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 CORO7-PAM16 100529144 broad.mit.edu 37 16 4411173 4411173 + Silent SNP A A C TCGA-ET-A2N1-01A-11D-A18F-08 TCGA-ET-A2N1-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ed3e66e-f784-483f-ac37-1300736584a4 7e8e39e1-ce53-49ec-9f65-b0e9afcddeb5 g.chr16:4411173A>C uc002cwf.3 - 17 2207 c.1764T>G c.(1762-1764)acT>acG p.T588T CORO7-PAM16_uc002cwe.3_Non-coding_Transcript|CORO7-PAM16_uc002cwg.4_Silent_p.T368T|CORO7-PAM16_uc002cwh.4_Silent_p.T588T|CORO7-PAM16_uc010uxh.2_Silent_p.T570T|CORO7-PAM16_uc010uxi.2_Silent_p.T503T|CORO7-PAM16_uc002cwi.1_Silent_p.T368T|CORO7-PAM16_uc010uxj.1_Non-coding_Transcript NM_001201479 NP_001188408 Homo sapiens CORO7-PAM16 readthrough (CORO7-PAM16), mRNA. CTGTGAGCACAGTCTCTGGCG 0.652000 13 25 0 0 1 0 0 ZNF33B 7582 broad.mit.edu 37 10 43088158 43088158 + Missense_Mutation SNP T T C TCGA-ET-A2N1-01A-11D-A18F-08 TCGA-ET-A2N1-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ed3e66e-f784-483f-ac37-1300736584a4 7e8e39e1-ce53-49ec-9f65-b0e9afcddeb5 g.chr10:43088158T>C uc001jaf.1 - 4 2355 c.2240A>G c.(2239-2241)aAg>aGg p.K747R ZNF33B_uc009xmg.1_Intron|ZNF33B_uc001jae.1_Intron|ZNF33B_uc001jag.1_Missense_Mutation_p.K635R|ZNF33B_uc001jad.3_Intron NM_006955 NP_008886 Q06732 ZN33B_HUMAN Homo sapiens zinc finger protein 33B (ZNF33B), mRNA. 747 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(15)|skin(1)|stomach(1) 29 TTCATAGGGCTTTTCCCCTGT 0.373000 3 100 0 0 1 0 0 MRPS31 10240 broad.mit.edu 37 13 41331142 41331142 + Missense_Mutation SNP T T A TCGA-ET-A2N1-01A-11D-A18F-08 TCGA-ET-A2N1-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ed3e66e-f784-483f-ac37-1300736584a4 7e8e39e1-ce53-49ec-9f65-b0e9afcddeb5 g.chr13:41331142T>A uc001uxm.4 - 3 682 c.607A>T c.(607-609)Aac>Tac p.N203Y NM_005830 NP_005821 Q92665 RT31_HUMAN Homo sapiens mitochondrial ribosomal protein S31 (MRPS31), nuclear gene encoding mitochondrial protein, mRNA. 203 mitochondrion|ribosome protein domain specific binding breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1) 13 Lung NSC(96;3.55e-06)|Breast(139;0.00394)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(188;0.194) all cancers(112;1.52e-08)|Epithelial(112;7.63e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000192)|GBM - Glioblastoma multiforme(144;0.00233)|BRCA - Breast invasive adenocarcinoma(63;0.0706) GATATTATGTTACTGAAACTG 0.343000 18 19 0 0 1 0 0 FAM83E 54854 broad.mit.edu 37 19 49116552 49116552 + Silent SNP T T C TCGA-ET-A2N1-01A-11D-A18F-08 TCGA-ET-A2N1-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ed3e66e-f784-483f-ac37-1300736584a4 7e8e39e1-ce53-49ec-9f65-b0e9afcddeb5 g.chr19:49116552T>C uc002pjn.2 - 0 143 c.78A>G c.(76-78)ctA>ctG p.L26L NM_017708 NP_060178 Q2M2I3 FA83E_HUMAN Homo sapiens family with sequence similarity 83, member E (FAM83E), mRNA. 26 NS(1)|endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|urinary_tract(2) 10 all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261) OV - Ovarian serous cystadenocarcinoma(262;0.000102)|all cancers(93;0.000117)|GBM - Glioblastoma multiforme(486;0.00627)|Epithelial(262;0.0158) CCTCGGAATATAGAAAGCCGG 0.701000 6 6 0 0 1 0 0 C15orf2 23742 broad.mit.edu 37 15 24923276 24923276 + Silent SNP G G A TCGA-ET-A2N1-01A-11D-A18F-08 TCGA-ET-A2N1-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ed3e66e-f784-483f-ac37-1300736584a4 7e8e39e1-ce53-49ec-9f65-b0e9afcddeb5 g.chr15:24923276G>A uc001ywo.3 + 0 2736 c.2262G>A c.(2260-2262)agG>agA p.R754R NM_018958 NP_061831 Q9NZP6 CO002_HUMAN Homo sapiens chromosome 15 open reading frame 2 (C15orf2), mRNA. 754 cell differentiation|multicellular organismal development|spermatogenesis p.V753F(1) NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(1)|large_intestine(28)|lung(77)|ovary(5)|pancreas(1)|skin(8) 140 all_cancers(20;2.14e-21)|all_epithelial(15;4.77e-19)|Lung NSC(15;1.43e-14)|all_lung(15;9.57e-14)|Breast(32;0.00086) all cancers(64;3.19e-24)|Epithelial(43;2.67e-17)|GBM - Glioblastoma multiforme(186;7.36e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000273)|Lung(196;0.229) AGTCAGTCAGGGCACCAGCTA 0.572000 7 191 0 0 1 0 0 NGFR 4804 broad.mit.edu 37 17 47583935 47583935 + Silent SNP G G A TCGA-ET-A2N1-01A-11D-A18F-08 TCGA-ET-A2N1-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ed3e66e-f784-483f-ac37-1300736584a4 7e8e39e1-ce53-49ec-9f65-b0e9afcddeb5 g.chr17:47583935G>A uc002ioz.4 + 2 608 c.483G>A c.(481-483)gtG>gtA p.V161V NM_002507 NP_002498 P08138 TNR16_HUMAN Homo sapiens nerve growth factor receptor (NGFR), mRNA. 161 anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|membrane protein intracellular domain proteolysis|negative regulation of axonogenesis|negative regulation of cell cycle|nerve growth factor receptor signaling pathway|positive regulation of axonogenesis cell surface|cytosol|endosome|extracellular region|integral to plasma membrane|nucleoplasm central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(7)|ovary(1) 17 all_cancers(4;1.45e-13)|Breast(4;6.34e-28)|all_epithelial(4;4.95e-17) CCAACCACGTGGACCCGTGCC 0.701000 9 9 0 0 1 0 0 DDX23 9416 broad.mit.edu 37 12 49230719 49230719 + Missense_Mutation SNP A A G TCGA-ET-A2N1-01A-11D-A18F-08 TCGA-ET-A2N1-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ed3e66e-f784-483f-ac37-1300736584a4 7e8e39e1-ce53-49ec-9f65-b0e9afcddeb5 g.chr12:49230719A>G uc001rsm.3 - 8 1059 c.968T>C c.(967-969)cTa>cCa p.L323P NM_004818 NP_004809 Q9BUQ8 DDX23_HUMAN Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 23 (DDX23), mRNA. 323 U5 snRNP|catalytic step 2 spliceosome|nucleoplasm ATP binding|ATP-dependent RNA helicase activity|nucleic acid binding|protein binding NS(1)|cervix(1)|kidney(4)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(3) 36 CTTCTCCATTAGGTCTCCATA 0.532000 4 404 0 0 1 0 0 YEATS4 8089 broad.mit.edu 37 12 69756619 69756619 + Missense_Mutation SNP G G A TCGA-ET-A2N1-01A-11D-A18F-08 TCGA-ET-A2N1-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ed3e66e-f784-483f-ac37-1300736584a4 7e8e39e1-ce53-49ec-9f65-b0e9afcddeb5 g.chr12:69756619G>A uc001sux.3 + 1 324 c.103G>A c.(103-105)Gga>Aga p.G35R NM_006530 NP_006521 O95619 YETS4_HUMAN Homo sapiens YEATS domain containing 4 (YEATS4), mRNA. 35 YEATS. histone H2A acetylation|histone H4 acetylation|mitosis|positive regulation of transcription, DNA-dependent|regulation of growth NuA4 histone acetyltransferase complex|nuclear matrix DNA binding|protein C-terminus binding|sequence-specific DNA binding transcription factor activity|structural constituent of cytoskeleton breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(1) 5 all_epithelial(5;9.25e-35)|Breast(13;9.83e-07)|Esophageal squamous(21;0.187) Epithelial(6;6.89e-18)|BRCA - Breast invasive adenocarcinoma(5;3.14e-09)|Lung(24;9.68e-05)|LUAD - Lung adenocarcinoma(15;0.00107)|OV - Ovarian serous cystadenocarcinoma(12;0.00691)|STAD - Stomach adenocarcinoma(21;0.0151)|LUSC - Lung squamous cell carcinoma(43;0.24)|Kidney(9;0.241) TCGGTATTTTGGAAAGAAAAG 0.323000 8 59 0 0 1 0 0 SLCO6A1 133482 broad.mit.edu 37 5 101726729 101726729 + Missense_Mutation SNP C C T TCGA-ET-A2N1-01A-11D-A18F-08 TCGA-ET-A2N1-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ed3e66e-f784-483f-ac37-1300736584a4 7e8e39e1-ce53-49ec-9f65-b0e9afcddeb5 g.chr5:101726729C>T uc003knn.3 - 10 2007 c.1835G>A c.(1834-1836)cGt>cAt p.R612H SLCO6A1_uc003kno.3_Missense_Mutation_p.R359H|SLCO6A1_uc003knp.3_Missense_Mutation_p.R612H|SLCO6A1_uc003knq.3_Missense_Mutation_p.R550H NM_173488 NP_775759 Q86UG4 SO6A1_HUMAN Homo sapiens solute carrier organic anion transporter family, member 6A1 (SLCO6A1), mRNA. 612 integral to membrane|plasma membrane transporter activity breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(17)|lung(22)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 60 all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323) Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113) GGCCAGAGAACGCAGTTTGTC 0.328000 36 66 0 0 1 0 0 DHRS4 10901 broad.mit.edu 37 14 24459498 24459498 + Missense_Mutation SNP A A G TCGA-ET-A2N1-01A-11D-A18F-08 TCGA-ET-A2N1-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ed3e66e-f784-483f-ac37-1300736584a4 7e8e39e1-ce53-49ec-9f65-b0e9afcddeb5 g.chr14:24459498A>G uc001wli.4 + 1 366 c.236A>G c.(235-237)gAg>gGg p.E79G DHRS4_uc021rrd.1_Intron|DHRS4_uc021rrf.1_Missense_Mutation_p.E77G|DHRS4_uc001wld.4_Intron|DHRS4_uc001wle.4_Intron|DHRS4_uc001wlc.4_Intron|DHRS4L2_uc021rra.1_3'UTR|DHRS4_uc021rrb.1_5'UTR|DHRS4_uc021rrc.1_5'UTR|DHRS4_uc021rre.1_Missense_Mutation_p.E51G|DHRS4_uc010tnt.2_Missense_Mutation_p.E77G NM_198083 NP_001180565 Q9BTZ2 DHRS4_HUMAN Homo sapiens dehydrogenase/reductase (SDR family) member 4 like 2 (DHRS4L2), transcript variant 1, mRNA. 79 mitochondrion|nuclear membrane|peroxisome binding|carbonyl reductase (NADPH) activity central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(1)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 14 GBM - Glioblastoma multiforme(265;0.00962) Vitamin A(DB00162) CTGCAGGGGGAGGGGCTGAGC 0.687000 3 50 0 0 1 0 0 LRP1 4035 broad.mit.edu 37 12 57572249 57572249 + Missense_Mutation SNP A A G TCGA-ET-A2N1-01A-11D-A18F-08 TCGA-ET-A2N1-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ed3e66e-f784-483f-ac37-1300736584a4 7e8e39e1-ce53-49ec-9f65-b0e9afcddeb5 g.chr12:57572249A>G uc001snd.3 + 26 4935 c.4469A>G c.(4468-4470)gAg>gGg p.E1490G NM_002332 NP_002323 Q07954 LRP1_HUMAN Homo sapiens low density lipoprotein receptor-related protein 1 (LRP1), mRNA. 1490 aorta morphogenesis|apoptotic cell clearance|negative regulation of Wnt receptor signaling pathway|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity coated pit|integral to plasma membrane|nucleus apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5) 184 BRCA - Breast invasive adenocarcinoma(357;0.0103) Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031) TACGGGGGGGAGGTCTACTGG 0.592000 3 73 0 0 1 0 0 RABEP2 79874 broad.mit.edu 37 16 28920058 28920058 + Missense_Mutation SNP G G T TCGA-ET-A2N1-01A-11D-A18F-08 TCGA-ET-A2N1-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ed3e66e-f784-483f-ac37-1300736584a4 7e8e39e1-ce53-49ec-9f65-b0e9afcddeb5 g.chr16:28920058G>T uc002drq.3 - 7 1165 c.1117C>A c.(1117-1119)Ctg>Atg p.L373M NPIPL1_uc010vct.2_Intron|RABEP2_uc010vdf.2_Missense_Mutation_p.L302M|RABEP2_uc010byn.3_Missense_Mutation_p.L341M NM_024816 NP_079092 Q9H5N1 RABE2_HUMAN Homo sapiens rabaptin, RAB GTPase binding effector protein 2 (RABEP2), mRNA. 373 endocytosis|protein transport early endosome GTPase activator activity|growth factor activity breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|skin(1) 16 TCATGGTGCAGGCACTTGTGG 0.602000 41 71 0 0 1 0 0 TBC1D12 23232 broad.mit.edu 37 10 96163149 96163149 + Frame_Shift_Del DEL C C - TCGA-ET-A2N1-01A-11D-A18F-08 TCGA-ET-A2N1-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ed3e66e-f784-483f-ac37-1300736584a4 7e8e39e1-ce53-49ec-9f65-b0e9afcddeb5 g.chr10:96163149delC uc001kjr.2 + 0 964 c.779delC c.(778-780)gcgfs p.A260fs NM_015188 NP_056003 O60347 TBC12_HUMAN Homo sapiens TBC1 domain family, member 12 (TBC1D12), mRNA. 260 intracellular Rab GTPase activator activity breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(2) 20 Colorectal(252;0.0429) AATGGGGGTGCGGAGCCGCGC 0.701 2 4 --- --- --- ---