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 GZMM 3004 broad.mit.edu 37 19 547312 547312 + Missense_Mutation SNP C C T TCGA-ET-A3DV-01A-12D-A202-08 TCGA-ET-A3DV-11A-11D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5deeaa45-4c1b-4ab2-a487-93c548838f68 bba5ac91-59b6-4cae-9199-e31d43571f57 g.chr19:547312C>T ENST00000264553.3 + 2 126 c.88C>T c.(88-90)Cgg>Tgg p.R30W NM_001258351.1|NM_005317.3 NP_001245280.1|NP_005308.1 P51124 GRAM_HUMAN granzyme M (lymphocyte met-ase 1) 30 Peptidase S1. apoptosis|cytolysis|innate immune response|proteolysis extracellular region serine-type endopeptidase activity endometrium(1)|large_intestine(1)|prostate(1) 3 all_cancers(10;1.94e-35)|all_epithelial(18;5.94e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) CATCGGGGGCCGGGAGGTGAT 0.647000 78 84 0 0 0.014410 0 0 TP73 7161 broad.mit.edu 37 1 3624240 3624240 + Missense_Mutation SNP C C T TCGA-ET-A3DV-01A-12D-A202-08 TCGA-ET-A3DV-11A-11D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5deeaa45-4c1b-4ab2-a487-93c548838f68 bba5ac91-59b6-4cae-9199-e31d43571f57 g.chr1:3624240C>T ENST00000378295.4 + 4 469 c.314C>T c.(313-315)aCc>aTc p.T105I TP73_ENST00000604479.1_Missense_Mutation_p.T105I|TP73_ENST00000378280.1_Missense_Mutation_p.T56I|TP73_ENST00000354437.4_Missense_Mutation_p.T105I|TP73_ENST00000604074.1_Missense_Mutation_p.T105I|TP73_ENST00000378285.1_Missense_Mutation_p.T56I|TP73_ENST00000603362.1_Missense_Mutation_p.T105I|TP73_ENST00000378288.4_Missense_Mutation_p.T56I|TP73_ENST00000378290.4_Missense_Mutation_p.T34I|TP73_ENST00000357733.3_Missense_Mutation_p.T105I|TP73_ENST00000346387.4_Missense_Mutation_p.T105I NM_001204185.1|NM_005427.3 NP_001191114.1|NP_005418.1 O15350 P73_HUMAN tumor protein p73 105 cellular response to UV|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|mismatch repair|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of JUN kinase activity|negative regulation of neuron apoptosis|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|protein tetramerization|response to gamma radiation|response to X-ray chromatin|cytosol|transcription factor complex chromatin binding|damaged DNA binding|double-stranded DNA binding|metal ion binding|p53 binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|transcription repressor activity breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|lung(8)|ovary(1)|prostate(1) 20 all_cancers(77;0.0395)|Ovarian(185;0.0634)|Lung NSC(156;0.188)|all_lung(157;0.198) all_epithelial(116;7.42e-17)|all_lung(118;1.86e-06)|Lung NSC(185;0.000163)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Lung SC(97;0.109)|Ovarian(437;0.127) Epithelial(90;5.57e-38)|OV - Ovarian serous cystadenocarcinoma(86;1.87e-22)|GBM - Glioblastoma multiforme(42;5.72e-16)|Colorectal(212;2.22e-05)|COAD - Colon adenocarcinoma(227;8.48e-05)|Kidney(185;0.000539)|BRCA - Breast invasive adenocarcinoma(365;0.000868)|STAD - Stomach adenocarcinoma(132;0.0072)|KIRC - Kidney renal clear cell carcinoma(229;0.00751)|Lung(427;0.226) CCCAGCTCCACCTTCGACACC 0.672000 36 53 0 0 0.005524 0 0 PNN 5411 broad.mit.edu 37 14 39650419 39650419 + Silent SNP T T C TCGA-ET-A3DV-01A-12D-A202-08 TCGA-ET-A3DV-11A-11D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5deeaa45-4c1b-4ab2-a487-93c548838f68 bba5ac91-59b6-4cae-9199-e31d43571f57 g.chr14:39650419T>C ENST00000216832.4 + 9 1573 c.1506T>C c.(1504-1506)ccT>ccC p.P502P PNN_ENST00000557680.1_Intron NM_002687.3 NP_002678.2 Q9H307 PININ_HUMAN pinin, desmosome associated protein 502 Gln-rich. cell adhesion|regulation of transcription, DNA-dependent|transcription, DNA-dependent catalytic step 2 spliceosome|desmosome|intermediate filament|nuclear speck DNA binding|protein binding|structural molecule activity breast(2)|endometrium(5)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(2)|stomach(1) 27 Hepatocellular(127;0.213) LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711) GBM - Glioblastoma multiforme(112;0.0119) CCTCTCAGCCTGAGGATTTGT 0.517000 3 131 0 0 0.009096 0 0 ZNF230 7773 broad.mit.edu 37 19 44515136 44515136 + Silent SNP A A G TCGA-ET-A3DV-01A-12D-A202-08 TCGA-ET-A3DV-11A-11D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5deeaa45-4c1b-4ab2-a487-93c548838f68 bba5ac91-59b6-4cae-9199-e31d43571f57 g.chr19:44515136A>G ENST00000429154.2 + 5 1173 c.945A>G c.(943-945)aaA>aaG p.K315K NM_006300.3 NP_006291.2 Q9UIE0 ZN230_HUMAN zinc finger protein 230 315 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(10)|skin(1)|stomach(3)|urinary_tract(2) 22 Prostate(69;0.0352) AGTGTGGAAAAGGCTTCACTG 0.423000 3 206 0 0 0.004672 0 0 TRIM13 10206 broad.mit.edu 37 13 50586828 50586828 + Missense_Mutation SNP A A G TCGA-ET-A3DV-01A-12D-A202-08 TCGA-ET-A3DV-11A-11D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5deeaa45-4c1b-4ab2-a487-93c548838f68 bba5ac91-59b6-4cae-9199-e31d43571f57 g.chr13:50586828A>G ENST00000378182.3 + 2 1490 c.752A>G c.(751-753)cAg>cGg p.Q251R TRIM13_ENST00000356017.4_Missense_Mutation_p.Q254R|TRIM13_ENST00000478111.1_Intron|TRIM13_ENST00000457662.2_Missense_Mutation_p.Q251R|TRIM13_ENST00000298772.5_Missense_Mutation_p.Q254R|TRIM13_ENST00000420995.2_Missense_Mutation_p.Q251R NM_001007278.1|NM_005798.3|NM_052811.2|NM_213590.1 NP_001007279.1|NP_005789.2|NP_434698.1|NP_998755.1 O60858 TRI13_HUMAN tripartite motif containing 13 251 anatomical structure morphogenesis|ER-associated protein catabolic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein autoubiquitination cytoplasm|endoplasmic reticulum membrane|integral to membrane protein binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding large_intestine(5)|lung(2)|ovary(2)|upper_aerodigestive_tract(1) 10 Acute lymphoblastic leukemia(7;3.41e-06)|Lung NSC(96;3.08e-05)|Breast(56;9.7e-05)|Prostate(109;0.00174)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19) GBM - Glioblastoma multiforme(99;1.53e-10)|COAD - Colon adenocarcinoma(199;0.205) TTTCTGCAACAGATGCAGGAG 0.413000 6 127 0 0 0.001984 0 0 KRTAP10-5 386680 broad.mit.edu 37 21 45999774 45999774 + Missense_Mutation SNP T T C TCGA-ET-A3DV-01A-12D-A202-08 TCGA-ET-A3DV-11A-11D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5deeaa45-4c1b-4ab2-a487-93c548838f68 bba5ac91-59b6-4cae-9199-e31d43571f57 g.chr21:45999774T>C ENST00000400372.1 - 1 707 c.682A>G c.(682-684)Ata>Gta p.I228V TSPEAR_ENST00000323084.4_Intron NM_198694.2 NP_941967.2 P60370 KR105_HUMAN keratin associated protein 10-5 228 22 X 5 AA repeats of C-C-X(3). keratin filament p.I228V(1) endometrium(2)|kidney(1)|lung(9)|prostate(1)|upper_aerodigestive_tract(1) 14 GGCCTGCATATGGGGCGGCAG 0.682000 3 144 0 0 0.004672 0 0 RABGAP1 23637 broad.mit.edu 37 9 125863904 125863904 + Silent SNP A A G TCGA-ET-A3DV-01A-12D-A202-08 TCGA-ET-A3DV-11A-11D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5deeaa45-4c1b-4ab2-a487-93c548838f68 bba5ac91-59b6-4cae-9199-e31d43571f57 g.chr9:125863904A>G ENST00000373647.4 + 25 3083 c.2949A>G c.(2947-2949)aaA>aaG p.K983K RABGAP1_ENST00000373643.5_Silent_p.K322K NM_012197.3 NP_036329.3 Q9Y3P9 RBGP1_HUMAN RAB GTPase activating protein 1 983 cell cycle centrosome|cytosol|microtubule associated complex Rab GTPase activator activity|tubulin binding breast(3)|endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(3)|prostate(4)|stomach(3)|upper_aerodigestive_tract(1) 41 GGCGTGTAAAAGGCATAAGCT 0.448000 3 68 0 0 0.004672 0 0 PPP2R1B 5519 broad.mit.edu 37 11 111625705 111625705 + Splice_Site SNP T T C TCGA-ET-A3DV-01A-12D-A202-08 TCGA-ET-A3DV-11A-11D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5deeaa45-4c1b-4ab2-a487-93c548838f68 bba5ac91-59b6-4cae-9199-e31d43571f57 g.chr11:111625705T>C ENST00000527614.1 - 7 1022 c.958_splice c.e7+1 p.K319_splice PPP2R1B_ENST00000427203.2_Splice_Site_p.K158_splice|PPP2R1B_ENST00000426998.2_Splice_Site_p.K255_splice|PPP2R1B_ENST00000311129.5_Splice_Site_p.K319_splice|PPP2R1B_ENST00000341980.6_Splice_Site_p.K319_splice|PPP2R1B_ENST00000393055.2_Splice_Site_p.K192_splice NM_001177562.1|NM_002716.4 NP_001171033.1|NP_002707.3 P30154 2AAB_HUMAN protein phosphatase 2, regulatory subunit A, beta 319 protein binding endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|liver(1)|lung(10)|prostate(1)|urinary_tract(2) 22 all_cancers(61;2.34e-15)|all_epithelial(67;1.72e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425) BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|Epithelial(105;2.36e-06)|all cancers(92;3.78e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0761) CTCCTTAACCTTTTACTTTGT 0.383000 3 80 0 0 0.009096 0 0 NOX5 79400 broad.mit.edu 37 15 69349008 69349008 + Missense_Mutation SNP G G T TCGA-ET-A3DV-01A-12D-A202-08 TCGA-ET-A3DV-11A-11D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5deeaa45-4c1b-4ab2-a487-93c548838f68 bba5ac91-59b6-4cae-9199-e31d43571f57 g.chr15:69349008G>T ENST00000260364.5 + 17 2517 c.2216G>T c.(2215-2217)gGc>gTc p.G739V NOX5_ENST00000455873.3_Missense_Mutation_p.G722V|NOX5_ENST00000448182.3_Missense_Mutation_p.G711V|NOX5_ENST00000388866.3_Missense_Mutation_p.G757V|NOX5_ENST00000530406.2_Missense_Mutation_p.G729V Q96PH1 NOX5_HUMAN NADPH oxidase, EF-hand calcium binding domain 5 757 angiogenesis|cytokine secretion|cytokinesis|electron transport chain|endothelial cell proliferation|induction of apoptosis|positive regulation of reactive oxygen species metabolic process|regulation of fusion of sperm to egg plasma membrane|regulation of proton transport|superoxide anion generation endoplasmic reticulum|integral to membrane calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|hydrogen ion channel activity|NADP binding|superoxide-generating NADPH oxidase activity breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(18)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 35 GAGAAGTTCGGCTTCAGATTT 0.517000 48 36 1.56793e-16 2.27602e-16 0.014410 1 0 MYCBP2 23077 broad.mit.edu 37 13 77740543 77740543 + Missense_Mutation SNP A A T TCGA-ET-A3DV-01A-12D-A202-08 TCGA-ET-A3DV-11A-11D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5deeaa45-4c1b-4ab2-a487-93c548838f68 bba5ac91-59b6-4cae-9199-e31d43571f57 g.chr13:77740543A>T ENST00000407578.2 - 41 6527 c.6261T>A c.(6259-6261)caT>caA p.H2087Q MYCBP2_ENST00000357337.6_Missense_Mutation_p.H2049Q|MYCBP2_ENST00000360084.5_5'UTR|MYCBP2_ENST00000544440.2_Missense_Mutation_p.H2049Q NM_015057.4 NP_055872.4 O75592 MYCB2_HUMAN MYC binding protein 2, E3 ubiquitin protein ligase 2049 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ligase activity|protein binding|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 118 Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22) GBM - Glioblastoma multiforme(99;0.109) TAAGATTTTCATGAACAGATG 0.383000 5 72 0 0 0.000602 0 0 ZZZ3 26009 broad.mit.edu 37 1 78097775 78097775 + Missense_Mutation SNP T T A TCGA-ET-A3DV-01A-12D-A202-08 TCGA-ET-A3DV-11A-11D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5deeaa45-4c1b-4ab2-a487-93c548838f68 bba5ac91-59b6-4cae-9199-e31d43571f57 g.chr1:78097775T>A ENST00000370801.3 - 5 1740 c.1265A>T c.(1264-1266)aAt>aTt p.N422I ZZZ3_ENST00000476275.1_5'UTR|ZZZ3_ENST00000370798.1_Intron NM_015534.4 NP_056349.1 Q8IYH5 ZZZ3_HUMAN zinc finger, ZZ-type containing 3 422 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(1)|stomach(1)|urinary_tract(2) 39 TTGACTTACATTATCACTAAC 0.343000 4 86 0 0 0.000602 0 0 ZNF814 730051 broad.mit.edu 37 19 58385546 58385546 + Missense_Mutation SNP G G T TCGA-ET-A3DV-01A-12D-A202-08 TCGA-ET-A3DV-11A-11D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5deeaa45-4c1b-4ab2-a487-93c548838f68 bba5ac91-59b6-4cae-9199-e31d43571f57 g.chr19:58385546G>T ENST00000435989.2 - 3 1446 c.1212C>A c.(1210-1212)gaC>gaA p.D404E ZNF814_ENST00000596604.1_Intron|ZNF814_ENST00000595295.1_Intron|ZNF814_ENST00000597342.1_Intron|ZNF814_ENST00000597832.1_Intron|ZNF814_ENST00000600634.1_Intron NM_001144989.1 NP_001138461.1 B7Z6K7 ZN814_HUMAN zinc finger protein 814 404 regulation of transcription, DNA-dependent intracellular nucleic acid binding|zinc ion binding p.D404E(10) NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3) 25 AATGTTTTTTGTCAGTGTGAA 0.393000 5 13 1.23904e-05 1.6896e-05 0.000602 1 0 KRTAP5-5 439915 broad.mit.edu 37 11 1651181 1651181 + Silent SNP C C A TCGA-ET-A3DV-01A-12D-A202-08 TCGA-ET-A3DV-11A-11D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5deeaa45-4c1b-4ab2-a487-93c548838f68 bba5ac91-59b6-4cae-9199-e31d43571f57 g.chr11:1651181C>A ENST00000399676.2 + 1 149 c.111C>A c.(109-111)ggC>ggA p.G37G NM_001001480.2 NP_001001480.2 Q701N2 KRA55_HUMAN keratin associated protein 5-5 37 keratin filament endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|urinary_tract(1) 33 all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082) gctgtgggggctgtggctccg 0.721000 5 75 5.18039e-06 7.28493e-06 0.003080 1 0 MT-ND1 4535 broad.mit.edu 37 MT 3899 3899 + Missense_Mutation SNP T T C TCGA-ET-A3DV-01A-12D-A202-08 TCGA-ET-A3DV-11A-11D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5deeaa45-4c1b-4ab2-a487-93c548838f68 bba5ac91-59b6-4cae-9199-e31d43571f57 g.chrM:3899T>C ENST00000361390.2 + 1 593 c.593T>C c.(592-594)tTc>tCc p.198_198insS mitochondrially encoded NADH dehydrogenase 1 breast(1)|endometrium(13)|kidney(17)|lung(2)|prostate(1) 34 CCGAACCCCCTTCGACCTTGC 0.498000 3 0 0 0 0.009096 0 0 IRX6 79190 broad.mit.edu 37 16 55363139 55363139 + Silent SNP C C T TCGA-ET-A3DV-01A-12D-A202-08 TCGA-ET-A3DV-11A-11D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5deeaa45-4c1b-4ab2-a487-93c548838f68 bba5ac91-59b6-4cae-9199-e31d43571f57 g.chr16:55363139C>T ENST00000290552.7 + 5 2581 c.1249C>T c.(1249-1251)Ctg>Ttg p.L417L RP11-26L20.3_ENST00000558730.2_RNA NM_024335.2 NP_077311.2 P78412 IRX6_HUMAN iroquois homeobox 6 417 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(2)|central_nervous_system(5)|endometrium(3)|kidney(2)|large_intestine(6)|liver(2)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 33 CAAGTTTGCCCTGCAGGGACT 0.642000 8 140 0 0 0.008291 0 0 ZNF341 84905 broad.mit.edu 37 20 32341114 32341114 + Missense_Mutation SNP G G A TCGA-ET-A3DV-01A-12D-A202-08 TCGA-ET-A3DV-11A-11D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5deeaa45-4c1b-4ab2-a487-93c548838f68 bba5ac91-59b6-4cae-9199-e31d43571f57 g.chr20:32341114G>A ENST00000375200.1 + 5 991 c.626G>A c.(625-627)cGt>cAt p.R209H ZNF341_ENST00000342427.2_Missense_Mutation_p.R209H Q9BYN7 ZN341_HUMAN zinc finger protein 341 209 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(3)|lung(8)|ovary(2)|prostate(3)|skin(1)|urinary_tract(3) 31 CCCCCTGGGCGTCCCAACCCT 0.697000 13 10 0 0 0.013537 0 0 GABRQ 55879 broad.mit.edu 37 X 151818902 151818902 + Missense_Mutation SNP C C T TCGA-ET-A3DV-01A-12D-A202-08 TCGA-ET-A3DV-11A-11D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5deeaa45-4c1b-4ab2-a487-93c548838f68 bba5ac91-59b6-4cae-9199-e31d43571f57 g.chrX:151818902C>T ENST00000370306.2 + 7 780 c.760C>T c.(760-762)Cgc>Tgc p.R254C NM_018558.2 NP_061028.2 Q9UN88 GBRT_HUMAN gamma-aminobutyric acid (GABA) A receptor, theta 254 cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|neurotransmitter transporter activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(9)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 52 Acute lymphoblastic leukemia(192;6.56e-05) TTCCTACATACGCCTGATACT 0.522000 12 487 0 0 0.010729 0 0 RP11-417J8.6 0 broad.mit.edu 37 1 142713956 142713956 + RNA SNP G G A rs12161184 by1000genomes TCGA-ET-A3DV-01A-12D-A202-08 TCGA-ET-A3DV-11A-11D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5deeaa45-4c1b-4ab2-a487-93c548838f68 bba5ac91-59b6-4cae-9199-e31d43571f57 g.chr1:142713956G>A ENST00000369381.2 - 0 649 AAGTTAAAGAGTAACCTGCAC 0.308000 3 29 0 0 0.000602 0 0 LDB3 11155 broad.mit.edu 37 10 88441198 88441198 + Silent SNP C C T TCGA-ET-A3DV-01A-12D-A202-08 TCGA-ET-A3DV-11A-11D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5deeaa45-4c1b-4ab2-a487-93c548838f68 bba5ac91-59b6-4cae-9199-e31d43571f57 g.chr10:88441198C>T ENST00000429277.2 + 5 472 c.327C>T c.(325-327)ccC>ccT p.P109P LDB3_ENST00000310944.6_Silent_p.P109P|LDB3_ENST00000542786.1_Silent_p.P109P|LDB3_ENST00000372056.4_Silent_p.P109P|LDB3_ENST00000352360.5_Intron|LDB3_ENST00000361373.4_Silent_p.P109P|LDB3_ENST00000458213.2_Intron|LDB3_ENST00000372066.3_Intron|LDB3_ENST00000263066.6_Intron NM_001171610.1 NP_001165081.1 O75112 LDB3_HUMAN LIM domain binding 3 109 cytoskeleton|perinuclear region of cytoplasm|pseudopodium zinc ion binding breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|soft_tissue(1) 25 GCCAGGACCCCGCTCTGGACA 0.677000 4 183 0 0 0.001168 0 0 ZBTB32 27033 broad.mit.edu 37 19 36206734 36206734 + Splice_Site SNP T T C TCGA-ET-A3DV-01A-12D-A202-08 TCGA-ET-A3DV-11A-11D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5deeaa45-4c1b-4ab2-a487-93c548838f68 bba5ac91-59b6-4cae-9199-e31d43571f57 g.chr19:36206734T>C ENST00000392197.2 + 4 1273 c.e4+2 ZBTB32_ENST00000262630.3_Splice_Site Q9Y2Y4 ZBT32_HUMAN zinc finger and BTB domain containing 32 DNA repair|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter nucleoplasm DNA binding|protein binding|transcription corepressor activity|zinc ion binding large_intestine(5)|lung(1)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2) 14 all_lung(56;2.22e-07)|Lung NSC(56;3.47e-07)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0515) CTACCCCAGGTAAGCCCCTCG 0.617000 3 84 0 0 0.004672 0 0 HIF3A 64344 broad.mit.edu 37 19 46815428 46815428 + Missense_Mutation SNP G G T TCGA-ET-A3DV-01A-12D-A202-08 TCGA-ET-A3DV-11A-11D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5deeaa45-4c1b-4ab2-a487-93c548838f68 bba5ac91-59b6-4cae-9199-e31d43571f57 g.chr19:46815428G>T ENST00000339613.2 + 7 868 c.613G>T c.(613-615)Gtg>Ttg p.V205L HIF3A_ENST00000300862.3_Missense_Mutation_p.V259L|HIF3A_ENST00000472815.1_Missense_Mutation_p.V192L|HIF3A_ENST00000420102.2_Missense_Mutation_p.V210L|HIF3A_ENST00000525854.1_3'UTR|HIF3A_ENST00000377670.4_Missense_Mutation_p.V261L|HIF3A_ENST00000600383.1_Missense_Mutation_p.V192L|HIF3A_ENST00000244303.6_Missense_Mutation_p.V192L Q9Y2N7 HIF3A_HUMAN hypoxia inducible factor 3, alpha subunit 261 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|signal transducer activity breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(14)|prostate(1)|skin(6)|upper_aerodigestive_tract(1) 33 Ovarian(192;0.00965)|all_neural(266;0.0887) OV - Ovarian serous cystadenocarcinoma(262;0.00204)|all cancers(93;0.0107)|GBM - Glioblastoma multiforme(486;0.0489)|Epithelial(262;0.136) GATTGCAGAAGTGGCTGGCTA 0.592000 9 241 0.00448238 0.00593256 0.004482 1 0 ZNF462 58499 broad.mit.edu 37 9 109687520 109687520 + Missense_Mutation SNP T T C TCGA-ET-A3DV-01A-12D-A202-08 TCGA-ET-A3DV-11A-11D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5deeaa45-4c1b-4ab2-a487-93c548838f68 bba5ac91-59b6-4cae-9199-e31d43571f57 g.chr9:109687520T>C ENST00000277225.5 + 3 1616 c.1327T>C c.(1327-1329)Ttt>Ctt p.F443L ZNF462_ENST00000457913.1_Missense_Mutation_p.F443L Q96JM2 ZN462_HUMAN zinc finger protein 462 443 transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 119 CCAGTGCCCCTTTTGTCCTTT 0.463000 3 126 0 0 0.004672 0 0 FAM35A 54537 broad.mit.edu 37 10 88911225 88911225 + Missense_Mutation SNP A A T TCGA-ET-A3DV-01A-12D-A202-08 TCGA-ET-A3DV-11A-11D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5deeaa45-4c1b-4ab2-a487-93c548838f68 bba5ac91-59b6-4cae-9199-e31d43571f57 g.chr10:88911225A>T ENST00000298786.4 + 3 228 c.114A>T c.(112-114)aaA>aaT p.K38N FAM35A_ENST00000298784.1_Missense_Mutation_p.K38N Q86V20 FA35A_HUMAN family with sequence similarity 35, member A 38 endometrium(2)|kidney(2)|large_intestine(5)|lung(1)|ovary(2)|prostate(2)|skin(2) 16 CCTGGAAAAAAATTCAGCTTT 0.373000 21 16 0 0 0.010504 0 0 MT-CO2 4513 broad.mit.edu 37 MT 7788 7788 + Missense_Mutation SNP T T C TCGA-ET-A3DV-01A-12D-A202-08 TCGA-ET-A3DV-11A-11D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5deeaa45-4c1b-4ab2-a487-93c548838f68 bba5ac91-59b6-4cae-9199-e31d43571f57 g.chrM:7788T>C ENST00000361739.1 + 1 203 c.203T>C c.(202-204)cTg>cCg p.L68P mitochondrially encoded cytochrome c oxidase II endometrium(5)|kidney(8)|lung(2)|pancreas(3)|prostate(1) 19 CTGAACTATCCTGCCCGCCAT 0.468000 2 2 0 0 0.004672 0 0 TPTE2P6 0 broad.mit.edu 37 13 25169937 25169937 + RNA SNP A A C TCGA-ET-A3DV-01A-12D-A202-08 TCGA-ET-A3DV-11A-11D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5deeaa45-4c1b-4ab2-a487-93c548838f68 bba5ac91-59b6-4cae-9199-e31d43571f57 g.chr13:25169937A>C ENST00000453498.1 + 0 1184 AATCTTCCTAAATACTATGAC 0.264000 2 8 0 0 0.004672 0 0 CR2 1380 broad.mit.edu 37 1 207643143 207643143 + Silent SNP G G A TCGA-ET-A3DV-01A-12D-A202-08 TCGA-ET-A3DV-11A-11D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5deeaa45-4c1b-4ab2-a487-93c548838f68 bba5ac91-59b6-4cae-9199-e31d43571f57 g.chr1:207643143G>A ENST00000367057.3 + 6 1110 c.921G>A c.(919-921)ccG>ccA p.P307P CR2_ENST00000458541.2_Silent_p.P307P|CR2_ENST00000367059.3_Silent_p.P307P|CR2_ENST00000367058.3_Silent_p.P307P|CR2_ENST00000485707.1_3'UTR NM_001006658.2 NP_001006659.1 P20023 CR2_HUMAN complement component (3d/Epstein Barr virus) receptor 2 307 Sushi 5. complement activation, classical pathway|innate immune response integral to membrane|plasma membrane complement receptor activity|protein homodimerization activity NS(2)|breast(3)|endometrium(4)|kidney(3)|large_intestine(12)|lung(26)|ovary(1)|pancreas(1)|prostate(1)|skin(12)|upper_aerodigestive_tract(3)|urinary_tract(1) 69 CTTGTGACCCGGACCCAGAGG 0.488000 4 98 0 0 0.009096 0 0 TRBV29-1 0 broad.mit.edu 37 7 142448200 142448207 + RNA DEL GGTGGAAA GGTGGAAA - rs149832120 by1000genomes TCGA-ET-A3DV-01A-12D-A202-08 TCGA-ET-A3DV-11A-11D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5deeaa45-4c1b-4ab2-a487-93c548838f68 bba5ac91-59b6-4cae-9199-e31d43571f57 g.chr7:142448200_142448207delGGTGGAAA ENST00000422143.2 + 0 101 GTTAACACTGGGTGGAAAGGTGGAAAGA 0.457 7 4 --- --- --- --- SLA 6503 broad.mit.edu 37 8 134072405 134072408 + Frame_Shift_Del DEL TTTC TTTC - TCGA-ET-A3DV-01A-12D-A202-08 TCGA-ET-A3DV-11A-11D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5deeaa45-4c1b-4ab2-a487-93c548838f68 bba5ac91-59b6-4cae-9199-e31d43571f57 g.chr8:134072405_134072408delTTTC ENST00000395352.3 - 2 397_400 c.49_52delGAAA c.(49-54)tgfs p.EM17fs SLA_ENST00000518565.1_5'UTR|SLA_ENST00000338087.5_Start_Codon_Del|SLA_ENST00000517648.1_Frame_Shift_Del_p.EM17fs|SLA_ENST00000427060.2_Frame_Shift_Del_p.EM40fs|TG_ENST00000542445.1_Intron|TG_ENST00000220616.4_Intron|SLA_ENST00000524345.1_Intron|TG_ENST00000377869.1_Intron|TG_ENST00000519543.1_Intron NM_001045557.2 NP_001039022.2 Q13239 SLAP1_HUMAN Src-like-adaptor 0 endosome SH3/SH2 adaptor activity central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(1)|lung(6)|prostate(1)|skin(1) 17 all_epithelial(106;3.51e-21)|Lung NSC(106;4.24e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155) Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0279)|Breast(495;0.037) BRCA - Breast invasive adenocarcinoma(115;0.000701) CTGTTTCCCATTTCTTTCTTTTTC 0.578 55 83 --- --- --- --- FAM98C 147965 broad.mit.edu 37 19 38899502 38899504 + In_Frame_Del DEL AAG AAG - TCGA-ET-A3DV-01A-12D-A202-08 TCGA-ET-A3DV-11A-11D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5deeaa45-4c1b-4ab2-a487-93c548838f68 bba5ac91-59b6-4cae-9199-e31d43571f57 g.chr19:38899502_38899504delAAG ENST00000252530.5 + 8 1049_1051 c.1030_1032delAAG c.(1030-1032)del p.K349del FAM98C_ENST00000343358.7_In_Frame_Del_p.K267del|FAM98C_ENST00000588262.1_3'UTR NM_174905.3 NP_777565.3 Q17RN3 FA98C_HUMAN family with sequence similarity 98, member C 349 endometrium(2)|large_intestine(3)|lung(6)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1) 15 all_cancers(60;3.95e-06) Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272) TTGGGGTCGCAAGAAGAAGAAGA 0.606 11 127 --- --- --- --- AC008103.5 0 broad.mit.edu 37 22 18842473 18842473 + RNA DEL G G - rs66618606 TCGA-ET-A3DV-01A-12D-A202-08 TCGA-ET-A3DV-11A-11D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5deeaa45-4c1b-4ab2-a487-93c548838f68 bba5ac91-59b6-4cae-9199-e31d43571f57 g.chr22:18842473delG ENST00000412938.1 + 0 2208 AGCTGCTGGTGGGGAGGTCTT 0.647 6 13 --- --- --- ---