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 TSHR 7253 broad.mit.edu 37 14 81609809 81609809 + Silent SNP C C A TCGA-ET-A3DS-01A-11D-A19J-08 TCGA-ET-A3DS-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx e02fad9d-940c-45dc-829b-39c38d2f6f76 0ed6611d-ccc7-4403-a1b0-6e56cd147e8f g.chr14:81609809C>A uc001xvd.1 + 9 1563 c.1407C>A c.(1405-1407)ctC>ctA p.L469L NM_000369 NP_000360 P16473 TSHR_HUMAN Homo sapiens thyroid stimulating hormone receptor (TSHR), transcript variant 1, mRNA. 469 cell-cell signaling|positive regulation of cell proliferation integral to plasma membrane protein binding|thyroid-stimulating hormone receptor activity breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(2)|stomach(1)|thyroid(291)|upper_aerodigestive_tract(1) 337 BRCA - Breast invasive adenocarcinoma(234;0.0402) Thyrotropin Alfa(DB00024) ACCTGCTCCTCATCGCCTCTG 0.537000 Mis toxic thyroid adenoma thyroid adenoma Hereditary nonautoimmune hyperthyroidism; subclinical hypothyroidism 42 69 0 0 1 0 0 CCDC62 84660 broad.mit.edu 37 12 123276650 123276650 + Missense_Mutation SNP G G T TCGA-ET-A3DS-01A-11D-A19J-08 TCGA-ET-A3DS-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx e02fad9d-940c-45dc-829b-39c38d2f6f76 0ed6611d-ccc7-4403-a1b0-6e56cd147e8f g.chr12:123276650G>T uc001udc.3 + 5 916 c.754G>T c.(754-756)Gat>Tat p.D252Y CCDC62_uc010tah.2_Non-coding_Transcript|CCDC62_uc001ude.3_Intron|CCDC62_uc021rfn.1_Missense_Mutation_p.D67Y NM_201435 NP_958843 Q6P9F0 CCD62_HUMAN Homo sapiens coiled-coil domain containing 62 (CCDC62), transcript variant 2, mRNA. 252 cytoplasm|nucleus p.D252N(3) breast(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(1) 20 all_neural(191;0.0837)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;6.51e-06)|Epithelial(86;2.65e-05)|BRCA - Breast invasive adenocarcinoma(302;0.206) TTGCCTGCACGATGAATTGCT 0.393000 17 85 0 0 1 0 0 QSER1 79832 broad.mit.edu 37 11 32953853 32953853 + Missense_Mutation SNP T T G TCGA-ET-A3DS-01A-11D-A19J-08 TCGA-ET-A3DS-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx e02fad9d-940c-45dc-829b-39c38d2f6f76 0ed6611d-ccc7-4403-a1b0-6e56cd147e8f g.chr11:32953853T>G uc001mty.3 + 3 929 c.662T>G c.(661-663)gTa>gGa p.V221G QSER1_uc001mtz.1_Missense_Mutation_p.V221G|QSER1_uc001mua.3_5'Flank NM_001076786 NP_001070254 Q2KHR3 QSER1_HUMAN Homo sapiens glutamine and serine rich 1 (QSER1), mRNA. 221 Ser-rich. breast(5)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1) 48 Breast(20;0.158) AATTCAAGTGTAGTTAATTTT 0.438000 9 37 0 0 1 0 0 BTAF1 9044 broad.mit.edu 37 10 93748982 93748982 + Silent SNP T T C TCGA-ET-A3DS-01A-11D-A19J-08 TCGA-ET-A3DS-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx e02fad9d-940c-45dc-829b-39c38d2f6f76 0ed6611d-ccc7-4403-a1b0-6e56cd147e8f g.chr10:93748982T>C uc001khr.3 + 19 2597 c.2499T>C c.(2497-2499)agT>agC p.S833S BTAF1_uc001khs.1_Silent_p.S503S|BTAF1_uc001kht.1_Silent_p.S271S NM_003972 NP_003963 O14981 BTAF1_HUMAN Homo sapiens BTAF1 RNA polymerase II, B-TFIID transcription factor-associated, 170kDa (Mot1 homolog, S. cerevisiae) (BTAF1), mRNA. 833 negative regulation of transcription, DNA-dependent nucleus ATP binding|DNA binding|helicase activity|sequence-specific DNA binding transcription factor activity central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(6) 59 Colorectal(252;0.0846) AGTTAGATAGTAAACGACAGC 0.378000 23 44 0 0 1 0 0 GPR112 139378 broad.mit.edu 37 X 135427194 135427194 + Silent SNP C C T TCGA-ET-A3DS-01A-11D-A19J-08 TCGA-ET-A3DS-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx e02fad9d-940c-45dc-829b-39c38d2f6f76 0ed6611d-ccc7-4403-a1b0-6e56cd147e8f g.chrX:135427194C>T uc004ezu.1 + 5 1620 c.1329C>T c.(1327-1329)gcC>gcT p.A443A GPR112_uc010nsb.1_Silent_p.A238A|GPR112_uc010nsc.1_Silent_p.A210A NM_153834 NP_722576 Q8IZF6 GP112_HUMAN Homo sapiens G protein-coupled receptor 112 (GPR112), mRNA. 443 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2) 199 Acute lymphoblastic leukemia(192;0.000127) CTACAGCTGCCGGAACTGTAC 0.478000 23 66 0 0 1 0 0 KCNAB3 9196 broad.mit.edu 37 17 7829388 7829388 + Silent SNP G G A TCGA-ET-A3DS-01A-11D-A19J-08 TCGA-ET-A3DS-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx e02fad9d-940c-45dc-829b-39c38d2f6f76 0ed6611d-ccc7-4403-a1b0-6e56cd147e8f g.chr17:7829388G>A uc002gjm.1 - 4 438 c.438C>T c.(436-438)agC>agT p.S146S KCNAB3_uc010vul.1_Non-coding_Transcript NM_004732 NP_004723 O43448 KCAB3_HUMAN Homo sapiens potassium voltage-gated channel, shaker-related subfamily, beta member 3 (KCNAB3), mRNA. 146 cytoplasm|integral to membrane oxidoreductase activity|potassium channel regulator activity|voltage-gated potassium channel activity breast(2)|endometrium(2)|large_intestine(1)|lung(1)|ovary(1)|prostate(1) 8 Prostate(122;0.157) TCCAACCTTTGCTCTTGAGGA 0.478000 11 118 0 0 1 0 0 LRSAM1 90678 broad.mit.edu 37 9 130224635 130224635 + Missense_Mutation SNP C C T TCGA-ET-A3DS-01A-11D-A19J-08 TCGA-ET-A3DS-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx e02fad9d-940c-45dc-829b-39c38d2f6f76 0ed6611d-ccc7-4403-a1b0-6e56cd147e8f g.chr9:130224635C>T uc004brb.2 + 8 883 c.511C>T c.(511-513)Cac>Tac p.H171Y LRSAM1_uc010mxk.2_Missense_Mutation_p.H171Y|LRSAM1_uc004brc.2_Missense_Mutation_p.H171Y|LRSAM1_uc004brd.2_Missense_Mutation_p.H171Y NM_001005373 NP_612370 Q6UWE0 LRSM1_HUMAN Homo sapiens leucine rich repeat and sterile alpha motif containing 1 (LRSAM1), transcript variant 2, mRNA. 171 negative regulation of endocytosis|non-lytic virus budding|protein autoubiquitination|protein catabolic process|protein polyubiquitination|protein transport|ubiquitin-dependent endocytosis cytoplasm|extracellular region|membrane part hormone activity|ubiquitin-protein ligase activity|zinc ion binding central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(2) 16 GATGCTGGCTCACGTTCGAAC 0.577000 14 52 0 0 1 0 0 ZNF251 90987 broad.mit.edu 37 8 145947459 145947459 + Missense_Mutation SNP G G C TCGA-ET-A3DS-01A-11D-A19J-08 TCGA-ET-A3DS-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx e02fad9d-940c-45dc-829b-39c38d2f6f76 0ed6611d-ccc7-4403-a1b0-6e56cd147e8f g.chr8:145947459G>C uc003zdv.4 - 4 1842 c.1586C>G c.(1585-1587)tCc>tGc p.S529C NM_138367 NP_612376 Q9BRH9 ZN251_HUMAN Homo sapiens zinc finger protein 251 (ZNF251), mRNA. 529 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding autonomic_ganglia(1)|kidney(1)|large_intestine(5)|lung(9)|stomach(1) 17 all_cancers(97;3.54e-11)|all_epithelial(106;2.65e-10)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;2.75e-39)|Epithelial(56;7.54e-38)|all cancers(56;6.19e-33)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.11) GBM - Glioblastoma multiforme(99;0.198) TGTGAGGCTGGAGCCATGAAC 0.522000 3 59 0 0 1 0 0 C5orf42 65250 broad.mit.edu 37 5 37176053 37176053 + Missense_Mutation SNP G G A TCGA-ET-A3DS-01A-11D-A19J-08 TCGA-ET-A3DS-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx e02fad9d-940c-45dc-829b-39c38d2f6f76 0ed6611d-ccc7-4403-a1b0-6e56cd147e8f g.chr5:37176053G>A uc011cpa.1 - 30 6167 c.5936C>T c.(5935-5937)aCt>aTt p.T1979I C5orf42_uc011coy.1_Missense_Mutation_p.T479I|C5orf42_uc003jks.2_Non-coding_Transcript|C5orf42_uc011coz.1_Missense_Mutation_p.T1054I|C5orf42_uc003jkr.1_Missense_Mutation_p.T12I NM_023073 NP_075561 E9PH94 E9PH94_HUMAN Homo sapiens chromosome 5 open reading frame 42 (C5orf42), mRNA. 1979 breast(5)|endometrium(3)|kidney(8)|large_intestine(24)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 79 all_lung(31;0.000616) COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202) TGATTGAGGAGTGGTATGCCC 0.333000 8 159 0 0 1 0 0 SH3KBP1 30011 broad.mit.edu 37 X 19560130 19560130 + Missense_Mutation SNP G G A TCGA-ET-A3DS-01A-11D-A19J-08 TCGA-ET-A3DS-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx e02fad9d-940c-45dc-829b-39c38d2f6f76 0ed6611d-ccc7-4403-a1b0-6e56cd147e8f g.chrX:19560130G>A uc004czm.3 - 15 2121 c.1805C>T c.(1804-1806)gCg>gTg p.A602V SH3KBP1_uc011mje.2_Missense_Mutation_p.A341V|SH3KBP1_uc011mjf.2_Missense_Mutation_p.A364V|SH3KBP1_uc004czl.3_Missense_Mutation_p.A565V|SH3KBP1_uc010nfm.3_Missense_Mutation_p.A47V NM_031892 NP_114098 Q96B97 SH3K1_HUMAN Homo sapiens SH3-domain kinase binding protein 1 (SH3KBP1), transcript variant 1, mRNA. 602 apoptosis|cell-cell signaling|endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway cytoplasmic vesicle membrane|cytoskeleton|cytosol|focal adhesion|nucleus|synapse|synaptosome SH3 domain binding breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(8)|skin(4) 29 GCTGCTGGCCGCAGGCTCCAT 0.627000 43 75 0 0 1 0 0 GOLGB1 2804 broad.mit.edu 37 3 121415620 121415620 + Silent SNP G G A TCGA-ET-A3DS-01A-11D-A19J-08 TCGA-ET-A3DS-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx e02fad9d-940c-45dc-829b-39c38d2f6f76 0ed6611d-ccc7-4403-a1b0-6e56cd147e8f g.chr3:121415620G>A uc010hrc.3 - 12 3876 c.3750C>T c.(3748-3750)gaC>gaT p.D1250D GOLGB1_uc003eei.4_Silent_p.D1245D|GOLGB1_uc003eej.4_Silent_p.D1211D|GOLGB1_uc021xcy.1_Silent_p.D1170D|GOLGB1_uc011bjm.1_Silent_p.D1131D|GOLGB1_uc010hrd.1_Silent_p.D1209D NM_004487 NP_004478 Q14789 GOGB1_HUMAN Homo sapiens golgin B1 (GOLGB1), mRNA. 1245 Golgi organization ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane protein binding p.D1245D(1) NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13) 119 GBM - Glioblastoma multiforme(114;0.0989) GGAGTTTTCCGTCTATGGATT 0.438000 21 72 0 0 1 0 0