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 C14orf21 161424 broad.mit.edu 37 14 24774190 24774190 + Silent SNP G G T TCGA-E3-A3E0-01A-11D-A20C-08 TCGA-E3-A3E0-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc913911-8fc0-4cd6-8ba0-ebdb9cc664d1 6928cbfc-6138-441b-bc97-62a73788ef08 g.chr14:24774190G>T uc001wol.1 + 9 1863 c.1800G>T c.(1798-1800)gtG>gtT p.V600V C14orf21_uc001wom.1_Silent_p.V151V NM_174913 NP_777573 Q86U38 CN021_HUMAN Homo sapiens chromosome 14 open reading frame 21 (C14orf21), mRNA. 600 RNA binding breast(3)|central_nervous_system(2)|large_intestine(3)|liver(1)|lung(3)|prostate(2)|skin(3) 17 GBM - Glioblastoma multiforme(265;0.0185) GCCACCATGTGGCTCGAAATG 0.552000 29 60 0 0 1 0 0 GOT1L1 137362 broad.mit.edu 37 8 37795175 37795175 + Silent SNP G G A TCGA-E3-A3E0-01A-11D-A20C-08 TCGA-E3-A3E0-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc913911-8fc0-4cd6-8ba0-ebdb9cc664d1 6928cbfc-6138-441b-bc97-62a73788ef08 g.chr8:37795175G>A uc011lbj.1 - 2 490 c.390C>T c.(388-390)taC>taT p.Y130Y NM_152413 NP_689626 Q8NHS2 AATC2_HUMAN Homo sapiens glutamic-oxaloacetic transaminase 1-like 1 (GOT1L1), mRNA. 130 biosynthetic process|cellular amino acid metabolic process cytoplasm pyridoxal phosphate binding|transaminase activity central_nervous_system(1)|endometrium(3)|lung(8)|ovary(1)|prostate(1) 14 Colorectal(12;0.00627) Lung NSC(58;0.118)|all_lung(54;0.195) LUSC - Lung squamous cell carcinoma(8;1.37e-11) AAGAGATGATGTAAACTATAC 0.498000 10 14 0 0 1 0 0 CPSF3 51692 broad.mit.edu 37 2 9570993 9570993 + Missense_Mutation SNP G G A TCGA-E3-A3E0-01A-11D-A20C-08 TCGA-E3-A3E0-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc913911-8fc0-4cd6-8ba0-ebdb9cc664d1 6928cbfc-6138-441b-bc97-62a73788ef08 g.chr2:9570993G>A uc002qzo.1 + 3 360 c.325G>A c.(325-327)Gat>Aat p.D109N CPSF3_uc010ewx.1_Missense_Mutation_p.D109N|CPSF3_uc002qzp.1_Missense_Mutation_p.D72N NM_016207 NP_057291 Q9UKF6 CPSF3_HUMAN Homo sapiens cleavage and polyadenylation specific factor 3, 73kDa (CPSF3), mRNA. 109 histone mRNA 3'-end processing|mRNA cleavage|mRNA export from nucleus|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription mRNA cleavage and polyadenylation specificity factor complex|ribonucleoprotein complex 5'-3' exonuclease activity|RNA binding|endoribonuclease activity|metal ion binding|protein binding NS(1)|breast(3)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 24 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) all_cancers(51;2.39e-25)|all_epithelial(98;8.75e-19)|Lung NSC(108;2.38e-06)|Ovarian(717;0.0308) all cancers(51;2.2e-40)|Epithelial(75;6.71e-35)|OV - Ovarian serous cystadenocarcinoma(76;4.35e-21)|STAD - Stomach adenocarcinoma(1183;0.00644) GCTTCTTTCTGATTATGTCAA 0.348000 20 46 0 0 1 0 0 ZPBP 11055 broad.mit.edu 37 7 50057890 50057890 + Silent SNP T T C TCGA-E3-A3E0-01A-11D-A20C-08 TCGA-E3-A3E0-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc913911-8fc0-4cd6-8ba0-ebdb9cc664d1 6928cbfc-6138-441b-bc97-62a73788ef08 g.chr7:50057890T>C uc003tou.3 - 5 799 c.729A>G c.(727-729)aaA>aaG p.K243K ZPBP_uc010kyw.3_Silent_p.K242K NM_007009 NP_008940 Q9BS86 ZPBP1_HUMAN Homo sapiens zona pellucida binding protein (ZPBP), transcript variant 1, mRNA. 243 binding of sperm to zona pellucida extracellular region NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(3) 29 Glioma(55;0.08)|all_neural(89;0.245) GCTTGGGTCCTTTTTCAGTGT 0.294000 3 55 0 0 1 0 0 TRHDE 29953 broad.mit.edu 37 12 73012793 73012793 + Missense_Mutation SNP G G A TCGA-E3-A3E0-01A-11D-A20C-08 TCGA-E3-A3E0-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc913911-8fc0-4cd6-8ba0-ebdb9cc664d1 6928cbfc-6138-441b-bc97-62a73788ef08 g.chr12:73012793G>A uc001sxa.3 + 12 2339 c.2309G>A c.(2308-2310)cGc>cAc p.R770H NM_013381 NP_037513 Q9UKU6 TRHDE_HUMAN Homo sapiens thyrotropin-releasing hormone degrading enzyme (TRHDE), mRNA. 770 cell-cell signaling|proteolysis|signal transduction integral to plasma membrane aminopeptidase activity|metallopeptidase activity|zinc ion binding p.R770C(1) NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 79 TTACTGGACCGCATGGAAAAC 0.333000 3 68 0 0 1 0 0 ODZ1 10178 broad.mit.edu 37 X 123556255 123556255 + Silent SNP G G C TCGA-E3-A3E0-01A-11D-A20C-08 TCGA-E3-A3E0-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc913911-8fc0-4cd6-8ba0-ebdb9cc664d1 6928cbfc-6138-441b-bc97-62a73788ef08 g.chrX:123556255G>C uc010nqy.3 - 23 4402 c.4338C>G c.(4336-4338)ctC>ctG p.L1446L ODZ1_uc011muj.2_Silent_p.L1445L|ODZ1_uc004euj.3_Silent_p.L1439L NM_001163278 NP_001156750 Q9UKZ4 TEN1_HUMAN Homo sapiens odz, odd Oz/ten-m homolog 1 (Drosophila) (ODZ1), transcript variant 1, mRNA. 1439 immune response|negative regulation of cell proliferation|nervous system development|signal transduction extracellular region heparin binding NS(4)|breast(7)|cervix(3)|endometrium(23)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(36)|liver(1)|lung(93)|ovary(13)|pancreas(3)|prostate(2)|skin(10)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2) 212 CAGCTATGAAGAGCAGCCCGC 0.537000 6 209 0 0 1 0 0 PGM5 5239 broad.mit.edu 37 9 70999448 70999448 + Missense_Mutation SNP A A G TCGA-E3-A3E0-01A-11D-A20C-08 TCGA-E3-A3E0-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc913911-8fc0-4cd6-8ba0-ebdb9cc664d1 6928cbfc-6138-441b-bc97-62a73788ef08 g.chr9:70999448A>G uc004agr.3 + 2 788 c.559A>G c.(559-561)Aaa>Gaa p.K187E NM_021965 NP_068800 Q15124 PGM5_HUMAN Homo sapiens phosphoglucomutase 5 (PGM5), mRNA. 187 cell adhesion|cellular calcium ion homeostasis|glucose metabolic process Z disc|costamere|dystrophin-associated glycoprotein complex|focal adhesion|intercalated disc|internal side of plasma membrane|sarcolemma|spot adherens junction|stress fiber intramolecular transferase activity, phosphotransferases|magnesium ion binding|structural molecule activity endometrium(5)|kidney(1)|large_intestine(5)|liver(2)|lung(15)|ovary(1)|pancreas(1)|prostate(3)|skin(1) 34 AAACAAATTCAAACCATTCAG 0.378000 27 49 0 0 1 0 0 RBM47 54502 broad.mit.edu 37 4 40440487 40440487 + Missense_Mutation SNP G G A TCGA-E3-A3E0-01A-11D-A20C-08 TCGA-E3-A3E0-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc913911-8fc0-4cd6-8ba0-ebdb9cc664d1 6928cbfc-6138-441b-bc97-62a73788ef08 g.chr4:40440487G>A uc003gvc.2 - 3 1134 c.424C>T c.(424-426)Ctc>Ttc p.L142F RBM47_uc003gvd.2_Missense_Mutation_p.L142F|RBM47_uc003gve.2_Non-coding_Transcript|RBM47_uc011bys.1_Missense_Mutation_p.L104F|RBM47_uc003gvg.1_Missense_Mutation_p.L142F NM_001098634 NP_001092104 A0AV96 RBM47_HUMAN Homo sapiens RNA binding motif protein 47 (RBM47), transcript variant 1, mRNA. 142 RRM 1. nucleus RNA binding|nucleotide binding breast(5)|endometrium(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1) 29 CACACGCCGAGCAGGCGGCCC 0.622000 3 63 0 0 1 0 0 CASZ1 54897 broad.mit.edu 37 1 10714607 10714607 + Missense_Mutation SNP C C T TCGA-E3-A3E0-01A-11D-A20C-08 TCGA-E3-A3E0-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc913911-8fc0-4cd6-8ba0-ebdb9cc664d1 6928cbfc-6138-441b-bc97-62a73788ef08 g.chr1:10714607C>T uc001aro.3 - 9 2027 c.1707G>A c.(1705-1707)atG>atA p.M569I CASZ1_uc001arp.1_Missense_Mutation_p.M569I|CASZ1_uc009vmx.2_Missense_Mutation_p.M593I NM_001079843 NP_001073312 Q86V15 CASZ1_HUMAN Homo sapiens castor zinc finger 1 (CASZ1), transcript variant 1, mRNA. 569 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|large_intestine(13)|lung(18)|ovary(2)|prostate(5)|skin(2)|urinary_tract(1) 54 Ovarian(185;0.203)|all_lung(157;0.204) Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255) STAD - Stomach adenocarcinoma(5;0.0224) UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623) TCTCGTGGGTCATCACGTCAG 0.597000 6 286 0 0 1 0 0 BCL11A 53335 broad.mit.edu 37 2 60688216 60688216 + Missense_Mutation SNP C C T TCGA-E3-A3E0-01A-11D-A20C-08 TCGA-E3-A3E0-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc913911-8fc0-4cd6-8ba0-ebdb9cc664d1 6928cbfc-6138-441b-bc97-62a73788ef08 g.chr2:60688216C>T uc002sae.1 - 3 2059 c.1831G>A c.(1831-1833)Gag>Aag p.E611K BCL11A_uc002sab.3_Missense_Mutation_p.E611K|BCL11A_uc002sac.3_Intron|BCL11A_uc010ypi.2_Missense_Mutation_p.E280K|BCL11A_uc010ypj.2_Missense_Mutation_p.E577K|BCL11A_uc002sad.1_Missense_Mutation_p.E459K|BCL11A_uc002saf.1_Missense_Mutation_p.E577K NM_022893 NP_075044 Q9H165 BC11A_HUMAN Homo sapiens B-cell CLL/lymphoma 11A (zinc finger protein) (BCL11A), transcript variant 1, mRNA. 611 negative regulation of axon extension|negative regulation of collateral sprouting|negative regulation of dendrite development|positive regulation of collateral sprouting|positive regulation of neuron projection development|positive regulation of transcription from RNA polymerase II promoter|protein sumoylation|regulation of dendrite development|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus nucleic acid binding|protein heterodimerization activity|protein homodimerization activity|zinc ion binding NS(1)|breast(6)|central_nervous_system(6)|endometrium(4)|kidney(1)|large_intestine(8)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3) 59 LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199) GAGGCCGACTCGCCCGGGGAG 0.662000 T IGH@ B-CLL 16 29 0 0 1 0 0 TRIM46 80128 broad.mit.edu 37 1 155147749 155147749 + Splice_Site SNP G G A TCGA-E3-A3E0-01A-11D-A20C-08 TCGA-E3-A3E0-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc913911-8fc0-4cd6-8ba0-ebdb9cc664d1 6928cbfc-6138-441b-bc97-62a73788ef08 g.chr1:155147749G>A uc001fhw.1 + 2 c.302_splice c.e2+1 KRTCAP2_uc001fho.3_5'Flank|KRTCAP2_uc001fhp.1_5'Flank|TRIM46_uc009wpe.1_Intron|TRIM46_uc010pez.1_Intron|TRIM46_uc001fhq.3_Intron|TRIM46_uc001fhr.3_Intron|TRIM46_uc001fhs.1_Intron|TRIM46_uc001fht.1_Intron|TRIM46_uc010pfa.1_Intron|TRIM46_uc001fhu.1_Intron|TRIM46_uc009wpg.1_Intron|TRIM46_uc009wpf.2_Intron Q7Z4K8 TRI46_HUMAN Homo sapiens tripartite motif containing 46 (TRIM46), mRNA. intracellular zinc ion binding NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 29 all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877) Epithelial(20;6.62e-10)|all cancers(21;2.68e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193) AAAGCTGCAGGTAGCTTGTCT 0.582000 3 47 0 0 1 0 0 COL4A5 1287 broad.mit.edu 37 X 107812034 107812034 + Missense_Mutation SNP G G A rs104886046 TCGA-E3-A3E0-01A-11D-A20C-08 TCGA-E3-A3E0-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc913911-8fc0-4cd6-8ba0-ebdb9cc664d1 6928cbfc-6138-441b-bc97-62a73788ef08 g.chrX:107812034G>A uc022ccg.1 + 5 569 c.367G>A c.(367-369)Gga>Aga p.G123R COL4A5_uc004enz.1_Missense_Mutation_p.G123R NM_033380 NP_203699 P29400 CO4A5_HUMAN Homo sapiens collagen, type IV, alpha 5 (COL4A5), transcript variant 2, mRNA. 123 Triple-helical region. axon guidance collagen type IV extracellular matrix structural constituent|protein binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 99 AGGTATTCCCGGATGCAATGG 0.383000 Alport syndrome with Diffuse Leiomyomatosis 55 104 0 0 1 0 0 TRIM36 55521 broad.mit.edu 37 5 114482788 114482788 + Missense_Mutation SNP G G T TCGA-E3-A3E0-01A-11D-A20C-08 TCGA-E3-A3E0-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc913911-8fc0-4cd6-8ba0-ebdb9cc664d1 6928cbfc-6138-441b-bc97-62a73788ef08 g.chr5:114482788G>T uc003kqs.3 - 2 1111 c.602C>A c.(601-603)cCa>cAa p.P201Q TRIM36_uc011cwc.2_Missense_Mutation_p.P189Q|TRIM36_uc003kqt.3_Missense_Mutation_p.P46Q NM_018700 NP_061170 Q9NQ86 TRI36_HUMAN Homo sapiens tripartite motif containing 36 (TRIM36), transcript variant 1, mRNA. 201 acrosomal vesicle|cytoskeleton ligase activity|zinc ion binding breast(3)|endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 37 all_cancers(142;0.00133)|all_epithelial(76;2.41e-05)|Prostate(80;0.00955)|Ovarian(225;0.0443)|Breast(839;0.195) OV - Ovarian serous cystadenocarcinoma(64;3.62e-08)|Epithelial(69;7.69e-08)|all cancers(49;9.33e-06) GTTAGTAGTTGGACCAACATA 0.328000 15 29 0 0 1 0 0 RAPGEF6 51735 broad.mit.edu 37 5 130769300 130769300 + Missense_Mutation SNP T T A TCGA-E3-A3E0-01A-11D-A20C-08 TCGA-E3-A3E0-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc913911-8fc0-4cd6-8ba0-ebdb9cc664d1 6928cbfc-6138-441b-bc97-62a73788ef08 g.chr5:130769300T>A uc003kvp.2 - 25 4089 c.3947A>T c.(3946-3948)cAt>cTt p.H1316L RAPGEF6_uc003kvo.2_Missense_Mutation_p.H1279L|RAPGEF6_uc010jdi.2_Missense_Mutation_p.H1274L|RAPGEF6_uc010jdj.2_Missense_Mutation_p.H1274L|RAPGEF6_uc003kvn.2_Missense_Mutation_p.H1266L|RAPGEF6_uc003kvm.2_Missense_Mutation_p.H189L NM_016340 NP_057424 Q8TEU7 RPGF6_HUMAN Homo sapiens Rap guanine nucleotide exchange factor (GEF) 6 (RAPGEF6), transcript variant 2, mRNA. 1266 Ser-rich. Ras protein signal transduction|regulation of GTPase activity|regulation of small GTPase mediated signal transduction cytoplasm|plasma membrane GTP-dependent protein binding|Ras GTPase binding|guanyl-nucleotide exchange factor activity breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|skin(1)|stomach(1) 31 KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) Lung(113;0.0721) AATCTCACTATGGCTGGAGTC 0.448000 32 62 0 0 1 0 0 MUC13 56667 broad.mit.edu 37 3 124629312 124629312 + Silent SNP G G T TCGA-E3-A3E0-01A-11D-A20C-08 TCGA-E3-A3E0-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc913911-8fc0-4cd6-8ba0-ebdb9cc664d1 6928cbfc-6138-441b-bc97-62a73788ef08 g.chr3:124629312G>T uc003ehq.2 - 9 1323 c.1284C>A c.(1282-1284)atC>atA p.I428I NM_033049 NP_149038 Q9H3R2 MUC13_HUMAN Homo sapiens mucin 13, cell surface associated (MUC13), mRNA. 428 extracellular region|integral to membrane|plasma membrane breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(5)|prostate(1)|skin(1)|stomach(1) 18 CAATGCCAGCGATGGTGCCCA 0.403000 22 103 0 0 1 0 0