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 MEGF6 1953 broad.mit.edu 37 1 3422030 3422030 + Missense_Mutation SNP C C T TCGA-J4-A83M-01A-11D-A34U-08 TCGA-J4-A83M-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9da3aab7-ebaa-437d-baab-a11571b586d6 a57c0f87-eec2-4a38-998d-294959df3d34 g.chr1:3422030C>T ENST00000356575.4 - 16 2235 c.2009G>A c.(2008-2010)aGc>aAc p.S670N MEGF6_ENST00000294599.4_Missense_Mutation_p.S565N NM_001409.3 NP_001400.3 O75095 MEGF6_HUMAN multiple EGF-like-domains 6 670 extracellular region calcium ion binding cervix(2)|endometrium(3)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 19 all_cancers(77;0.00681)|all_epithelial(69;0.00301)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.105) all_epithelial(116;7.41e-22)|all_lung(118;8.3e-09)|Lung NSC(185;3.55e-06)|Breast(487;0.000659)|Renal(390;0.00121)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Lung SC(97;0.0262)|Ovarian(437;0.0308)|Medulloblastoma(700;0.211) Epithelial(90;3.78e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.86e-22)|GBM - Glioblastoma multiforme(42;1.96e-12)|Colorectal(212;6.15e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.000448)|BRCA - Breast invasive adenocarcinoma(365;0.000779)|KIRC - Kidney renal clear cell carcinoma(229;0.00645)|STAD - Stomach adenocarcinoma(132;0.00669)|Lung(427;0.213) GCAGGAGCAGCTGCCATCCCT 0.706 3 17 --- --- --- --- UBR4 23352 broad.mit.edu 37 1 19480294 19480294 + Nonsense_Mutation SNP G G A TCGA-J4-A83M-01A-11D-A34U-08 TCGA-J4-A83M-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9da3aab7-ebaa-437d-baab-a11571b586d6 a57c0f87-eec2-4a38-998d-294959df3d34 g.chr1:19480294G>A ENST00000375267.2 - 45 6601 c.6598C>T c.(6598-6600)Cag>Tag p.Q2200* UBR4_ENST00000375226.2_Nonsense_Mutation_p.Q2200*|UBR4_ENST00000375254.3_Nonsense_Mutation_p.Q2200*|UBR4_ENST00000375217.2_Nonsense_Mutation_p.Q2200* Q5T4S7 UBR4_HUMAN ubiquitin protein ligase E3 component n-recognin 4 2200 interspecies interaction between organisms cytoplasm|cytoskeleton|integral to membrane|nucleus calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6) 171 Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256) UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816) TTAATCTCCTGGATAAGAAAA 0.458 27 66 --- --- --- --- DOCK7 85440 broad.mit.edu 37 1 63048923 63048923 + Silent SNP T T C TCGA-J4-A83M-01A-11D-A34U-08 TCGA-J4-A83M-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9da3aab7-ebaa-437d-baab-a11571b586d6 a57c0f87-eec2-4a38-998d-294959df3d34 g.chr1:63048923T>C ENST00000251157.5 - 16 1836 c.1803A>G c.(1801-1803)gtA>gtG p.V601V DOCK7_ENST00000340370.5_Silent_p.V601V NM_001271999.1 NP_001258928.1 Q96N67 DOCK7_HUMAN dedicator of cytokinesis 7 601 DHR-1. activation of Rac GTPase activity|axonogenesis|establishment of neuroblast polarity|microtubule cytoskeleton organization|positive regulation of peptidyl-serine phosphorylation axon|basal part of cell|growth cone GTP binding|guanyl-nucleotide exchange factor activity|Rac GTPase binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(19)|lung(42)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 92 TACCAAAGATTACCTGAAACA 0.299 4 124 --- --- --- --- IFI16 3428 broad.mit.edu 37 1 159002391 159002391 + Nonsense_Mutation SNP T T A TCGA-J4-A83M-01A-11D-A34U-08 TCGA-J4-A83M-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9da3aab7-ebaa-437d-baab-a11571b586d6 a57c0f87-eec2-4a38-998d-294959df3d34 g.chr1:159002391T>A ENST00000295809.7 + 7 1494 c.1239T>A c.(1237-1239)taT>taA p.Y413* IFI16_ENST00000368132.3_Nonsense_Mutation_p.Y413*|IFI16_ENST00000359709.3_Nonsense_Mutation_p.Y357*|IFI16_ENST00000368131.4_Nonsense_Mutation_p.Y413*|IFI16_ENST00000448393.2_Nonsense_Mutation_p.Y413*|IFI16_ENST00000340979.6_Nonsense_Mutation_p.Y413*|IFI16_ENST00000430894.2_Nonsense_Mutation_p.Y361* Q16666 IF16_HUMAN interferon, gamma-inducible protein 16 413 Y -> N (in dbSNP:rs1057028). cell proliferation|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|monocyte differentiation|negative regulation of transcription, DNA-dependent|response to virus|transcription, DNA-dependent cytoplasm|nuclear speck|nucleolus double-stranded DNA binding|protein binding cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 all_hematologic(112;0.0429) AGCTTCCATATCCTTCAGAGG 0.458 8 35 --- --- --- --- FUNDC2P2 388965 broad.mit.edu 37 2 84518075 84518075 + RNA SNP G G A TCGA-J4-A83M-01A-11D-A34U-08 TCGA-J4-A83M-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9da3aab7-ebaa-437d-baab-a11571b586d6 a57c0f87-eec2-4a38-998d-294959df3d34 g.chr2:84518075G>A ENST00000331369.5 + 0 269 AAAGTATAGCGTGGCAACCCA 0.507 23 58 --- --- --- --- TTN 7273 broad.mit.edu 37 2 179635207 179635207 + Missense_Mutation SNP A A G TCGA-J4-A83M-01A-11D-A34U-08 TCGA-J4-A83M-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9da3aab7-ebaa-437d-baab-a11571b586d6 a57c0f87-eec2-4a38-998d-294959df3d34 g.chr2:179635207A>G ENST00000589042.1 - 35 8536 c.8312T>C c.(8311-8313)aTc>aCc p.I2771T TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000360870.5_Missense_Mutation_p.I2771T|TTN-AS1_ENST00000610005.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.I2725T|TTN_ENST00000460472.2_Missense_Mutation_p.I2725T|TTN_ENST00000342992.6_Missense_Mutation_p.I2771T|TTN_ENST00000342175.6_Missense_Mutation_p.I2725T|TTN_ENST00000591111.1_Missense_Mutation_p.I2771T NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 2509 I -> M (in a breast infiltrating ductal carcinoma sample; somatic mutation). 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) CTCATCCACGATGGCACAGTT 0.433 4 96 --- --- --- --- CAPN7 23473 broad.mit.edu 37 3 15292459 15292459 + Missense_Mutation SNP G G T TCGA-J4-A83M-01A-11D-A34U-08 TCGA-J4-A83M-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9da3aab7-ebaa-437d-baab-a11571b586d6 a57c0f87-eec2-4a38-998d-294959df3d34 g.chr3:15292459G>T ENST00000253693.2 + 20 2479 c.2226G>T c.(2224-2226)gaG>gaT p.E742D NM_014296.2 NP_055111.1 Q9Y6W3 CAN7_HUMAN calpain 7 742 Domain N. proteolysis nucleus calcium-dependent cysteine-type endopeptidase activity breast(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(5)|ovary(1)|skin(2) 22 TTGGATTTGAGGTTGTAACAG 0.333 3 78 --- --- --- --- ABHD6 57406 broad.mit.edu 37 3 58279458 58279458 + Missense_Mutation SNP T T G TCGA-J4-A83M-01A-11D-A34U-08 TCGA-J4-A83M-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9da3aab7-ebaa-437d-baab-a11571b586d6 a57c0f87-eec2-4a38-998d-294959df3d34 g.chr3:58279458T>G ENST00000478253.1 + 10 1481 c.980T>G c.(979-981)gTg>gGg p.V327G ABHD6_ENST00000295962.4_Missense_Mutation_p.V327G Q9BV23 ABHD6_HUMAN abhydrolase domain containing 6 327 integral to membrane acylglycerol lipase activity NS(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(1) 16 BRCA - Breast invasive adenocarcinoma(55;0.000225)|KIRC - Kidney renal clear cell carcinoma(284;0.0471)|Kidney(284;0.0589)|OV - Ovarian serous cystadenocarcinoma(275;0.209) TTAGCTTCTGTGCACAACACA 0.537 10 36 --- --- --- --- ADAMTS12 81792 broad.mit.edu 37 5 33658389 33658389 + Missense_Mutation SNP A A T TCGA-J4-A83M-01A-11D-A34U-08 TCGA-J4-A83M-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9da3aab7-ebaa-437d-baab-a11571b586d6 a57c0f87-eec2-4a38-998d-294959df3d34 g.chr5:33658389A>T ENST00000504830.1 - 7 1425 c.1090T>A c.(1090-1092)Tct>Act p.S364T ADAMTS12_ENST00000352040.3_Missense_Mutation_p.S364T|ADAMTS12_ENST00000504582.1_5'UTR NM_030955.2 NP_112217.2 P58397 ATS12_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 12 364 Peptidase M12B. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5) 216 GAAAGGTGAGACAGGCCCAGG 0.507 HNSCC(64;0.19) 30 50 --- --- --- --- CCDC146 57639 broad.mit.edu 37 7 76885704 76885704 + Nonsense_Mutation SNP G G T TCGA-J4-A83M-01A-11D-A34U-08 TCGA-J4-A83M-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9da3aab7-ebaa-437d-baab-a11571b586d6 a57c0f87-eec2-4a38-998d-294959df3d34 g.chr7:76885704G>T ENST00000285871.4 + 6 689 c.562G>T c.(562-564)Gaa>Taa p.E188* CCDC146_ENST00000431197.1_5'UTR|AC073635.5_ENST00000476561.2_RNA NM_020879.2 NP_065930.2 Q8IYE0 CC146_HUMAN coiled-coil domain containing 146 188 breast(3)|central_nervous_system(3)|endometrium(1)|kidney(4)|large_intestine(7)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(2) 34 all_cancers(73;0.128)|all_lung(88;0.0986)|all_epithelial(88;0.163)|Myeloproliferative disorder(862;0.205) ATTACGTAAAGAAATAATGCA 0.294 6 26 --- --- --- --- PON3 5446 broad.mit.edu 37 7 94996690 94996690 + Missense_Mutation SNP G G T TCGA-J4-A83M-01A-11D-A34U-08 TCGA-J4-A83M-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9da3aab7-ebaa-437d-baab-a11571b586d6 a57c0f87-eec2-4a38-998d-294959df3d34 g.chr7:94996690G>T ENST00000265627.5 - 5 488 c.478C>A c.(478-480)Cat>Aat p.H160N PON3_ENST00000451904.1_Missense_Mutation_p.H160N|PON3_ENST00000427422.1_Missense_Mutation_p.H160N|PON1_ENST00000542556.1_Intron NM_000940.2 NP_000931.1 paraoxonase 3 breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|skin(2) 24 all_cancers(62;1.04e-10)|all_epithelial(64;3.67e-09)|Lung NSC(181;0.239) STAD - Stomach adenocarcinoma(171;0.0151) AGAAGTTCATGTTTTATAGTT 0.368 5 94 --- --- --- --- TP53INP1 94241 broad.mit.edu 37 8 95952206 95952206 + Missense_Mutation SNP T T C TCGA-J4-A83M-01A-11D-A34U-08 TCGA-J4-A83M-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9da3aab7-ebaa-437d-baab-a11571b586d6 a57c0f87-eec2-4a38-998d-294959df3d34 g.chr8:95952206T>C ENST00000342697.4 - 3 762 c.355A>G c.(355-357)Atg>Gtg p.M119V TP53INP1_ENST00000378776.4_Missense_Mutation_p.M119V|NDUFAF6_ENST00000396113.1_Intron|TP53INP1_ENST00000448464.2_Missense_Mutation_p.M119V NM_033285.3 NP_150601.1 Q96A56 T53I1_HUMAN tumor protein p53 inducible nuclear protein 1 119 apoptosis PML body kidney(2)|large_intestine(3)|lung(2)|prostate(1)|skin(1) 9 Breast(36;8.75e-07) AGGTTTTCCATAGGACTTGTT 0.488 10 45 --- --- --- --- ZEB1 6935 broad.mit.edu 37 10 31815612 31815612 + Missense_Mutation SNP A A G TCGA-J4-A83M-01A-11D-A34U-08 TCGA-J4-A83M-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9da3aab7-ebaa-437d-baab-a11571b586d6 a57c0f87-eec2-4a38-998d-294959df3d34 g.chr10:31815612A>G ENST00000446923.2 + 9 3138 c.2747A>G c.(2746-2748)cAt>cGt p.H916R ZEB1_ENST00000560721.2_Missense_Mutation_p.H912R|ZEB1_ENST00000361642.5_Missense_Mutation_p.H933R|ZEB1_ENST00000320985.10_Missense_Mutation_p.H932R|ZEB1_ENST00000542815.3_Missense_Mutation_p.H865R NM_001128128.2|NM_001174094.1 NP_001121600.1|NP_001167565.1 P37275 ZEB1_HUMAN zinc finger E-box binding homeobox 1 932 cell proliferation|immune response|negative regulation of transcription from RNA polymerase II promoter|positive regulation of neuron differentiation cytoplasm E-box binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding NS(2)|breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(38)|ovary(3)|skin(6)|upper_aerodigestive_tract(4) 77 Prostate(175;0.0156) AAAAGACCTCATGAGTGTGGA 0.333 9 27 --- --- --- --- TSG101 7251 broad.mit.edu 37 11 18541081 18541081 + Missense_Mutation SNP C C T TCGA-J4-A83M-01A-11D-A34U-08 TCGA-J4-A83M-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9da3aab7-ebaa-437d-baab-a11571b586d6 a57c0f87-eec2-4a38-998d-294959df3d34 g.chr11:18541081C>T ENST00000536719.1 - 2 246 c.112G>A c.(112-114)Gtt>Att p.V38I TSG101_ENST00000357193.3_Intron|TSG101_ENST00000251968.3_Missense_Mutation_p.V38I Q99816 TS101_HUMAN tumor susceptibility 101 38 UEV. cell division|cellular membrane organization|endosome transport|interspecies interaction between organisms|non-lytic virus budding|protein transport|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway early endosome|late endosome membrane|multivesicular body|nucleolus|plasma membrane calcium-dependent protein binding|DNA binding|transcription corepressor activity|ubiquitin binding|ubiquitin protein ligase binding kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 22 GAATCCAAAACAGGTTTGAGA 0.299 53 110 --- --- --- --- MUC15 143662 broad.mit.edu 37 11 26586956 26586956 + Silent SNP A A G TCGA-J4-A83M-01A-11D-A34U-08 TCGA-J4-A83M-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9da3aab7-ebaa-437d-baab-a11571b586d6 a57c0f87-eec2-4a38-998d-294959df3d34 g.chr11:26586956A>G ENST00000436318.2 - 2 664 c.531T>C c.(529-531)acT>acC p.T177T MUC15_ENST00000281268.8_Silent_p.T177T|ANO3_ENST00000256737.3_Intron|MUC15_ENST00000455601.2_Silent_p.T150T|MUC15_ENST00000527569.1_Silent_p.T177T|ANO3_ENST00000525139.1_Intron|ANO3_ENST00000531568.1_Intron|MUC15_ENST00000529533.1_Silent_p.T177T|ANO3_ENST00000537978.1_Intron Q8N387 MUC15_HUMAN mucin 15, cell surface associated 150 extracellular region|integral to membrane|plasma membrane breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1) 25 CCAAAGACCAAGTGAAGTTTT 0.443 24 87 --- --- --- --- PAMR1 25891 broad.mit.edu 37 11 35515649 35515649 + Missense_Mutation SNP T T A TCGA-J4-A83M-01A-11D-A34U-08 TCGA-J4-A83M-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9da3aab7-ebaa-437d-baab-a11571b586d6 a57c0f87-eec2-4a38-998d-294959df3d34 g.chr11:35515649T>A ENST00000378880.2 - 2 690 c.245A>T c.(244-246)cAc>cTc p.H82L PAMR1_ENST00000278360.3_Missense_Mutation_p.H82L|PAMR1_ENST00000378878.3_Missense_Mutation_p.H82L|PAMR1_ENST00000534803.1_5'UTR|PAMR1_ENST00000532848.1_Missense_Mutation_p.H42L NM_001001991.1 NP_001001991.1 Q6UXH9 PAMR1_HUMAN peptidase domain containing associated with muscle regeneration 1 82 Cys-rich. proteolysis extracellular region serine-type endopeptidase activity breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(3)|upper_aerodigestive_tract(1) 26 CTCACCTGGGTGGATCAGGCA 0.527 8 69 --- --- --- --- AHNAK 79026 broad.mit.edu 37 11 62296740 62296740 + Missense_Mutation SNP T T A TCGA-J4-A83M-01A-11D-A34U-08 TCGA-J4-A83M-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9da3aab7-ebaa-437d-baab-a11571b586d6 a57c0f87-eec2-4a38-998d-294959df3d34 g.chr11:62296740T>A ENST00000378024.4 - 5 5423 c.5149A>T c.(5149-5151)Atg>Ttg p.M1717L AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron NM_001620.1 NP_001611.1 Q09666 AHNK_HUMAN AHNAK nucleoprotein 1717 nervous system development nucleus protein binding NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6) 268 Melanoma(852;0.155) AACTTGGGCATTTTCATCTTG 0.507 8 299 --- --- --- --- C11orf30 56946 broad.mit.edu 37 11 76257110 76257110 + Silent SNP T T C TCGA-J4-A83M-01A-11D-A34U-08 TCGA-J4-A83M-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9da3aab7-ebaa-437d-baab-a11571b586d6 a57c0f87-eec2-4a38-998d-294959df3d34 g.chr11:76257110T>C ENST00000529032.1 + 19 3543 c.3543T>C c.(3541-3543)acT>acC p.T1181T C11orf30_ENST00000524767.1_Silent_p.T1196T|C11orf30_ENST00000524490.1_Silent_p.T1083T|C11orf30_ENST00000343878.3_Intron|C11orf30_ENST00000525038.1_Silent_p.T1182T|C11orf30_ENST00000334736.3_Silent_p.T1181T|C11orf30_ENST00000533248.1_Silent_p.T1090T|C11orf30_ENST00000525919.1_Silent_p.T1182T Q7Z589 EMSY_HUMAN chromosome 11 open reading frame 30 1181 chromatin modification|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(10)|liver(1)|lung(23)|ovary(5)|prostate(2)|skin(4)|stomach(1)|urinary_tract(2) 60 GCATGCTCACTGGTGAAGCAG 0.468 29 30 --- --- --- --- DSCAML1 57453 broad.mit.edu 37 11 117301609 117301609 + Missense_Mutation SNP T T C TCGA-J4-A83M-01A-11D-A34U-08 TCGA-J4-A83M-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9da3aab7-ebaa-437d-baab-a11571b586d6 a57c0f87-eec2-4a38-998d-294959df3d34 g.chr11:117301609T>C ENST00000321322.6 - 32 5696 c.5695A>G c.(5695-5697)Agt>Ggt p.S1899G DSCAML1_ENST00000527706.1_Missense_Mutation_p.S1629G NM_020693.2 NP_065744.2 Q8TD84 DSCL1_HUMAN Down syndrome cell adhesion molecule like 1 1839 axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion cell surface|integral to membrane|plasma membrane protein homodimerization activity breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 110 all_hematologic(175;0.0487) Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232) BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172) TCAGAGGAACTGTCAGAGATG 0.587 5 155 --- --- --- --- OR10G8 219869 broad.mit.edu 37 11 123900402 123900402 + Missense_Mutation SNP C C T rs147950397 byFrequency TCGA-J4-A83M-01A-11D-A34U-08 TCGA-J4-A83M-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9da3aab7-ebaa-437d-baab-a11571b586d6 a57c0f87-eec2-4a38-998d-294959df3d34 g.chr11:123900402C>T ENST00000431524.1 + 1 106 c.73C>T c.(73-75)Ctc>Ttc p.L25F NM_001004464.1 NP_001004464.1 Q8NGN5 O10G8_HUMAN olfactory receptor, family 10, subfamily G, member 8 25 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(7)|large_intestine(2)|lung(21)|ovary(1)|prostate(5)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 44 Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521) GGACGCCCCCCTCTTTGGAGT 0.582 38 108 --- --- --- --- CS 1431 broad.mit.edu 37 12 56679800 56679800 + Missense_Mutation SNP T T C TCGA-J4-A83M-01A-11D-A34U-08 TCGA-J4-A83M-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9da3aab7-ebaa-437d-baab-a11571b586d6 a57c0f87-eec2-4a38-998d-294959df3d34 g.chr12:56679800T>C ENST00000351328.3 - 3 291 c.101A>G c.(100-102)aAa>aGa p.K34R CS_ENST00000548567.1_5'UTR|RP11-977G19.10_ENST00000549318.1_Missense_Mutation_p.K230R|CS_ENST00000542324.2_Missense_Mutation_p.K21R NM_004077.2 NP_004068.2 O75390 CISY_HUMAN citrate synthase 34 cellular carbohydrate metabolic process|tricarboxylic acid cycle mitochondrial matrix citrate (Si)-synthase activity breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(4)|ovary(1)|skin(1) 17 Myeloproliferative disorder(1001;0.000374) BRCA - Breast invasive adenocarcinoma(357;6.17e-07) CAATATGTCTTTCAAATTCTA 0.403 12 81 --- --- --- --- PLXNC1 10154 broad.mit.edu 37 12 94641683 94641683 + Missense_Mutation SNP C C A TCGA-J4-A83M-01A-11D-A34U-08 TCGA-J4-A83M-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9da3aab7-ebaa-437d-baab-a11571b586d6 a57c0f87-eec2-4a38-998d-294959df3d34 g.chr12:94641683C>A ENST00000258526.4 + 13 2642 c.2393C>A c.(2392-2394)tCt>tAt p.S798Y NM_005761.2 NP_005752.1 O60486 PLXC1_HUMAN plexin C1 798 axon guidance|cell adhesion integral to membrane|intracellular|plasma membrane receptor activity|receptor binding breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(12)|lung(30)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 64 GTCCAGGTCTCTGAATATTGT 0.423 6 106 --- --- --- --- F7 2155 broad.mit.edu 37 13 113772752 113772752 + Silent SNP C C T TCGA-J4-A83M-01A-11D-A34U-08 TCGA-J4-A83M-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9da3aab7-ebaa-437d-baab-a11571b586d6 a57c0f87-eec2-4a38-998d-294959df3d34 g.chr13:113772752C>T ENST00000375581.3 + 9 866 c.831C>T c.(829-831)gaC>gaT p.D277D F7_ENST00000346342.3_Silent_p.D255D|F7_ENST00000541084.1_Silent_p.D208D NM_000131.4 NP_000122.1 P08709 FA7_HUMAN coagulation factor VII (serum prothrombin conversion accelerator) 277 Peptidase S1. D -> N (in FA7D). anti-apoptosis|blood coagulation, extrinsic pathway|peptidyl-glutamic acid carboxylation|positive regulation of leukocyte chemotaxis|positive regulation of platelet-derived growth factor receptor signaling pathway|positive regulation of positive chemotaxis|positive regulation of protein kinase B signaling cascade|post-translational protein modification|proteolysis endoplasmic reticulum lumen|Golgi lumen|plasma membrane calcium ion binding|glycoprotein binding|serine-type endopeptidase activity large_intestine(4)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 16 all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163) all_cancers(25;0.118)|all_lung(25;0.0364)|all_epithelial(44;0.0393)|Lung NSC(25;0.128)|Breast(118;0.188) all cancers(43;0.0737)|Epithelial(84;0.213)|BRCA - Breast invasive adenocarcinoma(86;0.218) Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Menadione(DB00170) GCGAGCACGACGGGGATGAGC 0.682 13 38 --- --- --- --- AKT1 207 broad.mit.edu 37 14 105239420 105239420 + Missense_Mutation SNP C C A TCGA-J4-A83M-01A-11D-A34U-08 TCGA-J4-A83M-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9da3aab7-ebaa-437d-baab-a11571b586d6 a57c0f87-eec2-4a38-998d-294959df3d34 g.chr14:105239420C>A ENST00000554581.1 - 10 2447 c.967G>T c.(967-969)Gac>Tac p.D323Y AKT1_ENST00000349310.3_Missense_Mutation_p.D323Y|AKT1_ENST00000407796.2_Missense_Mutation_p.D323Y|AKT1_ENST00000544168.1_Missense_Mutation_p.D261Y|AKT1_ENST00000554585.1_5'UTR|AKT1_ENST00000402615.2_Missense_Mutation_p.D323Y|AKT1_ENST00000554192.1_Intron|AKT1_ENST00000554848.1_Missense_Mutation_p.D323Y|AKT1_ENST00000555528.1_Missense_Mutation_p.D323Y|AKT1_ENST00000555458.1_Missense_Mutation_p.D18Y P31749 AKT1_HUMAN v-akt murine thymoma viral oncogene homolog 1 323 Protein kinase. activation of pro-apoptotic gene products|activation-induced cell death of T cells|endocrine pancreas development|G-protein coupled receptor protein signaling pathway|glucose metabolic process|glycogen biosynthetic process|induction of apoptosis by intracellular signals|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|mRNA metabolic process|negative regulation of fatty acid beta-oxidation|negative regulation of plasma membrane long-chain fatty acid transport|negative regulation of protein kinase activity|nerve growth factor receptor signaling pathway|nitric oxide biosynthetic process|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of blood vessel endothelial cell migration|positive regulation of cell growth|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of establishment of protein localization in plasma membrane|positive regulation of fat cell differentiation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of lipid biosynthetic process|positive regulation of nitric oxide biosynthetic process|positive regulation of nitric-oxide synthase activity|positive regulation of peptidyl-serine phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|protein autophosphorylation|protein import into nucleus, translocation|regulation of neuron projection development|regulation of translation|response to fluid shear stress|response to heat|response to UV-A|T cell costimulation cytosol|nucleoplasm|plasma membrane enzyme binding|identical protein binding|nitric-oxide synthase regulator activity|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|protein serine/threonine kinase activity NS(3)|breast(97)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(7)|lung(10)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|thyroid(10)|urinary_tract(15) 176 all_cancers(154;3.77e-06)|all_lung(585;3.24e-07)|all_epithelial(191;3.45e-05)|all_neural(303;0.0459)|Melanoma(154;0.155) all cancers(16;0.000486)|OV - Ovarian serous cystadenocarcinoma(23;0.00647)|Epithelial(46;0.0153)|GBM - Glioblastoma multiforme(11;0.116) all cancers(159;0.0107)|OV - Ovarian serous cystadenocarcinoma(161;0.0132)|Epithelial(152;0.243) Adenosine triphosphate(DB00171)|Arsenic trioxide(DB01169) TAGTCATTGTCCTCCAGCACC 0.632 1 Mis """breast, colorectal, ovarian, NSCLC""" 5 48 --- --- --- --- PALB2 79728 broad.mit.edu 37 16 23632759 23632759 + Missense_Mutation SNP T T C TCGA-J4-A83M-01A-11D-A34U-08 TCGA-J4-A83M-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9da3aab7-ebaa-437d-baab-a11571b586d6 a57c0f87-eec2-4a38-998d-294959df3d34 g.chr16:23632759T>C ENST00000261584.4 - 10 3189 c.3037A>G c.(3037-3039)Ata>Gta p.I1013V CTD-2196E14.3_ENST00000561764.1_RNA NM_024675.3 NP_078951.2 Q86YC2 PALB2_HUMAN partner and localizer of BRCA2 1013 Interaction with RAD51 and BRCA2. double-strand break repair via homologous recombination nucleoplasm DNA binding|protein binding breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(21)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(3) 55 GBM - Glioblastoma multiforme(48;0.0167) AAAGTTAGTATAGTCTCCTCA 0.408 """F, N, Mis""" """Wilms tumor, medulloblastoma, AML ,breast""" Involved in tolerance or repair of DNA crosslinks 5 56 --- --- --- --- ACACA 31 broad.mit.edu 37 17 35536315 35536315 + Silent SNP A A T TCGA-J4-A83M-01A-11D-A34U-08 TCGA-J4-A83M-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9da3aab7-ebaa-437d-baab-a11571b586d6 a57c0f87-eec2-4a38-998d-294959df3d34 g.chr17:35536315A>T ENST00000353139.5 - 41 5446 c.4965T>A c.(4963-4965)acT>acA p.T1655T ACACA_ENST00000360679.3_Silent_p.T1560T|ACACA_ENST00000335166.5_Silent_p.T1540T|ACACA_ENST00000394406.2_Silent_p.T1618T NM_198834.1|NM_198839.1 NP_942131.1|NP_942136.1 Q13085 ACACA_HUMAN acetyl-CoA carboxylase alpha 1618 acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process cytosol acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 83 Breast(25;0.00157)|Ovarian(249;0.15) Biotin(DB00121) GAAATGCTTGAGTGGACATAG 0.413 9 34 --- --- --- --- LAMA3 3909 broad.mit.edu 37 18 21330980 21330980 + Silent SNP T T C TCGA-J4-A83M-01A-11D-A34U-08 TCGA-J4-A83M-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9da3aab7-ebaa-437d-baab-a11571b586d6 a57c0f87-eec2-4a38-998d-294959df3d34 g.chr18:21330980T>C ENST00000313654.9 + 5 1024 c.783T>C c.(781-783)cgT>cgC p.R261R LAMA3_ENST00000399516.3_Silent_p.R261R NM_198129.1 NP_937762.1 Q16787 LAMA3_HUMAN laminin, alpha 3 261 Laminin N-terminal. cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development laminin-1 complex receptor binding|structural molecule activity NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4) 128 all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) TCCGCTTGCGTTTTCTTAGAA 0.468 4 98 --- --- --- --- DUS3L 56931 broad.mit.edu 37 19 5790154 5790154 + Silent SNP T T C TCGA-J4-A83M-01A-11D-A34U-08 TCGA-J4-A83M-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9da3aab7-ebaa-437d-baab-a11571b586d6 a57c0f87-eec2-4a38-998d-294959df3d34 g.chr19:5790154T>C ENST00000309061.7 - 2 387 c.291A>G c.(289-291)ctA>ctG p.L97L DUS3L_ENST00000320699.8_Intron|DUS3L_ENST00000590681.1_5'UTR NM_020175.2 NP_064560.2 Q96G46 DUS3L_HUMAN dihydrouridine synthase 3-like (S. cerevisiae) 97 tRNA processing flavin adenine dinucleotide binding|nucleic acid binding|tRNA dihydrouridine synthase activity|zinc ion binding endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(2) 14 TCTGAGTCTGTAGCTGCTCCC 0.627 15 37 --- --- --- --- MED15 51586 broad.mit.edu 37 22 20937036 20937036 + Splice_Site SNP T T A TCGA-J4-A83M-01A-11D-A34U-08 TCGA-J4-A83M-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9da3aab7-ebaa-437d-baab-a11571b586d6 a57c0f87-eec2-4a38-998d-294959df3d34 g.chr22:20937036T>A ENST00000263205.7 + 10 1478 c.e10+2 MED15_ENST00000541476.1_Splice_Site|MED15_ENST00000478831.1_Intron|MED15_ENST00000406969.1_Splice_Site|MED15_ENST00000542773.1_Intron|MED15_ENST00000382974.2_Splice_Site|MED15_ENST00000425759.2_Splice_Site|MED15_ENST00000292733.7_Splice_Site NM_001003891.1 NP_001003891.1 Q96RN5 MED15_HUMAN mediator complex subunit 15 regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent Golgi apparatus|mediator complex protein binding central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1) 25 all_cancers(11;2.07e-24)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142) Lung SC(17;0.0262) LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)|Epithelial(17;0.209) CAACGTCAGGTAGGCCTGGCC 0.716 4 38 --- --- --- --- CCT6P3 643180 broad.mit.edu 37 7 64498862 64498862 + RNA DEL G G - TCGA-J4-A83M-01A-11D-A34U-08 TCGA-J4-A83M-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9da3aab7-ebaa-437d-baab-a11571b586d6 a57c0f87-eec2-4a38-998d-294959df3d34 g.chr7:64498862delG ENST00000426828.1 + 0 125 NR_033416.1 CATGTGGAGAGGCAGAAGGAG 0.687 2 4 --- --- --- --- NPDC1 56654 broad.mit.edu 37 9 139935547 139935547 + Frame_Shift_Del DEL G G - TCGA-J4-A83M-01A-11D-A34U-08 TCGA-J4-A83M-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9da3aab7-ebaa-437d-baab-a11571b586d6 a57c0f87-eec2-4a38-998d-294959df3d34 g.chr9:139935547delG ENST00000371600.3 - 2 1258 c.586delC c.(586-588)ctafs p.L196fs NPDC1_ENST00000371601.4_Frame_Shift_Del_p.L118fs|NPDC1_ENST00000488145.1_5'UTR Q9NQX5 NPDC1_HUMAN neural proliferation, differentiation and control, 1 118 integral to membrane NS(1)|large_intestine(1)|lung(1)|prostate(1)|urinary_tract(1) 5 all_cancers(76;0.0926) Myeloproliferative disorder(178;0.0821) STAD - Stomach adenocarcinoma(284;0.123) OV - Ovarian serous cystadenocarcinoma(145;2.96e-05)|Epithelial(140;0.000486) TCCTTGGGTAGGGGCGGAGTT 0.672 2 4 --- --- --- ---