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 MSLN 10232 broad.mit.edu 37 16 818804 818804 + Silent SNP C C T TCGA-KS-A41J-01A-11D-A23M-08 TCGA-KS-A41J-11A-12D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60ea1d62-50d2-46ef-9e5a-109f17f8d2c7 49151a1b-2cdc-468e-9059-f5ac5c4330fe g.chr16:818804C>T uc002cjy.1 + 5 1127 c.1017C>T c.(1015-1017)gtC>gtT p.V339V MSLN_uc002cju.1_3'UTR|MSLN_uc002cjt.1_3'UTR|MSLN_uc010brd.1_3'UTR|MSLN_uc002cjw.2_3'UTR|MIR662_uc021tac.1_5'Flank Q13421 MSLN_HUMAN Homo sapiens mesothelin (MSLN), transcript variant 3, mRNA. 268 cell adhesion Golgi apparatus|anchored to membrane|extracellular region|plasma membrane breast(2)|kidney(2)|lung(11)|pancreas(1)|prostate(1)|skin(3) 20 Hepatocellular(780;0.00335) CACGGGTGGTCCCCGTTCCAC 0.672000 3 13 0 0 1 0 0 OR5T2 219464 broad.mit.edu 37 11 56000210 56000210 + Missense_Mutation SNP C C T TCGA-KS-A41J-01A-11D-A23M-08 TCGA-KS-A41J-11A-12D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60ea1d62-50d2-46ef-9e5a-109f17f8d2c7 49151a1b-2cdc-468e-9059-f5ac5c4330fe g.chr11:56000210C>T uc010rjc.2 - 0 452 c.452G>A c.(451-453)tGc>tAc p.C151Y NM_001004746 NP_001004746 Q8NGG2 OR5T2_HUMAN Homo sapiens olfactory receptor, family 5, subfamily T, member 2 (OR5T2), mRNA. 151 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(6)|kidney(1)|large_intestine(5)|lung(22)|ovary(2)|prostate(1)|skin(1)|stomach(3) 41 Esophageal squamous(21;0.00448) CAAGAGAAAGCATTCTGTGGT 0.418000 59 85 0 0 1 0 0 ATP6V1B1 525 broad.mit.edu 37 2 71187160 71187160 + Silent SNP C C T TCGA-KS-A41J-01A-11D-A23M-08 TCGA-KS-A41J-11A-12D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60ea1d62-50d2-46ef-9e5a-109f17f8d2c7 49151a1b-2cdc-468e-9059-f5ac5c4330fe g.chr2:71187160C>T uc002shj.3 + 5 624 c.537C>T c.(535-537)cgC>cgT p.R179R ATP6V1B1_uc002shi.1_Silent_p.R179R|ATP6V1B1_uc010fdx.3_Silent_p.R137R NM_001692 NP_001683 P15313 VATB1_HUMAN Homo sapiens ATPase, H+ transporting, lysosomal 56/58kDa, V1 subunit B1 (ATP6V1B1), mRNA. 179 ATP hydrolysis coupled proton transport|calcium ion homeostasis|cellular iron ion homeostasis|excretion|inner ear morphogenesis|insulin receptor signaling pathway|ossification|pH reduction|sensory perception of sound|transferrin transport apical plasma membrane|basolateral plasma membrane|cytosol|endomembrane system|lateral plasma membrane|microvillus|proton-transporting V-type ATPase, V1 domain|vacuolar proton-transporting V-type ATPase complex ATP binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism p.R179R(2) endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(5)|prostate(1)|skin(1) 19 GCATTGCCCGCGGCCAGAAGA 0.627000 27 55 0 0 1 0 0 PRR5-ARHGAP8 553158 broad.mit.edu 37 22 45244819 45244819 + Silent SNP C C T TCGA-KS-A41J-01A-11D-A23M-08 TCGA-KS-A41J-11A-12D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60ea1d62-50d2-46ef-9e5a-109f17f8d2c7 49151a1b-2cdc-468e-9059-f5ac5c4330fe g.chr22:45244819C>T uc003bfd.3 + 14 1663 c.1386C>T c.(1384-1386)ccC>ccT p.P462P PRR5-ARHGAP8_uc011aqi.2_Silent_p.P374P|PRR5-ARHGAP8_uc011aqj.2_Silent_p.P288P|PRR5-ARHGAP8_uc003bfi.3_Silent_p.P252P|PRR5-ARHGAP8_uc010gzv.3_Silent_p.P252P|PRR5-ARHGAP8_uc003bfj.3_Silent_p.P283P|PRR5-ARHGAP8_uc003bfk.3_Silent_p.P252P|PRR5-ARHGAP8_uc003bfl.3_Non-coding_Transcript NM_181335 NP_851852 Homo sapiens Rho GTPase activating protein 8 (ARHGAP8), transcript variant 2, mRNA. breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(10)|prostate(1)|skin(8) 30 CAGGGAAGCCCGTGAACTTTG 0.617000 66 97 0 0 1 0 0 BRAF 673 broad.mit.edu 37 7 140453136 140453136 + Missense_Mutation SNP A A T rs121913377 TCGA-KS-A41J-01A-11D-A23M-08 TCGA-KS-A41J-11A-12D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60ea1d62-50d2-46ef-9e5a-109f17f8d2c7 49151a1b-2cdc-468e-9059-f5ac5c4330fe 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 35 42 0 0 1 0 0 ZFP36L2 678 broad.mit.edu 37 2 43452123 43452123 + Missense_Mutation SNP G G A TCGA-KS-A41J-01A-11D-A23M-08 TCGA-KS-A41J-11A-12D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60ea1d62-50d2-46ef-9e5a-109f17f8d2c7 49151a1b-2cdc-468e-9059-f5ac5c4330fe g.chr2:43452123G>A uc002rsv.4 - 1 1111 c.820C>T c.(820-822)Ctc>Ttc p.L274F LOC100129726_uc010ynx.1_5'Flank NM_006887 NP_008818 P47974 TISD_HUMAN Homo sapiens zinc finger protein 36, C3H type-like 2 (ZFP36L2), mRNA. 274 cell proliferation nucleus DNA binding|RNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1) 15 Acute lymphoblastic leukemia(82;0.00323)|all_hematologic(82;0.00824) GGCGACTCGAGGCCGCCCGGG 0.731000 26 17 0 0 1 0 0 HDAC10 83933 broad.mit.edu 37 22 50686833 50686833 + Silent SNP C C T TCGA-KS-A41J-01A-11D-A23M-08 TCGA-KS-A41J-11A-12D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60ea1d62-50d2-46ef-9e5a-109f17f8d2c7 49151a1b-2cdc-468e-9059-f5ac5c4330fe g.chr22:50686833C>T uc003bkg.3 - 10 1348 c.975G>A c.(973-975)ccG>ccA p.P325P HDAC10_uc010hav.3_Silent_p.P305P|HDAC10_uc003bkh.3_Intron|HDAC10_uc003bkj.3_Non-coding_Transcript|HDAC10_uc003bkk.1_5'UTR NM_032019 NP_114408 Q969S8 HDA10_HUMAN Homo sapiens histone deacetylase 10 (HDAC10), transcript variant 1, mRNA. 325 negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent cytoplasm|histone deacetylase complex|nucleus NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|histone deacetylase activity|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding endometrium(2)|kidney(2)|lung(1)|prostate(1)|skin(1)|urinary_tract(1) 8 all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113) BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247) GGGGTGGGGCCGGGTCACCCA 0.657000 8 52 0 0 1 0 0