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 ZNF733P 643955 broad.mit.edu 37 7 62752443 62752443 + RNA SNP G G C TCGA-CR-7391-01A-11D-2012-08 TCGA-CR-7391-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7236609c-34dd-425a-b882-2dff36983f7b d00e373a-4fb4-42e6-b71e-a61bad73e27e g.chr7:62752443G>C ENST00000331425.6 - 0 992 NR_003952.1 CTTATGTCTAGTAAGGTTTGA 0.438000 3 26 0 0 6.4e-05 0 0 ECE2 9718 broad.mit.edu 37 3 184009925 184009925 + Missense_Mutation SNP C C T TCGA-CR-7391-01A-11D-2012-08 TCGA-CR-7391-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7236609c-34dd-425a-b882-2dff36983f7b d00e373a-4fb4-42e6-b71e-a61bad73e27e g.chr3:184009925C>T ENST00000402825.3 + 19 2551 c.2551C>T c.(2551-2553)Cgc>Tgc p.R851C ECE2_ENST00000357474.5_Missense_Mutation_p.R779C|EIF2B5_ENST00000444495.1_Intron|ECE2_ENST00000359140.4_Missense_Mutation_p.R704C|ECE2_ENST00000404464.3_Missense_Mutation_p.R733C NM_014693.3 NP_055508.3 O60344 ECE2_HUMAN endothelin converting enzyme 2 851 Endothelin-converting enzyme 2 region. brain development|cardioblast differentiation|cell-cell signaling|peptide hormone processing cytoplasmic vesicle membrane|Golgi membrane|integral to membrane metal ion binding|metalloendopeptidase activity|methyltransferase activity p.R779C(1)|p.R704C(1)|p.R851C(1) breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(13)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(4) 49 all_cancers(143;1.39e-10)|Ovarian(172;0.0339) Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22) TGCCCGCTTCCGCGTGCTGGG 0.677000 8 61 0 0 0.000157383 0 0 OR14I1 401994 broad.mit.edu 37 1 248844912 248844912 + Nonsense_Mutation SNP G G A TCGA-CR-7391-01A-11D-2012-08 TCGA-CR-7391-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7236609c-34dd-425a-b882-2dff36983f7b d00e373a-4fb4-42e6-b71e-a61bad73e27e g.chr1:248844912G>A ENST00000342623.3 - 1 717 c.694C>T c.(694-696)Cga>Tga p.R232* NM_001004734.1 NP_001004734.1 A6ND48 O14I1_HUMAN olfactory receptor, family 14, subfamily I, member 1 232 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(4)|large_intestine(2)|lung(24)|skin(1)|stomach(2)|upper_aerodigestive_tract(1) 35 GCTTTTGCTCGACTCTGTCCT 0.493000 5 78 0 0 0.000602214 0 0 RANBP2 5903 broad.mit.edu 37 2 109352601 109352601 + Silent SNP T T C TCGA-CR-7391-01A-11D-2012-08 TCGA-CR-7391-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7236609c-34dd-425a-b882-2dff36983f7b d00e373a-4fb4-42e6-b71e-a61bad73e27e g.chr2:109352601T>C ENST00000283195.6 + 6 804 c.678T>C c.(676-678)agT>agC p.S226S NM_006267.4 NP_006258.3 P49792 RBP2_HUMAN RAN binding protein 2 226 carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction cytosol|nuclear pore peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding RANBP2/ALK(34) NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1) 129 CTGATAAAAGTGACTGGCGAG 0.368000 7 269 0 0 8.12818e-05 0 0 EPPK1 83481 broad.mit.edu 37 8 144946714 144946714 + Silent SNP G G A TCGA-CR-7391-01A-11D-2012-08 TCGA-CR-7391-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7236609c-34dd-425a-b882-2dff36983f7b d00e373a-4fb4-42e6-b71e-a61bad73e27e g.chr8:144946714G>A ENST00000525985.1 - 2 779 c.708C>T c.(706-708)cgC>cgT p.R236R P58107 EPIPL_HUMAN epiplakin 1 236 cytoplasm|cytoskeleton protein binding|structural molecule activity NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 71 all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105) CGCCCATGGAGCGGAAGGTGA 0.682000 3 15 0 0 6.4e-05 0 0 RANGAP1 5905 broad.mit.edu 37 22 41652800 41652800 + Missense_Mutation SNP A A C TCGA-CR-7391-01A-11D-2012-08 TCGA-CR-7391-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7236609c-34dd-425a-b882-2dff36983f7b d00e373a-4fb4-42e6-b71e-a61bad73e27e g.chr22:41652800A>C ENST00000455915.2 - 7 2272 c.803T>G c.(802-804)gTg>gGg p.V268G RANGAP1_ENST00000405486.1_Missense_Mutation_p.V268G|RANGAP1_ENST00000407260.4_Missense_Mutation_p.V213G|RANGAP1_ENST00000356244.3_Missense_Mutation_p.V268G P46060 RAGP1_HUMAN Ran GTPase activating protein 1 268 mitotic prometaphase|signal transduction condensed chromosome kinetochore|cytosol|nuclear membrane|nuclear pore|soluble fraction|spindle pole protein binding|Ran GTPase activator activity p.V268G(3) breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 AAAATTAATCACCTCCACCTG 0.637000 5 21 0 0 0.000308642 0 0 ANK3 288 broad.mit.edu 37 10 61835630 61835630 + Missense_Mutation SNP A A G TCGA-CR-7391-01A-11D-2012-08 TCGA-CR-7391-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7236609c-34dd-425a-b882-2dff36983f7b d00e373a-4fb4-42e6-b71e-a61bad73e27e g.chr10:61835630A>G ENST00000280772.1 - 37 5200 c.5009T>C c.(5008-5010)cTa>cCa p.L1670P ANK3_ENST00000503366.1_Intron|ANK3_ENST00000355288.2_Intron|ANK3_ENST00000373827.2_Intron NM_020987.3 NP_066267.2 Q12955 ANK3_HUMAN ankyrin 3, node of Ranvier (ankyrin G) 1670 Ser-rich. establishment of protein localization|signal transduction basolateral plasma membrane|cytoplasm|cytoskeleton protein binding NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7) 196 TGAAGATATTAGCGGTGCTGC 0.388000 3 84 0 0 6.4e-05 0 0 TEX15 56154 broad.mit.edu 37 8 30701885 30701885 + Missense_Mutation SNP T T A TCGA-CR-7391-01A-11D-2012-08 TCGA-CR-7391-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7236609c-34dd-425a-b882-2dff36983f7b d00e373a-4fb4-42e6-b71e-a61bad73e27e g.chr8:30701885T>A ENST00000256246.2 - 1 4723 c.4649A>T c.(4648-4650)gAc>gTc p.D1550V NM_031271.3 NP_112561.2 Q9BXT5 TEX15_HUMAN testis expressed 15 1550 NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1) 138 KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111) AGACTGCGAGTCTTTACTAAC 0.383000 8 126 0 0 0.000157383 0 0 ATAD5 79915 broad.mit.edu 37 17 29162940 29162940 + Missense_Mutation SNP C C G TCGA-CR-7391-01A-11D-2012-08 TCGA-CR-7391-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7236609c-34dd-425a-b882-2dff36983f7b d00e373a-4fb4-42e6-b71e-a61bad73e27e g.chr17:29162940C>G ENST00000321990.4 + 2 2219 c.1841C>G c.(1840-1842)tCt>tGt p.S614C CTD-2349P21.11_ENST00000580873.1_RNA NM_024857.3 NP_079133.3 Q96QE3 ATAD5_HUMAN ATPase family, AAA domain containing 5 614 response to DNA damage stimulus nucleus ATP binding|nucleoside-triphosphatase activity breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(18)|lung(13)|ovary(3)|pancreas(1) 51 all_hematologic(16;0.0202)|Acute lymphoblastic leukemia(14;0.0238)|Myeloproliferative disorder(56;0.0393) GGTATTGATTCTGACGATGTA 0.393000 6 64 0 0 0.00116845 0 0 HCAR3 8843 broad.mit.edu 37 12 123200861 123200861 + Missense_Mutation SNP A A G TCGA-CR-7391-01A-11D-2012-08 TCGA-CR-7391-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7236609c-34dd-425a-b882-2dff36983f7b d00e373a-4fb4-42e6-b71e-a61bad73e27e g.chr12:123200861A>G ENST00000528880.2 - 1 578 c.424T>C c.(424-426)Tgg>Cgg p.W142R HCAR1_ENST00000356987.2_Intron NM_006018.2 NP_006009.2 P49019 HCAR3_HUMAN hydroxycarboxylic acid receptor 3 142 integral to plasma membrane purinergic nucleotide receptor activity, G-protein coupled endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1) 9 Mepenzolate(DB04843)|Niacin(DB00627) GCTGCTGTCCAATTGGAGATC 0.542000 3 77 0 0 0.00024832 0 0 RRBP1 6238 broad.mit.edu 37 20 17639486 17639486 + Missense_Mutation SNP T T C TCGA-CR-7391-01A-11D-2012-08 TCGA-CR-7391-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7236609c-34dd-425a-b882-2dff36983f7b d00e373a-4fb4-42e6-b71e-a61bad73e27e g.chr20:17639486T>C ENST00000377813.1 - 3 1970 c.1667A>G c.(1666-1668)cAg>cGg p.Q556R RRBP1_ENST00000246043.4_Missense_Mutation_p.Q556R|RRBP1_ENST00000455029.2_Intron|RRBP1_ENST00000377807.2_Intron|RRBP1_ENST00000360807.4_Intron Q9P2E9 RRBP1_HUMAN ribosome binding protein 1 556 41 X 10 AA approximate tandem repeats of [TN]-Q-[GSA]-[KRQT]-K-[ATGSV]-[ED]- [GTAS]-[ATIS]-[PQTAS]. protein transport|translation|transmembrane transport integral to endoplasmic reticulum membrane|ribosome receptor activity breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|prostate(6) 28 CTTTGTGCCCTGATTAGCAAC 0.522000 3 139 0 0 0.00024832 0 0 SERPING1 710 broad.mit.edu 37 11 57382046 57382046 + Missense_Mutation SNP A A G TCGA-CR-7391-01A-11D-2012-08 TCGA-CR-7391-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7236609c-34dd-425a-b882-2dff36983f7b d00e373a-4fb4-42e6-b71e-a61bad73e27e g.chr11:57382046A>G ENST00000403558.1 + 7 1990 c.1624A>G c.(1624-1626)Agg>Ggg p.R542G SERPING1_ENST00000378324.2_Missense_Mutation_p.R447G|SERPING1_ENST00000278407.4_Missense_Mutation_p.R499G|SERPING1_ENST00000378323.4_Missense_Mutation_p.R504G|SERPING1_ENST00000340687.6_Missense_Mutation_p.R462G NM_001032295.1 NP_001027466.1 P05155 IC1_HUMAN serpin peptidase inhibitor, clade G (C1 inhibitor), member 1 499 blood circulation|blood coagulation, intrinsic pathway|complement activation, classical pathway|innate immune response|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation extracellular space|platelet alpha granule lumen protein binding|serine-type endopeptidase inhibitor activity central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(11)|pancreas(2)|prostate(1)|urinary_tract(1) 27 ATATGACCCCAGGGCCTGAGA 0.622000 3 31 0 0 6.4e-05 0 0 PTPRT 11122 broad.mit.edu 37 20 40727119 40727119 + Missense_Mutation SNP A A G TCGA-CR-7391-01A-11D-2012-08 TCGA-CR-7391-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7236609c-34dd-425a-b882-2dff36983f7b d00e373a-4fb4-42e6-b71e-a61bad73e27e g.chr20:40727119A>G ENST00000373198.3 - 28 4089 c.3854T>C c.(3853-3855)cTg>cCg p.L1285P PTPRT_ENST00000373184.1_Missense_Mutation_p.L1273P|PTPRT_ENST00000373190.1_Missense_Mutation_p.L1262P|PTPRT_ENST00000373193.3_Missense_Mutation_p.L1266P|PTPRT_ENST00000356100.2_Missense_Mutation_p.L1272P|PTPRT_ENST00000373187.1_Missense_Mutation_p.L1263P|PTPRT_ENST00000373201.1_Missense_Mutation_p.L1253P NM_133170.3 NP_573400.3 O14522 PTPRT_HUMAN protein tyrosine phosphatase, receptor type, T 1263 Tyrosine-protein phosphatase 2. homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway cell surface|integral to membrane|plasma membrane alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 176 Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783) ATCGAACACCAGCCTCCAGAA 0.592000 3 67 0 0 6.4e-05 0 0 MORC4 79710 broad.mit.edu 37 X 106186359 106186359 + Missense_Mutation SNP G G C TCGA-CR-7391-01A-11D-2012-08 TCGA-CR-7391-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7236609c-34dd-425a-b882-2dff36983f7b d00e373a-4fb4-42e6-b71e-a61bad73e27e g.chrX:106186359G>C ENST00000355610.4 - 15 2036 c.1762C>G c.(1762-1764)Cta>Gta p.L588V MORC4_ENST00000535534.1_Missense_Mutation_p.L336V|MORC4_ENST00000255495.7_Missense_Mutation_p.L588V NM_001085354.2|NM_024657.4 NP_001078823.1|NP_078933.3 Q8TE76 MORC4_HUMAN MORC family CW-type zinc finger 4 588 ATP binding|zinc ion binding endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 28 GAATAATCTAGAGAAGGTGTT 0.453000 8 154 0 0 0.000274275 0 0 SEC22B 9554 broad.mit.edu 37 1 145109975 145109976 + RNA INS - - C rs67257307 TCGA-CR-7391-01A-11D-2012-08 TCGA-CR-7391-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7236609c-34dd-425a-b882-2dff36983f7b d00e373a-4fb4-42e6-b71e-a61bad73e27e g.chr1:145109975_145109976insC ENST00000453618.1 + 0 673 O75396 SC22B_HUMAN SEC22 vesicle trafficking protein homolog B (S. cerevisiae) (gene/pseudogene) ER to Golgi vesicle-mediated transport|protein transport endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane|melanosome protein binding CAGGAACTTTGCTAAAGATCTA 0.386 3 3 --- --- --- --- C8orf58 541565 broad.mit.edu 37 8 22459568 22459570 + In_Frame_Del DEL GCT GCT - TCGA-CR-7391-01A-11D-2012-08 TCGA-CR-7391-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7236609c-34dd-425a-b882-2dff36983f7b d00e373a-4fb4-42e6-b71e-a61bad73e27e g.chr8:22459568_22459570delGCT ENST00000409586.3 + 4 861_863 c.741_743delGCT c.(739-744)gag>ga p.EL247del C8orf58_ENST00000289989.5_In_Frame_Del_p.EL247del NM_001013842.2|NM_001198827.1|NM_173686.2 NP_001013864.1|NP_001185756.1|NP_775957.2 Q8NAV2 CH058_HUMAN chromosome 8 open reading frame 58 247 endometrium(1)|lung(1)|ovary(1)|skin(1) 4 Prostate(55;0.0421)|Breast(100;0.102)|all_epithelial(46;0.142) BRCA - Breast invasive adenocarcinoma(99;0.00563)|Colorectal(74;0.0145)|COAD - Colon adenocarcinoma(73;0.0608) GGCCATGGGAGCTGCTAAGCCAG 0.640 6 5 --- --- --- --- HNRNPKP3 399881 broad.mit.edu 37 11 43283606 43283606 + RNA DEL A A - TCGA-CR-7391-01A-11D-2012-08 TCGA-CR-7391-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7236609c-34dd-425a-b882-2dff36983f7b d00e373a-4fb4-42e6-b71e-a61bad73e27e g.chr11:43283606delA ENST00000511537.1 - 0 1329 NR_033868.1 AAGCAAATGTAAAAAAAAAAA 0.388 2 4 --- --- --- ---