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 BRAF 673 broad.mit.edu 37 7 140453136 140453136 + Missense_Mutation SNP A A T rs121913377 TCGA-ET-A2MZ-01A-12D-A19J-08 TCGA-ET-A2MZ-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 654b03aa-d212-4e95-ac1b-a0208691cb0e 85072b72-45e1-451a-9caf-7fb88b4f3cd7 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 38 60 0 0 1 0 0 SLX4 84464 broad.mit.edu 37 16 3642722 3642722 + Missense_Mutation SNP C C G rs150712805 byFrequency TCGA-ET-A2MZ-01A-12D-A19J-08 TCGA-ET-A2MZ-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 654b03aa-d212-4e95-ac1b-a0208691cb0e 85072b72-45e1-451a-9caf-7fb88b4f3cd7 g.chr16:3642722C>G uc002cvp.2 - 10 2932 c.2305G>C c.(2305-2307)Gag>Cag p.E769Q NM_032444 NP_115820 Q8IY92 SLX4_HUMAN Homo sapiens SLX4 structure-specific endonuclease subunit homolog (S. cerevisiae) (SLX4), mRNA. 769 Interaction with PLK1 and TERF2-TERF2IP. DNA double-strand break processing involved in repair via single-strand annealing|double-strand break repair via homologous recombination|nucleotide-excision repair Slx1-Slx4 complex enzyme activator activity|protein binding breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 76 GAGCTCAGCTCAGAGCTAAGG 0.597000 Direct reversal of damage 3 23 0 0 1 0 0 HAAO 23498 broad.mit.edu 37 2 43010952 43010952 + Missense_Mutation SNP T T A TCGA-ET-A2MZ-01A-12D-A19J-08 TCGA-ET-A2MZ-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 654b03aa-d212-4e95-ac1b-a0208691cb0e 85072b72-45e1-451a-9caf-7fb88b4f3cd7 g.chr2:43010952T>A uc002rst.4 - 2 290 c.215A>T c.(214-216)cAc>cTc p.H72L HAAO_uc010ynw.1_Missense_Mutation_p.H72L NM_012205 NP_036337 P46952 3HAO_HUMAN Homo sapiens 3-hydroxyanthranilate 3,4-dioxygenase (HAAO), mRNA. 72 Domain A (catalytic) (By similarity). neuron homeostasis|pyridine nucleotide biosynthetic process|quinolinate biosynthetic process|response to cadmium ion|response to zinc ion|tryptophan catabolic process cytosol|soluble fraction 3-hydroxyanthranilate 3,4-dioxygenase activity|electron carrier activity|ferrous iron binding breast(2)|cervix(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|urinary_tract(2) 11 CACATCCCGGTGTTTCCCTTG 0.602000 7 12 0 0 1 0 0 GPR124 25960 broad.mit.edu 37 8 37693173 37693173 + Silent SNP G G A TCGA-ET-A2MZ-01A-12D-A19J-08 TCGA-ET-A2MZ-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 654b03aa-d212-4e95-ac1b-a0208691cb0e 85072b72-45e1-451a-9caf-7fb88b4f3cd7 g.chr8:37693173G>A uc003xkj.3 + 12 2321 c.1935G>A c.(1933-1935)ctG>ctA p.L645L GPR124_uc010lvy.3_Intron NM_032777 NP_116166 Q96PE1 GP124_HUMAN Homo sapiens G protein-coupled receptor 124 (GPR124), mRNA. 645 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) CCCTGCAACTGCTCGTCTTCC 0.682000 30 81 0 0 1 0 0 ZNF254 9534 broad.mit.edu 37 19 24288767 24288767 + Missense_Mutation SNP C C T TCGA-ET-A2MZ-01A-12D-A19J-08 TCGA-ET-A2MZ-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 654b03aa-d212-4e95-ac1b-a0208691cb0e 85072b72-45e1-451a-9caf-7fb88b4f3cd7 g.chr19:24288767C>T uc002nru.3 + 1 190 c.56C>T c.(55-57)gCc>gTc p.A19V ZNF254_uc010xrk.2_Intron|ZNF254_uc002nrt.1_Non-coding_Transcript NM_203282 NP_975011 O75437 ZN254_HUMAN Homo sapiens zinc finger protein 254 (ZNF254), mRNA. 19 KRAB. negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nucleus DNA binding|zinc ion binding all_cancers(12;0.086)|all_lung(12;0.00528)|Lung NSC(12;0.00731)|all_epithelial(12;0.0186) AGGGATGTGGCCATAGAATTC 0.408000 64 121 0 0 1 0 0