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 RTN2 6253 broad.mit.edu 37 19 45998115 45998115 + Silent SNP C C G TCGA-E8-A44K-01A-21D-A23U-08 TCGA-E8-A44K-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ef64fb76-079f-40df-a19c-b375a8f4e4ac c2bc89b8-c987-4cc1-a5a4-96e21ee64399 g.chr19:45998115C>G uc002pcb.3 - 2 458 c.228G>C c.(226-228)ggG>ggC p.G76G RTN2_uc002pcc.3_Silent_p.G76G|RTN2_uc002pcd.3_Non-coding_Transcript NM_005619 NP_005610 O75298 RTN2_HUMAN Homo sapiens reticulon 2 (RTN2), transcript variant 1, mRNA. 76 integral to endoplasmic reticulum membrane signal transducer activity cervix(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(4)|skin(1)|urinary_tract(1) 20 Ovarian(192;0.051)|all_neural(266;0.112) OV - Ovarian serous cystadenocarcinoma(262;0.00829)|Epithelial(262;0.184)|GBM - Glioblastoma multiforme(486;0.246) CCCTGCGGCCCCCGGAGCCCA 0.687000 13 20 0 0 1 0 0 BNC2 54796 broad.mit.edu 37 9 16435992 16435992 + Missense_Mutation SNP C C A TCGA-E8-A44K-01A-21D-A23U-08 TCGA-E8-A44K-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ef64fb76-079f-40df-a19c-b375a8f4e4ac c2bc89b8-c987-4cc1-a5a4-96e21ee64399 g.chr9:16435992C>A uc003zml.3 - 5 2340 c.2200G>T c.(2200-2202)Ggc>Tgc p.G734C BNC2_uc011lmw.2_Missense_Mutation_p.G639C|BNC2_uc003zmm.3_Missense_Mutation_p.G692C|BNC2_uc003zmq.1_Missense_Mutation_p.G748C|BNC2_uc003zmr.1_Missense_Mutation_p.G771C|BNC2_uc003zmp.1_Missense_Mutation_p.G762C|BNC2_uc010mij.1_Missense_Mutation_p.G656C|BNC2_uc011lmv.2_Missense_Mutation_p.G560C|BNC2_uc003zmo.1_Missense_Mutation_p.G656C|BNC2_uc003zmj.3_Missense_Mutation_p.G499C|BNC2_uc003zmk.3_Non-coding_Transcript|BNC2_uc003zmi.3_Missense_Mutation_p.G499C|BNC2_uc003zmn.1_Missense_Mutation_p.G499C NM_017637 NP_060107 Q6ZN30 BNC2_HUMAN Homo sapiens basonuclin 2 (BNC2), mRNA. 734 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus|plasma membrane zinc ion binding NS(2)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(16)|liver(1)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2) 60 GBM - Glioblastoma multiforme(50;9.01e-08) GATTCCTCGCCCAGTTTGGGC 0.512000 7 44 0 0 1 0 0 HSF5 124535 broad.mit.edu 37 17 56557351 56557351 + Silent SNP T T C TCGA-E8-A44K-01A-21D-A23U-08 TCGA-E8-A44K-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ef64fb76-079f-40df-a19c-b375a8f4e4ac c2bc89b8-c987-4cc1-a5a4-96e21ee64399 g.chr17:56557351T>C uc002iwi.1 - 1 952 c.828A>G c.(826-828)gtA>gtG p.V276V NM_001080439 NP_001073908 Q4G112 HSF5_HUMAN Homo sapiens heat shock transcription factor family member 5 (HSF5), mRNA. 276 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity p.S275Y(1) endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|ovary(3)|skin(1) 16 Medulloblastoma(34;0.127)|all_neural(34;0.237) GTTGAACATGTACAGATGTGG 0.468000 37 60 0 0 1 0 0 ZNF580 51157 broad.mit.edu 37 19 56153895 56153895 + Silent SNP G G A TCGA-E8-A44K-01A-21D-A23U-08 TCGA-E8-A44K-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ef64fb76-079f-40df-a19c-b375a8f4e4ac c2bc89b8-c987-4cc1-a5a4-96e21ee64399 g.chr19:56153895G>A uc002qlo.3 + 1 191 c.21G>A c.(19-21)cgG>cgA p.R7R ZNF581_uc002qln.3_Intron|ZNF580_uc002qlp.3_Silent_p.R7R|ZNF580_uc010ygd.2_Silent_p.R7R|ZNF581_uc002qlq.3_5'Flank|ZNF581_uc021vcb.1_5'Flank NM_207115 NP_996998 Q9UK33 ZN580_HUMAN Homo sapiens zinc finger protein 580 (ZNF580), transcript variant 2, mRNA. 7 Pro-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding lung(1)|upper_aerodigestive_tract(1) 2 BRCA - Breast invasive adenocarcinoma(297;0.18) GBM - Glioblastoma multiforme(193;0.105) TGCCGCCGCGGCCACCCCACC 0.627000 3 17 0 0 1 0 0 TRIOBP 11078 broad.mit.edu 37 22 38120673 38120673 + Missense_Mutation SNP G G A TCGA-E8-A44K-01A-21D-A23U-08 TCGA-E8-A44K-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ef64fb76-079f-40df-a19c-b375a8f4e4ac c2bc89b8-c987-4cc1-a5a4-96e21ee64399 g.chr22:38120673G>A uc003atr.3 + 6 2381 c.2110G>A c.(2110-2112)Gac>Aac p.D704N TRIOBP_uc003atu.3_Missense_Mutation_p.D532N|TRIOBP_uc003atq.1_Missense_Mutation_p.D704N|TRIOBP_uc003ats.1_Missense_Mutation_p.D532N NM_001039141 NP_001034230 Q9H2D6 TARA_HUMAN Homo sapiens TRIO and F-actin binding protein (TRIOBP), transcript variant 6, mRNA. 704 actin modification|barbed-end actin filament capping actin cytoskeleton|cytoplasm|nucleus GTP-Rho binding|actin binding|myosin II binding|protein binding|ubiquitin protein ligase binding central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 12 Melanoma(58;0.0574) TGCCCAACGGGACGATCCCAG 0.582000 13 48 0 0 1 0 0 GNPAT 8443 broad.mit.edu 37 1 231411174 231411174 + Missense_Mutation SNP T T A TCGA-E8-A44K-01A-21D-A23U-08 TCGA-E8-A44K-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ef64fb76-079f-40df-a19c-b375a8f4e4ac c2bc89b8-c987-4cc1-a5a4-96e21ee64399 g.chr1:231411174T>A uc001hup.4 + 13 2073 c.1867T>A c.(1867-1869)Tta>Ata p.L623I GNPAT_uc009xfp.3_Missense_Mutation_p.L562I NM_014236 NP_055051 O15228 GNPAT_HUMAN Homo sapiens glyceronephosphate O-acyltransferase (GNPAT), mRNA. 623 ether lipid biosynthetic process|fatty acid metabolic process|organ morphogenesis peroxisomal matrix|peroxisomal membrane glycerone-phosphate O-acyltransferase activity p.L623V(2) breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|prostate(1)|skin(1) 23 Breast(184;0.0871) all_cancers(173;0.2)|Prostate(94;0.183) TTATGATGTATTATCTTCTGA 0.428000 4 61 0 0 1 0 0 BRAF 673 broad.mit.edu 37 7 140453136 140453136 + Missense_Mutation SNP A A T rs121913377 TCGA-E8-A44K-01A-21D-A23U-08 TCGA-E8-A44K-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ef64fb76-079f-40df-a19c-b375a8f4e4ac c2bc89b8-c987-4cc1-a5a4-96e21ee64399 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 21 42 0 0 1 0 0 DISP1 84976 broad.mit.edu 37 1 223176363 223176363 + Missense_Mutation SNP T T G TCGA-E8-A44K-01A-21D-A23U-08 TCGA-E8-A44K-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ef64fb76-079f-40df-a19c-b375a8f4e4ac c2bc89b8-c987-4cc1-a5a4-96e21ee64399 g.chr1:223176363T>G uc001hnu.2 + 9 1950 c.1624T>G c.(1624-1626)Tcc>Gcc p.S542A NM_032890 NP_116279 Q96F81 DISP1_HUMAN Homo sapiens dispatched homolog 1 (Drosophila) (DISP1), mRNA. 542 SSD. diaphragm development|protein homotrimerization|regulation of protein secretion|smoothened signaling pathway basolateral plasma membrane|integral to membrane hedgehog receptor activity|peptide transporter activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(20)|lung(25)|prostate(4)|skin(1)|stomach(1)|urinary_tract(5) 69 GBM - Glioblastoma multiforme(131;0.102) TTTGATTGTTTCCTATTTTCT 0.353000 21 43 0 0 1 0 0 DEAF1 10522 broad.mit.edu 37 11 694809 694809 + Missense_Mutation SNP G G C TCGA-E8-A44K-01A-21D-A23U-08 TCGA-E8-A44K-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ef64fb76-079f-40df-a19c-b375a8f4e4ac c2bc89b8-c987-4cc1-a5a4-96e21ee64399 g.chr11:694809G>C uc001lqq.1 - 0 932 c.239C>G c.(238-240)gCc>gGc p.A80G DEAF1_uc021qbn.1_Missense_Mutation_p.A80G|TMEM80_uc001lqr.3_5'Flank|TMEM80_uc001lqs.3_5'Flank|TMEM80_uc010qwi.1_5'Flank NM_021008 NP_066288 O75398 DEAF1_HUMAN Homo sapiens deformed epidermal autoregulatory factor 1 (Drosophila) (DEAF1), mRNA. 80 Ala-rich. embryonic skeletal system development|germ cell development|neural tube closure|regulation of mammary gland epithelial cell proliferation|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter cytoplasm|extracellular region|nucleus protein binding|zinc ion binding breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(11)|prostate(2)|upper_aerodigestive_tract(1) 24 all_cancers(49;1.24e-08)|all_epithelial(84;1.87e-05)|Breast(177;0.000286)|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;1.76e-27)|Epithelial(43;8.42e-27)|OV - Ovarian serous cystadenocarcinoma(40;6.55e-21)|BRCA - Breast invasive adenocarcinoma(625;4.83e-05)|Lung(200;0.0259)|LUSC - Lung squamous cell carcinoma(625;0.075) CAGGGCCTCGGCGCCCATGTC 0.771000 4 1 0 0 1 0 0 ADCK2 90956 broad.mit.edu 37 7 140394532 140394532 + Silent SNP C C T TCGA-E8-A44K-01A-21D-A23U-08 TCGA-E8-A44K-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ef64fb76-079f-40df-a19c-b375a8f4e4ac c2bc89b8-c987-4cc1-a5a4-96e21ee64399 g.chr7:140394532C>T uc003vvy.1 + 7 1988 c.1810C>T c.(1810-1812)Ctg>Ttg p.L604L ADCK2_uc003vvz.3_Intron|NDUFB2_uc003vwa.3_5'Flank|NDUFB2_uc010lnl.3_5'Flank NM_052853 NP_443085 Q7Z695 ADCK2_HUMAN Homo sapiens aarF domain containing kinase 2 (ADCK2), mRNA. 604 Protein kinase. integral to membrane ATP binding|protein serine/threonine kinase activity cervix(1)|kidney(2)|large_intestine(2)|lung(5)|prostate(1)|skin(4) 15 Melanoma(164;0.00956) TGGCCGCTCACTGGACCCCAA 0.582000 19 44 0 0 1 0 0 FANCG 2189 broad.mit.edu 37 9 35079179 35079179 + Frame_Shift_Del DEL T T - TCGA-E8-A44K-01A-21D-A23U-08 TCGA-E8-A44K-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ef64fb76-079f-40df-a19c-b375a8f4e4ac c2bc89b8-c987-4cc1-a5a4-96e21ee64399 g.chr9:35079179delT uc003zwb.1 - 1 636 c.144delA c.(142-144)gaafs p.E48fs FANCG_uc010mkj.1_5'UTR|FANCG_uc011lot.1_Frame_Shift_Del_p.E48fs NM_004629 NP_004620 O15287 FANCG_HUMAN Homo sapiens Fanconi anemia, complementation group G (FANCG), mRNA. 48 DNA repair|cell cycle checkpoint|mitochondrion organization mitochondrion|nucleoplasm damaged DNA binding|protein binding NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(7)|ovary(2)|prostate(3)|stomach(1) 28 LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778) CTCTGAGCCCTTCCAGTGCAT 0.582 """Mis, N, F, S""" """AML, leukemia""" Involved in tolerance or repair of DNA crosslinks 2 4 --- --- --- ---