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 TAPBP 6892 broad.mit.edu 37 6 33281527 33281527 + Missense_Mutation SNP G G A TCGA-EL-A4KH-01A-11D-A257-08 TCGA-EL-A4KH-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f751da92-34f7-4f6b-93c8-1946d3e1e068 11398e17-c47c-4c24-852f-e642cf930718 g.chr6:33281527G>A uc003odz.3 - 1 498 c.152C>T c.(151-153)cCg>cTg p.P51L TAPBP_uc003odx.2_Missense_Mutation_p.P51L|TAPBP_uc010jut.2_Missense_Mutation_p.P51L|TAPBP_uc003ody.3_Missense_Mutation_p.P51L|TAPBP_uc011drc.2_Missense_Mutation_p.P51L NM_172208 NP_757345 O15533 TPSN_HUMAN Homo sapiens TAP binding protein (tapasin) (TAPBP), transcript variant 2, mRNA. 51 antigen processing and presentation of endogenous peptide antigen via MHC class I|immune response|peptide antigen stabilization|protein complex assembly|retrograde vesicle-mediated transport, Golgi to ER Golgi membrane|MHC class I peptide loading complex|microsome MHC class I protein binding|TAP1 binding|TAP2 binding|peptide antigen binding|peptide antigen-transporting ATPase activity|unfolded protein binding endometrium(2)|large_intestine(5)|lung(8)|ovary(3) 18 CGGTTCCCCCGGTCCCTGGCG 0.672000 7 42 0 0 1 0 0 BRAF 673 broad.mit.edu 37 7 140453136 140453136 + Missense_Mutation SNP A A T rs121913377 TCGA-EL-A4KH-01A-11D-A257-08 TCGA-EL-A4KH-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f751da92-34f7-4f6b-93c8-1946d3e1e068 11398e17-c47c-4c24-852f-e642cf930718 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 20 43 0 0 1 0 0 ZNF777 27153 broad.mit.edu 37 7 149152881 149152881 + Missense_Mutation SNP C C A TCGA-EL-A4KH-01A-11D-A257-08 TCGA-EL-A4KH-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f751da92-34f7-4f6b-93c8-1946d3e1e068 11398e17-c47c-4c24-852f-e642cf930718 g.chr7:149152881C>A uc003wfv.3 - 1 396 c.233G>T c.(232-234)gGa>gTa p.G78V NM_015694 NP_056509 Q9ULD5 ZN777_HUMAN Homo sapiens zinc finger protein 777 (ZNF777), mRNA. 78 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding large_intestine(5)|lung(17)|ovary(1)|skin(2)|urinary_tract(1) 26 Melanoma(164;0.165) OV - Ovarian serous cystadenocarcinoma(82;0.00358) GAGTGAGGGTCCCTTCTGGAG 0.602000 43 74 0 0 1 0 0 PCDHB17 54661 broad.mit.edu 37 5 140535781 140535782 + Frame_Shift_Ins INS - - C TCGA-EL-A4KH-01A-11D-A257-08 TCGA-EL-A4KH-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f751da92-34f7-4f6b-93c8-1946d3e1e068 11398e17-c47c-4c24-852f-e642cf930718 g.chr5:140535781_140535782insC uc003lis.3 + 0 202_203 c.202_203insC c.(202-204)tccfs p.S68fs Homo sapiens protocadherin beta 17 pseudogene (PCDHB17), non-coding RNA. CCGGATTCTTTCCAAAGGGAAC 0.510 2 4 --- --- --- --- CACNA2D4 93589 broad.mit.edu 37 12 1993484 1993484 + Frame_Shift_Del DEL G G - TCGA-EL-A4KH-01A-11D-A257-08 TCGA-EL-A4KH-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f751da92-34f7-4f6b-93c8-1946d3e1e068 11398e17-c47c-4c24-852f-e642cf930718 g.chr12:1993484delG uc021qsx.1 - 11 1507 c.1276delC c.(1276-1278)cgafs p.R426fs CACNA2D4_uc009zds.2_Non-coding_Transcript|CACNA2D4_uc009zdt.1_Intron NM_172364 NP_758952 Q7Z3S7 CA2D4_HUMAN Homo sapiens calcium channel, voltage-dependent, alpha 2/delta subunit 4 (CACNA2D4), mRNA. 426 VWFA. integral to membrane calcium channel activity|metal ion binding|voltage-gated ion channel activity endometrium(3)|kidney(2)|large_intestine(1)|liver(1)|lung(27)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1) 39 Ovarian(42;0.107) Myeloproliferative disorder(1001;0.206) OV - Ovarian serous cystadenocarcinoma(31;0.00113) Kidney(2;0.0205)|KIRC - Kidney renal clear cell carcinoma(2;0.0451) GTGAAAACTCGGACCTAACCC 0.483 5 7 --- --- --- ---