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 COL6A6 131873 broad.mit.edu 37 3 130284243 130284243 + Missense_Mutation SNP G G A TCGA-EL-A4K4-01A-11D-A257-08 TCGA-EL-A4K4-11A-21D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23d4113a-f9a3-4581-a160-6074c4ef4dfe 4a0d57bd-9de2-4474-b547-f24b85e050d1 g.chr3:130284243G>A uc010htl.3 + 2 1098 c.1067G>A c.(1066-1068)cGa>cAa p.R356Q NM_001102608 NP_001096078 A6NMZ7 CO6A6_HUMAN Homo sapiens collagen, type VI, alpha 6 (COL6A6), mRNA. 356 Nonhelical region.|VWFA 2. axon guidance|cell adhesion collagen NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 134 GTTAACCTCCGACGGGAGGGT 0.567000 56 66 0 0 1 0 0 ITCH 83737 broad.mit.edu 37 20 33057876 33057876 + Missense_Mutation SNP A A G TCGA-EL-A4K4-01A-11D-A257-08 TCGA-EL-A4K4-11A-21D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23d4113a-f9a3-4581-a160-6074c4ef4dfe 4a0d57bd-9de2-4474-b547-f24b85e050d1 g.chr20:33057876A>G uc010geu.1 + 15 1763 c.1571A>G c.(1570-1572)tAt>tGt p.Y524C ITCH_uc002xak.2_Missense_Mutation_p.Y483C|ITCH_uc010zuj.1_Missense_Mutation_p.Y373C NM_031483 NP_113671 Q96J02 ITCH_HUMAN Homo sapiens itchy E3 ubiquitin protein ligase homolog (mouse) (ITCH), mRNA. 524 apoptosis|entry of virus into host cell|inflammatory response|innate immune response|negative regulation of JNK cascade|negative regulation of NF-kappaB transcription factor activity|negative regulation of apoptosis|negative regulation of defense response to virus|negative regulation of type I interferon production|protein K29-linked ubiquitination|protein K48-linked ubiquitination|protein K63-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of cell growth|regulation of protein deubiquitination|response to virus cytosol|nucleus|plasma membrane CXCR chemokine receptor binding|ribonucleoprotein binding|ubiquitin-protein ligase activity NS(1)|breast(9)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(13)|skin(1)|upper_aerodigestive_tract(1) 36 CAGATAGCCTATGTTCGGGAC 0.408000 49 103 0 0 1 0 0 EMILIN3 90187 broad.mit.edu 37 20 39991087 39991087 + Silent SNP C C T TCGA-EL-A4K4-01A-11D-A257-08 TCGA-EL-A4K4-11A-21D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23d4113a-f9a3-4581-a160-6074c4ef4dfe 4a0d57bd-9de2-4474-b547-f24b85e050d1 g.chr20:39991087C>T uc002xjy.1 - 3 1346 c.1122G>A c.(1120-1122)caG>caA p.Q374Q NM_052846 NP_443078 Q9NT22 EMIL3_HUMAN Homo sapiens elastin microfibril interfacer 3 (EMILIN3), mRNA. 374 proteinaceous extracellular matrix biliary_tract(1)|endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(15)|ovary(1)|prostate(2)|skin(3)|urinary_tract(2) 30 Myeloproliferative disorder(115;0.00425) CGCTCAGGCCCTGCAGCTGGC 0.672000 3 21 0 0 1 0 0 ADO 84890 broad.mit.edu 37 10 64565221 64565221 + Missense_Mutation SNP C C A TCGA-EL-A4K4-01A-11D-A257-08 TCGA-EL-A4K4-11A-21D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23d4113a-f9a3-4581-a160-6074c4ef4dfe 4a0d57bd-9de2-4474-b547-f24b85e050d1 g.chr10:64565221C>A uc001jmg.3 + 0 706 c.402C>A c.(400-402)gaC>gaA p.D134E NM_032804 NP_116193 Q96SZ5 AEDO_HUMAN Homo sapiens 2-aminoethanethiol (cysteamine) dioxygenase (ADO), mRNA. 134 cysteamine dioxygenase activity|metal ion binding lung(2) 2 Prostate(12;0.0297)|all_hematologic(501;0.228) GCTGCATGGACAAGCTAGACG 0.716000 2 0 0 0 1 0 0 BRAF 673 broad.mit.edu 37 7 140453136 140453136 + Missense_Mutation SNP A A T rs121913377 TCGA-EL-A4K4-01A-11D-A257-08 TCGA-EL-A4K4-11A-21D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23d4113a-f9a3-4581-a160-6074c4ef4dfe 4a0d57bd-9de2-4474-b547-f24b85e050d1 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 14 39 0 0 1 0 0 OR10H2 26538 broad.mit.edu 37 19 15839218 15839218 + Missense_Mutation SNP G G A rs145907157 TCGA-EL-A4K4-01A-11D-A257-08 TCGA-EL-A4K4-11A-21D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23d4113a-f9a3-4581-a160-6074c4ef4dfe 4a0d57bd-9de2-4474-b547-f24b85e050d1 g.chr19:15839218G>A uc002nbm.2 + 0 385 c.365G>A c.(364-366)cGc>cAc p.R122H NM_013939 NP_039227 O60403 O10H2_HUMAN Homo sapiens olfactory receptor, family 10, subfamily H, member 2 (OR10H2), mRNA. 122 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.D121Y(1) breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|skin(3)|stomach(1) 27 all_hematologic(1;0.0517)|Acute lymphoblastic leukemia(2;0.074) GGCTACGACCGCTACGTGGCC 0.647000 24 40 0 0 1 0 0 TRIM6-TRIM34 445372 broad.mit.edu 37 11 5624780 5624780 + Missense_Mutation SNP C C T rs61758093 TCGA-EL-A4K4-01A-11D-A257-08 TCGA-EL-A4K4-11A-21D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23d4113a-f9a3-4581-a160-6074c4ef4dfe 4a0d57bd-9de2-4474-b547-f24b85e050d1 g.chr11:5624780C>T uc001mbf.3 + 1 585 c.322C>T c.(322-324)Cgg>Tgg p.R108W HBG1_uc001mak.1_Intron|TRIM6-TRIM34_uc009yeo.2_Missense_Mutation_p.R80W|TRIM6-TRIM34_uc010qzj.2_Intron|TRIM6-TRIM34_uc001mbc.2_Missense_Mutation_p.R80W|TRIM6-TRIM34_uc001mbe.3_Intron|TRIM6-TRIM34_uc001mbd.3_Missense_Mutation_p.R108W|TRIM6-TRIM34_uc010qzk.2_Intron|TRIM6-TRIM34_uc010qzl.2_Intron|TRIM6-TRIM34_uc009yep.1_5'Flank NM_001003819 NP_067629 B2RNG4 B2RNG4_HUMAN Homo sapiens TRIM6-TRIM34 readthrough (TRIM6-TRIM34), mRNA. 108 intracellular zinc ion binding NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(9)|ovary(1)|prostate(2)|stomach(2)|urinary_tract(1) 33 Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212) Epithelial(150;1.01e-08)|BRCA - Breast invasive adenocarcinoma(625;0.145) CATAGTGAGGCGGCTCAGAGA 0.552000 10 43 0 0 1 0 0 NCOR2 9612 broad.mit.edu 37 12 124827559 124827559 + Missense_Mutation SNP A A T TCGA-EL-A4K4-01A-11D-A257-08 TCGA-EL-A4K4-11A-21D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23d4113a-f9a3-4581-a160-6074c4ef4dfe 4a0d57bd-9de2-4474-b547-f24b85e050d1 g.chr12:124827559A>T uc021rga.1 - 32 5066 c.4949T>A c.(4948-4950)cTg>cAg p.L1650Q NCOR2_uc021rgb.1_Missense_Mutation_p.L1634Q|NCOR2_uc010tbb.2_Missense_Mutation_p.L1643Q|NCOR2_uc010tbc.2_Missense_Mutation_p.L1633Q|NCOR2_uc021rgc.1_Missense_Mutation_p.L1633Q|NCOR2_uc010tba.2_Missense_Mutation_p.L1651Q|NCOR2_uc010tax.2_5'Flank NM_006312 NP_006303 Q9Y618 NCOR2_HUMAN Homo sapiens nuclear receptor corepressor 2 (NCOR2), transcript variant 1, mRNA. 1651 cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent nuclear body|nucleus|transcriptional repressor complex DNA binding|Notch binding|histone deacetylase binding|protein N-terminus binding|transcription corepressor activity breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 69 all_neural(191;0.0804)|Medulloblastoma(191;0.163) Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764) ACCTGCGTCCAGAGGGATGCC 0.637000 3 22 0 0 1 0 0 BSN 8927 broad.mit.edu 37 3 49689975 49689975 + Missense_Mutation SNP C C T TCGA-EL-A4K4-01A-11D-A257-08 TCGA-EL-A4K4-11A-21D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23d4113a-f9a3-4581-a160-6074c4ef4dfe 4a0d57bd-9de2-4474-b547-f24b85e050d1 g.chr3:49689975C>T uc003cxe.4 + 4 3100 c.2986C>T c.(2986-2988)Ccc>Tcc p.P996S NM_003458 NP_003449 Q9UPA5 BSN_HUMAN Homo sapiens bassoon (presynaptic cytomatrix protein) (BSN), mRNA. 996 synaptic transmission cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome metal ion binding breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 106 BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336) GGGCACCTCTCCCACCTCTCT 0.647000 15 23 0 0 1 0 0 LACTB 114294 broad.mit.edu 37 15 63414116 63414116 + Frame_Shift_Del DEL G G - rs34925488 byFrequency TCGA-EL-A4K4-01A-11D-A257-08 TCGA-EL-A4K4-11A-21D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23d4113a-f9a3-4581-a160-6074c4ef4dfe 4a0d57bd-9de2-4474-b547-f24b85e050d1 g.chr15:63414116delG uc002alw.3 + 0 118 c.46delG c.(46-48)gggfs p.G16fs LACTB_uc002alv.3_Frame_Shift_Del_p.G16fs NM_032857 NP_116246 P83111 LACTB_HUMAN Homo sapiens lactamase, beta (LACTB), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA. 16 mitochondrion hydrolase activity NS(1)|breast(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)|stomach(1) 12 TGCCGCCCCCGGGGGCTTGGC 0.751 2 4 --- --- --- --- MSRB1 51734 broad.mit.edu 37 16 1993132 1993132 + Frame_Shift_Del DEL C C - TCGA-EL-A4K4-01A-11D-A257-08 TCGA-EL-A4K4-11A-21D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23d4113a-f9a3-4581-a160-6074c4ef4dfe 4a0d57bd-9de2-4474-b547-f24b85e050d1 g.chr16:1993132delC uc021tam.1 - 0 163 c.26delG c.(25-27)ggcfs p.G9fs TCRBV20S1_uc021tak.1_Intron NM_016332 NP_057416 Q9NZV6 MSRB1_HUMAN Homo sapiens selenoprotein X, 1 (SEPX1), mRNA. 9 protein repair cytoplasm|nucleus peptide-methionine-(S)-S-oxide reductase activity|zinc ion binding L-Methionine(DB00134) GAAAACCTCGCCCCCGAAGAA 0.697 2 4 --- --- --- ---