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 DNM1P47 0 broad.mit.edu 37 15 102296140 102296140 + RNA SNP C C T TCGA-DJ-A2PU-01A-12D-A19J-08 TCGA-DJ-A2PU-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9251e90-066c-450b-8602-229b9417cb03 5cb6c4e0-c69f-4257-8b0c-9f4e56e0d955 g.chr15:102296140C>T ENST00000561463.1 + 0 4186 GTCCAACCTGCACTCGCGTGG 0.602000 4 3 0 0 1 0 0 PLAC1 10761 broad.mit.edu 37 X 133700185 133700185 + Silent SNP G G T TCGA-DJ-A2PU-01A-12D-A19J-08 TCGA-DJ-A2PU-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9251e90-066c-450b-8602-229b9417cb03 5cb6c4e0-c69f-4257-8b0c-9f4e56e0d955 g.chrX:133700185G>T ENST00000359237.4 - 3 813 c.528C>A c.(526-528)gtC>gtA p.V176V PLAC1_ENST00000476971.1_5'UTR NM_021796.3 NP_068568.1 Q9HBJ0 PLAC1_HUMAN placenta-specific 1 176 placenta development extracellular region large_intestine(4)|lung(1)|pancreas(1) 6 Acute lymphoblastic leukemia(192;0.000127) GGTGACAAGGGACCTGGGTAT 0.488000 5 95 5.9392e-07 6.144e-07 1 1 0 SMARCA4 6597 broad.mit.edu 37 19 11132573 11132573 + Missense_Mutation SNP C C T TCGA-DJ-A2PU-01A-12D-A19J-08 TCGA-DJ-A2PU-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9251e90-066c-450b-8602-229b9417cb03 5cb6c4e0-c69f-4257-8b0c-9f4e56e0d955 g.chr19:11132573C>T ENST00000358026.2 + 19 3073 c.2789C>T c.(2788-2790)cCc>cTc p.P930L SMARCA4_ENST00000590574.1_Missense_Mutation_p.P930L|SMARCA4_ENST00000413806.3_Missense_Mutation_p.P930L|SMARCA4_ENST00000444061.3_Missense_Mutation_p.P930L|SMARCA4_ENST00000541122.2_Missense_Mutation_p.P930L|SMARCA4_ENST00000589677.1_Missense_Mutation_p.P930L|SMARCA4_ENST00000450717.3_Missense_Mutation_p.P930L|SMARCA4_ENST00000344626.4_Missense_Mutation_p.P930L|SMARCA4_ENST00000429416.3_Missense_Mutation_p.P930L NM_001128849.1 NP_001122321.1 P51532 SMCA4_HUMAN SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 930 Helicase ATP-binding. chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity p.?(1) adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 163 all_lung(6;0.0512)|Lung NSC(9;0.0568) TTCCTGCTGCCCACCATCTTC 0.612000 """F, N, Mis""" NSCLC 3 46 0 0 1 0 0 ENPEP 2028 broad.mit.edu 37 4 111434693 111434693 + Missense_Mutation SNP A A G TCGA-DJ-A2PU-01A-12D-A19J-08 TCGA-DJ-A2PU-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9251e90-066c-450b-8602-229b9417cb03 5cb6c4e0-c69f-4257-8b0c-9f4e56e0d955 g.chr4:111434693A>G ENST00000265162.5 + 7 1773 c.1431A>G c.(1429-1431)atA>atG p.I477M RP11-380D23.1_ENST00000503998.1_RNA NM_001977.3 NP_001968.3 Q07075 AMPE_HUMAN glutamyl aminopeptidase (aminopeptidase A) 477 cell migration|cell proliferation|cell-cell signaling|proteolysis integral to plasma membrane aminopeptidase activity|metalloexopeptidase activity|zinc ion binding breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(1) 54 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;0.0031) L-Glutamic Acid(DB00142) TTGATGGAATATCCTATAGCA 0.353000 45 56 0 0 1 0 0 DTYMK 1841 broad.mit.edu 37 2 242617953 242617953 + Missense_Mutation SNP G G T TCGA-DJ-A2PU-01A-12D-A19J-08 TCGA-DJ-A2PU-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9251e90-066c-450b-8602-229b9417cb03 5cb6c4e0-c69f-4257-8b0c-9f4e56e0d955 g.chr2:242617953G>T ENST00000305784.2 - 4 649 c.442C>A c.(442-444)Cat>Aat p.H148N NM_001165031.1|NM_012145.3 NP_001158503.1|NP_036277.2 P23919 KTHY_HUMAN deoxythymidylate kinase (thymidylate kinase) 148 cell cycle|cell proliferation|nucleobase, nucleoside and nucleotide interconversion cytosol ATP binding|nucleoside phosphate kinase activity|thymidylate kinase activity NS(1)|large_intestine(1)|lung(4)|urinary_tract(1) 7 all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244) Epithelial(32;1.6e-33)|all cancers(36;3.57e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.23e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0825) TAGCGCTCATGGCCAAACGCT 0.577000 33 45 4.62619e-21 5.14021e-21 1 1 0 EP400 57634 broad.mit.edu 37 12 132547087 132547087 + Silent SNP G G A rs12366766 TCGA-DJ-A2PU-01A-12D-A19J-08 TCGA-DJ-A2PU-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9251e90-066c-450b-8602-229b9417cb03 5cb6c4e0-c69f-4257-8b0c-9f4e56e0d955 g.chr12:132547087G>A ENST00000333577.4 + 48 8392 c.8283G>A c.(8281-8283)caG>caA p.Q2761Q EP400_ENST00000389562.2_Silent_p.Q2724Q|EP400_ENST00000332482.4_Silent_p.Q2688Q|EP400_ENST00000330386.6_Silent_p.Q2644Q|EP400_ENST00000389561.2_Silent_p.Q2725Q Q96L91 EP400_HUMAN E1A binding protein p400 2761 Interaction with ZNF42 (By similarity).|Poly-Gln. histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent NuA4 histone acetyltransferase complex|nuclear speck ATP binding|DNA binding|helicase activity p.Q2724Q(16)|p.Q2725Q(1) NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 161 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.198) OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06) agcagcagcagcaacaacagc 0.562000 4 51 0 0 1 0 0 TRIM43 129868 broad.mit.edu 37 2 96260870 96260870 + Missense_Mutation SNP G G A TCGA-DJ-A2PU-01A-12D-A19J-08 TCGA-DJ-A2PU-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9251e90-066c-450b-8602-229b9417cb03 5cb6c4e0-c69f-4257-8b0c-9f4e56e0d955 g.chr2:96260870G>A ENST00000272395.2 + 3 620 c.484G>A c.(484-486)Gga>Aga p.G162R NM_001164464.1|NM_138800.1 NP_001157936.1|NP_620155.1 Q96BQ3 TRI43_HUMAN tripartite motif containing 43 162 intracellular zinc ion binding p.G162R(2) breast(1)|large_intestine(3)|lung(7)|ovary(1) 12 ATATGAGGAGGGAAGAACAGC 0.398000 3 41 0 0 1 0 0 AMZ2P1 0 broad.mit.edu 37 17 62968690 62968690 + RNA SNP A A G rs138671696 by1000genomes TCGA-DJ-A2PU-01A-12D-A19J-08 TCGA-DJ-A2PU-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9251e90-066c-450b-8602-229b9417cb03 5cb6c4e0-c69f-4257-8b0c-9f4e56e0d955 g.chr17:62968690A>G ENST00000430983.1 - 0 1554 NR_026903.1 AAAATTCCACAAGTCTCTTGG 0.373000 7 117 0 0 1 0 0 ADAMTS7 11173 broad.mit.edu 37 15 79059040 79059040 + Silent SNP A A G rs144043775 by1000genomes TCGA-DJ-A2PU-01A-12D-A19J-08 TCGA-DJ-A2PU-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9251e90-066c-450b-8602-229b9417cb03 5cb6c4e0-c69f-4257-8b0c-9f4e56e0d955 g.chr15:79059040A>G ENST00000388820.4 - 19 3423 c.3213T>C c.(3211-3213)aaT>aaC p.N1071N NM_014272.3 NP_055087.2 Q9UKP4 ATS7_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 7 1071 proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding p.N1071N(2)|p.N1071S(2) NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9) 54 CCTCGTGGAAATTGATGAAAT 0.617000 3 44 0 0 1 0 0 LL22NC03-80A10.6 0 broad.mit.edu 37 22 22664743 22664743 + RNA SNP G G A TCGA-DJ-A2PU-01A-12D-A19J-08 TCGA-DJ-A2PU-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9251e90-066c-450b-8602-229b9417cb03 5cb6c4e0-c69f-4257-8b0c-9f4e56e0d955 g.chr22:22664743G>A ENST00000426066.1 + 0 924 NR_027293.1 CAGACTAAAGGCAAACAAGGA 0.498000 3 39 0 0 1 0 0 NUP43 348995 broad.mit.edu 37 6 150067675 150067675 + Missense_Mutation SNP A A G rs10872646 by1000genomes TCGA-DJ-A2PU-01A-12D-A19J-08 TCGA-DJ-A2PU-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9251e90-066c-450b-8602-229b9417cb03 5cb6c4e0-c69f-4257-8b0c-9f4e56e0d955 g.chr6:150067675A>G ENST00000367403.3 - 1 139 c.140T>C c.(139-141)gTa>gCa p.V47A NUP43_ENST00000340413.2_5'UTR|NUP43_ENST00000463048.3_Intron Q8NFH3 NUP43_HUMAN nucleoporin 43kDa 0 carbohydrate metabolic process|cell division|chromosome segregation|glucose transport|mitotic prometaphase|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction condensed chromosome kinetochore|cytosol|Nup107-160 complex protein binding breast(1)|large_intestine(2)|lung(8)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 18 Ovarian(120;0.0164) OV - Ovarian serous cystadenocarcinoma(155;4.71e-13)|GBM - Glioblastoma multiforme(68;0.101) CAAGCACAGTACGCGCCTCTC 0.552000 OREG0017720 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 4 67 0 0 1 0 0 ABCD1 215 broad.mit.edu 37 X 153001964 153001964 + Nonsense_Mutation SNP C C T rs128624221 TCGA-DJ-A2PU-01A-12D-A19J-08 TCGA-DJ-A2PU-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9251e90-066c-450b-8602-229b9417cb03 5cb6c4e0-c69f-4257-8b0c-9f4e56e0d955 g.chrX:153001964C>T ENST00000218104.3 + 4 1789 c.1390C>T c.(1390-1392)Cga>Tga p.R464* U52111.14_ENST00000434284.1_RNA NM_000033.3 NP_000024.2 P33897 ABCD1_HUMAN ATP-binding cassette, sub-family D (ALD), member 1 464 fatty acid beta-oxidation using acyl-CoA oxidase|peroxisomal membrane transport|peroxisome organization cytosol|integral to peroxisomal membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances|identical protein binding|peroxisomal fatty-acyl-CoA transporter activity breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|urinary_tract(2) 18 all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05) CCTGAAGATCCGAGGTAAGGC 0.657000 3 20 0 0 1 0 0 SPTBN1 0 broad.mit.edu 37 2 54856728 54856728 + Missense_Mutation SNP C C A TCGA-DJ-A2PU-01A-12D-A19J-08 TCGA-DJ-A2PU-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9251e90-066c-450b-8602-229b9417cb03 5cb6c4e0-c69f-4257-8b0c-9f4e56e0d955 g.chr2:54856728C>A ENST00000333896.5 + 13 2803 c.2418C>A c.(2416-2418)gaC>gaA p.D806E SPTBN1_ENST00000356805.4_Missense_Mutation_p.D819E NM_178313.2 NP_842565.2 Q01082 SPTB2_HUMAN spectrin, beta, non-erythrocytic 1 819 actin filament capping|axon guidance cytosol|nucleolus|plasma membrane|sarcomere|spectrin actin binding|calmodulin binding|protein binding|structural constituent of cytoskeleton NS(1)|breast(8)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(27)|ovary(4)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 82 Lung(47;0.24) AGTCTCCAGACGTGAGGGGCA 0.637000 28 45 2.79863e-10 2.99853e-10 1 1 0 ADAMTS7 11173 broad.mit.edu 37 15 79059041 79059041 + Missense_Mutation SNP T T C TCGA-DJ-A2PU-01A-12D-A19J-08 TCGA-DJ-A2PU-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9251e90-066c-450b-8602-229b9417cb03 5cb6c4e0-c69f-4257-8b0c-9f4e56e0d955 g.chr15:79059041T>C ENST00000388820.4 - 19 3422 c.3212A>G c.(3211-3213)aAt>aGt p.N1071S NM_014272.3 NP_055087.2 Q9UKP4 ATS7_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 7 1071 proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding p.N1071S(4) NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9) 54 CTCGTGGAAATTGATGAAATT 0.617000 3 43 0 0 1 0 0 TNFRSF8 0 broad.mit.edu 37 1 12170177 12170177 + Missense_Mutation SNP A A C TCGA-DJ-A2PU-01A-12D-A19J-08 TCGA-DJ-A2PU-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9251e90-066c-450b-8602-229b9417cb03 5cb6c4e0-c69f-4257-8b0c-9f4e56e0d955 g.chr1:12170177A>C ENST00000263932.2 + 6 814 c.592A>C c.(592-594)Acc>Ccc p.T198P TNFRSF8_ENST00000417814.2_Missense_Mutation_p.T87P NM_001243.3 NP_001234.2 P28908 TNR8_HUMAN tumor necrosis factor receptor superfamily, member 8 198 cellular response to mechanical stimulus|negative regulation of cell proliferation|positive regulation of apoptosis|positive regulation of TRAIL biosynthetic process|positive regulation of tumor necrosis factor biosynthetic process cytoplasm|integral to membrane|plasma membrane NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1) 27 Ovarian(185;0.249) Lung NSC(185;8.71e-05)|all_lung(284;9.89e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.66e-06)|COAD - Colon adenocarcinoma(227;0.000261)|BRCA - Breast invasive adenocarcinoma(304;0.000304)|Kidney(185;0.000777)|KIRC - Kidney renal clear cell carcinoma(229;0.00261)|STAD - Stomach adenocarcinoma(313;0.0073)|READ - Rectum adenocarcinoma(331;0.0649) AAGAGGGGGCACCCGCCTCGC 0.617000 7 39 0 0 1 0 0 ZNF600 162966 broad.mit.edu 37 19 53269533 53269533 + Silent SNP A A G rs149684999 TCGA-DJ-A2PU-01A-12D-A19J-08 TCGA-DJ-A2PU-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9251e90-066c-450b-8602-229b9417cb03 5cb6c4e0-c69f-4257-8b0c-9f4e56e0d955 g.chr19:53269533A>G ENST00000338230.3 - 3 1743 c.1476T>C c.(1474-1476)caT>caC p.H492H NM_198457.2 NP_940859.2 Q6ZNG1 ZN600_HUMAN zinc finger protein 600 492 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|endometrium(2)|kidney(4)|large_intestine(9)|liver(1)|lung(10)|prostate(1)|upper_aerodigestive_tract(1) 30 OV - Ovarian serous cystadenocarcinoma(262;0.0241)|GBM - Glioblastoma multiforme(134;0.0404) TCTCTCCACTATGAATTCTAG 0.423000 8 184 0 0 1 0 0 GLOD4 51031 broad.mit.edu 37 17 679033 679033 + Missense_Mutation SNP G G A TCGA-DJ-A2PU-01A-12D-A19J-08 TCGA-DJ-A2PU-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9251e90-066c-450b-8602-229b9417cb03 5cb6c4e0-c69f-4257-8b0c-9f4e56e0d955 g.chr17:679033G>A ENST00000301329.6 - 4 473 c.388C>T c.(388-390)Cgc>Tgc p.R130C GLOD4_ENST00000301328.5_Missense_Mutation_p.R145C|GLOD4_ENST00000536578.1_Missense_Mutation_p.R121C NM_016080.3 NP_057164.3 Q9HC38 GLOD4_HUMAN glyoxalase domain containing 4 145 mitochondrion endometrium(1)|large_intestine(1)|prostate(1) 3 UCEC - Uterine corpus endometrioid carcinoma (25;0.022) GGCAGACTGCGATTCTGCAAA 0.483000 22 62 0 0 1 0 0 UBE2O 63893 broad.mit.edu 37 17 74392381 74392381 + Missense_Mutation SNP C C T TCGA-DJ-A2PU-01A-12D-A19J-08 TCGA-DJ-A2PU-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9251e90-066c-450b-8602-229b9417cb03 5cb6c4e0-c69f-4257-8b0c-9f4e56e0d955 g.chr17:74392381C>T ENST00000319380.7 - 14 2701 c.2637G>A c.(2635-2637)atG>atA p.M879I NM_022066.3 NP_071349.3 Q9C0C9 UBE2O_HUMAN ubiquitin-conjugating enzyme E2O 879 ATP binding|ubiquitin-protein ligase activity breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1) 36 GCACTGCTTCCATCTTCTCCT 0.562000 15 190 0 0 1 0 0 NSUN5P1 0 broad.mit.edu 37 7 75044431 75044431 + RNA SNP C C T rs236650 by1000genomes TCGA-DJ-A2PU-01A-12D-A19J-08 TCGA-DJ-A2PU-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9251e90-066c-450b-8602-229b9417cb03 5cb6c4e0-c69f-4257-8b0c-9f4e56e0d955 g.chr7:75044431C>T ENST00000393633.2 + 0 3599 large_intestine(1)|lung(1) 2 GCTGGACCCCCGCCAGGCTCC 0.632000 4 32 0 0 1 0 0 ATXN1 6310 broad.mit.edu 37 6 16327912 16327912 + Missense_Mutation SNP C C A TCGA-DJ-A2PU-01A-12D-A19J-08 TCGA-DJ-A2PU-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9251e90-066c-450b-8602-229b9417cb03 5cb6c4e0-c69f-4257-8b0c-9f4e56e0d955 g.chr6:16327912C>A ENST00000244769.4 - 8 1566 c.630G>T c.(628-630)caG>caT p.Q210H ATXN1_ENST00000436367.1_Missense_Mutation_p.Q210H NM_000332.3 NP_000323.2 P54253 ATX1_HUMAN ataxin 1 210 Poly-Gln. cell death|negative regulation of transcription, DNA-dependent|nuclear export|RNA processing cytoplasm|nuclear inclusion body|nuclear matrix|nucleoplasm identical protein binding|poly(G) RNA binding|poly(U) RNA binding|protein binding|protein C-terminus binding|protein self-association p.H209_H211delHQH(1) NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(11)|lung(12)|prostate(2)|skin(7)|upper_aerodigestive_tract(2) 44 Breast(50;0.063)|Ovarian(93;0.0733) all_hematologic(90;0.000682)|Ovarian(999;0.00973) gctgctgatgctgatgctgct 0.667000 4 12 2.56e-06 2.56e-06 1 1 0 BRAF 673 broad.mit.edu 37 7 140453136 140453136 + Missense_Mutation SNP A A T rs121913377 TCGA-DJ-A2PU-01A-12D-A19J-08 TCGA-DJ-A2PU-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9251e90-066c-450b-8602-229b9417cb03 5cb6c4e0-c69f-4257-8b0c-9f4e56e0d955 g.chr7:140453136A>T ENST00000288602.6 - 15 1859 c.1799T>A c.(1798-1800)gTg>gAg p.V600E NM_004333.4 NP_004324.2 P15056 BRAF_HUMAN v-raf murine sarcoma viral oncogene homolog B 600 Protein kinase. V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis). activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission cytosol|nucleus|plasma membrane ATP binding|metal ion binding p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1) SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2) NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3) 27380 Melanoma(164;0.00956) Sorafenib(DB00398) TCGAGATTTCACTGTAGCTAG 0.368000 V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN) 61 """Mis, T, O""" """AKAP9, KIAA1549""" """melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma""" Cardio-facio-cutaneous syndrome Cardiofaciocutaneous syndrome 35 47 0 0 1 0 0 RPS6KB2 6199 broad.mit.edu 37 11 67201890 67201890 + Missense_Mutation SNP C C T TCGA-DJ-A2PU-01A-12D-A19J-08 TCGA-DJ-A2PU-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9251e90-066c-450b-8602-229b9417cb03 5cb6c4e0-c69f-4257-8b0c-9f4e56e0d955 g.chr11:67201890C>T ENST00000312629.5 + 13 1135 c.1090C>T c.(1090-1092)Cgg>Tgg p.R364W AP003419.16_ENST00000535922.1_RNA NM_003952.2 NP_003943.2 Q9UBS0 KS6B2_HUMAN ribosomal protein S6 kinase, 70kDa, polypeptide 2 364 AGC-kinase C-terminal. nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of translational initiation|translation nucleoplasm ATP binding|protein serine/threonine kinase activity breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|prostate(3)|salivary_gland(1)|stomach(2) 25 BRCA - Breast invasive adenocarcinoma(15;3.26e-06) CCGCTTCACACGGCAGACGCC 0.642000 5 51 0 0 1 0 0 MAP7D1 55700 broad.mit.edu 37 1 36643701 36643703 + In_Frame_Del DEL AGA AGA - rs3045695 TCGA-DJ-A2PU-01A-12D-A19J-08 TCGA-DJ-A2PU-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9251e90-066c-450b-8602-229b9417cb03 5cb6c4e0-c69f-4257-8b0c-9f4e56e0d955 g.chr1:36643701_36643703delAGA ENST00000316156.4 + 8 1949_1951 c.1496_1498delAGA c.(1495-1500)gag>g p.EK499del MAP7D1_ENST00000373148.4_In_Frame_Del_p.EK82del|MAP7D1_ENST00000373150.4_In_Frame_Del_p.EK504del|MAP7D1_ENST00000373151.2_In_Frame_Del_p.EK536del Q3KQU3 MA7D1_HUMAN MAP7 domain containing 1 536 Pro-rich. cytoplasm|spindle breast(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(3)|prostate(3)|skin(1)|urinary_tract(1) 19 Myeloproliferative disorder(586;0.0393) GCCAGTAACGAGAAGGAGTCAGC 0.719 3 5 --- --- --- --- LA16c-306E5.3 0 broad.mit.edu 37 16 3546140 3546141 + RNA INS - - A rs74546027 TCGA-DJ-A2PU-01A-12D-A19J-08 TCGA-DJ-A2PU-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9251e90-066c-450b-8602-229b9417cb03 5cb6c4e0-c69f-4257-8b0c-9f4e56e0d955 g.chr16:3546140_3546141insA ENST00000574423.2 + 0 111 gactccgtctcaaaaaaaaaaa 0.559 2 4 --- --- --- ---