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-DJ-A2PS-01A-11D-A18F-08 TCGA-DJ-A2PS-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96c450fe-4e43-43b3-9adc-6549c6fff902 dd8e6cf7-7163-4b83-a429-6f19ce5690b3 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 18 56 0 0 1 0 0 NUDT5 11164 broad.mit.edu 37 10 12215790 12215790 + Silent SNP G G A TCGA-DJ-A2PS-01A-11D-A18F-08 TCGA-DJ-A2PS-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96c450fe-4e43-43b3-9adc-6549c6fff902 dd8e6cf7-7163-4b83-a429-6f19ce5690b3 g.chr10:12215790G>A uc001ilj.3 - 5 728 c.312C>T c.(310-312)acC>acT p.T104T NM_014142 NP_054861 Q9UKK9 NUDT5_HUMAN Homo sapiens nudix (nucleoside diphosphate linked moiety X)-type motif 5 (NUDT5), mRNA. 104 Nudix hydrolase. D-ribose catabolic process|ribonucleoside diphosphate catabolic process intracellular ADP-ribose diphosphatase activity|magnesium ion binding p.E103K(1) breast(1)|large_intestine(1)|lung(4)|ovary(1)|pancreas(1) 8 Renal(717;0.228) CTGCTTCTGGGGTTTCACCAT 0.458000 73 148 0 0 1 0 0 TSPAN4 7106 broad.mit.edu 37 11 865530 865530 + Silent SNP G G A TCGA-DJ-A2PS-01A-11D-A18F-08 TCGA-DJ-A2PS-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96c450fe-4e43-43b3-9adc-6549c6fff902 dd8e6cf7-7163-4b83-a429-6f19ce5690b3 g.chr11:865530G>A uc001lsd.1 + 5 557 c.348G>A c.(346-348)caG>caA p.Q116Q TSPAN4_uc001lse.1_Silent_p.Q52Q|TSPAN4_uc001lsf.1_Silent_p.Q116Q|TSPAN4_uc001lsg.1_Silent_p.Q116Q|TSPAN4_uc001lsh.1_Silent_p.Q116Q|TSPAN4_uc001lsi.1_Silent_p.Q116Q|TSPAN4_uc001lsj.1_Silent_p.Q116Q NM_003271 NP_001020410 O14817 TSN4_HUMAN Homo sapiens tetraspanin 4 (TSPAN4), transcript variant 5, mRNA. 116 protein complex assembly integral to plasma membrane breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1) 3 all_cancers(49;2.64e-08)|all_epithelial(84;4.17e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)|all_lung(207;0.24) all cancers(45;4.32e-25)|Epithelial(43;3.29e-24)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703) GGTATGCCCAGCAAGACCTGA 0.667000 3 27 0 0 1 0 0 ARAP1 116985 broad.mit.edu 37 11 72406076 72406076 + Missense_Mutation SNP T T C TCGA-DJ-A2PS-01A-11D-A18F-08 TCGA-DJ-A2PS-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96c450fe-4e43-43b3-9adc-6549c6fff902 dd8e6cf7-7163-4b83-a429-6f19ce5690b3 g.chr11:72406076T>C uc001osu.3 - 26 3832 c.3643A>G c.(3643-3645)Agg>Ggg p.R1215G ARAP1_uc001osv.3_Missense_Mutation_p.R1215G|ARAP1_uc001osr.3_Missense_Mutation_p.R975G|ARAP1_uc001oss.3_Missense_Mutation_p.R970G|ARAP1_uc009yth.3_Missense_Mutation_p.R909G|ARAP1_uc010rre.2_Missense_Mutation_p.R970G NM_001040118 NP_056057 Q96P48 ARAP1_HUMAN Homo sapiens ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 1 (ARAP1), transcript variant 3, mRNA. 1215 Ras-associating. actin filament reorganization involved in cell cycle|negative regulation of stress fiber assembly|positive regulation of Cdc42 GTPase activity|positive regulation of filopodium assembly|regulation of ARF GTPase activity|regulation of cell shape|regulation of cellular component movement|small GTPase mediated signal transduction Golgi cisterna membrane|cytosol|plasma membrane ARF GTPase activator activity|Rho GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|protein binding|zinc ion binding p.R975G(1)|p.R1215G(1) cervix(2)|endometrium(2)|large_intestine(10)|lung(8)|ovary(1)|skin(3)|urinary_tract(1) 27 TCCTTCTCCCTGATGCCCACG 0.587000 3 31 0 0 1 0 0 DENND4C 55667 broad.mit.edu 37 9 19360258 19360258 + Missense_Mutation SNP G G A TCGA-DJ-A2PS-01A-11D-A18F-08 TCGA-DJ-A2PS-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96c450fe-4e43-43b3-9adc-6549c6fff902 dd8e6cf7-7163-4b83-a429-6f19ce5690b3 g.chr9:19360258G>A uc003znq.3 + 23 4402 c.4322G>A c.(4321-4323)aGa>aAa p.R1441K DENND4C_uc011lnc.2_Missense_Mutation_p.R771K|DENND4C_uc011lnd.2_Missense_Mutation_p.R729K|DENND4C_uc003znr.3_Missense_Mutation_p.R729K|DENND4C_uc003zns.3_Missense_Mutation_p.R623K NM_017925 NP_060395 Q5VZ89 DEN4C_HUMAN Homo sapiens DENN/MADD domain containing 4C (DENND4C), mRNA. 1441 integral to membrane breast(1)|endometrium(8)|kidney(1)|large_intestine(7)|liver(2)|lung(13)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 40 TTAGGAAAAAGACCCAATCCT 0.363000 5 149 0 0 1 0 0