.(121-123)Gag>Cag p.E41Q MYH11_ENST00000576790.1_Missense_Mutation_p.E41Q|MYH11_ENST00000452625.2_Missense_Mutation_p.E41Q|MYH11_ENST00000396324.3_Missense_Mutation_p.E41Q|MYH11_ENST00000300036.5_Missense_Mutation_p.E41Q NM_022844.2 NP_074035.1 P35749 MYH11_HUMAN myosin, heavy chain 11, smooth muscle 41 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 actin binding|ATP 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 CCCTGCTTCTCCGAGGGGACC 0.567000 T CBFB AML 38 106 0 0 0.870114 0 0 ZFP90 146198 broad.mit.edu 37 16 68598394 68598394 + Silent SNP C C T TCGA-CV-5441-01A-01D-1512-08 TCGA-CV-5441-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e 79ffab90-e307-45fb-a6ce-0d9aea0b7552 g.chr16:68598394C>T ENST00000570495.1 + 5 1996 c.1704C>T c.(1702-1704)ctC>ctT p.L568L ZFP90_ENST00000398253.2_Silent_p.L568L|RP11-615I2.7_ENST00000571720.1_RNA|ZFP90_ENST00000563169.2_Silent_p.L568L Q8TF47 ZFP90_HUMAN ZFP90 zinc finger protein 568 positive regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 27 Ovarian(137;0.192) OV - Ovarian serous cystadenocarcinoma(108;0.00233)|Epithelial(162;0.0184)|all cancers(182;0.0946) GTTCATCTCTCATTCAGCATG 0.438000 53 119 0 0 0.870114 0 0 ZNF616 90317 broad.mit.edu 37 19 52620044 52620044 + Missense_Mutation SNP G G T TCGA-CV-5441-01A-01D-1512-08 TCGA-CV-5441-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e 79ffab90-e307-45fb-a6ce-0d9aea0b7552 g.chr19:52620044G>T ENST00000600228.1 - 4 634 c.373C>A c.(373-375)Caa>Aaa p.Q125K ZNF616_ENST00000330123.5_3'UTR NM_178523.3 NP_848618.2 Q08AN1 ZN616_HUMAN zinc finger protein 616 125 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(14)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 48 GBM - Glioblastoma multiforme(134;0.00392)|OV - Ovarian serous cystadenocarcinoma(262;0.0189) TGACTATGTTGATCTCTTTTA 0.378000 64 165 1.55088e-19 2.15513e-19 0.870114 1 0 NECAB2 54550 broad.mit.edu 37 16 84024099 84024099 + Splice_Site SNP G G T TCGA-CV-5441-01A-01D-1512-08 TCGA-CV-5441-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e 79ffab90-e307-45fb-a6ce-0d9aea0b7552 g.chr16:84024099G>T ENST00000565691.1 + 4 933 c.210_splice c.e4-1 p.V71_splice NECAB2_ENST00000305202.4_Splice_Site_p.V154_splice Q7Z6G3 NECA2_HUMAN N-terminal EF-hand calcium binding protein 2 154 EF-hand 1. antibiotic biosynthetic process cytoplasm calcium ion binding|oxidoreductase activity|protein binding endometrium(1)|large_intestine(3)|lung(9)|ovary(2)|prostate(1)|stomach(2)|urinary_tract(1) 19 CCTTCCACAGGTATATGAGGG 0.572000 34 63 1.22384e-17 1.62874e-17 0.769981 1 0 OR4D6 219983 broad.mit.edu 37 11 59224522 59224522 + Missense_Mutation SNP T T A TCGA-CV-5441-01A-01D-1512-08 TCGA-CV-5441-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e 79ffab90-e307-45fb-a6ce-0d9aea0b7552 g.chr11:59224522T>A ENST00000300127.2 + 1 112 c.89T>A c.(88-90)gTc>gAc p.V30D NM_001004708.1 NP_001004708.1 Q8NGJ1 OR4D6_HUMAN olfactory receptor, family 4, subfamily D, member 6 30 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 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 TTGTTTGTGGTCTTCTTTGCT 0.463000 92 119 0 0 0.870114 0 0 SNHG14 104472715 broad.mit.edu 37 15 25440148 25440148 + RNA SNP C C A TCGA-CV-5441-01A-01D-1512-08 TCGA-CV-5441-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e 79ffab90-e307-45fb-a6ce-0d9aea0b7552 g.chr15:25440148C>A ENST00000424208.1 + 0 1460 SNHG14_ENST00000456576.1_RNA|SNORD115-14_ENST00000363090.1_RNA NR_003305.1 CGCTGAGGCCCAGCCTAGGTG 0.493000 71 154 2.92363e-43 4.78332e-43 0.870114 1 0 CCER1 196477 broad.mit.edu 37 12 91347314 91347314 + Missense_Mutation SNP C C G TCGA-CV-5441-01A-01D-1512-08 TCGA-CV-5441-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e 79ffab90-e307-45fb-a6ce-0d9aea0b7552 g.chr12:91347314C>G ENST00000358859.2 - 1 1639 c.1206G>C c.(1204-1206)caG>caC p.Q402H CCER1_ENST00000548187.1_Intron NM_152638.2 NP_689851.1 coiled-coil glutamate-rich protein 1 AGTTAAAGTCCTGTGCCATGA 0.373000 7 111 0 0 0.248553 0 0 ZNF724P 440519 broad.mit.edu 37 19 23406046 23406046 + Missense_Mutation SNP C C T TCGA-CV-5441-01A-01D-1512-08 TCGA-CV-5441-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e 79ffab90-e307-45fb-a6ce-0d9aea0b7552 g.chr19:23406046C>T ENST00000418100.1 - 4 1118 c.1001G>A c.(1000-1002)gGt>gAt p.G334D endometrium(3)|kidney(1)|lung(2)|ovary(2) 8 AGGTTTATCACCAGTATGAAT 0.368000 4 11 0 0 0.150653 0 0 REG1A 5967 broad.mit.edu 37 2 79349245 79349245 + Silent SNP C C A rs3181912 TCGA-CV-5441-01A-01D-1512-08 TCGA-CV-5441-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e 79ffab90-e307-45fb-a6ce-0d9aea0b7552 g.chr2:79349245C>A ENST00000233735.1 + 4 418 c.315C>A c.(313-315)ccC>ccA p.P105P NM_002909.4 NP_002900.2 P05451 REG1A_HUMAN regenerating islet-derived 1 alpha 105 C-type lectin. positive regulation of cell proliferation extracellular region growth factor activity|sugar binding NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(26)|prostate(1)|upper_aerodigestive_tract(1) 39 TCCATGACCCCAAAAAGGTAG 0.488000 27 59 7.26314e-15 9.29613e-15 0.717897 1 0 OR2G6 391211 broad.mit.edu 37 1 248685532 248685532 + Missense_Mutation SNP C C A rs77917888 byFrequency TCGA-CV-5441-01A-01D-1512-08 TCGA-CV-5441-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e 79ffab90-e307-45fb-a6ce-0d9aea0b7552 g.chr1:248685532C>A ENST00000343414.4 + 1 617 c.585C>A c.(583-585)aaC>aaA p.N195K NM_001013355.1 NP_001013373.1 Q5TZ20 OR2G6_HUMAN olfactory receptor, family 2, subfamily G, member 6 195 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(40)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 61 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) all_cancers(173;0.0156) OV - Ovarian serous cystadenocarcinoma(106;0.0265) CGACTTTCAACGAGGCAGAAC 0.473000 20 54 1.5548e-18 2.10587e-18 0.693898 1 0 SEL1L2 80343 broad.mit.edu 37 20 13839934 13839934 + Missense_Mutation SNP A A G TCGA-CV-5441-01A-01D-1512-08 TCGA-CV-5441-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e 79ffab90-e307-45fb-a6ce-0d9aea0b7552 g.chr20:13839934A>G ENST00000284951.5 - 18 1866 c.1792T>C c.(1792-1794)Tat>Cat p.Y598H SEL1L2_ENST00000378072.5_Intron|SEL1L2_ENST00000486903.1_5'UTR Q5TEA6 SE1L2_HUMAN sel-1 suppressor of lin-12-like 2 (C. elegans) 598 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 CCGTGTTCATACATATAAGCC 0.403000 27 58 0 0 0.779181 0 0 ZIC1 7545 broad.mit.edu 37 3 147127954 147127954 + Missense_Mutation SNP G G A TCGA-CV-5441-01A-01D-1512-08 TCGA-CV-5441-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e 79ffab90-e307-45fb-a6ce-0d9aea0b7552 g.chr3:147127954G>A ENST00000282928.4 + 1 784 c.55G>A c.(55-57)Gcg>Acg p.A19T NM_003412.3 NP_003403.2 Q15915 ZIC1_HUMAN Zic family member 1 19 behavior|brain development|cell differentiation|inner ear morphogenesis|pattern specification process|positive regulation of protein import into nucleus|positive regulation of transcription, DNA-dependent|regulation of smoothened signaling pathway cytoplasm|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding central_nervous_system(4)|cervix(1)|endometrium(2)|large_intestine(8)|lung(38)|ovary(1)|prostate(4)|upper_aerodigestive_tract(4)|urinary_tract(1) 63 CACCTTTGGCGCGTCCCGCCA 0.741000 15 32 0 0 0.479597 0 0 NME9 347736 broad.mit.edu 37 3 138025304 138025304 + Missense_Mutation SNP C C A TCGA-CV-5441-01A-01D-1512-08 TCGA-CV-5441-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e 79ffab90-e307-45fb-a6ce-0d9aea0b7552 g.chr3:138025304C>A ENST00000383180.2 - 8 533 c.296G>T c.(295-297)tGt>tTt p.C99F NME9_ENST00000484930.1_Missense_Mutation_p.C97F|NME9_ENST00000536478.1_Missense_Mutation_p.C99F|NME9_ENST00000333911.3_Missense_Mutation_p.C160F|NME9_ENST00000341790.5_Missense_Mutation_p.C97F|NME9_ENST00000317876.4_Missense_Mutation_p.C99F NM_178130.2 NP_835231.1 Q86XW9 TXND6_HUMAN NME/NM23 family member 9 160 Thioredoxin. cell redox homeostasis|CTP biosynthetic process|GTP biosynthetic process|UTP biosynthetic process cytoplasm|cytoskeleton ATP binding|nucleoside diphosphate kinase activity GGCCAAGGTACAGGTCCTCTC 0.453000 35 69 4.00102e-26 5.96252e-26 0.819951 1 0 SSTR4 6754 broad.mit.edu 37 20 23017173 23017173 + Silent SNP C C A TCGA-CV-5441-01A-01D-1512-08 TCGA-CV-5441-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e 79ffab90-e307-45fb-a6ce-0d9aea0b7552 g.chr20:23017173C>A ENST00000255008.3 + 1 1117 c.1053C>A c.(1051-1053)ctC>ctA p.L351L RP4-753D10.3_ENST00000440921.1_RNA NM_001052.2 NP_001043.2 P31391 SSR4_HUMAN somatostatin receptor 4 351 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) CCACTGCTCTCAAGAGCAAAG 0.652000 39 59 9.45814e-24 1.39397e-23 0.804634 1 0 EFCAB5 374786 broad.mit.edu 37 17 28380818 28380818 + Missense_Mutation SNP C C A TCGA-CV-5441-01A-01D-1512-08 TCGA-CV-5441-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e 79ffab90-e307-45fb-a6ce-0d9aea0b7552 g.chr17:28380818C>A ENST00000394835.3 + 10 2038 c.1846C>A c.(1846-1848)Caa>Aaa p.Q616K EFCAB5_ENST00000378738.3_Missense_Mutation_p.Q616K|EFCAB5_ENST00000536908.2_Missense_Mutation_p.Q560K|EFCAB5_ENST00000320856.5_Missense_Mutation_p.Q616K|EFCAB5_ENST00000394832.2_Missense_Mutation_p.Q616K|EFCAB5_ENST00000541045.1_Missense_Mutation_p.Q273K NM_198529.3 NP_940931.2 A4FU69 EFCB5_HUMAN EF-hand calcium binding domain 5 616 calcium ion binding breast(7)|endometrium(2)|kidney(4)|large_intestine(11)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 43 TATTGCAGAACAAGATCGACA 0.468000 43 130 1.22674e-20 1.7455e-20 0.840704 1 0 PLXND1 23129 broad.mit.edu 37 3 129289977 129289977 + Missense_Mutation SNP C C T TCGA-CV-5441-01A-01D-1512-08 TCGA-CV-5441-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e 79ffab90-e307-45fb-a6ce-0d9aea0b7552 g.chr3:129289977C>T ENST00000393239.1 - 18 3684 c.3506G>A c.(3505-3507)cGc>cAc p.R1169H PLXND1_ENST00000324093.4_Missense_Mutation_p.R1169H Q9Y4D7 PLXD1_HUMAN plexin D1 1169 axon guidance integral to membrane|intracellular|plasma membrane p.R1169H(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 GTAGTCCAGGCGGAACCTGCT 0.632000 63 189 0 0 0.870114 0 0 SLIT3 6586 broad.mit.edu 37 5 168244400 168244400 + Missense_Mutation SNP C C A rs151091745 TCGA-CV-5441-01A-01D-1512-08 TCGA-CV-5441-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e 79ffab90-e307-45fb-a6ce-0d9aea0b7552 g.chr5:168244400C>A ENST00000519560.1 - 8 1117 c.698G>T c.(697-699)cGa>cTa p.R233L SLIT3_ENST00000332966.8_Missense_Mutation_p.R233L|SLIT3_ENST00000404867.3_Missense_Mutation_p.R233L NM_001271946.1|NM_003062.2 NP_001258875.1|NP_003053.1 O75094 SLIT3_HUMAN slit homolog 3 (Drosophila) 233 LRRCT 1. 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|Roundabout signaling pathway extracellular space|mitochondrion calcium ion binding|Roundabout 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) AACTGTCCGTCGCTGTCGCAG 0.617000 9 40 1.05317e-09 1.24381e-09 0.457914 1 0 NWD1 284434 broad.mit.edu 37 19 16861004 16861004 + Silent SNP G G A rs148902093 TCGA-CV-5441-01A-01D-1512-08 TCGA-CV-5441-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e 79ffab90-e307-45fb-a6ce-0d9aea0b7552 g.chr19:16861004G>A ENST00000524140.2 + 6 1969 c.1551G>A c.(1549-1551)ccG>ccA p.P517P NWD1_ENST00000552788.1_Silent_p.P517P|NWD1_ENST00000549814.1_Silent_p.P517P|NWD1_ENST00000523826.1_Silent_p.P311P|NWD1_ENST00000379808.3_Silent_p.P517P|NWD1_ENST00000339803.6_Silent_p.P382P NM_001007525.3 NP_001007526.3 Q149M9 NWD1_HUMAN NACHT and WD repeat domain containing 1 517 NACHT. ATP binding NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 67 CGCTGAGCCCGGTGCACACAG 0.632000 29 73 0 0 0.729181 0 0 GREB1 9687 broad.mit.edu 37 2 11727549 11727549 + Missense_Mutation SNP G G C TCGA-CV-5441-01A-01D-1512-08 TCGA-CV-5441-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e 79ffab90-e307-45fb-a6ce-0d9aea0b7552 g.chr2:11727549G>C ENST00000263834.5 + 10 1628 c.1201G>C c.(1201-1203)Gca>Cca p.A401P GREB1_ENST00000381483.2_Intron|GREB1_ENST00000381486.2_Intron|GREB1_ENST00000234142.5_Intron NM_148903.2 NP_683701.2 Q4ZG55 GREB1_HUMAN growth regulation by estrogen in breast cancer 1 0 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) ccttggtccggcagaacctgc 0.512000 24 76 0 0 0.654019 0 0 NMNAT1 64802 broad.mit.edu 37 1 10035807 10035807 + Missense_Mutation SNP G G T TCGA-CV-5441-01A-01D-1512-08 TCGA-CV-5441-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e 79ffab90-e307-45fb-a6ce-0d9aea0b7552 g.chr1:10035807G>T ENST00000377205.1 + 3 417 c.273G>T c.(271-273)gaG>gaT p.E91D NMNAT1_ENST00000403197.1_Missense_Mutation_p.E91D NM_022787.3 NP_073624.2 Q9HAN9 NMNA1_HUMAN nicotinamide nucleotide adenylyltransferase 1 91 water-soluble vitamin metabolic process nucleoplasm ATP binding|nicotinamide-nucleotide adenylyltransferase activity|nicotinate-nucleotide adenylyltransferase activity|protein binding large_intestine(2)|lung(2)|stomach(1) 5 all_lung(284;0.000407)|Renal(390;0.000469)|Lung NSC(185;0.000577)|Colorectal(325;0.0062)|Breast(348;0.00686)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.31e-08)|COAD - Colon adenocarcinoma(227;1.54e-05)|Kidney(185;0.00028)|BRCA - Breast invasive adenocarcinoma(304;0.00032)|KIRC - Kidney renal clear cell carcinoma(229;0.00101)|STAD - Stomach adenocarcinoma(132;0.00908)|READ - Rectum adenocarcinoma(331;0.0419) TTCAGAAGGAGTGGAAAGAGA 0.413000 46 103 2.72333e-11 3.29634e-11 0.870114 1 0 GALNT3 2591 broad.mit.edu 37 2 166618451 166618451 + Missense_Mutation SNP C C A TCGA-CV-5441-01A-01D-1512-08 TCGA-CV-5441-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e 79ffab90-e307-45fb-a6ce-0d9aea0b7552 g.chr2:166618451C>A ENST00000392701.3 - 4 1577 c.802G>T c.(802-804)Gca>Tca p.A268S NM_004482.3 NP_004473.2 Q14435 GALT3_HUMAN UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 3 (GalNAc-T3) 268 Catalytic subdomain A. protein O-linked glycosylation via serine|protein O-linked glycosylation via threonine Golgi cisterna membrane|integral to membrane|membrane fraction|nucleus|perinuclear region of cytoplasm calcium ion binding|manganese ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding NS(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|skin(1) 20 TCAGCTGTTGCGACTGTTGCT 0.358000 23 66 4.54149e-19 6.246e-19 0.624587 1 0 SPNS1 83985 broad.mit.edu 37 16 28995109 28995109 + Silent SNP C C T TCGA-CV-5441-01A-01D-1512-08 TCGA-CV-5441-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e 79ffab90-e307-45fb-a6ce-0d9aea0b7552 g.chr16:28995109C>T ENST00000311008.11 + 11 1700 c.1323C>T c.(1321-1323)atC>atT p.I441I SPNS1_ENST00000352260.7_Silent_p.I367I|SPNS1_ENST00000323081.8_Silent_p.I368I|RP11-264B17.3_ENST00000569969.1_RNA|SPNS1_ENST00000334536.8_Silent_p.I389I|SPNS1_ENST00000565975.1_Silent_p.I486I NM_032038.2 NP_114427.1 Q9H2V7 SPNS1_HUMAN spinster homolog 1 (Drosophila) 441 lipid transport|transmembrane transport integral to membrane|mitochondrial inner membrane protein binding cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|prostate(1)|skin(2)|urinary_tract(1) 21 CCCTGCAGATCTCTGACCGCC 0.637000 57 91 0 0 0.870114 0 0 KLHL1 57626 broad.mit.edu 37 13 70549883 70549883 + Silent SNP A A G TCGA-CV-5441-01A-01D-1512-08 TCGA-CV-5441-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e 79ffab90-e307-45fb-a6ce-0d9aea0b7552 g.chr13:70549883A>G ENST00000377844.4 - 2 1308 c.549T>C c.(547-549)agT>agC p.S183S KLHL1_ENST00000545028.1_Intron NM_020866.2 NP_065917.1 Q9NR64 KLHL1_HUMAN kelch-like family member 1 183 actin cytoskeleton organization cytoplasm|cytoskeleton actin binding breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(56)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1) 84 Breast(118;0.000162) COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211) CTTCAGAGCTACTGGAGTCCA 0.403000 45 54 0 0 0.870114 0 0 SLC39A10 57181 broad.mit.edu 37 2 196544871 196544871 + Silent SNP G G A TCGA-CV-5441-01A-01D-1512-08 TCGA-CV-5441-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e 79ffab90-e307-45fb-a6ce-0d9aea0b7552 g.chr2:196544871G>A ENST00000409086.3 + 2 380 c.105G>A c.(103-105)gcG>gcA p.A35A SLC39A10_ENST00000359634.5_Silent_p.A35A|SLC39A10_ENST00000541054.1_Intron NM_001127257.1 NP_001120729.1 Q9ULF5 S39AA_HUMAN solute carrier family 39 (zinc transporter), member 10 35 His-rich. zinc ion transport integral to membrane metal ion transmembrane transporter activity breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(16)|pancreas(1)|prostate(1)|skin(2) 34 OV - Ovarian serous cystadenocarcinoma(117;0.221) GCCCTGAAGCGCTTCACAGAC 0.368000 26 46 0 0 0.654019 0 0 FSHR 2492 broad.mit.edu 37 2 49381449 49381449 + Missense_Mutation SNP C C G TCGA-CV-5441-01A-01D-1512-08 TCGA-CV-5441-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e 79ffab90-e307-45fb-a6ce-0d9aea0b7552 g.chr2:49381449C>G ENST00000406846.2 - 1 227 c.108G>C c.(106-108)aaG>aaC p.K36N FSHR_ENST00000304421.4_Missense_Mutation_p.K36N|FSHR_ENST00000346173.3_Missense_Mutation_p.K36N NM_000145.3 NP_000136.2 P23945 FSHR_HUMAN follicle stimulating hormone receptor 36 LRRNT. female gamete generation|male gonad development|spermatogenesis integral to membrane|plasma membrane follicle-stimulating hormone receptor activity|protein binding NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|liver(1)|lung(45)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 73 all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.181) Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151) Choriogonadotropin alfa(DB00097)|Follitropin beta(DB00066)|Menotropins(DB00032)|Urofollitropin(DB00094) TCTCTGTCACCTTGCTCTCTT 0.517000 Gonadal Dysgenesis, 46 XX 26 62 0 0 0.667858 0 0 NDN 4692 broad.mit.edu 37 15 23932095 23932095 + Silent SNP C C T TCGA-CV-5441-01A-01D-1512-08 TCGA-CV-5441-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e 79ffab90-e307-45fb-a6ce-0d9aea0b7552 g.chr15:23932095C>T ENST00000331837.4 - 1 355 c.270G>A c.(268-270)ccG>ccA p.P90P NM_002487.2 NP_002478.1 Q99608 NECD_HUMAN necdin, melanoma antigen (MAGE) family member 90 negative regulation of cell proliferation|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus|perikaryon DNA binding breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(23)|ovary(1)|prostate(2)|skin(1) 39 all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14) all cancers(64;8.37e-11)|Epithelial(43;9.29e-10)|BRCA - Breast invasive adenocarcinoma(123;0.00179)|GBM - Glioblastoma multiforme(186;0.018)|Lung(196;0.153) CTGGCGGTGCCGGGCCCGGCT 0.706000 Prader-Willi syndrome 16 31 0 0 0.500413 0 0 GBP5 115362 broad.mit.edu 37 1 89726431 89726431 + Missense_Mutation SNP C C A TCGA-CV-5441-01A-01D-1512-08 TCGA-CV-5441-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e 79ffab90-e307-45fb-a6ce-0d9aea0b7552 g.chr1:89726431C>A ENST00000343435.5 - 12 2253 c.1717G>T c.(1717-1719)Gcc>Tcc p.A573S GBP5_ENST00000370459.3_Missense_Mutation_p.A573S|GBP5_ENST00000481145.1_5'UTR|RP4-620F22.2_ENST00000437128.1_RNA NM_001134486.2|NM_052942.3 NP_001127958.1|NP_443174.1 Q96PP8 GBP5_HUMAN guanylate binding protein 5 573 plasma membrane GTP binding|GTPase activity breast(1)|endometrium(1)|large_intestine(6)|lung(14)|ovary(1)|prostate(1) 24 all cancers(265;0.00784)|Epithelial(280;0.0286) GTCCTCTGGGCGTGCTGGAGC 0.403000 53 165 4.32865e-36 6.87189e-36 0.870114 1 0 HLA-F 3134 broad.mit.edu 37 6 29691698 29691698 + Missense_Mutation SNP G G A TCGA-CV-5441-01A-01D-1512-08 TCGA-CV-5441-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e 79ffab90-e307-45fb-a6ce-0d9aea0b7552 g.chr6:29691698G>A ENST00000376861.1 + 3 712 c.328G>A c.(328-330)Gag>Aag p.E110K HLA-F_ENST00000440587.2_5'UTR|HLA-F_ENST00000434407.2_Missense_Mutation_p.E110K|HLA-F_ENST00000259951.7_Missense_Mutation_p.E110K|HLA-F_ENST00000334668.4_Missense_Mutation_p.E110K P30511 HLAF_HUMAN major histocompatibility complex, class I, F 110 Alpha-1. antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|regulation of immune response|type I interferon-mediated signaling pathway integral to membrane|MHC class I protein complex MHC class I receptor activity p.E110K(2) cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1) 8 CAACCAGAGCGAGGCTGGTGA 0.677000 8 0 0 0 0.387290 0 0 FSTL5 56884 broad.mit.edu 37 4 162841675 162841675 + Missense_Mutation SNP T T C TCGA-CV-5441-01A-01D-1512-08 TCGA-CV-5441-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e 79ffab90-e307-45fb-a6ce-0d9aea0b7552 g.chr4:162841675T>C ENST00000306100.5 - 4 726 c.290A>G c.(289-291)tAc>tGc p.Y97C FSTL5_ENST00000379164.4_Missense_Mutation_p.Y96C|FSTL5_ENST00000536695.1_Missense_Mutation_p.Y96C|FSTL5_ENST00000427802.2_Missense_Mutation_p.Y96C NM_001128427.2|NM_020116.4 NP_001121899.1|NP_064501.2 Q8N475 FSTL5_HUMAN follistatin-like 5 97 Kazal-like. extracellular region calcium ion binding central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 91 all_hematologic(180;0.24) COAD - Colon adenocarcinoma(41;0.179) CACAGGTTTGTAGTGACGTTT 0.433000 49 30 0 0 0.870114 0 0 CTNNA2 1496 broad.mit.edu 37 2 80816488 80816488 + Missense_Mutation SNP A A G TCGA-CV-5441-01A-01D-1512-08 TCGA-CV-5441-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e 79ffab90-e307-45fb-a6ce-0d9aea0b7552 g.chr2:80816488A>G ENST00000466387.1 + 19 2791 c.2067A>G c.(2065-2067)atA>atG p.I689M CTNNA2_ENST00000496558.1_Missense_Mutation_p.I689M|AC008067.2_ENST00000430876.1_RNA|AC008067.2_ENST00000595478.1_RNA|CTNNA2_ENST00000402739.4_Missense_Mutation_p.I689M|CTNNA2_ENST00000343114.3_Missense_Mutation_p.I368M|CTNNA2_ENST00000361291.4_Missense_Mutation_p.I723M|CTNNA2_ENST00000540488.1_Missense_Mutation_p.I689M|CTNNA2_ENST00000541047.1_Missense_Mutation_p.I689M|AC008067.2_ENST00000596887.1_RNA P26232 CTNA2_HUMAN catenin (cadherin-associated protein), alpha 2 689 axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity actin cytoskeleton|axon|cytosol cadherin binding|structural constituent of cytoskeleton breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 78 AGGTGGAGATATTCCATCAAG 0.493000 22 52 0 0 0.608945 0 0 DCDC1 341019 broad.mit.edu 37 11 30937083 30937083 + Missense_Mutation SNP G G A TCGA-CV-5441-01A-01D-1512-08 TCGA-CV-5441-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e 79ffab90-e307-45fb-a6ce-0d9aea0b7552 g.chr11:30937083G>A ENST00000597505.1 - 25 3627 c.3628C>T c.(3628-3630)Cgc>Tgc p.R1210C DCDC1_ENST00000339794.5_Missense_Mutation_p.R289C|DCDC1_ENST00000406071.2_5'UTR P59894 DCDC1_HUMAN doublecortin domain containing 1 0 intracellular signal transduction central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|pancreas(2)|prostate(1)|skin(1)|stomach(1) 31 Lung SC(675;0.225) TGTATCCAGCGCTGATGACTA 0.473000 20 61 0 0 0.592651 0 0 MMP14 4323 broad.mit.edu 37 14 23313040 23313040 + Silent SNP C C T TCGA-CV-5441-01A-01D-1512-08 TCGA-CV-5441-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e 79ffab90-e307-45fb-a6ce-0d9aea0b7552 g.chr14:23313040C>T ENST00000311852.6 + 6 1233 c.972C>T c.(970-972)gaC>gaT p.D324D MMP14_ENST00000548162.1_3'UTR NM_004995.2 NP_004986.1 P50281 MMP14_HUMAN matrix metallopeptidase 14 (membrane-inserted) 324 Hemopexin-like 1. extracellular matrix|integral to plasma membrane|melanosome calcium ion binding|metalloendopeptidase activity|zinc ion binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(5)|prostate(1)|skin(2)|urinary_tract(1) 20 all_cancers(95;9.47e-05) GBM - Glioblastoma multiforme(265;0.00551) GGAACTTTGACACCGTGGCCA 0.557000 51 153 0 0 0.870114 0 0 SWSAP1 126074 broad.mit.edu 37 19 11486219 11486219 + Missense_Mutation SNP C C G TCGA-CV-5441-01A-01D-1512-08 TCGA-CV-5441-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e 79ffab90-e307-45fb-a6ce-0d9aea0b7552 g.chr19:11486219C>G ENST00000312423.2 + 2 276 c.217C>G c.(217-219)Cga>Gga p.R73G NM_175871.3 NP_787067.2 Q6NVH7 CS039_HUMAN SWIM-type zinc finger 7 associated protein 1 73 p.R73R(1) ACCCTCAACCCGAGAGCTTTT 0.592000 72 182 0 0 0.870114 0 0 ZAN 7455 broad.mit.edu 37 7 100377308 100377308 + RNA SNP C C A TCGA-CV-5441-01A-01D-1512-08 TCGA-CV-5441-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e 79ffab90-e307-45fb-a6ce-0d9aea0b7552 g.chr7:100377308C>A ENST00000542585.1 + 0 6703 ZAN_ENST00000538115.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000546213.1_RNA NM_003386.1 NP_003377.1 Q9Y493 ZAN_HUMAN zonadhesin (gene/pseudogene) 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) CTCTGCAAGCCTTCGGGGCCA 0.642000 3 8 0.004672 0.00487236 0.115264 1 0 EFNA5 1946 broad.mit.edu 37 5 106763036 106763036 + Missense_Mutation SNP C C A TCGA-CV-5441-01A-01D-1512-08 TCGA-CV-5441-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e 79ffab90-e307-45fb-a6ce-0d9aea0b7552 g.chr5:106763036C>A ENST00000333274.6 - 2 581 c.300G>T c.(298-300)tgG>tgT p.W100C EFNA5_ENST00000509503.1_Missense_Mutation_p.W100C NM_001962.2 NP_001953.1 P52803 EFNA5_HUMAN ephrin-A5 100 cell-cell signaling anchored to plasma membrane|caveola|extracellular space ephrin receptor binding large_intestine(6) 6 all_cancers(142;5.15e-06)|all_epithelial(76;4.39e-07)|Prostate(80;0.00726)|Lung NSC(167;0.0736)|Ovarian(225;0.0797)|all_lung(232;0.0854)|Colorectal(57;0.241) Epithelial(69;1.25e-12)|OV - Ovarian serous cystadenocarcinoma(64;1.32e-11)|BRCA - Breast invasive adenocarcinoma(61;0.0376)|COAD - Colon adenocarcinoma(37;0.109) GGTTACATTCCCATCTCTTGA 0.493000 28 81 3.73808e-20 5.26283e-20 0.693898 1 0 SLC13A1 6561 broad.mit.edu 37 7 122787213 122787213 + Splice_Site SNP G G A TCGA-CV-5441-01A-01D-1512-08 TCGA-CV-5441-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e 79ffab90-e307-45fb-a6ce-0d9aea0b7552 g.chr7:122787213G>A ENST00000194130.2 - 7 851 c.812_splice c.e7+1 p.T271_splice SLC13A1_ENST00000539873.1_3'UTR NM_022444.3 NP_071889.2 Q9BZW2 S13A1_HUMAN solute carrier family 13 (sodium/sulfate symporter), member 1 271 integral to membrane|plasma membrane sodium:sulfate symporter activity breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(20)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 45 Succinic acid(DB00139) GGTTACTTACGTATTGAAATA 0.358000 35 37 0 0 0.804634 0 0 WDHD1 11169 broad.mit.edu 37 14 55448358 55448358 + Missense_Mutation SNP C C A TCGA-CV-5441-01A-01D-1512-08 TCGA-CV-5441-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e 79ffab90-e307-45fb-a6ce-0d9aea0b7552 g.chr14:55448358C>A ENST00000360586.3 - 16 2028 c.1963G>T c.(1963-1965)Ggt>Tgt p.G655C WDHD1_ENST00000420358.2_Missense_Mutation_p.G532C|WDHD1_ENST00000421192.1_Missense_Mutation_p.G532C|WDHD1_ENST00000359167.4_Missense_Mutation_p.G173C NM_007086.3 NP_009017.1 O75717 WDHD1_HUMAN WD repeat and HMG-box DNA binding protein 1 655 cytoplasm|nucleoplasm DNA binding breast(3)|endometrium(4)|kidney(3)|large_intestine(9)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(2) 42 CACGTATTACCAAGTCCTCTG 0.413000 25 68 3.28513e-13 4.08731e-13 0.667858 1 0 DNAH6 1768 broad.mit.edu 37 2 84784995 84784995 + Missense_Mutation SNP G G A TCGA-CV-5441-01A-01D-1512-08 TCGA-CV-5441-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e 79ffab90-e307-45fb-a6ce-0d9aea0b7552 g.chr2:84784995G>A ENST00000389394.3 + 11 1876 c.1739G>A c.(1738-1740)gGg>gAg p.G580E DNAH6_ENST00000398278.2_Missense_Mutation_p.G580E|DNAH6_ENST00000237449.6_Missense_Mutation_p.G580E NM_001370.1 NP_001361.1 Q9C0G6 DYH6_HUMAN dynein, axonemal, heavy chain 6 580 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 TGTGGAACTGGGCCAAGTTTA 0.338000 41 98 0 0 0.827153 0 0 PTPN14 5784 broad.mit.edu 37 1 214557726 214557726 + Missense_Mutation SNP C C T TCGA-CV-5441-01A-01D-1512-08 TCGA-CV-5441-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e 79ffab90-e307-45fb-a6ce-0d9aea0b7552 g.chr1:214557726C>T ENST00000366956.5 - 13 1666 c.1472G>A c.(1471-1473)cGg>cAg p.R491Q PTPN14_ENST00000543945.1_3'UTR NM_005401.4 NP_005392.2 Q15678 PTN14_HUMAN protein tyrosine phosphatase, non-receptor type 14 491 lymphangiogenesis cytoplasm|cytoskeleton protein tyrosine phosphatase activity|receptor tyrosine kinase binding p.R491L(1) 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) GTGCCTCTCCCGCATCTCCGG 0.522000 54 193 0 0 0.870114 0 0 LAMA1 284217 broad.mit.edu 37 18 7037668 7037668 + Missense_Mutation SNP C C T TCGA-CV-5441-01A-01D-1512-08 TCGA-CV-5441-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e 79ffab90-e307-45fb-a6ce-0d9aea0b7552 g.chr18:7037668C>T ENST00000389658.3 - 12 1739 c.1646G>A c.(1645-1647)cGc>cAc p.R549H NM_005559.3 NP_005550.2 P25391 LAMA1_HUMAN laminin, alpha 1 549 Laminin IV type A 1. 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) GACCTGATGGCGCCCGCCTAG 0.547000 180 73 0 0 0.870114 0 0 CX3CL1 6376 broad.mit.edu 37 16 57415980 57415980 + Missense_Mutation SNP C C A TCGA-CV-5441-01A-01D-1512-08 TCGA-CV-5441-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e 79ffab90-e307-45fb-a6ce-0d9aea0b7552 g.chr16:57415980C>A ENST00000565912.1 + 2 2822 c.116C>A c.(115-117)cCg>cAg p.P39Q CX3CL1_ENST00000006053.6_Missense_Mutation_p.P77Q|CX3CL1_ENST00000564948.1_Silent_p.R37R|CX3CL1_ENST00000563383.1_Missense_Mutation_p.P83Q P78423 X3CL1_HUMAN chemokine (C-X3-C motif) ligand 1 77 Chemokine. cell adhesion|cytokine-mediated signaling pathway|defense response|immune response|leukocyte adhesive activation|positive regulation of calcium-independent cell-cell adhesion|positive regulation of inflammatory response cell surface|extracellular space|integral to membrane|plasma membrane chemokine activity breast(1)|endometrium(1)|large_intestine(1)|lung(2) 5 TGTGCCGACCCGAAGGAGCAA 0.602000 4 85 0.00909568 0.00941236 0.150653 1 0 TRPM4 54795 broad.mit.edu 37 19 49684706 49684706 + Silent SNP C C T TCGA-CV-5441-01A-01D-1512-08 TCGA-CV-5441-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e 79ffab90-e307-45fb-a6ce-0d9aea0b7552 g.chr19:49684706C>T ENST00000252826.5 + 10 1377 c.1251C>T c.(1249-1251)gaC>gaT p.D417D TRPM4_ENST00000355712.5_Intron|TRPM4_ENST00000601347.1_Intron|TRPM4_ENST00000427978.2_Silent_p.D417D NM_017636.3 NP_060106.2 Q8TD43 TRPM4_HUMAN transient receptor potential cation channel, subfamily M, member 4 417 dendritic cell chemotaxis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell proliferation|protein sumoylation|regulation of T cell cytokine production endoplasmic reticulum|Golgi apparatus|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) TTCGGGGGGACATCCAATGGC 0.562000 22 44 0 0 0.608945 0 0 ZBED4 9889 broad.mit.edu 37 22 50279075 50279075 + Missense_Mutation SNP G G T TCGA-CV-5441-01A-01D-1512-08 TCGA-CV-5441-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e 79ffab90-e307-45fb-a6ce-0d9aea0b7552 g.chr22:50279075G>T ENST00000216268.4 + 2 2242 c.1765G>T c.(1765-1767)Ggg>Tgg p.G589W NM_014838.2 NP_055653.2 O75132 ZBED4_HUMAN zinc finger, BED-type containing 4 589 cytoplasm|nucleus DNA binding|metal ion binding|protein dimerization activity breast(2)|endometrium(3)|kidney(2)|large_intestine(11)|lung(20)|ovary(2)|skin(3)|upper_aerodigestive_tract(1) 44 all_cancers(38;8.58e-10)|all_epithelial(38;1.15e-08)|all_lung(38;0.000109)|Lung NSC(38;0.0018)|Breast(42;0.00191)|Ovarian(80;0.0164)|Lung SC(80;0.164) UCEC - Uterine corpus endometrioid carcinoma (28;0.168)|BRCA - Breast invasive adenocarcinoma(115;0.2)|LUAD - Lung adenocarcinoma(64;0.247) CATCAGCCGGGGGAAGAAGCC 0.517000 38 75 2.45108e-15 3.14467e-15 0.840704 1 0 NMUR1 10316 broad.mit.edu 37 2 232390072 232390072 + Missense_Mutation SNP G G C TCGA-CV-5441-01A-01D-1512-08 TCGA-CV-5441-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e 79ffab90-e307-45fb-a6ce-0d9aea0b7552 g.chr2:232390072G>C ENST00000305141.4 - 3 1096 c.963C>G c.(961-963)agC>agG p.S321R NM_006056.4 NP_006047.3 Q9HB89 NMUR1_HUMAN neuromedin U receptor 1 321 activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|calcium ion transport|calcium-mediated signaling|chloride transport|smooth muscle contraction integral to plasma membrane|membrane fraction neuromedin U receptor activity breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(12)|pancreas(1)|skin(1) 24 Renal(207;0.025)|all_hematologic(139;0.094)|Acute lymphoblastic leukemia(138;0.164) Epithelial(121;8.37e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0142) GTGACACGACGCTCCACATGA 0.657000 28 64 0 0 0.760397 0 0 CAPZB 832 broad.mit.edu 37 1 19712005 19712005 + Missense_Mutation SNP G G T TCGA-CV-5441-01A-01D-1512-08 TCGA-CV-5441-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e 79ffab90-e307-45fb-a6ce-0d9aea0b7552 g.chr1:19712005G>T ENST00000264203.3 - 4 780 c.287C>A c.(286-288)tCc>tAc p.S96Y CAPZB_ENST00000401084.2_Missense_Mutation_p.S70Y|CAPZB_ENST00000264202.6_Missense_Mutation_p.S70Y|CAPZB_ENST00000482808.1_5'UTR|CAPZB_ENST00000375142.1_Missense_Mutation_p.S70Y|CAPZB_ENST00000433834.1_Missense_Mutation_p.S99Y|CAPZB_ENST00000375144.1_Missense_Mutation_p.S58Y P47756 CAPZB_HUMAN capping protein (actin filament) muscle Z-line, beta 70 actin cytoskeleton organization|actin filament capping|blood coagulation|cellular component movement cytosol|F-actin capping protein complex|WASH complex actin binding endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|urinary_tract(1) 7 Colorectal(325;3.93e-05)|Renal(390;0.000147)|all_lung(284;0.000169)|Lung NSC(340;0.000202)|Breast(348;0.000496)|Ovarian(437;0.00428)|Myeloproliferative disorder(586;0.0262) UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Kidney(64;8.63e-06)|BRCA - Breast invasive adenocarcinoma(304;4.06e-05)|KIRC - Kidney renal clear cell carcinoma(64;0.000175)|GBM - Glioblastoma multiforme(114;0.000525)|STAD - Stomach adenocarcinoma(196;0.00779)|READ - Rectum adenocarcinoma(331;0.103)|Lung(427;0.173) TCACCTATAGGAGTCCCCATC 0.572000 17 52 9.16793e-09 1.06859e-08 0.520397 1 0 RBM34 23029 broad.mit.edu 37 1 235295239 235295239 + Missense_Mutation SNP C C T TCGA-CV-5441-01A-01D-1512-08 TCGA-CV-5441-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e 79ffab90-e307-45fb-a6ce-0d9aea0b7552 g.chr1:235295239C>T ENST00000408888.3 - 11 1312 c.1082G>A c.(1081-1083)cGt>cAt p.R361H RBM34_ENST00000366606.3_Missense_Mutation_p.R356H|RBM34_ENST00000495224.1_5'UTR P42696 RBM34_HUMAN RNA binding motif protein 34 361 RRM 2. nucleolus nucleotide binding|RNA binding central_nervous_system(1) 1 Ovarian(103;0.0398) all_cancers(173;0.177)|Prostate(94;0.0166) OV - Ovarian serous cystadenocarcinoma(106;5.43e-05)|Epithelial(3;0.000121) ATTAACAGAACGCATGACTCT 0.313000 15 82 0 0 0.457914 0 0 OR2L13 284521 broad.mit.edu 37 1 248262808 248262808 + Missense_Mutation SNP T T C TCGA-CV-5441-01A-01D-1512-08 TCGA-CV-5441-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e 79ffab90-e307-45fb-a6ce-0d9aea0b7552 g.chr1:248262808T>C ENST00000366478.2 + 3 468 c.131T>C c.(130-132)aTg>aCg p.M44T OR2L13_ENST00000358120.2_Missense_Mutation_p.M44T NM_175911.2 NP_787107.1 Q8N349 OR2LD_HUMAN olfactory receptor, family 2, subfamily L, member 13 44 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) AACTCGGCCATGATTCACCTC 0.488000 38 146 0 0 0.788014 0 0 PCDHGC5 56097 broad.mit.edu 37 5 140868945 140868945 + Silent SNP G G C TCGA-CV-5441-01A-01D-1512-08 TCGA-CV-5441-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e 79ffab90-e307-45fb-a6ce-0d9aea0b7552 g.chr5:140868945G>C ENST00000252087.1 + 1 138 c.138G>C c.(136-138)ggG>ggC p.G46G PCDHGA9_ENST00000573521.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGC4_ENST00000306593.1_Intron|PCDHGA12_ENST00000252085.3_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGC3_ENST00000308177.3_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA7_ENST00000518325.1_Intron NM_018929.2|NM_032403.2|NM_032407.1 NP_061752.1|NP_115779.1|NP_115783.1 Q9Y5F6 PCDGM_HUMAN 46 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) CGCTGGTGGGGAATGTTGCTC 0.572000 16 65 0 0 0.479597 0 0 HECW2 57520 broad.mit.edu 37 2 197184265 197184265 + Missense_Mutation SNP C C A TCGA-CV-5441-01A-01D-1512-08 TCGA-CV-5441-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e 79ffab90-e307-45fb-a6ce-0d9aea0b7552 g.chr2:197184265C>A ENST00000260983.2 - 9 1531 c.1349G>T c.(1348-1350)aGt>aTt p.S450I HECW2_ENST00000409111.1_Missense_Mutation_p.S94I NM_020760.1 NP_065811.1 Q9P2P5 HECW2_HUMAN HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2 450 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 AGTGGGAAAACTACTCCTCAG 0.498000 24 63 2.21704e-12 2.73298e-12 0.639603 1 0 SLC15A4 121260 broad.mit.edu 37 12 129294620 129294620 + Silent SNP T T C TCGA-CV-5441-01A-01D-1512-08 TCGA-CV-5441-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e 79ffab90-e307-45fb-a6ce-0d9aea0b7552 g.chr12:129294620T>C ENST00000266771.5 - 3 918 c.879A>G c.(877-879)caA>caG p.Q293Q SLC15A4_ENST00000544112.1_5'UTR|SLC15A4_ENST00000539703.1_Intron NM_145648.3 NP_663623.1 Q8N697 S15A4_HUMAN solute carrier family 15 (oligopeptide transporter), member 4 293 oligopeptide transport|protein transport integral to membrane|lysosomal membrane peptide:hydrogen symporter activity endometrium(4)|kidney(2)|large_intestine(4)|lung(11)|skin(1) 22 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;1.69e-06)|Epithelial(86;1.17e-05)|all cancers(50;5.07e-05) CAAACAGACTTTGTTTAGAAG 0.393000 46 93 0 0 0.870114 0 0 ZAP70 7535 broad.mit.edu 37 2 98351166 98351166 + Missense_Mutation SNP G G T TCGA-CV-5441-01A-01D-1512-08 TCGA-CV-5441-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e 79ffab90-e307-45fb-a6ce-0d9aea0b7552 g.chr2:98351166G>T ENST00000264972.5 + 9 1288 c.1073G>T c.(1072-1074)cGc>cTc p.R358L ZAP70_ENST00000442208.1_Missense_Mutation_p.R232L|ZAP70_ENST00000463643.1_3'UTR|ZAP70_ENST00000451498.2_Missense_Mutation_p.R51L NM_001079.3 NP_001070.2 P43403 ZAP70_HUMAN zeta-chain (TCR) associated protein kinase 70kDa 358 Protein kinase. immune response|intracellular protein kinase cascade|positive thymic T cell selection|T cell receptor signaling pathway cytosol|T cell receptor complex ATP binding|non-membrane spanning protein tyrosine kinase activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 29 GGCGTGTACCGCATGCGCAAG 0.637000 46 44 1.21353e-23 1.78363e-23 0.870114 1 0 MKI67 4288 broad.mit.edu 37 10 129904753 129904753 + Missense_Mutation SNP G G A TCGA-CV-5441-01A-01D-1512-08 TCGA-CV-5441-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e 79ffab90-e307-45fb-a6ce-0d9aea0b7552 g.chr10:129904753G>A ENST00000368654.3 - 13 5726 c.5351C>T c.(5350-5352)aCa>aTa p.T1784I MKI67_ENST00000368653.3_Missense_Mutation_p.T1424I NM_002417.4 NP_002408.3 P46013 KI67_HUMAN marker of proliferation Ki-67 1784 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) TGGTTTGGGTGTGTGCATGGC 0.468000 86 209 0 0 0.870114 0 0 STAC 6769 broad.mit.edu 37 3 36524549 36524549 + Missense_Mutation SNP G G A TCGA-CV-5441-01A-01D-1512-08 TCGA-CV-5441-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e 79ffab90-e307-45fb-a6ce-0d9aea0b7552 g.chr3:36524549G>A ENST00000273183.3 + 3 754 c.454G>A c.(454-456)Gat>Aat p.D152N STAC_ENST00000457375.2_Intron|STAC_ENST00000476388.1_3'UTR NM_003149.1 NP_003140.1 Q99469 STAC_HUMAN SH3 and cysteine rich domain 152 intracellular signal transduction cytoplasm|soluble fraction metal ion binding endometrium(5)|large_intestine(9)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(5) 32 CAAGTGCACAGATGGCCTGGC 0.557000 22 62 0 0 0.681144 0 0 ANKHD1 54882 broad.mit.edu 37 5 139908268 139908268 + Silent SNP C C T TCGA-CV-5441-01A-01D-1512-08 TCGA-CV-5441-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e 79ffab90-e307-45fb-a6ce-0d9aea0b7552 g.chr5:139908268C>T ENST00000297183.6 + 29 5861 c.5737C>T c.(5737-5739)Cta>Tta p.L1913L ANKHD1_ENST00000544120.1_Silent_p.L296L|ANKHD1_ENST00000360839.2_Silent_p.L1913L|ANKHD1-EIF4EBP3_ENST00000532219.1_Silent_p.L1913L NM_020690.5 NP_065741.3 ankyrin repeat and KH domain containing 1 breast(2)|endometrium(8)|kidney(6)|large_intestine(14)|lung(18)|ovary(5)|prostate(2)|skin(3)|urinary_tract(2) 60 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CACAAGCCGTCTACCTAACCA 0.488000 28 48 0 0 0.729181 0 0 PGLS 25796 broad.mit.edu 37 19 17631872 17631872 + Silent SNP G G A TCGA-CV-5441-01A-01D-1512-08 TCGA-CV-5441-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e 79ffab90-e307-45fb-a6ce-0d9aea0b7552 g.chr19:17631872G>A ENST00000252603.2 + 5 803 c.759G>A c.(757-759)gaG>gaA p.E253E NM_012088.2 NP_036220.1 O95336 6PGL_HUMAN 6-phosphogluconolactonase 253 cytosol 6-phosphogluconolactonase activity endometrium(1)|lung(1) 2 TGCCCTTCGAGAAGCATTCCA 0.701000 5 11 0 0 0.278610 0 0 CEP170B 283638 broad.mit.edu 37 14 105353169 105353169 + Missense_Mutation SNP C C T TCGA-CV-5441-01A-01D-1512-08 TCGA-CV-5441-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e 79ffab90-e307-45fb-a6ce-0d9aea0b7552 g.chr14:105353169C>T ENST00000453495.1 + 12 2824 c.2596C>T c.(2596-2598)Cgg>Tgg p.R866W CEP170B_ENST00000414716.3_Missense_Mutation_p.R865W|CEP170B_ENST00000418279.1_Missense_Mutation_p.R795W|CEP170B_ENST00000556508.1_Missense_Mutation_p.R795W centrosomal protein 170B AGCCTTTCTCCGGCAAGAGAG 0.652000 4 41 0 0 0.217242 0 0 ZFHX4 79776 broad.mit.edu 37 8 77775986 77775986 + Missense_Mutation SNP C C G TCGA-CV-5441-01A-01D-1512-08 TCGA-CV-5441-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e 79ffab90-e307-45fb-a6ce-0d9aea0b7552 g.chr8:77775986C>G ENST00000521891.2 + 11 10484 c.10036C>G c.(10036-10038)Cag>Gag p.Q3346E ZFHX4_ENST00000518282.1_Missense_Mutation_p.Q3320E|ZFHX4_ENST00000050961.6_Missense_Mutation_p.Q3297E|ZFHX4_ENST00000455469.2_Missense_Mutation_p.Q3301E NM_024721.4 NP_078997.4 Q86UP3 ZFHX4_HUMAN zinc finger homeobox 4 3297 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) gAAACCAGTTCAGGCAAAGAC 0.463000 HNSCC(33;0.089) 3 3 0 0 0.115264 0 0 GPX4 2879 broad.mit.edu 37 19 1105707 1105707 + Silent SNP C C G TCGA-CV-5441-01A-01D-1512-08 TCGA-CV-5441-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e 79ffab90-e307-45fb-a6ce-0d9aea0b7552 g.chr19:1105707C>G ENST00000354171.8 + 4 482 c.375C>G c.(373-375)gtC>gtG p.V125V GPX4_ENST00000589115.1_Silent_p.V125V NM_001039847.1|NM_002085.3 NP_001034936.1|NP_002076.2 P36969 GPX4_HUMAN glutathione peroxidase 4 125 multicellular organismal development|phospholipid metabolic process glutathione peroxidase activity|phospholipid-hydroperoxide glutathione peroxidase activity endometrium(1)|kidney(2) 3 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;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) Glutathione(DB00143) GCTACAACGTCAAATTCGATA 0.587000 8 15 0 0 0.361761 0 0 EFNA5 1946 broad.mit.edu 37 5 106763037 106763037 + Missense_Mutation SNP C C A TCGA-CV-5441-01A-01D-1512-08 TCGA-CV-5441-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e 79ffab90-e307-45fb-a6ce-0d9aea0b7552 g.chr5:106763037C>A ENST00000333274.6 - 2 580 c.299G>T c.(298-300)tGg>tTg p.W100L EFNA5_ENST00000509503.1_Missense_Mutation_p.W100L NM_001962.2 NP_001953.1 P52803 EFNA5_HUMAN ephrin-A5 100 cell-cell signaling anchored to plasma membrane|caveola|extracellular space ephrin receptor binding large_intestine(6) 6 all_cancers(142;5.15e-06)|all_epithelial(76;4.39e-07)|Prostate(80;0.00726)|Lung NSC(167;0.0736)|Ovarian(225;0.0797)|all_lung(232;0.0854)|Colorectal(57;0.241) Epithelial(69;1.25e-12)|OV - Ovarian serous cystadenocarcinoma(64;1.32e-11)|BRCA - Breast invasive adenocarcinoma(61;0.0376)|COAD - Colon adenocarcinoma(37;0.109) GTTACATTCCCATCTCTTGAA 0.493000 28 80 3.73808e-20 5.26283e-20 0.693898 1 0 TMPRSS6 164656 broad.mit.edu 37 22 37462243 37462243 + Silent SNP G G A TCGA-CV-5441-01A-01D-1512-08 TCGA-CV-5441-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e 79ffab90-e307-45fb-a6ce-0d9aea0b7552 g.chr22:37462243G>A ENST00000381792.2 - 19 2492 c.2352C>T c.(2350-2352)ctC>ctT p.L784L TMPRSS6_ENST00000346753.3_Silent_p.L771L|TMPRSS6_ENST00000406725.1_Silent_p.L762L|TMPRSS6_ENST00000406856.1_Silent_p.L784L Q8IU80 TMPS6_HUMAN transmembrane protease, serine 6 771 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 AGCGGCCACTGAGTGCCTTGC 0.622000 12 28 0 0 0.575678 0 0 RALYL 138046 broad.mit.edu 37 8 85799925 85799925 + Missense_Mutation SNP C C A TCGA-CV-5441-01A-01D-1512-08 TCGA-CV-5441-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e 79ffab90-e307-45fb-a6ce-0d9aea0b7552 g.chr8:85799925C>A ENST00000521268.1 + 8 1877 c.772C>A c.(772-774)Cct>Act p.P258T RALYL_ENST00000518566.1_Missense_Mutation_p.P247T|RALYL_ENST00000517638.1_Missense_Mutation_p.P271T|RALYL_ENST00000522455.1_Missense_Mutation_p.P258T|RALYL_ENST00000521695.1_Missense_Mutation_p.P258T|RALYL_ENST00000521376.1_Intron|RALYL_ENST00000523850.1_Missense_Mutation_p.P185T NM_173848.5 NP_776247.3 Q86SE5 RALYL_HUMAN RALY RNA binding protein-like 258 identical protein binding|nucleotide binding|RNA binding p.P258S(2) endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(1) 24 TACAGAGGAGCCTGCTGAAGG 0.512000 85 79 5.14759e-42 8.3707e-42 0.870114 1 0 CELSR1 9620 broad.mit.edu 37 22 46930098 46930098 + Missense_Mutation SNP C C A TCGA-CV-5441-01A-01D-1512-08 TCGA-CV-5441-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e 79ffab90-e307-45fb-a6ce-0d9aea0b7552 g.chr22:46930098C>A ENST00000262738.3 - 1 2969 c.2970G>T c.(2968-2970)ttG>ttT p.L990F CELSR1_ENST00000395964.1_Missense_Mutation_p.L990F NM_014246.1 NP_055061.1 Q9NYQ6 CELR1_HUMAN cadherin, EGF LAG seven-pass G-type receptor 1 990 Cadherin 7. central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway integral to plasma membrane calcium ion binding|G-protein coupled receptor activity|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) CATTAATGTCCAAGATGGTCA 0.547000 47 90 8.04919e-23 1.17019e-22 0.870114 1 0 DNAH5 1767 broad.mit.edu 37 5 13865914 13865914 + Missense_Mutation SNP C C A TCGA-CV-5441-01A-01D-1512-08 TCGA-CV-5441-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e 79ffab90-e307-45fb-a6ce-0d9aea0b7552 g.chr5:13865914C>A ENST00000265104.4 - 27 4322 c.4218G>T c.(4216-4218)aaG>aaT p.K1406N CTB-51A17.1_ENST00000503244.1_RNA NM_001369.2 NP_001360.1 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 1406 Stem (By similarity). microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity p.K1406N(1) 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) TTAGTTGCTTCTTTATTTCAA 0.343000 Kartagener syndrome 40 75 1.96642e-18 2.64996e-18 0.827153 1 0 EPB41L1 2036 broad.mit.edu 37 20 34778267 34778267 + Missense_Mutation SNP G G T TCGA-CV-5441-01A-01D-1512-08 TCGA-CV-5441-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e 79ffab90-e307-45fb-a6ce-0d9aea0b7552 g.chr20:34778267G>T ENST00000338074.2 + 10 1256 c.1095G>T c.(1093-1095)aaG>aaT p.K365N EPB41L1_ENST00000441639.1_Missense_Mutation_p.K303N|EPB41L1_ENST00000373941.1_Missense_Mutation_p.K365N|EPB41L1_ENST00000373946.3_Missense_Mutation_p.K334N|EPB41L1_ENST00000373950.2_Missense_Mutation_p.K268N|EPB41L1_ENST00000202028.5_Missense_Mutation_p.K303N NM_001258329.1|NM_012156.2 NP_001245258.1|NP_036288.2 Q9H4G0 E41L1_HUMAN erythrocyte membrane protein band 4.1-like 1 365 FERM. cortical actin cytoskeleton organization|synaptic transmission cytoskeleton|cytosol|extrinsic to membrane|plasma membrane actin binding|structural molecule activity breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(10)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 37 Breast(12;0.0239) GACTGTGGAAGGTCTGCATCG 0.542000 9 28 0.000442599 0.000467966 0.335167 1 0 COL24A1 255631 broad.mit.edu 37 1 86591713 86591713 + Missense_Mutation SNP C C A TCGA-CV-5441-01A-01D-1512-08 TCGA-CV-5441-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e 79ffab90-e307-45fb-a6ce-0d9aea0b7552 g.chr1:86591713C>A ENST00000370571.2 - 3 672 c.306G>T c.(304-306)ttG>ttT p.L102F COL24A1_ENST00000436319.1_Missense_Mutation_p.L102F NM_152890.5 NP_690850.2 Q17RW2 COOA1_HUMAN collagen, type XXIV, alpha 1 102 TSP N-terminal. 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) ACGGCTGCCCCAAGTTGACTG 0.388000 39 76 2.2871e-25 3.38946e-25 0.834066 1 0 DOCK7 85440 broad.mit.edu 37 1 62954718 62954718 + Missense_Mutation SNP C C A TCGA-CV-5441-01A-01D-1512-08 TCGA-CV-5441-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e 79ffab90-e307-45fb-a6ce-0d9aea0b7552 g.chr1:62954718C>A ENST00000251157.5 - 42 5386 c.5353G>T c.(5353-5355)Gtt>Ttt p.V1785F DOCK7_ENST00000340370.5_Missense_Mutation_p.V1763F NM_001271999.1 NP_001258928.1 Q96N67 DOCK7_HUMAN dedicator of cytokinesis 7 1794 DHR-2. 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|guanyl-nucleotide exchange factor activity|Rac GTPase binding 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 ACTTCATTAACTGCTTCATAC 0.299000 16 47 4.14922e-12 5.10306e-12 0.500413 1 0 DPPA4 55211 broad.mit.edu 37 3 109049520 109049520 + Missense_Mutation SNP G G T TCGA-CV-5441-01A-01D-1512-08 TCGA-CV-5441-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e 79ffab90-e307-45fb-a6ce-0d9aea0b7552 g.chr3:109049520G>T ENST00000335658.6 - 5 584 c.530C>A c.(529-531)cCt>cAt p.P177H DPPA4_ENST00000478791.1_5'UTR NM_018189.3 NP_060659.3 Q7L190 DPPA4_HUMAN developmental pluripotency associated 4 177 nucleus protein binding central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(17)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 25 TTCCAGGGCAGGCGGCTCCCC 0.512000 43 105 8.20599e-20 1.14328e-19 0.859065 1 0 MTHFD1 4522 broad.mit.edu 37 14 64891613 64891613 + Silent SNP C C T TCGA-CV-5441-01A-01D-1512-08 TCGA-CV-5441-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e 79ffab90-e307-45fb-a6ce-0d9aea0b7552 g.chr14:64891613C>T ENST00000555709.1 + 9 1206 c.819C>T c.(817-819)ggC>ggT p.G273G MTHFD1_ENST00000545908.1_Silent_p.G329G|MTHFD1_ENST00000216605.7_Silent_p.G329G|MTHFD1_ENST00000555252.1_Silent_p.G253G|CTD-2555O16.2_ENST00000556640.1_RNA NM_005956.3 NP_005947.3 P11586 C1TC_HUMAN methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1, methenyltetrahydrofolate cyclohydrolase, formyltetrahydrofolate synthetase 273 Methylenetetrahydrofolate dehydrogenase and cyclohydrolase.|Substrate binding. 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) CTGTTCCTGGCGGCGTAGGGC 0.458000 20 56 0 0 0.592651 0 0 UNC79 57578 broad.mit.edu 37 14 94100936 94100936 + Missense_Mutation SNP T T A TCGA-CV-5441-01A-01D-1512-08 TCGA-CV-5441-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e 79ffab90-e307-45fb-a6ce-0d9aea0b7552 g.chr14:94100936T>A ENST00000553484.1 + 33 6006 c.5852T>A c.(5851-5853)cTg>cAg p.L1951Q UNC79_ENST00000555664.1_Intron|UNC79_ENST00000393151.2_Missense_Mutation_p.L1929Q|UNC79_ENST00000256339.4_Missense_Mutation_p.L1752Q Q9P2D8 UNC79_HUMAN unc-79 homolog (C. elegans) 1929 integral to membrane 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 AAGCGGCAGCTGGAGCATCAG 0.468000 33 82 0 0 0.812448 0 0 SPRED1 161742 broad.mit.edu 37 15 38591587 38591587 + Nonsense_Mutation SNP C C T TCGA-CV-5441-01A-01D-1512-08 TCGA-CV-5441-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e 79ffab90-e307-45fb-a6ce-0d9aea0b7552 g.chr15:38591587C>T ENST00000299084.4 + 2 906 c.46C>T c.(46-48)Cga>Tga p.R16* SPRED1_ENST00000561205.1_3'UTR NM_152594.2 NP_689807.1 Q7Z699 SPRE1_HUMAN sprouty-related, EVH1 domain containing 1 16 WH1. inactivation of MAPK activity|multicellular organismal development caveola|nucleus stem cell factor receptor binding kidney(6)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 all_cancers(109;4.88e-13)|all_epithelial(112;1.83e-11)|Lung NSC(122;2.21e-09)|all_lung(180;4.64e-08)|Melanoma(134;0.091) GBM - Glioblastoma multiforme(113;2.41e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0244) TAGTTATGCACGAGTGCGAGC 0.438000 Legius syndrome 30 62 0 0 0.740014 0 0 ZNF676 163223 broad.mit.edu 37 19 22363538 22363538 + Missense_Mutation SNP G G T TCGA-CV-5441-01A-01D-1512-08 TCGA-CV-5441-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e 79ffab90-e307-45fb-a6ce-0d9aea0b7552 g.chr19:22363538G>T ENST00000397121.2 - 3 1298 c.981C>A c.(979-981)caC>caA p.H327Q NM_001001411.2 NP_001001411.2 Q8N7Q3 ZN676_HUMAN zinc finger protein 676 327 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(49)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2) 67 Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114) GAATTCTCTTGTGTTCAGTAA 0.403000 6 164 2.70639e-06 3.06114e-06 0.624587 1 0 CHEK2P2 646096 broad.mit.edu 37 15 20488829 20488829 + RNA SNP T T C TCGA-CV-5441-01A-01D-1512-08 TCGA-CV-5441-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e 79ffab90-e307-45fb-a6ce-0d9aea0b7552 g.chr15:20488829T>C ENST00000555186.1 + 0 312 NR_038836.1 CCTGCTTGGCTCCTGAAGTTC 0.418000 19 134 0 0 0.592651 0 0 POLD1 5424 broad.mit.edu 37 19 50919882 50919882 + Missense_Mutation SNP G G A TCGA-CV-5441-01A-01D-1512-08 TCGA-CV-5441-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e 79ffab90-e307-45fb-a6ce-0d9aea0b7552 g.chr19:50919882G>A ENST00000440232.2 + 24 3022 c.2969G>A c.(2968-2970)cGc>cAc p.R990H POLD1_ENST00000595904.1_Missense_Mutation_p.R1016H|POLD1_ENST00000599857.1_Missense_Mutation_p.R990H NM_001256849.1|NM_002691.3 NP_001243778.1|NP_002682.2 P28340 DPOD1_HUMAN polymerase (DNA directed), delta 1, catalytic subunit 990 base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|DNA synthesis involved in DNA repair|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|response to UV|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair delta DNA polymerase complex|nucleoplasm|nucleotide-excision repair complex 3'-5'-exodeoxyribonuclease activity|chromatin binding|DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding|protein binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(6)|lung(8)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 39 all_neural(266;0.0571) OV - Ovarian serous cystadenocarcinoma(262;0.00794)|GBM - Glioblastoma multiforme(134;0.0195) GACCACACGCGCTGCAAGACG 0.706000 DNA polymerases (catalytic subunits) 3 7 0 0 0.150653 0 0 MT-CO2 4513 broad.mit.edu 37 MT 7976 7976 + Missense_Mutation SNP G G A TCGA-CV-5441-01A-01D-1512-08 TCGA-CV-5441-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e 79ffab90-e307-45fb-a6ce-0d9aea0b7552 g.chrM:7976G>A ENST00000361739.1 + 1 391 c.391G>A c.(391-393)Ggc>Agc p.G131S mitochondrially encoded cytochrome c oxidase II endometrium(5)|kidney(8)|lung(2)|pancreas(3)|prostate(1) 19 TCCTAGAACCAGGCGACCTGC 0.468000 59 9 0 0 0.870114 0 0 FOXN4 121643 broad.mit.edu 37 12 109723196 109723196 + Missense_Mutation SNP G G T TCGA-CV-5441-01A-01D-1512-08 TCGA-CV-5441-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e 79ffab90-e307-45fb-a6ce-0d9aea0b7552 g.chr12:109723196G>T ENST00000299162.5 - 8 918 c.814C>A c.(814-816)Ctg>Atg p.L272M FOXN4_ENST00000355216.1_Missense_Mutation_p.L92M NM_213596.2 NP_998761.2 Q96NZ1 FOXN4_HUMAN forkhead box N4 272 axon extension|embryo development|organ development|pattern specification process|regulation of heart contraction|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 large_intestine(5)|lung(9)|ovary(2) 16 ATGCGGGCCAGGTTCAGAGCC 0.607000 16 31 0.00074312 0.000781079 0.539581 1 0 ABCA9 10350 broad.mit.edu 37 17 67025355 67025355 + Missense_Mutation SNP T T C TCGA-CV-5441-01A-01D-1512-08 TCGA-CV-5441-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e 79ffab90-e307-45fb-a6ce-0d9aea0b7552 g.chr17:67025355T>C ENST00000340001.4 - 11 1670 c.1459A>G c.(1459-1461)Aaa>Gaa p.K487E ABCA9_ENST00000370732.2_Missense_Mutation_p.K487E|ABCA9_ENST00000453985.2_Missense_Mutation_p.K487E NM_080283.3 NP_525022.2 Q8IUA7 ABCA9_HUMAN ATP-binding cassette, sub-family A (ABC1), member 9 487 ABC transporter 1. transport integral to membrane ATP binding|ATPase activity NS(2)|breast(4)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(21)|lung(35)|ovary(4)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 91 Breast(10;1.47e-12) TATTCTTTTTTAAGATTTTTG 0.328000 23 36 0 0 0.693898 0 0 MST1L 11223 broad.mit.edu 37 1 17084550 17084550 + RNA SNP C C A TCGA-CV-5441-01A-01D-1512-08 TCGA-CV-5441-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e 79ffab90-e307-45fb-a6ce-0d9aea0b7552 g.chr1:17084550C>A ENST00000455405.2 - 0 339 ACAGGGTGCCCAACCATACCT 0.582000 11 92 1.05317e-09 1.24381e-09 0.457914 1 0 DNAH8 1769 broad.mit.edu 37 6 38877379 38877379 + Missense_Mutation SNP G G T TCGA-CV-5441-01A-01D-1512-08 TCGA-CV-5441-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e 79ffab90-e307-45fb-a6ce-0d9aea0b7552 g.chr6:38877379G>T ENST00000359357.3 + 63 9202 c.8948G>T c.(8947-8949)aGg>aTg p.R2983M DNAH8_ENST00000449981.2_Missense_Mutation_p.R3200M|DNAH8_ENST00000441566.1_Missense_Mutation_p.R2947M dynein, axonemal, heavy chain 8 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 CGCTGGCCAAGGGAGGCTCTG 0.448000 63 49 3.82636e-28 5.73418e-28 0.870114 1 0 VWC2L 402117 broad.mit.edu 37 2 215279018 215279018 + Missense_Mutation SNP G G A TCGA-CV-5441-01A-01D-1512-08 TCGA-CV-5441-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e 79ffab90-e307-45fb-a6ce-0d9aea0b7552 g.chr2:215279018G>A ENST00000312504.5 + 2 903 c.101G>A c.(100-102)gGt>gAt p.G34D AC107218.3_ENST00000412896.1_RNA|AC107218.3_ENST00000437883.1_RNA|VWC2L_ENST00000427124.1_Missense_Mutation_p.G34D NM_001080500.2 NP_001073969.1 B2RUY7 VWC2L_HUMAN von Willebrand factor C domain containing protein 2-like 34 extracellular region breast(1)|endometrium(1)|large_intestine(3)|lung(10)|prostate(1) 16 GCTGATGAAGGTGACCAGATC 0.448000 28 55 0 0 0.740014 0 0 S1PR3 1903 broad.mit.edu 37 9 91616672 91616672 + Missense_Mutation SNP C C T TCGA-CV-5441-01A-01D-1512-08 TCGA-CV-5441-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e 79ffab90-e307-45fb-a6ce-0d9aea0b7552 g.chr9:91616672C>T ENST00000375846.3 + 1 5252 c.557C>T c.(556-558)tCt>tTt p.S186F S1PR3_ENST00000358157.2_Missense_Mutation_p.S186F Q99500 S1PR3_HUMAN sphingosine-1-phosphate receptor 3 186 anatomical structure morphogenesis|elevation of cytosolic calcium ion concentration|inflammatory response|positive regulation of cell proliferation integral to plasma membrane lipid binding|lysosphingolipid and lysophosphatidic acid receptor activity NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|pancreas(1)|prostate(3)|skin(1) 34 CCTGACTGCTCTACCATCCTG 0.577000 OREG0019291 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 24 67 0 0 0.681144 0 0 TRIM58 25893 broad.mit.edu 37 1 248039216 248039216 + Missense_Mutation SNP G G T TCGA-CV-5441-01A-01D-1512-08 TCGA-CV-5441-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e 79ffab90-e307-45fb-a6ce-0d9aea0b7552 g.chr1:248039216G>T ENST00000366481.3 + 6 934 c.886G>T c.(886-888)Gat>Tat p.D296Y OR2W3_ENST00000537741.1_5'UTR NM_015431.3 NP_056246.3 Q8NG06 TRI58_HUMAN tripartite motif containing 58 296 B30.2/SPRY. 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) TGTAAAGCTGGATCCCGCCAC 0.542000 9 61 1.12685e-05 1.24559e-05 0.307466 1 0 ZNF280A 129025 broad.mit.edu 37 22 22869368 22869368 + Missense_Mutation SNP A A C TCGA-CV-5441-01A-01D-1512-08 TCGA-CV-5441-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e 79ffab90-e307-45fb-a6ce-0d9aea0b7552 g.chr22:22869368A>C ENST00000302097.3 - 2 839 c.587T>G c.(586-588)gTc>gGc p.V196G NM_080740.3 NP_542778.1 P59817 Z280A_HUMAN zinc finger protein 280A 196 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) ATCTGAAGGGACCACAGCTAA 0.438000 18 182 0 0 0.520397 0 0 PCLO 27445 broad.mit.edu 37 7 82457236 82457236 + Missense_Mutation SNP G G T TCGA-CV-5441-01A-01D-1512-08 TCGA-CV-5441-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e 79ffab90-e307-45fb-a6ce-0d9aea0b7552 g.chr7:82457236G>T ENST00000423517.2 - 17 14633 c.14296C>A c.(14296-14298)Cct>Act p.P4766T PCLO_ENST00000333891.8_Missense_Mutation_p.P4766T|PCLO_ENST00000426442.2_5'UTR NM_014510.2 NP_055325.2 Q9Y6V0 PCLO_HUMAN piccolo presynaptic cytomatrix protein 4628 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 TTCCACTCAGGATTAAGACTT 0.333000 6 22 0.248553 0.251372 0.248553 1 0 DOCK8 81704 broad.mit.edu 37 9 312083 312083 + Missense_Mutation SNP G G A TCGA-CV-5441-01A-01D-1512-08 TCGA-CV-5441-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e 79ffab90-e307-45fb-a6ce-0d9aea0b7552 g.chr9:312083G>A ENST00000432829.2 + 6 770 c.454G>A c.(454-456)Gag>Aag p.E152K DOCK8_ENST00000469391.1_Missense_Mutation_p.E152K|DOCK8_ENST00000453981.1_Missense_Mutation_p.E220K NM_203447.3 NP_982272.2 Q8NF50 DOCK8_HUMAN dedicator of cytokinesis 8 220 blood coagulation cytosol GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity breast(1)|central_nervous_system(5)|endometrium(2)|kidney(6)|large_intestine(13)|lung(22)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6) 65 all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128) all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942) AGTGAGTGCCGAGGACTTTGA 0.597000 56 95 0 0 0.870114 0 0 DAB2 1601 broad.mit.edu 37 5 39381569 39381569 + Silent SNP G G T TCGA-CV-5441-01A-01D-1512-08 TCGA-CV-5441-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e 79ffab90-e307-45fb-a6ce-0d9aea0b7552 g.chr5:39381569G>T ENST00000545653.1 - 10 1958 c.1428C>A c.(1426-1428)ccC>ccA p.P476P DAB2_ENST00000320816.6_Silent_p.P497P|DAB2_ENST00000339788.6_Silent_p.P279P|DAB2_ENST00000509337.1_Silent_p.P476P NM_001244871.1 NP_001231800.1 P98082 DAB2_HUMAN Dab, mitogen-responsive phosphoprotein, homolog 2 (Drosophila) 497 cell proliferation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of protein binding|negative regulation of transcription, DNA-dependent|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of transcription, DNA-dependent|positive regulation of Wnt receptor signaling pathway, planar cell polarity pathway clathrin coated vesicle membrane|coated pit protein C-terminus binding autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(5)|large_intestine(9)|lung(19)|prostate(2)|skin(4)|upper_aerodigestive_tract(2) 47 all_lung(31;0.000197) Epithelial(62;0.137) GACCCACCAGGGGCCCCACTG 0.507000 57 174 3.40165e-17 4.50467e-17 0.870114 1 0 GIGYF1 64599 broad.mit.edu 37 7 100280797 100280797 + Silent SNP C C G TCGA-CV-5441-01A-01D-1512-08 TCGA-CV-5441-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e 79ffab90-e307-45fb-a6ce-0d9aea0b7552 g.chr7:100280797C>G ENST00000275732.5 - 19 3459 c.2250G>C c.(2248-2250)gtG>gtC p.V750V NM_022574.4 NP_072096.2 O75420 PERQ1_HUMAN GRB10 interacting GYF protein 1 750 central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 23 Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817) GTGCGGGGGGCACAGGGACCG 0.677000 8 18 0 0 0.361761 0 0 RELN 5649 broad.mit.edu 37 7 103290782 103290782 + Missense_Mutation SNP G G T TCGA-CV-5441-01A-01D-1512-08 TCGA-CV-5441-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e 79ffab90-e307-45fb-a6ce-0d9aea0b7552 g.chr7:103290782G>T ENST00000428762.1 - 16 2100 c.1941C>A c.(1939-1941)aaC>aaA p.N647K RELN_ENST00000343529.5_Missense_Mutation_p.N647K|RELN_ENST00000424685.2_Missense_Mutation_p.N647K NM_005045.3 NP_005036.2 P78509 RELN_HUMAN reelin 647 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) GAATCCTGGTGTTCCGGGTTA 0.423000 23 80 3.28513e-13 4.08731e-13 0.667858 1 0 FILIP1 27145 broad.mit.edu 37 6 76124636 76124636 + Missense_Mutation SNP C C A TCGA-CV-5441-01A-01D-1512-08 TCGA-CV-5441-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e 79ffab90-e307-45fb-a6ce-0d9aea0b7552 g.chr6:76124636C>A ENST00000393004.2 - 2 274 c.53G>T c.(52-54)tGt>tTt p.C18F FILIP1_ENST00000237172.7_Missense_Mutation_p.C18F Q7Z7B0 FLIP1_HUMAN filamin A interacting protein 1 18 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 GGGCTTGGGACAGGAGATATG 0.423000 62 78 1.08141e-31 1.65301e-31 0.870114 1 0 TAS2R43 259289 broad.mit.edu 37 12 11244286 11244286 + Missense_Mutation SNP C C T TCGA-CV-5441-01A-01D-1512-08 TCGA-CV-5441-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e 79ffab90-e307-45fb-a6ce-0d9aea0b7552 g.chr12:11244286C>T ENST00000531678.1 - 1 626 c.543G>A c.(541-543)atG>atA p.M181I TAS2R14_ENST00000381852.4_Intron|PRR4_ENST00000536668.1_Intron NM_176884.2 NP_795365.2 P59537 T2R43_HUMAN taste receptor, type 2, member 43 181 detection of chemical stimulus involved in sensory perception of bitter taste cilium membrane|motile cilium bitter taste receptor activity endometrium(1)|ovary(1)|prostate(2)|urinary_tract(1) 5 OV - Ovarian serous cystadenocarcinoma(49;0.0344) BRCA - Breast invasive adenocarcinoma(232;0.196) AGTTTGCTACCATGGTTACAG 0.368000 59 50 0 0 0.870114 0 0 SSPO 23145 broad.mit.edu 37 7 149473575 149473575 + RNA SNP G G A TCGA-CV-5441-01A-01D-1512-08 TCGA-CV-5441-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e 79ffab90-e307-45fb-a6ce-0d9aea0b7552 g.chr7:149473575G>A ENST00000378016.2 + 0 191 A2VEC9 SSPO_HUMAN SCO-spondin cell adhesion extracellular space peptidase inhibitor activity Melanoma(164;0.165)|Ovarian(565;0.177) OV - Ovarian serous cystadenocarcinoma(82;0.00625) GGCCGCTCGGGGCTTACCCGG 0.662000 4 6 0 0 0.217242 0 0 SLC39A4 55630 broad.mit.edu 37 8 145642057 145642057 + Silent SNP C C A TCGA-CV-5441-01A-01D-1512-08 TCGA-CV-5441-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e 79ffab90-e307-45fb-a6ce-0d9aea0b7552 g.chr8:145642057C>A ENST00000301305.3 - 1 222 c.117G>T c.(115-117)ctG>ctT p.L39L NM_130849.2 NP_570901.2 Q6P5W5 S39A4_HUMAN solute carrier family 39 (zinc transporter), member 4 39 cytoplasmic membrane-bounded vesicle|integral to membrane|recycling endosome membrane zinc ion transmembrane transporter activity endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 14 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;1.08e-41)|Epithelial(56;1.12e-40)|all cancers(56;8.17e-36)|BRCA - Breast invasive adenocarcinoma(115;0.0407)|Colorectal(110;0.055) CCTCTTGATCCAGAGCGCCCT 0.682000 15 11 2.31682e-05 2.53996e-05 0.479597 1 0 RIMS2 9699 broad.mit.edu 37 8 105105870 105105870 + Splice_Site SNP A A T TCGA-CV-5441-01A-01D-1512-08 TCGA-CV-5441-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e 79ffab90-e307-45fb-a6ce-0d9aea0b7552 g.chr8:105105870A>T ENST00000436393.2 + 21 3134 c.2894_splice c.e21+1 p.R965_splice RIMS2_ENST00000507740.1_Intron|RIMS2_ENST00000406091.3_Intron|RIMS2_ENST00000262231.10_Intron Q9UQ26 RIMS2_HUMAN regulating synaptic membrane exocytosis 2 410 intracellular protein transport cell junction|presynaptic membrane metal ion binding|Rab GTPase binding NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1) 144 OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229) CAAGAAAATCAGGTAAGGGGA 0.368000 HNSCC(12;0.0054) 50 28 0 0 0.870114 0 0 CHD3 1107 broad.mit.edu 37 17 7806008 7806008 + Silent SNP G G A TCGA-CV-5441-01A-01D-1512-08 TCGA-CV-5441-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e 79ffab90-e307-45fb-a6ce-0d9aea0b7552 g.chr17:7806008G>A ENST00000380358.4 + 21 3511 c.3510G>A c.(3508-3510)acG>acA p.T1170T CHD3_ENST00000358181.4_Silent_p.T1111T|CHD3_ENST00000330494.7_Silent_p.T1111T NM_001005271.2 NP_001005271.2 Q12873 CHD3_HUMAN chromodomain helicase DNA binding protein 3 1111 Helicase C-terminal. chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent microtubule organizing center|NuRD complex 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) GTGGTATCACGGGTGCCCTGA 0.507000 96 49 0 0 0.870114 0 0 PTPN14 5784 broad.mit.edu 37 1 214542973 214542973 + Missense_Mutation SNP G G C TCGA-CV-5441-01A-01D-1512-08 TCGA-CV-5441-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e 79ffab90-e307-45fb-a6ce-0d9aea0b7552 g.chr1:214542973G>C ENST00000366956.5 - 17 3292 c.3098C>G c.(3097-3099)gCc>gGc p.A1033G PTPN14_ENST00000543945.1_3'UTR NM_005401.4 NP_005392.2 Q15678 PTN14_HUMAN protein tyrosine phosphatase, non-receptor type 14 1033 Tyrosine-protein phosphatase. 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) GCCATAGGTGGCTGAGCTGTG 0.468000 61 240 0 0 0.870114 0 0 GRIA4 2893 broad.mit.edu 37 11 105623920 105623920 + Missense_Mutation SNP T T C TCGA-CV-5441-01A-01D-1512-08 TCGA-CV-5441-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e 79ffab90-e307-45fb-a6ce-0d9aea0b7552 g.chr11:105623920T>C ENST00000393127.2 + 4 907 c.461T>C c.(460-462)tTt>tCt p.F154S GRIA4_ENST00000393125.2_Missense_Mutation_p.F154S|GRIA4_ENST00000530497.1_Missense_Mutation_p.F154S|GRIA4_ENST00000525187.1_Missense_Mutation_p.F154S|GRIA4_ENST00000282499.5_Missense_Mutation_p.F154S|GRIA4_ENST00000428631.2_Missense_Mutation_p.F154S NM_001077243.2 NP_001070711.2 P48058 GRIA4_HUMAN glutamate receptor, ionotropic, AMPA 4 154 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) TGGAACTGTTTTGTCTTCCTG 0.433000 46 58 0 0 0.870114 0 0 TTN 7273 broad.mit.edu 37 2 179462734 179462734 + Nonsense_Mutation SNP C C A TCGA-CV-5441-01A-01D-1512-08 TCGA-CV-5441-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e 79ffab90-e307-45fb-a6ce-0d9aea0b7552 g.chr2:179462734C>A ENST00000589042.1 - 293 57387 c.57163G>T c.(57163-57165)Gaa>Taa p.E19055* TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000591111.1_Nonsense_Mutation_p.E17414*|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342992.6_Nonsense_Mutation_p.E16487*|TTN_ENST00000342175.6_Nonsense_Mutation_p.E10182*|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Nonsense_Mutation_p.E9990*|TTN_ENST00000359218.5_Nonsense_Mutation_p.E10115* NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 17414 Fibronectin type-III 38. 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) AATGCTCCTTCCTTTAATCCT 0.388000 66 187 1.98135e-44 3.25161e-44 0.870114 1 0 COL6A2 1292 broad.mit.edu 37 21 47537349 47537349 + Silent SNP G G A TCGA-CV-5441-01A-01D-1512-08 TCGA-CV-5441-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e 79ffab90-e307-45fb-a6ce-0d9aea0b7552 g.chr21:47537349G>A ENST00000300527.4 + 11 1139 c.1035G>A c.(1033-1035)aaG>aaA p.K345K COL6A2_ENST00000397763.1_Silent_p.K345K|COL6A2_ENST00000409416.1_Silent_p.K345K|COL6A2_ENST00000310645.5_Silent_p.K345K|COL6A2_ENST00000357838.4_Silent_p.K345K NM_001849.3 NP_001840.3 P12110 CO6A2_HUMAN collagen, type VI, alpha 2 345 Triple-helical region. axon guidance|cell-cell adhesion|extracellular matrix organization|protein heterotrimerization collagen|extracellular space|protein complex extracellular matrix structural constituent|protein binding, bridging NS(1)|breast(1)|central_nervous_system(7)|endometrium(7)|kidney(5)|liver(1)|lung(15)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1) 43 Breast(49;0.245) Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649) CTGGCTGCAAGGGAGACCCTG 0.672000 15 44 0 0 0.520397 0 0 ARRDC5 645432 broad.mit.edu 37 19 4891219 4891219 + Missense_Mutation SNP G G C TCGA-CV-5441-01A-01D-1512-08 TCGA-CV-5441-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e 79ffab90-e307-45fb-a6ce-0d9aea0b7552 g.chr19:4891219G>C ENST00000381781.2 - 3 867 c.868C>G c.(868-870)Cac>Gac p.H290D NM_001080523.1 NP_001073992.1 A6NEK1 ARRD5_HUMAN arrestin domain containing 5 290 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) TAGCGAGTGTGCATGATCTCA 0.612000 68 159 0 0 0.870114 0 0 KNDC1 85442 broad.mit.edu 37 10 135011840 135011840 + Splice_Site SNP G G T TCGA-CV-5441-01A-01D-1512-08 TCGA-CV-5441-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e 79ffab90-e307-45fb-a6ce-0d9aea0b7552 g.chr10:135011840G>T ENST00000304613.3 + 13 1927 c.e13-1 KNDC1_ENST00000368571.2_Splice_Site|KNDC1_ENST00000368572.2_Splice_Site Q76NI1 VKIND_HUMAN kinase non-catalytic C-lobe domain (KIND) containing 1 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction NS(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(27)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 60 all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203) OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05) TGGCTCCCCAGGCTTCCTGCC 0.721000 5 9 8.12818e-05 8.80279e-05 0.248553 1 0 KMT2D 8085 broad.mit.edu 37 12 49420595 49420595 + Silent SNP G G A TCGA-CV-5441-01A-01D-1512-08 TCGA-CV-5441-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e 79ffab90-e307-45fb-a6ce-0d9aea0b7552 g.chr12:49420595G>A ENST00000301067.7 - 48 15153 c.15154C>T c.(15154-15156)Ctg>Ttg p.L5052L NM_003482.3 NP_003473.3 lysine (K)-specific methyltransferase 2D TCCAGGTCCAGGTTCAGCAGA 0.617000 32 82 0 0 0.796494 0 0 PIK3CG 5294 broad.mit.edu 37 7 106507993 106507993 + Splice_Site SNP A A T TCGA-CV-5441-01A-01D-1512-08 TCGA-CV-5441-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e 79ffab90-e307-45fb-a6ce-0d9aea0b7552 g.chr7:106507993A>T ENST00000359195.3 + 2 298 c.e2-1 PIK3CG_ENST00000496166.1_Splice_Site|PIK3CG_ENST00000440650.2_Splice_Site NM_002649.2 NP_002640.2 P48736 PK3CG_HUMAN phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation phosphatidylinositol 3-kinase complex 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 132 CTCCGCTCCCAGGTCGCATAG 0.567000 37 101 0 0 0.796494 0 0 ELFN2 114794 broad.mit.edu 37 22 37769436 37769436 + Silent SNP G G A TCGA-CV-5441-01A-01D-1512-08 TCGA-CV-5441-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e 79ffab90-e307-45fb-a6ce-0d9aea0b7552 g.chr22:37769436G>A ENST00000402918.1 - 3 2924 c.2139C>T c.(2137-2139)ccC>ccT p.P713P RP1-63G5.5_ENST00000430883.1_RNA|ELFN2_ENST00000349653.3_Silent_p.P713P NM_052906.3 NP_443138.2 Q5R3F8 LRFN6_HUMAN extracellular leucine-rich repeat and fibronectin type III domain containing 2 713 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) AGTACAGGGCGGGAAAGCTGT 0.706000 7 13 0 0 0.248553 0 0 SSTR4 6754 broad.mit.edu 37 20 23017264 23017264 + Missense_Mutation SNP C C T TCGA-CV-5441-01A-01D-1512-08 TCGA-CV-5441-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e 79ffab90-e307-45fb-a6ce-0d9aea0b7552 g.chr20:23017264C>T ENST00000255008.3 + 1 1208 c.1144C>T c.(1144-1146)Ctc>Ttc p.L382F RP4-753D10.3_ENST00000440921.1_RNA NM_001052.2 NP_001043.2 P31391 SSR4_HUMAN somatostatin receptor 4 382 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) GCGCATCCCCCTCACCAGGAC 0.657000 40 88 0 0 0.840704 0 0 APOB 338 broad.mit.edu 37 2 21230877 21230877 + Missense_Mutation SNP T T C TCGA-CV-5441-01A-01D-1512-08 TCGA-CV-5441-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e 79ffab90-e307-45fb-a6ce-0d9aea0b7552 g.chr2:21230877T>C ENST00000233242.1 - 26 8990 c.8863A>G c.(8863-8865)Act>Gct p.T2955A NM_000384.2 NP_000375.2 P04114 APOB_HUMAN apolipoprotein B 2955 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) CCAAAGGAAGTGAGGGGTCCT 0.413000 79 178 0 0 0.870114 0 0 ZBTB20 26137 broad.mit.edu 37 3 114069727 114069727 + Silent SNP G G T TCGA-CV-5441-01A-01D-1512-08 TCGA-CV-5441-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e 79ffab90-e307-45fb-a6ce-0d9aea0b7552 g.chr3:114069727G>T ENST00000462705.1 - 11 1800 c.979C>A c.(979-981)Cgg>Agg p.R327R ZBTB20_ENST00000474710.1_Silent_p.R400R|ZBTB20_ENST00000481632.1_Silent_p.R327R|ZBTB20_ENST00000393785.2_Silent_p.R327R|ZBTB20_ENST00000357258.3_Silent_p.R327R|ZBTB20_ENST00000471418.1_Silent_p.R327R|ZBTB20_ENST00000464560.1_Silent_p.R327R NM_001164343.1 NP_001157815.1 Q9HC78 ZBT20_HUMAN zinc finger and BTB domain containing 20 400 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 48 LUSC - Lung squamous cell carcinoma(41;0.0581)|Lung(219;0.191) TGGCTGTCCCGCGCCGCCCCA 0.647000 35 71 3.76114e-14 4.76826e-14 0.796494 1 0 SLITRK3 22865 broad.mit.edu 37 3 164907542 164907542 + Silent SNP G G C TCGA-CV-5441-01A-01D-1512-08 TCGA-CV-5441-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e 79ffab90-e307-45fb-a6ce-0d9aea0b7552 g.chr3:164907542G>C ENST00000475390.1 - 2 1520 c.1077C>G c.(1075-1077)ccC>ccG p.P359P SLITRK3_ENST00000241274.3_Silent_p.P359P O94933 SLIK3_HUMAN SLIT and NTRK-like family, member 3 359 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 AAGGAGCAATGGGAGGCTGGT 0.502000 HNSCC(40;0.11) 68 188 0 0 0.870114 0 0 DPP10 57628 broad.mit.edu 37 2 116599915 116599915 + Missense_Mutation SNP T T A TCGA-CV-5441-01A-01D-1512-08 TCGA-CV-5441-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e 79ffab90-e307-45fb-a6ce-0d9aea0b7552 g.chr2:116599915T>A ENST00000410059.1 + 26 2865 c.2385T>A c.(2383-2385)gaT>gaA p.D795E DPP10_ENST00000393147.2_Missense_Mutation_p.D799E|DPP10_ENST00000409163.1_Missense_Mutation_p.D745E|DPP10_ENST00000310323.8_Missense_Mutation_p.D788E NM_001178037.1|NM_020868.3 NP_001171508.1|NP_065919.2 Q8N608 DPP10_HUMAN dipeptidyl-peptidase 10 (non-functional) 795 proteolysis integral to membrane|membrane fraction serine-type peptidase activity breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1) 101 CAGAAGAAGATGAATAATGGA 0.383000 31 50 0 0 0.740014 0 0 P2RX3 5024 broad.mit.edu 37 11 57114095 57114095 + Missense_Mutation SNP G G T TCGA-CV-5441-01A-01D-1512-08 TCGA-CV-5441-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e 79ffab90-e307-45fb-a6ce-0d9aea0b7552 g.chr11:57114095G>T ENST00000263314.2 + 2 231 c.197G>T c.(196-198)gGc>gTc p.G66V NM_002559.3 NP_002550.2 P56373 P2RX3_HUMAN purinergic receptor P2X, ligand-gated ion channel, 3 66 positive regulation of calcium ion transport into cytosol|positive regulation of calcium-mediated signaling integral to plasma membrane ATP binding|extracellular ATP-gated cation channel activity|purinergic nucleotide receptor activity endometrium(4)|kidney(2)|large_intestine(4)|lung(15)|prostate(1) 26 AAGGTGAAGGGCTCCGGACTC 0.547000 92 41 4.37026e-21 6.25157e-21 0.870114 1 0 CBX8 57332 broad.mit.edu 37 17 77768668 77768668 + Silent SNP G G T TCGA-CV-5441-01A-01D-1512-08 TCGA-CV-5441-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e 79ffab90-e307-45fb-a6ce-0d9aea0b7552 g.chr17:77768668G>T ENST00000269385.4 - 5 1053 c.936C>A c.(934-936)ggC>ggA p.G312G NM_020649.2 NP_065700.1 Q9HC52 CBX8_HUMAN chromobox homolog 8 312 negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nuclear chromatin|PcG protein complex methylated histone residue binding breast(1)|central_nervous_system(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1) 14 OV - Ovarian serous cystadenocarcinoma(97;0.0102)|BRCA - Breast invasive adenocarcinoma(99;0.0224) AGCTGGGGGGGCCTGAGCCAT 0.692000 15 24 1.49906e-05 1.64681e-05 0.457914 1 0 LPHN3 23284 broad.mit.edu 37 4 62813846 62813846 + Missense_Mutation SNP G G A TCGA-CV-5441-01A-01D-1512-08 TCGA-CV-5441-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e 79ffab90-e307-45fb-a6ce-0d9aea0b7552 g.chr4:62813846G>A ENST00000512091.1 + 16 3200 c.2453G>A c.(2452-2454)tGt>tAt p.C818Y LPHN3_ENST00000506720.1_Missense_Mutation_p.C886Y|LPHN3_ENST00000511324.1_Missense_Mutation_p.C886Y|LPHN3_ENST00000507164.1_Missense_Mutation_p.C886Y|LPHN3_ENST00000509896.1_Missense_Mutation_p.C886Y|LPHN3_ENST00000514996.1_Missense_Mutation_p.C818Y|LPHN3_ENST00000506700.1_Missense_Mutation_p.C818Y|LPHN3_ENST00000545650.1_Missense_Mutation_p.C818Y|LPHN3_ENST00000508693.1_Missense_Mutation_p.C886Y|LPHN3_ENST00000504896.1_Missense_Mutation_p.C818Y|LPHN3_ENST00000514157.1_Missense_Mutation_p.C818Y|LPHN3_ENST00000508946.1_Missense_Mutation_p.C818Y|LPHN3_ENST00000507625.1_Missense_Mutation_p.C886Y|LPHN3_ENST00000506746.1_Missense_Mutation_p.C886Y|LPHN3_ENST00000514591.1_Missense_Mutation_p.C818Y Q9HAR2 LPHN3_HUMAN latrophilin 3 805 GPS. neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity|sugar binding 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 AACCCTAACTGTTCATTTTGG 0.378000 35 21 0 0 0.812448 0 0 ITGB8 3696 broad.mit.edu 37 7 20449331 20449331 + Missense_Mutation SNP A A T TCGA-CV-5441-01A-01D-1512-08 TCGA-CV-5441-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e 79ffab90-e307-45fb-a6ce-0d9aea0b7552 g.chr7:20449331A>T ENST00000222573.3 + 13 2801 c.2117A>T c.(2116-2118)cAg>cTg p.Q706L ITGB8_ENST00000537992.1_Missense_Mutation_p.Q571L NM_002214.2 NP_002205.1 P26012 ITB8_HUMAN integrin, beta 8 706 cell-matrix adhesion|integrin-mediated signaling pathway|placenta blood vessel development integrin complex protein binding|receptor activity NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(17)|prostate(2)|skin(4)|stomach(2)|urinary_tract(1) 37 ATCATTAGACAGGTGATACTA 0.338000 57 127 0 0 0.870114 0 0 C8orf34 116328 broad.mit.edu 37 8 69633639 69633639 + Missense_Mutation SNP C C A TCGA-CV-5441-01A-01D-1512-08 TCGA-CV-5441-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e 79ffab90-e307-45fb-a6ce-0d9aea0b7552 g.chr8:69633639C>A ENST00000337103.4 + 9 2630 c.1038C>A c.(1036-1038)gaC>gaA p.D346E C8orf34_ENST00000325233.3_Missense_Mutation_p.D115E|C8orf34_ENST00000539993.1_Missense_Mutation_p.D371E|C8orf34_ENST00000518698.1_Missense_Mutation_p.D457E Q49A92 CH034_HUMAN chromosome 8 open reading frame 34 371 signal transduction cAMP-dependent protein kinase regulator activity NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(12)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 36 Epithelial(68;0.0117)|OV - Ovarian serous cystadenocarcinoma(28;0.0227)|all cancers(69;0.0502) AGGAGGGTGACGAATTTGAGA 0.284000 31 36 8.16277e-20 1.14023e-19 0.827153 1 0 PRB1 5542 broad.mit.edu 37 12 11506795 11506795 + Missense_Mutation SNP G G T TCGA-CV-5441-01A-01D-1512-08 TCGA-CV-5441-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e 79ffab90-e307-45fb-a6ce-0d9aea0b7552 g.chr12:11506795G>T ENST00000500254.2 - 3 279 c.242C>A c.(241-243)cCc>cAc p.P81H PRB1_ENST00000546254.1_Missense_Mutation_p.P81H|PRB1_ENST00000545626.1_Missense_Mutation_p.P81H NM_005039.3|NM_199353.2 NP_005030.2|NP_955385.1 P04280 PRP1_HUMAN proline-rich protein BstNI subfamily 1 264 15 X 20 AA approximate tandem repeats of P-P-G-K-P-Q-G-P-P-[PAQ]-Q-[GE]-[GD]- [NKS]-[KSQRN]-[PRQS]-[QS] [GPS]-[PQAR]- [PSR]. extracellular region NS(1)|central_nervous_system(1)|kidney(4)|large_intestine(1)|lung(9)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 20 OV - Ovarian serous cystadenocarcinoma(49;0.185) CCCTTGTGGGGGTGGTCCTTG 0.627000 156 364 3.95789e-20 5.55767e-20 0.870114 1 0 CLCN1 1180 broad.mit.edu 37 7 143028713 143028713 + Silent SNP G G A TCGA-CV-5441-01A-01D-1512-08 TCGA-CV-5441-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e 79ffab90-e307-45fb-a6ce-0d9aea0b7552 g.chr7:143028713G>A ENST00000343257.2 + 10 1221 c.1134G>A c.(1132-1134)aaG>aaA p.K378K NM_000083.2 NP_000074.2 P35523 CLCN1_HUMAN chloride channel, voltage-sensitive 1 378 muscle contraction chloride channel complex|integral to plasma membrane voltage-gated chloride channel activity breast(4)|central_nervous_system(1)|endometrium(1)|large_intestine(11)|lung(26)|ovary(3)|prostate(2)|skin(7)|stomach(1)|upper_aerodigestive_tract(2) 58 Melanoma(164;0.205) GTGTCCGAAAGCACAAGGCCC 0.478000 37 93 0 0 0.827153 0 0 NES 10763 broad.mit.edu 37 1 156639196 156639196 + Missense_Mutation SNP G G A TCGA-CV-5441-01A-01D-1512-08 TCGA-CV-5441-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e 79ffab90-e307-45fb-a6ce-0d9aea0b7552 g.chr1:156639196G>A ENST00000368223.3 - 4 4916 c.4784C>T c.(4783-4785)cCt>cTt p.P1595L NM_006617.1 NP_006608.1 P48681 NEST_HUMAN nestin 1595 Tail. brain development|embryonic camera-type eye development|G2/M transition of mitotic cell cycle|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) CAGGTGAACAGGAGCCCCTGC 0.597000 38 79 0 0 0.804634 0 0 ALOX15B 247 broad.mit.edu 37 17 7943265 7943265 + Missense_Mutation SNP G G T TCGA-CV-5441-01A-01D-1512-08 TCGA-CV-5441-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e 79ffab90-e307-45fb-a6ce-0d9aea0b7552 g.chr17:7943265G>T ENST00000380183.4 + 3 552 c.413G>T c.(412-414)cGc>cTc p.R138L ALOX15B_ENST00000572022.1_Missense_Mutation_p.R138L|ALOX15B_ENST00000573359.1_Missense_Mutation_p.R138L|ALOX15B_ENST00000380173.2_Missense_Mutation_p.R138L NM_001141.2 NP_001132.2 O15296 LX15B_HUMAN arachidonate 15-lipoxygenase, type B 138 Lipoxygenase. induction of apoptosis|leukotriene biosynthetic process|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of growth|prostate gland development|regulation of epithelial cell differentiation cytoplasm arachidonate 15-lipoxygenase activity|iron ion binding|lipoxygenase activity NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(1) 24 CAGCAACAGCGCCAGGAGGAG 0.612000 46 46 6.60958e-23 9.66154e-23 0.870114 1 0 WNK1 65125 broad.mit.edu 37 12 993327 993327 + Silent SNP G G A TCGA-CV-5441-01A-01D-1512-08 TCGA-CV-5441-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e 79ffab90-e307-45fb-a6ce-0d9aea0b7552 g.chr12:993327G>A ENST00000537687.1 + 18 5185 c.4542G>A c.(4540-4542)gcG>gcA p.A1514A WNK1_ENST00000340908.4_Silent_p.A847A|WNK1_ENST00000535572.1_Silent_p.A1007A|WNK1_ENST00000530271.2_Silent_p.A1752A|WNK1_ENST00000315939.6_Silent_p.A1254A NM_001184985.1|NM_213655.4 NP_001171914.1|NP_998820.3 Q9H4A3 WNK1_HUMAN WNK lysine deficient protein kinase 1 1254 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) TTCATTCTGCGGGAAGGCGGT 0.373000 62 137 0 0 0.870114 0 0 ASTN1 460 broad.mit.edu 37 1 176853589 176853589 + Missense_Mutation SNP G G C TCGA-CV-5441-01A-01D-1512-08 TCGA-CV-5441-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e 79ffab90-e307-45fb-a6ce-0d9aea0b7552 g.chr1:176853589G>C ENST00000367654.2 - 19 3149 c.3136C>G c.(3136-3138)Ctt>Gtt p.L1046V ASTN1_ENST00000424564.2_Missense_Mutation_p.L1038V|ASTN1_ENST00000367657.3_Missense_Mutation_p.L1038V|ASTN1_ENST00000361833.2_Missense_Mutation_p.L1038V O14525 ASTN1_HUMAN astrotactin 1 1046 Fibronectin type-III 1. cell migration|neuron cell-cell adhesion integral to membrane NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3) 153 AGGACCACAAGAGTGCTGCTG 0.542000 36 64 0 0 0.812448 0 0 LEPRE1 64175 broad.mit.edu 37 1 43228142 43228142 + Missense_Mutation SNP T T C TCGA-CV-5441-01A-01D-1512-08 TCGA-CV-5441-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e 79ffab90-e307-45fb-a6ce-0d9aea0b7552 g.chr1:43228142T>C ENST00000236040.4 - 2 510 c.470A>G c.(469-471)aAc>aGc p.N157S LEPRE1_ENST00000397054.3_Missense_Mutation_p.N157S|LEPRE1_ENST00000296388.5_Missense_Mutation_p.N157S NM_001243246.1 NP_001230175.1 Q32P28 P3H1_HUMAN leucine proline-enriched proteoglycan (leprecan) 1 157 negative regulation of cell proliferation endoplasmic reticulum|proteinaceous extracellular matrix iron ion binding|L-ascorbic acid 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) CTCCAACTTGTTGATCTAAGA 0.458000 46 92 0 0 0.870114 0 0 LINC00264 645528 broad.mit.edu 37 10 26880266 26880266 + RNA SNP G G A rs138111133 by1000genomes TCGA-CV-5441-01A-01D-1512-08 TCGA-CV-5441-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e 79ffab90-e307-45fb-a6ce-0d9aea0b7552 g.chr10:26880266G>A ENST00000412114.1 + 0 501 NR_026793.1 ACCAAGCCCAGTGGACAGATG 0.443000 4 55 0 0 0.184627 0 0 SERTAD1 29950 broad.mit.edu 37 19 40929371 40929371 + Missense_Mutation SNP G G A TCGA-CV-5441-01A-01D-1512-08 TCGA-CV-5441-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e 79ffab90-e307-45fb-a6ce-0d9aea0b7552 g.chr19:40929371G>A ENST00000357949.4 - 2 241 c.83C>T c.(82-84)cCt>cTt p.P28L NM_013376.3 NP_037508.2 Q9UHV2 SRTD1_HUMAN SERTA domain containing 1 28 positive regulation of cell proliferation|regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent endometrium(2)|lung(1)|prostate(1)|skin(1) 5 Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384) TGTGTGGCCAGGATCTAGCCA 0.627000 12 50 0 0 0.435327 0 0 OR4C46 119749 broad.mit.edu 37 11 51515641 51515641 + Silent SNP C C T TCGA-CV-5441-01A-01D-1512-08 TCGA-CV-5441-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e 79ffab90-e307-45fb-a6ce-0d9aea0b7552 g.chr11:51515641C>T ENST00000328188.1 + 1 360 c.360C>T c.(358-360)caC>caT p.H120H NM_001004703.1 NP_001004703.1 A6NHA9 O4C46_HUMAN olfactory receptor, family 4, subfamily C, member 46 120 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(5)|large_intestine(5)|lung(31)|ovary(3)|skin(3)|upper_aerodigestive_tract(1) 48 CCTATGACCACTATGTGGCCA 0.488000 60 88 0 0 0.870114 0 0 PBK 55872 broad.mit.edu 37 8 27668593 27668593 + Silent SNP C C T TCGA-CV-5441-01A-01D-1512-08 TCGA-CV-5441-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e 79ffab90-e307-45fb-a6ce-0d9aea0b7552 g.chr8:27668593C>T ENST00000301905.4 - 7 1117 c.654G>A c.(652-654)gtG>gtA p.V218V ESCO2_ENST00000397418.2_Intron|PBK_ENST00000522944.1_Silent_p.V229V NM_018492.2 NP_060962.2 Q96KB5 TOPK_HUMAN PDZ binding kinase 218 Protein kinase. mitosis ATP binding|protein binding|protein serine/threonine kinase activity endometrium(1)|large_intestine(2)|lung(1) 4 Ovarian(32;0.000953) UCEC - Uterine corpus endometrioid carcinoma (27;0.0213)|KIRC - Kidney renal clear cell carcinoma(542;0.101)|Kidney(114;0.121)|Colorectal(74;0.141) CATTCTCCTCCACAGCTTCTT 0.428000 26 30 0 0 0.681144 0 0 OR4X2 119764 broad.mit.edu 37 11 48267094 48267094 + Missense_Mutation SNP C C T TCGA-CV-5441-01A-01D-1512-08 TCGA-CV-5441-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e 79ffab90-e307-45fb-a6ce-0d9aea0b7552 g.chr11:48267094C>T ENST00000302329.3 + 1 487 c.439C>T c.(439-441)Cat>Tat p.H147Y NM_001004727.1 NP_001004727.1 Q8NGF9 OR4X2_HUMAN olfactory receptor, family 4, subfamily X, member 2 147 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|large_intestine(4)|lung(12)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1) 20 AGGCTTCATGCATTCCTTTGC 0.498000 68 129 0 0 0.870114 0 0 MGAM 8972 broad.mit.edu 37 7 141719028 141719028 + Nonsense_Mutation SNP G G A TCGA-CV-5441-01A-01D-1512-08 TCGA-CV-5441-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e 79ffab90-e307-45fb-a6ce-0d9aea0b7552 g.chr7:141719028G>A ENST00000475668.2 + 4 411 c.357G>A c.(355-357)tgG>tgA p.W119* MGAM_ENST00000549489.2_Nonsense_Mutation_p.W119* O43451 MGA_HUMAN maltase-glucoamylase (alpha-glucosidase) 119 P-type 1. 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) GCTGTTGCTGGAATCCCCAGG 0.448000 38 112 0 0 0.819951 0 0 ERCC2 2068 broad.mit.edu 37 19 45872213 45872213 + Nonsense_Mutation SNP G G T TCGA-CV-5441-01A-01D-1512-08 TCGA-CV-5441-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e 79ffab90-e307-45fb-a6ce-0d9aea0b7552 g.chr19:45872213G>T ENST00000391945.4 - 4 298 c.221C>A c.(220-222)tCa>tAa p.S74* ERCC2_ENST00000391940.4_Nonsense_Mutation_p.S50*|ERCC2_ENST00000221481.6_Nonsense_Mutation_p.S74*|ERCC2_ENST00000391944.3_Nonsense_Mutation_p.S74*|ERCC2_ENST00000485403.2_Nonsense_Mutation_p.S50* NM_000400.3 NP_000391.1 P18074 ERCC2_HUMAN excision repair cross-complementing rodent repair deficiency, complementation group 2 74 Helicase ATP-binding. cell cycle checkpoint|chromosome segregation|hair cell differentiation|induction of apoptosis|interspecies interaction between organisms|mRNA capping|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein phosphorylation|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|UV protection|viral reproduction cytoplasm|holo TFIIH complex|MMXD complex 5'-3' DNA helicase activity|ATP binding|ATP-dependent DNA helicase activity|DNA binding|iron-sulfur cluster binding|metal ion binding|protein C-terminus binding|protein N-terminus binding large_intestine(4)|lung(2)|ovary(1)|pancreas(1)|stomach(1) 9 Ovarian(192;0.0728)|all_neural(266;0.112) OV - Ovarian serous cystadenocarcinoma(262;0.0226) CACAGTTCTTGAGCAGTAGAT 0.582000 """Mis, N, F, S""" """skin basal cell, skin squamous cell, melanoma""" Nucleotide excision repair (NER) Xeroderma Pigmentosum 29 75 4.22769e-11 5.09418e-11 0.706142 1 0 COL11A1 1301 broad.mit.edu 37 1 103343706 103343706 + Nonsense_Mutation SNP C C A TCGA-CV-5441-01A-01D-1512-08 TCGA-CV-5441-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e 79ffab90-e307-45fb-a6ce-0d9aea0b7552 g.chr1:103343706C>A ENST00000358392.2 - 67 5643 c.5326G>T c.(5326-5328)Gaa>Taa p.E1776* COL11A1_ENST00000512756.1_Nonsense_Mutation_p.E1648*|COL11A1_ENST00000370096.3_Nonsense_Mutation_p.E1764*|COL11A1_ENST00000353414.4_Nonsense_Mutation_p.E1725* NM_080629.2 NP_542196.2 P12107 COBA1_HUMAN collagen, type XI, alpha 1 1764 Fibrillar collagen NC1. 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) ACAGTCTTTTCATAGCCTTTT 0.303000 12 57 3.07112e-06 3.45178e-06 0.387290 1 0 USH2A 7399 broad.mit.edu 37 1 216258096 216258096 + Missense_Mutation SNP T T G TCGA-CV-5441-01A-01D-1512-08 TCGA-CV-5441-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e 79ffab90-e307-45fb-a6ce-0d9aea0b7552 g.chr1:216258096T>G ENST00000366943.2 - 25 5497 c.5111A>C c.(5110-5112)aAc>aCc p.N1704T RP11-22M7.2_ENST00000445619.1_RNA|RP11-22M7.2_ENST00000442606.1_RNA|RP11-22M7.2_ENST00000446411.1_RNA|USH2A_ENST00000307340.3_Missense_Mutation_p.N1704T|RP11-22M7.2_ENST00000430890.1_RNA O75445 USH2A_HUMAN Usher syndrome 2A (autosomal recessive, mild) 1704 Laminin G-like 1. 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) CTCCCAGCTGTTATACACGTT 0.418000 HNSCC(13;0.011) 25 134 0 0 0.654019 0 0 PIK3C2A 5286 broad.mit.edu 37 11 17169081 17169081 + Missense_Mutation SNP G G C TCGA-CV-5441-01A-01D-1512-08 TCGA-CV-5441-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e 79ffab90-e307-45fb-a6ce-0d9aea0b7552 g.chr11:17169081G>C ENST00000265970.7 - 5 1542 c.1543C>G c.(1543-1545)Caa>Gaa p.Q515E PIK3C2A_ENST00000531428.1_Intron|PIK3C2A_ENST00000540361.1_Missense_Mutation_p.Q135E NM_002645.2 NP_002636.2 O00443 P3C2A_HUMAN phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 alpha 515 cell communication|phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling clathrin-coated vesicle|Golgi apparatus|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity central_nervous_system(4)|endometrium(5)|kidney(5)|large_intestine(7)|lung(24)|ovary(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 58 Phosphatidylserine(DB00144) GCCAGATTTTGACACATTGCA 0.358000 15 43 0 0 0.500413 0 0 SYT10 341359 broad.mit.edu 37 12 33538213 33538213 + Missense_Mutation SNP A A C TCGA-CV-5441-01A-01D-1512-08 TCGA-CV-5441-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e 79ffab90-e307-45fb-a6ce-0d9aea0b7552 g.chr12:33538213A>C ENST00000228567.3 - 4 1387 c.1091T>G c.(1090-1092)cTg>cGg p.L364R SYT10_ENST00000535526.1_Missense_Mutation_p.L183R NM_198992.3 NP_945343.1 Q6XYQ8 SYT10_HUMAN synaptotagmin X 364 cell junction|integral to membrane|synaptic vesicle membrane metal ion binding|transporter activity NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(3)|skin(4)|urinary_tract(1) 42 Lung NSC(5;8.37e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0334) GATTTCACCCAGGTCTATACT 0.398000 15 40 0 0 0.500413 0 0 CDC5L 988 broad.mit.edu 37 6 44392275 44392275 + Missense_Mutation SNP T T A TCGA-CV-5441-01A-01D-1512-08 TCGA-CV-5441-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e 79ffab90-e307-45fb-a6ce-0d9aea0b7552 g.chr6:44392275T>A ENST00000371477.3 + 11 1823 c.1524T>A c.(1522-1524)gaT>gaA p.D508E NM_001253.3 NP_001244.1 Q99459 CDC5L_HUMAN cell division cycle 5-like 508 Interaction with DAPK3 (By similarity).|Interaction with PPP1R8. cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent catalytic step 2 spliceosome|cytoplasm|nuclear speck|nucleolus DNA binding|RNA binding breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|skin(4) 29 all_lung(25;0.00433)|Ovarian(13;0.0273)|all_hematologic(164;0.208) Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536) GTGAAATAGATGATACTTACA 0.453000 4 73 0 0 0.150653 0 0 PDZRN3 23024 broad.mit.edu 37 3 73433074 73433074 + Missense_Mutation SNP C C A TCGA-CV-5441-01A-01D-1512-08 TCGA-CV-5441-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e 79ffab90-e307-45fb-a6ce-0d9aea0b7552 g.chr3:73433074C>A ENST00000263666.4 - 10 2757 c.2643G>T c.(2641-2643)caG>caT p.Q881H PDZRN3_ENST00000535920.1_Missense_Mutation_p.Q603H|PDZRN3_ENST00000466780.1_Missense_Mutation_p.Q538H|PDZRN3_ENST00000462146.2_Missense_Mutation_p.Q538H|PDZRN3_ENST00000479530.1_Missense_Mutation_p.Q598H NM_015009.1 NP_055824.1 Q9UPQ7 PZRN3_HUMAN PDZ domain containing ring finger 3 881 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) GCATGTAGCTCTGGTAGTGCT 0.642000 29 69 7.6516e-34 1.19e-33 0.750413 1 0 PTK2B 2185 broad.mit.edu 37 8 27311740 27311740 + Missense_Mutation SNP C C T TCGA-CV-5441-01A-01D-1512-08 TCGA-CV-5441-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e 79ffab90-e307-45fb-a6ce-0d9aea0b7552 g.chr8:27311740C>T ENST00000397501.1 + 34 3473 c.2665C>T c.(2665-2667)Cgg>Tgg p.R889W PTK2B_ENST00000338238.4_Missense_Mutation_p.R847W|PTK2B_ENST00000346049.5_Missense_Mutation_p.R889W|PTK2B_ENST00000420218.2_Missense_Mutation_p.R847W|PTK2B_ENST00000544172.1_Missense_Mutation_p.R889W|PTK2B_ENST00000517339.1_Missense_Mutation_p.R847W NM_173174.2 NP_775266.1 Q14289 FAK2_HUMAN protein tyrosine kinase 2 beta 889 Focal adhesion targeting (FAT).|Interaction with TGFB1I1 (By similarity). 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) GGAGCTGGTGCGGGCCGTGCT 0.622000 30 26 0 0 0.729181 0 0 ZNF536 9745 broad.mit.edu 37 19 31025860 31025860 + Silent SNP T T C TCGA-CV-5441-01A-01D-1512-08 TCGA-CV-5441-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e 79ffab90-e307-45fb-a6ce-0d9aea0b7552 g.chr19:31025860T>C ENST00000355537.3 + 3 2424 c.2277T>C c.(2275-2277)acT>acC p.T759T NM_014717.1 NP_055532.1 O15090 ZN536_HUMAN zinc finger protein 536 759 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) GTGGGAAAACTTTCCGGACAT 0.612000 49 109 0 0 0.870114 0 0 STON1-GTF2A1L 286749 broad.mit.edu 37 2 48874048 48874048 + Missense_Mutation SNP G G A TCGA-CV-5441-01A-01D-1512-08 TCGA-CV-5441-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e 79ffab90-e307-45fb-a6ce-0d9aea0b7552 g.chr2:48874048G>A ENST00000394754.1 + 8 3071 c.2957G>A c.(2956-2958)aGc>aAc p.S986N LHCGR_ENST00000420913.3_Intron|STON1-GTF2A1L_ENST00000309827.2_Missense_Mutation_p.S986N|GTF2A1L_ENST00000403751.3_Missense_Mutation_p.S282N|STON1-GTF2A1L_ENST00000405008.1_Missense_Mutation_p.S986N|STON1-GTF2A1L_ENST00000402114.2_Missense_Mutation_p.S986N|GTF2A1L_ENST00000430487.2_Missense_Mutation_p.S248N|STON1-GTF2A1L_ENST00000394751.3_Missense_Mutation_p.S939N NM_172311.2 NP_758515.1 B7ZL16 B7ZL16_HUMAN 939 endocytosis|intracellular protein transport|transcription initiation from RNA polymerase II promoter clathrin adaptor complex|transcription factor TFIIA complex NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(22)|liver(2)|lung(49)|ovary(3)|pancreas(1)|prostate(4)|skin(4) 91 all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176) Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151) CTCTCCACAAGCCCTCATGGG 0.428000 23 59 0 0 0.681144 0 0 RALYL 138046 broad.mit.edu 37 8 85799926 85799926 + Missense_Mutation SNP C C A TCGA-CV-5441-01A-01D-1512-08 TCGA-CV-5441-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e 79ffab90-e307-45fb-a6ce-0d9aea0b7552 g.chr8:85799926C>A ENST00000521268.1 + 8 1878 c.773C>A c.(772-774)cCt>cAt p.P258H RALYL_ENST00000518566.1_Missense_Mutation_p.P247H|RALYL_ENST00000517638.1_Missense_Mutation_p.P271H|RALYL_ENST00000522455.1_Missense_Mutation_p.P258H|RALYL_ENST00000521695.1_Missense_Mutation_p.P258H|RALYL_ENST00000521376.1_Intron|RALYL_ENST00000523850.1_Missense_Mutation_p.P185H NM_173848.5 NP_776247.3 Q86SE5 RALYL_HUMAN RALY RNA binding protein-like 258 identical protein binding|nucleotide binding|RNA binding p.P258S(2) endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(1) 24 ACAGAGGAGCCTGCTGAAGGA 0.512000 84 79 1.11057e-38 1.77891e-38 0.870114 1 0 MARCH11 441061 broad.mit.edu 37 5 16067854 16067854 + Missense_Mutation SNP C C A TCGA-CV-5441-01A-01D-1512-08 TCGA-CV-5441-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e 79ffab90-e307-45fb-a6ce-0d9aea0b7552 g.chr5:16067854C>A ENST00000332432.8 - 4 1134 c.935G>T c.(934-936)tGg>tTg p.W312L NM_001102562.1 NP_001096032.1 A6NNE9 MARHB_HUMAN membrane-associated ring finger (C3HC4) 11 312 cytoplasmic vesicle membrane|integral to membrane ligase activity|zinc ion binding NS(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(14)|urinary_tract(1) 20 CACAGCTCGCCAGCGCTTAAA 0.428000 21 40 2.39187e-15 3.07609e-15 0.575678 1 0 LRP1B 53353 broad.mit.edu 37 2 141359046 141359046 + Missense_Mutation SNP T T C TCGA-CV-5441-01A-01D-1512-08 TCGA-CV-5441-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e 79ffab90-e307-45fb-a6ce-0d9aea0b7552 g.chr2:141359046T>C ENST00000389484.3 - 42 7933 c.6962A>G c.(6961-6963)cAt>cGt p.H2321R NM_018557.2 NP_061027.2 Q9NZR2 LRP1B_HUMAN low density lipoprotein receptor-related protein 1B 2321 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) GGCTAGCACATGTGGATGGTC 0.403000 TSP Lung(27;0.18) 15 45 0 0 0.575678 0 0 BACH1 571 broad.mit.edu 37 21 30693704 30693704 + Missense_Mutation SNP G G T TCGA-CV-5441-01A-01D-1512-08 TCGA-CV-5441-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e 79ffab90-e307-45fb-a6ce-0d9aea0b7552 g.chr21:30693704G>T ENST00000399921.1 + 2 346 c.103G>T c.(103-105)Gat>Tat p.D35Y BACH1_ENST00000286800.3_Missense_Mutation_p.D35Y NM_206866.1 NP_996749.1 O14867 BACH1_HUMAN BTB and CNC homology 1, basic leucine zipper transcription factor 1 35 BTB. nucleus protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|endometrium(5)|kidney(2)|large_intestine(8)|liver(1)|lung(7)|ovary(1)|urinary_tract(2) 27 TGTGCTGTGCGATGTCACCAT 0.522000 52 159 1.66251e-12 2.05413e-12 0.870114 1 0 MOXD1 26002 broad.mit.edu 37 6 132713397 132713397 + Missense_Mutation SNP C C A TCGA-CV-5441-01A-01D-1512-08 TCGA-CV-5441-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e 79ffab90-e307-45fb-a6ce-0d9aea0b7552 g.chr6:132713397C>A ENST00000392401.3 - 2 354 c.306G>T c.(304-306)aaG>aaT p.K102N MOXD1_ENST00000367963.3_Intron Q6UVY6 MOXD1_HUMAN monooxygenase, DBH-like 1 0 DOMON. catecholamine metabolic process endoplasmic reticulum membrane|integral to membrane copper ion binding|dopamine beta-monooxygenase activity breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|prostate(3)|skin(1) 37 Breast(56;0.0495) OV - Ovarian serous cystadenocarcinoma(155;0.0132)|GBM - Glioblastoma multiforme(226;0.0191) GCTGAAGACACTTCGCATCAC 0.448000 9 19 0.000274275 0.000290569 0.307466 1 0 SYNE1 23345 broad.mit.edu 37 6 152665308 152665308 + Missense_Mutation SNP G G T TCGA-CV-5441-01A-01D-1512-08 TCGA-CV-5441-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e 79ffab90-e307-45fb-a6ce-0d9aea0b7552 g.chr6:152665308G>T ENST00000367255.5 - 74 12734 c.12133C>A c.(12133-12135)Ctg>Atg p.L4045M SYNE1_ENST00000423061.1_Missense_Mutation_p.L3974M|SYNE1_ENST00000448038.1_Missense_Mutation_p.L3974M|SYNE1_ENST00000341594.5_Missense_Mutation_p.L3910M|SYNE1_ENST00000265368.4_Missense_Mutation_p.L4045M NM_182961.3 NP_892006.3 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 4045 cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex 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) CACTGCTGCAGGGTGTCTTGT 0.493000 HNSCC(10;0.0054) 111 84 1.472e-32 2.27606e-32 0.870114 1 0 MYOZ3 91977 broad.mit.edu 37 5 150056389 150056389 + Missense_Mutation SNP A A T TCGA-CV-5441-01A-01D-1512-08 TCGA-CV-5441-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e 79ffab90-e307-45fb-a6ce-0d9aea0b7552 g.chr5:150056389A>T ENST00000297130.4 + 7 907 c.708A>T c.(706-708)agA>agT p.R236S MYOZ3_ENST00000456566.2_3'UTR|MYOZ3_ENST00000517768.1_Missense_Mutation_p.R236S|MYOZ3_ENST00000520112.1_Missense_Mutation_p.S153C NM_001122853.2|NM_133371.4 NP_001116325.1|NP_588612.2 Q8TDC0 MYOZ3_HUMAN myozenin 3 236 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) GCTTCAACAGAGTGGCCCAGG 0.637000 35 81 0 0 0.788014 0 0 FSTL5 56884 broad.mit.edu 37 4 162841665 162841665 + Silent SNP C C A TCGA-CV-5441-01A-01D-1512-08 TCGA-CV-5441-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e 79ffab90-e307-45fb-a6ce-0d9aea0b7552 g.chr4:162841665C>A ENST00000306100.5 - 4 736 c.300G>T c.(298-300)gtG>gtT p.V100V FSTL5_ENST00000379164.4_Silent_p.V99V|FSTL5_ENST00000536695.1_Silent_p.V99V|FSTL5_ENST00000427802.2_Silent_p.V99V NM_001128427.2|NM_020116.4 NP_001121899.1|NP_064501.2 Q8N475 FSTL5_HUMAN follistatin-like 5 100 Kazal-like. extracellular region calcium ion binding central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 91 all_hematologic(180;0.24) COAD - Colon adenocarcinoma(41;0.179) CAGATCCACACACAGGTTTGT 0.443000 48 31 2.01872e-29 3.05088e-29 0.870114 1 0 KLHL7 55975 broad.mit.edu 37 7 23205333 23205333 + Missense_Mutation SNP A A G TCGA-CV-5441-01A-01D-1512-08 TCGA-CV-5441-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e 79ffab90-e307-45fb-a6ce-0d9aea0b7552 g.chr7:23205333A>G ENST00000322231.7 + 9 1377 c.887A>G c.(886-888)gAc>gGc p.D296G KLHL7_ENST00000545443.1_Missense_Mutation_p.D296G|KLHL7_ENST00000542558.1_Missense_Mutation_p.D93G|KLHL7_ENST00000539124.1_Missense_Mutation_p.D242G|KLHL7_ENST00000409689.1_Missense_Mutation_p.D270G|KLHL7_ENST00000339077.4_Missense_Mutation_p.D318G Q8IXQ5 KLHL7_HUMAN kelch-like family member 7 318 Golgi apparatus|nucleolus|plasma membrane breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 AGCTGGACAGACATCCGCTGC 0.403000 26 52 0 0 0.717897 0 0 MKRN3 7681 broad.mit.edu 37 15 23811400 23811400 + Silent SNP G G A TCGA-CV-5441-01A-01D-1512-08 TCGA-CV-5441-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e 79ffab90-e307-45fb-a6ce-0d9aea0b7552 g.chr15:23811400G>A ENST00000314520.3 + 1 947 c.471G>A c.(469-471)gcG>gcA p.A157A MKRN3_ENST00000564592.1_Intron|MKRN3_ENST00000568252.1_Intron NM_005664.3 NP_005655.1 Q13064 MKRN3_HUMAN makorin ring finger protein 3 157 ribonucleoprotein complex ligase activity|nucleic acid binding|zinc ion binding p.A157A(1) breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(33)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 61 all_cancers(20;8.44e-25)|all_epithelial(15;3.69e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000353)|Colorectal(260;0.14) all cancers(64;3.02e-06)|Epithelial(43;1.94e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0012) AGGAAGTGGCGGAAGCCCCCC 0.642000 17 60 0 0 0.575678 0 0 ARHGAP22 58504 broad.mit.edu 37 10 49763518 49763518 + Missense_Mutation SNP C C A TCGA-CV-5441-01A-01D-1512-08 TCGA-CV-5441-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e 79ffab90-e307-45fb-a6ce-0d9aea0b7552 g.chr10:49763518C>A ENST00000249601.4 - 3 608 c.312G>T c.(310-312)gaG>gaT p.E104D ARHGAP22_ENST00000374172.1_5'UTR|ARHGAP22_ENST00000417912.2_Missense_Mutation_p.E104D|ARHGAP22_ENST00000435790.2_Missense_Mutation_p.E110D NM_001256024.1|NM_021226.3 NP_001242953.1|NP_067049.2 Q7Z5H3 RHG22_HUMAN Rho GTPase activating protein 22 104 PH. 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 CTGGGCTGATCTCAAAGAGGT 0.577000 47 108 2.55665e-31 3.89688e-31 0.870114 1 0 ZSCAN5B 342933 broad.mit.edu 37 19 56703218 56703218 + Splice_Site SNP C C A TCGA-CV-5441-01A-01D-1512-08 TCGA-CV-5441-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e 79ffab90-e307-45fb-a6ce-0d9aea0b7552 g.chr19:56703218C>A ENST00000586855.2 - 3 902 c.e3+1 ZSCAN5B_ENST00000358992.3_Splice_Site A6NJL1 ZSA5B_HUMAN zinc finger and SCAN domain containing 5B 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 CACACACTCACCTGCCTCCTG 0.607000 12 31 1.5739e-10 1.87954e-10 0.500413 1 0 SYNE1 23345 broad.mit.edu 37 6 152623106 152623106 + Silent SNP G G A TCGA-CV-5441-01A-01D-1512-08 TCGA-CV-5441-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e 79ffab90-e307-45fb-a6ce-0d9aea0b7552 g.chr6:152623106G>A ENST00000367255.5 - 92 18040 c.17439C>T c.(17437-17439)acC>acT p.T5813T SYNE1_ENST00000423061.1_Silent_p.T5742T|SYNE1_ENST00000356820.4_Silent_p.T337T|SYNE1_ENST00000448038.1_Silent_p.T5742T|SYNE1_ENST00000341594.5_Silent_p.T5425T|SYNE1_ENST00000265368.4_Silent_p.T5813T NM_182961.3 NP_892006.3 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 5813 cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex 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) TCAGCAGCATGGTGGCGTGCT 0.597000 HNSCC(10;0.0054) 28 110 0 0 0.717897 0 0 SLC13A1 6561 broad.mit.edu 37 7 122787212 122787212 + Splice_Site SNP C C T rs150284958 TCGA-CV-5441-01A-01D-1512-08 TCGA-CV-5441-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e 79ffab90-e307-45fb-a6ce-0d9aea0b7552 g.chr7:122787212C>T ENST00000194130.2 - 7 852 c.e7+1 SLC13A1_ENST00000539873.1_Splice_Site NM_022444.3 NP_071889.2 Q9BZW2 S13A1_HUMAN solute carrier family 13 (sodium/sulfate symporter), member 1 integral to membrane|plasma membrane sodium:sulfate symporter activity breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(20)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 45 Succinic acid(DB00139) AGGTTACTTACGTATTGAAAT 0.358000 35 38 0 0 0.804634 0 0 CTNNA3 29119 broad.mit.edu 37 10 68280484 68280484 + Silent SNP C C A TCGA-CV-5441-01A-01D-1512-08 TCGA-CV-5441-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e 79ffab90-e307-45fb-a6ce-0d9aea0b7552 g.chr10:68280484C>A ENST00000433211.1 - 11 1596 c.1422G>T c.(1420-1422)gcG>gcT p.A474A CTNNA3_ENST00000373744.4_Silent_p.A474A NM_013266.2 NP_037398.2 Q9UI47 CTNA3_HUMAN catenin (cadherin-associated protein), alpha 3 474 cell-cell adhesion actin cytoskeleton|cytoplasm|fascia adherens cadherin binding|structural molecule activity breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(1)|lung(50)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1) 95 TGTTTTTGACCGCTTGACTTT 0.378000 43 94 3.7052e-28 5.56821e-28 0.864702 1 0 PDE8B 8622 broad.mit.edu 37 5 76703252 76703252 + Missense_Mutation SNP C C A TCGA-CV-5441-01A-01D-1512-08 TCGA-CV-5441-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e 79ffab90-e307-45fb-a6ce-0d9aea0b7552 g.chr5:76703252C>A ENST00000264917.5 + 13 1380 c.1335C>A c.(1333-1335)caC>caA p.H445Q PDE8B_ENST00000333194.4_Missense_Mutation_p.H445Q|PDE8B_ENST00000346042.3_Missense_Mutation_p.H348Q|PDE8B_ENST00000342343.4_Missense_Mutation_p.H425Q|PDE8B_ENST00000340978.3_Missense_Mutation_p.H398Q NM_003719.3 NP_003710.1 O95263 PDE8B_HUMAN phosphodiesterase 8B 445 cyclic nucleotide metabolic process|regulation of transcription, DNA-dependent cytosol 3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|two-component response regulator activity GMDS/PDE8B(2) NS(1)|autonomic_ganglia(2)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(10)|lung(15)|ovary(1)|prostate(2)|skin(3) 40 all_lung(232;0.00043)|Lung NSC(167;0.00114)|Ovarian(174;0.0107)|Prostate(461;0.0605) OV - Ovarian serous cystadenocarcinoma(54;2.21e-49)|Epithelial(54;5.82e-43)|all cancers(79;4.06e-38) CGAGGATCCACTCCATGACCA 0.582000 23 67 3.73988e-18 5.00209e-18 0.706142 1 0 INHBB 3625 broad.mit.edu 37 2 121107382 121107382 + Missense_Mutation SNP G G T TCGA-CV-5441-01A-01D-1512-08 TCGA-CV-5441-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e 79ffab90-e307-45fb-a6ce-0d9aea0b7552 g.chr2:121107382G>T ENST00000295228.3 + 2 1202 c.1156G>T c.(1156-1158)Gat>Tat p.D386Y NM_002193.2 NP_002184.2 P09529 INHBB_HUMAN inhibin, beta B 386 activin receptor signaling pathway|cellular response to insulin stimulus|cellular response to starvation|defense response|fat cell differentiation|growth|negative regulation of follicle-stimulating hormone secretion|negative regulation of hepatocyte growth factor biosynthetic process|negative regulation of insulin secretion|ovarian follicle development|positive regulation of follicle-stimulating hormone secretion|positive regulation of ovulation extracellular region|perinuclear region of cytoplasm cytokine activity|growth factor activity|hormone activity|host cell surface receptor binding|protein homodimerization activity NS(1)|breast(1)|endometrium(2)|large_intestine(3)|lung(4)|pancreas(2)|skin(2) 15 Prostate(154;0.122) GCTGTACTTCGATGATGAGTA 0.607000 19 51 1.56452e-12 1.93755e-12 0.557998 1 0 TRPM1 4308 broad.mit.edu 37 15 31324988 31324988 + Silent SNP G G A TCGA-CV-5441-01A-01D-1512-08 TCGA-CV-5441-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e 79ffab90-e307-45fb-a6ce-0d9aea0b7552 g.chr15:31324988G>A ENST00000542188.1 - 21 3220 c.2907C>T c.(2905-2907)atC>atT p.I969I TRPM1_ENST00000397795.2_Silent_p.I930I|RP11-348B17.1_ENST00000561299.1_RNA|TRPM1_ENST00000256552.6_Silent_p.I952I|RP11-348B17.1_ENST00000558755.1_RNA NM_001252020.1 NP_001238949.1 Q7Z4N2 TRPM1_HUMAN transient receptor potential cation channel, subfamily M, member 1 930 cellular response to light stimulus|visual perception integral to plasma membrane calcium channel activity|receptor activity NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3) 99 all_lung(180;1.92e-11) all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199) CCACACAGTAGATCACCCGGC 0.473000 42 69 0 0 0.853193 0 0 OR2B6 26212 broad.mit.edu 37 6 27925796 27925796 + Silent SNP C C T TCGA-CV-5441-01A-01D-1512-08 TCGA-CV-5441-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e 79ffab90-e307-45fb-a6ce-0d9aea0b7552 g.chr6:27925796C>T ENST00000244623.1 + 1 778 c.778C>T c.(778-780)Ctg>Ttg p.L260L NM_012367.1 NP_036499.1 P58173 OR2B6_HUMAN olfactory receptor, family 2, subfamily B, member 6 260 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 CTCTGTGTACCTGCAACCACC 0.453000 112 61 0 0 0.870114 0 0 MDH1B 130752 broad.mit.edu 37 2 207621966 207621966 + Missense_Mutation SNP C C A TCGA-CV-5441-01A-01D-1512-08 TCGA-CV-5441-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e 79ffab90-e307-45fb-a6ce-0d9aea0b7552 g.chr2:207621966C>A ENST00000374412.3 - 3 540 c.265G>T c.(265-267)Gct>Tct p.A89S MDH1B_ENST00000454776.2_Missense_Mutation_p.A89S|MDH1B_ENST00000449792.1_5'UTR|MDH1B_ENST00000392214.2_Missense_Mutation_p.A89S NM_001039845.1 NP_001034934.1 Q5I0G3 MDH1B_HUMAN malate dehydrogenase 1B, NAD (soluble) 89 carbohydrate metabolic process|malate metabolic process|tricarboxylic acid cycle binding|malate dehydrogenase activity NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(14)|ovary(4)|stomach(1) 34 LUSC - Lung squamous cell carcinoma(261;0.0763)|Epithelial(149;0.131)|Lung(261;0.145) TATACCTGAGCATGCTCCAGG 0.363000 25 92 3.7963e-18 5.06489e-18 0.654019 1 0 PCDHB13 56123 broad.mit.edu 37 5 140595271 140595271 + Missense_Mutation SNP G G T TCGA-CV-5441-01A-01D-1512-08 TCGA-CV-5441-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e 79ffab90-e307-45fb-a6ce-0d9aea0b7552 g.chr5:140595271G>T ENST00000341948.4 + 1 1763 c.1576G>T c.(1576-1578)Ggg>Tgg p.G526W NM_018933.2 NP_061756.1 Q9Y5F0 PCDBD_HUMAN 526 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) GGCCCTGCAGGGGTTCCAGTT 0.692000 63 50 2.165e-29 3.26275e-29 0.870114 1 0 SKI 6497 broad.mit.edu 37 1 2160689 2160689 + Nonsense_Mutation SNP A A T TCGA-CV-5441-01A-01D-1512-08 TCGA-CV-5441-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e 79ffab90-e307-45fb-a6ce-0d9aea0b7552 g.chr1:2160689A>T ENST00000378536.4 + 1 556 c.484A>T c.(484-486)Aaa>Taa p.K162* NM_003036.3 NP_003027.1 P12755 SKI_HUMAN v-ski avian sarcoma viral oncogene homolog 162 anterior/posterior axis specification|BMP signaling pathway|bone morphogenesis|cell motility|cell proliferation|embryonic limb morphogenesis|face morphogenesis|lens morphogenesis in camera-type eye|myelination in peripheral nervous system|myotube differentiation|negative regulation of activin receptor signaling pathway|negative regulation of BMP signaling pathway|negative regulation of fibroblast proliferation|negative regulation of osteoblast differentiation|negative regulation of Schwann cell proliferation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|neural tube closure|nose morphogenesis|olfactory bulb development|palate development|positive regulation of DNA binding|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|protein homotrimerization|regulation of apoptosis|retina development in camera-type eye|skeletal muscle fiber development|SMAD protein signal transduction|somatic stem cell maintenance|transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway cytoplasm|PML body|transcription factor complex|transcriptional repressor complex histone deacetylase inhibitor activity|nucleotide binding|protein domain specific binding|protein kinase binding|repressing transcription factor binding|SMAD binding|transcription corepressor activity|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding central_nervous_system(1)|kidney(2)|lung(5)|prostate(1)|stomach(1) 10 all_cancers(77;0.000139)|all_epithelial(69;4.45e-05)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) Epithelial(90;2.14e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.72e-29)|GBM - Glioblastoma multiforme(42;2.45e-08)|Colorectal(212;5.33e-05)|COAD - Colon adenocarcinoma(227;0.000228)|Kidney(185;0.00268)|BRCA - Breast invasive adenocarcinoma(365;0.00471)|STAD - Stomach adenocarcinoma(132;0.0147)|KIRC - Kidney renal clear cell carcinoma(229;0.0385)|Lung(427;0.207) GGAGATCCTCAAAGTCATGGG 0.662000 17 5 0 0 0.500413 0 0 CHD5 26038 broad.mit.edu 37 1 6188634 6188634 + Missense_Mutation SNP T T A TCGA-CV-5441-01A-01D-1512-08 TCGA-CV-5441-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e 79ffab90-e307-45fb-a6ce-0d9aea0b7552 g.chr1:6188634T>A ENST00000262450.3 - 24 3754 c.3655A>T c.(3655-3657)Atc>Ttc p.I1219F CHD5_ENST00000378021.1_Missense_Mutation_p.I76F NM_015557.2 NP_056372.1 Q8TDI0 CHD5_HUMAN chromodomain helicase DNA binding protein 5 1219 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) ACATCAGGGATGGGTGTGACC 0.632000 21 47 0 0 0.592651 0 0 EFEMP2 30008 broad.mit.edu 37 11 65638688 65638688 + Missense_Mutation SNP C C T TCGA-CV-5441-01A-01D-1512-08 TCGA-CV-5441-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e 79ffab90-e307-45fb-a6ce-0d9aea0b7552 g.chr11:65638688C>T ENST00000307998.6 - 4 537 c.307G>A c.(307-309)Gct>Act p.A103T EFEMP2_ENST00000528176.1_Missense_Mutation_p.A103T NM_016938.4 NP_058634.4 O95967 FBLN4_HUMAN EGF containing fibulin-like extracellular matrix protein 2 103 AQHPNPCPP -> VNTQPLPT (in Ref. 2; AAC62108). 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) GGGTGTTGAGCGGGAGGCACT 0.652000 35 122 0 0 0.870114 0 0 TMC2 117532 broad.mit.edu 37 20 2592857 2592857 + Missense_Mutation SNP A A G TCGA-CV-5441-01A-01D-1512-08 TCGA-CV-5441-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e 79ffab90-e307-45fb-a6ce-0d9aea0b7552 g.chr20:2592857A>G ENST00000358864.1 + 13 1629 c.1614A>G c.(1612-1614)atA>atG p.I538M TMC2_ENST00000496948.1_3'UTR NM_080751.2 NP_542789.2 Q8TDI7 TMC2_HUMAN transmembrane channel-like 2 538 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 AAGAGACAATAAAGAACATCA 0.502000 49 153 0 0 0.870114 0 0 DTX3 196403 broad.mit.edu 37 12 58001107 58001107 + Missense_Mutation SNP G G T TCGA-CV-5441-01A-01D-1512-08 TCGA-CV-5441-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e 79ffab90-e307-45fb-a6ce-0d9aea0b7552 g.chr12:58001107G>T ENST00000548198.1 + 3 1965 c.461G>T c.(460-462)cGg>cTg p.R154L DTX3_ENST00000551632.1_Missense_Mutation_p.R157L|DTX3_ENST00000337737.3_Missense_Mutation_p.R154L|DTX3_ENST00000548804.1_Missense_Mutation_p.R154L Q8N9I9 DTX3_HUMAN deltex homolog 3 (Drosophila) 154 Notch signaling pathway cytoplasm zinc ion binding NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(6)|urinary_tract(1) 12 Melanoma(17;0.122) cctcgccttcGGGAGGAGGCA 0.672000 5 21 1.23904e-05 1.36396e-05 0.184627 1 0 HMCN1 83872 broad.mit.edu 37 1 185833728 185833728 + Missense_Mutation SNP G G C TCGA-CV-5441-01A-01D-1512-08 TCGA-CV-5441-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e 79ffab90-e307-45fb-a6ce-0d9aea0b7552 g.chr1:185833728G>C ENST00000271588.4 + 3 695 c.466G>C c.(466-468)Gtg>Ctg p.V156L HMCN1_ENST00000367492.2_Missense_Mutation_p.V156L NM_031935.2 NP_114141.2 Q96RW7 HMCN1_HUMAN hemicentin 1 156 VWFA. 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 CACCCATGAGGTGCTGCAACT 0.418000 13 27 0 0 0.435327 0 0 USP24 23358 broad.mit.edu 37 1 55599818 55599818 + Silent SNP C C T TCGA-CV-5441-01A-01D-1512-08 TCGA-CV-5441-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e 79ffab90-e307-45fb-a6ce-0d9aea0b7552 g.chr1:55599818C>T ENST00000294383.6 - 30 3305 c.3306G>A c.(3304-3306)cgG>cgA p.R1102R USP24_ENST00000407756.1_Silent_p.R942R NM_015306.2 NP_056121.2 Q9UPU5 UBP24_HUMAN ubiquitin specific peptidase 24 1102 ubiquitin-dependent protein catabolic process binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity breast(4)|cervix(1)|endometrium(8)|kidney(13)|large_intestine(7)|lung(16)|ovary(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 60 GCAGAAGCTTCCGTACTCGTA 0.333000 18 32 0 0 0.539581 0 0 ADAT1 23536 broad.mit.edu 37 16 75646689 75646689 + Missense_Mutation SNP C C A TCGA-CV-5441-01A-01D-1512-08 TCGA-CV-5441-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e 79ffab90-e307-45fb-a6ce-0d9aea0b7552 g.chr16:75646689C>A ENST00000307921.3 - 7 640 c.495G>T c.(493-495)tgG>tgT p.W165C NM_012091.3 NP_036223.2 Q9BUB4 ADAT1_HUMAN adenosine deaminase, tRNA-specific 1 165 A to I editase. tRNA processing metal ion binding|RNA binding|tRNA-specific adenosine deaminase activity breast(1)|endometrium(4)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(1)|stomach(1) 19 AGTTGTGGGCCCAATTTCTGA 0.463000 20 49 7.87624e-14 9.89153e-14 0.639603 1 0 KRTAP19-3 337970 broad.mit.edu 37 21 31864055 31864055 + Missense_Mutation SNP C C A TCGA-CV-5441-01A-01D-1512-08 TCGA-CV-5441-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e 79ffab90-e307-45fb-a6ce-0d9aea0b7552 g.chr21:31864055C>A ENST00000334063.4 - 1 220 c.221G>T c.(220-222)gGa>gTa p.G74V NM_181609.3 NP_853640.1 Q7Z4W3 KR193_HUMAN keratin associated protein 19-3 74 intermediate filament large_intestine(1)|lung(7)|upper_aerodigestive_tract(1) 9 GAATCCATATCCTCCATAGTA 0.468000 68 145 3.13296e-38 4.9885e-38 0.870114 1 0 OR4A16 81327 broad.mit.edu 37 11 55110944 55110944 + Missense_Mutation SNP A A G TCGA-CV-5441-01A-01D-1512-08 TCGA-CV-5441-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e 79ffab90-e307-45fb-a6ce-0d9aea0b7552 g.chr11:55110944A>G ENST00000314721.2 + 1 318 c.268A>G c.(268-270)Att>Gtt p.I90V NM_001005274.1 NP_001005274.1 Q8NH70 O4A16_HUMAN olfactory receptor, family 4, subfamily A, member 16 90 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 TAAAATCGCTATTTCCTTGTC 0.438000 95 111 0 0 0.870114 0 0 CXorf67 340602 broad.mit.edu 37 X 51151314 51151314 + Silent SNP T T A TCGA-CV-5441-01A-01D-1512-08 TCGA-CV-5441-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e 79ffab90-e307-45fb-a6ce-0d9aea0b7552 g.chrX:51151314T>A ENST00000342995.2 + 1 1548 c.1446T>A c.(1444-1446)ccT>ccA p.P482P chromosome X open reading frame 67 breast(1)|endometrium(4)|large_intestine(1)|lung(11)|ovary(3)|prostate(1) 21 CTCTGAGCCCTGTCCCTCCAG 0.537000 36 25 0 0 0.779181 0 0 ADAMTS5 11096 broad.mit.edu 37 21 28306893 28306893 + Missense_Mutation SNP C C A TCGA-CV-5441-01A-01D-1512-08 TCGA-CV-5441-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e 79ffab90-e307-45fb-a6ce-0d9aea0b7552 g.chr21:28306893C>A ENST00000284987.5 - 4 1702 c.1581G>T c.(1579-1581)atG>atT p.M527I AP001601.2_ENST00000426771.1_RNA NM_007038.3 NP_008969.2 Q9UNA0 ATS5_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 5 527 Disintegrin. 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 TCAGACAGACCATCTGGCCCT 0.572000 35 73 1.26612e-14 1.61279e-14 0.779181 1 0 GPR37 2861 broad.mit.edu 37 7 124387211 124387211 + Missense_Mutation SNP T T A TCGA-CV-5441-01A-01D-1512-08 TCGA-CV-5441-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e 79ffab90-e307-45fb-a6ce-0d9aea0b7552 g.chr7:124387211T>A ENST00000303921.2 - 2 1860 c.1210A>T c.(1210-1212)Agc>Tgc p.S404C NM_005302.2 NP_005293.1 O15354 GPR37_HUMAN G protein-coupled receptor 37 (endothelin receptor type B-like) 404 endoplasmic reticulum membrane|integral to plasma membrane G-protein coupled receptor activity breast(2)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(11)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 TCCTCCTTGCTCAGCTGGCGG 0.473000 44 104 0 0 0.864702 0 0 SETD2 29072 broad.mit.edu 37 3 47147518 47147518 + Missense_Mutation SNP T T C TCGA-CV-5441-01A-01D-1512-08 TCGA-CV-5441-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e 79ffab90-e307-45fb-a6ce-0d9aea0b7552 g.chr3:47147518T>C ENST00000409792.3 - 6 4850 c.4808A>G c.(4807-4809)cAt>cGt p.H1603R NM_014159.6 NP_054878.5 Q9BYW2 SETD2_HUMAN SET domain containing 2 1603 SET. regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nucleus DNA binding|histone-lysine N-methyltransferase activity|oxidoreductase activity|transition metal ion binding breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5) 141 Acute lymphoblastic leukemia(5;0.0169) BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844) GAAATAGTAATGGATGTTTTT 0.398000 """N, F, S, Mis""" clear cell renal carcinoma 43 142 0 0 0.853193 0 0 NCKAP1L 3071 broad.mit.edu 37 12 54913116 54913116 + Splice_Site SNP G G T TCGA-CV-5441-01A-01D-1512-08 TCGA-CV-5441-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e 79ffab90-e307-45fb-a6ce-0d9aea0b7552 g.chr12:54913116G>T ENST00000293373.6 + 16 1704 c.1625_splice c.e16+1 p.C542_splice NCKAP1L_ENST00000545638.2_Splice_Site_p.C492_splice NM_005337.4 NP_005328.2 P55160 NCKPL_HUMAN NCK-associated protein 1-like 542 actin polymerization-dependent cell motility|B cell homeostasis|B cell receptor signaling pathway|cortical actin cytoskeleton organization|erythrocyte development|maintenance of cell polarity|myeloid cell homeostasis|negative regulation of apoptosis|negative regulation of interleukin-17 production|negative regulation of interleukin-6 production|negative regulation of myosin-light-chain-phosphatase activity|neutrophil chemotaxis|positive regulation of actin filament polymerization|positive regulation of B cell differentiation|positive regulation of B cell proliferation|positive regulation of CD4-positive, alpha-beta T cell differentiation|positive regulation of CD8-positive, alpha-beta T cell differentiation|positive regulation of cell adhesion mediated by integrin|positive regulation of erythrocyte differentiation|positive regulation of gamma-delta T cell differentiation|positive regulation of neutrophil chemotaxis|positive regulation of phagocytosis, engulfment|positive regulation of T cell proliferation|protein complex assembly|response to drug|T cell homeostasis cytosol|integral to plasma membrane|membrane fraction|SCAR complex protein complex binding|protein kinase activator activity|Rac GTPase activator activity NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(37)|ovary(3)|prostate(3)|skin(3)|stomach(2) 80 TCTACTTTCTGGTATGTCTTG 0.368000 49 104 1.5774e-09 1.85474e-09 0.870114 1 0 CSHL1 1444 broad.mit.edu 37 17 61987391 61987391 + Missense_Mutation SNP G G C TCGA-CV-5441-01A-01D-1512-08 TCGA-CV-5441-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e 79ffab90-e307-45fb-a6ce-0d9aea0b7552 g.chr17:61987391G>C ENST00000450719.3 - 3 557 c.320C>G c.(319-321)cCc>cGc p.P107R CSHL1_ENST00000259003.10_Intron|CSHL1_ENST00000346606.6_Intron|CSHL1_ENST00000561003.1_Missense_Mutation_p.P118R|CSHL1_ENST00000438387.2_Intron|CSHL1_ENST00000392824.4_3'UTR|CSHL1_ENST00000309894.5_Intron|CSHL1_ENST00000558099.1_5'UTR Q14406 CSHL_HUMAN chorionic somatomammotropin hormone-like 1 0 extracellular region hormone activity|metal ion binding endometrium(3)|lung(6) 9 ATTCACGAGGGGAAATGAAGA 0.547000 48 112 0 0 0.870114 0 0 CDHR3 222256 broad.mit.edu 37 7 105603804 105603804 + Missense_Mutation SNP A A G TCGA-CV-5441-01A-01D-1512-08 TCGA-CV-5441-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e 79ffab90-e307-45fb-a6ce-0d9aea0b7552 g.chr7:105603804A>G ENST00000542731.1 + 1 148 c.40A>G c.(40-42)Atg>Gtg p.M14V CDHR3_ENST00000478080.1_5'UTR|CDHR3_ENST00000541203.1_Missense_Mutation_p.M14V|CDHR3_ENST00000317716.9_Missense_Mutation_p.M14V|CDHR3_ENST00000470188.1_Intron|CDHR3_ENST00000343407.5_5'UTR Q6ZTQ4 CDHR3_HUMAN cadherin-related family member 3 14 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 CCTGGGTGCCATGTCAGGTAG 0.488000 85 163 0 0 0.870114 0 0 AMIGO3 386724 broad.mit.edu 37 3 49755534 49755534 + Silent SNP G G A TCGA-CV-5441-01A-01D-1512-08 TCGA-CV-5441-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e 79ffab90-e307-45fb-a6ce-0d9aea0b7552 g.chr3:49755534G>A ENST00000535833.1 - 10 4815 c.1365C>T c.(1363-1365)gtC>gtT p.V455V GMPPB_ENST00000480687.1_3'UTR|AMIGO3_ENST00000320431.7_Silent_p.V455V|RNF123_ENST00000433785.1_Intron|RNF123_ENST00000327697.6_Intron Q86WK7 AMGO3_HUMAN adhesion molecule with Ig-like domain 3 455 heterophilic cell-cell adhesion integral to membrane endometrium(1)|pancreas(1)|prostate(2)|urinary_tract(1) 5 BRCA - Breast invasive adenocarcinoma(193;4.47e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244) GCTCCAGAAAGACTACGTGCT 0.637000 39 75 0 0 0.870114 0 0 HIST1H3J 8356 broad.mit.edu 37 6 27858380 27858380 + Missense_Mutation SNP C C T TCGA-CV-5441-01A-01D-1512-08 TCGA-CV-5441-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e 79ffab90-e307-45fb-a6ce-0d9aea0b7552 g.chr6:27858380C>T ENST00000359303.2 - 1 190 c.191G>A c.(190-192)cGc>cAc p.R64H NM_003535.2 NP_003526.1 P68431 H31_HUMAN histone cluster 1, H3j 64 blood coagulation|nucleosome assembly|regulation of gene silencing|S phase nucleoplasm|nucleosome DNA binding|protein binding central_nervous_system(1)|endometrium(1)|kidney(1)|lung(3)|ovary(1)|prostate(1) 8 TGGCAGTTTGCGGATGAGCAG 0.607000 6 96 0 0 0.217242 0 0 DHRS11 79154 broad.mit.edu 37 17 34951428 34951428 + Missense_Mutation SNP G G T TCGA-CV-5441-01A-01D-1512-08 TCGA-CV-5441-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e 79ffab90-e307-45fb-a6ce-0d9aea0b7552 g.chr17:34951428G>T ENST00000251312.5 + 2 387 c.175G>T c.(175-177)Ggc>Tgc p.G59C DHRS11_ENST00000590554.1_5'UTR|DHRS11_ENST00000394445.1_3'UTR NM_024308.3 NP_077284.2 Q6UWP2 DHR11_HUMAN dehydrogenase/reductase (SDR family) member 11 59 extracellular region binding|oxidoreductase activity endometrium(1)|lung(4) 5 TAAGAGTGCAGGCTACCCCGG 0.557000 4 65 0.00024832 0.000264644 0.150653 1 0 KANK1 23189 broad.mit.edu 37 9 713363 713363 + Missense_Mutation SNP T T C TCGA-CV-5441-01A-01D-1512-08 TCGA-CV-5441-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e 79ffab90-e307-45fb-a6ce-0d9aea0b7552 g.chr9:713363T>C ENST00000382303.1 + 7 3249 c.2597T>C c.(2596-2598)cTc>cCc p.L866P KANK1_ENST00000382293.3_Missense_Mutation_p.L708P|KANK1_ENST00000489369.1_3'UTR|KANK1_ENST00000382297.2_Missense_Mutation_p.L866P NM_001256876.1 NP_001243805.1 Q14678 KANK1_HUMAN KN motif and ankyrin repeat domains 1 866 negative regulation of actin filament polymerization cytoplasm autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|stomach(4)|upper_aerodigestive_tract(1) 43 Lung NSC(10;9.84e-12)|all_lung(10;1.02e-11)|Breast(48;0.128) Epithelial(6;0.000153)|OV - Ovarian serous cystadenocarcinoma(1;0.000358)|Lung(218;0.0222) AACTCTCAGCTCATCAGCACC 0.512000 91 94 0 0 0.870114 0 0 AREL1 9870 broad.mit.edu 37 14 75150018 75150018 + Silent SNP G G A TCGA-CV-5441-01A-01D-1512-08 TCGA-CV-5441-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e 79ffab90-e307-45fb-a6ce-0d9aea0b7552 g.chr14:75150018G>A ENST00000356357.4 - 5 977 c.462C>T c.(460-462)taC>taT p.Y154Y AREL1_ENST00000557401.1_5'UTR NM_001039479.1 NP_001034568.1 apoptosis resistant E3 ubiquitin protein ligase 1 p.Y154*(1) AAATTTTGTAGTAGGGACTAT 0.403000 30 78 0 0 0.740014 0 0 GPR155 151556 broad.mit.edu 37 2 175333771 175333771 + Missense_Mutation SNP T T C TCGA-CV-5441-01A-01D-1512-08 TCGA-CV-5441-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e 79ffab90-e307-45fb-a6ce-0d9aea0b7552 g.chr2:175333771T>C ENST00000392552.2 - 5 1289 c.1051A>G c.(1051-1053)Aca>Gca p.T351A GPR155_ENST00000392551.2_Missense_Mutation_p.T351A|GPR155_ENST00000295500.4_Missense_Mutation_p.T351A NM_001267051.1|NM_152529.6 NP_001253980.1|NP_689742.4 Q7Z3F1 GP155_HUMAN G protein-coupled receptor 155 351 intracellular signal transduction|transmembrane transport integral to membrane breast(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(2) 26 GACACAAATGTGCTTATCACC 0.398000 28 79 0 0 0.729181 0 0 CLCN2 1181 broad.mit.edu 37 3 184076565 184076565 + Missense_Mutation SNP C C T TCGA-CV-5441-01A-01D-1512-08 TCGA-CV-5441-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e 79ffab90-e307-45fb-a6ce-0d9aea0b7552 g.chr3:184076565C>T ENST00000265593.4 - 3 428 c.257G>A c.(256-258)aGg>aAg p.R86K CLCN2_ENST00000344937.7_Missense_Mutation_p.R86K|CLCN2_ENST00000457512.1_Missense_Mutation_p.R86K|EIF2B5_ENST00000444495.1_Intron|CLCN2_ENST00000423355.2_5'UTR|CLCN2_ENST00000434054.2_Intron NM_004366.5 NP_004357.3 P51788 CLCN2_HUMAN chloride channel, voltage-sensitive 2 86 chloride channel complex voltage-gated chloride channel activity breast(2)|central_nervous_system(4)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 27 all_cancers(143;6.66e-11)|Ovarian(172;0.0339) Epithelial(37;2.22e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22) Lubiprostone(DB01046) TTCACCAACCCTGGATACTAG 0.557000 3 15 0 0 0.248553 0 0 TGM3 7053 broad.mit.edu 37 20 2308958 2308958 + Missense_Mutation SNP C C T TCGA-CV-5441-01A-01D-1512-08 TCGA-CV-5441-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e 79ffab90-e307-45fb-a6ce-0d9aea0b7552 g.chr20:2308958C>T ENST00000381458.5 + 9 1343 c.1280C>T c.(1279-1281)gCg>gTg p.A427V NM_003245.3 NP_003236.3 Q08188 TGM3_HUMAN transglutaminase 3 427 cell envelope organization|hair follicle morphogenesis|keratinization|peptide cross-linking|protein tetramerization cytoplasm|extrinsic to internal side of plasma membrane acyltransferase activity|calcium ion binding|GDP binding|GTP binding|GTPase activity|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) AGCACCAAGGCGGTGGGCAGC 0.572000 19 48 0 0 0.539581 0 0 MDGA2 161357 broad.mit.edu 37 14 47530772 47530772 + Missense_Mutation SNP T T A TCGA-CV-5441-01A-01D-1512-08 TCGA-CV-5441-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e 79ffab90-e307-45fb-a6ce-0d9aea0b7552 g.chr14:47530772T>A ENST00000426342.1 - 7 1057 c.311A>T c.(310-312)aAa>aTa p.K104I MDGA2_ENST00000439988.2_Missense_Mutation_p.K333I|MDGA2_ENST00000399232.2_Missense_Mutation_p.K402I|MDGA2_ENST00000357362.3_Missense_Mutation_p.K104I NM_182830.3 NP_878250.2 Q7Z553 MDGA2_HUMAN MAM domain containing glycosylphosphatidylinositol anchor 2 333 Ig-like 1. spinal cord motor neuron differentiation anchored to membrane|plasma membrane breast(3)|endometrium(4)|kidney(2)|large_intestine(14)|lung(41)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(5) 76 AAATCGTCCTTTTTTTAATGC 0.348000 12 35 0 0 0.411799 0 0 KIDINS220 57498 broad.mit.edu 37 2 8871438 8871438 + Silent SNP C C G TCGA-CV-5441-01A-01D-1512-08 TCGA-CV-5441-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e 79ffab90-e307-45fb-a6ce-0d9aea0b7552 g.chr2:8871438C>G ENST00000256707.3 - 30 4909 c.4728G>C c.(4726-4728)gcG>gcC p.A1576A KIDINS220_ENST00000418530.1_Silent_p.A1477A|KIDINS220_ENST00000427284.1_Silent_p.A1557A|KIDINS220_ENST00000473731.1_Silent_p.A1557A NM_020738.2 NP_065789.1 Q9ULH0 KDIS_HUMAN kinase D-interacting substrate, 220kDa 1576 activation of MAPKK activity|nerve growth factor receptor signaling pathway cytosol|integral to membrane NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(25)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 60 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) TGTCAAGGAGCGCATCCGATA 0.478000 40 89 0 0 0.834066 0 0 ADCY2 108 broad.mit.edu 37 5 7757586 7757586 + Missense_Mutation SNP C C G TCGA-CV-5441-01A-01D-1512-08 TCGA-CV-5441-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e 79ffab90-e307-45fb-a6ce-0d9aea0b7552 g.chr5:7757586C>G ENST00000338316.4 + 16 2070 c.1981C>G c.(1981-1983)Ctg>Gtg p.L661V ADCY2_ENST00000537121.1_Missense_Mutation_p.L481V NM_020546.2 NP_065433.2 Q08462 ADCY2_HUMAN adenylate cyclase 2 (brain) 661 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 AGCCTCTCCCCTGCTCATGTG 0.473000 57 184 0 0 0.870114 0 0 ACACA 31 broad.mit.edu 37 17 35549233 35549233 + Missense_Mutation SNP C C T TCGA-CV-5441-01A-01D-1512-08 TCGA-CV-5441-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e 79ffab90-e307-45fb-a6ce-0d9aea0b7552 g.chr17:35549233C>T ENST00000353139.5 - 37 4695 c.4214G>A c.(4213-4215)cGt>cAt p.R1405H ACACA_ENST00000335166.5_Missense_Mutation_p.R1290H|ACACA_ENST00000394406.2_Missense_Mutation_p.R1368H|ACACA_ENST00000360679.3_Missense_Mutation_p.R1310H NM_198834.1|NM_198839.1 NP_942131.1|NP_942136.1 Q13085 ACACA_HUMAN acetyl-CoA carboxylase alpha 1368 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 acetyl-CoA carboxylase activity|ATP binding|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) ACGATAGATACGATCCTCCTC 0.408000 22 39 0 0 0.608945 0 0 C8B 732 broad.mit.edu 37 1 57420448 57420448 + Missense_Mutation SNP G G C rs151302643 byFrequency TCGA-CV-5441-01A-01D-1512-08 TCGA-CV-5441-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e 79ffab90-e307-45fb-a6ce-0d9aea0b7552 g.chr1:57420448G>C ENST00000543257.1 - 5 854 c.288C>G c.(286-288)gaC>gaG p.D96E C8B_ENST00000535057.1_Missense_Mutation_p.D86E|C8B_ENST00000371237.4_Missense_Mutation_p.D148E NM_001278543.1 NP_001265472.1 P07358 CO8B_HUMAN complement component 8, beta polypeptide 148 TSP type-1 1. complement activation, alternative pathway|complement activation, classical pathway|cytolysis membrane attack complex breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1) 52 CATCTGACTGGTCTCCACAGT 0.448000 39 98 0 0 0.819951 0 0 SGIP1 84251 broad.mit.edu 37 1 67099824 67099824 + Missense_Mutation SNP C C A TCGA-CV-5441-01A-01D-1512-08 TCGA-CV-5441-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e 79ffab90-e307-45fb-a6ce-0d9aea0b7552 g.chr1:67099824C>A ENST00000237247.6 + 5 299 c.161C>A c.(160-162)gCc>gAc p.A54D SGIP1_ENST00000371035.3_Intron|SGIP1_ENST00000371036.3_Intron|SGIP1_ENST00000371037.4_Intron|SGIP1_ENST00000371039.1_Intron|SGIP1_ENST00000468286.1_Intron Q9BQI5 SGIP1_HUMAN SH3-domain GRB2-like (endophilin) interacting protein 1 51 positive regulation of energy homeostasis|positive regulation of feeding behavior|positive regulation of receptor-mediated endocytosis|response to dietary excess AP-2 adaptor complex microtubule binding|phospholipid binding|SH3 domain 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 TGGCTCAGAGCCCTCTCGTTA 0.507000 5 20 0.000602214 0.000635473 0.184627 1 0 RLIM 51132 broad.mit.edu 37 X 73811532 73811532 + Missense_Mutation SNP C C T TCGA-CV-5441-01A-01D-1512-08 TCGA-CV-5441-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e 79ffab90-e307-45fb-a6ce-0d9aea0b7552 g.chrX:73811532C>T ENST00000332687.6 - 4 1836 c.1618G>A c.(1618-1620)Gat>Aat p.D540N RLIM_ENST00000349225.2_Missense_Mutation_p.D540N NM_016120.3 NP_057204.2 Q9NVW2 RNF12_HUMAN ring finger protein, LIM domain interacting 540 random inactivation of X chromosome|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process cytoplasm|transcriptional repressor complex transcription corepressor activity|ubiquitin-protein ligase activity|zinc ion binding breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 30 TCATCATCATCCTCATTTAAG 0.453000 16 11 0 0 0.479597 0 0 SYNE1 23345 broad.mit.edu 37 6 152690250 152690250 + Missense_Mutation SNP C C G TCGA-CV-5441-01A-01D-1512-08 TCGA-CV-5441-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e 79ffab90-e307-45fb-a6ce-0d9aea0b7552 g.chr6:152690250C>G ENST00000367255.5 - 61 10265 c.9664G>C c.(9664-9666)Gaa>Caa p.E3222Q SYNE1_ENST00000423061.1_Missense_Mutation_p.E3229Q|SYNE1_ENST00000448038.1_Missense_Mutation_p.E3229Q|SYNE1_ENST00000341594.5_Missense_Mutation_p.E3261Q|SYNE1_ENST00000265368.4_Missense_Mutation_p.E3222Q NM_182961.3 NP_892006.3 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 3222 cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex 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) CAGTGTATTTCCTCAAGGACA 0.502000 HNSCC(10;0.0054) 4 93 0 0 0.150653 0 0 SLCO1A2 6579 broad.mit.edu 37 12 21472443 21472443 + Translation_Start_Site SNP C C A TCGA-CV-5441-01A-01D-1512-08 TCGA-CV-5441-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e 79ffab90-e307-45fb-a6ce-0d9aea0b7552 g.chr12:21472443C>A ENST00000390670.3 - 0 154 SLCO1A2_ENST00000473830.1_Intron|SLCO1A2_ENST00000307378.6_Intron|SLCO1A2_ENST00000537524.1_Intron|SLCO1A2_ENST00000452078.1_Intron|SLCO1A2_ENST00000458504.1_Intron P46721 SO1A2_HUMAN solute carrier organic anion transporter family, member 1A2 bile acid metabolic process|sodium-independent organic anion transport integral to membrane|plasma membrane bile acid transmembrane transporter activity|organic anion transmembrane transporter activity breast(2)|endometrium(2)|kidney(4)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(6)|upper_aerodigestive_tract(1) 48 ctctgcaacccttgagctcag 0.438000 9 25 0.000274275 0.000290569 0.307466 1 0 PCDHB13 56123 broad.mit.edu 37 5 140595270 140595270 + Missense_Mutation SNP G G T TCGA-CV-5441-01A-01D-1512-08 TCGA-CV-5441-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e 79ffab90-e307-45fb-a6ce-0d9aea0b7552 g.chr5:140595270G>T ENST00000341948.4 + 1 1762 c.1575G>T c.(1573-1575)caG>caT p.Q525H NM_018933.2 NP_061756.1 Q9Y5F0 PCDBD_HUMAN 525 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) AGGCCCTGCAGGGGTTCCAGT 0.692000 62 53 5.00936e-31 7.61365e-31 0.870114 1 0 MKLN1 4289 broad.mit.edu 37 7 131128284 131128284 + Silent SNP T T C TCGA-CV-5441-01A-01D-1512-08 TCGA-CV-5441-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e 79ffab90-e307-45fb-a6ce-0d9aea0b7552 g.chr7:131128284T>C ENST00000352689.6 + 11 1258 c.1218T>C c.(1216-1218)ggT>ggC p.G406G MKLN1_ENST00000421797.2_Silent_p.G314G NM_013255.4 NP_037387.2 Q9UL63 MKLN1_HUMAN muskelin 1, intracellular mediator containing kelch motifs 406 signal transduction cytoplasm protein binding 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) CTTTTGGTGGTAGAATTTTGA 0.393000 5 120 0 0 0.248553 0 0 MED14 9282 broad.mit.edu 37 X 40513656 40513656 + Silent SNP G G A TCGA-CV-5441-01A-01D-1512-08 TCGA-CV-5441-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e 79ffab90-e307-45fb-a6ce-0d9aea0b7552 g.chrX:40513656G>A ENST00000324817.1 - 30 4369 c.4251C>T c.(4249-4251)aaC>aaT p.N1417N NM_004229.3 NP_004220.2 O60244 MED14_HUMAN mediator complex subunit 14 1417 androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter mediator complex ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding NS(2)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(7)|lung(8)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 39 TCTTCAGAATGTTGCTGACCA 0.418000 41 18 0 0 0.870114 0 0 OR13J1 392309 broad.mit.edu 37 9 35869982 35869982 + Silent SNP C C G TCGA-CV-5441-01A-01D-1512-08 TCGA-CV-5441-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e 79ffab90-e307-45fb-a6ce-0d9aea0b7552 g.chr9:35869982C>G ENST00000377981.2 - 1 479 c.417G>C c.(415-417)cgG>cgC p.R139R NM_001004487.1 NP_001004487.1 Q8NGT2 O13J1_HUMAN olfactory receptor, family 13, subfamily J, member 1 139 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|large_intestine(1)|lung(3)|skin(1) 6 all_epithelial(49;0.169) LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00494)|STAD - Stomach adenocarcinoma(86;0.194) GCACGCAGAGCCGGTGGCTCA 0.637000 34 68 0 0 0.853193 0 0 GLT1D1 144423 broad.mit.edu 37 12 129360582 129360582 + Silent SNP C C G TCGA-CV-5441-01A-01D-1512-08 TCGA-CV-5441-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e 79ffab90-e307-45fb-a6ce-0d9aea0b7552 g.chr12:129360582C>G ENST00000442111.2 + 2 280 c.192C>G c.(190-192)ctC>ctG p.L64L GLT1D1_ENST00000542193.1_5'UTR|GLT1D1_ENST00000537468.1_Silent_p.L53L|GLT1D1_ENST00000281703.6_Silent_p.L64L Q96MS3 GL1D1_HUMAN glycosyltransferase 1 domain containing 1 64 biosynthetic process extracellular region transferase activity, transferring glycosyl groups breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|urinary_tract(1) 26 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;3.97e-06)|Epithelial(86;3.97e-05)|all cancers(50;0.00019) CTCTTCATCTCTATAGGGGAG 0.448000 82 183 0 0 0.870114 0 0 IQGAP2 10788 broad.mit.edu 37 5 75936852 75936852 + Missense_Mutation SNP G G T TCGA-CV-5441-01A-01D-1512-08 TCGA-CV-5441-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e 79ffab90-e307-45fb-a6ce-0d9aea0b7552 g.chr5:75936852G>T ENST00000274364.6 + 17 2315 c.2018G>T c.(2017-2019)gGa>gTa p.G673V IQGAP2_ENST00000502745.1_Intron|IQGAP2_ENST00000379730.3_Intron|IQGAP2_ENST00000396234.3_Intron NM_006633.2 NP_006624.2 Q13576 IQGA2_HUMAN IQ motif containing GTPase activating protein 2 673 small GTPase mediated signal transduction actin cytoskeleton actin binding|calmodulin binding|GTPase inhibitor activity|Ras GTPase activator activity NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(23)|ovary(6)|prostate(1)|skin(3)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 68 all_lung(232;0.000514)|Lung NSC(167;0.00135)|Prostate(461;0.00838)|Ovarian(174;0.0149) all cancers(79;1.38e-36) ACAAGCTCAGGACCCATCCTT 0.423000 26 52 1.17962e-10 1.41502e-10 0.840704 1 0 IGKV4-1 28908 broad.mit.edu 37 2 89185363 89185363 + RNA SNP C C A TCGA-CV-5441-01A-01D-1512-08 TCGA-CV-5441-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e 79ffab90-e307-45fb-a6ce-0d9aea0b7552 g.chr2:89185363C>A ENST00000390243.2 + 0 232 CAGGTGCCTACGGGGACATCG 0.443000 26 72 1.5548e-18 2.10587e-18 0.693898 1 0 PCDHGA7 56108 broad.mit.edu 37 5 140763189 140763189 + Silent SNP C C T TCGA-CV-5441-01A-01D-1512-08 TCGA-CV-5441-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e 79ffab90-e307-45fb-a6ce-0d9aea0b7552 g.chr5:140763189C>T ENST00000518325.1 + 1 723 c.723C>T c.(721-723)gtC>gtT p.V241V PCDHGA1_ENST00000517417.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA2_ENST00000394576.2_Intron NM_018920.2 NP_061743.1 NS(1)|biliary_tract(1)|endometrium(8)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|skin(1)|stomach(3)|urinary_tract(1) 49 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) ACACGCCTGTCTTCTCTCTGC 0.587000 11 27 0 0 0.435327 0 0 ZNF30 90075 broad.mit.edu 37 19 35435633 35435633 + Missense_Mutation SNP G G A TCGA-CV-5441-01A-01D-1512-08 TCGA-CV-5441-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e 79ffab90-e307-45fb-a6ce-0d9aea0b7552 g.chr19:35435633G>A ENST00000439785.1 + 5 2210 c.1766G>A c.(1765-1767)cGg>cAg p.R589Q ZNF30_ENST00000601957.1_3'UTR|ZNF30_ENST00000601142.1_Missense_Mutation_p.R588Q|ZNF30_ENST00000426813.2_Missense_Mutation_p.R507Q|ZNF30_ENST00000303586.7_Missense_Mutation_p.R589Q NM_001099438.1 NP_001092908.1 P17039 ZNF30_HUMAN zinc finger protein 30 588 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|prostate(2) 16 all_lung(56;8.38e-08)|Lung NSC(56;1.31e-07)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0849) GBM - Glioblastoma multiforme(1328;0.0265) GAACATCAGCGGGTACACACT 0.403000 15 26 0 0 0.500413 0 0 FOXA3 3171 broad.mit.edu 37 19 46376291 46376291 + Missense_Mutation SNP C C T TCGA-CV-5441-01A-01D-1512-08 TCGA-CV-5441-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e 79ffab90-e307-45fb-a6ce-0d9aea0b7552 g.chr19:46376291C>T ENST00000302177.2 + 2 1225 c.1028C>T c.(1027-1029)tCc>tTc p.S343F NM_004497.2 NP_004488.2 P55318 FOXA3_HUMAN forkhead box A3 343 brain development|cellular glucose homeostasis|cellular response to starvation|chromatin modification|embryo development|endocrine pancreas development|negative regulation of cell proliferation|neural plate anterior/posterior regionalization|neuron fate specification|positive regulation of hepatocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|spermatogenesis transcription factor complex DNA bending activity|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|transcription regulatory region DNA binding p.S343Y(1) breast(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(2)|pancreas(1)|prostate(1) 13 Ovarian(192;0.0308)|all_neural(266;0.0476) OV - Ovarian serous cystadenocarcinoma(262;0.00453)|GBM - Glioblastoma multiforme(486;0.0518)|Epithelial(262;0.236) GGCCTCTATTCCCGCTCTTTG 0.582000 10 18 0 0 0.361761 0 0 DOCK10 55619 broad.mit.edu 37 2 225740756 225740756 + Splice_Site SNP C C A TCGA-CV-5441-01A-01D-1512-08 TCGA-CV-5441-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e 79ffab90-e307-45fb-a6ce-0d9aea0b7552 g.chr2:225740756C>A ENST00000409592.3 - 8 1025 c.913_splice c.e8+1 p.L304_splice DOCK10_ENST00000258390.7_Splice_Site_p.L310_splice Q96BY6 DOC10_HUMAN dedicator of cytokinesis 10 310 GTP binding NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(10)|large_intestine(16)|lung(40)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 87 Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14) Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178) TGCTCTCACCCAGACCCAGAT 0.517000 20 87 8.10497e-08 9.36536e-08 0.592651 1 0 CYP4F2 8529 broad.mit.edu 37 19 15989674 15989674 + Silent SNP G G A rs150488576 byFrequency TCGA-CV-5441-01A-01D-1512-08 TCGA-CV-5441-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e 79ffab90-e307-45fb-a6ce-0d9aea0b7552 g.chr19:15989674G>A ENST00000221700.5 - 13 1565 c.1470C>T c.(1468-1470)cgC>cgT p.R490R CYP4F2_ENST00000592328.1_Silent_p.R490R NM_001082.3 NP_001073.3 P78329 CP4F2_HUMAN cytochrome P450, family 4, subfamily F, polypeptide 2 490 leukotriene metabolic process|long-chain fatty acid metabolic process|very long-chain fatty acid metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome alkane 1-monooxygenase activity|electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding|protein binding NS(2)|breast(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 46 CAGGCAGGACGCGGAAGCGCA 0.672000 12 52 0 0 0.435327 0 0 ZMYM3 9203 broad.mit.edu 37 X 70467681 70467681 + Missense_Mutation SNP T T G TCGA-CV-5441-01A-01D-1512-08 TCGA-CV-5441-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e 79ffab90-e307-45fb-a6ce-0d9aea0b7552 g.chrX:70467681T>G ENST00000373998.1 - 12 2748 c.2051A>C c.(2050-2052)cAg>cCg p.Q684P ZMYM3_ENST00000489332.1_5'UTR|ZMYM3_ENST00000373984.3_Missense_Mutation_p.Q686P|ZMYM3_ENST00000373988.1_Missense_Mutation_p.Q686P|ZMYM3_ENST00000353904.2_Missense_Mutation_p.Q684P|ZMYM3_ENST00000314425.5_Missense_Mutation_p.Q684P NM_001171162.1 NP_001164633.1 Q14202 ZMYM3_HUMAN zinc finger, MYM-type 3 684 multicellular organismal development nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(7)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(17)|ovary(1)|prostate(9)|upper_aerodigestive_tract(1)|urinary_tract(1) 64 Renal(35;0.156) CTGGCAGGTCTGGGAGCAGTA 0.532000 19 5 0 0 0.592651 0 0 NDUFA9 4704 broad.mit.edu 37 12 4764024 4764024 + Missense_Mutation SNP G G A TCGA-CV-5441-01A-01D-1512-08 TCGA-CV-5441-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e 79ffab90-e307-45fb-a6ce-0d9aea0b7552 g.chr12:4764024G>A ENST00000266544.5 + 3 274 c.254G>A c.(253-255)cGg>cAg p.R85Q NDUFA9_ENST00000542369.1_3'UTR NM_005002.4 NP_004993.1 Q16795 NDUA9_HUMAN NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 9, 39kDa 85 mitochondrial electron transport, NADH to ubiquinone|sodium ion transport mitochondrial matrix|mitochondrial respiratory chain complex I NADH dehydrogenase (ubiquinone) activity|protein binding p.R85L(2) NS(1)|breast(1)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1) 21 NADH(DB00157) ATACCCTATCGGTGTGATAAA 0.403000 4 82 0 0 0.184627 0 0 CCSER1 401145 broad.mit.edu 37 4 91549260 91549260 + Silent SNP G G T TCGA-CV-5441-01A-01D-1512-08 TCGA-CV-5441-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e 79ffab90-e307-45fb-a6ce-0d9aea0b7552 g.chr4:91549260G>T ENST00000509176.1 + 6 2097 c.1809G>T c.(1807-1809)gcG>gcT p.A603A CCSER1_ENST00000432775.2_Silent_p.A603A|CCSER1_ENST00000333691.8_Silent_p.A603A NM_001145065.1 NP_001138537.1 coiled-coil serine-rich protein 1 GTCCATCTGCGGATTGGCCTC 0.443000 57 39 1.53582e-20 2.17372e-20 0.870114 1 0 NYNRIN 57523 broad.mit.edu 37 14 24884816 24884816 + Silent SNP C C G TCGA-CV-5441-01A-01D-1512-08 TCGA-CV-5441-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e 79ffab90-e307-45fb-a6ce-0d9aea0b7552 g.chr14:24884816C>G ENST00000382554.3 + 9 4179 c.3861C>G c.(3859-3861)ccC>ccG p.P1287P NM_025081.2 NP_079357.2 Q9P2P1 NYNRI_HUMAN NYN domain and retroviral integrase containing 1287 DNA integration integral to membrane DNA binding p.P1287P(1) 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 TGCTCACCCCCGCGGCCTCCA 0.622000 38 89 0 0 0.788014 0 0 OGDHL 55753 broad.mit.edu 37 10 50946031 50946031 + Missense_Mutation SNP C C A TCGA-CV-5441-01A-01D-1512-08 TCGA-CV-5441-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e 79ffab90-e307-45fb-a6ce-0d9aea0b7552 g.chr10:50946031C>A ENST00000374103.4 - 19 2564 c.2479G>T c.(2479-2481)Gtg>Ttg p.V827L OGDHL_ENST00000419399.1_Missense_Mutation_p.V770L|OGDHL_ENST00000490844.1_5'UTR|OGDHL_ENST00000432695.1_Missense_Mutation_p.V618L NM_018245.2 NP_060715.2 Q9ULD0 OGDHL_HUMAN oxoglutarate dehydrogenase-like 827 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 CGGCGCAGCACGTGGAAGTAG 0.652000 70 169 1.79293e-35 2.82123e-35 0.870114 1 0 OR2M4 26245 broad.mit.edu 37 1 248402915 248402915 + Missense_Mutation SNP G G A TCGA-CV-5441-01A-01D-1512-08 TCGA-CV-5441-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e 79ffab90-e307-45fb-a6ce-0d9aea0b7552 g.chr1:248402915G>A ENST00000306687.1 + 1 685 c.685G>A c.(685-687)Ggc>Agc p.G229S NM_017504.1 NP_059974.1 Q96R27 OR2M4_HUMAN olfactory receptor, family 2, subfamily M, member 4 229 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(27)|skin(3)|upper_aerodigestive_tract(2) 50 all_cancers(71;0.000124)|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;0.0245) CATCCACATGGGCTCTGGGGA 0.483000 24 33 0 0 0.717897 0 0 ERC2 26059 broad.mit.edu 37 3 56330328 56330328 + Missense_Mutation SNP G G A TCGA-CV-5441-01A-01D-1512-08 TCGA-CV-5441-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e 79ffab90-e307-45fb-a6ce-0d9aea0b7552 g.chr3:56330328G>A ENST00000288221.6 - 3 1048 c.793C>T c.(793-795)Cgg>Tgg p.R265W NM_015576.1 NP_056391.1 O15083 ERC2_HUMAN ELKS/RAB6-interacting/CAST family member 2 265 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) GCTTGGAGCCGCCTAAAGTTC 0.542000 57 141 0 0 0.870114 0 0 CNR1 1268 broad.mit.edu 37 6 88854007 88854007 + Silent SNP C C T TCGA-CV-5441-01A-01D-1512-08 TCGA-CV-5441-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e 79ffab90-e307-45fb-a6ce-0d9aea0b7552 g.chr6:88854007C>T ENST00000537554.1 - 2 4549 c.987G>A c.(985-987)gtG>gtA p.V329V CNR1_ENST00000428600.2_Silent_p.V329V|CNR1_ENST00000369501.2_Silent_p.V329V|CNR1_ENST00000369499.2_Silent_p.V329V|CNR1_ENST00000535130.1_Silent_p.V329V|CNR1_ENST00000468898.1_Silent_p.V296V|CNR1_ENST00000549890.1_Silent_p.V329V|CNR1_ENST00000549716.1_Silent_p.V268V|CNR1_ENST00000362094.5_3'UTR NM_001160226.1|NM_001160258.1 NP_001153698.1|NP_001153730.1 P21554 CNR1_HUMAN cannabinoid receptor 1 (brain) 329 G-protein signaling, coupled to cAMP nucleotide second messenger integral to plasma membrane cannabinoid receptor activity|protein binding breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|prostate(1)|skin(10)|urinary_tract(1) 37 all_cancers(76;8.24e-09)|Acute lymphoblastic leukemia(125;2.15e-10)|Prostate(29;4.11e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;0.00011) BRCA - Breast invasive adenocarcinoma(108;0.15) Marinol(DB00470)|Nabilone(DB00486)|Rimonabant(DB06155) CTGGCCGGGTCACCTGTACCT 0.567000 53 68 0 0 0.870114 0 0 GPATCH8 23131 broad.mit.edu 37 17 42513913 42513913 + Splice_Site SNP C C A TCGA-CV-5441-01A-01D-1512-08 TCGA-CV-5441-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e 79ffab90-e307-45fb-a6ce-0d9aea0b7552 g.chr17:42513913C>A ENST00000591680.1 - 4 224 c.193_splice c.e4-1 p.G65_splice GPATCH8_ENST00000586265.1_5'UTR|GPATCH8_ENST00000434000.1_5'UTR NM_001002909.2 NP_001002909.1 Q9UKJ3 GPTC8_HUMAN G patch domain containing 8 65 G-patch. 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) ATCTGTTCTCCCTGTAACAGG 0.428000 28 73 5.77227e-19 7.89812e-19 0.729181 1 0 YY1AP1 55249 broad.mit.edu 37 1 155629663 155629663 + Missense_Mutation SNP C C A TCGA-CV-5441-01A-01D-1512-08 TCGA-CV-5441-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e 79ffab90-e307-45fb-a6ce-0d9aea0b7552 g.chr1:155629663C>A ENST00000368340.5 - 10 2500 c.2392G>T c.(2392-2394)Ggg>Tgg p.G798W YY1AP1_ENST00000368330.2_Missense_Mutation_p.G680W|YY1AP1_ENST00000361831.5_Missense_Mutation_p.G669W|YY1AP1_ENST00000295566.4_Missense_Mutation_p.G726W|YY1AP1_ENST00000359205.5_Missense_Mutation_p.G669W|MSTO1_ENST00000538143.1_Intron|YY1AP1_ENST00000355499.4_Missense_Mutation_p.G680W|YY1AP1_ENST00000311573.5_Missense_Mutation_p.G649W|MSTO1_ENST00000452804.2_Intron|YY1AP1_ENST00000368339.5_Missense_Mutation_p.G818W|YY1AP1_ENST00000347088.5_Missense_Mutation_p.G680W|YY1AP1_ENST00000404643.1_Missense_Mutation_p.G660W|YY1AP1_ENST00000535662.1_Missense_Mutation_p.G526W|YY1AP1_ENST00000407221.1_Missense_Mutation_p.G649W NM_001198904.1 NP_001185833.1 YY1 associated protein 1 central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(7)|ovary(2)|skin(2)|urinary_tract(2) 31 Hepatocellular(266;0.0997)|all_hematologic(923;0.145) GGTGGAGGCCCTGGGCTATGT 0.512000 19 83 1.50039e-11 1.83686e-11 0.608945 1 0 SLC35F1 222553 broad.mit.edu 37 6 118635271 118635271 + Silent SNP C C A TCGA-CV-5441-01A-01D-1512-08 TCGA-CV-5441-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e 79ffab90-e307-45fb-a6ce-0d9aea0b7552 g.chr6:118635271C>A ENST00000360388.4 + 8 1284 c.1083C>A c.(1081-1083)gcC>gcA p.A361A NM_001029858.3 NP_001025029.2 Q5T1Q4 S35F1_HUMAN solute carrier family 35, member F1 361 transport integral to membrane breast(3)|kidney(1)|large_intestine(7)|lung(21)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 36 GBM - Glioblastoma multiforme(226;0.217) CCTACATAGCCCAGGACCCCC 0.507000 48 262 6.3008e-33 9.77081e-33 0.870114 1 0 ACSM2A 123876 broad.mit.edu 37 16 20487096 20487096 + Splice_Site SNP G G T TCGA-CV-5441-01A-01D-1512-08 TCGA-CV-5441-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e 79ffab90-e307-45fb-a6ce-0d9aea0b7552 g.chr16:20487096G>T ENST00000573854.1 + 8 1212 c.e8+1 ACSM2A_ENST00000536134.1_Splice_Site|ACSM2A_ENST00000575558.1_Splice_Site|ACSM2A_ENST00000417235.2_Splice_Site|ACSM2A_ENST00000575690.1_Splice_Site|ACSM2A_ENST00000396104.2_Splice_Site|ACSM2A_ENST00000219054.6_Splice_Site NM_001010845.2 NP_001010845.1 Q08AH3 ACS2A_HUMAN acyl-CoA synthetase medium-chain family member 2A 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 GACAGAAACGGTACCTGTTCC 0.483000 95 233 2.24395e-52 3.73992e-52 0.870114 1 0 MAGEB2 4113 broad.mit.edu 37 X 30237175 30237175 + Missense_Mutation SNP C C A TCGA-CV-5441-01A-01D-1512-08 TCGA-CV-5441-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e 79ffab90-e307-45fb-a6ce-0d9aea0b7552 g.chrX:30237175C>A ENST00000378988.4 + 2 579 c.478C>A c.(478-480)Ctc>Atc p.L160I NM_002364.4 NP_002355.2 O15479 MAGB2_HUMAN melanoma antigen family B, 2 160 MAGE. protein binding breast(1)|large_intestine(3)|lung(17)|ovary(1)|skin(1) 23 CTCTGAGGGCCTCAGTGTTGT 0.463000 14 6 9.31168e-06 1.03571e-05 0.435327 1 0 THSD7A 221981 broad.mit.edu 37 7 11675973 11675973 + Missense_Mutation SNP C C A TCGA-CV-5441-01A-01D-1512-08 TCGA-CV-5441-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e 79ffab90-e307-45fb-a6ce-0d9aea0b7552 g.chr7:11675973C>A ENST00000423059.3 - 2 1057 c.806G>T c.(805-807)cGa>cTa p.R269L NM_015204.2 NP_056019.1 Q9UPZ6 THS7A_HUMAN thrombospondin, type I, domain containing 7A 269 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) TCTTACTTGTCGGGAGTGGGG 0.557000 HNSCC(18;0.044) 52 104 2.73381e-35 4.28911e-35 0.870114 1 0 SH2D1A 4068 broad.mit.edu 37 X 123504071 123504071 + Missense_Mutation SNP C C A TCGA-CV-5441-01A-01D-1512-08 TCGA-CV-5441-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e 79ffab90-e307-45fb-a6ce-0d9aea0b7552 g.chrX:123504071C>A ENST00000371139.4 + 3 546 c.247C>A c.(247-249)Ctc>Atc p.L83I STAG2_ENST00000469481.1_Intron|SH2D1A_ENST00000470647.1_3'UTR|SH2D1A_ENST00000360027.4_Missense_Mutation_p.L83I NM_001114937.2|NM_002351.4 NP_001108409.1|NP_002342.1 O60880 SH21A_HUMAN SH2 domain containing 1A 83 SH2. cell-cell signaling|cellular defense response cytoplasm SH3/SH2 adaptor activity p.L83V(1) haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 10 AATAAAAAATCTCATTTCAGC 0.373000 66 34 2.17656e-39 3.5074e-39 0.870114 1 0 CNTNAP5 129684 broad.mit.edu 37 2 125284996 125284996 + Missense_Mutation SNP A A G TCGA-CV-5441-01A-01D-1512-08 TCGA-CV-5441-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e 79ffab90-e307-45fb-a6ce-0d9aea0b7552 g.chr2:125284996A>G ENST00000431078.1 + 10 1973 c.1609A>G c.(1609-1611)Agt>Ggt p.S537G NM_130773.2 NP_570129.1 Q8WYK1 CNTP5_HUMAN contactin associated protein-like 5 537 Laminin G-like 2. cell adhesion|signal transduction integral to membrane receptor binding NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3) 176 BRCA - Breast invasive adenocarcinoma(221;0.248) GGGGAATTTTAGTGATTTACA 0.423000 48 88 0 0 0.870114 0 0 CHD2 1106 broad.mit.edu 37 15 93528831 93528831 + Missense_Mutation SNP C C T TCGA-CV-5441-01A-01D-1512-08 TCGA-CV-5441-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e 79ffab90-e307-45fb-a6ce-0d9aea0b7552 g.chr15:93528831C>T ENST00000394196.4 + 26 4409 c.3341C>T c.(3340-3342)cCa>cTa p.P1114L CHD2_ENST00000557381.1_Missense_Mutation_p.P1114L NM_001271.3 NP_001262.3 O14647 CHD2_HUMAN chromodomain helicase DNA binding protein 2 1114 regulation of transcription from RNA polymerase II promoter nucleus ATP binding|ATP-dependent DNA helicase activity|DNA binding breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2) 47 Lung NSC(78;0.00976)|all_lung(78;0.016) BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814) GACAAGAAGCCAAAGCGCAGA 0.537000 26 93 0 0 0.706142 0 0 GHITM 27069 broad.mit.edu 37 10 85901368 85901368 + Silent SNP C C T TCGA-CV-5441-01A-01D-1512-08 TCGA-CV-5441-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e 79ffab90-e307-45fb-a6ce-0d9aea0b7552 g.chr10:85901368C>T ENST00000372134.3 + 2 305 c.112C>T c.(112-114)Ctg>Ttg p.L38L NM_014394.2 NP_055209.2 Q9H3K2 GHITM_HUMAN growth hormone inducible transmembrane protein 38 apoptosis integral to membrane|mitochondrial inner membrane breast(1)|endometrium(1)|large_intestine(3)|lung(3)|prostate(2) 10 GAATCAATGGCTGTTAACACC 0.448000 55 128 0 0 0.870114 0 0 SH3TC2 79628 broad.mit.edu 37 5 148389880 148389880 + Missense_Mutation SNP A A T TCGA-CV-5441-01A-01D-1512-08 TCGA-CV-5441-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e 79ffab90-e307-45fb-a6ce-0d9aea0b7552 g.chr5:148389880A>T ENST00000538184.1 - 10 2809 c.1921T>A c.(1921-1923)Ttc>Atc p.F641I SH3TC2_ENST00000515425.1_Missense_Mutation_p.F1094I|SH3TC2_ENST00000512049.1_Missense_Mutation_p.F1087I Q8TF17 S3TC2_HUMAN SH3 domain and tetratricopeptide repeats 2 1094 binding breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 39 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CCATTGAAGAACACATCACCT 0.537000 29 33 0 0 0.706142 0 0 PKD2L1 9033 broad.mit.edu 37 10 102050189 102050189 + Nonsense_Mutation SNP C C A TCGA-CV-5441-01A-01D-1512-08 TCGA-CV-5441-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e 79ffab90-e307-45fb-a6ce-0d9aea0b7552 g.chr10:102050189C>A ENST00000318222.3 - 13 2477 c.2095G>T c.(2095-2097)Gga>Tga p.G699* PKD2L1_ENST00000338519.3_Nonsense_Mutation_p.G624*|PKD2L1_ENST00000353274.3_Nonsense_Mutation_p.G699* NM_001253837.1|NM_016112.2 NP_001240766.1|NP_057196.2 Q9P0L9 PK2L1_HUMAN polycystic kidney disease 2-like 1 699 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) ACCCAGCCTCCTGCTCTGGCA 0.517000 17 41 7.21436e-19 9.84613e-19 0.575678 1 0 PCDHB6 56130 broad.mit.edu 37 5 140530659 140530659 + Missense_Mutation SNP G G A TCGA-CV-5441-01A-01D-1512-08 TCGA-CV-5441-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e 79ffab90-e307-45fb-a6ce-0d9aea0b7552 g.chr5:140530659G>A ENST00000231136.1 + 1 821 c.821G>A c.(820-822)gGg>gAg p.G274E PCDHB6_ENST00000543635.1_Missense_Mutation_p.G138E NM_018939.2 NP_061762.1 Q9Y5E3 PCDB6_HUMAN 274 Cadherin 3. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to plasma membrane calcium ion binding cervix(1)|endometrium(14)|kidney(6)|large_intestine(16)|liver(1)|lung(33)|ovary(1)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 84 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) GGATCGTTTGGGAAGGTATCT 0.473000 19 54 0 0 0.575678 0 0 OR1N2 138882 broad.mit.edu 37 9 125315759 125315759 + Missense_Mutation SNP C C A TCGA-CV-5441-01A-01D-1512-08 TCGA-CV-5441-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e 79ffab90-e307-45fb-a6ce-0d9aea0b7552 g.chr9:125315759C>A ENST00000373688.2 + 1 369 c.311C>A c.(310-312)aCc>aAc p.T104N NM_001004457.1 NP_001004457.1 Q8NGR9 OR1N2_HUMAN olfactory receptor, family 1, subfamily N, member 2 104 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2)|large_intestine(6)|lung(10)|ovary(2)|skin(3)|stomach(3) 26 AACATTCATACCCAGAGTCAG 0.478000 86 162 1.12511e-72 1.90485e-72 0.870114 1 0 ESPNL 339768 broad.mit.edu 37 2 239040038 239040038 + Missense_Mutation SNP G G C TCGA-CV-5441-01A-01D-1512-08 TCGA-CV-5441-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e 79ffab90-e307-45fb-a6ce-0d9aea0b7552 g.chr2:239040038G>C ENST00000343063.3 + 9 2946 c.2683G>C c.(2683-2685)Gag>Cag p.E895Q ESPNL_ENST00000477241.1_3'UTR|ESPNL_ENST00000409169.1_Missense_Mutation_p.E851Q|ESPNL_ENST00000409506.1_Missense_Mutation_p.E527Q NM_194312.2 NP_919288.2 Q6ZVH7 ESPNL_HUMAN espin-like 895 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) CCACGGCTGGGAGGCTGTGCG 0.687000 5 13 0 0 0.278610 0 0 PYGO2 90780 broad.mit.edu 37 1 154931794 154931794 + Nonsense_Mutation SNP G G A TCGA-CV-5441-01A-01D-1512-08 TCGA-CV-5441-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e 79ffab90-e307-45fb-a6ce-0d9aea0b7552 g.chr1:154931794G>A ENST00000368457.2 - 3 853 c.682C>T c.(682-684)Cag>Tag p.Q228* PYGO2_ENST00000368456.1_Nonsense_Mutation_p.Q191* NM_138300.3 NP_612157.1 Q9BRQ0 PYGO2_HUMAN pygopus family PHD finger 2 228 Pro-rich. Wnt receptor signaling pathway nucleus protein binding|zinc ion binding endometrium(2)|large_intestine(2)|lung(3)|skin(2)|urinary_tract(1) 10 all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.245) BRCA - Breast invasive adenocarcinoma(34;0.00034) CCAGGTCTCTGGAGAGGAGAA 0.637000 7 39 0 0 0.278610 0 0 WDR18 57418 broad.mit.edu 37 19 990234 990234 + Missense_Mutation SNP C C A TCGA-CV-5441-01A-01D-1512-08 TCGA-CV-5441-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e 79ffab90-e307-45fb-a6ce-0d9aea0b7552 g.chr19:990234C>A ENST00000251289.5 + 4 490 c.467C>A c.(466-468)gCc>gAc p.A156D WDR18_ENST00000591997.1_3'UTR|WDR18_ENST00000587001.2_Missense_Mutation_p.A156D NM_024100.3 NP_077005.2 Q9BV38 WDR18_HUMAN WD repeat domain 18 156 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) GTGCTGCAGGCCGACCCCTCC 0.721000 8 30 1.12685e-05 1.24559e-05 0.307466 1 0 CSMD3 114788 broad.mit.edu 37 8 113504751 113504751 + Missense_Mutation SNP G G T TCGA-CV-5441-01A-01D-1512-08 TCGA-CV-5441-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e 79ffab90-e307-45fb-a6ce-0d9aea0b7552 g.chr8:113504751G>T ENST00000297405.5 - 31 5489 c.5245C>A c.(5245-5247)Cct>Act p.P1749T CSMD3_ENST00000352409.3_Missense_Mutation_p.P1749T|CSMD3_ENST00000455883.2_Missense_Mutation_p.P1645T|CSMD3_ENST00000343508.3_Missense_Mutation_p.P1709T NM_198123.1 NP_937756.1 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 1749 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 TTCCATCCAGGTCTTCCATCA 0.348000 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 26 167 7.41945e-09 8.66683e-09 0.693898 1 0 GALNT15 117248 broad.mit.edu 37 3 16268961 16268961 + Missense_Mutation SNP G G T TCGA-CV-5441-01A-01D-1512-08 TCGA-CV-5441-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e 79ffab90-e307-45fb-a6ce-0d9aea0b7552 g.chr3:16268961G>T ENST00000339732.5 + 10 2377 c.1874G>T c.(1873-1875)cGc>cTc p.R625L GALNT15_ENST00000437509.1_Intron NM_054110.4 NP_473451.3 UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 15 GGAAAAGCCCGCCAGCAGTGG 0.443000 35 71 1.06647e-15 1.38151e-15 0.788014 1 0 IGLV3-22 28795 broad.mit.edu 37 22 23047205 23047205 + RNA SNP T T A TCGA-CV-5441-01A-01D-1512-08 TCGA-CV-5441-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e 79ffab90-e307-45fb-a6ce-0d9aea0b7552 g.chr22:23047205T>A ENST00000390307.2 + 0 307 AACGATTCTCTGGGTCCACCT 0.537000 15 26 0 0 0.479597 0 0 LRRC4 64101 broad.mit.edu 37 7 127670179 127670179 + Missense_Mutation SNP G G A TCGA-CV-5441-01A-01D-1512-08 TCGA-CV-5441-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e 79ffab90-e307-45fb-a6ce-0d9aea0b7552 g.chr7:127670179G>A ENST00000249363.3 - 2 772 c.515C>T c.(514-516)tCc>tTc p.S172F SND1_ENST00000354725.3_Intron NM_022143.4 NP_071426.1 Q9HBW1 LRRC4_HUMAN leucine rich repeat containing 4 172 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) GCGCATGAGGGAGGGCACCCG 0.567000 56 117 0 0 0.870114 0 0 RELA 5970 broad.mit.edu 37 11 65422031 65422031 + Missense_Mutation SNP T T G TCGA-CV-5441-01A-01D-1512-08 TCGA-CV-5441-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e 79ffab90-e307-45fb-a6ce-0d9aea0b7552 g.chr11:65422031T>G ENST00000406246.3 - 11 1735 c.1474A>C c.(1474-1476)Atg>Ctg p.M492L RELA_ENST00000308639.9_Missense_Mutation_p.M489L|RELA_ENST00000525693.1_3'UTR NM_001243984.1|NM_001243985.1|NM_021975.3 NP_001230913.1|NP_001230914.1|NP_068810.3 Q04206 TF65_HUMAN v-rel avian reticuloendotheliosis viral oncogene homolog A 492 anti-apoptosis|cellular defense response|cytokine-mediated signaling pathway|defense response to virus|inflammatory response|innate immune response|interspecies interaction between organisms|membrane protein intracellular domain proteolysis|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of transcription, DNA-dependent|nerve growth factor receptor signaling pathway|nucleotide-binding oligomerization domain containing 2 signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of inflammatory response|response to interleukin-1|response to UV-B|T cell receptor signaling pathway|Toll signaling pathway|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|transcription factor complex activating transcription factor binding|chromatin binding|identical protein binding|NF-kappaB binding|phosphate binding|protein kinase binding|protein N-terminus binding|repressing transcription factor binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|ubiquitin protein ligase binding central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(11)|ovary(1)|urinary_tract(1) 19 TCCATCAGCATGGGCTCAGTT 0.637000 34 138 0 0 0.788014 0 0 MAPRE1 22919 broad.mit.edu 37 20 31434486 31434486 + Silent SNP G G A TCGA-CV-5441-01A-01D-1512-08 TCGA-CV-5441-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e 79ffab90-e307-45fb-a6ce-0d9aea0b7552 g.chr20:31434486G>A ENST00000375571.5 + 6 799 c.660G>A c.(658-660)aaG>aaA p.K220K RP5-1085F17.4_ENST00000565572.1_RNA NM_012325.2 NP_036457.1 Q15691 MARE1_HUMAN microtubule-associated protein, RP/EB family, member 1 220 APC-binding.|DCTN1-binding.|EB1 C-terminal.|Interaction with CDK5RAP2.|Interaction with MTUS2/TIP150. cell division|cell proliferation|G2/M transition of mitotic cell cycle|mitotic prometaphase|negative regulation of microtubule polymerization|protein localization to microtubule centrosome|cortical microtubule cytoskeleton|cytosol microtubule plus-end binding|protein C-terminus binding endometrium(2)|large_intestine(1)|lung(3)|prostate(2) 8 ACTTCGGAAAGCTACGGAACA 0.423000 69 163 0 0 0.870114 0 0 FAM83B 222584 broad.mit.edu 37 6 54806055 54806055 + Silent SNP G G A TCGA-CV-5441-01A-01D-1512-08 TCGA-CV-5441-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e 79ffab90-e307-45fb-a6ce-0d9aea0b7552 g.chr6:54806055G>A ENST00000306858.7 + 5 2402 c.2286G>A c.(2284-2286)aaG>aaA p.K762K NM_001010872.1 NP_001010872.1 Q5T0W9 FA83B_HUMAN family with sequence similarity 83, member B 762 autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1) 71 Lung NSC(77;0.0178)|Renal(3;0.122) AGGAAGTTAAGGGTTCCCCAA 0.378000 34 102 0 0 0.769981 0 0 CDS2 8760 broad.mit.edu 37 20 5166473 5166473 + Splice_Site SNP G G A TCGA-CV-5441-01A-01D-1512-08 TCGA-CV-5441-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e 79ffab90-e307-45fb-a6ce-0d9aea0b7552 g.chr20:5166473G>A ENST00000460006.1 + 9 1135 c.e9+1 CDS2_ENST00000535100.1_Splice_Site|CDS2_ENST00000379070.3_Splice_Site|CDS2_ENST00000379062.4_Splice_Site NM_003818.3 NP_003809.1 O95674 CDS2_HUMAN CDP-diacylglycerol synthase (phosphatidate cytidylyltransferase) 2 phospholipid biosynthetic process integral to membrane|mitochondrial inner membrane phosphatidate cytidylyltransferase activity cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(4)|prostate(1)|stomach(1) 14 TGGCCTTCTGGTAGGTGGTGG 0.557000 43 88 0 0 0.853193 0 0 PCDH17 27253 broad.mit.edu 37 13 58208987 58208987 + Silent SNP G G T rs77228191 by1000genomes TCGA-CV-5441-01A-01D-1512-08 TCGA-CV-5441-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e 79ffab90-e307-45fb-a6ce-0d9aea0b7552 g.chr13:58208987G>T ENST00000377918.3 + 1 2333 c.2307G>T c.(2305-2307)ctG>ctT p.L769L NM_001040429.2 NP_001035519.1 O14917 PCD17_HUMAN protocadherin 17 769 homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding|protein binding breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2) 120 Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132) GBM - Glioblastoma multiforme(99;1.06e-05) ATATCATGCTGGTGCAGAGCG 0.572000 19 25 8.00594e-06 8.92329e-06 0.557998 1 0 IGHV3-73 28409 broad.mit.edu 37 14 107211110 107211110 + RNA SNP G G A TCGA-CV-5441-01A-01D-1512-08 TCGA-CV-5441-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e 79ffab90-e307-45fb-a6ce-0d9aea0b7552 g.chr14:107211110G>A ENST00000390636.2 - 0 258 CCCTTTCCCGGAAGCCTGGCG 0.592000 31 95 0 0 0.796494 0 0 OR56A1 120796 broad.mit.edu 37 11 6048725 6048725 + Silent SNP G G A TCGA-CV-5441-01A-01D-1512-08 TCGA-CV-5441-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e 79ffab90-e307-45fb-a6ce-0d9aea0b7552 g.chr11:6048725G>A ENST00000316650.5 - 1 246 c.210C>T c.(208-210)ctC>ctT p.L70L NM_001001917.2 NP_001001917.2 Q8NGH5 O56A1_HUMAN olfactory receptor, family 56, subfamily A, member 1 70 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(22)|ovary(2) 33 Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114) Epithelial(150;7.01e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) AGAGGAGGCTGAGCAGGTAGT 0.597000 26 70 0 0 0.717897 0 0 IGHV4-28 28400 broad.mit.edu 37 14 106780623 106780623 + RNA SNP G G A TCGA-CV-5441-01A-01D-1512-08 TCGA-CV-5441-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e 79ffab90-e307-45fb-a6ce-0d9aea0b7552 g.chr14:106780623G>A ENST00000390612.2 - 0 312 TTGAGGGACGGGTTGTAGTAG 0.557000 64 162 0 0 0.870114 0 0 SLC26A7 115111 broad.mit.edu 37 8 92307834 92307834 + Missense_Mutation SNP C C A TCGA-CV-5441-01A-01D-1512-08 TCGA-CV-5441-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e 79ffab90-e307-45fb-a6ce-0d9aea0b7552 g.chr8:92307834C>A ENST00000276609.3 + 4 619 c.380C>A c.(379-381)aCc>aAc p.T127N SLC26A7_ENST00000523719.1_Missense_Mutation_p.T127N|SLC26A7_ENST00000309536.2_Missense_Mutation_p.T127N NM_052832.2 NP_439897.1 Q8TE54 S26A7_HUMAN solute carrier family 26 (anion exchanger), member 7 127 basolateral plasma membrane|integral to membrane|recycling endosome membrane anion:anion antiporter activity|bicarbonate transmembrane transporter activity|chloride channel activity|oxalate transmembrane transporter activity|sulfate transmembrane transporter activity breast(1)|cervix(1)|endometrium(4)|large_intestine(10)|lung(26)|ovary(3)|skin(4)|upper_aerodigestive_tract(1) 50 BRCA - Breast invasive adenocarcinoma(11;0.00802) CAGAATCTCACCACACAGAGT 0.498000 11 152 0.00829132 0.00861331 0.361761 1 0 NPAS3 64067 broad.mit.edu 37 14 34269516 34269516 + Missense_Mutation SNP C C A TCGA-CV-5441-01A-01D-1512-08 TCGA-CV-5441-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e 79ffab90-e307-45fb-a6ce-0d9aea0b7552 g.chr14:34269516C>A ENST00000346562.2 + 11 1981 c.1907C>A c.(1906-1908)cCg>cAg p.P636Q NPAS3_ENST00000357798.5_Missense_Mutation_p.P655Q|NPAS3_ENST00000356141.4_Missense_Mutation_p.P668Q|NPAS3_ENST00000548645.1_Missense_Mutation_p.P638Q|NPAS3_ENST00000551492.1_Missense_Mutation_p.P673Q NM_001164749.1|NM_001165893.1|NM_022123.2|NM_173159.2 NP_001158221.1|NP_001159365.1|NP_071406.1|NP_775182.1 Q8IXF0 NPAS3_HUMAN neuronal PAS domain protein 3 668 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|signal transducer activity breast(4)|endometrium(3)|kidney(1)|large_intestine(6)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 40 Breast(36;0.0102)|Hepatocellular(127;0.133) LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00968) GBM - Glioblastoma multiforme(1;1.31e-09)|all cancers(1;0.000112)|OV - Ovarian serous cystadenocarcinoma(311;0.115) TGGAACTACCCGCCCAACCGG 0.622000 29 85 2.85442e-18 3.82735e-18 0.750413 1 0 HAO1 54363 broad.mit.edu 37 20 7866414 7866414 + Missense_Mutation SNP A A C TCGA-CV-5441-01A-01D-1512-08 TCGA-CV-5441-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e 79ffab90-e307-45fb-a6ce-0d9aea0b7552 g.chr20:7866414A>C ENST00000378789.3 - 6 962 c.911T>G c.(910-912)cTg>cGg p.L304R NM_017545.2 NP_060015.1 Q9UJM8 HAOX1_HUMAN hydroxyacid oxidase (glycolate oxidase) 1 304 FMN hydroxy acid dehydrogenase. cellular nitrogen compound metabolic process|fatty acid alpha-oxidation|glycolate catabolic process|glyoxylate metabolic process peroxisomal matrix FMN binding|glycolate oxidase activity|glyoxylate oxidase activity breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(19)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 36 GCCAAGAGCCAGAGCTTTCAG 0.488000 59 146 0 0 0.870114 0 0 NR2F1 7025 broad.mit.edu 37 5 92929334 92929334 + Missense_Mutation SNP A A T TCGA-CV-5441-01A-01D-1512-08 TCGA-CV-5441-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e 79ffab90-e307-45fb-a6ce-0d9aea0b7552 g.chr5:92929334A>T ENST00000327111.3 + 3 2745 c.1058A>T c.(1057-1059)gAg>gTg p.E353V NR2F1_ENST00000506162.1_3'UTR NM_005654.4 NP_005645.1 P10589 COT1_HUMAN nuclear receptor subfamily 2, group F, member 1 353 negative regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm ligand-regulated transcription factor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription coactivator activity|zinc ion binding NS(1)|breast(1)|endometrium(4)|large_intestine(6)|lung(2)|ovary(3)|prostate(1)|skin(1)|urinary_tract(2) 21 all_cancers(142;1.62e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0126)|Lung NSC(167;0.0155)|Ovarian(174;0.0218)|Prostate(281;0.173)|Colorectal(57;0.19) UCEC - Uterine corpus endometrioid carcinoma (5;0.0416)|all cancers(79;9.57e-18) TGCGCACTGGAGGAGTACGTG 0.647000 23 77 0 0 0.624587 0 0 PCDHGA11 56105 broad.mit.edu 37 5 140802351 140802351 + Missense_Mutation SNP A A T TCGA-CV-5441-01A-01D-1512-08 TCGA-CV-5441-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e 79ffab90-e307-45fb-a6ce-0d9aea0b7552 g.chr5:140802351A>T ENST00000398587.2 + 1 1590 c.1557A>T c.(1555-1557)caA>caT p.Q519H PCDHGA9_ENST00000573521.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA11_ENST00000518882.1_Missense_Mutation_p.Q519H|PCDHGA5_ENST00000518069.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA7_ENST00000518325.1_Intron NM_018914.2|NM_032092.1 NP_061737.1|NP_114481.1 breast(3)|endometrium(8)|kidney(3)|large_intestine(9)|lung(22)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1) 49 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) ATGCCCTACAATCCTTCGACT 0.542000 43 126 0 0 0.847076 0 0 DCBLD1 285761 broad.mit.edu 37 6 117825024 117825024 + Silent SNP A A G TCGA-CV-5441-01A-01D-1512-08 TCGA-CV-5441-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e 79ffab90-e307-45fb-a6ce-0d9aea0b7552 g.chr6:117825024A>G ENST00000338728.5 + 2 327 c.207A>G c.(205-207)gaA>gaG p.E69E DCBLD1_ENST00000368503.4_Silent_p.E69E|DCBLD1_ENST00000296955.8_Silent_p.E69E|GOPC_ENST00000467125.1_Intron Q8N8Z6 DCBD1_HUMAN discoidin, CUB and LCCL domain containing 1 69 CUB. cell adhesion integral to membrane breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(15)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 26 all_cancers(87;0.171) GBM - Glioblastoma multiforme(226;0.0447)|OV - Ovarian serous cystadenocarcinoma(136;0.0921)|all cancers(137;0.125) CTGTTTGCGAAAAGACAATTA 0.453000 42 235 0 0 0.834066 0 0 C1orf116 79098 broad.mit.edu 37 1 207196627 207196627 + Missense_Mutation SNP G G A TCGA-CV-5441-01A-01D-1512-08 TCGA-CV-5441-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e 79ffab90-e307-45fb-a6ce-0d9aea0b7552 g.chr1:207196627G>A ENST00000359470.5 - 4 731 c.482C>T c.(481-483)cCg>cTg p.P161L C1orf116_ENST00000461135.2_5'UTR NM_023938.5 NP_076427.2 Q9BW04 SARG_HUMAN chromosome 1 open reading frame 116 161 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) AAGCCTCCCCGGTTCTCCAGG 0.602000 40 81 0 0 0.827153 0 0 TTN 7273 broad.mit.edu 37 2 179578813 179578813 + Missense_Mutation SNP C C T TCGA-CV-5441-01A-01D-1512-08 TCGA-CV-5441-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e 79ffab90-e307-45fb-a6ce-0d9aea0b7552 g.chr2:179578813C>T ENST00000589042.1 - 92 26796 c.26572G>A c.(26572-26574)Gaa>Aaa p.E8858K TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.E8541K|TTN_ENST00000342992.6_Missense_Mutation_p.E7614K|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 8541 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) GTACTGAGTTCAGGGGTGCCA 0.413000 19 46 0 0 0.539581 0 0 OR5D13 390142 broad.mit.edu 37 11 55540998 55540998 + Missense_Mutation SNP C C A TCGA-CV-5441-01A-01D-1512-08 TCGA-CV-5441-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e 79ffab90-e307-45fb-a6ce-0d9aea0b7552 g.chr11:55540998C>A ENST00000361760.1 + 1 85 c.85C>A c.(85-87)Ctc>Atc p.L29I NM_001001967.1 NP_001001967.1 Q8NGL4 OR5DD_HUMAN olfactory receptor, family 5, subfamily D, member 13 29 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(1)|lung(20)|ovary(1)|pancreas(2)|skin(2)|stomach(1)|urinary_tract(1) 40 all_epithelial(135;0.196) CCAGGTTCCACTCTTTCTGGT 0.393000 56 67 3.53049e-34 5.50674e-34 0.870114 1 0 WDR3 10885 broad.mit.edu 37 1 118481110 118481110 + Missense_Mutation SNP G G A TCGA-CV-5441-01A-01D-1512-08 TCGA-CV-5441-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e 79ffab90-e307-45fb-a6ce-0d9aea0b7552 g.chr1:118481110G>A ENST00000349139.4 + 5 555 c.508G>A c.(508-510)Gat>Aat p.D170N WDR3_ENST00000471680.1_3'UTR|WDR3_ENST00000369441.3_3'UTR NM_006784.2 NP_006775.1 Q9UNX4 WDR3_HUMAN WD repeat domain 3 170 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) TAGTGGGAAAGATACCATGGT 0.423000 27 67 0 0 0.706142 0 0 CACNG6 59285 broad.mit.edu 37 19 54515364 54515364 + Missense_Mutation SNP C C A TCGA-CV-5441-01A-01D-1512-08 TCGA-CV-5441-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e 79ffab90-e307-45fb-a6ce-0d9aea0b7552 g.chr19:54515364C>A ENST00000252729.2 + 4 1294 c.704C>A c.(703-705)gCc>gAc p.A235D CACNG6_ENST00000352529.1_Missense_Mutation_p.A164D|CACNG6_ENST00000346968.2_Missense_Mutation_p.A189D NM_145814.1 NP_665813.1 Q9BXT2 CCG6_HUMAN calcium channel, voltage-dependent, gamma subunit 6 235 voltage-gated calcium channel complex voltage-gated calcium channel activity p.A235V(1) breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 15 all_cancers(19;0.0128)|all_epithelial(19;0.00564)|all_lung(19;0.031)|Lung NSC(19;0.0358)|Ovarian(34;0.19) GBM - Glioblastoma multiforme(134;0.168) CTGTTGGGGGCCGGCTGCTTT 0.701000 39 52 1.61572e-30 2.44876e-30 0.853193 1 0 C1orf159 54991 broad.mit.edu 37 1 1021283 1021283 + Frame_Shift_Del DEL G G - TCGA-CV-5441-01A-01D-1512-08 TCGA-CV-5441-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e 79ffab90-e307-45fb-a6ce-0d9aea0b7552 g.chr1:1021283delG ENST00000448924.1 - 8 959 c.528delC c.(526-528)ccfs p.P176fs C1orf159_ENST00000379320.1_Frame_Shift_Del_p.P140fs|C1orf159_ENST00000437760.1_Frame_Shift_Del_p.P140fs|C1orf159_ENST00000421241.2_Frame_Shift_Del_p.P140fs|C1orf159_ENST00000379339.1_Frame_Shift_Del_p.P176fs|C1orf159_ENST00000294576.5_Frame_Shift_Del_p.P140fs|C1orf159_ENST00000379319.1_Frame_Shift_Del_p.P140fs|C1orf159_ENST00000482816.1_5'UTR Q96HA4 CA159_HUMAN chromosome 1 open reading frame 159 176 integral to membrane 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;2.96e-36)|OV - Ovarian serous cystadenocarcinoma(86;1.77e-22)|Colorectal(212;6.51e-05)|COAD - Colon adenocarcinoma(227;0.000214)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|Kidney(185;0.00254)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.037)|Lung(427;0.205) AGCAGGCCCTGGGGAGTTTAC 0.627 12 47 --- --- --- --- CSMD2 114784 broad.mit.edu 37 1 34066567 34066567 + Frame_Shift_Del DEL G G - rs114879806 byFrequency TCGA-CV-5441-01A-01D-1512-08 TCGA-CV-5441-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e 79ffab90-e307-45fb-a6ce-0d9aea0b7552 g.chr1:34066567delG ENST00000373381.4 - 44 6930 c.6754delC c.(6754-6756)ggfs p.R2252fs CSMD2_ENST00000373377.1_Frame_Shift_Del_p.R351fs|CSMD2_ENST00000489419.1_5'UTR|CSMD2_ENST00000373388.2_Frame_Shift_Del_p.R351fs|CSMD2_ENST00000373380.1_Frame_Shift_Del_p.R1125fs NM_052896.3 NP_443128.2 Q7Z408 CSMD2_HUMAN CUB and Sushi multiple domains 2 2254 CUB 13. 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) GCCATGCTCCGGGTGAAGACG 0.572 68 201 --- --- --- --- HMCN1 83872 broad.mit.edu 37 1 185878573 185878574 + Frame_Shift_Ins INS - - A TCGA-CV-5441-01A-01D-1512-08 TCGA-CV-5441-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e 79ffab90-e307-45fb-a6ce-0d9aea0b7552 g.chr1:185878573_185878574insA ENST00000271588.4 + 5 955_956 c.726_727insA c.(724-729)ccgcctfs p.P243fs HMCN1_ENST00000367492.2_Frame_Shift_Ins_p.P243fs NM_031935.2 NP_114141.2 Q96RW7 HMCN1_HUMAN hemicentin 1 243 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 CTTTTGATCCCAGCCTGAAAGA 0.391 19 74 --- --- --- --- MIA3 375056 broad.mit.edu 37 1 222837351 222837352 + Frame_Shift_Ins INS - - C TCGA-CV-5441-01A-01D-1512-08 TCGA-CV-5441-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e 79ffab90-e307-45fb-a6ce-0d9aea0b7552 g.chr1:222837351_222837352insC ENST00000344922.5 + 27 5299_5300 c.5274_5275insC c.(5272-5277)gccaaafs p.K1759fs MIA3_ENST00000344507.1_Intron|MIA3_ENST00000344441.6_Frame_Shift_Ins_p.K1759fs|MIA3_ENST00000340535.7_Frame_Shift_Ins_p.K637fs NM_198551.2 NP_940953.2 Q5JRA6 MIA3_HUMAN melanoma inhibitory activity family, member 3 1759 Pro-rich. 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) TTAATATGGCTCCAAAAGGGCC 0.485 27 93 --- --- --- --- ACTN2 88 broad.mit.edu 37 1 236882193 236882193 + Splice_Site DEL G G - TCGA-CV-5441-01A-01D-1512-08 TCGA-CV-5441-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e 79ffab90-e307-45fb-a6ce-0d9aea0b7552 g.chr1:236882193delG ENST00000366578.4 + 3 407 c.e3-1 ACTN2_ENST00000542672.1_Splice_Site|ACTN2_ENST00000492634.1_Splice_Site NM_001103.2|NM_001278343.1 NP_001094.1|NP_001265272.1 P35609 ACTN2_HUMAN actinin, alpha 2 focal adhesion assembly|microspike assembly|muscle filament sliding|platelet activation|platelet degranulation|protein homotetramerization|regulation of apoptosis|synaptic transmission actin filament|cytosol|dendritic spine|extracellular region|filopodium|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium|Z disc actin binding|calcium ion binding|FATZ 1 binding|identical protein binding|integrin binding|protein dimerization activity|structural constituent of muscle|titin binding|titin Z domain binding|ZASP 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) TCATCCAACAGGGGAAAGGCT 0.433 20 71 --- --- --- --- FBXO11 80204 broad.mit.edu 37 2 48059803 48059804 + Frame_Shift_Ins INS - - T TCGA-CV-5441-01A-01D-1512-08 TCGA-CV-5441-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e 79ffab90-e307-45fb-a6ce-0d9aea0b7552 g.chr2:48059803_48059804insT ENST00000403359.3 - 10 1239_1240 c.1167_1168insA c.(1165-1170)gtgtgtfs p.C390fs FBXO11_ENST00000402508.1_Frame_Shift_Ins_p.C306fs|FBXO11_ENST00000316377.4_Frame_Shift_Ins_p.C306fs NM_001190274.1 NP_001177203.1 Q86XK2 FBX11_HUMAN F-box protein 11 390 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) 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) CCACTAACACATACTGCAGAAC 0.332 """Mis, F, D""" DLBCL 41 78 --- --- --- --- IGKV3-11 28914 broad.mit.edu 37 2 89327213 89327214 + RNA INS - - C TCGA-CV-5441-01A-01D-1512-08 TCGA-CV-5441-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e 79ffab90-e307-45fb-a6ce-0d9aea0b7552 g.chr2:89327213_89327214insC ENST00000483158.1 - 0 14_15 GAGCAGTTCCTCCCCAGGGCTC 0.599 23 72 --- --- --- --- DGKD 8527 broad.mit.edu 37 2 234375851 234375852 + Splice_Site INS - - C TCGA-CV-5441-01A-01D-1512-08 TCGA-CV-5441-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e 79ffab90-e307-45fb-a6ce-0d9aea0b7552 g.chr2:234375851_234375852insC ENST00000264057.2 + 28 3436 c.e28+2 DGKD_ENST00000409813.3_Splice_Site NM_152879.2 NP_690618.2 Q16760 DGKD_HUMAN diacylglycerol kinase, delta 130kDa activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell growth|diacylglycerol metabolic process|endocytosis|epidermal growth factor receptor signaling pathway|multicellular organismal development|platelet activation|protein homooligomerization|protein transport|response to organic substance|second-messenger-mediated signaling cytoplasm|cytoplasmic membrane-bounded vesicle|plasma membrane ATP binding|diacylglycerol binding|diacylglycerol kinase activity|metal ion binding|protein heterodimerization activity|protein homodimerization activity central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(13)|lung(15)|ovary(1)|pancreas(1)|skin(1) 38 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;0.0538) Epithelial(121;1.31e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000416)|Lung(119;0.00285)|LUSC - Lung squamous cell carcinoma(224;0.00655) Phosphatidylserine(DB00144) GAGCCCCGGGTACCTGCCTCTC 0.579 9 266 --- --- --- --- GRIP2 80852 broad.mit.edu 37 3 14555758 14555759 + RNA INS - - AGTT rs10656368 by1000genomes TCGA-CV-5441-01A-01D-1512-08 TCGA-CV-5441-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e 79ffab90-e307-45fb-a6ce-0d9aea0b7552 g.chr3:14555758_14555759insAGTT ENST00000273083.3 - 0 1558 Q9C0E4 GRIP2_HUMAN glutamate receptor interacting protein 2 synaptic transmission cytosol|plasma membrane protein binding endometrium(5)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(5)|skin(1) 25 CAGTTTCTCTCAGAGAGTGGCA 0.579 5 11 --- --- --- --- CLSTN2 64084 broad.mit.edu 37 3 140122626 140122626 + Frame_Shift_Del DEL G G - TCGA-CV-5441-01A-01D-1512-08 TCGA-CV-5441-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e 79ffab90-e307-45fb-a6ce-0d9aea0b7552 g.chr3:140122626delG ENST00000458420.3 + 3 578 c.388delG c.(388-390)gtfs p.G130fs NM_022131.2 NP_071414.2 Q9H4D0 CSTN2_HUMAN calsyntenin 2 130 Cadherin 1. homophilic cell adhesion endoplasmic reticulum membrane|Golgi 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 CTATGACTGTGGTGCTGGGCC 0.587 HNSCC(16;0.037) 52 108 --- --- --- --- SPATA16 83893 broad.mit.edu 37 3 172835328 172835329 + Frame_Shift_Ins INS - - T TCGA-CV-5441-01A-01D-1512-08 TCGA-CV-5441-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e 79ffab90-e307-45fb-a6ce-0d9aea0b7552 g.chr3:172835328_172835329insT ENST00000351008.3 - 2 376_377 c.193_194insA c.(193-195)gacfs p.D65fs NM_031955.5 NP_114161.3 Q9BXB7 SPT16_HUMAN spermatogenesis associated 16 65 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) GCCCTTTGTCATTTTTGTTCTT 0.401 84 305 --- --- --- --- EPHB3 2049 broad.mit.edu 37 3 184294701 184294701 + Frame_Shift_Del DEL C C - TCGA-CV-5441-01A-01D-1512-08 TCGA-CV-5441-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e 79ffab90-e307-45fb-a6ce-0d9aea0b7552 g.chr3:184294701delC ENST00000330394.2 + 5 1536 c.1084delC c.(1084-1086)ccfs p.P362fs EIF2B5_ENST00000444495.1_Intron NM_004443.3 NP_004434.2 P54753 EPHB3_HUMAN EPH receptor B3 362 Fibronectin type-III 1. 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) GTGGAGTGAGCCCCGGGACCT 0.577 56 163 --- --- --- --- PAK2 5062 broad.mit.edu 37 3 196541368 196541368 + Frame_Shift_Del DEL G G - TCGA-CV-5441-01A-01D-1512-08 TCGA-CV-5441-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e 79ffab90-e307-45fb-a6ce-0d9aea0b7552 g.chr3:196541368delG ENST00000327134.3 + 11 1304 c.982delG c.(982-984)ggfs p.G329fs NM_002577.4 NP_002568.2 Q13177 PAK2_HUMAN p21 protein (Cdc42/Rac)-activated kinase 2 329 Protein kinase. G -> R (in Ref. 3; AAA75468). axon guidance|cellular component disassembly involved in apoptosis|interspecies interaction between organisms|negative regulation of protein kinase activity|peptidyl-serine phosphorylation|positive regulation of peptidyl-tyrosine phosphorylation|protein autophosphorylation|regulation of apoptosis|regulation of defense response to virus by virus|regulation of growth|T cell costimulation|T cell receptor signaling pathway|viral reproduction cytosol|nucleus|perinuclear region of cytoplasm|plasma membrane ATP binding|identical protein binding|protein kinase binding|protein serine/threonine kinase activity|protein tyrosine kinase activator activity breast(1)|cervix(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(2) 12 all_cancers(143;1.8e-08)|Ovarian(172;0.0634)|Breast(254;0.135) Epithelial(36;1.07e-23)|all cancers(36;6.38e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.5e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06) GBM - Glioblastoma multiforme(46;0.00405) ATACCTTGCTGGGGGGTCACT 0.408 72 195 --- --- --- --- LINC00504 201853 broad.mit.edu 37 4 14562533 14562536 + RNA DEL GAAG GAAG - rs140455372 TCGA-CV-5441-01A-01D-1512-08 TCGA-CV-5441-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e 79ffab90-e307-45fb-a6ce-0d9aea0b7552 g.chr4:14562533_14562536delGAAG ENST00000505089.1 - 0 461 agggagggaagaaggaaggaagga 0.422 3 4 --- --- --- --- TAPT1-AS1 202020 broad.mit.edu 37 4 16304713 16304714 + RNA DEL AT AT - TCGA-CV-5441-01A-01D-1512-08 TCGA-CV-5441-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e 79ffab90-e307-45fb-a6ce-0d9aea0b7552 g.chr4:16304713_16304714delAT ENST00000573950.1 + 0 434 acacacacacatacacagagag 0.490 3 3 --- --- --- --- F11-AS1 285441 broad.mit.edu 37 4 187250800 187250800 + RNA DEL G G - TCGA-CV-5441-01A-01D-1512-08 TCGA-CV-5441-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e 79ffab90-e307-45fb-a6ce-0d9aea0b7552 g.chr4:187250800delG ENST00000505103.1 - 0 153 NR_033900.1 GGGACTGGGCGGGAACCGGCT 0.502 6 2 --- --- --- --- NSD1 64324 broad.mit.edu 37 5 176700778 176700779 + Frame_Shift_Del DEL AT AT - TCGA-CV-5441-01A-01D-1512-08 TCGA-CV-5441-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e 79ffab90-e307-45fb-a6ce-0d9aea0b7552 g.chr5:176700778_176700779delAT ENST00000439151.2 + 17 5660_5661 c.5615_5616delAT c.(5614-5616)cfs p.H1872fs NSD1_ENST00000361032.4_Frame_Shift_Del_p.H1769fs|NSD1_ENST00000354179.4_Frame_Shift_Del_p.H1603fs|NSD1_ENST00000347982.4_Frame_Shift_Del_p.H1603fs NM_022455.4 NP_071900.2 Q96L73 NSD1_HUMAN nuclear receptor binding SET domain protein 1 1872 negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nucleus androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3) 96 all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002) 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)|Epithelial(233;0.198) Kidney(146;0.235) CCTTATAAACATATAAAGGTGA 0.450 T NUP98 AML Sotos Syndrome Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome HNSCC(47;0.14) 21 25 --- --- --- --- SAMD3 154075 broad.mit.edu 37 6 130497054 130497054 + Frame_Shift_Del DEL G G - TCGA-CV-5441-01A-01D-1512-08 TCGA-CV-5441-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e 79ffab90-e307-45fb-a6ce-0d9aea0b7552 g.chr6:130497054delG ENST00000532763.1 - 7 877 c.748delC c.(748-750)gafs p.R251fs SAMD3_ENST00000368134.2_Frame_Shift_Del_p.R253fs|SAMD3_ENST00000457563.2_Frame_Shift_Del_p.R277fs|SAMD3_ENST00000533296.1_5'UTR|SAMD3_ENST00000439090.2_Frame_Shift_Del_p.R253fs|SAMD3_ENST00000437477.2_Frame_Shift_Del_p.R253fs Q8N6K7 SAMD3_HUMAN sterile alpha motif domain containing 3 253 breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(3)|lung(15)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 29 GBM - Glioblastoma multiforme(226;0.00594)|OV - Ovarian serous cystadenocarcinoma(155;0.128) TGGCCTCTTCGGTGTCCAAAT 0.348 53 246 --- --- --- --- ARID1B 57492 broad.mit.edu 37 6 157470017 157470018 + Frame_Shift_Del DEL TG TG - TCGA-CV-5441-01A-01D-1512-08 TCGA-CV-5441-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e 79ffab90-e307-45fb-a6ce-0d9aea0b7552 g.chr6:157470017_157470018delTG ENST00000346085.5 + 9 2812_2813 c.2811_2812delTG c.(2809-2814)actgfs p.TV937fs ARID1B_ENST00000350026.5_Frame_Shift_Del_p.TV924fs|ARID1B_ENST00000275248.4_Frame_Shift_Del_p.TV866fs|ARID1B_ENST00000478761.1_3'UTR|ARID1B_ENST00000367148.1_Frame_Shift_Del_p.TV924fs NM_020732.3 NP_065783.3 Q8NFD5 ARI1B_HUMAN AT rich interactive domain 1B (SWI1-like) 924 chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent SWI/SNF complex DNA binding|protein binding|transcription coactivator activity NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3) 81 Breast(66;0.000162)|Ovarian(120;0.0265) OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05) CAATGCCAACTGTGAACCGTAA 0.604 47 43 --- --- --- --- AIMP2 7965 broad.mit.edu 37 7 6057627 6057628 + Frame_Shift_Ins INS - - C TCGA-CV-5441-01A-01D-1512-08 TCGA-CV-5441-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e 79ffab90-e307-45fb-a6ce-0d9aea0b7552 g.chr7:6057627_6057628insC ENST00000223029.3 + 3 644_645 c.525_526insC c.(523-528)aaagccfs p.KA175fs AIMP2_ENST00000400479.2_Frame_Shift_Ins_p.KA97fs|AIMP2_ENST00000395236.2_Frame_Shift_Ins_p.KA106fs NM_006303.3 NP_006294.2 Q13155 AIMP2_HUMAN aminoacyl tRNA synthetase complex-interacting multifunctional protein 2 175 Interaction with TP53. apoptosis|cell differentiation|multicellular organismal development|tRNA aminoacylation for protein translation cytosol|nucleus protein binding large_intestine(3)|liver(2)|lung(5)|ovary(1)|prostate(1)|skin(1) 13 AGAATAAAAAACAGCCCCGCCA 0.495 7 23 --- --- --- --- PKHD1L1 93035 broad.mit.edu 37 8 110453596 110453596 + Frame_Shift_Del DEL G G - TCGA-CV-5441-01A-01D-1512-08 TCGA-CV-5441-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e 79ffab90-e307-45fb-a6ce-0d9aea0b7552 g.chr8:110453596delG ENST00000378402.5 + 34 4296 c.4192delG c.(4192-4194)ggfs p.G1398fs NM_177531.4 NP_803875.2 Q86WI1 PKHL1_HUMAN polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 1398 IPT/TIG 7. 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) TACCAACAATGGGAAAGATTC 0.289 HNSCC(38;0.096) 11 32 --- --- --- --- C9orf72 203228 broad.mit.edu 37 9 27561618 27561620 + In_Frame_Del DEL ATC ATC - TCGA-CV-5441-01A-01D-1512-08 TCGA-CV-5441-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e 79ffab90-e307-45fb-a6ce-0d9aea0b7552 g.chr9:27561618_27561620delATC ENST00000380003.3 - 5 691_693 c.628_630delGAT c.(628-630)del p.D210del C9orf72_ENST00000379997.3_In_Frame_Del_p.D210del|C9orf72_ENST00000488117.1_5'UTR NM_001256054.1|NM_018325.3 NP_001242983.1|NP_060795.1 Q96LT7 CI072_HUMAN chromosome 9 open reading frame 72 210 breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(10)|ovary(4)|pancreas(1) 23 all_neural(11;7.57e-10) LUSC - Lung squamous cell carcinoma(38;0.0001)|Lung(218;0.00016) TGTCACCAATATCATCATCATTG 0.315 29 98 --- --- --- --- SYK 6850 broad.mit.edu 37 9 93606272 93606273 + Frame_Shift_Ins INS - - G TCGA-CV-5441-01A-01D-1512-08 TCGA-CV-5441-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e 79ffab90-e307-45fb-a6ce-0d9aea0b7552 g.chr9:93606272_93606273insG ENST00000375754.4 + 2 240_241 c.92_93insG c.(91-93)cggfs p.R31fs SYK_ENST00000375746.1_Frame_Shift_Ins_p.R31fs|SYK_ENST00000375747.1_Frame_Shift_Ins_p.R31fs|SYK_ENST00000375751.4_Frame_Shift_Ins_p.R31fs|SYK_ENST00000476708.1_3'UTR NM_003177.5 NP_003168.2 P43405 KSYK_HUMAN spleen tyrosine kinase 31 SH2 1. cell proliferation|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte cell-cell adhesion|neutrophil chemotaxis|organ morphogenesis|platelet activation|protein complex assembly cytosol|T cell receptor complex ATP binding|integrin binding|non-membrane spanning protein tyrosine kinase activity breast(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(3)|skin(2)|stomach(2) 26 TACCTGGTCCAGGGGGGCATGA 0.619 T """ETV6, ITK""" """MDS, peripheral T-cell lymphoma""" 17 18 --- --- --- --- NOTCH1 4851 broad.mit.edu 37 9 139407552 139407552 + Frame_Shift_Del DEL C C - rs143360959 by1000genomes TCGA-CV-5441-01A-01D-1512-08 TCGA-CV-5441-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e 79ffab90-e307-45fb-a6ce-0d9aea0b7552 g.chr9:139407552delC ENST00000277541.6 - 15 2463 c.2388delG c.(2386-2388)gcfs p.A796fs NM_017617.3 NP_060087.3 P46531 NOTC1_HUMAN notch 1 796 EGF-like 21; calcium-binding (Potential). 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|Notch receptor processing cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane calcium ion binding|protein binding|receptor activity 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) ATGGGTTGGACGCACACTCGT 0.622 """T, Mis, O""" TRB@ T-ALL HNSCC(8;0.001) 26 36 --- --- --- --- OR8D4 338662 broad.mit.edu 37 11 123777721 123777721 + Frame_Shift_Del DEL G G - TCGA-CV-5441-01A-01D-1512-08 TCGA-CV-5441-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e 79ffab90-e307-45fb-a6ce-0d9aea0b7552 g.chr11:123777721delG ENST00000321355.2 + 1 613 c.583delG c.(583-585)atfs p.D195fs NM_001005197.1 NP_001005197.1 Q8NGM9 OR8D4_HUMAN olfactory receptor, family 8, subfamily D, member 4 195 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity large_intestine(1)|lung(16)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 25 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;4.93e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0409) CACTTATATTGATGAGCTTTT 0.373 91 107 --- --- --- --- NACA 4666 broad.mit.edu 37 12 57112598 57112604 + Frame_Shift_Del DEL TGGGTGC TGGGTGC - TCGA-CV-5441-01A-01D-1512-08 TCGA-CV-5441-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e 79ffab90-e307-45fb-a6ce-0d9aea0b7552 g.chr12:57112598_57112604delTGGGTGC ENST00000454682.1 - 3 2991_2997 c.2710_2716delGCACCCA c.(2710-2718)aafs p.APK904fs NACA_ENST00000552540.1_Intron|NACA_ENST00000551793.1_Intron|NACA_ENST00000550952.1_Intron|NACA_ENST00000546392.1_Intron|NACA_ENST00000356769.3_Intron|NACA_ENST00000393891.4_Intron|NACA_ENST00000548563.1_Intron NM_001113203.2 NP_001106674.2 Q13765 NACA_HUMAN nascent polypeptide-associated complex alpha subunit 0 interspecies interaction between organisms|protein transport|transcription, DNA-dependent|translation nascent polypeptide-associated complex|nucleus DNA binding breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1) 10 GGAGCCTGTTTGGGTGCTGGAGTAGCT 0.575 T BCL6 NHL 12 47 --- --- --- --- C12orf52 84934 broad.mit.edu 37 12 113629261 113629262 + Frame_Shift_Ins INS - - T TCGA-CV-5441-01A-01D-1512-08 TCGA-CV-5441-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e 79ffab90-e307-45fb-a6ce-0d9aea0b7552 g.chr12:113629261_113629262insT ENST00000548278.1 + 4 1141_1142 c.449_450insT c.(448-450)gagfs p.E150fs C12orf52_ENST00000552495.1_Frame_Shift_Ins_p.E174fs|RP11-545P7.4_ENST00000552525.1_RNA|C12orf52_ENST00000549621.1_Frame_Shift_Ins_p.E150fs NM_032848.1 NP_116237.1 Q96K30 RITA_HUMAN chromosome 12 open reading frame 52 150 Interaction with RBPJ/RBPSUH. negative regulation of Notch signaling pathway|negative regulation of transcription from RNA polymerase II promoter|neurogenesis|Notch signaling pathway|nuclear export centrosome|nucleus tubulin binding large_intestine(2)|lung(1)|prostate(1)|urinary_tract(1) 5 ACCCCCAGGGGTAGCCACTCGC 0.678 8 41 --- --- --- --- CHRNA5 1138 broad.mit.edu 37 15 78878992 78878993 + Frame_Shift_Ins INS - - A TCGA-CV-5441-01A-01D-1512-08 TCGA-CV-5441-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e 79ffab90-e307-45fb-a6ce-0d9aea0b7552 g.chr15:78878992_78878993insA ENST00000299565.5 + 3 464_465 c.264_265insA c.(262-267)gaaaaafs p.EK88fs CHRNA5_ENST00000559554.1_Frame_Shift_Ins_p.EK88fs NM_000745.3 NP_000736.2 P30532 ACHA5_HUMAN cholinergic receptor, nicotinic, alpha 5 (neuronal) 88 behavioral response to nicotine cell junction|postsynaptic membrane acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(1)|ovary(1)|prostate(1)|skin(3) 15 taaaGGATGAGAAAAATCAGTT 0.262 89 115 --- --- --- --- NPIPB15 440348 broad.mit.edu 37 16 74425400 74425402 + In_Frame_Del DEL CAA CAA - TCGA-CV-5441-01A-01D-1512-08 TCGA-CV-5441-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e 79ffab90-e307-45fb-a6ce-0d9aea0b7552 g.chr16:74425400_74425402delCAA ENST00000429990.1 + 7 850_852 c.754_756delCAA c.(754-756)del p.Q253del nuclear pore complex interacting protein family, member B15 TCCTCCAACTCAACAACATTCTA 0.517 7 134 --- --- --- --- SHBG 6462 broad.mit.edu 37 17 7534985 7534985 + Frame_Shift_Del DEL A A - TCGA-CV-5441-01A-01D-1512-08 TCGA-CV-5441-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e 79ffab90-e307-45fb-a6ce-0d9aea0b7552 g.chr17:7534985delA ENST00000380450.4 + 5 665 c.634delA c.(634-636)ctfs p.T212fs SHBG_ENST00000575314.1_Frame_Shift_Del_p.T154fs|SHBG_ENST00000441599.2_Frame_Shift_Del_p.T212fs|SHBG_ENST00000416273.3_Frame_Shift_Del_p.T212fs|SHBG_ENST00000572182.1_Intron|SHBG_ENST00000570547.1_Frame_Shift_Del_p.T154fs|SHBG_ENST00000572262.1_Frame_Shift_Del_p.T100fs|SHBG_ENST00000575903.1_Frame_Shift_Del_p.T194fs|SHBG_ENST00000574539.1_Frame_Shift_Del_p.T154fs|SHBG_ENST00000576478.1_Frame_Shift_Del_p.T100fs|SHBG_ENST00000340624.5_Frame_Shift_Del_p.T154fs|SHBG_ENST00000576728.1_Frame_Shift_Del_p.T100fs NM_001040.3 NP_001031.2 P04278 SHBG_HUMAN sex hormone-binding globulin 212 Laminin G-like 1. hormone transport extracellular region androgen binding|protein homodimerization activity p.0?(1)|p.?(1) cervix(1)|endometrium(2)|large_intestine(4)|lung(2)|skin(1) 10 all_cancers(10;0.0867) READ - Rectum adenocarcinoma(115;0.168) Danazol(DB01406)|Dromostanolone(DB00858)|Estradiol(DB00783)|Estrone(DB00655)|Fluoxymesterone(DB01185)|Hydrocortisone(DB00741)|Mitotane(DB00648)|Norethindrone(DB00717)|Testosterone(DB00624) ATCTGCCCCCACTAGCCTCAG 0.547 7 323 --- --- --- --- ZFR2 23217 broad.mit.edu 37 19 3808936 3808937 + Frame_Shift_Ins INS - - C TCGA-CV-5441-01A-01D-1512-08 TCGA-CV-5441-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e 79ffab90-e307-45fb-a6ce-0d9aea0b7552 g.chr19:3808936_3808937insC ENST00000262961.4 - 17 2488_2489 c.2478_2479insG c.(2476-2481)ggccctfs p.GP826fs NM_015174.1 NP_055989.1 Q9UPR6 ZFR2_HUMAN zinc finger RNA binding protein 2 826 DZF. intracellular nucleic acid binding|zinc ion binding central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(5)|pancreas(1)|prostate(1)|skin(1) 16 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00514)|STAD - Stomach adenocarcinoma(1328;0.19) GGGCCCAGGGGCCCAGCCGCAC 0.698 4 9 --- --- --- --- HMGXB4 10042 broad.mit.edu 37 22 35661544 35661544 + Frame_Shift_Del DEL A A - rs76572304 TCGA-CV-5441-01A-01D-1512-08 TCGA-CV-5441-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e 79ffab90-e307-45fb-a6ce-0d9aea0b7552 g.chr22:35661544delA ENST00000216106.5 + 5 1291 c.1163delA c.(1162-1164)gafs p.E388fs HMGXB4_ENST00000444518.2_Frame_Shift_Del_p.E279fs NM_001003681.2 NP_001003681.1 Q9UGU5 HMGX4_HUMAN HMG box domain containing 4 388 endosome to lysosome transport|negative regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway NURF complex DNA binding breast(1)|endometrium(1)|large_intestine(6)|liver(1)|lung(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 GGGCATAGTGAaaaaaaaaag 0.493 7 102 --- --- --- --- CDC42EP1 11135 broad.mit.edu 37 22 37964376 37964396 + In_Frame_Del DEL CTGCAAACCCCCCAGCCACTA CTGCAAACCCCCCAGCCACTA - rs10427607 by1000genomes TCGA-CV-5441-01A-01D-1512-08 TCGA-CV-5441-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e 79ffab90-e307-45fb-a6ce-0d9aea0b7552 g.chr22:37964376_37964396delCTGCAAACCCCCCAGCCACTA ENST00000249014.4 + 3 1145_1165 c.725_745delCTGCAAACCCCCCAGCCACTA c.(724-747)gct>g p.AANPPATT242del NM_152243.2 NP_689449.1 Q00587 BORG5_HUMAN CDC42 effector protein (Rho GTPase binding) 1 242 8 X 7 AA tandem repeats of [PT]-[AT]-A- [ENT]-[PT]-[PTS]-[AG]. positive regulation of pseudopodium assembly|regulation of cell shape actin cytoskeleton|endomembrane system|Golgi apparatus|plasma membrane protein binding endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(4)|prostate(5) 15 Melanoma(58;0.0574) ACGGGTCCTGCTGCAAACCCCCCAGCCACTACTGCAAACCC 0.674 21 28 --- --- --- --- GGA1 26088 broad.mit.edu 37 22 38028708 38028709 + Frame_Shift_Ins INS - - T TCGA-CV-5441-01A-01D-1512-08 TCGA-CV-5441-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e 79ffab90-e307-45fb-a6ce-0d9aea0b7552 g.chr22:38028708_38028709insT ENST00000406772.1 + 18 2343_2344 c.1691_1692insT c.(1690-1692)gagfs p.E564fs GGA1_ENST00000343632.4_Frame_Shift_Ins_p.E637fs|GGA1_ENST00000337437.4_Frame_Shift_Ins_p.E604fs|GGA1_ENST00000381756.5_Frame_Shift_Ins_p.E654fs|GGA1_ENST00000325180.8_Frame_Shift_Ins_p.E550fs NM_001172688.1 NP_001166159.1 Q9UJY5 GGA1_HUMAN golgi-associated, gamma adaptin ear containing, ARF binding protein 1 637 GAE. intracellular protein transport|vesicle-mediated transport clathrin adaptor complex|endosome membrane|Golgi apparatus part protein binding breast(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|urinary_tract(1) 10 Melanoma(58;0.0574) GAAACCTGGGGTAGCCTCTAGA 0.609 7 21 --- --- --- --- SBF1 6305 broad.mit.edu 37 22 50899572 50899589 + Splice_Site DEL GCGCACCGCGCCCCACCT GCGCACCGCGCCCCACCT - rs115010488 by1000genomes TCGA-CV-5441-01A-01D-1512-08 TCGA-CV-5441-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e 79ffab90-e307-45fb-a6ce-0d9aea0b7552 g.chr22:50899572_50899589delGCGCACCGCGCCCCACCT ENST00000380817.2 - 23 3149_3151 c.2967_splice c.e23+1 p.L990_splice SBF1_ENST00000348911.6_Splice_Site_p.L991_splice|SBF1_ENST00000390679.3_Splice_Site_p.L990_splice NM_002972.2 NP_002963.2 O95248 MTMR5_HUMAN SET binding factor 1 990 protein dephosphorylation integral to membrane|nucleus protein tyrosine/serine/threonine phosphatase activity breast(1)|central_nervous_system(2)|endometrium(6)|kidney(8)|large_intestine(3)|lung(18)|ovary(3)|skin(1)|upper_aerodigestive_tract(1) 43 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;0.206)|LUAD - Lung adenocarcinoma(64;0.247) AGCCCCACCCGCGCACCGCGCCCCACCTGGAATGTGCA 0.624 8 29 --- --- --- --- KDM6A 7403 broad.mit.edu 37 X 44733171 44733172 + Splice_Site INS - - G TCGA-CV-5441-01A-01D-1512-08 TCGA-CV-5441-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e 79ffab90-e307-45fb-a6ce-0d9aea0b7552 g.chrX:44733171_44733172insG ENST00000377967.4 + 2 204_205 c.161_splice c.e2-1 p.P55_splice KDM6A_ENST00000543216.1_Splice_Site_p.P55_splice|KDM6A_ENST00000382899.4_Splice_Site_p.P55_splice|KDM6A_ENST00000536777.1_Splice_Site_p.P55_splice NM_021140.2 NP_066963.2 O15550 KDM6A_HUMAN lysine (K)-specific demethylase 6A 55 histone H3-K4 methylation metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen p.0(8)|p.0?(6) NS(1)|breast(7)|central_nervous_system(27)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(24)|kidney(24)|large_intestine(9)|liver(1)|lung(21)|oesophagus(11)|pancreas(2)|prostate(5)|skin(1)|soft_tissue(1)|urinary_tract(29) 170 TCTCCACAGCCGCCTCTTTGGG 0.649 """D, N, F, S""" """renal, oesophageal SCC, MM""" 20 10 --- --- --- ---