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 TTC13 79573 broad.mit.edu 37 1 231069565 231069565 + Missense_Mutation SNP C C A TCGA-G9-6329-01A-13D-1961-08 TCGA-G9-6329-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx da75b98c-dc27-4169-b36b-136c6fbd2afe 9586dcd1-086c-4204-b6f8-2fd2965f1c22 g.chr1:231069565C>A ENST00000366661.4 - 9 950 c.943G>T c.(943-945)Gac>Tac p.D315Y TTC13_ENST00000366662.4_Missense_Mutation_p.D262Y|TTC13_ENST00000414259.1_Missense_Mutation_p.D262Y NM_024525.4 NP_078801.3 Q8NBP0 TTC13_HUMAN tetratricopeptide repeat domain 13 315 binding central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(2) 39 Breast(184;0.0871)|Ovarian(103;0.183) Prostate(94;0.167) COAD - Colon adenocarcinoma(196;0.243) TCAATAAAGTCAACTTTCTGC 0.353 9 98 --- --- --- --- RAB3GAP1 22930 broad.mit.edu 37 2 135870798 135870798 + Missense_Mutation SNP T T G TCGA-G9-6329-01A-13D-1961-08 TCGA-G9-6329-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx da75b98c-dc27-4169-b36b-136c6fbd2afe 9586dcd1-086c-4204-b6f8-2fd2965f1c22 g.chr2:135870798T>G ENST00000264158.8 + 6 483 c.440T>G c.(439-441)cTt>cGt p.L147R RAB3GAP1_ENST00000442034.1_Missense_Mutation_p.L147R|RAB3GAP1_ENST00000487003.1_3'UTR|RAB3GAP1_ENST00000539493.1_Missense_Mutation_p.L103R NM_012233.2 NP_036365.1 Q15042 RB3GP_HUMAN RAB3 GTPase activating protein subunit 1 (catalytic) 147 centrosome|nucleus|soluble fraction Rab GTPase activator activity|Rab GTPase binding breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(10)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1) 32 BRCA - Breast invasive adenocarcinoma(221;0.117) AAGTGCAACCTTCTTCTGAGT 0.398 16 111 --- --- --- --- THSD7B 80731 broad.mit.edu 37 2 137814555 137814555 + Silent SNP G G T TCGA-G9-6329-01A-13D-1961-08 TCGA-G9-6329-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx da75b98c-dc27-4169-b36b-136c6fbd2afe 9586dcd1-086c-4204-b6f8-2fd2965f1c22 g.chr2:137814555G>T ENST00000409968.1 + 3 883 c.705G>T c.(703-705)ggG>ggT p.G235G THSD7B_ENST00000413152.2_Silent_p.G204G|THSD7B_ENST00000543459.1_Silent_p.G94G|THSD7B_ENST00000272643.3_Silent_p.G235G thrombospondin, type I, domain containing 7B NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3) 134 BRCA - Breast invasive adenocarcinoma(221;0.19) GTCCTCTTGGGGAAGAGGAAT 0.463 32 254 --- --- --- --- CARF 79800 broad.mit.edu 37 2 203839140 203839140 + Missense_Mutation SNP T T C TCGA-G9-6329-01A-13D-1961-08 TCGA-G9-6329-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx da75b98c-dc27-4169-b36b-136c6fbd2afe 9586dcd1-086c-4204-b6f8-2fd2965f1c22 g.chr2:203839140T>C ENST00000402905.3 + 12 1736 c.1415T>C c.(1414-1416)aTa>aCa p.I472T CARF_ENST00000414439.1_Missense_Mutation_p.I370T|CARF_ENST00000320443.8_Missense_Mutation_p.I472T|CARF_ENST00000545262.1_Missense_Mutation_p.I396T|CARF_ENST00000545253.1_Missense_Mutation_p.I384T|WDR12_ENST00000477723.1_Intron|CARF_ENST00000428585.1_Missense_Mutation_p.I396T|CARF_ENST00000438828.2_Missense_Mutation_p.I472T NM_001104586.1|NM_001282910.1|NM_001282911.1|NM_001282912.1 NP_001098056.1|NP_001269839.1|NP_001269840.1|NP_001269841.1 calcium responsive transcription factor GTAAATGATATAAAAAATCAC 0.328 8 65 --- --- --- --- ATIC 471 broad.mit.edu 37 2 216177305 216177305 + Missense_Mutation SNP G G A TCGA-G9-6329-01A-13D-1961-08 TCGA-G9-6329-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx da75b98c-dc27-4169-b36b-136c6fbd2afe 9586dcd1-086c-4204-b6f8-2fd2965f1c22 g.chr2:216177305G>A ENST00000435675.1 + 1 492 c.101G>A c.(100-102)gGa>gAa p.G34E ATIC_ENST00000540518.1_5'UTR|ATIC_ENST00000236959.9_Missense_Mutation_p.G35E P31939 PUR9_HUMAN 5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase 35 IMP biosynthetic process|purine base metabolic process cytosol IMP cyclohydrolase activity|phosphoribosylaminoimidazolecarboxamide formyltransferase activity|protein homodimerization activity ATIC/ALK(24) large_intestine(2)|lung(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 8 Renal(323;0.229) Epithelial(149;2.02e-06)|all cancers(144;0.000316)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.0097) Tetrahydrofolic acid(DB00116) GTCGCTTCCGGAGGGACTGCA 0.473 T ALK ALCL 20 84 --- --- --- --- ZBTB11 27107 broad.mit.edu 37 3 101384241 101384241 + Nonsense_Mutation SNP G G C TCGA-G9-6329-01A-13D-1961-08 TCGA-G9-6329-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx da75b98c-dc27-4169-b36b-136c6fbd2afe 9586dcd1-086c-4204-b6f8-2fd2965f1c22 g.chr3:101384241G>C ENST00000312938.4 - 4 1770 c.1190C>G c.(1189-1191)tCa>tGa p.S397* NM_014415.3 NP_055230.2 O95625 ZBT11_HUMAN zinc finger and BTB domain containing 11 397 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 37 TCCTACTGATGACAGGGCAGA 0.438 13 106 --- --- --- --- EDNRA 1909 broad.mit.edu 37 4 148407185 148407185 + Silent SNP C C T TCGA-G9-6329-01A-13D-1961-08 TCGA-G9-6329-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx da75b98c-dc27-4169-b36b-136c6fbd2afe 9586dcd1-086c-4204-b6f8-2fd2965f1c22 g.chr4:148407185C>T ENST00000324300.5 + 2 867 c.352C>T c.(352-354)Ctg>Ttg p.L118L EDNRA_ENST00000511804.1_Intron|EDNRA_ENST00000339690.5_Silent_p.L118L|EDNRA_ENST00000358556.4_Silent_p.L118L|EDNRA_ENST00000506066.1_Silent_p.L118L NM_001957.3 NP_001948.1 P25101 EDNRA_HUMAN endothelin receptor type A 118 activation of adenylate cyclase activity|artery smooth muscle contraction|cell proliferation|glucose transport|respiratory gaseous exchange integral to plasma membrane endothelin-A receptor activity|phosphatidylinositol phospholipase C activity breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(4)|lung(3)|ovary(1) 17 all_hematologic(180;0.151) GBM - Glioblastoma multiforme(119;0.154) Bosentan(DB00559) CCCCAACGCGCTGATAGCCAG 0.418 15 86 --- --- --- --- WDR17 116966 broad.mit.edu 37 4 177058761 177058761 + Splice_Site SNP A A G TCGA-G9-6329-01A-13D-1961-08 TCGA-G9-6329-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx da75b98c-dc27-4169-b36b-136c6fbd2afe 9586dcd1-086c-4204-b6f8-2fd2965f1c22 g.chr4:177058761A>G ENST00000393643.2 + 9 1610 c.1358A>G c.(1357-1359)gAg>gGg p.E453G WDR17_ENST00000280190.4_Splice_Site_p.E477G|WDR17_ENST00000508596.1_Splice_Site_p.E453G|WDR17_ENST00000507824.2_Splice_Site_p.E460G NM_170710.4 NP_733828.2 Q8IZU2 WDR17_HUMAN WD repeat domain 17 477 breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(18)|lung(46)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1) 92 Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164) all cancers(43;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232) CGATTTAATGAGGTAAGATTT 0.249 5 52 --- --- --- --- TRIO 7204 broad.mit.edu 37 5 14504503 14504503 + Splice_Site SNP G G A TCGA-G9-6329-01A-13D-1961-08 TCGA-G9-6329-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx da75b98c-dc27-4169-b36b-136c6fbd2afe 9586dcd1-086c-4204-b6f8-2fd2965f1c22 g.chr5:14504503G>A ENST00000344204.4 + 55 8437 c.8413G>A c.(8413-8415)Ggc>Agc p.G2805S TRIO_ENST00000344135.5_Splice_Site_p.G304S|TRIO_ENST00000537187.1_Splice_Site_p.G2629S NM_007118.2 NP_009049.2 O75962 TRIO_HUMAN trio Rho guanine nucleotide exchange factor 2805 Protein kinase. apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway cytosol ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4) 118 Lung NSC(4;0.000742) ATTTTACAGGGGCAGATTCTC 0.502 6 85 --- --- --- --- NMUR2 56923 broad.mit.edu 37 5 151784352 151784352 + Missense_Mutation SNP C C T TCGA-G9-6329-01A-13D-1961-08 TCGA-G9-6329-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx da75b98c-dc27-4169-b36b-136c6fbd2afe 9586dcd1-086c-4204-b6f8-2fd2965f1c22 g.chr5:151784352C>T ENST00000255262.3 - 1 488 c.323G>A c.(322-324)cGc>cAc p.R108H NMUR2_ENST00000518933.1_Intron NM_020167.4 NP_064552.3 Q9GZQ4 NMUR2_HUMAN neuromedin U receptor 2 108 activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|arachidonic acid secretion|calcium ion transport|central nervous system development|elevation of cytosolic calcium ion concentration|regulation of smooth muscle contraction integral to membrane|plasma membrane GTP binding|intracellular calcium activated chloride channel activity|neuromedin U receptor activity breast(1)|endometrium(1)|kidney(2)|large_intestine(12)|liver(1)|lung(15)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1) 44 Medulloblastoma(196;0.091)|all_hematologic(541;0.103) Kidney(363;0.000106)|KIRC - Kidney renal clear cell carcinoma(527;0.000672) AGGGTAGTTGCGCCACATCTC 0.587 19 149 --- --- --- --- MDN1 23195 broad.mit.edu 37 6 90426386 90426386 + Silent SNP G G A TCGA-G9-6329-01A-13D-1961-08 TCGA-G9-6329-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx da75b98c-dc27-4169-b36b-136c6fbd2afe 9586dcd1-086c-4204-b6f8-2fd2965f1c22 g.chr6:90426386G>A ENST00000369393.3 - 44 6841 c.6726C>T c.(6724-6726)gaC>gaT p.D2242D MDN1_ENST00000428876.1_Silent_p.D2242D Q9NU22 MDN1_HUMAN MDN1, midasin homolog (yeast) 2242 protein complex assembly|regulation of protein complex assembly nucleus ATP binding|ATPase activity|unfolded protein binding NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2) 218 all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246) BRCA - Breast invasive adenocarcinoma(108;0.0193) AGTTAACATTGTCCATCAGAA 0.463 8 51 --- --- --- --- CCDC129 223075 broad.mit.edu 37 7 31617858 31617858 + Missense_Mutation SNP A A G TCGA-G9-6329-01A-13D-1961-08 TCGA-G9-6329-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx da75b98c-dc27-4169-b36b-136c6fbd2afe 9586dcd1-086c-4204-b6f8-2fd2965f1c22 g.chr7:31617858A>G ENST00000409210.1 + 6 888 c.704A>G c.(703-705)tAt>tGt p.Y235C CCDC129_ENST00000407970.3_Missense_Mutation_p.Y327C|CCDC129_ENST00000319386.3_Intron|CCDC129_ENST00000451887.2_Missense_Mutation_p.Y353C Q6ZRS4 CC129_HUMAN coiled-coil domain containing 129 327 cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(31) 44 TTGCTACCTTATCCTCCTCAT 0.512 9 75 --- --- --- --- CCAR2 57805 broad.mit.edu 37 8 22472959 22472959 + Silent SNP G G A TCGA-G9-6329-01A-13D-1961-08 TCGA-G9-6329-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx da75b98c-dc27-4169-b36b-136c6fbd2afe 9586dcd1-086c-4204-b6f8-2fd2965f1c22 g.chr8:22472959G>A ENST00000308511.4 + 12 1476 c.1227G>A c.(1225-1227)caG>caA p.Q409Q CCAR2_ENST00000389279.3_Silent_p.Q409Q|RP11-582J16.5_ENST00000521025.1_RNA|CCAR2_ENST00000520861.1_Silent_p.Q84Q cell cycle and apoptosis regulator 2 409 CCGAGTTTCAGTACCTGCAGC 0.582 30 132 --- --- --- --- CHD7 55636 broad.mit.edu 37 8 61736563 61736563 + Missense_Mutation SNP G G T rs41272440 TCGA-G9-6329-01A-13D-1961-08 TCGA-G9-6329-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx da75b98c-dc27-4169-b36b-136c6fbd2afe 9586dcd1-086c-4204-b6f8-2fd2965f1c22 g.chr8:61736563G>T ENST00000423902.2 + 13 3845 c.3366G>T c.(3364-3366)aaG>aaT p.K1122N CHD7_ENST00000525508.1_Missense_Mutation_p.K1122N|CHD7_ENST00000524602.1_Intron NM_017780.3 NP_060250.2 Q9P2D1 CHD7_HUMAN chromodomain helicase DNA binding protein 7 1122 Helicase ATP-binding. central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent nucleus ATP binding|chromatin binding|DNA binding|helicase activity NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3) 123 all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477) BRCA - Breast invasive adenocarcinoma(89;0.143) AGGGACTCAAGATGATGGACT 0.468 6 129 --- --- --- --- CHD7 55636 broad.mit.edu 37 8 61736570 61736570 + Missense_Mutation SNP G G T TCGA-G9-6329-01A-13D-1961-08 TCGA-G9-6329-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx da75b98c-dc27-4169-b36b-136c6fbd2afe 9586dcd1-086c-4204-b6f8-2fd2965f1c22 g.chr8:61736570G>T ENST00000423902.2 + 13 3852 c.3373G>T c.(3373-3375)Gac>Tac p.D1125Y CHD7_ENST00000525508.1_Missense_Mutation_p.D1125Y|CHD7_ENST00000524602.1_Intron NM_017780.3 NP_060250.2 Q9P2D1 CHD7_HUMAN chromodomain helicase DNA binding protein 7 1125 Helicase ATP-binding. central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent nucleus ATP binding|chromatin binding|DNA binding|helicase activity NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3) 123 all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477) BRCA - Breast invasive adenocarcinoma(89;0.143) CAAGATGATGGACTTGGTCAG 0.463 6 120 --- --- --- --- CHD7 55636 broad.mit.edu 37 8 61736614 61736614 + Nonstop_Mutation SNP G G C TCGA-G9-6329-01A-13D-1961-08 TCGA-G9-6329-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx da75b98c-dc27-4169-b36b-136c6fbd2afe 9586dcd1-086c-4204-b6f8-2fd2965f1c22 g.chr8:61736614G>C ENST00000525508.1 + 12 3417 c.3417G>C c.(3415-3417)taG>taC p.*1139Y CHD7_ENST00000524602.1_Intron|CHD7_ENST00000423902.2_Intron Q9P2D1 CHD7_HUMAN chromodomain helicase DNA binding protein 7 0 Helicase ATP-binding. central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent nucleus ATP binding|chromatin binding|DNA binding|helicase activity NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3) 123 all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477) BRCA - Breast invasive adenocarcinoma(89;0.143) AACCTGAATAGAATTGTTGCT 0.423 6 81 --- --- --- --- PIPSL 266971 broad.mit.edu 37 10 95719791 95719791 + RNA SNP C C A TCGA-G9-6329-01A-13D-1961-08 TCGA-G9-6329-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx da75b98c-dc27-4169-b36b-136c6fbd2afe 9586dcd1-086c-4204-b6f8-2fd2965f1c22 g.chr10:95719791C>A ENST00000480546.1 - 0 1506 NR_002319.2 TCAGGACAACCAAGGTGAACA 0.507 6 24 --- --- --- --- PKD2L1 9033 broad.mit.edu 37 10 102048747 102048747 + Nonsense_Mutation SNP G G A TCGA-G9-6329-01A-13D-1961-08 TCGA-G9-6329-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx da75b98c-dc27-4169-b36b-136c6fbd2afe 9586dcd1-086c-4204-b6f8-2fd2965f1c22 g.chr10:102048747G>A ENST00000318222.3 - 15 2699 c.2317C>T c.(2317-2319)Cag>Tag p.Q773* PKD2L1_ENST00000353274.3_Intron|PKD2L1_ENST00000338519.3_Nonsense_Mutation_p.Q698* NM_001253837.1|NM_016112.2 NP_001240766.1|NP_057196.2 Q9P0L9 PK2L1_HUMAN polycystic kidney disease 2-like 1 773 signal transduction integral to membrane calcium activated cation channel activity|calcium ion binding|cytoskeletal protein binding NS(2)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1) 43 Colorectal(252;0.117) Epithelial(162;6.15e-10)|all cancers(201;5.14e-08) TGCCCACCCTGGACTCCCCAG 0.602 15 90 --- --- --- --- ERN2 10595 broad.mit.edu 37 16 23716455 23716455 + Silent SNP C C T TCGA-G9-6329-01A-13D-1961-08 TCGA-G9-6329-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx da75b98c-dc27-4169-b36b-136c6fbd2afe 9586dcd1-086c-4204-b6f8-2fd2965f1c22 g.chr16:23716455C>T ENST00000256797.4 - 8 915 c.747G>A c.(745-747)ctG>ctA p.L249L ERN2_ENST00000457008.2_Silent_p.L201L NM_033266.3 NP_150296.3 Q76MJ5 ERN2_HUMAN endoplasmic reticulum to nucleus signaling 2 201 apoptosis|induction of apoptosis|mRNA processing|negative regulation of transcription, DNA-dependent|rRNA catabolic process|transcription, DNA-dependent endoplasmic reticulum membrane|integral to membrane ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding|protein serine/threonine kinase activity large_intestine(2)|lung(2)|ovary(2) 6 GBM - Glioblastoma multiforme(48;0.0156) CGCAGGACGCCAGGTGGCTCA 0.637 5 50 --- --- --- --- WIPI1 55062 broad.mit.edu 37 17 66425017 66425017 + Missense_Mutation SNP A A C TCGA-G9-6329-01A-13D-1961-08 TCGA-G9-6329-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx da75b98c-dc27-4169-b36b-136c6fbd2afe 9586dcd1-086c-4204-b6f8-2fd2965f1c22 g.chr17:66425017A>C ENST00000262139.5 - 10 1025 c.1026T>G c.(1024-1026)aaT>aaG p.N342K WIPI1_ENST00000589459.1_5'UTR|WIPI1_ENST00000546360.1_Missense_Mutation_p.N260K NM_017983.5 NP_060453.3 Q5MNZ9 WIPI1_HUMAN WD repeat domain, phosphoinositide interacting 1 342 macroautophagy|vesicle targeting, trans-Golgi to endosome autophagic vacuole membrane|clathrin-coated vesicle|cytosol|endosome membrane|PAS complex|pre-autophagosomal structure membrane|trans-Golgi network androgen receptor binding|estrogen receptor binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|skin(2)|upper_aerodigestive_tract(1) 18 GAGGATCCAAATTGTACATAT 0.468 4 56 --- --- --- --- CBX4 8535 broad.mit.edu 37 17 77809099 77809099 + Silent SNP C C T TCGA-G9-6329-01A-13D-1961-08 TCGA-G9-6329-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx da75b98c-dc27-4169-b36b-136c6fbd2afe 9586dcd1-086c-4204-b6f8-2fd2965f1c22 g.chr17:77809099C>T ENST00000269397.4 - 5 519 c.342G>A c.(340-342)aaG>aaA p.K114K CBX4_ENST00000448310.1_3'UTR NM_003655.2 NP_003646.2 O00257 CBX4_HUMAN chromobox homolog 4 114 Interaction with BMI1. anti-apoptosis|chromatin modification|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent Golgi apparatus|PcG protein complex enzyme binding|transcription corepressor activity breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1) 18 OV - Ovarian serous cystadenocarcinoma(97;0.0102)|BRCA - Breast invasive adenocarcinoma(99;0.0224) GCCCCTGGCCCTTCCCCTGCG 0.657 OREG0024799 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 16 127 --- --- --- --- ABHD8 79575 broad.mit.edu 37 19 17411726 17411726 + Missense_Mutation SNP T T C TCGA-G9-6329-01A-13D-1961-08 TCGA-G9-6329-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx da75b98c-dc27-4169-b36b-136c6fbd2afe 9586dcd1-086c-4204-b6f8-2fd2965f1c22 g.chr19:17411726T>C ENST00000247706.3 - 2 939 c.700A>G c.(700-702)Atg>Gtg p.M234V MRPL34_ENST00000595444.1_Intron|MRPL34_ENST00000600434.1_Intron NM_024527.4 NP_078803.4 Q96I13 ABHD8_HUMAN abhydrolase domain containing 8 234 hydrolase activity central_nervous_system(1)|endometrium(1)|kidney(1)|lung(5)|urinary_tract(1) 9 ATTGCTCGCATGTCCTCAGCC 0.617 13 143 --- --- --- --- SSBP4 170463 broad.mit.edu 37 19 18538569 18538569 + Missense_Mutation SNP G G T TCGA-G9-6329-01A-13D-1961-08 TCGA-G9-6329-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx da75b98c-dc27-4169-b36b-136c6fbd2afe 9586dcd1-086c-4204-b6f8-2fd2965f1c22 g.chr19:18538569G>T ENST00000270061.7 + 3 434 c.140G>T c.(139-141)tGg>tTg p.W47L SSBP4_ENST00000348495.6_Missense_Mutation_p.W47L|SSBP4_ENST00000598159.2_3'UTR NM_032627.4 NP_116016.1 Q9BWG4 SSBP4_HUMAN single stranded DNA binding protein 4 LisH. nucleus single-stranded DNA binding endometrium(2)|kidney(1)|skin(1) 4 CAGATCCGATGGGAGAAGAAC 0.662 4 57 --- --- --- --- ZNF675 171392 broad.mit.edu 37 19 23837046 23837046 + Missense_Mutation SNP C C T TCGA-G9-6329-01A-13D-1961-08 TCGA-G9-6329-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx da75b98c-dc27-4169-b36b-136c6fbd2afe 9586dcd1-086c-4204-b6f8-2fd2965f1c22 g.chr19:23837046C>T ENST00000359788.4 - 4 857 c.689G>A c.(688-690)tGt>tAt p.C230Y ZNF675_ENST00000596211.1_Intron|ZNF675_ENST00000600313.1_Intron|ZNF675_ENST00000601935.1_Intron NM_138330.2 NP_612203.2 Q8TD23 ZN675_HUMAN zinc finger protein 675 230 bone resorption|cytokine-mediated signaling pathway|hemopoiesis|I-kappaB kinase/NF-kappaB cascade|negative regulation of JNK cascade|negative regulation of osteoclast differentiation|negative regulation of protein kinase activity|negative regulation of transcription, DNA-dependent|regulation of ossification|transcription, DNA-dependent cytoplasm|nucleus DNA binding|protein binding|zinc ion binding endometrium(3)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 27 all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206) ACATTCTTGACATTTGTAGAG 0.308 12 37 --- --- --- --- RTEL1 51750 broad.mit.edu 37 20 62320908 62320908 + Silent SNP G G T TCGA-G9-6329-01A-13D-1961-08 TCGA-G9-6329-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx da75b98c-dc27-4169-b36b-136c6fbd2afe 9586dcd1-086c-4204-b6f8-2fd2965f1c22 g.chr20:62320908G>T ENST00000318100.4 + 23 2759 c.1932G>T c.(1930-1932)acG>acT p.T644T RTEL1_ENST00000370018.3_Silent_p.T644T|RTEL1-TNFRSF6B_ENST00000482936.1_Silent_p.T644T|RTEL1_ENST00000360203.5_Silent_p.T644T|RTEL1_ENST00000508582.2_Silent_p.T668T NM_001283009.1 NP_001269938.1 Q9NZ71 RTEL1_HUMAN regulator of telomere elongation helicase 1 644 DNA repair|regulation of double-strand break repair via homologous recombination|telomere maintenance nucleus ATP binding|ATP-dependent DNA helicase activity|DNA binding|iron-sulfur cluster binding|metal ion binding NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 24 all_cancers(38;6.47e-12)|all_epithelial(29;3.75e-13) Epithelial(9;1.25e-09)|all cancers(9;5.13e-09)|BRCA - Breast invasive adenocarcinoma(10;7.26e-05)|OV - Ovarian serous cystadenocarcinoma(5;0.00223)|Colorectal(105;0.107) TGATTGTCACGGGCCTCCCGT 0.662 3 49 --- --- --- --- NUP50 10762 broad.mit.edu 37 22 45574602 45574602 + Missense_Mutation SNP A A G TCGA-G9-6329-01A-13D-1961-08 TCGA-G9-6329-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx da75b98c-dc27-4169-b36b-136c6fbd2afe 9586dcd1-086c-4204-b6f8-2fd2965f1c22 g.chr22:45574602A>G ENST00000347635.4 + 5 1290 c.824A>G c.(823-825)aAg>aGg p.K275R NUP50_ENST00000396096.2_Missense_Mutation_p.K247R|NUP50_ENST00000407019.2_Missense_Mutation_p.K247R|NUP50_ENST00000425733.2_Missense_Mutation_p.K25R NM_007172.3 NP_009103.2 Q9UKX7 NUP50_HUMAN nucleoporin 50kDa 5 X 2 AA repeats of F-G.|Ser-rich. carbohydrate metabolic process|glucose transport|intracellular transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction nuclear membrane|nuclear pore|nucleoplasm protein binding endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)|upper_aerodigestive_tract(1) 9 Ovarian(80;0.00965)|all_neural(38;0.0244) UCEC - Uterine corpus endometrioid carcinoma (28;0.0178) AATTTCGGCAAGAAAGTTGAT 0.438 3 20 --- --- --- ---