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 NAT10 55226 broad.mit.edu 37 11 34149080 34149080 + Missense_Mutation SNP T T C TCGA-FY-A3I4-01A-11D-A21A-08 TCGA-FY-A3I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e087d096-3086-4705-a308-75f12f9487eb a40b24b5-781b-44cf-9d3c-499ddd16136e g.chr11:34149080T>C uc001mvk.3 + 11 1422 c.1178T>C c.(1177-1179)aTc>aCc p.I393T NAT10_uc010ren.2_Missense_Mutation_p.I321T NM_024662 NP_078938 Q9H0A0 NAT10_HUMAN Homo sapiens N-acetyltransferase 10 (GCN5-related) (NAT10), transcript variant 1, mRNA. 393 nucleolus ATP binding|N-acetyltransferase activity|protein binding endometrium(4)|large_intestine(8)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 23 Acute lymphoblastic leukemia(5;0.0119)|all_hematologic(20;0.0231) GCTGCCGCCATCCCCCTCCCC 0.502000 4 177 0 0 1 0 0 SMARCA1 6594 broad.mit.edu 37 X 128649760 128649760 + Silent SNP C C G TCGA-FY-A3I4-01A-11D-A21A-08 TCGA-FY-A3I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e087d096-3086-4705-a308-75f12f9487eb a40b24b5-781b-44cf-9d3c-499ddd16136e g.chrX:128649760C>G uc011muk.1 - 4 647 c.534G>C c.(532-534)gtG>gtC p.V178V SMARCA1_uc004eun.4_Silent_p.V178V|SMARCA1_uc004eup.4_Silent_p.V178V|SMARCA1_uc011mul.1_Silent_p.V178V|SNORD112_uc022cdt.1_5'Flank NM_003069 NP_003060 P28370 SMCA1_HUMAN Homo sapiens SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 1 (SMARCA1), transcript variant 1, mRNA. 178 ATP-dependent chromatin remodeling|brain development|neuron differentiation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent NURF complex ATP binding|DNA binding|helicase activity|nucleosome binding|protein binding biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(13)|ovary(5)|prostate(1)|skin(1) 45 GCCCCCCTTTCACATCTGGTG 0.343000 15 66 0 0 1 0 0 ZNF92 168374 broad.mit.edu 37 7 64853813 64853813 + Splice_Site SNP A A G TCGA-FY-A3I4-01A-11D-A21A-08 TCGA-FY-A3I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e087d096-3086-4705-a308-75f12f9487eb a40b24b5-781b-44cf-9d3c-499ddd16136e g.chr7:64853813A>G uc003ttz.3 + 3 369 c.226_splice c.e3+1 p.V76_splice ZNF92_uc003tua.3_Splice_Site_p.V7_splice|ZNF92_uc010kzu.3_Intron|ZNF92_uc003tub.3_Intron NM_152626 NP_009070 Q03936 ZNF92_HUMAN Homo sapiens zinc finger protein 92 (ZNF92), transcript variant 2, mRNA. 76 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(2)|endometrium(1)|large_intestine(3)|lung(4)|pancreas(1)|skin(1)|stomach(1) 13 Lung NSC(55;0.159) ACAAAACCCCAGGTAGGTGAC 0.448000 3 73 0 0 1 0 0 HGFAC 3083 broad.mit.edu 37 4 3443797 3443797 + Silent SNP C C G TCGA-FY-A3I4-01A-11D-A21A-08 TCGA-FY-A3I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e087d096-3086-4705-a308-75f12f9487eb a40b24b5-781b-44cf-9d3c-499ddd16136e g.chr4:3443797C>G uc010icw.3 + 0 72 c.69C>G c.(67-69)ctC>ctG p.L23L HGFAC_uc003ghc.3_Silent_p.L23L NM_001528 NP_001519 Q04756 HGFA_HUMAN Homo sapiens HGF activator (HGFAC), mRNA. 23 proteolysis extracellular space protein binding|serine-type endopeptidase activity central_nervous_system(3)|cervix(1)|endometrium(4)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(2)|urinary_tract(2) 22 UCEC - Uterine corpus endometrioid carcinoma (64;0.163) TCCTCCTCCTCCTGCTGCTGC 0.716000 3 38 0 0 1 0 0 BRAF 673 broad.mit.edu 37 7 140453136 140453136 + Missense_Mutation SNP A A T rs121913377 TCGA-FY-A3I4-01A-11D-A21A-08 TCGA-FY-A3I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e087d096-3086-4705-a308-75f12f9487eb a40b24b5-781b-44cf-9d3c-499ddd16136e 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 15 61 0 0 1 0 0 ZNF578 147660 broad.mit.edu 37 19 53014631 53014631 + Missense_Mutation SNP C C G TCGA-FY-A3I4-01A-11D-A21A-08 TCGA-FY-A3I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e087d096-3086-4705-a308-75f12f9487eb a40b24b5-781b-44cf-9d3c-499ddd16136e g.chr19:53014631C>G uc002pzp.4 + 5 1241 c.997C>G c.(997-999)Cat>Gat p.H333D NM_001099694 NP_001093164 Q96N58 ZN578_HUMAN Homo sapiens zinc finger protein 578 (ZNF578), mRNA. 108 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding GBM - Glioblastoma multiforme(134;0.00819)|OV - Ovarian serous cystadenocarcinoma(262;0.01) CCTTACATGCCATCATAGGTG 0.428000 20 94 0 0 1 0 0 CASC3 22794 broad.mit.edu 37 17 38318284 38318284 + Silent SNP G G A TCGA-FY-A3I4-01A-11D-A21A-08 TCGA-FY-A3I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e087d096-3086-4705-a308-75f12f9487eb a40b24b5-781b-44cf-9d3c-499ddd16136e g.chr17:38318284G>A uc010cwt.1 + 4 781 c.486G>A c.(484-486)gtG>gtA p.V162V CASC3_uc010cws.1_Silent_p.V162V|CASC3_uc002hue.3_Silent_p.V162V NM_007359 NP_031385 O15234 CASC3_HUMAN Homo sapiens cancer susceptibility candidate 3 (CASC3), mRNA. 162 Necessary for RNA-binding, interaction with MAGOH and localization in nucleus speckles.|Sufficient to form the EJC. RNA splicing|mRNA processing|mRNA transport|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translation|response to stress exon-exon junction complex|nuclear speck|perinuclear region of cytoplasm RNA binding|identical protein binding|ubiquitin protein ligase binding p.V162V(2) endometrium(4)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|urinary_tract(2) 16 AGAACAAAGTGGGTAAAAAGG 0.468000 7 40 0 0 1 0 0 NUP214 8021 broad.mit.edu 37 9 134072930 134072930 + Missense_Mutation SNP A A G TCGA-FY-A3I4-01A-11D-A21A-08 TCGA-FY-A3I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e087d096-3086-4705-a308-75f12f9487eb a40b24b5-781b-44cf-9d3c-499ddd16136e g.chr9:134072930A>G uc004cag.3 + 28 4160 c.4049A>G c.(4048-4050)aAt>aGt p.N1350S NUP214_uc004cah.3_Missense_Mutation_p.N1340S|NUP214_uc004cai.3_Missense_Mutation_p.N780S|NUP214_uc010mzg.3_Non-coding_Transcript|NUP214_uc011mcg.2_Missense_Mutation_p.N176S|NUP214_uc011mcf.1_Missense_Mutation_p.N127S|NUP214_uc010mzh.1_5'UTR|NUP214_uc010mzi.1_5'UTR NM_005085 NP_005076 P35658 NU214_HUMAN Homo sapiens nucleoporin 214kDa (NUP214), mRNA. 1350 11 X 5 AA approximate repeats.|Pro/Ser/Thr-rich. carbohydrate metabolic process|glucose transport|mRNA metabolic process|protein export from nucleus|regulation of glucose transport|transmembrane transport|viral reproduction cytosol|nuclear pore|nucleoplasm protein binding NS(1)|breast(9)|central_nervous_system(3)|endometrium(13)|kidney(2)|large_intestine(9)|liver(2)|lung(29)|ovary(2)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 86 all_hematologic(7;0.0028) Myeloproliferative disorder(178;0.204) OV - Ovarian serous cystadenocarcinoma(145;3.42e-05)|Epithelial(140;0.000256) AAACCAACCAATAAGGCTTCA 0.512000 T """DEK, SET, ABL1""" """AML, T-ALL""" 13 103 0 0 1 0 0 APOOL 139322 broad.mit.edu 37 X 84322155 84322155 + Frame_Shift_Del DEL T T - TCGA-FY-A3I4-01A-11D-A21A-08 TCGA-FY-A3I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e087d096-3086-4705-a308-75f12f9487eb a40b24b5-781b-44cf-9d3c-499ddd16136e g.chrX:84322155delT uc004eem.3 + 5 438 c.417delT c.(415-417)actfs p.T139fs APOOL_uc010nmp.3_Intron NM_198450 NP_940852 Q6UXV4 APOOL_HUMAN Homo sapiens apolipoprotein O-like (APOOL), mRNA. 139 extracellular region central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(4)|prostate(1) 8 AGAAAATTACTTATCCTCTGG 0.333 2 4 --- --- --- ---