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 KIAA1549 57670 broad.mit.edu 37 7 138579148 138579148 + Silent SNP G G A TCGA-DJ-A2PQ-01A-11D-A18F-08 TCGA-DJ-A2PQ-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9fa0bb18-d8f2-481e-bba2-0afa565b9cf0 b817f147-c91b-4189-925b-c23951bff31f g.chr7:138579148G>A uc011kql.2 - 9 4021 c.3972C>T c.(3970-3972)tgC>tgT p.C1324C KIAA1549_uc011kqi.2_Silent_p.C108C|KIAA1549_uc011kqk.2_Silent_p.C108C|KIAA1549_uc011kqj.2_Silent_p.C1324C NM_001164665 NP_001158137 Q9HCM3 K1549_HUMAN Homo sapiens KIAA1549 (KIAA1549), transcript variant 2, mRNA. 1324 integral to membrane KIAA1549/BRAF(703) large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2) 7 TGTCTGTGCGGCATAGTTTCC 0.527000 O BRAF pilocytic astrocytoma 4 117 0 0 1 0 0 RDH10 157506 broad.mit.edu 37 8 74231385 74231385 + Missense_Mutation SNP A A G TCGA-DJ-A2PQ-01A-11D-A18F-08 TCGA-DJ-A2PQ-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9fa0bb18-d8f2-481e-bba2-0afa565b9cf0 b817f147-c91b-4189-925b-c23951bff31f g.chr8:74231385A>G uc003xzi.3 + 2 1268 c.580A>G c.(580-582)Aca>Gca p.T194A RDH10_uc003xzj.3_Missense_Mutation_p.T29A|AK128216_uc003xzk.1_Intron NM_172037 NP_742034 Q8IZV5 RDH10_HUMAN Homo sapiens retinol dehydrogenase 10 (all-trans) (RDH10), mRNA. 194 retinal metabolic process|retinol metabolic process|visual perception endoplasmic reticulum membrane|integral to membrane|microsome NADP-retinol dehydrogenase activity|binding|retinol dehydrogenase activity breast(1)|endometrium(1)|large_intestine(3)|lung(5)|skin(1) 11 Breast(64;0.0954) Epithelial(68;0.0105)|all cancers(69;0.0465)|BRCA - Breast invasive adenocarcinoma(89;0.0608) TCATATTGTGACAGTTGCAAG 0.368000 3 109 0 0 1 0 0 INHBE 83729 broad.mit.edu 37 12 57850257 57850257 + Missense_Mutation SNP G G A TCGA-DJ-A2PQ-01A-11D-A18F-08 TCGA-DJ-A2PQ-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9fa0bb18-d8f2-481e-bba2-0afa565b9cf0 b817f147-c91b-4189-925b-c23951bff31f g.chr12:57850257G>A uc001snw.3 + 1 903 c.679G>A c.(679-681)Gag>Aag p.E227K NM_031479 NP_113667 P58166 INHBE_HUMAN Homo sapiens inhibin, beta E (INHBE), mRNA. 227 growth extracellular region growth factor activity|hormone activity breast(2)|central_nervous_system(1)|large_intestine(2)|lung(7)|prostate(1)|skin(2) 15 CCGAGCCAATGAGCCTGGAGC 0.602000 OREG0021944 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 5 124 0 0 1 0 0 ZNF80 7634 broad.mit.edu 37 3 113955140 113955140 + Missense_Mutation SNP G G T TCGA-DJ-A2PQ-01A-11D-A18F-08 TCGA-DJ-A2PQ-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9fa0bb18-d8f2-481e-bba2-0afa565b9cf0 b817f147-c91b-4189-925b-c23951bff31f g.chr3:113955140G>T uc010hqo.3 - 0 1286 c.782C>A c.(781-783)gCc>gAc p.A261D ZNF80_uc003ebf.3_Non-coding_Transcript NM_007136 NP_009067 P51504 ZNF80_HUMAN Homo sapiens zinc finger protein 80 (ZNF80), mRNA. 261 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|endometrium(1)|large_intestine(9)|lung(15)|ovary(2)|prostate(2)|urinary_tract(2) 32 Lung NSC(201;0.0233)|all_neural(597;0.0837) ACTCTGTTGGGCAAAAGCAGA 0.403000 5 92 0 0 1 0 0 FBF1 85302 broad.mit.edu 37 17 73908312 73908312 + Silent SNP G G A TCGA-DJ-A2PQ-01A-11D-A18F-08 TCGA-DJ-A2PQ-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9fa0bb18-d8f2-481e-bba2-0afa565b9cf0 b817f147-c91b-4189-925b-c23951bff31f g.chr17:73908312G>A uc002jqc.3 - 27 3553 c.3279C>T c.(3277-3279)ctC>ctT p.L1093L FBF1_uc002jqa.1_Non-coding_Transcript|FBF1_uc010wsp.2_Silent_p.L1084L|MRPL38_uc002jpz.1_5'Flank|FBF1_uc002jqb.3_Non-coding_Transcript|FBF1_uc010dgr.2_Silent_p.L403L NM_001080542 NP_001074011 A6NLR5 A6NLR5_HUMAN Homo sapiens Fas (TNFRSF6) binding factor 1 (FBF1), mRNA. 1093 large_intestine(2)|ovary(1)|upper_aerodigestive_tract(1) 4 GCCTGGCATGGAGGTGCAAGG 0.632000 7 18 0 0 1 0 0 BRAF 673 broad.mit.edu 37 7 140453136 140453136 + Missense_Mutation SNP A A T rs121913377 TCGA-DJ-A2PQ-01A-11D-A18F-08 TCGA-DJ-A2PQ-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9fa0bb18-d8f2-481e-bba2-0afa565b9cf0 b817f147-c91b-4189-925b-c23951bff31f 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 19 20 0 0 1 0 0 TRAPPC6A 79090 broad.mit.edu 37 19 45668203 45668203 + Missense_Mutation SNP T T C TCGA-DJ-A2PQ-01A-11D-A18F-08 TCGA-DJ-A2PQ-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9fa0bb18-d8f2-481e-bba2-0afa565b9cf0 b817f147-c91b-4189-925b-c23951bff31f g.chr19:45668203T>C uc002pav.3 - 2 229 c.220A>G c.(220-222)Agg>Ggg p.R74G TRAPPC6A_uc002paw.3_Missense_Mutation_p.R60G NM_024108 NP_077013 O75865 TPC6A_HUMAN Homo sapiens trafficking protein particle complex 6A (TRAPPC6A), mRNA. 60 vesicle-mediated transport Golgi apparatus|endoplasmic reticulum guanylate cyclase activity|heme binding p.R74M(1) autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|prostate(2) 8 all_neural(266;0.224)|Ovarian(192;0.231) OV - Ovarian serous cystadenocarcinoma(262;0.00872)|GBM - Glioblastoma multiforme(486;0.233) AGCTCCTCCCTGAAGGCCAGC 0.637000 3 80 0 0 1 0 0 SNX17 9784 broad.mit.edu 37 2 27599354 27599354 + Silent SNP T T C TCGA-DJ-A2PQ-01A-11D-A18F-08 TCGA-DJ-A2PQ-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9fa0bb18-d8f2-481e-bba2-0afa565b9cf0 b817f147-c91b-4189-925b-c23951bff31f g.chr2:27599354T>C uc002rkg.1 + 13 1488 c.1266T>C c.(1264-1266)ccT>ccC p.P422P SNX17_uc010ylj.1_Silent_p.P402P|SNX17_uc002rki.1_Non-coding_Transcript|SNX17_uc002rkh.1_Silent_p.P208P|SNX17_uc010yll.1_Silent_p.P208P|SNX17_uc010ylm.1_Silent_p.P208P|SNX17_uc010yln.1_Silent_p.P410P|SNX17_uc010ylo.1_Silent_p.P340P|SNX17_uc010ylp.1_Silent_p.P397P|SNX17_uc010ylk.1_Silent_p.P208P|SNX17_uc010eza.1_Silent_p.P208P|SNX17_uc010ylq.1_Silent_p.P208P NM_014748 NP_055563 Q15036 SNX17_HUMAN Homo sapiens sorting nexin 17 (SNX17), mRNA. 422 cell communication|endosome transport|intracellular protein transport|regulation of endocytosis|signal transduction Golgi apparatus|cytoplasmic vesicle membrane|cytosol|early endosome low-density lipoprotein particle receptor binding|phosphatidylinositol binding|protein C-terminus binding central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(4)|ovary(1) 14 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) AGGAGTCACCTGATGCCACCC 0.552000 3 100 0 0 1 0 0 OR7C2 26658 broad.mit.edu 37 19 15052786 15052786 + Silent SNP C C A TCGA-DJ-A2PQ-01A-11D-A18F-08 TCGA-DJ-A2PQ-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9fa0bb18-d8f2-481e-bba2-0afa565b9cf0 b817f147-c91b-4189-925b-c23951bff31f g.chr19:15052786C>A uc010xoc.2 + 0 486 c.486C>A c.(484-486)acC>acA p.T162T NM_012377 NP_036509 O60412 OR7C2_HUMAN Homo sapiens olfactory receptor, family 7, subfamily C, member 2 (OR7C2), mRNA. 162 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity large_intestine(3)|lung(8)|ovary(2)|skin(2) 15 Ovarian(108;0.203) AGACCTTGACCATTTTGAGGC 0.507000 85 130 0 0 1 0 0 MATR3 9782 broad.mit.edu 37 5 138643991 138643991 + Missense_Mutation SNP G G T TCGA-DJ-A2PQ-01A-11D-A18F-08 TCGA-DJ-A2PQ-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9fa0bb18-d8f2-481e-bba2-0afa565b9cf0 b817f147-c91b-4189-925b-c23951bff31f g.chr5:138643991G>T uc003ldw.3 + 2 1290 c.887G>T c.(886-888)tGt>tTt p.C296F MATR3_uc003lds.3_Missense_Mutation_p.C296F|MATR3_uc003ldt.3_Intron|MATR3_uc003ldu.3_Missense_Mutation_p.C296F|MATR3_uc010jfb.3_Missense_Mutation_p.C296F|MATR3_uc003ldx.3_Missense_Mutation_p.C296F|MATR3_uc003ldy.3_Intron|MATR3_uc003ldz.3_Missense_Mutation_p.C296F|MATR3_uc011czb.2_Intron NM_018834 NP_954659 P43243 MATR3_HUMAN Homo sapiens matrin 3 (MATR3), transcript variant 2, mRNA. 296 nuclear inner membrane|nuclear matrix RNA binding|nucleotide binding|protein binding|structural molecule activity|zinc ion binding breast(2)|endometrium(3)|kidney(4)|large_intestine(6)|lung(9)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 29 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325) TGCTCTATATGTGATTTGCCA 0.378000 4 106 0 0 1 0 0