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 GPR21 2844 broad.mit.edu 37 9 125797765 125797765 + Missense_Mutation SNP C C T TCGA-FZ-5921-01A-11D-1609-08 TCGA-FZ-5921-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f bb5bc26c-759d-45eb-b733-3157252f6716 g.chr9:125797765C>T ENST00000373642.1 + 1 960 c.920C>T c.(919-921)tCc>tTc p.S307F RABGAP1_ENST00000493854.1_Intron|RABGAP1_ENST00000373647.4_Intron|RABGAP1_ENST00000373643.5_Intron NM_005294.1 NP_005285.1 Q99679 GPR21_HUMAN G protein-coupled receptor 21 307 integral to plasma membrane G-protein coupled receptor activity endometrium(3)|large_intestine(3)|lung(4)|ovary(1)|skin(1)|stomach(1)|urinary_tract(2) 15 TATAGTCTCTCCAACAGTGTA 0.473000 58 327 0 0 1 0 0 ACKR6 0 broad.mit.edu 37 17 6364736 6364736 + Missense_Mutation SNP G G A TCGA-FZ-5921-01A-11D-1609-08 TCGA-FZ-5921-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f bb5bc26c-759d-45eb-b733-3157252f6716 g.chr17:6364736G>A ENST00000262483.8 - 18 2534 c.2447C>T c.(2446-2448)cCg>cTg p.P816L ACKR6_ENST00000421306.3_Missense_Mutation_p.P780L|ACKR6_ENST00000576664.1_5'UTR NM_031220.3 NP_112497.2 CTGCCGCAGCGGGTCATGCAC 0.637000 36 535 0 0 1 0 0 EN1 2019 broad.mit.edu 37 2 119600717 119600717 + Missense_Mutation SNP G G A TCGA-FZ-5921-01A-11D-1609-08 TCGA-FZ-5921-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f bb5bc26c-759d-45eb-b733-3157252f6716 g.chr2:119600717G>A ENST00000295206.6 - 2 1486 c.976C>T c.(976-978)Cgc>Tgc p.R326C NM_001426.3 NP_001417.3 Q05925 HME1_HUMAN engrailed homeobox 1 326 skeletal system development nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity endometrium(1)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(1) 9 GTGATGTAGCGGTTTGCCTGG 0.597000 11 119 0 0 1 0 0 C19orf40 91442 broad.mit.edu 37 19 33467438 33467438 + Silent SNP C C T TCGA-FZ-5921-01A-11D-1609-08 TCGA-FZ-5921-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f bb5bc26c-759d-45eb-b733-3157252f6716 g.chr19:33467438C>T ENST00000588258.1 + 5 608 c.498C>T c.(496-498)atC>atT p.I166I C19orf40_ENST00000589646.1_Silent_p.I71I|C19orf40_ENST00000590179.1_Silent_p.I71I|C19orf40_ENST00000590281.1_Silent_p.I166I NM_152266.3 NP_689479.1 Q9BTP7 FAP24_HUMAN chromosome 19 open reading frame 40 166 RuvA domain 2-like. DNA repair Fanconi anaemia nuclear complex chromatin binding|DNA binding|protein binding endometrium(1)|large_intestine(2)|lung(2)|prostate(2) 7 Esophageal squamous(110;0.137) TGCAGCAGATCCCAGGAGTTG 0.532000 Direct reversal of damage OREG0025408 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 94 583 0 0 1 0 0 CRB2 286204 broad.mit.edu 37 9 126133673 126133673 + Missense_Mutation SNP T T A TCGA-FZ-5921-01A-11D-1609-08 TCGA-FZ-5921-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f bb5bc26c-759d-45eb-b733-3157252f6716 g.chr9:126133673T>A ENST00000373631.3 + 8 2253 c.2252T>A c.(2251-2253)cTc>cAc p.L751H CRB2_ENST00000359999.3_Missense_Mutation_p.L751H|CRB2_ENST00000373629.2_Missense_Mutation_p.L419H NM_173689.5 NP_775960.4 Q5IJ48 CRUM2_HUMAN crumbs homolog 2 (Drosophila) 751 Laminin G-like 2. extracellular region|integral to membrane|plasma membrane calcium ion binding NS(2)|breast(1)|cervix(1)|endometrium(2)|lung(11)|ovary(1)|prostate(2)|skin(3) 23 GGTGGGAGGCTCCTTGCTGCC 0.682000 45 443 0 0 1 0 0 ATP10A 57194 broad.mit.edu 37 15 25924728 25924728 + Silent SNP G G T TCGA-FZ-5921-01A-11D-1609-08 TCGA-FZ-5921-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f bb5bc26c-759d-45eb-b733-3157252f6716 g.chr15:25924728G>T ENST00000356865.6 - 21 4371 c.4260C>A c.(4258-4260)acC>acA p.T1420T NM_024490.3 NP_077816.1 O60312 AT10A_HUMAN ATPase, class V, type 10A 1420 ATP biosynthetic process|regulation of cell shape integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2) 103 all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125) all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244) TCACCCTGCCGGTGCTGGCAG 0.642000 56 266 6.56871e-35 7.05693e-35 1 1 0 MCM10 55388 broad.mit.edu 37 10 13234464 13234464 + Silent SNP C C T TCGA-FZ-5921-01A-11D-1609-08 TCGA-FZ-5921-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f bb5bc26c-759d-45eb-b733-3157252f6716 g.chr10:13234464C>T ENST00000378694.1 + 12 1716 c.1641C>T c.(1639-1641)agC>agT p.S547S MCM10_ENST00000378714.3_Silent_p.S547S|MCM10_ENST00000484800.2_Silent_p.S548S Q7L590 MCM10_HUMAN minichromosome maintenance complex component 10 548 cell cycle checkpoint|DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle nucleoplasm metal ion binding|protein binding central_nervous_system(1)|large_intestine(4)|ovary(2)|skin(1)|stomach(1) 9 TTATGGGGAGCCCAAAACCAG 0.542000 29 322 0 0 1 0 0 DPPA4 55211 broad.mit.edu 37 3 109050853 109050853 + Silent SNP C C T TCGA-FZ-5921-01A-11D-1609-08 TCGA-FZ-5921-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f bb5bc26c-759d-45eb-b733-3157252f6716 g.chr3:109050853C>T ENST00000335658.6 - 3 258 c.204G>A c.(202-204)gaG>gaA p.E68E DPPA4_ENST00000478791.1_5'UTR NM_018189.3 NP_060659.3 Q7L190 DPPA4_HUMAN developmental pluripotency associated 4 68 nucleus protein binding central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(17)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 25 TGTCAGTGTGCTCTGCCTTTT 0.423000 47 562 0 0 1 0 0 NOS1 4842 broad.mit.edu 37 12 117662844 117662844 + Missense_Mutation SNP C C T TCGA-FZ-5921-01A-11D-1609-08 TCGA-FZ-5921-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f bb5bc26c-759d-45eb-b733-3157252f6716 g.chr12:117662844C>T ENST00000317775.6 - 25 4488 c.3803G>A c.(3802-3804)cGg>cAg p.R1268Q NOS1_ENST00000338101.4_Missense_Mutation_p.R1302Q|NOS1_ENST00000344089.3_3'UTR NM_000620.4|NM_001204218.1 NP_000611.1|NP_001191147.1 P29475 NOS1_HUMAN nitric oxide synthase 1 (neuronal) 1268 multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 117 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) BRCA - Breast invasive adenocarcinoma(302;0.0561) L-Citrulline(DB00155) ATCAAATTGCCGCTGTTGCCA 0.607000 116 1115 0 0 1 0 0 OR2H2 7932 broad.mit.edu 37 6 29555744 29555744 + Missense_Mutation SNP C C T TCGA-FZ-5921-01A-11D-1609-08 TCGA-FZ-5921-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f bb5bc26c-759d-45eb-b733-3157252f6716 g.chr6:29555744C>T ENST00000383640.2 + 1 62 c.23C>T c.(22-24)cCg>cTg p.P8L GABBR1_ENST00000355973.3_Intron NM_007160.3 NP_009091.3 O95918 OR2H2_HUMAN olfactory receptor, family 2, subfamily H, member 2 8 defense response|mating|sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(7)|prostate(1)|urinary_tract(1) 14 AGCTCCACACCGGGCTTCCTC 0.522000 6 509 0 0 1 0 0 DMRT3 58524 broad.mit.edu 37 9 990482 990482 + Missense_Mutation SNP C C T TCGA-FZ-5921-01A-11D-1609-08 TCGA-FZ-5921-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f bb5bc26c-759d-45eb-b733-3157252f6716 g.chr9:990482C>T ENST00000190165.2 + 2 934 c.896C>T c.(895-897)tCc>tTc p.S299F NM_021240.2 NP_067063.1 Q9NQL9 DMRT3_HUMAN doublesex and mab-3 related transcription factor 3 299 cell differentiation|multicellular organismal development|sex differentiation nucleus DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1) 26 all_lung(10;1.39e-08)|Lung NSC(10;1.42e-08) Lung(218;0.0196) GAGCGAACTTCCGCAGAACCT 0.577000 25 350 0 0 1 0 0 OR2L2 26246 broad.mit.edu 37 1 248201829 248201829 + Missense_Mutation SNP G G A TCGA-FZ-5921-01A-11D-1609-08 TCGA-FZ-5921-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f bb5bc26c-759d-45eb-b733-3157252f6716 g.chr1:248201829G>A ENST00000366479.2 + 1 356 c.260G>A c.(259-261)gGa>gAa p.G87E OR2L13_ENST00000366478.2_Intron NM_001004686.2 NP_001004686.1 Q8NH16 OR2L2_HUMAN olfactory receptor, family 2, subfamily L, member 2 87 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) tttctgtatggaaacaagtct 0.418000 81 897 0 0 1 0 0 SPTLC3 55304 broad.mit.edu 37 20 13098235 13098235 + Missense_Mutation SNP C C T TCGA-FZ-5921-01A-11D-1609-08 TCGA-FZ-5921-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f bb5bc26c-759d-45eb-b733-3157252f6716 g.chr20:13098235C>T ENST00000399002.2 + 8 1289 c.1015C>T c.(1015-1017)Cac>Tac p.H339Y SPTLC3_ENST00000378194.4_Intron NM_018327.2 NP_060797.2 Q9NUV7 SPTC3_HUMAN serine palmitoyltransferase, long chain base subunit 3 339 sphingoid biosynthetic process integral to membrane|serine C-palmitoyltransferase complex pyridoxal phosphate binding|serine C-palmitoyltransferase activity|transferase activity, transferring nitrogenous groups breast(1)|endometrium(1)|large_intestine(7)|lung(14)|skin(1)|urinary_tract(1) 25 Pyridoxal Phosphate(DB00114) AGATGAAGCTCACAGTATTGG 0.507000 52 762 0 0 1 0 0 OPN1LW 5956 broad.mit.edu 37 X 153416268 153416268 + Missense_Mutation SNP C C T TCGA-FZ-5921-01A-11D-1609-08 TCGA-FZ-5921-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f bb5bc26c-759d-45eb-b733-3157252f6716 g.chrX:153416268C>T ENST00000369951.4 + 2 313 c.253C>T c.(253-255)Cgc>Tgc p.R85C OPN1LW_ENST00000463296.1_3'UTR NM_020061.4 NP_064445.1 P04000 OPSR_HUMAN opsin 1 (cone pigments), long-wave-sensitive 85 phototransduction|protein-chromophore linkage|visual perception integral to plasma membrane G-protein coupled receptor activity|photoreceptor activity endometrium(3)|large_intestine(2)|lung(8)|ovary(1)|skin(1) 15 all_cancers(53;1.83e-16)|all_epithelial(53;2.73e-10)|all_lung(58;6.39e-07)|Lung NSC(58;8.37e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176) CAAGAAGCTGCGCCACCCGCT 0.562000 21 333 0 0 1 0 0 SNRPB 6628 broad.mit.edu 37 20 2442419 2442419 + Missense_Mutation SNP G G A TCGA-FZ-5921-01A-11D-1609-08 TCGA-FZ-5921-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f bb5bc26c-759d-45eb-b733-3157252f6716 g.chr20:2442419G>A ENST00000438552.2 - 7 868 c.706C>T c.(706-708)Cgc>Tgc p.R236C SNRPB_ENST00000381342.2_3'UTR NM_198216.1 NP_937859.1 P14678 RSMB_HUMAN small nuclear ribonucleoprotein polypeptides B and B1 236 Repeat-rich region. histone mRNA metabolic process|ncRNA metabolic process|spliceosomal snRNP assembly|termination of RNA polymerase II transcription catalytic step 2 spliceosome|cytosol|nucleoplasm|U12-type spliceosomal complex|U7 snRNP protein binding|RNA binding kidney(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1)|urinary_tract(1) 10 CTTGGTGGGCGCATTCCCGGG 0.547000 5 393 0 0 1 0 0 EPS8 0 broad.mit.edu 37 12 15818756 15818756 + Missense_Mutation SNP C C T TCGA-FZ-5921-01A-11D-1609-08 TCGA-FZ-5921-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f bb5bc26c-759d-45eb-b733-3157252f6716 g.chr12:15818756C>T ENST00000281172.5 - 8 1106 c.670G>A c.(670-672)Gtc>Atc p.V224I EPS8_ENST00000543612.1_Missense_Mutation_p.V224I|EPS8_ENST00000543523.1_Missense_Mutation_p.V224I NM_004447.5 NP_004438.3 Q12929 EPS8_HUMAN epidermal growth factor receptor pathway substrate 8 224 cell proliferation|epidermal growth factor receptor signaling pathway SH3/SH2 adaptor activity NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 33 all_epithelial(100;1.87e-05)|Breast(259;0.000286)|Hepatocellular(102;0.244) BRCA - Breast invasive adenocarcinoma(232;4.29e-05)|GBM - Glioblastoma multiforme(207;0.0264) ACCTGGGTGACGGTCCCAGGG 0.502000 6 397 0 0 1 0 0 TPTE2P6 0 broad.mit.edu 37 13 25168432 25168432 + RNA SNP T T C rs149337771 by1000genomes TCGA-FZ-5921-01A-11D-1609-08 TCGA-FZ-5921-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f bb5bc26c-759d-45eb-b733-3157252f6716 g.chr13:25168432T>C ENST00000453498.1 + 0 1104 TTGAAACAGCTGGTGTATTAA 0.373000 3 91 0 0 1 0 0 GABRB2 0 broad.mit.edu 37 5 160886675 160886675 + Missense_Mutation SNP C C T TCGA-FZ-5921-01A-11D-1609-08 TCGA-FZ-5921-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f bb5bc26c-759d-45eb-b733-3157252f6716 g.chr5:160886675C>T ENST00000274547.2 - 5 630 c.413G>A c.(412-414)cGc>cAc p.R138H GABRB2_ENST00000520240.1_Missense_Mutation_p.R138H|GABRB2_ENST00000393959.1_Missense_Mutation_p.R138H|GABRB2_ENST00000353437.6_Missense_Mutation_p.R138H|GABRB2_ENST00000517547.1_Intron|GABRB2_ENST00000517901.1_Missense_Mutation_p.R75H NM_000813.2|NM_021911.2 NP_000804.1|NP_068711.1 P47870 GBRB2_HUMAN gamma-aminobutyric acid (GABA) A receptor, beta 2 138 gamma-aminobutyric acid signaling pathway|synaptic transmission cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane chloride channel activity|GABA-A receptor activity breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(9)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 26 Renal(175;0.00259) Medulloblastoma(196;0.021)|all_neural(177;0.0463) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683) GCGAATCATGCGGTTCTTAAC 0.448000 4 153 0 0 1 0 0 HOXA7 3204 broad.mit.edu 37 7 27196029 27196029 + Missense_Mutation SNP C C T TCGA-FZ-5921-01A-11D-1609-08 TCGA-FZ-5921-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f bb5bc26c-759d-45eb-b733-3157252f6716 g.chr7:27196029C>T ENST00000242159.3 - 1 269 c.136G>A c.(136-138)Gcc>Acc p.A46T NM_006896.3 NP_008827.2 P31268 HXA7_HUMAN homeobox A7 46 angiogenesis|negative regulation of cell-matrix adhesion|negative regulation of keratinocyte differentiation|negative regulation of leukocyte migration|negative regulation of monocyte differentiation|negative regulation of transcription from RNA polymerase II promoter sequence-specific DNA binding|transcription factor binding p.A46P(2) endometrium(3)|large_intestine(1)|lung(10)|prostate(1)|urinary_tract(1) 16 GAGGCGAAGGCGCCGGCGCCC 0.622000 120 434 0 0 1 0 0 C16orf46 123775 broad.mit.edu 37 16 81095234 81095234 + Silent SNP C C G TCGA-FZ-5921-01A-11D-1609-08 TCGA-FZ-5921-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f bb5bc26c-759d-45eb-b733-3157252f6716 g.chr16:81095234C>G ENST00000378611.4 - 3 835 c.720G>C c.(718-720)gtG>gtC p.V240V C16orf46_ENST00000299578.5_Silent_p.V240V|RP11-303E16.8_ENST00000564536.1_RNA NM_001100873.1 NP_001094343.1 Q6P387 CP046_HUMAN chromosome 16 open reading frame 46 240 NS(1)|endometrium(2)|large_intestine(3)|lung(9)|prostate(1)|stomach(1)|urinary_tract(1) 18 CCACATCCAGCACCTTCTCTT 0.473000 68 809 0 0 1 0 0 PFKFB4 5210 broad.mit.edu 37 3 48587623 48587623 + Missense_Mutation SNP G G A TCGA-FZ-5921-01A-11D-1609-08 TCGA-FZ-5921-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f bb5bc26c-759d-45eb-b733-3157252f6716 g.chr3:48587623G>A ENST00000232375.3 - 2 254 c.142C>T c.(142-144)Ccc>Tcc p.P48S PFKFB4_ENST00000541519.1_Missense_Mutation_p.P14S|PFKFB4_ENST00000536104.1_Missense_Mutation_p.P37S|PFKFB4_ENST00000490115.1_5'UTR|PFKFB4_ENST00000383734.2_Missense_Mutation_p.P48S|PFKFB4_ENST00000545984.1_Missense_Mutation_p.P48S|PFKFB4_ENST00000416568.1_Missense_Mutation_p.P48S NM_004567.2 NP_004558.1 Q16877 F264_HUMAN 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 4 48 6-phosphofructo-2-kinase. fructose 2,6-bisphosphate metabolic process|glycolysis cytosol 6-phosphofructo-2-kinase activity|ATP binding|fructose-2,6-bisphosphate 2-phosphatase activity breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|urinary_tract(1) 14 BRCA - Breast invasive adenocarcinoma(193;0.0003)|KIRC - Kidney renal clear cell carcinoma(197;0.00596)|Kidney(197;0.00684) CCCCTGGCGGGCAGGCCCACC 0.597000 5 276 0 0 1 0 0 GPR133 283383 broad.mit.edu 37 12 131621519 131621519 + Splice_Site SNP G G T TCGA-FZ-5921-01A-11D-1609-08 TCGA-FZ-5921-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f bb5bc26c-759d-45eb-b733-3157252f6716 g.chr12:131621519G>T ENST00000261654.5 + 23 2955 c.2394_splice c.e23-1 p.G799_splice GPR133_ENST00000376682.4_Splice_Site_p.G485_splice|GPR133_ENST00000543617.1_Splice_Site_p.G318_splice|GPR133_ENST00000535015.1_Splice_Site_p.G831_splice|GPR133_ENST00000540207.1_3'UTR NM_198827.3 NP_942122.2 Q6QNK2 GP133_HUMAN G protein-coupled receptor 133 799 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity NS(2)|breast(2)|endometrium(6)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|pancreas(6)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4) 67 all_neural(191;0.0982)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06) TCTTCCCAGGGACTGTTCATA 0.532000 13 274 7.07758e-08 7.35513e-08 1 1 0 PCIF1 63935 broad.mit.edu 37 20 44574946 44574946 + Silent SNP C C T TCGA-FZ-5921-01A-11D-1609-08 TCGA-FZ-5921-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f bb5bc26c-759d-45eb-b733-3157252f6716 g.chr20:44574946C>T ENST00000372409.3 + 14 1900 c.1536C>T c.(1534-1536)ttC>ttT p.F512F PCIF1_ENST00000479348.1_3'UTR NM_022104.3 NP_071387.1 Q9H4Z3 PCIF1_HUMAN PDX1 C-terminal inhibiting factor 1 512 nucleus central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 20 TCGAGTGCTTCGCCTCACCCC 0.642000 48 670 0 0 1 0 0 POLR3B 55703 broad.mit.edu 37 12 106820987 106820987 + Missense_Mutation SNP C C T TCGA-FZ-5921-01A-11D-1609-08 TCGA-FZ-5921-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f bb5bc26c-759d-45eb-b733-3157252f6716 g.chr12:106820987C>T ENST00000228347.4 + 13 1336 c.1114C>T c.(1114-1116)Ctt>Ttt p.L372F POLR3B_ENST00000549195.1_3'UTR|POLR3B_ENST00000539066.1_Missense_Mutation_p.L314F NM_018082.5 NP_060552.4 Q9NW08 RPC2_HUMAN polymerase (RNA) III (DNA directed) polypeptide B 372 innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter nucleoplasm DNA binding|DNA-directed RNA polymerase activity|metal ion binding|ribonucleoside binding p.L372F(2) breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(22)|ovary(1)|prostate(3)|skin(3)|urinary_tract(2) 57 TTTATCTCTTCTTTTTGAAGA 0.274000 14 80 0 0 1 0 0 ARMC5 79798 broad.mit.edu 37 16 31474214 31474214 + Missense_Mutation SNP A A G TCGA-FZ-5921-01A-11D-1609-08 TCGA-FZ-5921-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f bb5bc26c-759d-45eb-b733-3157252f6716 g.chr16:31474214A>G ENST00000457010.2 + 3 2047 c.1346A>G c.(1345-1347)cAg>cGg p.Q449R ARMC5_ENST00000538189.1_Missense_Mutation_p.Q481R|ARMC5_ENST00000412665.2_Missense_Mutation_p.Q93R|ARMC5_ENST00000408912.3_Missense_Mutation_p.Q544R|ARMC5_ENST00000268314.4_Missense_Mutation_p.Q449R|ARMC5_ENST00000563544.1_Missense_Mutation_p.Q449R NM_024742.2 NP_079018.1 Q96C12 ARMC5_HUMAN armadillo repeat containing 5 449 binding central_nervous_system(1)|endometrium(4)|large_intestine(3)|liver(2)|lung(12)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 28 GAGCGGGCACAGGGTGGAAGC 0.607000 3 101 0 0 1 0 0 ITGA11 22801 broad.mit.edu 37 15 68612671 68612671 + Missense_Mutation SNP G G A TCGA-FZ-5921-01A-11D-1609-08 TCGA-FZ-5921-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f bb5bc26c-759d-45eb-b733-3157252f6716 g.chr15:68612671G>A ENST00000423218.2 - 20 2563 c.2468C>T c.(2467-2469)tCc>tTc p.S823F ITGA11_ENST00000315757.7_Missense_Mutation_p.S823F Q9UKX5 ITA11_HUMAN integrin, alpha 11 823 cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development integrin complex collagen binding|receptor activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(6)|lung(22)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 52 Tirofiban(DB00775) GGTGTCGAAGGACAGCGTGTA 0.592000 11 88 0 0 1 0 0 SELP 6403 broad.mit.edu 37 1 169586589 169586589 + Nonsense_Mutation SNP C C T TCGA-FZ-5921-01A-11D-1609-08 TCGA-FZ-5921-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f bb5bc26c-759d-45eb-b733-3157252f6716 g.chr1:169586589C>T ENST00000263686.6 - 3 195 c.158G>A c.(157-159)tGg>tAg p.W53* SELP_ENST00000367788.2_Nonsense_Mutation_p.W53*|SELP_ENST00000367794.2_Nonsense_Mutation_p.W53*|SELP_ENST00000367791.2_Nonsense_Mutation_p.W53*|SELP_ENST00000367792.2_Nonsense_Mutation_p.W53*|SELP_ENST00000458599.2_Nonsense_Mutation_p.W53*|SELP_ENST00000367786.2_Nonsense_Mutation_p.W53*|SELP_ENST00000367793.2_Nonsense_Mutation_p.W53* NM_003005.3 NP_002996.2 P16109 LYAM3_HUMAN selectin P (granule membrane protein 140kDa, antigen CD62) 53 platelet activation|platelet degranulation|positive regulation of platelet activation external side of plasma membrane|extracellular space|integral to plasma membrane|membrane fraction|platelet alpha granule membrane|platelet dense granule membrane|soluble fraction fucose binding|glycosphingolipid binding|heparin binding|lipopolysaccharide binding|oligosaccharide binding|sialic acid binding breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(32)|ovary(4)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 60 all_hematologic(923;0.208) Clopidogrel(DB00758)|Heparin(DB01109)|Tirofiban(DB00775) GGAAATATTCCATGAGTATGC 0.413000 48 615 0 0 1 0 0 GALNS 2588 broad.mit.edu 37 16 88908313 88908313 + Missense_Mutation SNP G G A TCGA-FZ-5921-01A-11D-1609-08 TCGA-FZ-5921-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f bb5bc26c-759d-45eb-b733-3157252f6716 g.chr16:88908313G>A ENST00000268695.5 - 3 399 c.311C>T c.(310-312)gCc>gTc p.A104V GALNS_ENST00000542788.1_Intron|GALNS_ENST00000565364.1_5'UTR NM_000512.4 NP_000503.1 P34059 GALNS_HUMAN galactosamine (N-acetyl)-6-sulfate sulfatase 104 lysosome metal ion binding|N-acetylgalactosamine-4-sulfatase activity|N-acetylgalactosamine-6-sulfatase activity breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(8) 22 BRCA - Breast invasive adenocarcinoma(80;0.0496) Hyaluronidase(DB00070) ACCGTTTCTGGCATGGGCGTT 0.632000 3 89 0 0 1 0 0 PYHIN1 149628 broad.mit.edu 37 1 158908939 158908939 + Missense_Mutation SNP C C T TCGA-FZ-5921-01A-11D-1609-08 TCGA-FZ-5921-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f bb5bc26c-759d-45eb-b733-3157252f6716 g.chr1:158908939C>T ENST00000368140.1 + 4 726 c.481C>T c.(481-483)Cct>Tct p.P161S PYHIN1_ENST00000392252.3_Missense_Mutation_p.P152S|PYHIN1_ENST00000368135.4_Missense_Mutation_p.P161S|PYHIN1_ENST00000368138.3_Missense_Mutation_p.P152S|PYHIN1_ENST00000392254.2_Missense_Mutation_p.P161S NM_152501.4|NM_198928.4|NM_198929.4 NP_689714.2|NP_945146.1|NP_945147.1 Q6K0P9 IFIX_HUMAN pyrin and HIN domain family, member 1 161 cell cycle nuclear speck breast(2)|endometrium(3)|large_intestine(10)|lung(32)|ovary(3)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 60 all_hematologic(112;0.0378) GCAGACTCGGCCTTCCTGCTC 0.483000 45 273 0 0 1 0 0 SACS 26278 broad.mit.edu 37 13 23910739 23910739 + Nonsense_Mutation SNP G G A TCGA-FZ-5921-01A-11D-1609-08 TCGA-FZ-5921-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f bb5bc26c-759d-45eb-b733-3157252f6716 g.chr13:23910739G>A ENST00000382298.3 - 10 7864 c.7276C>T c.(7276-7278)Cga>Tga p.R2426* SACS_ENST00000402364.1_Nonsense_Mutation_p.R1676*|SACS_ENST00000382292.3_Nonsense_Mutation_p.R2426* NM_014363.4 NP_055178.3 Q9NZJ4 SACS_HUMAN spastic ataxia of Charlevoix-Saguenay (sacsin) 2426 cell death|negative regulation of inclusion body assembly|protein folding axon|cell body fiber|dendrite|mitochondrion|nucleus ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11) 189 all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128) all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189) CTGATTATTCGTCGGCAAAGC 0.333000 51 183 0 0 1 0 0 SH3TC1 54436 broad.mit.edu 37 4 8214499 8214499 + Missense_Mutation SNP C C T TCGA-FZ-5921-01A-11D-1609-08 TCGA-FZ-5921-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f bb5bc26c-759d-45eb-b733-3157252f6716 g.chr4:8214499C>T ENST00000539824.1 + 4 465 c.91C>T c.(91-93)Cgg>Tgg p.R31W SH3TC1_ENST00000245105.3_Missense_Mutation_p.R107W Q8TE82 S3TC1_HUMAN SH3 domain and tetratricopeptide repeats 1 107 binding NS(1)|breast(3)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 33 GCAGACCCTCCGGGGCCAGCT 0.677000 14 121 0 0 1 0 0 PARVB 29780 broad.mit.edu 37 22 44559756 44559756 + Missense_Mutation SNP G G A TCGA-FZ-5921-01A-11D-1609-08 TCGA-FZ-5921-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f bb5bc26c-759d-45eb-b733-3157252f6716 g.chr22:44559756G>A ENST00000338758.6 + 12 1027 c.964G>A c.(964-966)Gcc>Acc p.A322T PARVB_ENST00000404989.1_Missense_Mutation_p.A285T|PARVB_ENST00000406477.3_Missense_Mutation_p.A355T NM_013327.4 NP_037459.2 Q9HBI1 PARVB_HUMAN parvin, beta 322 CH 2. cell adhesion|cell junction assembly cytoskeleton|cytosol|focal adhesion actin binding p.A355T(1) NS(1)|breast(1)|endometrium(3)|large_intestine(7)|lung(8)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1) 25 Ovarian(80;0.0246)|all_neural(38;0.0423) TGTGTCCTTCGCCTTTGAGCT 0.627000 30 321 0 0 1 0 0 CR1 1378 broad.mit.edu 37 1 207787753 207787753 + Nonsense_Mutation SNP C C T rs55749440 TCGA-FZ-5921-01A-11D-1609-08 TCGA-FZ-5921-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f bb5bc26c-759d-45eb-b733-3157252f6716 g.chr1:207787753C>T ENST00000367049.4 + 40 6580 c.6580C>T c.(6580-6582)Cga>Tga p.R2194* CR1_ENST00000400960.2_Nonsense_Mutation_p.R1744*|CR1_ENST00000367053.1_Nonsense_Mutation_p.R1744*|CR1_ENST00000367051.1_Nonsense_Mutation_p.R1744*|CR1_ENST00000367052.1_Nonsense_Mutation_p.R1744* NM_000651.4 NP_000642.3 P17927 CR1_HUMAN complement component (3b/4b) receptor 1 (Knops blood group) 1744 complement activation, classical pathway|innate immune response integral to plasma membrane complement receptor activity p.R1749*(9)|p.R2194*(9)|p.R1744*(1) NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 82 CTTTAGGTTCCGATTAAAAGG 0.423000 4 184 0 0 1 0 0 GGA2 23062 broad.mit.edu 37 16 23480293 23480293 + Missense_Mutation SNP C C T TCGA-FZ-5921-01A-11D-1609-08 TCGA-FZ-5921-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f bb5bc26c-759d-45eb-b733-3157252f6716 g.chr16:23480293C>T ENST00000309859.4 - 16 1727 c.1645G>A c.(1645-1647)Gca>Aca p.A549T GGA2_ENST00000567468.1_Intron NM_015044.4 NP_055859.1 Q9UJY4 GGA2_HUMAN golgi-associated, gamma adaptin ear containing, ARF binding protein 2 549 GAE. intracellular protein transport|vesicle-mediated transport clathrin adaptor complex|clathrin-coated vesicle|endosome membrane|trans-Golgi network ADP-ribosylation factor binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(4)|ovary(1) 21 GBM - Glioblastoma multiforme(48;0.0386) GAGCTGGATGCCGGCTGCAGC 0.493000 5 273 0 0 1 0 0 HEPHL1 341208 broad.mit.edu 37 11 93836096 93836096 + Silent SNP T T C TCGA-FZ-5921-01A-11D-1609-08 TCGA-FZ-5921-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f bb5bc26c-759d-45eb-b733-3157252f6716 g.chr11:93836096T>C ENST00000315765.9 + 15 2600 c.2592T>C c.(2590-2592)taT>taC p.Y864Y NM_001098672.1 NP_001092142.1 Q6MZM0 HPHL1_HUMAN hephaestin-like 1 864 Plastocyanin-like 5. copper ion transport integral to membrane copper ion binding|oxidoreductase activity NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 61 Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824) TAAAAACTTATAGATGGAATA 0.328000 20 197 0 0 1 0 0 TNKS1BP1 85456 broad.mit.edu 37 11 57088170 57088170 + Missense_Mutation SNP T T G TCGA-FZ-5921-01A-11D-1609-08 TCGA-FZ-5921-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f bb5bc26c-759d-45eb-b733-3157252f6716 g.chr11:57088170T>G ENST00000532437.1 - 2 422 c.111A>C c.(109-111)aaA>aaC p.K37N TNKS1BP1_ENST00000358252.3_Missense_Mutation_p.K37N Q9C0C2 TB182_HUMAN tankyrase 1 binding protein 1, 182kDa 37 Arg/Glu/Lys/Pro-rich (charged). nuclear-transcribed mRNA poly(A) tail shortening|telomere maintenance via telomerase cytoskeleton|cytosol|nuclear telomeric heterochromatin ankyrin binding|enzyme binding breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 64 all_epithelial(135;0.21) TGACAGGGGGTTTGGCCCGAG 0.622000 4 123 0 0 1 0 0 NPY2R 4887 broad.mit.edu 37 4 156135406 156135406 + Silent SNP G G A rs148709959 byFrequency TCGA-FZ-5921-01A-11D-1609-08 TCGA-FZ-5921-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f bb5bc26c-759d-45eb-b733-3157252f6716 g.chr4:156135406G>A ENST00000329476.3 + 2 804 c.315G>A c.(313-315)ccG>ccA p.P105P NPY2R_ENST00000506608.1_Silent_p.P105P NM_000910.2 NP_000901.1 P49146 NPY2R_HUMAN neuropeptide Y receptor Y2 105 cardiac left ventricle morphogenesis|inhibition of adenylate cyclase activity by G-protein signaling pathway|locomotory behavior|outflow tract morphogenesis integral to plasma membrane calcium channel regulator activity breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(17)|prostate(1)|skin(5)|urinary_tract(1) 36 all_hematologic(180;0.24) Renal(120;0.0854) TGTGTCTACCGTTCACTCTTA 0.493000 21 246 0 0 1 0 0 PLCD3 113026 broad.mit.edu 37 17 43194110 43194110 + Silent SNP G G A TCGA-FZ-5921-01A-11D-1609-08 TCGA-FZ-5921-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f bb5bc26c-759d-45eb-b733-3157252f6716 g.chr17:43194110G>A ENST00000322765.5 - 8 1415 c.1302C>T c.(1300-1302)tgC>tgT p.C434C PLCD3_ENST00000540511.1_5'UTR NM_133373.3 NP_588614.1 Q8N3E9 PLCD3_HUMAN phospholipase C, delta 3 434 PI-PLC X-box. intracellular signal transduction|lipid catabolic process cleavage furrow|cytoplasm|membrane calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity p.C434C(2) breast(2)|endometrium(2)|large_intestine(3)|lung(5)|prostate(1)|stomach(2)|urinary_tract(2) 17 Phosphatidylserine(DB00144) GCTCCAGCCCGCAGTGGTTCT 0.647000 24 270 0 0 1 0 0 GFRA2 2675 broad.mit.edu 37 8 21560393 21560393 + Missense_Mutation SNP G G A TCGA-FZ-5921-01A-11D-1609-08 TCGA-FZ-5921-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f bb5bc26c-759d-45eb-b733-3157252f6716 g.chr8:21560393G>A ENST00000524240.1 - 7 1792 c.1142C>T c.(1141-1143)aCg>aTg p.T381M GFRA2_ENST00000400782.4_Missense_Mutation_p.T276M|GFRA2_ENST00000518077.1_Missense_Mutation_p.T248M|GFRA2_ENST00000517328.1_Missense_Mutation_p.T381M NM_001495.4 NP_001486.4 O00451 GFRA2_HUMAN GDNF family receptor alpha 2 381 anchored to membrane|extrinsic to membrane|plasma membrane glial cell-derived neurotrophic factor receptor activity NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|prostate(1)|skin(1) 7 Colorectal(74;0.0189)|COAD - Colon adenocarcinoma(73;0.0727) CAAAGAAGGCGTCTTCTCCAC 0.627000 17 76 0 0 1 0 0 DMRT3 58524 broad.mit.edu 37 9 990182 990182 + Missense_Mutation SNP C C T TCGA-FZ-5921-01A-11D-1609-08 TCGA-FZ-5921-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f bb5bc26c-759d-45eb-b733-3157252f6716 g.chr9:990182C>T ENST00000190165.2 + 2 634 c.596C>T c.(595-597)tCc>tTc p.S199F NM_021240.2 NP_067063.1 Q9NQL9 DMRT3_HUMAN doublesex and mab-3 related transcription factor 3 199 cell differentiation|multicellular organismal development|sex differentiation nucleus DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1) 26 all_lung(10;1.39e-08)|Lung NSC(10;1.42e-08) Lung(218;0.0196) GAGATAGTGTCCGTGGAGGAA 0.562000 27 326 0 0 1 0 0 CYP11A1 1583 broad.mit.edu 37 15 74636146 74636146 + Silent SNP G G A TCGA-FZ-5921-01A-11D-1609-08 TCGA-FZ-5921-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f bb5bc26c-759d-45eb-b733-3157252f6716 g.chr15:74636146G>A ENST00000358632.4 - 4 1034 c.339C>T c.(337-339)gaC>gaT p.D113D CYP11A1_ENST00000541301.1_3'UTR|CYP11A1_ENST00000268053.6_Silent_p.D271D|CYP11A1_ENST00000419019.2_Silent_p.D113D NM_001099773.1 NP_001093243.1 P05108 CP11A_HUMAN cytochrome P450, family 11, subfamily A, polypeptide 1 271 C21-steroid hormone biosynthetic process|cholesterol metabolic process|vitamin D metabolic process|xenobiotic metabolic process mitochondrial matrix cholesterol monooxygenase (side-chain-cleaving) activity|electron carrier activity|heme binding breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(3)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 20 Aminoglutethimide(DB00357)|Cholecalciferol(DB00169)|Cimetidine(DB00501)|Clotrimazole(DB00257)|Digitoxin(DB01396)|Digoxin(DB00390)|Medroxyprogesterone(DB00603)|Ouabain(DB01092)|Progesterone(DB00396)|Testosterone(DB00624)|Trilostane(DB01108) TGAAAATCACGTCCCATGCAG 0.592000 177 860 0 0 1 0 0 SCN5A 6331 broad.mit.edu 37 3 38592495 38592495 + Missense_Mutation SNP C C T TCGA-FZ-5921-01A-11D-1609-08 TCGA-FZ-5921-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f bb5bc26c-759d-45eb-b733-3157252f6716 g.chr3:38592495C>T ENST00000413689.1 - 28 5561 c.5368G>A c.(5368-5370)Gac>Aac p.D1790N SCN5A_ENST00000449557.2_Missense_Mutation_p.D1736N|SCN5A_ENST00000443581.1_Missense_Mutation_p.D1789N|SCN5A_ENST00000414099.2_Missense_Mutation_p.D1772N|SCN5A_ENST00000423572.2_Missense_Mutation_p.D1789N|SCN5A_ENST00000333535.4_Missense_Mutation_p.D1790N|SCN5A_ENST00000425664.1_Missense_Mutation_p.D1772N|SCN5A_ENST00000455624.2_Missense_Mutation_p.D1757N|SCN5A_ENST00000451551.2_Missense_Mutation_p.D1736N|SCN5A_ENST00000450102.2_Missense_Mutation_p.D1736N NM_001099404.1|NM_001160160.1 NP_001092874.1|NP_001153632.1 Q14524 SCN5A_HUMAN sodium channel, voltage-gated, type V, alpha subunit 1790 D -> G (in LQT3). blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction sarcolemma|voltage-gated sodium channel complex protein binding|voltage-gated sodium channel activity NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4) 107 Medulloblastoma(35;0.163) KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1) Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661) ATATCGAAGTCGTCCTCACTC 0.512000 31 285 0 0 1 0 0 KLK4 9622 broad.mit.edu 37 19 51411614 51411614 + Splice_Site SNP C C T TCGA-FZ-5921-01A-11D-1609-08 TCGA-FZ-5921-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f bb5bc26c-759d-45eb-b733-3157252f6716 g.chr19:51411614C>T ENST00000324041.1 - 4 612 c.e4+1 KLK4_ENST00000431178.2_Intron NM_004917.3 NP_004908.3 Q9Y5K2 KLK4_HUMAN kallikrein-related peptidase 4 proteolysis extracellular region metal ion binding|serine-type endopeptidase activity autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(8) 19 all_neural(266;0.026) OV - Ovarian serous cystadenocarcinoma(262;0.00624)|GBM - Glioblastoma multiforme(134;0.00878) CCCTCTCTCACGTTGCAGGAG 0.622000 47 520 0 0 1 0 0 MMP3 4314 broad.mit.edu 37 11 102706890 102706890 + Missense_Mutation SNP G G T TCGA-FZ-5921-01A-11D-1609-08 TCGA-FZ-5921-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f bb5bc26c-759d-45eb-b733-3157252f6716 g.chr11:102706890G>T ENST00000299855.5 - 10 1657 c.1401C>A c.(1399-1401)caC>caA p.H467Q WTAPP1_ENST00000525739.2_RNA NM_002422.3 NP_002413.1 P08254 MMP3_HUMAN matrix metallopeptidase 3 (stromelysin 1, progelatinase) 467 Hemopexin-like 4. collagen catabolic process|proteolysis extracellular space|proteinaceous extracellular matrix calcium ion binding|metalloendopeptidase activity|zinc ion binding endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 22 all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967) BRCA - Breast invasive adenocarcinoma(274;0.0142) Marimastat(DB00786)|Simvastatin(DB00641) TCTTCAAAGTGTGTGTCACTT 0.358000 60 433 9.61844e-40 1.04036e-39 1 1 0 FRMD7 90167 broad.mit.edu 37 X 131212649 131212649 + Missense_Mutation SNP T T G TCGA-FZ-5921-01A-11D-1609-08 TCGA-FZ-5921-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f bb5bc26c-759d-45eb-b733-3157252f6716 g.chrX:131212649T>G ENST00000298542.4 - 12 1571 c.1396A>C c.(1396-1398)Aaa>Caa p.K466Q FRMD7_ENST00000370879.1_Missense_Mutation_p.K346Q|FRMD7_ENST00000464296.1_Missense_Mutation_p.K451Q NM_194277.2 NP_919253.1 Q6ZUT3 FRMD7_HUMAN FERM domain containing 7 466 regulation of neuron projection development cytoskeleton|growth cone|neuronal cell body binding breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(12)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 24 Acute lymphoblastic leukemia(192;0.000127) GGACGCACTTTGCTTGTGAGG 0.438000 85 1055 0 0 1 0 0 TES 26136 broad.mit.edu 37 7 115891866 115891866 + Missense_Mutation SNP C C T TCGA-FZ-5921-01A-11D-1609-08 TCGA-FZ-5921-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f bb5bc26c-759d-45eb-b733-3157252f6716 g.chr7:115891866C>T ENST00000358204.4 + 5 970 c.755C>T c.(754-756)gCc>gTc p.A252V AC073130.3_ENST00000444244.1_RNA|TES_ENST00000393481.2_Missense_Mutation_p.A243V|TES_ENST00000537767.1_Missense_Mutation_p.A10V|AC002066.1_ENST00000446355.2_RNA NM_015641.3 NP_056456.1 Q9UGI8 TES_HUMAN testis derived transcript (3 LIM domains) 252 LIM zinc-binding 1. negative regulation of cell proliferation cytoplasm|focal adhesion|nucleus|protein complex zinc ion binding endometrium(4)|large_intestine(4)|lung(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 12 Lung NSC(10;0.0137)|all_lung(10;0.0148) Breast(660;0.0602) STAD - Stomach adenocarcinoma(10;0.00878) GCCATCTATGCCGAAAGGGCT 0.463000 87 596 0 0 1 0 0 CHRD 8646 broad.mit.edu 37 3 184104344 184104344 + Missense_Mutation SNP T T G TCGA-FZ-5921-01A-11D-1609-08 TCGA-FZ-5921-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f bb5bc26c-759d-45eb-b733-3157252f6716 g.chr3:184104344T>G ENST00000204604.1 + 16 2243 c.1997T>G c.(1996-1998)gTg>gGg p.V666G CHRD_ENST00000450923.1_Missense_Mutation_p.V666G|CHRD_ENST00000348986.3_Missense_Mutation_p.V626G|CHRD_ENST00000545352.1_Intron|EIF2B5_ENST00000444495.1_Intron NM_003741.2 NP_003732.2 Q9H2X0 CHRD_HUMAN chordin 666 BMP signaling pathway involved in spinal cord dorsal/ventral patterning|floor plate development|negative regulation of BMP signaling pathway|negative regulation of cell migration|positive regulation of cell adhesion|skeletal system development extracellular space cytokine binding NS(1)|biliary_tract(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(23)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 48 all_cancers(143;6.33e-11)|Ovarian(172;0.0339) Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22) GCCGAGGGGGTGCGGGCGCTG 0.726000 7 31 0 0 1 0 0 ZNF208 7757 broad.mit.edu 37 19 22156518 22156518 + Missense_Mutation SNP G G T TCGA-FZ-5921-01A-11D-1609-08 TCGA-FZ-5921-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f bb5bc26c-759d-45eb-b733-3157252f6716 g.chr19:22156518G>T ENST00000397126.4 - 4 1466 c.1318C>A c.(1318-1320)Ctt>Att p.L440I ZNF208_ENST00000601773.1_Intron|ZNF208_ENST00000599916.1_Intron NM_007153.3 NP_009084.2 zinc finger protein 208 breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 113 all_lung(12;0.0961)|Lung NSC(12;0.103) TGTTCCATAAGGTTTGAGGAC 0.378000 35 392 6.90743e-12 7.22553e-12 1 1 0 CDKL4 344387 broad.mit.edu 37 2 39440588 39440588 + Missense_Mutation SNP C C T TCGA-FZ-5921-01A-11D-1609-08 TCGA-FZ-5921-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f bb5bc26c-759d-45eb-b733-3157252f6716 g.chr2:39440588C>T ENST00000378803.1 - 3 315 c.316G>A c.(316-318)Gta>Ata p.V106I CDKL4_ENST00000395035.3_Missense_Mutation_p.V106I NM_001009565.1 NP_001009565.1 Q5MAI5 CDKL4_HUMAN cyclin-dependent kinase-like 4 106 Protein kinase. cytoplasm ATP binding|cyclin-dependent protein kinase activity breast(1)|large_intestine(2)|liver(1)|lung(7)|ovary(1) 12 all_hematologic(82;0.248) TGCCATAATACGCTTTTGATC 0.338000 20 378 0 0 1 0 0 SALL1 6299 broad.mit.edu 37 16 51173233 51173233 + Missense_Mutation SNP C C A TCGA-FZ-5921-01A-11D-1609-08 TCGA-FZ-5921-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f bb5bc26c-759d-45eb-b733-3157252f6716 g.chr16:51173233C>A ENST00000440970.1 - 2 3040 c.2609G>T c.(2608-2610)gGt>gTt p.G870V SALL1_ENST00000566102.1_Intron|SALL1_ENST00000541611.1_Intron|SALL1_ENST00000251020.4_Missense_Mutation_p.G967V NM_001127892.1 NP_001121364.1 Q9NSC2 SALL1_HUMAN spalt-like transcription factor 1 967 adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development chromocenter|cytoplasm|heterochromatin|nucleus beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3) 126 all_cancers(37;0.0322) COAD - Colon adenocarcinoma(2;0.24) CAAAGCCCCACCATTCACTGG 0.483000 40 200 5.71845e-15 6.02141e-15 1 1 0 CADM3 57863 broad.mit.edu 37 1 159169659 159169659 + Silent SNP G G A TCGA-FZ-5921-01A-11D-1609-08 TCGA-FZ-5921-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f bb5bc26c-759d-45eb-b733-3157252f6716 g.chr1:159169659G>A ENST00000368125.4 + 8 1228 c.1071G>A c.(1069-1071)cgG>cgA p.R357R CADM3_ENST00000497636.1_3'UTR|CADM3_ENST00000368124.4_Silent_p.R391R|CTA-134P22.2_ENST00000415675.2_RNA NM_001127173.1 NP_001120645.1 Q8N126 CADM3_HUMAN cell adhesion molecule 3 357 adherens junction organization|cell junction assembly|heterophilic cell-cell adhesion|homophilic cell adhesion cell-cell junction|integral to membrane protein homodimerization activity p.R391R(2) NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(20)|ovary(2)|pancreas(1)|prostate(2)|skin(3) 55 all_hematologic(112;0.0429) ACTTGATCCGGCACAAAGGTC 0.562000 5 180 0 0 1 0 0 PCDHGA11 0 broad.mit.edu 37 5 140801533 140801533 + Missense_Mutation SNP G G A TCGA-FZ-5921-01A-11D-1609-08 TCGA-FZ-5921-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f bb5bc26c-759d-45eb-b733-3157252f6716 g.chr5:140801533G>A ENST00000398587.2 + 1 772 c.739G>A c.(739-741)Gta>Ata p.V247I PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA11_ENST00000518882.1_Missense_Mutation_p.V247I|PCDHGB4_ENST00000519479.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGB3_ENST00000576222.1_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) TACACAGTCCGTATATCGCGT 0.502000 6 580 0 0 1 0 0 SORCS3 22986 broad.mit.edu 37 10 106899195 106899195 + Missense_Mutation SNP G G A TCGA-FZ-5921-01A-11D-1609-08 TCGA-FZ-5921-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f bb5bc26c-759d-45eb-b733-3157252f6716 g.chr10:106899195G>A ENST00000369701.3 + 8 1480 c.1253G>A c.(1252-1254)cGa>cAa p.R418Q NM_014978.1 NP_055793.1 Q9UPU3 SORC3_HUMAN sortilin-related VPS10 domain containing receptor 3 418 integral to membrane neuropeptide receptor activity autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2) 131 Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191) Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628) GTGTCTTATCGAAGAGAGGCC 0.502000 44 473 0 0 1 0 0 TIMD4 91937 broad.mit.edu 37 5 156378788 156378788 + Silent SNP C C T TCGA-FZ-5921-01A-11D-1609-08 TCGA-FZ-5921-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f bb5bc26c-759d-45eb-b733-3157252f6716 g.chr5:156378788C>T ENST00000274532.2 - 3 470 c.414G>A c.(412-414)acG>acA p.T138T TIMD4_ENST00000407087.3_Silent_p.T138T NM_138379.2 NP_612388.2 Q96H15 TIMD4_HUMAN T-cell immunoglobulin and mucin domain containing 4 138 Thr-rich. integral to membrane p.T138T(1) NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(23)|ovary(2)|skin(2) 37 Renal(175;0.00488) Medulloblastoma(196;0.0523)|all_neural(177;0.21) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) CTGTTCTGTGCGTGGTTGTTG 0.493000 79 1059 0 0 1 0 0 BMP3 651 broad.mit.edu 37 4 81967430 81967430 + Silent SNP G G A TCGA-FZ-5921-01A-11D-1609-08 TCGA-FZ-5921-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f bb5bc26c-759d-45eb-b733-3157252f6716 g.chr4:81967430G>A ENST00000282701.2 + 2 1175 c.855G>A c.(853-855)cgG>cgA p.R285R NM_001201.2 NP_001192.2 P12645 BMP3_HUMAN bone morphogenetic protein 3 285 cartilage development|cell differentiation|cell-cell signaling|growth|ossification extracellular space BMP receptor binding|cytokine activity|growth factor activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(8)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(1) 29 CCATTGAGCGGAGGAAGAAGC 0.512000 32 353 0 0 1 0 0 KCNN2 3781 broad.mit.edu 37 5 113698895 113698895 + Silent SNP C C T TCGA-FZ-5921-01A-11D-1609-08 TCGA-FZ-5921-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f bb5bc26c-759d-45eb-b733-3157252f6716 g.chr5:113698895C>T ENST00000512097.3 + 2 1441 c.423C>T c.(421-423)ttC>ttT p.F141F KCNN2_ENST00000507750.1_3'UTR|KCNN2_ENST00000264773.3_Silent_p.F141F Q9H2S1 KCNN2_HUMAN potassium intermediate/small conductance calcium-activated channel, subfamily N, member 2 141 integral to membrane calmodulin binding|small conductance calcium-activated potassium channel activity breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(21)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 45 all_cancers(142;2.86e-05)|all_epithelial(76;9.33e-06)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Breast(839;0.159)|Lung NSC(810;0.174)|all_lung(232;0.206) OV - Ovarian serous cystadenocarcinoma(64;1.89e-08)|Epithelial(69;2.04e-08)|all cancers(49;3.74e-06)|COAD - Colon adenocarcinoma(37;0.142)|Colorectal(14;0.195) CGCTCATCTTCGGCATGTTCG 0.602000 13 208 0 0 1 0 0 SYT16 83851 broad.mit.edu 37 14 62541981 62541981 + Missense_Mutation SNP G G A TCGA-FZ-5921-01A-11D-1609-08 TCGA-FZ-5921-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f bb5bc26c-759d-45eb-b733-3157252f6716 g.chr14:62541981G>A ENST00000430451.2 + 3 1062 c.865G>A c.(865-867)Gag>Aag p.E289K RP11-355I22.5_ENST00000553990.1_lincRNA|SYT16_ENST00000446982.2_Missense_Mutation_p.E289K NM_031914.2 NP_114120.2 Q17RD7 SYT16_HUMAN synaptotagmin XVI 289 central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 35 OV - Ovarian serous cystadenocarcinoma(108;0.0438)|BRCA - Breast invasive adenocarcinoma(234;0.118) ATCTCACCAAGAGTCCAGTGT 0.527000 13 227 0 0 1 0 0 WDR63 126820 broad.mit.edu 37 1 85561704 85561704 + Splice_Site SNP G G A TCGA-FZ-5921-01A-11D-1609-08 TCGA-FZ-5921-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f bb5bc26c-759d-45eb-b733-3157252f6716 g.chr1:85561704G>A ENST00000294664.6 + 11 1443 c.e11+1 WDR63_ENST00000370596.1_Splice_Site|WDR63_ENST00000326813.8_Splice_Site NM_145172.3 NP_660155.2 Q8IWG1 WDR63_HUMAN WD repeat domain 63 NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|upper_aerodigestive_tract(3) 36 all cancers(265;0.00391)|Epithelial(280;0.00922)|Colorectal(170;0.166) CAATGGGCAGGTACTTAACAG 0.388000 25 434 0 0 1 0 0 DNAH17 8632 broad.mit.edu 37 17 76455227 76455227 + Silent SNP G G A rs139000751 byFrequency TCGA-FZ-5921-01A-11D-1609-08 TCGA-FZ-5921-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f bb5bc26c-759d-45eb-b733-3157252f6716 g.chr17:76455227G>A ENST00000389840.5 - 61 9799 c.9675C>T c.(9673-9675)gcC>gcT p.A3225A DNAH17_ENST00000585328.1_Silent_p.A3234A|DNAH17_ENST00000586052.1_5'UTR dynein, axonemal, heavy chain 17 NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3) 116 BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656) AGCACAGGCCGGCGGCGGCCG 0.652000 105 1145 0 0 1 0 0 PRKCQ 5588 broad.mit.edu 37 10 6557092 6557092 + Silent SNP C C T TCGA-FZ-5921-01A-11D-1609-08 TCGA-FZ-5921-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f bb5bc26c-759d-45eb-b733-3157252f6716 g.chr10:6557092C>T ENST00000263125.5 - 2 105 c.6G>A c.(4-6)tcG>tcA p.S2S PRKCQ_ENST00000397176.2_Silent_p.S2S|PRKCQ_ENST00000539722.1_5'UTR NM_006257.3 NP_006248.1 Q04759 KPCT_HUMAN protein kinase C, theta 2 axon guidance|cellular component disassembly involved in apoptosis|intracellular signal transduction|membrane protein ectodomain proteolysis|platelet activation|regulation of cell growth|T cell receptor signaling pathway cytosol ATP binding|metal ion binding|protein binding|protein kinase C activity NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(2) 45 GAAGAAATGGCGACATGGTTG 0.478000 21 244 0 0 1 0 0 EXOG 9941 broad.mit.edu 37 3 38537984 38537984 + Missense_Mutation SNP G G T TCGA-FZ-5921-01A-11D-1609-08 TCGA-FZ-5921-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f bb5bc26c-759d-45eb-b733-3157252f6716 g.chr3:38537984G>T ENST00000287675.5 + 1 222 c.126G>T c.(124-126)caG>caT p.Q42H EXOG_ENST00000358249.2_5'UTR|EXOG_ENST00000422077.2_Missense_Mutation_p.Q42H NM_005107.3 NP_005098.2 Q9Y2C4 EXOG_HUMAN endo/exonuclease (5'-3'), endonuclease G-like 42 mitochondrial inner membrane endonuclease activity|metal ion binding|nucleic acid binding central_nervous_system(1)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|urinary_tract(2) 17 TCCGGAGTCAGGGCGCTGAGG 0.672000 OREG0015479 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 7 459 0.00198382 0.00199637 1 1 0 P4HA1 5033 broad.mit.edu 37 10 74770789 74770789 + Missense_Mutation SNP C C T TCGA-FZ-5921-01A-11D-1609-08 TCGA-FZ-5921-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f bb5bc26c-759d-45eb-b733-3157252f6716 g.chr10:74770789C>T ENST00000412021.2 - 14 1708 c.1375G>A c.(1375-1377)Gat>Aat p.D459N P4HA1_ENST00000440381.1_Missense_Mutation_p.D441N|P4HA1_ENST00000373008.2_Missense_Mutation_p.D459N|P4HA1_ENST00000394890.2_Missense_Mutation_p.D459N|P4HA1_ENST00000307116.2_Missense_Mutation_p.D459N|P4HA1_ENST00000263556.3_Missense_Mutation_p.D459N NM_001142595.1 NP_001136067.1 P13674 P4HA1_HUMAN prolyl 4-hydroxylase, alpha polypeptide I 459 Fe2OG dioxygenase. endoplasmic reticulum lumen|mitochondrion 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 4-dioxygenase activity breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1) 15 Prostate(51;0.0198) Hydralazine(DB01275)|L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126) GCAGACACATCACTCATCTAT 0.353000 30 387 0 0 1 0 0 TERT 0 broad.mit.edu 37 5 1294328 1294328 + Missense_Mutation SNP C C T TCGA-FZ-5921-01A-11D-1609-08 TCGA-FZ-5921-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f bb5bc26c-759d-45eb-b733-3157252f6716 g.chr5:1294328C>T ENST00000310581.5 - 2 730 c.673G>A c.(673-675)Ggg>Agg p.G225R TERT_ENST00000508104.2_Missense_Mutation_p.G225R|TERT_ENST00000334602.6_Missense_Mutation_p.G225R|TERT_ENST00000296820.5_Missense_Mutation_p.G225R NM_001193376.1|NM_198253.2 NP_001180305.1|NP_937983.2 O14746 TERT_HUMAN telomerase reverse transcriptase 225 RNA-interacting domain 1. anti-apoptosis|DNA strand elongation|replicative senescence|telomere formation via telomerase|telomere maintenance via telomerase cytoplasm|nucleolus|PML body|telomerase holoenzyme complex protein homodimerization activity|telomeric DNA binding|telomeric RNA binding|telomeric template RNA reverse transcriptase activity NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(3)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(1) 41 all_cancers(3;3.17e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.87e-10) Epithelial(17;0.00105)|all cancers(22;0.00178)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185) GCACTGCCCCCGCGCCTCCTC 0.746000 TERT Mutation-Associated Haematological Disorders;Pulmonary Fibrosis, Idiopathic;Congenital Dyskeratosis 7 65 0 0 1 0 0 ATR 545 broad.mit.edu 37 3 142218556 142218556 + Nonsense_Mutation SNP C C A TCGA-FZ-5921-01A-11D-1609-08 TCGA-FZ-5921-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f bb5bc26c-759d-45eb-b733-3157252f6716 g.chr3:142218556C>A ENST00000350721.4 - 31 5414 c.5293G>T c.(5293-5295)Gag>Tag p.E1765* ATR_ENST00000383101.3_Nonsense_Mutation_p.E1701* NM_001184.3 NP_001175.2 Q13535 ATR_HUMAN ataxia telangiectasia and Rad3 related 1765 FAT. cell cycle|cellular response to gamma radiation|cellular response to UV|DNA damage checkpoint|DNA repair|DNA replication|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence PML body ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4) 122 TCTGTCCACTCGGACCTATTA 0.328000 Other conserved DNA damage response genes 48 361 6.68952e-21 7.09089e-21 1 1 0 MT-ND5 4540 broad.mit.edu 37 MT 13063 13063 + Missense_Mutation SNP G G A TCGA-FZ-5921-01A-11D-1609-08 TCGA-FZ-5921-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f bb5bc26c-759d-45eb-b733-3157252f6716 g.chrM:13063G>A ENST00000361567.2 + 1 727 c.727G>A c.(727-729)Gtc>Atc p.V243I P03915 NU5M_HUMAN mitochondrially encoded NADH dehydrogenase 5 243 mitochondrial electron transport, NADH to ubiquinone|transport integral to membrane|mitochondrial respiratory chain complex I NADH dehydrogenase (ubiquinone) activity breast(4)|endometrium(29)|kidney(33)|pancreas(1)|prostate(7) 74 NADH(DB00157) GCCCCACCCCAGTCTCAGCCC 0.547000 6 7 0 0 1 0 0 PTCHD2 57540 broad.mit.edu 37 1 11561569 11561569 + Missense_Mutation SNP G G A TCGA-FZ-5921-01A-11D-1609-08 TCGA-FZ-5921-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f bb5bc26c-759d-45eb-b733-3157252f6716 g.chr1:11561569G>A ENST00000294484.6 + 2 658 c.520G>A c.(520-522)Gtc>Atc p.V174I PTCHD2_ENST00000389575.3_Missense_Mutation_p.V174I NM_020780.1 NP_065831.1 Q9P2K9 PTHD2_HUMAN patched domain containing 2 174 cholesterol homeostasis|regulation of lipid transport|smoothened signaling pathway endoplasmic reticulum|integral to membrane|nuclear membrane hedgehog receptor activity p.V391I(1) NS(3)|breast(2)|endometrium(9)|kidney(4)|large_intestine(5)|lung(34)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 76 Ovarian(185;0.249) Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549) AGCCCCCCGCGTCATCCCCGC 0.682000 11 126 0 0 1 0 0 PF4V1 5197 broad.mit.edu 37 4 74719545 74719545 + Missense_Mutation SNP C C T TCGA-FZ-5921-01A-11D-1609-08 TCGA-FZ-5921-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f bb5bc26c-759d-45eb-b733-3157252f6716 g.chr4:74719545C>T ENST00000226524.3 + 2 320 c.146C>T c.(145-147)aCc>aTc p.T49I NM_002620.2 NP_002611.1 P10720 PF4V_HUMAN platelet factor 4 variant 1 49 immune response extracellular region chemokine activity|heparin binding endometrium(1)|liver(2) 3 Breast(15;0.00102) all cancers(17;0.00176)|Lung(101;0.128)|LUSC - Lung squamous cell carcinoma(112;0.187) TGTGTGAAGACCACCTCCCAG 0.612000 13 83 0 0 1 0 0 DCAF12L1 139170 broad.mit.edu 37 X 125685629 125685629 + Silent SNP G G A TCGA-FZ-5921-01A-11D-1609-08 TCGA-FZ-5921-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f bb5bc26c-759d-45eb-b733-3157252f6716 g.chrX:125685629G>A ENST00000371126.1 - 1 1205 c.963C>T c.(961-963)taC>taT p.Y321Y NM_178470.4 NP_848565.2 Q5VU92 DC121_HUMAN DDB1 and CUL4 associated factor 12-like 1 321 p.Y321Y(1) breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(39)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 68 AGCCCACGGCGTACACAGACA 0.597000 5 375 0 0 1 0 0 IMPG1 3617 broad.mit.edu 37 6 76751711 76751711 + Missense_Mutation SNP C C T TCGA-FZ-5921-01A-11D-1609-08 TCGA-FZ-5921-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f bb5bc26c-759d-45eb-b733-3157252f6716 g.chr6:76751711C>T ENST00000369950.3 - 2 389 c.200G>A c.(199-201)cGa>cAa p.R67Q IMPG1_ENST00000369963.3_Intron NM_001563.2 NP_001554.2 Q17R60 IMPG1_HUMAN interphotoreceptor matrix proteoglycan 1 67 visual perception proteinaceous extracellular matrix extracellular matrix structural constituent|receptor activity breast(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(8)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 63 Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222) TCTTTTTGTTCGATGCTTTGC 0.363000 35 459 0 0 1 0 0 KIAA1109 84162 broad.mit.edu 37 4 123164205 123164205 + Missense_Mutation SNP T T G TCGA-FZ-5921-01A-11D-1609-08 TCGA-FZ-5921-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f bb5bc26c-759d-45eb-b733-3157252f6716 g.chr4:123164205T>G ENST00000264501.4 + 30 5097 c.4724T>G c.(4723-4725)cTt>cGt p.L1575R KIAA1109_ENST00000455637.1_Missense_Mutation_p.L1575R|KIAA1109_ENST00000388738.3_Missense_Mutation_p.L1575R Q2LD37 K1109_HUMAN KIAA1109 1575 regulation of cell growth|regulation of epithelial cell differentiation integral to membrane|nucleus breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3) 172 GGCATGCAACTTTCAGGATCA 0.308000 29 412 0 0 1 0 0 GPR135 64582 broad.mit.edu 37 14 59930958 59930958 + Silent SNP C C T TCGA-FZ-5921-01A-11D-1609-08 TCGA-FZ-5921-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f bb5bc26c-759d-45eb-b733-3157252f6716 g.chr14:59930958C>T ENST00000395116.1 - 1 1102 c.987G>A c.(985-987)acG>acA p.T329T NM_022571.5 NP_072093.2 Q8IZ08 GP135_HUMAN G protein-coupled receptor 135 329 integral to membrane|plasma membrane G-protein coupled receptor activity breast(1)|endometrium(1)|large_intestine(1)|liver(1)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 13 OV - Ovarian serous cystadenocarcinoma(108;0.134) CGGTGGTGGCCGTGCGCACCT 0.677000 8 157 0 0 1 0 0 MUC4 4585 broad.mit.edu 37 3 195508188 195508188 + Silent SNP G G A TCGA-FZ-5921-01A-11D-1609-08 TCGA-FZ-5921-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f bb5bc26c-759d-45eb-b733-3157252f6716 g.chr3:195508188G>A ENST00000463781.3 - 2 10722 c.10263C>T c.(10261-10263)caC>caT p.H3421H MUC4_ENST00000349607.4_Intron|MUC4_ENST00000346145.4_Intron|MUC4_ENST00000475231.1_Silent_p.H3421H NM_018406.6 NP_060876.5 Q99102 MUC4_HUMAN mucin 4, cell surface associated 189 cell-matrix adhesion integral to plasma membrane|proteinaceous extracellular matrix ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206) Lung NSC(153;0.191) Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05) GBM - Glioblastoma multiforme(46;2.37e-05) GAGGGGTGGCGTGACCTGTGG 0.582000 3 16 0 0 1 0 0 GPR133 283383 broad.mit.edu 37 12 131621557 131621557 + Missense_Mutation SNP G G C TCGA-FZ-5921-01A-11D-1609-08 TCGA-FZ-5921-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f bb5bc26c-759d-45eb-b733-3157252f6716 g.chr12:131621557G>C ENST00000261654.5 + 23 2993 c.2434G>C c.(2434-2436)Gag>Cag p.E812Q GPR133_ENST00000376682.4_Missense_Mutation_p.E498Q|GPR133_ENST00000543617.1_Missense_Mutation_p.E331Q|GPR133_ENST00000535015.1_Missense_Mutation_p.E844Q|GPR133_ENST00000540207.1_3'UTR NM_198827.3 NP_942122.2 Q6QNK2 GP133_HUMAN G protein-coupled receptor 133 812 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity NS(2)|breast(2)|endometrium(6)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|pancreas(6)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4) 67 all_neural(191;0.0982)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06) CCTGAATTCAGAGGTACGTCC 0.532000 13 260 0 0 1 0 0 SRCRB4D 136853 broad.mit.edu 37 7 76028102 76028102 + Missense_Mutation SNP G G A TCGA-FZ-5921-01A-11D-1609-08 TCGA-FZ-5921-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f bb5bc26c-759d-45eb-b733-3157252f6716 g.chr7:76028102G>A ENST00000275560.3 - 5 835 c.488C>T c.(487-489)aCg>aTg p.T163M ZP3_ENST00000336517.4_Intron NM_080744.1 NP_542782.1 Q8WTU2 SRB4D_HUMAN scavenger receptor cysteine rich domain containing, group B (4 domains) 163 extracellular region|membrane scavenger receptor activity p.T163M(1) autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(9)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1) 21 TGGGGGCTGCGTTGGCAAGAA 0.507000 60 822 0 0 1 0 0 SYT16 83851 broad.mit.edu 37 14 62542083 62542083 + Missense_Mutation SNP G G A TCGA-FZ-5921-01A-11D-1609-08 TCGA-FZ-5921-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f bb5bc26c-759d-45eb-b733-3157252f6716 g.chr14:62542083G>A ENST00000430451.2 + 3 1164 c.967G>A c.(967-969)Gac>Aac p.D323N RP11-355I22.5_ENST00000553990.1_lincRNA|SYT16_ENST00000446982.2_Missense_Mutation_p.D323N NM_031914.2 NP_114120.2 Q17RD7 SYT16_HUMAN synaptotagmin XVI 323 central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 35 OV - Ovarian serous cystadenocarcinoma(108;0.0438)|BRCA - Breast invasive adenocarcinoma(234;0.118) CTATGCCACTGACAGCTCCTC 0.498000 40 587 0 0 1 0 0 GPR133 283383 broad.mit.edu 37 12 131621523 131621523 + Silent SNP G G A TCGA-FZ-5921-01A-11D-1609-08 TCGA-FZ-5921-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f bb5bc26c-759d-45eb-b733-3157252f6716 g.chr12:131621523G>A ENST00000261654.5 + 23 2959 c.2400G>A c.(2398-2400)ctG>ctA p.L800L GPR133_ENST00000376682.4_Silent_p.L486L|GPR133_ENST00000543617.1_Silent_p.L319L|GPR133_ENST00000535015.1_Silent_p.L832L|GPR133_ENST00000540207.1_3'UTR NM_198827.3 NP_942122.2 Q6QNK2 GP133_HUMAN G protein-coupled receptor 133 800 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity NS(2)|breast(2)|endometrium(6)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|pancreas(6)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4) 67 all_neural(191;0.0982)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06) CCCAGGGACTGTTCATATTCC 0.527000 13 282 0 0 1 0 0 ZFHX4 79776 broad.mit.edu 37 8 77767609 77767609 + Missense_Mutation SNP G G A TCGA-FZ-5921-01A-11D-1609-08 TCGA-FZ-5921-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f bb5bc26c-759d-45eb-b733-3157252f6716 g.chr8:77767609G>A ENST00000521891.2 + 10 8900 c.8452G>A c.(8452-8454)Gag>Aag p.E2818K ZFHX4_ENST00000455469.2_Missense_Mutation_p.E2773K|ZFHX4_ENST00000518282.1_Missense_Mutation_p.E2792K|ZFHX4_ENST00000050961.6_Missense_Mutation_p.E2773K NM_024721.4 NP_078997.4 Q86UP3 ZFHX4_HUMAN zinc finger homeobox 4 2773 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) CACCGGAGACGAGGGAAACAC 0.478000 HNSCC(33;0.089) 32 180 0 0 1 0 0 GPX1 2876 broad.mit.edu 37 3 49395482 49395482 + Missense_Mutation SNP G G C TCGA-FZ-5921-01A-11D-1609-08 TCGA-FZ-5921-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f bb5bc26c-759d-45eb-b733-3157252f6716 g.chr3:49395482G>C ENST00000419783.1 - 1 551 c.230C>G c.(229-231)cCg>cGg p.P77R GPX1_ENST00000496791.1_5'UTR|GPX1_ENST00000419349.1_Missense_Mutation_p.P77R NM_000581.2 NP_000572.2 P07203 GPX1_HUMAN glutathione peroxidase 1 77 anti-apoptosis|cell redox homeostasis|glutathione metabolic process|heart contraction|hydrogen peroxide catabolic process|negative regulation of caspase activity|purine base metabolic process|purine nucleotide catabolic process|regulation of gene expression, epigenetic|regulation of mammary gland epithelial cell proliferation|regulation of proteasomal protein catabolic process|release of cytochrome c from mitochondria|response to selenium ion|UV protection cytosol|mitochondrion endopeptidase inhibitor activity|glutathione peroxidase activity|SH3 domain binding breast(1)|large_intestine(2)|lung(1) 4 BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244) Glutathione(DB00143) CTGGTTGCACGGGAAGCCGAG 0.726000 4 159 0 0 1 0 0 SRGAP3 9901 broad.mit.edu 37 3 9036080 9036080 + Silent SNP C C T TCGA-FZ-5921-01A-11D-1609-08 TCGA-FZ-5921-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f bb5bc26c-759d-45eb-b733-3157252f6716 g.chr3:9036080C>T ENST00000383836.3 - 19 2782 c.2355G>A c.(2353-2355)cgG>cgA p.R785R SRGAP3_ENST00000360413.3_Silent_p.R761R NM_014850.3 NP_055665.1 O43295 SRGP2_HUMAN SLIT-ROBO Rho GTPase activating protein 3 785 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity|protein binding SRGAP3/RAF1(6) breast(1)|endometrium(2)|kidney(21)|large_intestine(7)|lung(13)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 54 OV - Ovarian serous cystadenocarcinoma(96;0.0563) CGCCGTTGTGCCGGCCCTCCC 0.567000 T RAF1 pilocytic astrocytoma 6 555 0 0 1 0 0 USP7 7874 broad.mit.edu 37 16 9017122 9017122 + Silent SNP G G A TCGA-FZ-5921-01A-11D-1609-08 TCGA-FZ-5921-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f bb5bc26c-759d-45eb-b733-3157252f6716 g.chr16:9017122G>A ENST00000344836.4 - 3 531 c.333C>T c.(331-333)caC>caT p.H111H USP7_ENST00000381886.4_Silent_p.H95H|USP7_ENST00000535863.1_Silent_p.H12H NM_003470.2 NP_003461.2 Q93009 UBP7_HUMAN ubiquitin specific peptidase 7 (herpes virus-associated) 111 Interaction with TSPYL5.|Interaction with p53/TP53, MDM2 and EBNA1.|MATH.|Necessary for nuclear localization. interspecies interaction between organisms|multicellular organismal development|protein deubiquitination|regulation of sequence-specific DNA binding transcription factor activity|ubiquitin-dependent protein catabolic process cytoplasm|PML body cysteine-type endopeptidase activity|p53 binding|protein C-terminus binding|transcription factor binding|ubiquitin protein ligase binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(13)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1) 48 CGCTTTTTTGGTGTGGTCTGT 0.453000 6 489 0 0 1 0 0 DMRT3 58524 broad.mit.edu 37 9 990923 990923 + Missense_Mutation SNP C C T TCGA-FZ-5921-01A-11D-1609-08 TCGA-FZ-5921-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f bb5bc26c-759d-45eb-b733-3157252f6716 g.chr9:990923C>T ENST00000190165.2 + 2 1375 c.1337C>T c.(1336-1338)tCa>tTa p.S446L NM_021240.2 NP_067063.1 Q9NQL9 DMRT3_HUMAN doublesex and mab-3 related transcription factor 3 446 cell differentiation|multicellular organismal development|sex differentiation nucleus DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1) 26 all_lung(10;1.39e-08)|Lung NSC(10;1.42e-08) Lung(218;0.0196) CCATTTGTGTCAAAGCAGTCC 0.527000 32 392 0 0 1 0 0 DMRT3 58524 broad.mit.edu 37 9 990557 990557 + Missense_Mutation SNP C C T TCGA-FZ-5921-01A-11D-1609-08 TCGA-FZ-5921-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f bb5bc26c-759d-45eb-b733-3157252f6716 g.chr9:990557C>T ENST00000190165.2 + 2 1009 c.971C>T c.(970-972)tCg>tTg p.S324L NM_021240.2 NP_067063.1 Q9NQL9 DMRT3_HUMAN doublesex and mab-3 related transcription factor 3 324 cell differentiation|multicellular organismal development|sex differentiation nucleus DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1) 26 all_lung(10;1.39e-08)|Lung NSC(10;1.42e-08) Lung(218;0.0196) TACCCCATCTCGTCTTCCAAA 0.557000 15 336 0 0 1 0 0 TP53 7157 broad.mit.edu 37 17 7578475 7578475 + Missense_Mutation SNP G G A rs137852790 TCGA-FZ-5921-01A-11D-1609-08 TCGA-FZ-5921-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f bb5bc26c-759d-45eb-b733-3157252f6716 g.chr17:7578475G>A ENST00000420246.2 - 5 587 c.455C>T c.(454-456)cCg>cTg p.P152L TP53_ENST00000269305.4_Missense_Mutation_p.P152L|TP53_ENST00000359597.4_Missense_Mutation_p.P152L|TP53_ENST00000445888.2_Missense_Mutation_p.P152L|TP53_ENST00000455263.2_Missense_Mutation_p.P152L|TP53_ENST00000413465.2_Missense_Mutation_p.P152L NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 152 Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42. P -> A (in sporadic cancers; somatic mutation).|P -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|P -> Q (in sporadic cancers; somatic mutation).|P -> R (in sporadic cancers; somatic mutation).|P -> S (in sporadic cancers; somatic mutation).|P -> T (in sporadic cancers; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.P152L(66)|p.P152R(8)|p.0?(8)|p.T150fs*16(6)|p.?(5)|p.P153fs*28(5)|p.P152fs*18(5)|p.P152fs*14(5)|p.P152Q(4)|p.P59L(2)|p.P20L(2)|p.P153fs*16(1)|p.P151_V173del23(1)|p.P152_P153del(1)|p.P59R(1)|p.P20R(1)|p.P152fs*28(1)|p.T57fs*16(1)|p.D148_T155delDSTPPPGT(1)|p.T150_P153delTPPP(1)|p.D148fs*23(1)|p.S149fs*72(1)|p.S149fs*17(1)|p.P152fs*27(1)|p.Q144_G154del11(1)|p.Q144fs*16(1)|p.T18fs*16(1) NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79) 24185 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) GGTGCCGGGCGGGGGTGTGGA 0.612000 111 """Mis, N, F""" """breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types""" """breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types""" Other conserved DNA damage response genes Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 45 233 0 0 1 0 0 SDK2 54549 broad.mit.edu 37 17 71382685 71382685 + Missense_Mutation SNP A A G TCGA-FZ-5921-01A-11D-1609-08 TCGA-FZ-5921-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f bb5bc26c-759d-45eb-b733-3157252f6716 g.chr17:71382685A>G ENST00000392650.3 - 31 4397 c.4397T>C c.(4396-4398)cTg>cCg p.L1466P SDK2_ENST00000388726.3_Missense_Mutation_p.L1466P NM_001144952.1 NP_001138424.1 Q58EX2 SDK2_HUMAN sidekick cell adhesion molecule 2 1466 Fibronectin type-III 9. cell adhesion integral to membrane breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(15)|lung(31)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 86 GAAGGGCTTCAGCCTGTAGGG 0.592000 2 11 0 0 1 0 0 ACAN 176 broad.mit.edu 37 15 89402162 89402162 + Missense_Mutation SNP G G A TCGA-FZ-5921-01A-11D-1609-08 TCGA-FZ-5921-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f bb5bc26c-759d-45eb-b733-3157252f6716 g.chr15:89402162G>A ENST00000439576.2 + 12 6720 c.6346G>A c.(6346-6348)Gcc>Acc p.A2116T ACAN_ENST00000352105.7_Missense_Mutation_p.A2116T|ACAN_ENST00000561243.1_Missense_Mutation_p.A2116T|ACAN_ENST00000559004.1_Missense_Mutation_p.A2116T NM_013227.3 NP_037359.3 E7EX88 E7EX88_HUMAN aggrecan 2116 cell adhesion hyaluronic acid binding|sugar binding NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2) 93 Lung NSC(78;0.0392)|all_lung(78;0.077) BRCA - Breast invasive adenocarcinoma(143;0.146) GGCATCTGCCGCCCCTGAGGC 0.562000 5 334 0 0 1 0 0 DMRT3 58524 broad.mit.edu 37 9 990581 990581 + Missense_Mutation SNP C C T TCGA-FZ-5921-01A-11D-1609-08 TCGA-FZ-5921-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f bb5bc26c-759d-45eb-b733-3157252f6716 g.chr9:990581C>T ENST00000190165.2 + 2 1033 c.995C>T c.(994-996)tCa>tTa p.S332L NM_021240.2 NP_067063.1 Q9NQL9 DMRT3_HUMAN doublesex and mab-3 related transcription factor 3 332 cell differentiation|multicellular organismal development|sex differentiation nucleus DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1) 26 all_lung(10;1.39e-08)|Lung NSC(10;1.42e-08) Lung(218;0.0196) TCTGTGGGATCAGCCTTTCGA 0.572000 16 377 0 0 1 0 0 ZC3H4 23211 broad.mit.edu 37 19 47570533 47570533 + Missense_Mutation SNP C C T TCGA-FZ-5921-01A-11D-1609-08 TCGA-FZ-5921-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f bb5bc26c-759d-45eb-b733-3157252f6716 g.chr19:47570533C>T ENST00000253048.5 - 15 3029 c.2992G>A c.(2992-2994)Gtg>Atg p.V998M ZC3H4_ENST00000594019.1_5'UTR NM_015168.1 NP_055983.1 Q9UPT8 ZC3H4_HUMAN zinc finger CCCH-type containing 4 998 nucleic acid binding|zinc ion binding NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(7)|upper_aerodigestive_tract(1) 41 all_cancers(25;3.3e-08)|all_epithelial(76;2.28e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.0889) OV - Ovarian serous cystadenocarcinoma(262;5.76e-05)|all cancers(93;7.69e-05)|Epithelial(262;0.00354)|GBM - Glioblastoma multiforme(486;0.0372) GCCGCGGGCACGGGGGGCACT 0.741000 36 450 0 0 1 0 0 ABCG5 64240 broad.mit.edu 37 2 44055164 44055164 + Missense_Mutation SNP G G A TCGA-FZ-5921-01A-11D-1609-08 TCGA-FZ-5921-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f bb5bc26c-759d-45eb-b733-3157252f6716 g.chr2:44055164G>A ENST00000405322.1 - 4 1245 c.349C>T c.(349-351)Cgg>Tgg p.R117W ABCG5_ENST00000543989.1_5'UTR|ABCG5_ENST00000260645.1_Missense_Mutation_p.R198W Q9H222 ABCG5_HUMAN ATP-binding cassette, sub-family G (WHITE), member 5 198 ABC transporter. cholesterol efflux|cholesterol homeostasis|excretion|lipid metabolic process|negative regulation of intestinal cholesterol absorption|negative regulation of intestinal phytosterol absorption apical plasma membrane|integral to membrane ATP binding|ATPase activity|protein heterodimerization activity breast(1)|kidney(2)|large_intestine(4)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 33 all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175) ACCCGGCGCCGCTCACCCGTG 0.597000 14 133 0 0 1 0 0 SCN8A 6334 broad.mit.edu 37 12 52200183 52200183 + Missense_Mutation SNP G G A TCGA-FZ-5921-01A-11D-1609-08 TCGA-FZ-5921-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f bb5bc26c-759d-45eb-b733-3157252f6716 g.chr12:52200183G>A ENST00000354534.5 + 27 5091 c.4913G>A c.(4912-4914)cGt>cAt p.R1638H SCN8A_ENST00000545061.1_Missense_Mutation_p.R1597H NM_001177984.2|NM_014191.3 NP_001171455.1|NP_055006.1 Q9UQD0 SCN8A_HUMAN sodium channel, voltage gated, type VIII, alpha subunit 1638 axon guidance|myelination|peripheral nervous system development cytoplasmic membrane-bounded vesicle|node of Ranvier ATP binding|voltage-gated sodium channel activity breast(2)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 55 BRCA - Breast invasive adenocarcinoma(357;0.181) Lamotrigine(DB00555) AAAGGGATTCGTACCCTGCTC 0.488000 13 619 0 0 1 0 0 C17orf59 54785 broad.mit.edu 37 17 8092931 8092931 + Missense_Mutation SNP G G C TCGA-FZ-5921-01A-11D-1609-08 TCGA-FZ-5921-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f bb5bc26c-759d-45eb-b733-3157252f6716 g.chr17:8092931G>C ENST00000389017.4 - 1 633 c.528C>G c.(526-528)tgC>tgG p.C176W NM_017622.2 NP_060092.2 Q96GS4 CQ059_HUMAN chromosome 17 open reading frame 59 176 large_intestine(2)|lung(3)|urinary_tract(1) 6 CGGCGCCACCGCACGCCTCGC 0.736000 27 96 0 0 1 0 0 ABCB4 5244 broad.mit.edu 37 7 87035608 87035608 + Missense_Mutation SNP G G A TCGA-FZ-5921-01A-11D-1609-08 TCGA-FZ-5921-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f bb5bc26c-759d-45eb-b733-3157252f6716 g.chr7:87035608G>A ENST00000265723.4 - 26 3614 c.3503C>T c.(3502-3504)cCc>cTc p.P1168L ABCB4_ENST00000453593.1_Missense_Mutation_p.P1114L|ABCB4_ENST00000359206.3_Missense_Mutation_p.P1161L|ABCB4_ENST00000358400.3_Missense_Mutation_p.P1114L|ABCB4_ENST00000545634.1_Missense_Mutation_p.P1161L NM_000443.3|NM_018849.2 NP_000434.1|NP_061337.1 P21439 MDR3_HUMAN ATP-binding cassette, sub-family B (MDR/TAP), member 4 1168 ABC transporter 2. P -> S (in GBD1). cellular lipid metabolic process apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction ATP binding|xenobiotic-transporting ATPase activity breast(5)|endometrium(7)|kidney(2)|large_intestine(15)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 77 Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203) ACTTACGTGGGGTAACGTCTC 0.398000 9 719 0 0 1 0 0 SMO 6608 broad.mit.edu 37 7 128850261 128850261 + Missense_Mutation SNP G G T TCGA-FZ-5921-01A-11D-1609-08 TCGA-FZ-5921-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f bb5bc26c-759d-45eb-b733-3157252f6716 g.chr7:128850261G>T ENST00000249373.3 + 9 1804 c.1524G>T c.(1522-1524)gaG>gaT p.E508D RP11-286H14.8_ENST00000466717.1_RNA NM_005631.4 NP_005622.1 Q99835 SMO_HUMAN smoothened, frizzled family receptor 508 adenohypophysis development|axon extension involved in axon guidance|canonical Wnt receptor signaling pathway|cardioblast differentiation|central nervous system neuron differentiation|cerebellar cortex morphogenesis|ciliary receptor clustering involved in smoothened signaling pathway|determination of left/right symmetry|dorsal/ventral neural tube patterning|embryonic camera-type eye development|embryonic digestive tract morphogenesis|embryonic neurocranium morphogenesis|embryonic viscerocranium morphogenesis|exocrine pancreas development|facial nerve development|floor plate formation|gonad development|heart morphogenesis|muscle cell fate commitment|negative regulation of apoptosis|neural crest cell migration|neuron fate commitment|neuron projection regeneration|odontogenesis of dentine-containing tooth|osteoblast differentiation|otolith morphogenesis|positive regulation of epithelial cell proliferation|positive regulation of mesenchymal cell proliferation|positive regulation of neuroblast proliferation|positive regulation of smoothened signaling pathway|semicircular canal morphogenesis|smoothened signaling pathway involved in regulation of cerebellar granule cell precursor cell proliferation|smoothened signaling pathway involved in ventral spinal cord patterning|spermatogenesis|vasculogenesis cilium|cytoplasm|integral to membrane|neuronal cell body|plasma membrane G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding biliary_tract(1)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(14)|liver(1)|lung(11)|pancreas(2)|prostate(1)|skin(20)|upper_aerodigestive_tract(3)|urinary_tract(1) 64 CTGACTGTGAGATCAAGAATC 0.552000 Mis skin basal cell OREG0018305 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 74 378 3.31162e-33 3.53387e-33 1 1 0 ATP4A 495 broad.mit.edu 37 19 36050067 36050067 + Silent SNP G G C TCGA-FZ-5921-01A-11D-1609-08 TCGA-FZ-5921-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f bb5bc26c-759d-45eb-b733-3157252f6716 g.chr19:36050067G>C ENST00000262623.3 - 8 1111 c.1083C>G c.(1081-1083)cgC>cgG p.R361R NM_000704.2 NP_000695.2 P20648 ATP4A_HUMAN ATPase, H+/K+ exchanging, alpha polypeptide 361 ATP biosynthetic process|ATP hydrolysis coupled proton transport integral to plasma membrane ATP binding|hydrogen:potassium-exchanging ATPase activity|magnesium ion binding breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(26)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1) 53 all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0724) Esomeprazole(DB00736)|Lansoprazole(DB00448)|Omeprazole(DB00338)|Pantoprazole(DB00213)|Rabeprazole(DB01129)|Trifluoperazine(DB00831) TACTGGCCAGGCGCTTGGCTG 0.622000 106 859 0 0 1 0 0 NAV3 89795 broad.mit.edu 37 12 78513106 78513106 + Missense_Mutation SNP A A G TCGA-FZ-5921-01A-11D-1609-08 TCGA-FZ-5921-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f bb5bc26c-759d-45eb-b733-3157252f6716 g.chr12:78513106A>G ENST00000397909.2 + 15 3303 c.3130A>G c.(3130-3132)Agc>Ggc p.S1044G NAV3_ENST00000266692.7_Missense_Mutation_p.S1044G|NAV3_ENST00000228327.6_Missense_Mutation_p.S1044G|NAV3_ENST00000536525.2_Missense_Mutation_p.S1044G Q8IVL0 NAV3_HUMAN neuron navigator 3 1044 Ser-rich. nuclear outer membrane ATP binding|nucleoside-triphosphatase activity NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1) 236 TGCAGGAAAAAGCAGTGGAGA 0.468000 HNSCC(70;0.22) 78 542 0 0 1 0 0 FUT1 2523 broad.mit.edu 37 19 49254216 49254216 + Missense_Mutation SNP C C T TCGA-FZ-5921-01A-11D-1609-08 TCGA-FZ-5921-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f bb5bc26c-759d-45eb-b733-3157252f6716 g.chr19:49254216C>T ENST00000310160.3 - 4 1297 c.323G>A c.(322-324)cGc>cAc p.R108H NM_000148.3 NP_000139.1 P19526 FUT1_HUMAN fucosyltransferase 1 (galactoside 2-alpha-L-fucosyltransferase, H blood group) 108 L-fucose catabolic process|protein glycosylation Golgi cisterna membrane|integral to plasma membrane|membrane fraction galactoside 2-alpha-L-fucosyltransferase activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(3)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1) 17 all_lung(116;1.7e-06)|all_epithelial(76;3.52e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261) OV - Ovarian serous cystadenocarcinoma(262;0.000135)|all cancers(93;0.000354)|Epithelial(262;0.0191)|GBM - Glioblastoma multiforme(486;0.0222) AAAGGCCCGGCGGCCGTTGAG 0.662000 5 288 0 0 1 0 0 ADD2 119 broad.mit.edu 37 2 70903959 70903959 + Missense_Mutation SNP G G A TCGA-FZ-5921-01A-11D-1609-08 TCGA-FZ-5921-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f bb5bc26c-759d-45eb-b733-3157252f6716 g.chr2:70903959G>A ENST00000264436.3 - 13 2006 c.1562C>T c.(1561-1563)gCg>gTg p.A521V ADD2_ENST00000413157.2_Missense_Mutation_p.A521V|ADD2_ENST00000355733.3_Missense_Mutation_p.A521V|ADD2_ENST00000407644.2_Missense_Mutation_p.A521V|ADD2_ENST00000430656.1_Missense_Mutation_p.A537V NM_001617.3 NP_001608.1 P35612 ADDB_HUMAN adducin 2 (beta) 521 actin filament bundle assembly|barbed-end actin filament capping|positive regulation of protein binding cytoplasm|F-actin capping protein complex|plasma membrane actin filament binding|calmodulin binding|metal ion binding|protein heterodimerization activity|protein homodimerization activity|spectrin binding autonomic_ganglia(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(11)|lung(13)|ovary(3)|pancreas(1)|skin(2) 36 AATGACGCTCGCCAGGAGCTG 0.602000 31 367 0 0 1 0 0 FILIP1 27145 broad.mit.edu 37 6 76022446 76022446 + Silent SNP C C T TCGA-FZ-5921-01A-11D-1609-08 TCGA-FZ-5921-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f bb5bc26c-759d-45eb-b733-3157252f6716 g.chr6:76022446C>T ENST00000393004.2 - 5 3323 c.3102G>A c.(3100-3102)cgG>cgA p.R1034R FILIP1_ENST00000237172.7_Silent_p.R1034R|FILIP1_ENST00000370020.1_Silent_p.R935R|FILIP1_ENST00000498523.1_5'UTR Q7Z7B0 FLIP1_HUMAN filamin A interacting protein 1 1034 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 TGAGGATTGTCCGTCCCATGG 0.468000 84 844 0 0 1 0 0 RP1L1 94137 broad.mit.edu 37 8 10469289 10469289 + Silent SNP C C T TCGA-FZ-5921-01A-11D-1609-08 TCGA-FZ-5921-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f bb5bc26c-759d-45eb-b733-3157252f6716 g.chr8:10469289C>T ENST00000382483.3 - 4 2542 c.2319G>A c.(2317-2319)ccG>ccA p.P773P NM_178857.5 NP_849188.4 A6NKC6 A6NKC6_HUMAN retinitis pigmentosa 1-like 1 773 intracellular signal transduction breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3) 148 COAD - Colon adenocarcinoma(149;0.0811) GTATGGGGGCCGGCGAGCATG 0.662000 86 527 0 0 1 0 0 DMRT3 58524 broad.mit.edu 37 9 990814 990814 + Missense_Mutation SNP C C T TCGA-FZ-5921-01A-11D-1609-08 TCGA-FZ-5921-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f bb5bc26c-759d-45eb-b733-3157252f6716 g.chr9:990814C>T ENST00000190165.2 + 2 1266 c.1228C>T c.(1228-1230)Cct>Tct p.P410S NM_021240.2 NP_067063.1 Q9NQL9 DMRT3_HUMAN doublesex and mab-3 related transcription factor 3 410 cell differentiation|multicellular organismal development|sex differentiation nucleus DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1) 26 all_lung(10;1.39e-08)|Lung NSC(10;1.42e-08) Lung(218;0.0196) GTATGTCAGTCCTTTCCCCAG 0.582000 23 179 0 0 1 0 0 LRP1B 53353 broad.mit.edu 37 2 141245239 141245239 + Nonsense_Mutation SNP G G A TCGA-FZ-5921-01A-11D-1609-08 TCGA-FZ-5921-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f bb5bc26c-759d-45eb-b733-3157252f6716 g.chr2:141245239G>A ENST00000389484.3 - 58 10161 c.9190C>T c.(9190-9192)Cga>Tga p.R3064* NM_018557.2 NP_061027.2 Q9NZR2 LRP1B_HUMAN low density lipoprotein receptor-related protein 1B 3064 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) CCATTGGGTCGGCTAGAATCG 0.313000 TSP Lung(27;0.18) 30 330 0 0 1 0 0 KRAS 3845 broad.mit.edu 37 12 25398284 25398284 + Missense_Mutation SNP C C A rs121913529 TCGA-FZ-5921-01A-11D-1609-08 TCGA-FZ-5921-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f bb5bc26c-759d-45eb-b733-3157252f6716 g.chr12:25398284C>A ENST00000311936.3 - 2 226 c.35G>T c.(34-36)gGt>gTt p.G12V KRAS_ENST00000557334.1_Missense_Mutation_p.G12V|KRAS_ENST00000256078.4_Missense_Mutation_p.G12V|KRAS_ENST00000556131.1_Missense_Mutation_p.G12V NM_004985.3 NP_004976.2 P01116 RASK_HUMAN Kirsten rat sarcoma viral oncogene homolog 12 G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation). activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction plasma membrane GTP binding|GTPase activity|protein binding p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1) UBE2L3/KRAS(2) NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57) 25349 all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12) OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05) GCCTACGCCACCAGCTCCAAC 0.348000 G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS) 119 Mis """pancreatic, colorectal, lung, thyroid, AML, others""" Noonan syndrome;Cardiofaciocutaneous syndrome TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6) 15 91 8.00594e-06 8.10793e-06 1 1 0 BAI3 577 broad.mit.edu 37 6 69666614 69666614 + Silent SNP A A C TCGA-FZ-5921-01A-11D-1609-08 TCGA-FZ-5921-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f bb5bc26c-759d-45eb-b733-3157252f6716 g.chr6:69666614A>C ENST00000370598.1 + 8 2259 c.1438A>C c.(1438-1440)Agg>Cgg p.R480R NM_001704.2 NP_001695.1 O60242 BAI3_HUMAN brain-specific angiogenesis inhibitor 3 480 TSP type-1 4. negative regulation of angiogenesis|neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4) 210 all_lung(197;0.212) AAGGCGAATAAGGACCTGTCA 0.507000 30 404 0 0 1 0 0 SQSTM1 8878 broad.mit.edu 37 5 179248115 179248115 + Missense_Mutation SNP C C G TCGA-FZ-5921-01A-11D-1609-08 TCGA-FZ-5921-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f bb5bc26c-759d-45eb-b733-3157252f6716 g.chr5:179248115C>G ENST00000389805.4 + 1 357 c.179C>G c.(178-180)cCt>cGt p.P60R SQSTM1_ENST00000376929.3_Intron|SQSTM1_ENST00000510187.1_Missense_Mutation_p.P60R|SQSTM1_ENST00000402874.3_5'UTR NM_003900.4 NP_003891.1 Q13501 SQSTM_HUMAN sequestosome 1 60 Interaction with PAWR.|Interaction with PRKCZ and dimerization (By similarity).|OPR. anti-apoptosis|apoptosis|cell differentiation|endosome transport|induction of apoptosis by extracellular signals|intracellular signal transduction|macroautophagy|nerve growth factor receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|protein localization|regulation of I-kappaB kinase/NF-kappaB cascade|ubiquitin-dependent protein catabolic process cytosol|late endosome|nucleoplasm protein kinase C binding|receptor tyrosine kinase binding|SH2 domain binding|ubiquitin binding|zinc ion binding SQSTM1/ALK(2) NS(1)|breast(1)|endometrium(1)|large_intestine(2)|liver(2)|lung(5)|ovary(1) 13 all_cancers(89;0.000205)|all_epithelial(37;7.15e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243) all_cancers(40;0.0395)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) GCGCTGCGGCCTGGCGGCTTC 0.801000 3 10 0 0 1 0 0 PAQR3 152559 broad.mit.edu 37 4 79847745 79847745 + Missense_Mutation SNP G G A TCGA-FZ-5921-01A-11D-1609-08 TCGA-FZ-5921-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f bb5bc26c-759d-45eb-b733-3157252f6716 g.chr4:79847745G>A ENST00000512733.1 - 4 845 c.632C>T c.(631-633)tCg>tTg p.S211L PAQR3_ENST00000380645.4_Missense_Mutation_p.S211L|PAQR3_ENST00000515541.1_5'UTR|PAQR3_ENST00000295462.3_3'UTR NM_001040202.1 NP_001035292.1 Q6TCH7 PAQR3_HUMAN progestin and adipoQ receptor family member III 211 Golgi membrane|integral to membrane receptor activity breast(2)|central_nervous_system(1)|large_intestine(3)|lung(1)|upper_aerodigestive_tract(1) 8 TCCATATCCCGAAACAGAACA 0.443000 27 476 0 0 1 0 0 GPR113 165082 broad.mit.edu 37 2 26536714 26536714 + Missense_Mutation SNP G G A TCGA-FZ-5921-01A-11D-1609-08 TCGA-FZ-5921-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f bb5bc26c-759d-45eb-b733-3157252f6716 g.chr2:26536714G>A ENST00000333478.6 - 5 1175 c.593C>T c.(592-594)cCg>cTg p.P198L GPR113_ENST00000421160.2_Missense_Mutation_p.P328L|GPR113_ENST00000459892.1_5'UTR|GPR113_ENST00000541401.1_5'UTR|GPR113_ENST00000311519.1_Missense_Mutation_p.P397L NM_153835.3 NP_722577.2 Q8IZF5 GP113_HUMAN G protein-coupled receptor 113 397 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity p.P198L(1) NS(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(4)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1) 24 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) GTCAGCCATCGGGCAGCGCTG 0.597000 19 241 0 0 1 0 0 KIAA1147 57189 broad.mit.edu 37 7 141385395 141385395 + Missense_Mutation SNP G G A TCGA-FZ-5921-01A-11D-1609-08 TCGA-FZ-5921-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f bb5bc26c-759d-45eb-b733-3157252f6716 g.chr7:141385395G>A ENST00000536163.1 - 3 409 c.410C>T c.(409-411)gCc>gTc p.A137V KIAA1147_ENST00000482493.1_Missense_Mutation_p.A46V NM_001080392.1 NP_001073861.1 A4D1U4 LCHN_HUMAN KIAA1147 137 breast(3)|endometrium(4)|kidney(2)|large_intestine(1)|ovary(1)|skin(1) 12 Melanoma(164;0.0171) GGGCATGTTGGCAAAGCAGGC 0.537000 5 370 0 0 1 0 0 CADM1 23705 broad.mit.edu 37 11 115080343 115080343 + Silent SNP G G T TCGA-FZ-5921-01A-11D-1609-08 TCGA-FZ-5921-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f bb5bc26c-759d-45eb-b733-3157252f6716 g.chr11:115080343G>T ENST00000537058.1 - 8 1049 c.1029C>A c.(1027-1029)acC>acA p.T343T CADM1_ENST00000452722.2_Silent_p.T343T|CADM1_ENST00000536727.1_Intron|CADM1_ENST00000537140.1_Intron|CADM1_ENST00000331581.6_Silent_p.T343T|CADM1_ENST00000542447.2_Intron Q9BY67 CADM1_HUMAN cell adhesion molecule 1 343 PPTTIPPPTTTTTTTTTTTTTILTIIT -> TTATTEPAVH GLTQLPNSAEELDSEDLS (in Ref. 3; BAC11657). adherens junction organization|apoptosis|cell differentiation|cell junction assembly|cell recognition|detection of stimulus|heterophilic cell-cell adhesion|homophilic cell adhesion|multicellular organismal development|positive regulation of cytokine secretion|spermatogenesis|susceptibility to natural killer cell mediated cytotoxicity basolateral plasma membrane|cell-cell junction|integral to membrane PDZ domain binding|protein C-terminus binding|protein homodimerization activity|receptor binding p.T343T(5) cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(9)|ovary(2)|skin(1) 32 all_hematologic(175;0.0628) all_cancers(61;2.98e-14)|all_epithelial(67;2.64e-08)|all_hematologic(158;0.000154)|Melanoma(852;0.000952)|Acute lymphoblastic leukemia(157;0.00101)|Breast(348;0.0102)|Medulloblastoma(222;0.0429)|Prostate(24;0.145)|all_neural(223;0.237) BRCA - Breast invasive adenocarcinoma(274;5.01e-06)|Epithelial(105;0.000305)|all cancers(92;0.00303) tggtggtggtggttgttgtgg 0.433000 7 280 2.0095e-06 2.06136e-06 1 1 0 DMRT3 58524 broad.mit.edu 37 9 990458 990458 + Nonsense_Mutation SNP C C G TCGA-FZ-5921-01A-11D-1609-08 TCGA-FZ-5921-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f bb5bc26c-759d-45eb-b733-3157252f6716 g.chr9:990458C>G ENST00000190165.2 + 2 910 c.872C>G c.(871-873)tCa>tGa p.S291* NM_021240.2 NP_067063.1 Q9NQL9 DMRT3_HUMAN doublesex and mab-3 related transcription factor 3 291 cell differentiation|multicellular organismal development|sex differentiation nucleus DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1) 26 all_lung(10;1.39e-08)|Lung NSC(10;1.42e-08) Lung(218;0.0196) AGCCGATCCTCAGTCACGGGA 0.582000 26 368 0 0 1 0 0 AHNAK2 113146 broad.mit.edu 37 14 105419058 105419058 + Silent SNP G G A rs149453124 by1000genomes TCGA-FZ-5921-01A-11D-1609-08 TCGA-FZ-5921-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f bb5bc26c-759d-45eb-b733-3157252f6716 g.chr14:105419058G>A ENST00000333244.5 - 7 2849 c.2730C>T c.(2728-2730)gcC>gcT p.A910A AHNAK2_ENST00000557457.1_Intron NM_138420.2 NP_612429.2 Q8IVF2 AHNK2_HUMAN AHNAK nucleoprotein 2 910 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) CTTTGGGGCCGGCTCCCTCGG 0.617000 111 1325 0 0 1 0 0 AP1G2 8906 broad.mit.edu 37 14 24033838 24033838 + Missense_Mutation SNP G G A TCGA-FZ-5921-01A-11D-1609-08 TCGA-FZ-5921-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f bb5bc26c-759d-45eb-b733-3157252f6716 g.chr14:24033838G>A ENST00000308724.5 - 8 1609 c.854C>T c.(853-855)gCc>gTc p.A285V AP1G2_ENST00000556277.1_5'UTR|RP11-66N24.3_ENST00000555968.1_RNA|AP1G2_ENST00000397120.3_Missense_Mutation_p.A285V NM_003917.2 NP_003908.1 O75843 AP1G2_HUMAN adaptor-related protein complex 1, gamma 2 subunit 285 interspecies interaction between organisms|intracellular protein transport|vesicle-mediated transport AP-1 adaptor complex|endosome membrane protein binding|protein transporter activity breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(10)|lung(4)|ovary(1)|pancreas(1)|stomach(1) 28 all_cancers(95;0.000251) GBM - Glioblastoma multiforme(265;0.00672) CGCATTTCCGGCATTTCGGCT 0.547000 5 270 0 0 1 0 0 GRIA1 0 broad.mit.edu 37 5 153054198 153054198 + Missense_Mutation SNP C C T TCGA-FZ-5921-01A-11D-1609-08 TCGA-FZ-5921-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f bb5bc26c-759d-45eb-b733-3157252f6716 g.chr5:153054198C>T ENST00000285900.5 + 6 1181 c.838C>T c.(838-840)Cgg>Tgg p.R280W GRIA1_ENST00000521843.2_Missense_Mutation_p.R211W|GRIA1_ENST00000518783.1_Missense_Mutation_p.R290W|GRIA1_ENST00000448073.4_Missense_Mutation_p.R290W|GRIA1_ENST00000340592.5_Missense_Mutation_p.R280W|GRIA1_ENST00000518142.1_Missense_Mutation_p.R200W NM_000827.3|NM_001258019.1 NP_000818.2|NP_001244948.1 P42261 GRIA1_HUMAN glutamate receptor, ionotropic, AMPA 1 280 synaptic transmission alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity|PDZ domain binding NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2) 81 Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21) Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785) Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236) AGACCACACACGGGTGGACTG 0.557000 47 332 0 0 1 0 0 C16orf46 123775 broad.mit.edu 37 16 81095233 81095233 + Silent SNP G G A TCGA-FZ-5921-01A-11D-1609-08 TCGA-FZ-5921-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f bb5bc26c-759d-45eb-b733-3157252f6716 g.chr16:81095233G>A ENST00000378611.4 - 3 836 c.721C>T c.(721-723)Ctg>Ttg p.L241L C16orf46_ENST00000299578.5_Silent_p.L241L|RP11-303E16.8_ENST00000564536.1_RNA NM_001100873.1 NP_001094343.1 Q6P387 CP046_HUMAN chromosome 16 open reading frame 46 241 NS(1)|endometrium(2)|large_intestine(3)|lung(9)|prostate(1)|stomach(1)|urinary_tract(1) 18 TCCACATCCAGCACCTTCTCT 0.468000 68 810 0 0 1 0 0 PCDHB14 0 broad.mit.edu 37 5 140604077 140604077 + Silent SNP C C T TCGA-FZ-5921-01A-11D-1609-08 TCGA-FZ-5921-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f bb5bc26c-759d-45eb-b733-3157252f6716 g.chr5:140604077C>T ENST00000239449.4 + 1 1000 c.1000C>T c.(1000-1002)Cta>Tta p.L334L PCDHB14_ENST00000515856.2_Silent_p.L181L NM_018934.2 NP_061757.1 Q9Y5E9 PCDBE_HUMAN 334 Cadherin 3. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to membrane|plasma membrane calcium ion binding NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(21)|ovary(2)|prostate(3)|skin(6)|urinary_tract(1) 49 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) ATGCACCCTTCTAGTTAAAGT 0.408000 6 418 0 0 1 0 0 U2AF2 11338 broad.mit.edu 37 19 56171880 56171880 + Splice_Site SNP A A C TCGA-FZ-5921-01A-11D-1609-08 TCGA-FZ-5921-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f bb5bc26c-759d-45eb-b733-3157252f6716 g.chr19:56171880A>C ENST00000450554.2 + 4 1189 c.e4-1 U2AF2_ENST00000308924.4_Splice_Site NM_001012478.1|NM_007279.2 NP_001012496.1|NP_009210.1 P26368 U2AF2_HUMAN U2 small nuclear RNA auxiliary factor 2 mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription nucleoplasm|spliceosomal complex enzyme binding|nucleotide binding|RNA binding p.?(2) biliary_tract(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|urinary_tract(2) 21 Colorectal(82;0.00244)|Ovarian(87;0.133) BRCA - Breast invasive adenocarcinoma(297;0.18) GBM - Glioblastoma multiforme(193;0.107) CACCTCCCCCAGTCGTTCCCC 0.637000 10 76 0 0 1 0 0 CXXC11 285093 broad.mit.edu 37 2 242814188 242814188 + Missense_Mutation SNP G G A TCGA-FZ-5921-01A-11D-1609-08 TCGA-FZ-5921-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f bb5bc26c-759d-45eb-b733-3157252f6716 g.chr2:242814188G>A ENST00000343216.3 + 2 509 c.481G>A c.(481-483)Gcc>Acc p.A161T NM_173821.2 NP_776182.2 Q14D33 CB085_HUMAN CXXC finger protein 11 161 integral to membrane CCCAGACCCCGCCTGGAGCGC 0.706000 6 64 0 0 1 0 0 DMRT3 58524 broad.mit.edu 37 9 990525 990525 + Missense_Mutation SNP C C G TCGA-FZ-5921-01A-11D-1609-08 TCGA-FZ-5921-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f bb5bc26c-759d-45eb-b733-3157252f6716 g.chr9:990525C>G ENST00000190165.2 + 2 977 c.939C>G c.(937-939)atC>atG p.I313M NM_021240.2 NP_067063.1 Q9NQL9 DMRT3_HUMAN doublesex and mab-3 related transcription factor 3 313 cell differentiation|multicellular organismal development|sex differentiation nucleus DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1) 26 all_lung(10;1.39e-08)|Lung NSC(10;1.42e-08) Lung(218;0.0196) ATGGGCACATCTTTGAACACA 0.557000 11 303 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179470381 179470381 + Missense_Mutation SNP G G C TCGA-FZ-5921-01A-11D-1609-08 TCGA-FZ-5921-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f bb5bc26c-759d-45eb-b733-3157252f6716 g.chr2:179470381G>C ENST00000589042.1 - 279 53865 c.53641C>G c.(53641-53643)Ctt>Gtt p.L17881V TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.L8941V|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.L15313V|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.L16240V|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.L9008V|TTN_ENST00000460472.2_Missense_Mutation_p.L8816V NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 16240 Fibronectin type-III 29. 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) TTCCAGTCAAGTGTGATAGTG 0.438000 5 307 0 0 1 0 0 QRICH2 84074 broad.mit.edu 37 17 74289257 74289257 + Missense_Mutation SNP C C A TCGA-FZ-5921-01A-11D-1609-08 TCGA-FZ-5921-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f bb5bc26c-759d-45eb-b733-3157252f6716 g.chr17:74289257C>A ENST00000262765.5 - 4 1232 c.1053G>T c.(1051-1053)ttG>ttT p.L351F NM_032134.1 NP_115510.1 Q9H0J4 QRIC2_HUMAN glutamine rich 2 351 protein binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(2)|stomach(4) 62 CGACGACAGGCAATGTCAATC 0.483000 97 415 4.08182e-41 4.44527e-41 1 1 0 EN1 2019 broad.mit.edu 37 2 119604052 119604052 + Missense_Mutation SNP C C T TCGA-FZ-5921-01A-11D-1609-08 TCGA-FZ-5921-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f bb5bc26c-759d-45eb-b733-3157252f6716 g.chr2:119604052C>T ENST00000295206.6 - 1 1202 c.692G>A c.(691-693)gGc>gAc p.G231D NM_001426.3 NP_001417.3 Q05925 HME1_HUMAN engrailed homeobox 1 231 Poly-Gly. skeletal system development nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity endometrium(1)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(1) 9 GCTCCCCGCGCCGCCTCCACT 0.766000 15 84 0 0 1 0 0 DMRT3 58524 broad.mit.edu 37 9 990980 990980 + Missense_Mutation SNP C C G TCGA-FZ-5921-01A-11D-1609-08 TCGA-FZ-5921-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f bb5bc26c-759d-45eb-b733-3157252f6716 g.chr9:990980C>G ENST00000190165.2 + 2 1432 c.1394C>G c.(1393-1395)tCt>tGt p.S465C NM_021240.2 NP_067063.1 Q9NQL9 DMRT3_HUMAN doublesex and mab-3 related transcription factor 3 465 cell differentiation|multicellular organismal development|sex differentiation nucleus DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1) 26 all_lung(10;1.39e-08)|Lung NSC(10;1.42e-08) Lung(218;0.0196) TCCTCAGACTCTAGAACACTC 0.512000 44 563 0 0 1 0 0 CROCCP2 0 broad.mit.edu 37 1 16955029 16955029 + RNA SNP C C T TCGA-FZ-5921-01A-11D-1609-08 TCGA-FZ-5921-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f bb5bc26c-759d-45eb-b733-3157252f6716 g.chr1:16955029C>T ENST00000412962.1 - 0 410 TTCCTCCAGCCGGTCCCGCTG 0.682000 4 31 0 0 1 0 0 PACSIN2 11252 broad.mit.edu 37 22 43272926 43272926 + Silent SNP G G A TCGA-FZ-5921-01A-11D-1609-08 TCGA-FZ-5921-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f bb5bc26c-759d-45eb-b733-3157252f6716 g.chr22:43272926G>A ENST00000263246.3 - 9 1320 c.1119C>T c.(1117-1119)acC>acT p.T373T PACSIN2_ENST00000402229.1_Silent_p.T373T|PACSIN2_ENST00000496919.1_5'UTR|PACSIN2_ENST00000407585.1_Intron|PACSIN2_ENST00000403744.3_Silent_p.T373T|PACSIN2_ENST00000337959.4_Intron NM_001184970.1 NP_001171899.1 Q9UNF0 PACN2_HUMAN protein kinase C and casein kinase substrate in neurons 2 373 actin cytoskeleton organization|endocytosis cytoplasmic membrane-bounded vesicle transporter activity NS(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(3)|prostate(2)|upper_aerodigestive_tract(1) 19 Glioma(61;0.222) TCTCACTGACGGTGCTGCCCG 0.567000 167 622 0 0 1 0 0 SDHAP1 0 broad.mit.edu 37 3 195717061 195717061 + RNA SNP C C A TCGA-FZ-5921-01A-11D-1609-08 TCGA-FZ-5921-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f bb5bc26c-759d-45eb-b733-3157252f6716 g.chr3:195717061C>A ENST00000427841.1 - 0 89 NR_003264.2 AGGGACTCACCGCCTTGGCCA 0.791000 7 25 5.18039e-06 5.28001e-06 1 1 0 LAMA1 284217 broad.mit.edu 37 18 7036029 7036029 + Missense_Mutation SNP G G A rs148234507 byFrequency TCGA-FZ-5921-01A-11D-1609-08 TCGA-FZ-5921-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f bb5bc26c-759d-45eb-b733-3157252f6716 g.chr18:7036029G>A ENST00000389658.3 - 13 1889 c.1796C>T c.(1795-1797)aCg>aTg p.T599M NM_005559.3 NP_005550.2 P25391 LAMA1_HUMAN laminin, alpha 1 599 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) ACTGTCTACCGTCTCTACCGG 0.448000 22 235 0 0 1 0 0 IQSEC1 9922 broad.mit.edu 37 3 12983364 12983364 + Splice_Site SNP C C T TCGA-FZ-5921-01A-11D-1609-08 TCGA-FZ-5921-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f bb5bc26c-759d-45eb-b733-3157252f6716 g.chr3:12983364C>T ENST00000273221.4 - 2 283 c.65_splice c.e2-1 p.V23_splice IQSEC1_ENST00000473088.1_5'UTR NM_014869.5 NP_055684.3 Q6DN90 IQEC1_HUMAN IQ motif and Sec7 domain 1 23 regulation of ARF protein signal transduction cytoplasm|nucleus ARF guanyl-nucleotide exchange factor activity breast(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 24 TCGCCCTCGACGCTGCAGAGG 0.672000 7 49 0 0 1 0 0 SYF2 25949 broad.mit.edu 37 1 25555531 25555531 + Frame_Shift_Del DEL T T - TCGA-FZ-5921-01A-11D-1609-08 TCGA-FZ-5921-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f bb5bc26c-759d-45eb-b733-3157252f6716 g.chr1:25555531delT ENST00000236273.4 - 3 241 c.216delA c.(214-216)aafs p.K72fs SYF2_ENST00000354361.3_Intron NM_015484.4 NP_056299.1 O95926 SYF2_HUMAN SYF2 pre-mRNA-splicing factor 72 catalytic step 2 spliceosome kidney(1)|large_intestine(1)|lung(4) 6 Colorectal(325;3.46e-05)|Lung NSC(340;0.000245)|all_lung(284;0.000335)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0101)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936) UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.5e-26)|Colorectal(126;2.54e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000455)|STAD - Stomach adenocarcinoma(196;0.000766)|KIRC - Kidney renal clear cell carcinoma(1967;0.00145)|GBM - Glioblastoma multiforme(114;0.00443)|READ - Rectum adenocarcinoma(331;0.0936)|Lung(427;0.201) CCAAACGAGCTTTTTTGGCTT 0.348 7 657 --- --- --- --- NBPF10 100132406 broad.mit.edu 37 1 145367736 145367737 + Frame_Shift_Ins INS - - A TCGA-FZ-5921-01A-11D-1609-08 TCGA-FZ-5921-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f bb5bc26c-759d-45eb-b733-3157252f6716 g.chr1:145367736_145367737insA ENST00000342960.5 + 83 10367_10368 c.10332_10333insA c.(10330-10335)ggaaaafs p.GK3444fs NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.2_Intron NM_001039703.4 NP_001034792.4 A6NDV3 A6NDV3_HUMAN neuroblastoma breakpoint family, member 10 3444 NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2) 73 all_hematologic(923;0.032) Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258) aggggaaggggaaaaaaagaag 0.416 7 622 --- --- --- --- PI4KB 5298 broad.mit.edu 37 1 151265430 151265432 + In_Frame_Del DEL CTC CTC - TCGA-FZ-5921-01A-11D-1609-08 TCGA-FZ-5921-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f bb5bc26c-759d-45eb-b733-3157252f6716 g.chr1:151265430_151265432delCTC ENST00000368875.2 - 13 2963_2965 c.2383_2385delGAG c.(2383-2385)del p.E795del PI4KB_ENST00000271657.5_In_Frame_Del_p.E795del|PI4KB_ENST00000529142.1_In_Frame_Del_p.E451del|PI4KB_ENST00000368874.4_In_Frame_Del_p.E768del|PI4KB_ENST00000368872.1_In_Frame_Del_p.E768del|PI4KB_ENST00000368873.1_In_Frame_Del_p.E783del NM_002651.2 NP_002642.1 Q9UBF8 PI4KB_HUMAN phosphatidylinositol 4-kinase, catalytic, beta 783 phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling|receptor-mediated endocytosis endosome|Golgi apparatus|mitochondrial outer membrane|perinuclear region of cytoplasm|rough endoplasmic reticulum membrane 1-phosphatidylinositol 4-kinase activity|ATP binding|protein binding breast(3)|endometrium(5)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 27 Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181) GCTGCAGCTGCTCCTCAGTCATG 0.542 62 381 --- --- --- --- SLC11A1 6556 broad.mit.edu 37 2 219252307 219252307 + Frame_Shift_Del DEL T T - TCGA-FZ-5921-01A-11D-1609-08 TCGA-FZ-5921-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f bb5bc26c-759d-45eb-b733-3157252f6716 g.chr2:219252307delT ENST00000233202.6 + 7 931 c.591delT c.(589-591)gcfs p.A197fs SLC11A1_ENST00000539932.1_Frame_Shift_Del_p.A79fs NM_000578.3 NP_000569.3 P49279 NRAM1_HUMAN solute carrier family 11 (proton-coupled divalent metal ion transporter), member 1 197 activation of protein kinase activity|antigen processing and presentation of peptide antigen|cadmium ion transmembrane transport|cellular cadmium ion homeostasis|cellular iron ion homeostasis|defense response to Gram-negative bacterium|defense response to protozoan|divalent metal ion export|inflammatory response|interleukin-2 production|interleukin-3 production|iron ion transport|L-arginine import|macrophage activation|MHC class II biosynthetic process|mRNA stabilization|multicellular organismal iron ion homeostasis|negative regulation of cytokine production|nitrite transport|phagocytosis|positive regulation of dendritic cell antigen processing and presentation|positive regulation of interferon-gamma production|positive regulation of phagocytosis|positive regulation of T-helper 1 type immune response|positive regulation of transcription from RNA polymerase II promoter|respiratory burst|response to interferon-gamma|response to lipopolysaccharide|T cell cytokine production|T cell proliferation involved in immune response|vacuolar acidification|wound healing integral to plasma membrane|late endosome membrane|lysosome|phagocytic vesicle membrane|tertiary granule membrane manganese ion transmembrane transporter activity|metal ion:hydrogen antiporter activity|protein homodimerization activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1) 19 Renal(207;0.0474) Epithelial(149;1.16e-06)|all cancers(144;0.000195)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) AGCTGGAAGCTTTTTTTGGAC 0.448 8 2055 --- --- --- --- AC114765.1 0 broad.mit.edu 37 2 221183172 221183173 + RNA DEL AC AC - rs5838794 TCGA-FZ-5921-01A-11D-1609-08 TCGA-FZ-5921-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f bb5bc26c-759d-45eb-b733-3157252f6716 g.chr2:221183172_221183173delAC ENST00000432993.1 + 0 306 ccttgtgcctacacacacacac 0.525 2 4 --- --- --- --- FIP1L1 81608 broad.mit.edu 37 4 54319248 54319249 + Frame_Shift_Del DEL AG AG - TCGA-FZ-5921-01A-11D-1609-08 TCGA-FZ-5921-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f bb5bc26c-759d-45eb-b733-3157252f6716 g.chr4:54319248_54319249delAG ENST00000337488.6 + 16 1641_1642 c.1447_1448delAG c.(1447-1449)afs p.R483fs FIP1L1_ENST00000358575.5_Frame_Shift_Del_p.R477fs|FIP1L1_ENST00000306932.6_Frame_Shift_Del_p.R409fs|FIP1L1_ENST00000507166.1_Intron NM_030917.3 NP_112179.2 Q6UN15 FIP1_HUMAN factor interacting with PAPOLA and CPSF1 483 Arg-rich.|Glu-rich.|Sufficient for interaction with CPSF1 and CSTF3. mRNA processing nucleus RNA binding p.R487fs*3(2) large_intestine(3)|liver(1)|ovary(1)|skin(1) 6 GBM - Glioblastoma multiforme(3;3.31e-36)|LUSC - Lung squamous cell carcinoma(32;0.0134) agaACGCACCAGAGAGAGAGAG 0.470 T PDGFRA idiopathic hypereosinophilic syndrome 9 318 --- --- --- --- RP11-525J21.1 0 broad.mit.edu 37 4 60636292 60636293 + RNA DEL TG TG - rs34023080 TCGA-FZ-5921-01A-11D-1609-08 TCGA-FZ-5921-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f bb5bc26c-759d-45eb-b733-3157252f6716 g.chr4:60636292_60636293delTG ENST00000511603.1 - 0 341 CATGACAGAAtgtgtgtgtgtg 0.327 4 3 --- --- --- --- MAML3 55534 broad.mit.edu 37 4 140811064 140811072 + In_Frame_Del DEL TGCTGCTGC TGCTGCTGC - rs71855026 TCGA-FZ-5921-01A-11D-1609-08 TCGA-FZ-5921-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f bb5bc26c-759d-45eb-b733-3157252f6716 g.chr4:140811064_140811072delTGCTGCTGC ENST00000509479.2 - 2 2374_2382 c.1518_1526delGCAGCAGCA c.(1516-1527)caa>ca p.QQQQ506del MAML3_ENST00000327122.5_In_Frame_Del_p.QQQQ350del|MAML3_ENST00000398940.1_Splice_Site_p.37_splice NM_018717.4 NP_061187.2 Q96JK9 MAML3_HUMAN mastermind-like 3 (Drosophila) 506 Gln-rich. Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nuclear speck transcription coactivator activity breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2) 25 all_hematologic(180;0.162) TGAGtgctgttgctgctgctgctgctgct 0.517 9 401 --- --- --- --- CSNK1G3 1456 broad.mit.edu 37 5 122881495 122881495 + Frame_Shift_Del DEL A A - TCGA-FZ-5921-01A-11D-1609-08 TCGA-FZ-5921-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f bb5bc26c-759d-45eb-b733-3157252f6716 g.chr5:122881495delA ENST00000395412.1 + 2 857 c.138delA c.(136-138)ggfs p.G46fs CSNK1G3_ENST00000361991.2_Frame_Shift_Del_p.G46fs|CSNK1G3_ENST00000508708.1_3'UTR|CSNK1G3_ENST00000521364.1_Frame_Shift_Del_p.G46fs|CSNK1G3_ENST00000511130.2_Intron|CSNK1G3_ENST00000345990.4_Frame_Shift_Del_p.G46fs|CSNK1G3_ENST00000395411.1_Frame_Shift_Del_p.G46fs|CSNK1G3_ENST00000512718.3_Intron|CSNK1G3_ENST00000360683.2_Frame_Shift_Del_p.G46fs|CSNK1G3_ENST00000510842.2_Frame_Shift_Del_p.G46fs NM_001044723.1 NP_001038188.1 Q9Y6M4 KC1G3_HUMAN casein kinase 1, gamma 3 46 Protein kinase. Wnt receptor signaling pathway cytoplasm ATP binding|protein serine/threonine kinase activity autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(3)|prostate(1)|skin(1) 15 all_cancers(142;0.0156)|Prostate(80;0.0322)|Lung NSC(810;0.245) KIRC - Kidney renal clear cell carcinoma(527;0.165)|Kidney(363;0.229) OV - Ovarian serous cystadenocarcinoma(64;0.000121)|Epithelial(69;0.000227)|all cancers(49;0.00176) TTAGAGTTGGAAAAAAAATTG 0.363 7 497 --- --- --- --- HDGFL1 154150 broad.mit.edu 37 6 22570346 22570347 + In_Frame_Ins INS - - GGC TCGA-FZ-5921-01A-11D-1609-08 TCGA-FZ-5921-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f bb5bc26c-759d-45eb-b733-3157252f6716 g.chr6:22570346_22570347insGGC ENST00000510882.2 + 1 552_553 c.542_543insGGC c.(541-543)agc>aGGCgc p.181_181S>RR HDGFL1_ENST00000230012.3_In_Frame_Ins_p.181_181S>RR Q5TGJ6 HDGL1_HUMAN hepatoma derived growth factor-like 1 181 Ala-rich.|Glu-rich. kidney(1)|large_intestine(3)|lung(7) 11 Ovarian(93;0.163) gaagcggagagggcggcggcgg 0.767 5 6 --- --- --- --- ZMIZ2 83637 broad.mit.edu 37 7 44805118 44805119 + Frame_Shift_Ins INS - - C TCGA-FZ-5921-01A-11D-1609-08 TCGA-FZ-5921-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f bb5bc26c-759d-45eb-b733-3157252f6716 g.chr7:44805118_44805119insC ENST00000309315.4 + 16 2305_2306 c.2182_2183insC c.(2182-2184)cccfs p.P728fs ZMIZ2_ENST00000433667.1_Frame_Shift_Ins_p.P696fs|ZMIZ2_ENST00000265346.7_Frame_Shift_Ins_p.P702fs|ZMIZ2_ENST00000413916.1_Frame_Shift_Ins_p.P670fs|ZMIZ2_ENST00000441627.1_Frame_Shift_Ins_p.P728fs NM_031449.3 NP_113637.3 Q8NF64 ZMIZ2_HUMAN zinc finger, MIZ-type containing 2 728 Pro-rich. positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nuclear replication fork ligand-dependent nuclear receptor transcription coactivator activity|protein binding|zinc ion binding breast(3)|endometrium(2)|kidney(3)|large_intestine(6)|lung(10)|ovary(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 35 CCCCGGCGCTGCCCCCTTTGCC 0.698 10 88 --- --- --- --- PCLO 27445 broad.mit.edu 37 7 82595385 82595385 + Frame_Shift_Del DEL T T - TCGA-FZ-5921-01A-11D-1609-08 TCGA-FZ-5921-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f bb5bc26c-759d-45eb-b733-3157252f6716 g.chr7:82595385delT ENST00000423517.2 - 4 4056 c.3719delA c.(3718-3720)agfs p.K1240fs PCLO_ENST00000333891.8_Frame_Shift_Del_p.K1240fs NM_014510.2 NP_055325.2 Q9Y6V0 PCLO_HUMAN piccolo presynaptic cytomatrix protein 1179 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 AGGGGTTGGCTTTTTTTCTTC 0.383 8 1670 --- --- --- --- SFTPC 6440 broad.mit.edu 37 8 22020159 22020161 + In_Frame_Del DEL GTG GTG - TCGA-FZ-5921-01A-11D-1609-08 TCGA-FZ-5921-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f bb5bc26c-759d-45eb-b733-3157252f6716 g.chr8:22020159_22020161delGTG ENST00000521315.1 + 2 147_149 c.115_117delGTG c.(115-117)del p.V44del SFTPC_ENST00000318561.3_In_Frame_Del_p.V44del|SFTPC_ENST00000524255.1_Intron|SFTPC_ENST00000520605.1_Intron|SFTPC_ENST00000437090.2_In_Frame_Del_p.V44del|SFTPC_ENST00000522109.1_In_Frame_Del_p.V44del P11686 PSPC_HUMAN surfactant protein C 44 respiratory gaseous exchange extracellular space autonomic_ganglia(1)|large_intestine(1)|lung(1) 3 Colorectal(74;0.00191)|COAD - Colon adenocarcinoma(73;0.0615)|READ - Rectum adenocarcinoma(644;0.1) CCTTCTTATCGTGGTGGTGGTGG 0.601 7 767 --- --- --- --- RP11-10H3.1 0 broad.mit.edu 37 8 50103352 50103355 + RNA DEL CCTC CCTC - rs77568781 TCGA-FZ-5921-01A-11D-1609-08 TCGA-FZ-5921-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f bb5bc26c-759d-45eb-b733-3157252f6716 g.chr8:50103352_50103355delCCTC ENST00000518222.1 + 0 271 ttctttccttcctccctccctccc 0.402 8 20 --- --- --- --- ZNF503 84858 broad.mit.edu 37 10 77161100 77161101 + In_Frame_Ins INS - - CCGCCTCCGCCT rs72126859 TCGA-FZ-5921-01A-11D-1609-08 TCGA-FZ-5921-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f bb5bc26c-759d-45eb-b733-3157252f6716 g.chr10:77161100_77161101insCCGCCTCCGCCT ENST00000372524.4 - 1 563_564 c.77_78insAGGCGGAGGCGG c.(76-78)ggg>gAGGCGGAGGCGGgg p.25_26insEAEA ZNF503_ENST00000535216.1_In_Frame_Ins_p.25_26insEAEA NM_032772.4 NP_116161.2 Q96F45 ZN503_HUMAN zinc finger protein 503 25 Gly-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding|zinc ion binding lung(4)|ovary(1)|skin(1) 6 all_cancers(46;0.105)|all_epithelial(25;0.00449)|Prostate(51;0.0112)|Ovarian(15;0.088) GGTCTGCAccgccgcctccgcc 0.713 7 25 --- --- --- --- GRIN2B 2904 broad.mit.edu 37 12 13768140 13768141 + Frame_Shift_Ins INS - - C TCGA-FZ-5921-01A-11D-1609-08 TCGA-FZ-5921-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f bb5bc26c-759d-45eb-b733-3157252f6716 g.chr12:13768140_13768141insC ENST00000279593.3 - 7 1770_1771 c.1561_1562insG c.(1561-1563)ggtfs p.G521fs NM_000834.3 NP_000825.2 Q13224 NMDE2_HUMAN glutamate receptor, ionotropic, N-methyl D-aspartate 2B 521 response to ethanol cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding p.E521K(1) NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1) 143 Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043) GTCGACCACCTCCGATCGTTCC 0.500 9 362 --- --- --- --- TMBIM4 51643 broad.mit.edu 37 12 66531937 66531937 + Frame_Shift_Del DEL A A - TCGA-FZ-5921-01A-11D-1609-08 TCGA-FZ-5921-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f bb5bc26c-759d-45eb-b733-3157252f6716 g.chr12:66531937delA ENST00000358230.3 - 7 640 c.520delT c.(520-522)atfs p.Y174fs TMBIM4_ENST00000542724.1_Frame_Shift_Del_p.Y143fs|TMBIM4_ENST00000286424.7_Frame_Shift_Del_p.Y221fs|TMBIM4_ENST00000398033.4_Frame_Shift_Del_p.F158fs|TMBIM4_ENST00000544599.1_5'UTR|TMBIM4_ENST00000556010.1_Intron|TMBIM4_ENST00000539652.1_Intron NM_016056.2 NP_057140.2 Q9HC24 TMBI4_HUMAN transmembrane BAX inhibitor motif containing 4 174 integral to membrane protein binding central_nervous_system(1)|endometrium(1)|large_intestine(4)|ovary(1)|prostate(2) 9 GBM - Glioblastoma multiforme(28;0.0745) ATCTCACTATAAAAAAAAAAC 0.353 7 193 --- --- --- --- LINC00381 0 broad.mit.edu 37 13 74993520 74993535 + RNA DEL CTTCCTTCCTTCCTTT CTTCCTTCCTTCCTTT - rs71870153 by1000genomes TCGA-FZ-5921-01A-11D-1609-08 TCGA-FZ-5921-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f bb5bc26c-759d-45eb-b733-3157252f6716 g.chr13:74993520_74993535delCTTCCTTCCTTCCTTT ENST00000423629.1 + 0 56 NR_047005.1 ccctcccttccttccttccttcctttcttccttcct 0.542 7 26 --- --- --- --- RP11-305B6.3 0 broad.mit.edu 37 14 44690412 44690415 + RNA DEL GAAG GAAG - rs72383008 TCGA-FZ-5921-01A-11D-1609-08 TCGA-FZ-5921-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f bb5bc26c-759d-45eb-b733-3157252f6716 g.chr14:44690412_44690415delGAAG ENST00000553827.1 - 0 69 GTAGAAAGAAgaaggaaggaagga 0.412 4 7 --- --- --- --- IGHV4-39 0 broad.mit.edu 37 14 106877821 106877826 + RNA DEL CTACTG CTACTG - TCGA-FZ-5921-01A-11D-1609-08 TCGA-FZ-5921-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f bb5bc26c-759d-45eb-b733-3157252f6716 g.chr14:106877821_106877826delCTACTG ENST00000390619.2 - 0 217_222 GTAGTAACTACTACTGCTGATGGAGC 0.607 12 422 --- --- --- --- CTD-2008A1.1 0 broad.mit.edu 37 15 45119226 45119227 + RNA INS - - TG TCGA-FZ-5921-01A-11D-1609-08 TCGA-FZ-5921-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f bb5bc26c-759d-45eb-b733-3157252f6716 g.chr15:45119226_45119227insTG ENST00000558419.1 + 0 358_359 GATCCCGAGACTGGGGATGAGG 0.446 2 4 --- --- --- --- ATP8B4 79895 broad.mit.edu 37 15 50193367 50193368 + Frame_Shift_Ins INS - - T TCGA-FZ-5921-01A-11D-1609-08 TCGA-FZ-5921-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f bb5bc26c-759d-45eb-b733-3157252f6716 g.chr15:50193367_50193368insT ENST00000284509.6 - 21 2351_2352 c.2210_2211insA c.(2209-2211)acafs p.T737fs ATP8B4_ENST00000559829.1_Frame_Shift_Ins_p.T737fs NM_024837.2 NP_079113.2 Q8TF62 AT8B4_HUMAN ATPase, class I, type 8B, member 4 737 ATP biosynthetic process integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity breast(6)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|urinary_tract(1) 73 all_lung(180;0.00183) all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05) CCAGCTGCTGCTTTTTTTCACA 0.361 42 252 --- --- --- --- AC002519.6 0 broad.mit.edu 37 16 31815184 31815185 + RNA INS - - AC rs10655372 by1000genomes TCGA-FZ-5921-01A-11D-1609-08 TCGA-FZ-5921-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f bb5bc26c-759d-45eb-b733-3157252f6716 g.chr16:31815184_31815185insAC ENST00000569756.1 + 0 413 Tacacacacatacacacacaca 0.391 4 6 --- --- --- --- RP11-361L15.4 0 broad.mit.edu 37 16 66982429 66982430 + RNA INS - - T TCGA-FZ-5921-01A-11D-1609-08 TCGA-FZ-5921-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f bb5bc26c-759d-45eb-b733-3157252f6716 g.chr16:66982429_66982430insT ENST00000566869.1 + 0 147 ACCAACCCACCTTTCCCGGCCC 0.673 22 315 --- --- --- --- RP11-879D6.1 0 broad.mit.edu 37 17 69096441 69096444 + RNA DEL ACAC ACAC - rs56101558 TCGA-FZ-5921-01A-11D-1609-08 TCGA-FZ-5921-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f bb5bc26c-759d-45eb-b733-3157252f6716 g.chr17:69096441_69096444delACAC ENST00000569074.1 - 0 215 acacacacatacacacacacacac 0.422 5 5 --- --- --- --- GRIN2C 2905 broad.mit.edu 37 17 72839130 72839131 + In_Frame_Ins INS - - GCTCCGGGG rs67510083 by1000genomes TCGA-FZ-5921-01A-11D-1609-08 TCGA-FZ-5921-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f bb5bc26c-759d-45eb-b733-3157252f6716 g.chr17:72839130_72839131insGCTCCGGGG ENST00000293190.5 - 13 3291_3292 c.3145_3146insCCCCGGAGC c.(3145-3147)gga>CCCCGGAGCgga p.1048_1049insPRS NM_000835.3 NP_000826.2 Q14957 NMDE3_HUMAN glutamate receptor, ionotropic, N-methyl D-aspartate 2C 1048 E -> EPPE (in Ref. 3; AAI40802). glutamate signaling pathway cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane extracellular-glutamate-gated ion channel activity|N-methyl-D-aspartate selective glutamate receptor activity NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(15)|ovary(2)|skin(2)|urinary_tract(1) 33 all_lung(278;0.172)|Lung NSC(278;0.207) Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836) CAGGTCCTCCAGCTCCGGGAAG 0.762 3 2 --- --- --- --- LYPD3 27076 broad.mit.edu 37 19 43969653 43969655 + In_Frame_Del DEL AGC AGC - rs141441894 byFrequency TCGA-FZ-5921-01A-11D-1609-08 TCGA-FZ-5921-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f bb5bc26c-759d-45eb-b733-3157252f6716 g.chr19:43969653_43969655delAGC ENST00000244333.3 - 1 157_159 c.69_71delGCT c.(67-72)ctt>ct p.LL23del NM_014400.2 NP_055215.2 O95274 LYPD3_HUMAN LY6/PLAUR domain containing 3 23 anchored to plasma membrane cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|pancreas(1)|upper_aerodigestive_tract(2) 11 Prostate(69;0.0153) ACCTCCGCGAAGCAGCAGCAGCA 0.675 12 886 --- --- --- --- APCDD1L-AS1 0 broad.mit.edu 37 20 57159887 57159888 + RNA INS - - CTTC rs142796198 by1000genomes TCGA-FZ-5921-01A-11D-1609-08 TCGA-FZ-5921-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f bb5bc26c-759d-45eb-b733-3157252f6716 g.chr20:57159887_57159888insCTTC ENST00000427140.1 + 0 943 NR_034147.1 ctcccttctttcttccttcctt 0.535 16 27 --- --- --- --- BIK 638 broad.mit.edu 37 22 43525245 43525247 + In_Frame_Del DEL GCT GCT - TCGA-FZ-5921-01A-11D-1609-08 TCGA-FZ-5921-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f bb5bc26c-759d-45eb-b733-3157252f6716 g.chr22:43525245_43525247delGCT ENST00000216115.2 + 5 480_482 c.417_419delGCT c.(415-420)gcg>gc p.AL139del NM_001197.4 NP_001188.1 Q13323 BIK_HUMAN BCL2-interacting killer (apoptosis-inducing) 139 Leucine-zipper (Potential). apoptosis|induction of apoptosis|positive regulation of protein homooligomerization|positive regulation of release of cytochrome c from mitochondria endomembrane system|integral to membrane breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|urinary_tract(1) 5 Ovarian(80;0.0694) tgctgctggcgctgctgctgctg 0.724 7 397 --- --- --- ---