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 CTBS 1486 broad.mit.edu 37 1 85028950 85028950 + Missense_Mutation SNP T T C TCGA-EM-A4FQ-01A-11D-A257-08 TCGA-EM-A4FQ-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 396f1d6b-5434-4c77-908c-24cdb5af5671 9172fce9-fc68-4679-b6b2-019262cb0f09 g.chr1:85028950T>C uc001dka.2 - 5 1012 c.947A>G c.(946-948)tAt>tGt p.Y316C CTBS_uc001dkc.3_Missense_Mutation_p.Y225C|CTBS_uc001dkb.2_Missense_Mutation_p.Y110C NM_004388 NP_004379 Q01459 DIAC_HUMAN Homo sapiens chitobiase, di-N-acetyl- (CTBS), mRNA. 316 lysosome cation binding breast(1)|endometrium(1)|large_intestine(4)|lung(2)|ovary(1) 9 all cancers(265;0.00727)|Epithelial(280;0.0192)|OV - Ovarian serous cystadenocarcinoma(397;0.166) TTTATAGTTATAATAAGGAGC 0.323000 10 19 0 0 1 0 0 NUP93 9688 broad.mit.edu 37 16 56782202 56782202 + Nonsense_Mutation SNP C C T TCGA-EM-A4FQ-01A-11D-A257-08 TCGA-EM-A4FQ-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 396f1d6b-5434-4c77-908c-24cdb5af5671 9172fce9-fc68-4679-b6b2-019262cb0f09 g.chr16:56782202C>T uc002eka.3 + 1 164 c.43C>T c.(43-45)Cag>Tag p.Q15* NM_014669 NP_001229725 Q8N1F7 NUP93_HUMAN Homo sapiens nucleoporin 93kDa (NUP93), transcript variant 1, mRNA. 15 carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction nuclear pore protein binding p.E14K(3)|p.Q15*(2) breast(2)|endometrium(6)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 27 GCAAGCTGAACAGCTTGCTGC 0.517000 19 41 0 0 1 0 0 FMO1 2326 broad.mit.edu 37 1 171249978 171249978 + Silent SNP G G A TCGA-EM-A4FQ-01A-11D-A257-08 TCGA-EM-A4FQ-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 396f1d6b-5434-4c77-908c-24cdb5af5671 9172fce9-fc68-4679-b6b2-019262cb0f09 g.chr1:171249978G>A uc009wvz.3 + 5 817 c.681G>A c.(679-681)tcG>tcA p.S227S FMO1_uc010pme.2_Silent_p.S164S|FMO1_uc001ghl.3_Silent_p.S227S|FMO1_uc001ghm.3_Silent_p.S227S NM_002021 NP_002012 Q01740 FMO1_HUMAN Homo sapiens flavin containing monooxygenase 1 (FMO1), mRNA. 227 S -> T. NADPH oxidation|organic acid metabolic process|toxin metabolic process|xenobiotic metabolic process endoplasmic reticulum lumen|integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome NADP binding|flavin adenine dinucleotide binding|flavin-containing monooxygenase activity NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|prostate(2)|skin(2) 27 all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181) TCTTTGACTCGGGCTACCCAT 0.502000 4 53 0 0 1 0 0 TGFBR2 7048 broad.mit.edu 37 3 30713340 30713340 + Missense_Mutation SNP A A G TCGA-EM-A4FQ-01A-11D-A257-08 TCGA-EM-A4FQ-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 396f1d6b-5434-4c77-908c-24cdb5af5671 9172fce9-fc68-4679-b6b2-019262cb0f09 g.chr3:30713340A>G uc003cen.3 + 4 1122 c.740A>G c.(739-741)gAt>gGt p.D247G TGFBR2_uc021wut.1_Missense_Mutation_p.D100G|TGFBR2_uc003ceo.3_Missense_Mutation_p.D222G NM_001024847 NP_001020018 P37173 TGFR2_HUMAN Homo sapiens transforming growth factor, beta receptor II (70/80kDa) (TGFBR2), transcript variant 1, mRNA. 222 Protein kinase. activation of protein kinase activity|brain development|embryonic cranial skeleton morphogenesis|embryonic hemopoiesis|heart development|myeloid dendritic cell differentiation|palate development|pathway-restricted SMAD protein phosphorylation|patterning of blood vessels|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of B cell tolerance induction|positive regulation of NK T cell differentiation|positive regulation of T cell tolerance induction|positive regulation of mesenchymal cell proliferation|positive regulation of reactive oxygen species metabolic process|positive regulation of tolerance induction to self antigen|response to cholesterol|response to drug|transforming growth factor beta receptor signaling pathway|vasculogenesis caveola|external side of plasma membrane ATP binding|SMAD binding|glycosaminoglycan binding|metal ion binding|protein binding|receptor signaling protein serine/threonine kinase activity|transforming growth factor beta binding|transforming growth factor beta receptor activity, type II|type I transforming growth factor beta receptor binding|type III transforming growth factor beta receptor binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(15)|lung(10)|ovary(3)|pancreas(12)|skin(1)|stomach(5)|upper_aerodigestive_tract(2) 53 ATCCTGGAAGATGACCGCTCT 0.562000 17 24 0 0 1 0 0 BRAF 673 broad.mit.edu 37 7 140453136 140453136 + Missense_Mutation SNP A A T rs121913377 TCGA-EM-A4FQ-01A-11D-A257-08 TCGA-EM-A4FQ-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 396f1d6b-5434-4c77-908c-24cdb5af5671 9172fce9-fc68-4679-b6b2-019262cb0f09 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 26 35 0 0 1 0 0 TRPC7 57113 broad.mit.edu 37 5 135651397 135651397 + Missense_Mutation SNP G G C TCGA-EM-A4FQ-01A-11D-A257-08 TCGA-EM-A4FQ-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 396f1d6b-5434-4c77-908c-24cdb5af5671 9172fce9-fc68-4679-b6b2-019262cb0f09 g.chr5:135651397G>C uc003lbn.2 - 2 1073 c.851C>G c.(850-852)aCa>aGa p.T284R TRPC7_uc010jef.2_Missense_Mutation_p.T275R|TRPC7_uc010jeg.2_Non-coding_Transcript|TRPC7_uc010jej.2_Intron|TRPC7_uc010jeh.2_Intron|TRPC7_uc010jei.2_Intron NM_020389 NP_065122 Q9HCX4 TRPC7_HUMAN Homo sapiens transient receptor potential cation channel, subfamily C, member 7 (TRPC7), transcript variant 1, mRNA. 284 axon guidance|platelet activation integral to membrane|plasma membrane calcium channel activity|protein binding NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(3) 46 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233) CACCTCTTCTGTGTCTCGGCA 0.463000 13 28 0 0 1 0 0 C16orf46 123775 broad.mit.edu 37 16 81095125 81095125 + Missense_Mutation SNP C C T TCGA-EM-A4FQ-01A-11D-A257-08 TCGA-EM-A4FQ-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 396f1d6b-5434-4c77-908c-24cdb5af5671 9172fce9-fc68-4679-b6b2-019262cb0f09 g.chr16:81095125C>T uc002fgc.4 - 3 1088 c.829G>A c.(829-831)Gac>Aac p.D277N C16orf46_uc010chf.3_Missense_Mutation_p.D277N|C16orf46_uc010vno.2_Missense_Mutation_p.D4N NM_152337 NP_689550 Q6P387 CP046_HUMAN Homo sapiens chromosome 16 open reading frame 46 (C16orf46), transcript variant 2, mRNA. 277 NS(1)|endometrium(2)|large_intestine(3)|lung(9)|prostate(1)|stomach(1)|urinary_tract(1) 18 GATGGCGTGTCGTTGACCATA 0.557000 48 93 0 0 1 0 0 COL8A2 1296 broad.mit.edu 37 1 36564482 36564482 + Missense_Mutation SNP C C T TCGA-EM-A4FQ-01A-11D-A257-08 TCGA-EM-A4FQ-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 396f1d6b-5434-4c77-908c-24cdb5af5671 9172fce9-fc68-4679-b6b2-019262cb0f09 g.chr1:36564482C>T uc001bzv.2 - 1 807 c.800G>A c.(799-801)gGa>gAa p.G267E COL8A2_uc001bzw.2_Missense_Mutation_p.G202E NM_005202 NP_005193 P25067 CO8A2_HUMAN Homo sapiens collagen, type VIII, alpha 2 (COL8A2), mRNA. 267 Triple-helical region. angiogenesis|cell-cell adhesion|extracellular matrix organization basement membrane|collagen extracellular matrix structural constituent|protein binding, bridging NS(2)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 17 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164) GCCCACAGCTCCTGGCTCCCC 0.662000 11 9 0 0 1 0 0