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 DRD4 1815 broad.mit.edu 37 11 640585 640585 + Silent SNP C C T TCGA-DJ-A4UL-01A-11D-A257-08 TCGA-DJ-A4UL-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1f10660a-2465-42ed-a2a9-206fbf06bc3f 008c8709-0bc8-4d3c-8792-abc47b447fac g.chr11:640585C>T uc001lqp.2 + 3 1242 c.1242C>T c.(1240-1242)gcC>gcT p.A414A NM_000797 NP_000788 P21917 DRD4_HUMAN Homo sapiens dopamine receptor D4 (DRD4), mRNA. 462 activation of MAPK activity|adult locomotory behavior|arachidonic acid secretion|behavioral fear response|behavioral response to cocaine|behavioral response to ethanol|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of cAMP biosynthetic process|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of protein secretion|positive regulation of sodium:hydrogen antiporter activity|regulation of dopamine metabolic process|regulation of inhibitory postsynaptic membrane potential|response to amphetamine|response to histamine|social behavior integral to plasma membrane SH3 domain binding|dopamine D4 receptor activity|drug binding|potassium channel regulator activity NS(1)|lung(1)|skin(1)|upper_aerodigestive_tract(1) 4 all_cancers(49;1.69e-08)|all_epithelial(84;1.65e-05)|Breast(177;0.000231)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.106)|all_lung(207;0.136) all cancers(45;4.36e-28)|Epithelial(43;2.59e-27)|OV - Ovarian serous cystadenocarcinoma(40;3.53e-21)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0234)|LUSC - Lung squamous cell carcinoma(625;0.0703) Apomorphine(DB00714)|Clozapine(DB00363)|Olanzapine(DB00334)|Pramipexole(DB00413)|Promazine(DB00420)|Propiomazine(DB00777)|Ropinirole(DB00268)|Thiethylperazine(DB00372)|Ziprasidone(DB00246) TCCGCAAGGCCCTGCGTGCCT 0.657000 23 36 0 0 1 0 0 GOLGA3 2802 broad.mit.edu 37 12 133350748 133350748 + Missense_Mutation SNP C C G TCGA-DJ-A4UL-01A-11D-A257-08 TCGA-DJ-A4UL-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1f10660a-2465-42ed-a2a9-206fbf06bc3f 008c8709-0bc8-4d3c-8792-abc47b447fac g.chr12:133350748C>G uc001ukz.1 - 22 4861 c.4302G>C c.(4300-4302)caG>caC p.Q1434H GOLGA3_uc021rgt.1_Non-coding_Transcript NM_005895 NP_005886 Q08378 GOGA3_HUMAN Homo sapiens golgin A3 (GOLGA3), transcript variant 1, mRNA. 1434 intra-Golgi vesicle-mediated transport Golgi cisterna membrane|Golgi transport complex protein binding|transporter activity breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 64 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.0176)|Lung NSC(355;0.204) OV - Ovarian serous cystadenocarcinoma(86;2.27e-08)|Epithelial(86;3.34e-07)|all cancers(50;9.4e-06) CGTACTTGAGCTGCTGGAGGC 0.602000 20 34 0 0 1 0 0 DNAH9 1770 broad.mit.edu 37 17 11757449 11757449 + Missense_Mutation SNP G G A TCGA-DJ-A4UL-01A-11D-A257-08 TCGA-DJ-A4UL-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1f10660a-2465-42ed-a2a9-206fbf06bc3f 008c8709-0bc8-4d3c-8792-abc47b447fac g.chr17:11757449G>A uc002gne.3 + 49 9705 c.9637G>A c.(9637-9639)Gtc>Atc p.V3213I DNAH9_uc010coo.3_Missense_Mutation_p.V2507I NM_001372 NP_001363 Q9NYC9 DYH9_HUMAN Homo sapiens dynein, axonemal, heavy chain 9 (DNAH9), transcript variant 2, mRNA. 3213 Stalk (By similarity). cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity p.V3213V(1) NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4) 290 Breast(5;0.0122)|all_epithelial(5;0.131) Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157) GGCTGCTAAGGTCACCATGGC 0.562000 28 54 0 0 1 0 0 BRAF 673 broad.mit.edu 37 7 140453136 140453136 + Missense_Mutation SNP A A T rs121913377 TCGA-DJ-A4UL-01A-11D-A257-08 TCGA-DJ-A4UL-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1f10660a-2465-42ed-a2a9-206fbf06bc3f 008c8709-0bc8-4d3c-8792-abc47b447fac 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 25 47 0 0 1 0 0 GIMAP1-GIMAP5 100527949 broad.mit.edu 37 7 150417467 150417467 + Silent SNP C C T TCGA-DJ-A4UL-01A-11D-A257-08 TCGA-DJ-A4UL-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1f10660a-2465-42ed-a2a9-206fbf06bc3f 008c8709-0bc8-4d3c-8792-abc47b447fac g.chr7:150417467C>T uc022apw.1 + 2 515 c.375C>T c.(373-375)acC>acT p.T125T GIMAP1-GIMAP5_uc003whq.3_Silent_p.T125T NM_001199577 NP_001186506 Homo sapiens GIMAP1-GIMAP5 readthrough (GIMAP1-GIMAP5), mRNA. GTCGGTTCACCGCCCAGGACC 0.637000 20 38 0 0 1 0 0 MCCD1 401250 broad.mit.edu 37 6 31496941 31496941 + Silent SNP G G A TCGA-DJ-A4UL-01A-11D-A257-08 TCGA-DJ-A4UL-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1f10660a-2465-42ed-a2a9-206fbf06bc3f 008c8709-0bc8-4d3c-8792-abc47b447fac g.chr6:31496941G>A uc003ntp.1 + 0 203 c.150G>A c.(148-150)ggG>ggA p.G50G NM_001011700 NP_001011700 P59942 MCCD1_HUMAN Homo sapiens mitochondrial coiled-coil domain 1 (MCCD1), nuclear gene encoding mitochondrial protein, mRNA. 50 mitochondrion skin(1) 1 GAGGAAATGGGAAGATGACGT 0.562000 30 39 0 0 1 0 0 GLIS3 169792 broad.mit.edu 37 9 3937126 3937126 + Missense_Mutation SNP T T C TCGA-DJ-A4UL-01A-11D-A257-08 TCGA-DJ-A4UL-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1f10660a-2465-42ed-a2a9-206fbf06bc3f 008c8709-0bc8-4d3c-8792-abc47b447fac g.chr9:3937126T>C uc003zhx.1 - 4 2487 c.1774A>G c.(1774-1776)Aca>Gca p.T592A GLIS3_uc010mhf.1_5'UTR|GLIS3_uc003zhv.1_Non-coding_Transcript|GLIS3_uc003zhw.1_Missense_Mutation_p.T437A|GLIS3_uc003zhy.1_Missense_Mutation_p.T370A|GLIS3_uc003zhz.1_Missense_Mutation_p.T370A NM_001042413 NP_001035878 Q8NEA6 GLIS3_HUMAN Homo sapiens GLIS family zinc finger 3 (GLIS3), transcript variant 1, mRNA. 437 negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter DNA binding|zinc ion binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(12)|lung(4)|ovary(2)|prostate(1)|skin(1) 26 Acute lymphoblastic leukemia(2;0.00464)|Breast(48;0.148) Lung(2;0.00163)|GBM - Glioblastoma multiforme(50;0.00301)|LUSC - Lung squamous cell carcinoma(2;0.0148) TTCTCGCCTGTGTGGCTCCGC 0.507000 40 74 0 0 1 0 0 EVPL 2125 broad.mit.edu 37 17 74011029 74011029 + Silent SNP G G C TCGA-DJ-A4UL-01A-11D-A257-08 TCGA-DJ-A4UL-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1f10660a-2465-42ed-a2a9-206fbf06bc3f 008c8709-0bc8-4d3c-8792-abc47b447fac g.chr17:74011029G>C uc010wss.1 - 16 2484 c.2256C>G c.(2254-2256)cgC>cgG p.R752R EVPL_uc002jqi.2_Silent_p.R730R|EVPL_uc010wst.1_Silent_p.R200R NM_001988 NP_001979 Q92817 EVPL_HUMAN Homo sapiens envoplakin (EVPL), mRNA. 730 Globular 1. keratinization|peptide cross-linking cornified envelope|cytoplasm|desmosome protein binding, bridging|structural molecule activity breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4) 54 CGGCGTGGTAGCGGTCGGTGA 0.667000 12 21 0 0 1 0 0 OR4A47 403253 broad.mit.edu 37 11 48510460 48510460 + Missense_Mutation SNP G G A rs148277853 TCGA-DJ-A4UL-01A-11D-A257-08 TCGA-DJ-A4UL-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1f10660a-2465-42ed-a2a9-206fbf06bc3f 008c8709-0bc8-4d3c-8792-abc47b447fac g.chr11:48510460G>A uc010rhx.2 + 0 116 c.116G>A c.(115-117)gGc>gAc p.G39D NM_001005512 NP_001005512 Q6IF82 O4A47_HUMAN Homo sapiens olfactory receptor, family 4, subfamily A, member 47 (OR4A47), mRNA. 39 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(18)|ovary(1)|skin(1)|urinary_tract(2) 29 ACCATGGTGGGCAACCTGCTC 0.413000 22 24 0 0 1 0 0