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 SMCR8 140775 broad.mit.edu 37 17 18219366 18219366 + Missense_Mutation SNP A A G TCGA-EL-A3ZQ-01A-11D-A23M-08 TCGA-EL-A3ZQ-11A-11D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4694460d-de2a-4b9e-9391-dc57816752bf a51fd081-0952-40bf-8412-b293d88100dc g.chr17:18219366A>G uc002gsy.4 + 0 773 c.263A>G c.(262-264)aAt>aGt p.N88S NM_144775 NP_658988 Q8TEV9 SMCR8_HUMAN Homo sapiens Smith-Magenis syndrome chromosome region, candidate 8 (SMCR8), mRNA. 88 p.N88S(2) breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 21 TTTGATCTCAATTACTTCTCC 0.507000 69 111 0 0 1 0 0 USH1G 124590 broad.mit.edu 37 17 72916218 72916218 + Missense_Mutation SNP C C T TCGA-EL-A3ZQ-01A-11D-A23M-08 TCGA-EL-A3ZQ-11A-11D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4694460d-de2a-4b9e-9391-dc57816752bf a51fd081-0952-40bf-8412-b293d88100dc g.chr17:72916218C>T uc002jme.1 - 1 896 c.713G>A c.(712-714)cGc>cAc p.R238H USH1G_uc010wro.1_Missense_Mutation_p.R135H NM_173477 NP_775748 Q495M9 USH1G_HUMAN Homo sapiens Usher syndrome 1G (autosomal recessive) (USH1G), mRNA. 238 equilibrioception|photoreceptor cell maintenance|sensory perception of sound actin cytoskeleton HN1/USH1G(2) endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|prostate(1)|skin(3) 14 all_lung(278;0.172)|Lung NSC(278;0.207) GGCGCTCTTGCGCCCATCCTC 0.687000 7 104 0 0 1 0 0 DIP2C 22982 broad.mit.edu 37 10 459978 459978 + Missense_Mutation SNP C C G TCGA-EL-A3ZQ-01A-11D-A23M-08 TCGA-EL-A3ZQ-11A-11D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4694460d-de2a-4b9e-9391-dc57816752bf a51fd081-0952-40bf-8412-b293d88100dc g.chr10:459978C>G uc001ifp.3 - 7 1022 c.932G>C c.(931-933)gGc>gCc p.G311A DIP2C_uc009xhj.1_Missense_Mutation_p.G7A NM_014974 NP_055789 Q9Y2E4 DIP2C_HUMAN Homo sapiens DIP2 disco-interacting protein 2 homolog C (Drosophila) (DIP2C), mRNA. 311 nucleus catalytic activity|transcription factor binding breast(8)|endometrium(6)|kidney(10)|large_intestine(13)|lung(26)|ovary(3)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4) 81 all_cancers(4;0.00336)|all_lung(4;0.00732)|Lung NSC(4;0.00785)|all_epithelial(10;0.0159)|Colorectal(49;0.235) OV - Ovarian serous cystadenocarcinoma(33;0.136) Epithelial(11;0.0123)|all cancers(11;0.0467)|Lung(33;0.0864)|OV - Ovarian serous cystadenocarcinoma(14;0.106) CGTGACCACGCCCAGCTGCTC 0.627000 27 76 0 0 1 0 0 BRAF 673 broad.mit.edu 37 7 140453136 140453136 + Missense_Mutation SNP A A T rs121913377 TCGA-EL-A3ZQ-01A-11D-A23M-08 TCGA-EL-A3ZQ-11A-11D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4694460d-de2a-4b9e-9391-dc57816752bf a51fd081-0952-40bf-8412-b293d88100dc 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 17 28 0 0 1 0 0 FOLH1 2346 broad.mit.edu 37 11 49208318 49208318 + Missense_Mutation SNP C C T TCGA-EL-A3ZQ-01A-11D-A23M-08 TCGA-EL-A3ZQ-11A-11D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4694460d-de2a-4b9e-9391-dc57816752bf a51fd081-0952-40bf-8412-b293d88100dc g.chr11:49208318C>T uc001ngy.3 - 4 778 c.517G>A c.(517-519)Gat>Aat p.D173N FOLH1_uc009yly.3_Missense_Mutation_p.D158N|FOLH1_uc009ylz.3_Missense_Mutation_p.D158N|FOLH1_uc001ngz.3_Missense_Mutation_p.D173N|FOLH1_uc009yma.3_5'UTR NM_004476 NP_001180402 Q04609 FOLH1_HUMAN Homo sapiens folate hydrolase (prostate-specific membrane antigen) 1 (FOLH1), transcript variant 1, mRNA. 173 proteolysis cytoplasm|integral to plasma membrane|membrane fraction|nucleus carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity NS(2)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(34)|ovary(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3) 60 Capromab(DB00089)|L-Glutamic Acid(DB00142) TACACTAGATCGCCCTGTTGA 0.393000 14 32 0 0 1 0 0 NTNG1 22854 broad.mit.edu 37 1 107867092 107867092 + Silent SNP A A C TCGA-EL-A3ZQ-01A-11D-A23M-08 TCGA-EL-A3ZQ-11A-11D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4694460d-de2a-4b9e-9391-dc57816752bf a51fd081-0952-40bf-8412-b293d88100dc g.chr1:107867092A>C uc001dvh.4 + 2 1153 c.435A>C c.(433-435)acA>acC p.T145T NTNG1_uc001dvc.4_Silent_p.T145T|NTNG1_uc010out.2_Silent_p.T145T|NTNG1_uc001dvf.4_Silent_p.T145T|NTNG1_uc001dvd.1_Silent_p.T145T NM_001113226 NP_001106697 Q9Y2I2 NTNG1_HUMAN Homo sapiens netrin G1 (NTNG1), transcript variant 1, mRNA. 145 Laminin N-terminal. axonogenesis anchored to plasma membrane protein binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(8)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(3)|soft_tissue(1)|urinary_tract(1) 37 all_epithelial(167;1.39e-05)|all_lung(203;0.000115)|Lung NSC(277;0.000238)|Breast(1374;0.243) Lung(183;0.0946)|BRCA - Breast invasive adenocarcinoma(282;0.237)|Epithelial(280;0.245) TTGAGCTAACAGACAACATAG 0.463000 29 51 0 0 1 0 0 ACSS3 79611 broad.mit.edu 37 12 81503376 81503376 + Missense_Mutation SNP G G A TCGA-EL-A3ZQ-01A-11D-A23M-08 TCGA-EL-A3ZQ-11A-11D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4694460d-de2a-4b9e-9391-dc57816752bf a51fd081-0952-40bf-8412-b293d88100dc g.chr12:81503376G>A uc001szl.1 + 1 440 c.349G>A c.(349-351)Gtt>Att p.V117I ACSS3_uc001szm.1_Missense_Mutation_p.V116I NM_024560 NP_078836 Q9H6R3 ACSS3_HUMAN Homo sapiens acyl-CoA synthetase short-chain family member 3 (ACSS3), mRNA. 117 mitochondrion ATP binding|acetate-CoA ligase activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(7)|liver(3)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2) 51 TTACAATGCCGTTGATCGTCA 0.323000 3 26 0 0 1 0 0 UGGT2 55757 broad.mit.edu 37 13 96705526 96705526 + Missense_Mutation SNP A A T TCGA-EL-A3ZQ-01A-11D-A23M-08 TCGA-EL-A3ZQ-11A-11D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4694460d-de2a-4b9e-9391-dc57816752bf a51fd081-0952-40bf-8412-b293d88100dc g.chr13:96705526A>T uc001vmt.3 - 0 211 c.41T>A c.(40-42)cTa>cAa p.L14Q UGGT2_uc010afo.3_Non-coding_Transcript|UGGT2_uc001vmv.3_Missense_Mutation_p.L14Q NM_020121 NP_064506 Q9NYU1 UGGG2_HUMAN Homo sapiens UDP-glucose glycoprotein glucosyltransferase 2 (UGGT2), mRNA. 14 post-translational protein modification|protein N-linked glycosylation via asparagine|protein folding ER-Golgi intermediate compartment|endoplasmic reticulum lumen UDP-glucose:glycoprotein glucosyltransferase activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(17)|lung(20)|ovary(3)|pancreas(1)|prostate(4)|urinary_tract(2) 60 TGTGGAGCCTAGTAGCAGCCG 0.687000 5 11 0 0 1 0 0 SMAD9 4093 broad.mit.edu 37 13 37453538 37453538 + Missense_Mutation SNP G G A TCGA-EL-A3ZQ-01A-11D-A23M-08 TCGA-EL-A3ZQ-11A-11D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4694460d-de2a-4b9e-9391-dc57816752bf a51fd081-0952-40bf-8412-b293d88100dc g.chr13:37453538G>A uc001uvw.3 - 1 632 c.289C>T c.(289-291)Cgc>Tgc p.R97C SMAD9_uc001uvx.3_Missense_Mutation_p.R97C|SMAD9_uc010tep.2_5'UTR NM_001127217 NP_001120689 O15198 SMAD9_HUMAN Homo sapiens SMAD family member 9 (SMAD9), transcript variant a, mRNA. 97 MH1. BMP signaling pathway|transforming growth factor beta receptor signaling pathway cytosol|transcription factor complex sequence-specific DNA binding transcription factor activity|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity p.R97C(3)|p.W96C(1) NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8) 18 Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.184) all cancers(112;3.38e-07)|Epithelial(112;1.93e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00804)|BRCA - Breast invasive adenocarcinoma(63;0.0129)|GBM - Glioblastoma multiforme(144;0.026) TCCGGCCAGCGCCACACGCGA 0.612000 4 56 0 0 1 0 0 TG 7038 broad.mit.edu 37 8 133895206 133895207 + Frame_Shift_Ins INS - - G TCGA-EL-A3ZQ-01A-11D-A23M-08 TCGA-EL-A3ZQ-11A-11D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4694460d-de2a-4b9e-9391-dc57816752bf a51fd081-0952-40bf-8412-b293d88100dc g.chr8:133895206_133895207insG uc003ytw.3 + 7 1078_1079 c.1037_1038insG c.(1036-1038)atgfs p.M346fs NM_003235 NP_003226 P01266 THYG_HUMAN Homo sapiens thyroglobulin (TG), mRNA. 346 Thyroglobulin type-1 4. hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation extracellular space hormone activity NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8) 168 Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155) Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735) BRCA - Breast invasive adenocarcinoma(115;0.000701) KIRC - Kidney renal clear cell carcinoma(542;0.0546) GGGAAGGAAATGCATGGAACCC 0.614 20 26 --- --- --- ---