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 COL1A2 1278 broad.mit.edu 37 7 94055354 94055354 + Missense_Mutation SNP A A T TCGA-EM-A2P1-06A-11D-A202-08 TCGA-EM-A2P1-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx eaabd638-cdec-42b7-91f1-fe021c960727 019e120c-aefd-4aa7-a80f-6aa6fea09969 g.chr7:94055354A>T uc003ung.1 + 44 3459 c.2988A>T c.(2986-2988)agA>agT p.R996S COL1A2_uc011kib.1_Intron NM_000089 NP_000080 P08123 CO1A2_HUMAN Homo sapiens collagen, type I, alpha 2 (COL1A2), mRNA. 996 Rho protein signal transduction|axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway collagen type I|extracellular space|plasma membrane extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging COL1A2/PLAG1(3) NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1) 115 all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08) STAD - Stomach adenocarcinoma(171;0.0031) Collagenase(DB00048) TTGGCCCAAGAGGTCCTAGTG 0.423000 HNSCC(75;0.22) 6 107 0 0 1 0 0 TMCO2 127391 broad.mit.edu 37 1 40713721 40713721 + Missense_Mutation SNP G G C TCGA-EM-A2P1-06A-11D-A202-08 TCGA-EM-A2P1-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx eaabd638-cdec-42b7-91f1-fe021c960727 019e120c-aefd-4aa7-a80f-6aa6fea09969 g.chr1:40713721G>C uc001cfe.2 + 0 149 c.56G>C c.(55-57)aGc>aCc p.S19T NM_001008740 NP_001008740 Q7Z6W1 TMCO2_HUMAN Homo sapiens transmembrane and coiled-coil domains 2 (TMCO2), mRNA. 19 integral to membrane kidney(1)|large_intestine(3)|lung(1)|ovary(1) 6 Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;6.3e-18) CTCTCTCTCAGCACAGTATGG 0.428000 8 283 0 0 1 0 0 ZNF434 54925 broad.mit.edu 37 16 3434723 3434723 + Missense_Mutation SNP G G C TCGA-EM-A2P1-06A-11D-A202-08 TCGA-EM-A2P1-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx eaabd638-cdec-42b7-91f1-fe021c960727 019e120c-aefd-4aa7-a80f-6aa6fea09969 g.chr16:3434723G>C uc002cux.4 - 5 1226 c.967C>G c.(967-969)Cgt>Ggt p.R323G ZNF434_uc010uwx.2_Missense_Mutation_p.R35G|ZNF434_uc002cuy.4_Missense_Mutation_p.R35G|ZNF434_uc002cuz.3_Missense_Mutation_p.R112G|ZNF434_uc010uwy.1_Missense_Mutation_p.R35G|ZNF434_uc010uwz.1_Missense_Mutation_p.R323G|ZNF434_uc010uxa.1_Missense_Mutation_p.R112G NM_017810 NP_060280 Q9NX65 ZN434_HUMAN Homo sapiens zinc finger protein 434 (ZNF434), mRNA. 112 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|liver(1)|lung(9)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 31 TCAGGCACACGGCCTCTCCTC 0.542000 10 262 0 0 1 0 0 FCGRT 2217 broad.mit.edu 37 19 50017183 50017183 + Missense_Mutation SNP C C G TCGA-EM-A2P1-06A-11D-A202-08 TCGA-EM-A2P1-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx eaabd638-cdec-42b7-91f1-fe021c960727 019e120c-aefd-4aa7-a80f-6aa6fea09969 g.chr19:50017183C>G uc002poe.2 + 2 604 c.118C>G c.(118-120)Cct>Gct p.P40A FCGRT_uc002pog.2_Missense_Mutation_p.P40A|FCGRT_uc002pof.2_5'UTR|FCGRT_uc010yax.2_Missense_Mutation_p.P40A|FCGRT_uc002poh.2_5'Flank NM_001136019 NP_004098 P55899 FCGRN_HUMAN Homo sapiens Fc fragment of IgG, receptor, transporter, alpha (FCGRT), transcript variant 1, mRNA. 40 Alpha-1. antigen processing and presentation|female pregnancy|immune response MHC class I protein complex|integral to membrane IgG binding|receptor activity endometrium(3)|kidney(2)|lung(1)|ovary(1)|prostate(1)|skin(1) 9 all_lung(116;7.84e-06)|Lung NSC(112;2.8e-05)|all_neural(266;0.0966)|Ovarian(192;0.231) OV - Ovarian serous cystadenocarcinoma(262;0.00291)|GBM - Glioblastoma multiforme(134;0.0156) GGTGTCCTCGCCTGCCCCGGG 0.657000 60 175 0 0 1 0 0 BRAF 673 broad.mit.edu 37 7 140453136 140453136 + Missense_Mutation SNP A A T rs121913377 TCGA-EM-A2P1-06A-11D-A202-08 TCGA-EM-A2P1-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx eaabd638-cdec-42b7-91f1-fe021c960727 019e120c-aefd-4aa7-a80f-6aa6fea09969 g.chr7:140453136A>T uc003vwc.4 - 14 1860 c.1799T>A c.(1798-1800)gTg>gAg p.V600E NM_004333 NP_004324 P15056 BRAF_HUMAN Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA. 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(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(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 15 63 0 0 1 0 0 XRN1 54464 broad.mit.edu 37 3 142037638 142037638 + Silent SNP T T C TCGA-EM-A2P1-06A-11D-A202-08 TCGA-EM-A2P1-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx eaabd638-cdec-42b7-91f1-fe021c960727 019e120c-aefd-4aa7-a80f-6aa6fea09969 g.chr3:142037638T>C uc003eus.3 - 37 4576 c.4509A>G c.(4507-4509)caA>caG p.Q1503Q XRN1_uc010huu.3_Silent_p.Q970Q|XRN1_uc003eut.3_Silent_p.Q1503Q|XRN1_uc003euu.3_Silent_p.Q1504Q NM_019001 NP_061874 Q8IZH2 XRN1_HUMAN Homo sapiens 5'-3' exoribonuclease 1 (XRN1), transcript variant 1, mRNA. 1503 exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|histone mRNA catabolic process|nuclear mRNA surveillance|rRNA catabolic process Golgi apparatus|cytosol|intermediate filament cytoskeleton|plasma membrane 5'-3' exonuclease activity|DNA binding|RNA binding|protein binding NS(1)|breast(3)|endometrium(6)|kidney(12)|large_intestine(11)|liver(1)|lung(17)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 61 TTACCAACTGTTGTAAAGCAA 0.363000 16 53 0 0 1 0 0 GRAMD4 23151 broad.mit.edu 37 22 47059056 47059056 + Silent SNP C C T rs145387351 TCGA-EM-A2P1-06A-11D-A202-08 TCGA-EM-A2P1-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx eaabd638-cdec-42b7-91f1-fe021c960727 019e120c-aefd-4aa7-a80f-6aa6fea09969 g.chr22:47059056C>T uc003bhx.3 + 4 635 c.586C>T c.(586-588)Ctg>Ttg p.L196L GRAMD4_uc010had.3_Silent_p.L135L NM_015124 NP_055939 Q6IC98 GRAM4_HUMAN Homo sapiens GRAM domain containing 4 (GRAMD4), mRNA. 196 apoptosis integral to membrane|mitochondrial membrane breast(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1) 12 Breast(42;0.00571)|Ovarian(80;0.00965)|all_neural(38;0.0416) UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)|BRCA - Breast invasive adenocarcinoma(115;0.166) AGAGGAACCCCTGAGCGCCCG 0.657000 25 95 0 0 1 0 0 OTX1 5013 broad.mit.edu 37 2 63283329 63283329 + Missense_Mutation SNP G G A TCGA-EM-A2P1-06A-11D-A202-08 TCGA-EM-A2P1-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx eaabd638-cdec-42b7-91f1-fe021c960727 019e120c-aefd-4aa7-a80f-6aa6fea09969 g.chr2:63283329G>A uc021vim.1 + 4 1219 c.943G>A c.(943-945)Gac>Aac p.D315N OTX1_uc002scd.3_Missense_Mutation_p.D315N|OTX1_uc010ypt.2_Missense_Mutation_p.D249N NM_001199770 NP_001186699 P32242 OTX1_HUMAN Homo sapiens orthodenticle homeobox 1 (OTX1), transcript variant 2, mRNA. 315 nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity p.D315E(1)|p.A314A(1) endometrium(1)|kidney(2)|large_intestine(6)|lung(6)|pancreas(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 20 Lung NSC(7;0.121)|all_lung(7;0.211) CAACTCTGCCGACTGCTTGGA 0.607000 12 60 0 0 1 0 0