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 GPR124 25960 broad.mit.edu 37 8 37690634 37690634 + Missense_Mutation SNP C C T TCGA-ET-A39S-01A-11D-A19J-08 TCGA-ET-A39S-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4715aaf8-bfde-4f8c-9099-6b87ed6f3fba 1330fdd2-5fa2-4f99-b8ed-a9b278650139 g.chr8:37690634C>T uc003xkj.3 + 8 1590 c.1204C>T c.(1204-1206)Cgg>Tgg p.R402W GPR124_uc010lvy.3_Missense_Mutation_p.R402W NM_032777 NP_116166 Q96PE1 GP124_HUMAN Homo sapiens G protein-coupled receptor 124 (GPR124), mRNA. 402 central nervous system development|endothelial cell migration|neuropeptide signaling pathway|regulation of angiogenesis|regulation of chemotaxis|sprouting angiogenesis integral to membrane|plasma membrane G-protein coupled receptor activity central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(16)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 37 BRCA - Breast invasive adenocarcinoma(5;2.75e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10) AGCCTCCCGCCGGTGTGACCG 0.667000 4 57 0 0 1 0 0 DNAH1 25981 broad.mit.edu 37 3 52356519 52356519 + Missense_Mutation SNP A A G TCGA-ET-A39S-01A-11D-A19J-08 TCGA-ET-A39S-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4715aaf8-bfde-4f8c-9099-6b87ed6f3fba 1330fdd2-5fa2-4f99-b8ed-a9b278650139 g.chr3:52356519A>G uc011bef.2 + 1 322 c.61A>G c.(61-63)Agc>Ggc p.S21G DNAH1_uc003ddt.1_Missense_Mutation_p.S21G NM_015512 NP_056327 Q9P2D7 DYH1_HUMAN Homo sapiens dynein, axonemal, heavy chain 1 (DNAH1), mRNA. 21 Stem (By similarity). ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1) 62 BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245) CCCAGAGTGCAGCAGTGCTCC 0.582000 10 46 0 0 1 0 0 SHPK 23729 broad.mit.edu 37 17 3518731 3518731 + Silent SNP T T C TCGA-ET-A39S-01A-11D-A19J-08 TCGA-ET-A39S-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4715aaf8-bfde-4f8c-9099-6b87ed6f3fba 1330fdd2-5fa2-4f99-b8ed-a9b278650139 g.chr17:3518731T>C uc002fvz.1 - 5 1027 c.924A>G c.(922-924)ccA>ccG p.P308P NM_013276 NP_037408 Q9UHJ6 SHPK_HUMAN Homo sapiens sedoheptulokinase (SHPK), mRNA. 308 carbohydrate metabolic process cytoplasm ATP binding|sedoheptulokinase activity breast(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 16 COAD - Colon adenocarcinoma(5;0.0828) TGTTGAAGTATGGGAAGTAGG 0.592000 20 47 0 0 1 0 0 MARS2 92935 broad.mit.edu 37 2 198571775 198571775 + Missense_Mutation SNP G G T TCGA-ET-A39S-01A-11D-A19J-08 TCGA-ET-A39S-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4715aaf8-bfde-4f8c-9099-6b87ed6f3fba 1330fdd2-5fa2-4f99-b8ed-a9b278650139 g.chr2:198571775G>T uc002uuq.3 + 0 1748 c.1646G>T c.(1645-1647)gGa>gTa p.G549V BC021693_uc002uup.3_Intron NM_138395 NP_612404 Q96GW9 SYMM_HUMAN Homo sapiens methionyl-tRNA synthetase 2, mitochondrial (MARS2), nuclear gene encoding mitochondrial protein, mRNA. 549 methionyl-tRNA aminoacylation mitochondrial matrix ATP binding|methionine-tRNA ligase activity p.G549*(1) breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 22 L-Methionine(DB00134) AGGAGTCTTGGAGAGCTCTAT 0.532000 48 148 0 0 1 0 0 BRAF 673 broad.mit.edu 37 7 140453136 140453136 + Missense_Mutation SNP A A T rs121913377 TCGA-ET-A39S-01A-11D-A19J-08 TCGA-ET-A39S-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4715aaf8-bfde-4f8c-9099-6b87ed6f3fba 1330fdd2-5fa2-4f99-b8ed-a9b278650139 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 27 56 0 0 1 0 0 SALL3 27164 broad.mit.edu 37 18 76753025 76753025 + Frame_Shift_Del DEL C C - TCGA-ET-A39S-01A-11D-A19J-08 TCGA-ET-A39S-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4715aaf8-bfde-4f8c-9099-6b87ed6f3fba 1330fdd2-5fa2-4f99-b8ed-a9b278650139 g.chr18:76753025delC uc002lmt.3 + 1 1034 c.1034delC c.(1033-1035)gccfs p.A345fs SALL3_uc010dra.3_5'Flank NM_171999 NP_741996 Q9BXA9 SALL3_HUMAN Homo sapiens sal-like 3 (Drosophila) (SALL3), mRNA. 345 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(40)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 74 Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167) OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256) ACGCCGCCTGCCCTGGCCCCG 0.781 2 4 --- --- --- ---