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 RSBN1L 222194 broad.mit.edu 37 7 77408178 77408178 + Missense_Mutation SNP C C G TCGA-DK-A1AB-01A-11D-A13W-08 TCGA-DK-A1AB-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f0fb2ba-0351-4ce0-8b74-31aa3deecae1 6bb1a3eb-1659-4df1-935d-f8b2d710ace4 g.chr7:77408178C>G ENST00000334955.8 + 8 2261 c.2234C>G c.(2233-2235)tCt>tGt p.S745C RSBN1L_ENST00000445288.1_Missense_Mutation_p.S475C NM_198467.2 NP_940869.2 Q6PCB5 RSBNL_HUMAN round spermatid basic protein 1-like nucleus p.S745C(1) central_nervous_system(1)|endometrium(12)|large_intestine(2)|lung(8)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 30 AAACTTCATTCTAAATATGAA 0.363000 35 85 0 0 0.050027 0 0 CDYL2 124359 broad.mit.edu 37 16 80666970 80666970 + Missense_Mutation SNP G G T TCGA-DK-A1AB-01A-11D-A13W-08 TCGA-DK-A1AB-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f0fb2ba-0351-4ce0-8b74-31aa3deecae1 6bb1a3eb-1659-4df1-935d-f8b2d710ace4 g.chr16:80666970G>T ENST00000570137.2 - 3 935 c.780C>A c.(778-780)ttC>ttA p.F260L CDYL2_ENST00000566173.1_Missense_Mutation_p.F261L|CDYL2_ENST00000562812.1_Missense_Mutation_p.F261L|CDYL2_ENST00000563890.1_Missense_Mutation_p.F261L NM_152342.2 NP_689555.2 Q8N8U2 CDYL2_HUMAN chromodomain protein, Y-like 2 nucleus catalytic activity|protein binding p.F260L(1) breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)|pancreas(1)|urinary_tract(1) 21 GGATGTGCGTGAACCCTTCTT 0.552000 31 85 5.45727e-16 5.97793e-16 0.134883 1 0 TTN 7273 broad.mit.edu 37 2 179604510 179604510 + Missense_Mutation SNP C C T TCGA-DK-A1AB-01A-11D-A13W-08 TCGA-DK-A1AB-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f0fb2ba-0351-4ce0-8b74-31aa3deecae1 6bb1a3eb-1659-4df1-935d-f8b2d710ace4 g.chr2:179604510C>T ENST00000589042.1 - 48 13674 c.13450G>A c.(13450-13452)Gaa>Aaa p.E4484K TTN_ENST00000591111.1_Missense_Mutation_p.E4167K|TTN_ENST00000359218.5_Missense_Mutation_p.E4246K|TTN_ENST00000460472.2_Missense_Mutation_p.E4121K|TTN_ENST00000342175.6_Missense_Mutation_p.E4313K|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN-AS1_ENST00000582847.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 4167 Ig-like 25. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity p.E4246K(1) NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) ATGTCTATTTCCTCATATATA 0.378000 62 282 0 0 0.139131 0 0 FGF3 2248 broad.mit.edu 37 11 69625371 69625371 + Missense_Mutation SNP G G C TCGA-DK-A1AB-01A-11D-A13W-08 TCGA-DK-A1AB-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f0fb2ba-0351-4ce0-8b74-31aa3deecae1 6bb1a3eb-1659-4df1-935d-f8b2d710ace4 g.chr11:69625371G>C ENST00000334134.2 - 3 512 c.422C>G c.(421-423)cCt>cGt p.P141R NM_005247.2 NP_005238.1 P11487 FGF3_HUMAN fibroblast growth factor 3 141 fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|negative regulation of cardiac muscle tissue development|positive regulation of cell division|positive regulation of cell proliferation extracellular region growth factor activity p.P141R(1) endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|urinary_tract(1) 13 LUSC - Lung squamous cell carcinoma(11;5.05e-15)|STAD - Stomach adenocarcinoma(18;0.0278) GCGGGCCCCAGGCGTACTAGA 0.657000 14 9 0 0 0.105934 0 0 MTHFR 4524 broad.mit.edu 37 1 11861287 11861287 + Missense_Mutation SNP C C T TCGA-DK-A1AB-01A-11D-A13W-08 TCGA-DK-A1AB-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f0fb2ba-0351-4ce0-8b74-31aa3deecae1 6bb1a3eb-1659-4df1-935d-f8b2d710ace4 g.chr1:11861287C>T ENST00000376592.1 - 2 534 c.406G>A c.(406-408)Gag>Aag p.E136K MTHFR_ENST00000376590.3_Missense_Mutation_p.E136K|MTHFR_ENST00000376583.3_Missense_Mutation_p.E177K|MTHFR_ENST00000376585.1_Missense_Mutation_p.E177K P42898 MTHR_HUMAN methylenetetrahydrofolate reductase (NAD(P)H) 136 blood circulation|folic acid metabolic process cytosol methylenetetrahydrofolate reductase (NADPH) activity|protein binding p.E136K(1) NS(4)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(6)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 33 Ovarian(185;0.249) Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00826)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.66e-06)|COAD - Colon adenocarcinoma(227;0.000261)|BRCA - Breast invasive adenocarcinoma(304;0.000304)|Kidney(185;0.000777)|KIRC - Kidney renal clear cell carcinoma(229;0.00261)|STAD - Stomach adenocarcinoma(313;0.0073)|READ - Rectum adenocarcinoma(331;0.0649) Benazepril(DB00542)|Cyanocobalamin(DB00115)|Folic Acid(DB00158)|L-Methionine(DB00134)|Menadione(DB00170)|Methotrexate(DB00563)|Pyridoxal Phosphate(DB00114)|Pyridoxine(DB00165)|Raltitrexed(DB00293)|Riboflavin(DB00140)|S-Adenosylmethionine(DB00118)|Tetrahydrofolic acid(DB00116) GTGATCTCCTCCAGGCGCTGA 0.612000 17 96 0 0 0.049695 0 0 SHPK 23729 broad.mit.edu 37 17 3494637 3494637 + Nonsense_Mutation SNP G G A TCGA-DK-A1AB-01A-11D-A13W-08 TCGA-DK-A1AB-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f0fb2ba-0351-4ce0-8b74-31aa3deecae1 6bb1a3eb-1659-4df1-935d-f8b2d710ace4 g.chr17:3494637G>A ENST00000572705.1 - 4 569 c.295C>T c.(295-297)Cag>Tag p.Q99* TRPV1_ENST00000399759.3_Nonsense_Mutation_p.Q99*|TRPV1_ENST00000174621.6_Silent_p.P73P|TRPV1_ENST00000310522.5_Nonsense_Mutation_p.Q99*|TRPV1_ENST00000425167.2_Nonsense_Mutation_p.Q99*|TRPV1_ENST00000571088.1_Nonsense_Mutation_p.Q99*|TRPV1_ENST00000399756.4_Nonsense_Mutation_p.Q99*|TRPV1_ENST00000576351.1_Nonsense_Mutation_p.Q99* NM_080704.3 NP_542435.2 Q9UHJ6 SHPK_HUMAN sedoheptulokinase 0 carbohydrate metabolic process cytoplasm ATP binding|sedoheptulokinase activity p.Q99*(2) breast(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 16 COAD - Colon adenocarcinoma(5;0.0828) ACAGAGTCCTGGGACAGCAGC 0.582000 10 12 0 0 0.058154 0 0 TMEM79 84283 broad.mit.edu 37 1 156261349 156261349 + Missense_Mutation SNP C C T TCGA-DK-A1AB-01A-11D-A13W-08 TCGA-DK-A1AB-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f0fb2ba-0351-4ce0-8b74-31aa3deecae1 6bb1a3eb-1659-4df1-935d-f8b2d710ace4 g.chr1:156261349C>T ENST00000405535.2 + 4 1316 c.1145C>T c.(1144-1146)gCc>gTc p.A382V TMEM79_ENST00000295694.5_Missense_Mutation_p.A382V|TMEM79_ENST00000357501.2_Silent_p.R143R|TMEM79_ENST00000495881.1_3'UTR NM_032323.2 NP_115699.1 Q9BSE2 TMM79_HUMAN transmembrane protein 79 382 integral to membrane p.A382V(1) breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(9)|urinary_tract(1) 21 Hepatocellular(266;0.158) CCGGACCACGCCCGCTCGGCC 0.657000 7 37 0 0 0.043863 0 0 NAV2 89797 broad.mit.edu 37 11 19955347 19955347 + Silent SNP G G A TCGA-DK-A1AB-01A-11D-A13W-08 TCGA-DK-A1AB-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f0fb2ba-0351-4ce0-8b74-31aa3deecae1 6bb1a3eb-1659-4df1-935d-f8b2d710ace4 g.chr11:19955347G>A ENST00000396085.1 + 7 1918 c.1557G>A c.(1555-1557)gaG>gaA p.E519E NAV2_ENST00000360655.4_Silent_p.E455E|NAV2_ENST00000396087.3_Silent_p.E542E|NAV2_ENST00000527559.2_Silent_p.E471E|NAV2_ENST00000349880.4_Silent_p.E519E|NAV2_ENST00000540292.1_Silent_p.E473E NM_182964.5 NP_892009.3 Q8IVL1 NAV2_HUMAN neuron navigator 2 542 nucleus ATP binding|helicase activity p.E542E(1) NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 116 TCAAGGAGGAGCCAAAAGAAG 0.537000 23 32 0 0 0.076483 0 0 UNC5D 137970 broad.mit.edu 37 8 35406937 35406937 + Silent SNP G G A TCGA-DK-A1AB-01A-11D-A13W-08 TCGA-DK-A1AB-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f0fb2ba-0351-4ce0-8b74-31aa3deecae1 6bb1a3eb-1659-4df1-935d-f8b2d710ace4 g.chr8:35406937G>A ENST00000287272.2 + 2 251 c.231G>A c.(229-231)gcG>gcA p.A77A UNC5D_ENST00000404895.2_Silent_p.A77A|UNC5D_ENST00000420357.1_Silent_p.A77A|UNC5D_ENST00000453357.2_Silent_p.A72A|UNC5D_ENST00000416672.1_Silent_p.A77A Q6UXZ4 UNC5D_HUMAN unc-5 homolog D (C. elegans) 77 Ig-like. apoptosis|axon guidance integral to membrane receptor activity p.A72A(1) NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2) 112 READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723) GGTGCAAAGCGAGGCCAGCCA 0.512000 12 39 0 0 0.080935 0 0 KIAA1551 55196 broad.mit.edu 37 12 32137616 32137616 + Missense_Mutation SNP G G A TCGA-DK-A1AB-01A-11D-A13W-08 TCGA-DK-A1AB-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f0fb2ba-0351-4ce0-8b74-31aa3deecae1 6bb1a3eb-1659-4df1-935d-f8b2d710ace4 g.chr12:32137616G>A ENST00000312561.4 + 4 4141 c.3727G>A c.(3727-3729)Gat>Aat p.D1243N KIAA1551_ENST00000535596.1_Intron NM_018169.3 NP_060639 KIAA1551 p.D1243N(1) GACTCCTCCAGATGGGAAAAG 0.368000 25 57 0 0 0.083992 0 0 DIRAS3 9077 broad.mit.edu 37 1 68512369 68512369 + Silent SNP G G A TCGA-DK-A1AB-01A-11D-A13W-08 TCGA-DK-A1AB-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f0fb2ba-0351-4ce0-8b74-31aa3deecae1 6bb1a3eb-1659-4df1-935d-f8b2d710ace4 g.chr1:68512369G>A ENST00000370981.1 - 4 1248 c.612C>T c.(610-612)acC>acT p.T204T GNG12-AS1_ENST00000420587.1_RNA|GNG12-AS1_ENST00000413628.1_RNA|DIRAS3_ENST00000395201.1_Silent_p.T204T O95661 DIRA3_HUMAN DIRAS family, GTP-binding RAS-like 3 204 regulation of cyclin-dependent protein kinase activity|regulation of gene expression by genetic imprinting|small GTPase mediated signal transduction plasma membrane GTP binding|GTPase activity p.T204T(1) NS(1)|cervix(1)|endometrium(2)|large_intestine(1)|lung(6)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 14 CCTGGAGGCCGGTGGTGGGCT 0.527000 51 120 0 0 0.139131 0 0 MYO1H 283446 broad.mit.edu 37 12 109876422 109876422 + Missense_Mutation SNP G G A TCGA-DK-A1AB-01A-11D-A13W-08 TCGA-DK-A1AB-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f0fb2ba-0351-4ce0-8b74-31aa3deecae1 6bb1a3eb-1659-4df1-935d-f8b2d710ace4 g.chr12:109876422G>A ENST00000310903.5 + 23 2349 c.2243G>A c.(2242-2244)aGa>aAa p.R748K MYO1H_ENST00000431443.2_Missense_Mutation_p.R758K B4DNW6 B4DNW6_HUMAN myosin IH 0 myosin complex motor activity p.R748K(1) NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(17)|prostate(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 47 CGGATTATCAGAAAGTAAGTT 0.502000 5 10 0 0 0.021553 0 0 PPP2R5D 5528 broad.mit.edu 37 6 42978430 42978430 + Missense_Mutation SNP G G C TCGA-DK-A1AB-01A-11D-A13W-08 TCGA-DK-A1AB-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f0fb2ba-0351-4ce0-8b74-31aa3deecae1 6bb1a3eb-1659-4df1-935d-f8b2d710ace4 g.chr6:42978430G>C ENST00000485511.1 + 14 1689 c.1510G>C c.(1510-1512)Gag>Cag p.E504Q PPP2R5D_ENST00000472118.1_Missense_Mutation_p.E496Q|PPP2R5D_ENST00000461010.1_Missense_Mutation_p.E398Q|PPP2R5D_ENST00000394110.3_Missense_Mutation_p.E472Q NM_001270476.1|NM_006245.3 NP_001257405.1|NP_006236.1 Q14738 2A5D_HUMAN protein phosphatase 2, regulatory subunit B', delta 504 nervous system development|signal transduction cytoplasm|nucleus|protein phosphatase type 2A complex protein binding|protein phosphatase type 2A regulator activity p.E504Q(1) NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1) 25 Colorectal(64;0.00237)|all cancers(41;0.00411)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0664)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188) GGAAAGGGAAGAGATGTGGCA 0.542000 22 38 0 0 0.069288 0 0 NBPF20 100288142 broad.mit.edu 37 1 148342528 148342528 + Missense_Mutation SNP C C T TCGA-DK-A1AB-01A-11D-A13W-08 TCGA-DK-A1AB-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f0fb2ba-0351-4ce0-8b74-31aa3deecae1 6bb1a3eb-1659-4df1-935d-f8b2d710ace4 g.chr1:148342528C>T ENST00000369202.1 - 5 705 c.508G>A c.(508-510)Gag>Aag p.E170K NBPF20_ENST00000414710.2_Missense_Mutation_p.E170K neuroblastoma breakpoint family, member 20 p.E170K(1) breast(1)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|urinary_tract(1) 27 TCTTCATCCTCATCTTCGTCA 0.418000 24 417 0 0 0.059317 0 0 NDUFS1 4719 broad.mit.edu 37 2 207009718 207009718 + Missense_Mutation SNP A A C TCGA-DK-A1AB-01A-11D-A13W-08 TCGA-DK-A1AB-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f0fb2ba-0351-4ce0-8b74-31aa3deecae1 6bb1a3eb-1659-4df1-935d-f8b2d710ace4 g.chr2:207009718A>C ENST00000233190.6 - 9 1036 c.770T>G c.(769-771)gTt>gGt p.V257G NDUFS1_ENST00000423725.1_Missense_Mutation_p.V200G|NDUFS1_ENST00000449699.1_Missense_Mutation_p.V257G|NDUFS1_ENST00000440274.1_Missense_Mutation_p.V221G|NDUFS1_ENST00000455934.2_Missense_Mutation_p.V271G|NDUFS1_ENST00000457011.1_Missense_Mutation_p.V141G|NDUFS1_ENST00000432169.1_Missense_Mutation_p.V146G NM_005006.6 NP_004997.4 P28331 NDUS1_HUMAN NADH dehydrogenase (ubiquinone) Fe-S protein 1, 75kDa (NADH-coenzyme Q reductase) apoptosis|ATP metabolic process|mitochondrial electron transport, NADH to ubiquinone|reactive oxygen species metabolic process|regulation of mitochondrial membrane potential|transport mitochondrial intermembrane space|mitochondrial respiratory chain complex I 2 iron, 2 sulfur cluster binding|4 iron, 4 sulfur cluster binding|electron carrier activity|metal ion binding|NADH dehydrogenase (ubiquinone) activity|protein binding p.V257G(1) breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(15)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 38 NADH(DB00157) ATTACTTCCAACCGCATCCAT 0.393000 20 77 0 0 0.049695 0 0 KRTAP24-1 643803 broad.mit.edu 37 21 31654758 31654758 + Missense_Mutation SNP G G C TCGA-DK-A1AB-01A-11D-A13W-08 TCGA-DK-A1AB-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f0fb2ba-0351-4ce0-8b74-31aa3deecae1 6bb1a3eb-1659-4df1-935d-f8b2d710ace4 g.chr21:31654758G>C ENST00000340345.4 - 1 518 c.493C>G c.(493-495)Cta>Gta p.L165V NM_001085455.1 NP_001078924.1 Q3LI83 KR241_HUMAN keratin associated protein 24-1 165 keratin filament structural molecule activity p.L165V(1) breast(1)|large_intestine(3)|lung(7)|urinary_tract(3) 14 CAGTGGTTTAGAGTTTGGAAA 0.443000 40 121 0 0 0.104719 0 0 P2RX4 5025 broad.mit.edu 37 12 121654786 121654786 + Missense_Mutation SNP G G C TCGA-DK-A1AB-01A-11D-A13W-08 TCGA-DK-A1AB-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f0fb2ba-0351-4ce0-8b74-31aa3deecae1 6bb1a3eb-1659-4df1-935d-f8b2d710ace4 g.chr12:121654786G>C ENST00000359949.7 + 2 263 c.163G>C c.(163-165)Gaa>Caa p.E55Q P2RX4_ENST00000541532.1_Intron|P2RX4_ENST00000540930.1_Intron|P2RX4_ENST00000543171.1_Intron|P2RX4_ENST00000337233.4_Intron NM_001256796.1 NP_001243725.1 Q99571 P2RX4_HUMAN purinergic receptor P2X, ligand-gated ion channel, 4 45 endothelial cell activation|negative regulation of cardiac muscle hypertrophy|positive regulation of calcium ion transport into cytosol|positive regulation of calcium-mediated signaling|positive regulation of nitric oxide biosynthetic process|positive regulation of prostaglandin secretion|regulation of apoptosis|regulation of blood pressure|regulation of sodium ion transport|relaxation of cardiac muscle|response to ATP|response to fluid shear stress|sensory perception of pain|tissue homeostasis cell junction|perinuclear region of cytoplasm cadherin binding|copper ion binding|extracellular ATP-gated cation channel activity|protein homodimerization activity|purinergic nucleotide receptor activity|receptor binding|zinc ion binding breast(1)|kidney(4)|large_intestine(4)|lung(7)|prostate(1) 17 all_neural(191;0.0684)|Medulloblastoma(191;0.0922) ggcagaagtggaaatggagtc 0.483000 8 12 0 0 0.038147 0 0 TP53 7157 broad.mit.edu 37 17 7578188 7578188 + Nonsense_Mutation SNP C C A TCGA-DK-A1AB-01A-11D-A13W-08 TCGA-DK-A1AB-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f0fb2ba-0351-4ce0-8b74-31aa3deecae1 6bb1a3eb-1659-4df1-935d-f8b2d710ace4 g.chr17:7578188C>A ENST00000420246.2 - 6 793 c.661G>T c.(661-663)Gag>Tag p.E221* TP53_ENST00000445888.2_Nonsense_Mutation_p.E221*|TP53_ENST00000359597.4_Nonsense_Mutation_p.E221*|TP53_ENST00000455263.2_Nonsense_Mutation_p.E221*|TP53_ENST00000413465.2_Nonsense_Mutation_p.E221*|TP53_ENST00000269305.4_Nonsense_Mutation_p.E221*|TP53_ENST00000574684.1_Intron NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 221 Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42. E -> A (in sporadic cancers; somatic mutation).|E -> D (in sporadic cancers; somatic mutation).|E -> G (in sporadic cancers; somatic mutation).|E -> K (in sporadic cancers; somatic mutation).|E -> Q (in sporadic cancers; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.E221*(14)|p.?(11)|p.0?(8)|p.E221fs*4(3)|p.E128*(3)|p.E221K(2)|p.Y220_P223delYEPP(1)|p.E221fs*2(1)|p.V218_E224delVPYEPPE(1)|p.V218_E221delVPYE(1)|p.Y220fs*25(1)|p.E221fs*26(1)|p.V218fs*26(1) NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79) 24185 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) TCAGGCGGCTCATAGGGCACC 0.552000 111 """Mis, N, F""" """breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types""" """breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types""" Other conserved DNA damage response genes Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 15 15 2.31682e-05 2.51124e-05 0.132662 1 0 CCDC147 159686 broad.mit.edu 37 10 106209909 106209909 + Silent SNP C C G TCGA-DK-A1AB-01A-11D-A13W-08 TCGA-DK-A1AB-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f0fb2ba-0351-4ce0-8b74-31aa3deecae1 6bb1a3eb-1659-4df1-935d-f8b2d710ace4 g.chr10:106209909C>G ENST00000369704.3 + 17 2591 c.2457C>G c.(2455-2457)ctC>ctG p.L819L NM_001008723.1 NP_001008723.1 Q5T655 CC147_HUMAN coiled-coil domain containing 147 819 p.L819L(1) NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2) 52 Colorectal(252;0.103)|Breast(234;0.122) Epithelial(162;7.55e-10)|all cancers(201;3.37e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0189) CCAATGAGCTCCAGAATTTAA 0.328000 53 127 0 0 0.139131 0 0 ARNTL2 56938 broad.mit.edu 37 12 27573406 27573406 + Nonsense_Mutation SNP G G T TCGA-DK-A1AB-01A-11D-A13W-08 TCGA-DK-A1AB-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f0fb2ba-0351-4ce0-8b74-31aa3deecae1 6bb1a3eb-1659-4df1-935d-f8b2d710ace4 g.chr12:27573406G>T ENST00000544915.1 + 16 1969 c.1750G>T c.(1750-1752)Gaa>Taa p.E584* ARNTL2_ENST00000542388.1_Nonsense_Mutation_p.E533*|RP11-165P7.1_ENST00000500498.2_RNA|ARNTL2_ENST00000395901.2_Nonsense_Mutation_p.E581*|ARNTL2_ENST00000546179.1_3'UTR|ARNTL2_ENST00000261178.5_Nonsense_Mutation_p.E570*|ARNTL2_ENST00000311001.5_Nonsense_Mutation_p.E604*|ARNTL2_ENST00000266503.5_Nonsense_Mutation_p.E618* NM_020183.4 NP_064568.3 Q8WYA1 BMAL2_HUMAN aryl hydrocarbon receptor nuclear translocator-like 2 618 circadian rhythm|entrainment of circadian clock|regulation of transcription from RNA polymerase II promoter nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity p.E618*(1) breast(1)|endometrium(2)|large_intestine(5)|lung(9)|ovary(1)|skin(2)|urinary_tract(1) 21 Colorectal(261;0.0847)|Lung SC(9;0.184) GAATTACTTAGAAGCAGAGGG 0.448000 19 130 1.67942e-08 1.82673e-08 0.038395 1 0 EVL 51466 broad.mit.edu 37 14 100607527 100607527 + Missense_Mutation SNP G G A TCGA-DK-A1AB-01A-11D-A13W-08 TCGA-DK-A1AB-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f0fb2ba-0351-4ce0-8b74-31aa3deecae1 6bb1a3eb-1659-4df1-935d-f8b2d710ace4 g.chr14:100607527G>A ENST00000402714.2 + 12 1703 c.1099G>A c.(1099-1101)Gct>Act p.A367T EVL_ENST00000392920.3_Missense_Mutation_p.A369T Q9UI08 EVL_HUMAN Enah/Vasp-like 367 EVH2. actin polymerization or depolymerization|axon guidance|cell surface receptor linked signaling pathway|organ morphogenesis cytoskeleton|cytosol|focal adhesion|lamellipodium actin binding|profilin binding|SH3 domain binding p.A369T(1) cervix(1)|large_intestine(5)|lung(3)|ovary(3)|urinary_tract(2) 14 Melanoma(154;0.152) GATGAAGCCTGCTGGGAGCGT 0.647000 7 38 0 0 0.029380 0 0 MARCH1 55016 broad.mit.edu 37 4 164534603 164534603 + Missense_Mutation SNP C C G TCGA-DK-A1AB-01A-11D-A13W-08 TCGA-DK-A1AB-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f0fb2ba-0351-4ce0-8b74-31aa3deecae1 6bb1a3eb-1659-4df1-935d-f8b2d710ace4 g.chr4:164534603C>G ENST00000339875.5 - 1 83 c.54G>C c.(52-54)aaG>aaC p.K18N MARCH1_ENST00000274056.7_Intron|MARCH1_ENST00000514618.1_Intron|MARCH1_ENST00000503008.1_Intron NM_017923.3 NP_060393.1 Q8TCQ1 MARH1_HUMAN membrane-associated ring finger (C3HC4) 1, E3 ubiquitin protein ligase 0 Responsible for low stability (By similarity). antigen processing and presentation of peptide antigen via MHC class II|immune response cytoplasmic vesicle membrane|early endosome membrane|Golgi apparatus|integral to membrane|late endosome membrane|lysosomal membrane|plasma membrane MHC protein binding|ubiquitin-protein ligase activity|zinc ion binding p.K18N(1) endometrium(2)|kidney(3)|large_intestine(3)|lung(20)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 36 all_hematologic(180;0.166) Prostate(90;0.0959)|all_neural(102;0.223) TGGTTGATATCTTGCTTTTTT 0.398000 23 90 0 0 0.083992 0 0 ATE1 11101 broad.mit.edu 37 10 123673374 123673374 + Missense_Mutation SNP G G C TCGA-DK-A1AB-01A-11D-A13W-08 TCGA-DK-A1AB-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f0fb2ba-0351-4ce0-8b74-31aa3deecae1 6bb1a3eb-1659-4df1-935d-f8b2d710ace4 g.chr10:123673374G>C ENST00000369043.3 - 4 354 c.268C>G c.(268-270)Cac>Gac p.H90D ATE1_ENST00000224652.6_Missense_Mutation_p.H90D|ATE1_ENST00000369040.3_5'UTR|ATE1_ENST00000540606.1_Missense_Mutation_p.H83D|ATE1_ENST00000535655.1_5'UTR|ATE1_ENST00000543447.1_Intron NM_007041.2 NP_008972.2 O95260 ATE1_HUMAN arginyltransferase 1 90 protein arginylation cytoplasm|nucleus acyltransferase activity|arginyltransferase activity p.H90D(2) endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 14 all_neural(114;0.061)|Lung NSC(174;0.095)|all_lung(145;0.124)|Breast(234;0.212) ACCTTCTTGTGAGATTTTGAA 0.363000 21 46 0 0 0.049695 0 0 RP11-909M7.3 0 broad.mit.edu 37 14 101434481 101434481 + RNA SNP C C T TCGA-DK-A1AB-01A-11D-A13W-08 TCGA-DK-A1AB-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f0fb2ba-0351-4ce0-8b74-31aa3deecae1 6bb1a3eb-1659-4df1-935d-f8b2d710ace4 g.chr14:101434481C>T ENST00000554693.2 + 0 135 SNORD114-11_ENST00000363738.1_RNA GTGTGTGAGTCATGCACAGTG 0.413000 8 18 0 0 0.069234 0 0 PPP1R32 220004 broad.mit.edu 37 11 61254053 61254053 + Nonsense_Mutation SNP C C T TCGA-DK-A1AB-01A-11D-A13W-08 TCGA-DK-A1AB-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f0fb2ba-0351-4ce0-8b74-31aa3deecae1 6bb1a3eb-1659-4df1-935d-f8b2d710ace4 g.chr11:61254053C>T ENST00000338608.2 + 9 930 c.805C>T c.(805-807)Cga>Tga p.R269* PPP1R32_ENST00000432063.2_Nonsense_Mutation_p.R249* NM_145017.2 NP_659454.2 Q7Z5V6 CK066_HUMAN protein phosphatase 1, regulatory subunit 32 269 p.R269*(1) AGCCTTCAGCCGAGGGAATGA 0.577000 4 14 0 0 0.014758 0 0 TGFBR3 7049 broad.mit.edu 37 1 92185667 92185667 + Missense_Mutation SNP C C G TCGA-DK-A1AB-01A-11D-A13W-08 TCGA-DK-A1AB-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f0fb2ba-0351-4ce0-8b74-31aa3deecae1 6bb1a3eb-1659-4df1-935d-f8b2d710ace4 g.chr1:92185667C>G ENST00000212355.4 - 9 1661 c.1196G>C c.(1195-1197)gGa>gCa p.G399A TGFBR3_ENST00000370399.2_Missense_Mutation_p.G398A|TGFBR3_ENST00000525962.1_Missense_Mutation_p.G399A NM_001195683.1|NM_003243.4 NP_001182612.1|NP_003234.2 Q03167 TGBR3_HUMAN transforming growth factor, beta receptor III 399 BMP signaling pathway|cardiac epithelial to mesenchymal transition|cardiac muscle cell proliferation|cell growth|cell migration|definitive erythrocyte differentiation|heart trabecula formation|immune response|intracellular protein kinase cascade|liver development|negative regulation of cellular component movement|negative regulation of epithelial cell proliferation|palate development|pathway-restricted SMAD protein phosphorylation|response to follicle-stimulating hormone stimulus|response to luteinizing hormone stimulus|response to prostaglandin E stimulus|transforming growth factor beta receptor signaling pathway|ventricular cardiac muscle tissue morphogenesis external side of plasma membrane|extracellular space|inhibin-betaglycan-ActRII complex|integral to plasma membrane|intracellular membrane-bounded organelle coreceptor activity|heparin binding|PDZ domain binding|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type III|type II transforming growth factor beta receptor binding p.G399A(1) endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(24)|ovary(3)|prostate(4)|skin(1)|stomach(1)|urinary_tract(3) 55 all_lung(203;0.00719)|Lung NSC(277;0.0268) all cancers(265;0.0108)|Epithelial(280;0.0825) CGGAAGGCCTCCATTTTGGCC 0.582000 27 57 0 0 0.116897 0 0 GABRB2 2561 broad.mit.edu 37 5 160758051 160758051 + Missense_Mutation SNP C C T TCGA-DK-A1AB-01A-11D-A13W-08 TCGA-DK-A1AB-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f0fb2ba-0351-4ce0-8b74-31aa3deecae1 6bb1a3eb-1659-4df1-935d-f8b2d710ace4 g.chr5:160758051C>T ENST00000274547.2 - 9 1133 c.916G>A c.(916-918)Gac>Aac p.D306N GABRB2_ENST00000517547.1_Missense_Mutation_p.D146N|GABRB2_ENST00000517901.1_Missense_Mutation_p.D243N|GABRB2_ENST00000353437.6_Missense_Mutation_p.D306N|GABRB2_ENST00000520240.1_Missense_Mutation_p.D306N|GABRB2_ENST00000393959.1_Missense_Mutation_p.D306N NM_000813.2|NM_021911.2 NP_000804.1|NP_068711.1 P47870 GBRB2_HUMAN gamma-aminobutyric acid (GABA) A receptor, beta 2 306 gamma-aminobutyric acid signaling pathway|synaptic transmission cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane chloride channel activity|GABA-A receptor activity p.D306N(2) breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(9)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 26 Renal(175;0.00259) Medulloblastoma(196;0.021)|all_neural(177;0.0463) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683) AGGTACATGTCAATGGCCTTC 0.483000 58 134 0 0 0.139131 0 0 SHANK2 22941 broad.mit.edu 37 11 70507825 70507825 + Silent SNP C C T TCGA-DK-A1AB-01A-11D-A13W-08 TCGA-DK-A1AB-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f0fb2ba-0351-4ce0-8b74-31aa3deecae1 6bb1a3eb-1659-4df1-935d-f8b2d710ace4 g.chr11:70507825C>T ENST00000449833.2 - 1 98 c.48G>A c.(46-48)acG>acA p.T16T SHANK2_ENST00000338508.4_Intron|SHANK2_ENST00000409530.1_Silent_p.T15T|SHANK2_ENST00000449116.2_Silent_p.T16T|SHANK2_ENST00000409161.1_Silent_p.T15T|SHANK2_ENST00000423696.2_Intron|SHANK2_ENST00000357171.3_Silent_p.T16T NM_133266.3 NP_573573.2 Q9UPX8 SHAN2_HUMAN SH3 and multiple ankyrin repeat domains 2 0 intracellular signal transduction cell junction|cytoplasm|postsynaptic density|postsynaptic membrane GKAP/Homer scaffold activity|ionotropic glutamate receptor binding|SH3 domain binding p.T16T(2) NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 62 LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071) TATTGTAGCCCGTCATCATCA 0.542000 28 96 0 0 0.134883 0 0 DNAH7 56171 broad.mit.edu 37 2 196636429 196636429 + Silent SNP C C T TCGA-DK-A1AB-01A-11D-A13W-08 TCGA-DK-A1AB-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f0fb2ba-0351-4ce0-8b74-31aa3deecae1 6bb1a3eb-1659-4df1-935d-f8b2d710ace4 g.chr2:196636429C>T ENST00000312428.6 - 61 11488 c.11388G>A c.(11386-11388)ctG>ctA p.L3796L DNAH7_ENST00000409063.1_Silent_p.L279L NM_018897.2 NP_061720.2 Q8WXX0 DYH7_HUMAN dynein, axonemal, heavy chain 7 3796 ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity p.L3796L(1) NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3) 205 TTATGGTCTTCAGTAACTTAT 0.383000 71 177 0 0 0.139131 0 0 DOK4 55715 broad.mit.edu 37 16 57508776 57508776 + Silent SNP G G A TCGA-DK-A1AB-01A-11D-A13W-08 TCGA-DK-A1AB-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f0fb2ba-0351-4ce0-8b74-31aa3deecae1 6bb1a3eb-1659-4df1-935d-f8b2d710ace4 g.chr16:57508776G>A ENST00000566936.1 - 5 825 c.528C>T c.(526-528)ctC>ctT p.L176L DOK4_ENST00000340099.4_Silent_p.L176L|DOK4_ENST00000569548.1_Silent_p.L176L Q8TEW6 DOK4_HUMAN docking protein 4 176 IRS-type PTB. insulin receptor binding p.L176L(1) kidney(1)|large_intestine(1)|lung(1)|skin(1)|urinary_tract(2) 6 GCCACGAGACGAGCTTCACAC 0.637000 11 30 0 0 0.080935 0 0 HEG1 57493 broad.mit.edu 37 3 124746337 124746337 + Missense_Mutation SNP G G A TCGA-DK-A1AB-01A-11D-A13W-08 TCGA-DK-A1AB-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f0fb2ba-0351-4ce0-8b74-31aa3deecae1 6bb1a3eb-1659-4df1-935d-f8b2d710ace4 g.chr3:124746337G>A ENST00000311127.4 - 3 692 c.625C>T c.(625-627)Cac>Tac p.H209Y NM_020733.1 NP_065784.1 Q9ULI3 HEG1_HUMAN heart development protein with EGF-like domains 1 209 extracellular region|integral to membrane calcium ion binding p.H209Y(1) breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(24)|ovary(2)|urinary_tract(4) 47 GATGGCAGGTGAAGACTTTCT 0.453000 6 27 0 0 0.021553 0 0 MANBA 4126 broad.mit.edu 37 4 103595103 103595103 + Missense_Mutation SNP G G A TCGA-DK-A1AB-01A-11D-A13W-08 TCGA-DK-A1AB-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f0fb2ba-0351-4ce0-8b74-31aa3deecae1 6bb1a3eb-1659-4df1-935d-f8b2d710ace4 g.chr4:103595103G>A ENST00000226578.4 - 8 1184 c.1085C>T c.(1084-1086)tCa>tTa p.S362L MANBA_ENST00000505239.1_Missense_Mutation_p.S305L NM_005908.3 NP_005899.3 O00462 MANBA_HUMAN mannosidase, beta A, lysosomal 362 carbohydrate metabolic process|protein modification process lysosome beta-mannosidase activity|cation binding p.S362L(1)|p.S362*(1) cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(12)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 42 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;4.44e-08) GTCCTGGAATGAATCTGCTGG 0.368000 36 104 0 0 0.074837 0 0 HTR7 3363 broad.mit.edu 37 10 92617282 92617282 + Silent SNP C C G TCGA-DK-A1AB-01A-11D-A13W-08 TCGA-DK-A1AB-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f0fb2ba-0351-4ce0-8b74-31aa3deecae1 6bb1a3eb-1659-4df1-935d-f8b2d710ace4 g.chr10:92617282C>G ENST00000371721.3 - 1 389 c.147G>C c.(145-147)ctG>ctC p.L49L HTR7_ENST00000336152.3_Silent_p.L49L|HTR7_ENST00000277874.6_Silent_p.L49L|HTR7_ENST00000371719.2_Silent_p.L49L P34969 5HT7R_HUMAN 5-hydroxytryptamine (serotonin) receptor 7, adenylate cyclase-coupled 49 blood circulation|circadian rhythm integral to plasma membrane protein binding|serotonin receptor activity p.L49L(2) NS(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 30 Eletriptan(DB00216)|Methysergide(DB00247)|Ziprasidone(DB00246) TCACCTCGCTCAGCAGGTGCG 0.701000 6 11 0 0 0.021553 0 0 BAG6 7917 broad.mit.edu 37 6 31617000 31617000 + Silent SNP G G A TCGA-DK-A1AB-01A-11D-A13W-08 TCGA-DK-A1AB-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f0fb2ba-0351-4ce0-8b74-31aa3deecae1 6bb1a3eb-1659-4df1-935d-f8b2d710ace4 g.chr6:31617000G>A ENST00000404765.2 - 4 688 c.399C>T c.(397-399)gtC>gtT p.V133V BAG6_ENST00000362049.6_Silent_p.V133V|BAG6_ENST00000211379.5_Silent_p.V133V|BAG6_ENST00000439687.2_Silent_p.V133V|BAG6_ENST00000375976.4_Silent_p.V133V|BAG6_ENST00000375964.6_Silent_p.V133V P46379 BAG6_HUMAN BCL2-associated athanogene 6 133 apoptosis in response to endoplasmic reticulum stress|brain development|cell differentiation|chromatin modification|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|embryo development|internal peptidyl-lysine acetylation|kidney development|lung development|negative regulation of proteasomal ubiquitin-dependent protein catabolic process|protein stabilization|spermatogenesis|synaptonemal complex assembly|tail-anchored membrane protein insertion into ER membrane|transport|ubiquitin-dependent protein catabolic process BAT3 complex|nucleus polyubiquitin binding|proteasome binding|ribosome binding p.V133V(1) breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(2)|pancreas(2)|skin(3)|urinary_tract(2) 36 TTCCAACCATGACATAGCTGT 0.552000 45 67 0 0 0.117977 0 0 LRP1 4035 broad.mit.edu 37 12 57595667 57595667 + Missense_Mutation SNP G G C TCGA-DK-A1AB-01A-11D-A13W-08 TCGA-DK-A1AB-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f0fb2ba-0351-4ce0-8b74-31aa3deecae1 6bb1a3eb-1659-4df1-935d-f8b2d710ace4 g.chr12:57595667G>C ENST00000243077.3 + 67 11039 c.10573G>C c.(10573-10575)Gat>Cat p.D3525H NM_002332.2 NP_002323.2 Q07954 LRP1_HUMAN low density lipoprotein receptor-related protein 1 3525 LDL-receptor class A 25. aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|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 p.D3525Y(1)|p.D3525H(1) 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) GGATGGCTCGGATGAGCCCAA 0.632000 14 49 0 0 0.119110 0 0 COG2 22796 broad.mit.edu 37 1 230810788 230810788 + Missense_Mutation SNP C C T TCGA-DK-A1AB-01A-11D-A13W-08 TCGA-DK-A1AB-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f0fb2ba-0351-4ce0-8b74-31aa3deecae1 6bb1a3eb-1659-4df1-935d-f8b2d710ace4 g.chr1:230810788C>T ENST00000534989.1 + 9 1102 c.767C>T c.(766-768)tCt>tTt p.S256F COG2_ENST00000366668.3_Missense_Mutation_p.S315F|COG2_ENST00000366669.4_Missense_Mutation_p.S315F|COG2_ENST00000535166.1_Missense_Mutation_p.S199F Q14746 COG2_HUMAN component of oligomeric golgi complex 2 315 Golgi organization|intra-Golgi vesicle-mediated transport|intracellular protein transport|oligosaccharide biosynthetic process|protein glycosylation Golgi membrane|Golgi stack|Golgi transport complex protein binding|protein transporter activity p.S315F(1) NS(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(11)|prostate(2)|skin(2)|urinary_tract(3) 27 Breast(184;0.0871)|Ovarian(103;0.183) Prostate(94;0.178) TTGGTGAATTCTGTTTGGCCA 0.393000 43 134 0 0 0.111260 0 0 RAD52 5893 broad.mit.edu 37 12 1025522 1025522 + Nonstop_Mutation SNP C C G TCGA-DK-A1AB-01A-11D-A13W-08 TCGA-DK-A1AB-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f0fb2ba-0351-4ce0-8b74-31aa3deecae1 6bb1a3eb-1659-4df1-935d-f8b2d710ace4 g.chr12:1025522C>G ENST00000536177.1 - 9 988 c.905G>C c.(904-906)tGa>tCa p.*302S RAD52_ENST00000430095.2_Missense_Mutation_p.E285Q|RAD52_ENST00000358495.3_Missense_Mutation_p.E285Q|RAD52_ENST00000535376.1_5'UTR|RAD52_ENST00000539046.1_Missense_Mutation_p.E208Q P43351 RAD52_HUMAN RAD52 homolog (S. cerevisiae) 0 DNA recombinase assembly|mitotic recombination|reciprocal meiotic recombination nucleoplasm DNA binding|protein binding p.E285Q(1) central_nervous_system(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(2) 19 all_cancers(10;0.0119)|all_epithelial(11;0.0171)|all_lung(10;0.0521)|Ovarian(42;0.0816)|Lung NSC(10;0.0987) OV - Ovarian serous cystadenocarcinoma(31;0.00123)|BRCA - Breast invasive adenocarcinoma(9;0.0323) TCACTCTTCTCAGCTGACGGC 0.647000 Homologous recombination 4 10 0 0 0.009096 0 0 LEF1 51176 broad.mit.edu 37 4 109004529 109004529 + Silent SNP G G A TCGA-DK-A1AB-01A-11D-A13W-08 TCGA-DK-A1AB-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f0fb2ba-0351-4ce0-8b74-31aa3deecae1 6bb1a3eb-1659-4df1-935d-f8b2d710ace4 g.chr4:109004529G>A ENST00000379951.2 - 5 1809 c.621C>T c.(619-621)atC>atT p.I207I LEF1_ENST00000265165.1_Silent_p.I207I|LEF1_ENST00000438313.2_Silent_p.I207I|LEF1_ENST00000510624.1_Silent_p.I139I|LEF1_ENST00000512172.1_Silent_p.I139I NM_001130713.2|NM_001130714.2 NP_001124185.1|NP_001124186.1 Q9UJU2 LEF1_HUMAN lymphoid enhancer-binding factor 1 207 Pro-rich. canonical Wnt receptor signaling pathway|cell chemotaxis|cellular response to interleukin-4|epithelial to mesenchymal transition|histone H3 acetylation|histone H4 acetylation|negative regulation of apoptosis in bone marrow|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell-cell adhesion|negative regulation of DNA binding|negative regulation of estrogen receptor binding|negative regulation of interleukin-13 production|negative regulation of interleukin-4 production|negative regulation of interleukin-5 production|negative regulation of transcription, DNA-dependent|neutrophil differentiation|osteoblast differentiation|palate development|positive regulation by host of viral transcription|positive regulation of cell cycle process|positive regulation of cell growth|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of cell proliferation in bone marrow|positive regulation of cell-cell adhesion|positive regulation of epithelial to mesenchymal transition|positive regulation of granulocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|T-helper 1 cell differentiation cytoplasm|protein-DNA complex|transcription factor complex armadillo repeat domain binding|beta-catenin binding|C2H2 zinc finger domain binding|caspase inhibitor activity|DNA bending activity|enhancer binding|estrogen receptor activity|estrogen receptor binding|gamma-catenin binding|histone binding|sequence-specific DNA binding|transcription regulatory region DNA binding p.I207I(1)|p.I139I(1) endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(14)|prostate(1)|urinary_tract(1) 25 OV - Ovarian serous cystadenocarcinoma(123;0.000224) GAGGTGGGGTGATCTGTCCAA 0.463000 18 39 0 0 0.043863 0 0 PLEKHG3 26030 broad.mit.edu 37 14 65194411 65194411 + Missense_Mutation SNP C C G TCGA-DK-A1AB-01A-11D-A13W-08 TCGA-DK-A1AB-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f0fb2ba-0351-4ce0-8b74-31aa3deecae1 6bb1a3eb-1659-4df1-935d-f8b2d710ace4 g.chr14:65194411C>G ENST00000247226.7 + 2 370 c.62C>G c.(61-63)tCt>tGt p.S21C PLEKHG3_ENST00000394691.1_Missense_Mutation_p.S21C NM_015549.1 NP_056364.1 A1L390 PKHG3_HUMAN pleckstrin homology domain containing, family G (with RhoGef domain) member 3 21 Ser-rich. regulation of Rho protein signal transduction intracellular Rho guanyl-nucleotide exchange factor activity p.S21C(1) endometrium(5)|kidney(2)|large_intestine(1)|lung(14)|prostate(2)|skin(3)|urinary_tract(2) 29 all cancers(60;0.00802)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)|BRCA - Breast invasive adenocarcinoma(234;0.0485) AGCCTGACCTCTACCACCTCC 0.667000 3 10 0 0 0.014758 0 0 TTYH1 57348 broad.mit.edu 37 19 54932504 54932504 + Missense_Mutation SNP C C G TCGA-DK-A1AB-01A-11D-A13W-08 TCGA-DK-A1AB-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f0fb2ba-0351-4ce0-8b74-31aa3deecae1 6bb1a3eb-1659-4df1-935d-f8b2d710ace4 g.chr19:54932504C>G ENST00000301194.4 + 3 481 c.359C>G c.(358-360)tCc>tGc p.S120C TTYH1_ENST00000376530.3_Missense_Mutation_p.S120C|TTYH1_ENST00000391739.3_Missense_Mutation_p.S169C|TTYH1_ENST00000376531.3_Missense_Mutation_p.S120C Q9H313 TTYH1_HUMAN tweety family member 1 120 cell adhesion chloride channel complex|plasma membrane chloride channel activity|iron ion transmembrane transporter activity p.S120C(2) endometrium(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 17 Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.0767) GATGGGGTGTCCCAGCTCAGC 0.627000 10 60 0 0 0.058154 0 0 TNXB 7148 broad.mit.edu 37 6 32017875 32017875 + Silent SNP G G A TCGA-DK-A1AB-01A-11D-A13W-08 TCGA-DK-A1AB-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f0fb2ba-0351-4ce0-8b74-31aa3deecae1 6bb1a3eb-1659-4df1-935d-f8b2d710ace4 g.chr6:32017875G>A ENST00000375244.3 - 27 9540 c.9339C>T c.(9337-9339)gtC>gtT p.V3113V TNXB_ENST00000375247.2_Silent_p.V3111V P22105 TENX_HUMAN tenascin XB 3158 Fibronectin type-III 23. actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction extracellular space|intracellular|proteinaceous extracellular matrix heparin binding|integrin binding p.V3113V(1)|p.V3178V(1) endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1) 8 CTGAGATGGTGACCCCGTCCT 0.632000 15 14 0 0 0.033300 0 0 KIF27 55582 broad.mit.edu 37 9 86457231 86457231 + Missense_Mutation SNP C C G TCGA-DK-A1AB-01A-11D-A13W-08 TCGA-DK-A1AB-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f0fb2ba-0351-4ce0-8b74-31aa3deecae1 6bb1a3eb-1659-4df1-935d-f8b2d710ace4 g.chr9:86457231C>G ENST00000297814.2 - 17 3785 c.3642G>C c.(3640-3642)aaG>aaC p.K1214N KIF27_ENST00000334204.2_Missense_Mutation_p.K1117N|KIF27_ENST00000413982.1_Missense_Mutation_p.K1148N|RP11-575L7.4_ENST00000591217.1_RNA NM_017576.1 NP_060046.1 Q86VH2 KIF27_HUMAN kinesin family member 27 1214 cilium assembly|microtubule-based movement cilium|cytoplasm|microtubule ATP binding|microtubule motor activity p.K1214N(1) breast(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(7)|lung(17)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1) 43 GGCTGGTTTTCTTATAGAAAT 0.368000 23 45 0 0 0.091800 0 0 KDM6A 7403 broad.mit.edu 37 X 44969327 44969327 + Nonsense_Mutation SNP G G T TCGA-DK-A1AB-01A-11D-A13W-08 TCGA-DK-A1AB-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f0fb2ba-0351-4ce0-8b74-31aa3deecae1 6bb1a3eb-1659-4df1-935d-f8b2d710ace4 g.chrX:44969327G>T ENST00000377967.4 + 28 4050 c.4009G>T c.(4009-4011)Gag>Tag p.E1337* KDM6A_ENST00000479423.1_3'UTR|KDM6A_ENST00000382899.4_Nonsense_Mutation_p.E1344*|KDM6A_ENST00000543216.1_Nonsense_Mutation_p.E1258*|KDM6A_ENST00000536777.1_Nonsense_Mutation_p.E1292* NM_021140.2 NP_066963.2 O15550 KDM6A_HUMAN lysine (K)-specific demethylase 6A 1337 histone H3-K4 methylation metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen p.0?(6)|p.E1337*(1) NS(1)|breast(7)|central_nervous_system(27)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(24)|kidney(24)|large_intestine(9)|liver(1)|lung(21)|oesophagus(11)|pancreas(2)|prostate(5)|skin(1)|soft_tissue(1)|urinary_tract(29) 170 AAAACAGGTGGAGGTTTTTGA 0.348000 """D, N, F, S""" """renal, oesophageal SCC, MM""" 8 71 0.00307968 0.00332648 0.038147 1 0 SRCRB4D 136853 broad.mit.edu 37 7 76033741 76033741 + Missense_Mutation SNP C C T TCGA-DK-A1AB-01A-11D-A13W-08 TCGA-DK-A1AB-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f0fb2ba-0351-4ce0-8b74-31aa3deecae1 6bb1a3eb-1659-4df1-935d-f8b2d710ace4 g.chr7:76033741C>T ENST00000275560.3 - 2 363 c.16G>A c.(16-18)Gag>Aag p.E6K ZP3_ENST00000336517.4_Intron NM_080744.1 NP_542782.1 Q8WTU2 SRB4D_HUMAN scavenger receptor cysteine rich domain containing, group B (4 domains) 6 extracellular region|membrane scavenger receptor activity p.E6K(1) autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(9)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1) 21 ATTAGCATCTCTGCTTCCTTG 0.542000 10 71 0 0 0.058154 0 0 DDX23 9416 broad.mit.edu 37 12 49230568 49230568 + Silent SNP G G A TCGA-DK-A1AB-01A-11D-A13W-08 TCGA-DK-A1AB-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f0fb2ba-0351-4ce0-8b74-31aa3deecae1 6bb1a3eb-1659-4df1-935d-f8b2d710ace4 g.chr12:49230568G>A ENST00000308025.3 - 10 1099 c.1020C>T c.(1018-1020)ctC>ctT p.L340L NM_004818.2 NP_004809.2 Q9BUQ8 DDX23_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 23 340 catalytic step 2 spliceosome|nucleoplasm|U5 snRNP ATP binding|ATP-dependent RNA helicase activity|nucleic acid binding|protein binding p.L340L(1) NS(1)|cervix(1)|kidney(4)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(3) 36 GAAGTTTGCGGAGTCTTGCCC 0.537000 110 285 0 0 0.139131 0 0 NEB 4703 broad.mit.edu 37 2 152349881 152349881 + Missense_Mutation SNP C C T TCGA-DK-A1AB-01A-11D-A13W-08 TCGA-DK-A1AB-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f0fb2ba-0351-4ce0-8b74-31aa3deecae1 6bb1a3eb-1659-4df1-935d-f8b2d710ace4 g.chr2:152349881C>T ENST00000427231.2 - 176 24953 c.24751G>A c.(24751-24753)Gaa>Aaa p.E8251K NEB_ENST00000172853.10_Missense_Mutation_p.E6395K|NEB_ENST00000604864.1_Missense_Mutation_p.E8251K|RIF1_ENST00000457745.1_Intron|NEB_ENST00000603639.1_Missense_Mutation_p.E8251K|NEB_ENST00000498015.2_Intron|NEB_ENST00000397336.2_Missense_Mutation_p.E226K|NEB_ENST00000509223.2_Missense_Mutation_p.E164K|NEB_ENST00000409198.1_Missense_Mutation_p.E6395K|NEB_ENST00000397345.3_Missense_Mutation_p.E8251K NM_001164507.1|NM_001271208.1 NP_001157979|NP_001258137.1 P20929 NEBU_HUMAN nebulin 6561 muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development actin cytoskeleton|cytosol|Z disc actin binding|structural constituent of muscle p.E6395*(1)|p.E6395K(1)|p.E8251K(1)|p.E8251*(1) NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2) 301 BRCA - Breast invasive adenocarcinoma(221;0.219) CTAATGTTTTCTTGGTTGCGC 0.383000 14 40 0 0 0.132662 0 0 TMEM99 147184 broad.mit.edu 37 17 38991464 38991464 + Silent SNP C C T TCGA-DK-A1AB-01A-11D-A13W-08 TCGA-DK-A1AB-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f0fb2ba-0351-4ce0-8b74-31aa3deecae1 6bb1a3eb-1659-4df1-935d-f8b2d710ace4 g.chr17:38991464C>T ENST00000301665.3 + 3 1000 c.696C>T c.(694-696)ctC>ctT p.L232L NM_001195386.1|NM_001195387.1|NM_145274.3 NP_001182315.1|NP_001182316.1|NP_660317.2 Q8N816 TMM99_HUMAN transmembrane protein 99 232 integral to membrane p.L232L(1) cervix(1)|large_intestine(1)|lung(5)|skin(2)|urinary_tract(1) 10 Breast(137;0.000301) GGCAAAGCCTCATATTACTCT 0.418000 45 59 0 0 0.104719 0 0 ZNF205 7755 broad.mit.edu 37 16 3170223 3170223 + Missense_Mutation SNP G G A TCGA-DK-A1AB-01A-11D-A13W-08 TCGA-DK-A1AB-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f0fb2ba-0351-4ce0-8b74-31aa3deecae1 6bb1a3eb-1659-4df1-935d-f8b2d710ace4 g.chr16:3170223G>A ENST00000382192.3 + 7 1767 c.1562G>A c.(1561-1563)cGg>cAg p.R521Q RP11-473M20.14_ENST00000576490.1_RNA|ZNF205_ENST00000219091.4_Missense_Mutation_p.R521Q|RP11-473M20.14_ENST00000575139.1_RNA NM_001278158.1|NM_003456.2 NP_001265087.1|NP_003447.2 O95201 ZN205_HUMAN zinc finger protein 205 521 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding p.R521Q(1) endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 20 AACCTGCACCGGCACGAGAAG 0.736000 9 22 0 0 0.047766 0 0 C5orf42 65250 broad.mit.edu 37 5 37185055 37185055 + Missense_Mutation SNP T T A TCGA-DK-A1AB-01A-11D-A13W-08 TCGA-DK-A1AB-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f0fb2ba-0351-4ce0-8b74-31aa3deecae1 6bb1a3eb-1659-4df1-935d-f8b2d710ace4 g.chr5:37185055T>A ENST00000274258.7 - 25 4546 c.959A>T c.(958-960)gAa>gTa p.E320V C5orf42_ENST00000508244.1_Missense_Mutation_p.E1439V|C5orf42_ENST00000425232.2_Missense_Mutation_p.E1439V E9PH94 E9PH94_HUMAN chromosome 5 open reading frame 42 1439 p.E320V(1)|p.E1439V(1) 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) TGGTTTCTCTTCTTCAATTGG 0.428000 43 101 0 0 0.117977 0 0 ASGR1 432 broad.mit.edu 37 17 7080605 7080605 + Silent SNP G G A TCGA-DK-A1AB-01A-11D-A13W-08 TCGA-DK-A1AB-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f0fb2ba-0351-4ce0-8b74-31aa3deecae1 6bb1a3eb-1659-4df1-935d-f8b2d710ace4 g.chr17:7080605G>A ENST00000269299.3 - 3 510 c.111C>T c.(109-111)tcC>tcT p.S37S ASGR1_ENST00000574388.1_Intron|ASGR1_ENST00000380920.4_5'UTR|ASGR1_ENST00000572879.1_5'UTR NM_001197216.2|NM_001671.4 NP_001184145.1|NP_001662.1 P07306 ASGR1_HUMAN asialoglycoprotein receptor 1 37 receptor-mediated endocytosis integral to plasma membrane asialoglycoprotein receptor activity|metal ion binding|sugar binding p.S37S(1) breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(3)|skin(1)|urinary_tract(1) 10 GGCGAGGTCCGGAGCAGAGAC 0.682000 OREG0024128 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 3 27 0 0 0.115264 0 0 URB2 9816 broad.mit.edu 37 1 229773838 229773838 + Nonsense_Mutation SNP C C T TCGA-DK-A1AB-01A-11D-A13W-08 TCGA-DK-A1AB-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f0fb2ba-0351-4ce0-8b74-31aa3deecae1 6bb1a3eb-1659-4df1-935d-f8b2d710ace4 g.chr1:229773838C>T ENST00000258243.2 + 4 3614 c.3478C>T c.(3478-3480)Cag>Tag p.Q1160* NM_014777.2 NP_055592.2 Q14146 URB2_HUMAN URB2 ribosome biogenesis 2 homolog (S. cerevisiae) 1160 nucleolus p.Q1160*(1) breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(6) 73 TGTTTACTCTCAGATACTGTT 0.552000 30 61 0 0 0.134883 0 0 APEX2 27301 broad.mit.edu 37 X 55033263 55033263 + Missense_Mutation SNP G G A TCGA-DK-A1AB-01A-11D-A13W-08 TCGA-DK-A1AB-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f0fb2ba-0351-4ce0-8b74-31aa3deecae1 6bb1a3eb-1659-4df1-935d-f8b2d710ace4 g.chrX:55033263G>A ENST00000374987.3 + 6 1018 c.952G>A c.(952-954)Gca>Aca p.A318T NM_014481.2 NP_055296.2 Q9UBZ4 APEX2_HUMAN APEX nuclease (apurinic/apyrimidinic endonuclease) 2 318 cell cycle|DNA recombination|DNA repair nucleus DNA binding|DNA-(apurinic or apyrimidinic site) lyase activity|endonuclease activity|exonuclease activity|zinc ion binding p.A318T(1) breast(1)|endometrium(8)|large_intestine(4)|lung(6)|prostate(1)|urinary_tract(1) 21 CTCTGTGCCTGCAAAACAGTG 0.567000 Other BER factors 13 24 0 0 0.105934 0 0 APBA2 321 broad.mit.edu 37 15 29393870 29393870 + Silent SNP G G A TCGA-DK-A1AB-01A-11D-A13W-08 TCGA-DK-A1AB-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f0fb2ba-0351-4ce0-8b74-31aa3deecae1 6bb1a3eb-1659-4df1-935d-f8b2d710ace4 g.chr15:29393870G>A ENST00000558402.1 + 11 2006 c.1407G>A c.(1405-1407)ctG>ctA p.L469L APBA2_ENST00000411764.1_Silent_p.L457L|APBA2_ENST00000561069.1_Silent_p.L469L|APBA2_ENST00000558330.1_Silent_p.L457L|APBA2_ENST00000558259.1_Silent_p.L469L Q99767 APBA2_HUMAN amyloid beta (A4) precursor protein-binding, family A, member 2 469 PID. nervous system development|protein transport protein binding p.L469L(1) NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|liver(2)|lung(33)|stomach(1)|urinary_tract(1) 59 all_lung(180;1.73e-12)|Breast(32;2.89e-05)|Colorectal(260;0.234) all cancers(64;7.44e-11)|Epithelial(43;5.74e-10)|GBM - Glioblastoma multiforme(186;0.026)|BRCA - Breast invasive adenocarcinoma(123;0.0286)|Lung(196;0.24) TTGTAGTGCTGATGGCCAGAC 0.592000 4 18 0 0 0.014758 0 0 LOXL3 84695 broad.mit.edu 37 2 74779555 74779555 + Silent SNP G G A TCGA-DK-A1AB-01A-11D-A13W-08 TCGA-DK-A1AB-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f0fb2ba-0351-4ce0-8b74-31aa3deecae1 6bb1a3eb-1659-4df1-935d-f8b2d710ace4 g.chr2:74779555G>A ENST00000264094.3 - 2 278 c.207C>T c.(205-207)atC>atT p.I69I LOXL3_ENST00000409986.1_Silent_p.I69I|LOXL3_ENST00000484369.1_5'UTR|LOXL3_ENST00000409549.1_Silent_p.I69I|LOXL3_ENST00000409249.1_Silent_p.I69I|DOK1_ENST00000409429.1_Intron|LOXL3_ENST00000393937.2_Silent_p.I69I NM_032603.2 NP_115992.1 P58215 LOXL3_HUMAN lysyl oxidase-like 3 69 SRCR 1. extracellular space|membrane copper ion binding|protein-lysine 6-oxidase activity|scavenger receptor activity p.I69I(1) endometrium(7)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1) 30 CATCATCGCAGATGGTGCCCC 0.652000 21 46 0 0 0.069288 0 0 TRIM32 22954 broad.mit.edu 37 9 119460323 119460323 + Missense_Mutation SNP G G A TCGA-DK-A1AB-01A-11D-A13W-08 TCGA-DK-A1AB-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f0fb2ba-0351-4ce0-8b74-31aa3deecae1 6bb1a3eb-1659-4df1-935d-f8b2d710ace4 g.chr9:119460323G>A ENST00000450136.1 + 2 463 c.302G>A c.(301-303)cGg>cAg p.R101Q ASTN2_ENST00000361477.3_Intron|ASTN2_ENST00000313400.4_Intron|ASTN2_ENST00000373996.3_Intron|ASTN2_ENST00000361209.2_Intron|TRIM32_ENST00000373983.2_Missense_Mutation_p.R101Q NM_001099679.1|NM_012210.3 NP_001093149.1|NP_036342.2 Q13049 TRI32_HUMAN tripartite motif containing 32 101 fat cell differentiation|innate immune response|negative regulation of apoptosis|negative regulation of fibroblast proliferation|positive regulation of cell cycle|positive regulation of cell growth|positive regulation of cell migration|positive regulation of neurogenesis|positive regulation of neuron differentiation|positive regulation of NF-kappaB transcription factor activity|positive regulation of protein catabolic process|positive regulation of proteolysis|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to tumor necrosis factor|response to UV nucleus myosin binding|protein self-association|RNA binding|Tat protein binding|transcription coactivator activity|translation initiation factor binding|ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding p.R101Q(1) breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(5)|liver(1)|lung(6)|prostate(1)|skin(2)|urinary_tract(1) 26 CTCATGTGTCGGTCCTGTGGG 0.597000 25 78 0 0 0.134883 0 0 TMEM37 140738 broad.mit.edu 37 2 120194518 120194518 + Silent SNP C C T TCGA-DK-A1AB-01A-11D-A13W-08 TCGA-DK-A1AB-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f0fb2ba-0351-4ce0-8b74-31aa3deecae1 6bb1a3eb-1659-4df1-935d-f8b2d710ace4 g.chr2:120194518C>T ENST00000306406.4 + 2 110 c.75C>T c.(73-75)ttC>ttT p.F25F TMEM37_ENST00000409826.1_Silent_p.F37F|TMEM37_ENST00000465296.1_3'UTR NM_183240.2 NP_899063.2 Q8WXS4 CCGL_HUMAN transmembrane protein 37 25 integral to membrane calcium channel activity|voltage-gated ion channel activity p.F25F(1) breast(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1) 11 TTGAATCCTTCATCCGGACCC 0.617000 37 57 0 0 0.064281 0 0 TP53 7157 broad.mit.edu 37 17 7577085 7577085 + Missense_Mutation SNP C C T rs112431538 TCGA-DK-A1AB-01A-11D-A13W-08 TCGA-DK-A1AB-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f0fb2ba-0351-4ce0-8b74-31aa3deecae1 6bb1a3eb-1659-4df1-935d-f8b2d710ace4 g.chr17:7577085C>T ENST00000420246.2 - 8 985 c.853G>A c.(853-855)Gag>Aag p.E285K TP53_ENST00000445888.2_Missense_Mutation_p.E285K|TP53_ENST00000359597.4_Missense_Mutation_p.E285K|TP53_ENST00000455263.2_Missense_Mutation_p.E285K|TP53_ENST00000413465.2_Intron|TP53_ENST00000269305.4_Missense_Mutation_p.E285K NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 285 Interaction with AXIN1 (By similarity).|Interaction with E4F1.|Interaction with HIPK1 (By similarity). E -> A (in a sporadic cancer; somatic mutation).|E -> D (in sporadic cancers; somatic mutation).|E -> G (in sporadic cancers; somatic mutation).|E -> K (in sporadic cancers; somatic mutation).|E -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation).|E -> V (in sporadic cancers; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.E285K(111)|p.E285*(24)|p.0?(8)|p.E285Q(4)|p.?(2)|p.R283fs*16(2)|p.C275fs*20(1)|p.R282_E287delRRTEEE(1)|p.L265_K305del41(1)|p.T284fs*57(1)|p.T284_G293del10(1)|p.E285_L289delEEENL(1)|p.E285fs*60(1)|p.G279fs*59(1)|p.R283fs*56(1)|p.E285fs*20(1)|p.E285fs*13(1)|p.R283fs*59(1)|p.V272_K292del21(1)|p.E285_N288delEEEN(1) NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79) 24185 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) TTCTCTTCCTCTGTGCGCCGG 0.562000 111 """Mis, N, F""" """breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types""" """breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types""" Other conserved DNA damage response genes Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 14 24 0 0 0.132662 0 0 CAD 790 broad.mit.edu 37 2 27460592 27460592 + Missense_Mutation SNP G G A TCGA-DK-A1AB-01A-11D-A13W-08 TCGA-DK-A1AB-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f0fb2ba-0351-4ce0-8b74-31aa3deecae1 6bb1a3eb-1659-4df1-935d-f8b2d710ace4 g.chr2:27460592G>A ENST00000264705.4 + 29 4732 c.4570G>A c.(4570-4572)Gag>Aag p.E1524K CAD_ENST00000403525.1_Missense_Mutation_p.E1461K NM_004341.3 NP_004332.2 P27708 PYR1_HUMAN carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase 1524 DHOase (dihydroorotase). 'de novo' pyrimidine base biosynthetic process|drug metabolic process|glutamine metabolic process|peptidyl-threonine phosphorylation|protein autophosphorylation|pyrimidine nucleoside biosynthetic process|pyrimidine nucleotide biosynthetic process cytosol|neuronal cell body|nuclear matrix|terminal button aspartate binding|aspartate carbamoyltransferase activity|ATP binding|carbamoyl-phosphate synthase (glutamine-hydrolyzing) activity|dihydroorotase activity|enzyme binding|identical protein binding|metal ion binding|protein kinase activity p.E1524K(1) NS(1)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(40)|ovary(6)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 92 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) L-Aspartic Acid(DB00128)|L-Glutamine(DB00130) CCAGCTGGCAGAGGCTGGCGC 0.647000 12 32 0 0 0.093190 0 0 HERC2P2 400322 broad.mit.edu 37 15 23313237 23313237 + RNA SNP G G A TCGA-DK-A1AB-01A-11D-A13W-08 TCGA-DK-A1AB-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f0fb2ba-0351-4ce0-8b74-31aa3deecae1 6bb1a3eb-1659-4df1-935d-f8b2d710ace4 g.chr15:23313237G>A ENST00000560464.1 - 0 3006 GCGTGAGAGCGATGCTCTGCA 0.612000 4 10 0 0 0.021553 0 0 DGKB 1607 broad.mit.edu 37 7 14733765 14733765 + Silent SNP G G A TCGA-DK-A1AB-01A-11D-A13W-08 TCGA-DK-A1AB-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f0fb2ba-0351-4ce0-8b74-31aa3deecae1 6bb1a3eb-1659-4df1-935d-f8b2d710ace4 g.chr7:14733765G>A ENST00000403951.2 - 9 1065 c.646C>T c.(646-648)Ctg>Ttg p.L216L DGKB_ENST00000402815.1_Silent_p.L216L|DGKB_ENST00000406247.3_Silent_p.L216L|DGKB_ENST00000407950.1_Silent_p.L209L|DGKB_ENST00000403963.1_5'UTR|DGKB_ENST00000399322.3_Silent_p.L216L|DGKB_ENST00000444700.2_Silent_p.L209L|DGKB_ENST00000258767.5_Silent_p.L216L Q9Y6T7 DGKB_HUMAN diacylglycerol kinase, beta 90kDa 216 EF-hand 2. activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation cytoplasm|plasma membrane ATP binding|calcium ion binding|diacylglycerol kinase activity|protein binding p.L216L(1) NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(34)|ovary(4)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 72 Phosphatidylserine(DB00144) CATTCCTCCAGAGACACGGTT 0.443000 6 7 0 0 0.038147 0 0 NDST2 8509 broad.mit.edu 37 10 75568098 75568098 + Missense_Mutation SNP G G A TCGA-DK-A1AB-01A-11D-A13W-08 TCGA-DK-A1AB-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f0fb2ba-0351-4ce0-8b74-31aa3deecae1 6bb1a3eb-1659-4df1-935d-f8b2d710ace4 g.chr10:75568098G>A ENST00000603027.1 - 3 672 c.49C>T c.(49-51)Cac>Tac p.H17Y NDST2_ENST00000309979.6_Missense_Mutation_p.H17Y|NDST2_ENST00000299641.4_Intron 17 p.H17Y(1) ATGAGGCGGTGCAGTTCCAGC 0.622000 3 4 0 0 0.115264 0 0 ZNF493 284443 broad.mit.edu 37 19 21606279 21606279 + Missense_Mutation SNP C C G TCGA-DK-A1AB-01A-11D-A13W-08 TCGA-DK-A1AB-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f0fb2ba-0351-4ce0-8b74-31aa3deecae1 6bb1a3eb-1659-4df1-935d-f8b2d710ace4 g.chr19:21606279C>G ENST00000392288.2 + 4 927 c.818C>G c.(817-819)tCt>tGt p.S273C CTD-2561J22.3_ENST00000600810.1_Intron|ZNF493_ENST00000355504.4_Missense_Mutation_p.S145C NM_001076678.2 NP_001070146.1 Q6ZR52 ZN493_HUMAN zinc finger protein 493 145 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.S273C(1)|p.S145C(1) central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 30 TGTGGCACATCTTTCTACCAA 0.348000 31 106 0 0 0.144211 0 0 SNHG14 104472715 broad.mit.edu 37 15 25322274 25322274 + RNA SNP C C T TCGA-DK-A1AB-01A-11D-A13W-08 TCGA-DK-A1AB-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f0fb2ba-0351-4ce0-8b74-31aa3deecae1 6bb1a3eb-1659-4df1-935d-f8b2d710ace4 g.chr15:25322274C>T ENST00000549804.2 + 0 1243 SNORD116-12_ENST00000384468.1_RNA CCATCATCCTCATTGAACTGA 0.433000 18 72 0 0 0.033300 0 0 CCDC135 84229 broad.mit.edu 37 16 57757006 57757006 + Missense_Mutation SNP G G A TCGA-DK-A1AB-01A-11D-A13W-08 TCGA-DK-A1AB-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f0fb2ba-0351-4ce0-8b74-31aa3deecae1 6bb1a3eb-1659-4df1-935d-f8b2d710ace4 g.chr16:57757006G>A ENST00000360716.3 + 12 1722 c.1501G>A c.(1501-1503)Gac>Aac p.D501N CCDC135_ENST00000336825.8_Missense_Mutation_p.D436N|CCDC135_ENST00000394337.4_Missense_Mutation_p.D501N Q8IY82 CC135_HUMAN coiled-coil domain containing 135 501 cytoplasm p.D501N(1) breast(1)|central_nervous_system(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 30 CCTGAAGACAGACTACTTCAA 0.577000 31 75 0 0 0.144211 0 0 COL6A3 1293 broad.mit.edu 37 2 238283544 238283544 + Missense_Mutation SNP G G A TCGA-DK-A1AB-01A-11D-A13W-08 TCGA-DK-A1AB-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f0fb2ba-0351-4ce0-8b74-31aa3deecae1 6bb1a3eb-1659-4df1-935d-f8b2d710ace4 g.chr2:238283544G>A ENST00000295550.4 - 8 3642 c.3190C>T c.(3190-3192)Cgg>Tgg p.R1064W COL6A3_ENST00000392004.3_Missense_Mutation_p.R858W|COL6A3_ENST00000472056.1_Missense_Mutation_p.R457W|COL6A3_ENST00000409809.1_Missense_Mutation_p.R858W|COL6A3_ENST00000346358.4_Missense_Mutation_p.R864W|COL6A3_ENST00000392003.2_Missense_Mutation_p.R657W|COL6A3_ENST00000347401.3_Missense_Mutation_p.R863W|COL6A3_ENST00000353578.4_Missense_Mutation_p.R858W NM_004369.3 NP_004360.2 P12111 CO6A3_HUMAN collagen, type VI, alpha 3 1064 Nonhelical region.|VWFA 6. R -> Q (in UCMD). axon guidance|cell adhesion|muscle organ development collagen type VI|extracellular space serine-type endopeptidase inhibitor activity p.R1064W(2)|p.R858W(1) breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4) 217 Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203) Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034) ACGCGGACCCGGTCCTGGCCC 0.592000 13 31 0 0 0.105934 0 0 RPS6KC1 26750 broad.mit.edu 37 1 213303065 213303065 + Missense_Mutation SNP G G A TCGA-DK-A1AB-01A-11D-A13W-08 TCGA-DK-A1AB-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f0fb2ba-0351-4ce0-8b74-31aa3deecae1 6bb1a3eb-1659-4df1-935d-f8b2d710ace4 g.chr1:213303065G>A ENST00000366960.3 + 6 818 c.668G>A c.(667-669)cGt>cAt p.R223H RPS6KC1_ENST00000543354.1_Intron|RPS6KC1_ENST00000490299.1_3'UTR|RPS6KC1_ENST00000366959.3_Missense_Mutation_p.R211H|RPS6KC1_ENST00000543470.1_Missense_Mutation_p.R42H NM_012424.3 NP_036556.2 Q96S38 KS6C1_HUMAN ribosomal protein S6 kinase, 52kDa, polypeptide 1 223 cell communication|signal transduction early endosome|membrane ATP binding|phosphatidylinositol binding|protein binding|protein serine/threonine kinase activity p.R223fs*8(2)|p.R223H(1) breast(1)|endometrium(6)|kidney(4)|large_intestine(8)|liver(2)|lung(15)|ovary(3)|prostate(1)|urinary_tract(3) 43 OV - Ovarian serous cystadenocarcinoma(81;0.00705)|all cancers(67;0.016)|GBM - Glioblastoma multiforme(131;0.0663)|Epithelial(68;0.145) CGGGAAAGTCGTAGCCTCTTT 0.413000 30 74 0 0 0.045705 0 0 ZFHX4 79776 broad.mit.edu 37 8 77764240 77764240 + Nonsense_Mutation SNP C C T TCGA-DK-A1AB-01A-11D-A13W-08 TCGA-DK-A1AB-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f0fb2ba-0351-4ce0-8b74-31aa3deecae1 6bb1a3eb-1659-4df1-935d-f8b2d710ace4 g.chr8:77764240C>T ENST00000521891.2 + 10 5531 c.5083C>T c.(5083-5085)Cag>Tag p.Q1695* ZFHX4_ENST00000050961.6_Nonsense_Mutation_p.Q1650*|ZFHX4_ENST00000518282.1_Nonsense_Mutation_p.Q1669*|ZFHX4_ENST00000455469.2_Nonsense_Mutation_p.Q1650* NM_024721.4 NP_078997.4 Q86UP3 ZFHX4_HUMAN zinc finger homeobox 4 1650 Gln-rich. nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.Q1695*(1) NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6) 432 BRCA - Breast invasive adenocarcinoma(89;0.0895) AGCACAAATTCAGATGCAACT 0.428000 HNSCC(33;0.089) 23 61 0 0 0.069288 0 0 DSC1 1823 broad.mit.edu 37 18 28710778 28710778 + Silent SNP C C G TCGA-DK-A1AB-01A-11D-A13W-08 TCGA-DK-A1AB-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f0fb2ba-0351-4ce0-8b74-31aa3deecae1 6bb1a3eb-1659-4df1-935d-f8b2d710ace4 g.chr18:28710778C>G ENST00000257197.3 - 16 2772 c.2511G>C c.(2509-2511)ctG>ctC p.L837L RP11-408H20.2_ENST00000581836.1_RNA|DSC1_ENST00000257198.5_Intron NM_004948.3 NP_004939.1 Q08554 DSC1_HUMAN desmocollin 1 0 homophilic cell adhesion desmosome|gap junction|integral to membrane|membrane fraction calcium ion binding p.L837L(1) breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 53 OV - Ovarian serous cystadenocarcinoma(10;0.00778) AATTTTTAATCAGAGTGTGTC 0.254000 25 69 0 0 0.083992 0 0 CDH4 1002 broad.mit.edu 37 20 60419818 60419818 + Missense_Mutation SNP C C G TCGA-DK-A1AB-01A-11D-A13W-08 TCGA-DK-A1AB-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f0fb2ba-0351-4ce0-8b74-31aa3deecae1 6bb1a3eb-1659-4df1-935d-f8b2d710ace4 g.chr20:60419818C>G ENST00000360469.5 + 5 759 c.671C>G c.(670-672)tCc>tGc p.S224C CDH4_ENST00000543233.1_Missense_Mutation_p.S150C NM_001794.3 NP_001785.2 P55283 CADH4_HUMAN cadherin 4, type 1, R-cadherin (retinal) 224 Cadherin 1. adherens junction organization|cell junction assembly calcium ion binding p.S224C(1) NS(2)|breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(2)|lung(25)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 74 BRCA - Breast invasive adenocarcinoma(19;2.36e-08) AGCATTGACTCCATGTCCGGC 0.617000 15 34 0 0 0.146539 0 0 IFT88 8100 broad.mit.edu 37 13 21157156 21157156 + Missense_Mutation SNP C C T TCGA-DK-A1AB-01A-11D-A13W-08 TCGA-DK-A1AB-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f0fb2ba-0351-4ce0-8b74-31aa3deecae1 6bb1a3eb-1659-4df1-935d-f8b2d710ace4 g.chr13:21157156C>T ENST00000382778.4 + 4 1296 c.178C>T c.(178-180)Cca>Tca p.P60S IFT88_ENST00000351808.5_Missense_Mutation_p.P51S|IFT88_ENST00000537103.1_Missense_Mutation_p.P51S|IFT88_ENST00000319980.6_Missense_Mutation_p.P60S Q13099 IFT88_HUMAN intraflagellar transport 88 homolog (Chlamydomonas) 60 cilium morphogenesis centriole|intraflagellar transport particle B|microtubule basal body|microtubule-based flagellum protein binding p.P60S(1) breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1) 27 all_cancers(29;5.79e-25)|all_epithelial(30;2.57e-20)|all_lung(29;3.13e-16)|Lung SC(185;0.0262)|Ovarian(182;0.0825)|Hepatocellular(188;0.244) all cancers(112;0.000667)|Epithelial(112;0.00119)|OV - Ovarian serous cystadenocarcinoma(117;0.0141)|Lung(94;0.0183)|LUSC - Lung squamous cell carcinoma(192;0.0528) CAGAAGACCTCCAGTAAGTGA 0.318000 20 68 0 0 0.043863 0 0 YY1AP1 55249 broad.mit.edu 37 1 155629585 155629585 + Missense_Mutation SNP C C T TCGA-DK-A1AB-01A-11D-A13W-08 TCGA-DK-A1AB-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f0fb2ba-0351-4ce0-8b74-31aa3deecae1 6bb1a3eb-1659-4df1-935d-f8b2d710ace4 g.chr1:155629585C>T ENST00000368340.5 - 10 2578 c.2470G>A c.(2470-2472)Gag>Aag p.E824K YY1AP1_ENST00000535662.1_Missense_Mutation_p.E552K|YY1AP1_ENST00000407221.1_Missense_Mutation_p.E675K|YY1AP1_ENST00000295566.4_Missense_Mutation_p.E752K|MSTO1_ENST00000452804.2_Intron|YY1AP1_ENST00000368330.2_Missense_Mutation_p.E706K|MSTO1_ENST00000538143.1_Intron|YY1AP1_ENST00000347088.5_Missense_Mutation_p.E706K|YY1AP1_ENST00000355499.4_Missense_Mutation_p.E706K|YY1AP1_ENST00000404643.1_Missense_Mutation_p.E686K|YY1AP1_ENST00000311573.5_Missense_Mutation_p.E675K|YY1AP1_ENST00000368339.5_Missense_Mutation_p.E844K|YY1AP1_ENST00000361831.5_Missense_Mutation_p.E695K|YY1AP1_ENST00000359205.5_Missense_Mutation_p.E695K NM_001198904.1 NP_001185833.1 YY1 associated protein 1 p.E844K(1)|p.E752K(1) central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(7)|ovary(2)|skin(2)|urinary_tract(2) 31 Hepatocellular(266;0.0997)|all_hematologic(923;0.145) CTTCCCTCCTCTGTTTTCACA 0.537000 30 99 0 0 0.134883 0 0 ADCY2 108 broad.mit.edu 37 5 7817056 7817056 + Silent SNP C C T TCGA-DK-A1AB-01A-11D-A13W-08 TCGA-DK-A1AB-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f0fb2ba-0351-4ce0-8b74-31aa3deecae1 6bb1a3eb-1659-4df1-935d-f8b2d710ace4 g.chr5:7817056C>T ENST00000338316.4 + 23 3050 c.2961C>T c.(2959-2961)atC>atT p.I987I ADCY2_ENST00000537121.1_Silent_p.I807I NM_020546.2 NP_065433.2 Q08462 ADCY2_HUMAN adenylate cyclase 2 (brain) 987 activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport cytoplasm|dendrite|integral to membrane|plasma membrane ATP binding|metal ion binding p.I987I(1) NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7) 119 TGGATGCCATCAACAAGCACT 0.502000 OREG0016499 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 15 52 0 0 0.132662 0 0 ANKRD30A 91074 broad.mit.edu 37 10 37478443 37478443 + Missense_Mutation SNP A A G TCGA-DK-A1AB-01A-11D-A13W-08 TCGA-DK-A1AB-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f0fb2ba-0351-4ce0-8b74-31aa3deecae1 6bb1a3eb-1659-4df1-935d-f8b2d710ace4 g.chr10:37478443A>G ENST00000374660.1 + 31 2758 c.2659A>G c.(2659-2661)Acg>Gcg p.T887A ANKRD30A_ENST00000602533.1_Missense_Mutation_p.T768A|ANKRD30A_ENST00000361713.1_Missense_Mutation_p.T768A|ANKRD30A_ENST00000475522.1_3'UTR Q9BXX3 AN30A_HUMAN ankyrin repeat domain 30A 943 nucleus DNA binding|sequence-specific DNA binding transcription factor activity p.T768A(2) NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3) 158 ACCCAAGGCTACGCATCAAAA 0.289000 3 53 0 0 0.115264 0 0 PHACTR4 65979 broad.mit.edu 37 1 28786756 28786756 + Missense_Mutation SNP G G C TCGA-DK-A1AB-01A-11D-A13W-08 TCGA-DK-A1AB-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f0fb2ba-0351-4ce0-8b74-31aa3deecae1 6bb1a3eb-1659-4df1-935d-f8b2d710ace4 g.chr1:28786756G>C ENST00000373839.3 + 4 485 c.224G>C c.(223-225)aGa>aCa p.R75T PHACTR4_ENST00000493669.1_3'UTR|PHACTR4_ENST00000373836.3_Missense_Mutation_p.R85T NM_001048183.1 NP_001041648.1 Q8IZ21 PHAR4_HUMAN phosphatase and actin regulator 4 75 actin binding|protein phosphatase inhibitor activity p.R85T(1) NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|ovary(3)|skin(1)|urinary_tract(1) 32 Colorectal(325;3.46e-05)|Lung NSC(340;4.37e-05)|all_lung(284;7.01e-05)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261) OV - Ovarian serous cystadenocarcinoma(117;1.35e-21)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00273)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0144)|READ - Rectum adenocarcinoma(331;0.0649) CGAAAGCCAAGAGAAGAGCTG 0.388000 8 39 0 0 0.058154 0 0 RNPS1 10921 broad.mit.edu 37 16 2312402 2312402 + Missense_Mutation SNP C C T TCGA-DK-A1AB-01A-11D-A13W-08 TCGA-DK-A1AB-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f0fb2ba-0351-4ce0-8b74-31aa3deecae1 6bb1a3eb-1659-4df1-935d-f8b2d710ace4 g.chr16:2312402C>T ENST00000565678.1 - 6 1098 c.553G>A c.(553-555)Ggg>Agg p.G185R RNPS1_ENST00000320225.5_Missense_Mutation_p.G185R|RNPS1_ENST00000301730.8_Missense_Mutation_p.G185R|RNPS1_ENST00000569598.2_Missense_Mutation_p.G91R|RNPS1_ENST00000397086.2_Missense_Mutation_p.G185R|RNPS1_ENST00000566397.1_Missense_Mutation_p.G8R|RNPS1_ENST00000566458.1_Missense_Mutation_p.G162R|RNPS1_ENST00000561718.1_Missense_Mutation_p.G8R|RNPS1_ENST00000567147.1_Missense_Mutation_p.G162R|RNPS1_ENST00000568631.1_Missense_Mutation_p.G185R Q15287 RNPS1_HUMAN RNA binding protein S1, serine-rich domain 185 Necessary for interaction with PNN and exon-skipping.|Necessary for interaction with the cleaved p110 isoform of CDC2L1.|RRM. mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|termination of RNA polymerase II transcription cytosol|nuclear speck mRNA 3'-UTR binding|nucleotide binding|protein binding p.G185R(1) endometrium(1)|large_intestine(1)|lung(4)|ovary(2)|urinary_tract(1) 9 TTAATTTTCCCATAGGTGGAA 0.488000 23 50 0 0 0.062417 0 0 TBC1D17 79735 broad.mit.edu 37 19 50387619 50387619 + Silent SNP C C T TCGA-DK-A1AB-01A-11D-A13W-08 TCGA-DK-A1AB-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f0fb2ba-0351-4ce0-8b74-31aa3deecae1 6bb1a3eb-1659-4df1-935d-f8b2d710ace4 g.chr19:50387619C>T ENST00000221543.5 + 11 1535 c.1236C>T c.(1234-1236)ttC>ttT p.F412F TBC1D17_ENST00000535102.2_Silent_p.F379F NM_024682.2 NP_078958 Q9HA65 TBC17_HUMAN TBC1 domain family, member 17 412 Rab-GAP TBC. intracellular Rab GTPase activator activity p.F412F(1) NS(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 15 all_lung(116;0.000338)|Lung NSC(112;0.000446)|all_neural(266;0.107)|Ovarian(192;0.231) GBM - Glioblastoma multiforme(134;0.0116)|OV - Ovarian serous cystadenocarcinoma(262;0.017) TGTATCACTTCGACCTCGGTG 0.662000 51 207 0 0 0.139131 0 0 SRBD1 55133 broad.mit.edu 37 2 45826690 45826690 + Missense_Mutation SNP C C G TCGA-DK-A1AB-01A-11D-A13W-08 TCGA-DK-A1AB-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f0fb2ba-0351-4ce0-8b74-31aa3deecae1 6bb1a3eb-1659-4df1-935d-f8b2d710ace4 g.chr2:45826690C>G ENST00000263736.4 - 4 608 c.546G>C c.(544-546)aaG>aaC p.K182N NM_018079.4 NP_060549.4 Q8N5C6 SRBD1_HUMAN S1 RNA binding domain 1 182 nucleobase, nucleoside, nucleotide and nucleic acid metabolic process hydrolase activity, acting on ester bonds|RNA binding p.K182N(1) NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(13)|large_intestine(8)|lung(15)|skin(2)|stomach(1)|urinary_tract(1) 49 all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17) LUSC - Lung squamous cell carcinoma(58;0.0917)|Lung(47;0.154) TCTTGATTTTCTTTAAAGCGG 0.443000 56 254 0 0 0.139131 0 0 HECTD4 283450 broad.mit.edu 37 12 112664513 112664513 + Missense_Mutation SNP C C G TCGA-DK-A1AB-01A-11D-A13W-08 TCGA-DK-A1AB-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f0fb2ba-0351-4ce0-8b74-31aa3deecae1 6bb1a3eb-1659-4df1-935d-f8b2d710ace4 g.chr12:112664513C>G ENST00000550722.1 - 44 6861 c.6466G>C c.(6466-6468)Gaa>Caa p.E2156Q HECTD4_ENST00000430131.2_Missense_Mutation_p.E1880Q|HECTD4_ENST00000377560.5_Missense_Mutation_p.E2130Q NM_001109662.3 NP_001103132.3 HECT domain containing E3 ubiquitin protein ligase 4 p.E1880Q(1)|p.E2130Q(1) TGTATGAATTCTTCACAAAAT 0.398000 12 26 0 0 0.080935 0 0 ARID5B 84159 broad.mit.edu 37 10 63852251 63852251 + Missense_Mutation SNP G G A rs137983907 TCGA-DK-A1AB-01A-11D-A13W-08 TCGA-DK-A1AB-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f0fb2ba-0351-4ce0-8b74-31aa3deecae1 6bb1a3eb-1659-4df1-935d-f8b2d710ace4 g.chr10:63852251G>A ENST00000279873.7 + 10 3439 c.3029G>A c.(3028-3030)cGg>cAg p.R1010Q ARID5B_ENST00000309334.5_Missense_Mutation_p.R767Q NM_032199.2 NP_115575.1 Q14865 ARI5B_HUMAN AT rich interactive domain 5B (MRF1-like) 1010 liver development|negative regulation of transcription, DNA-dependent|positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent protein binding|transcription regulatory region DNA binding p.R1010Q(1) NS(1)|breast(2)|endometrium(13)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 44 Prostate(12;0.016)|all_hematologic(501;0.215) GGGGCGGCGCGGCCGATCAAG 0.567000 23 77 0 0 0.116897 0 0 ACN9 57001 broad.mit.edu 37 7 96810512 96810512 + Missense_Mutation SNP G G C TCGA-DK-A1AB-01A-11D-A13W-08 TCGA-DK-A1AB-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f0fb2ba-0351-4ce0-8b74-31aa3deecae1 6bb1a3eb-1659-4df1-935d-f8b2d710ace4 g.chr7:96810512G>C ENST00000432641.2 + 2 1497 c.363G>C c.(361-363)atG>atC p.M121I ACN9_ENST00000360382.4_3'UTR|ACN9_ENST00000479853.1_3'UTR NM_020186.2 NP_064571.1 Q9NRP4 ACN9_HUMAN ACN9 homolog (S. cerevisiae) 121 regulation of gluconeogenesis mitochondrial intermembrane space p.M121I(1) large_intestine(1)|lung(4)|ovary(1)|skin(1)|urinary_tract(3) 10 all_cancers(62;2.54e-08)|all_epithelial(64;2.24e-08)|Esophageal squamous(72;0.00507)|all_lung(186;0.154)|Lung NSC(181;0.159) CTGAGTCTATGAAACCAAAAT 0.318000 9 30 0 0 0.058154 0 0 NTSR2 23620 broad.mit.edu 37 2 11798719 11798719 + Silent SNP G G A TCGA-DK-A1AB-01A-11D-A13W-08 TCGA-DK-A1AB-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f0fb2ba-0351-4ce0-8b74-31aa3deecae1 6bb1a3eb-1659-4df1-935d-f8b2d710ace4 g.chr2:11798719G>A ENST00000306928.5 - 4 1153 c.1119C>T c.(1117-1119)gtC>gtT p.V373V NM_012344.3 NP_036476 O95665 NTR2_HUMAN neurotensin receptor 2 373 sensory perception integral to plasma membrane p.V373V(1) breast(1)|large_intestine(7)|lung(7)|prostate(1)|urinary_tract(1) 17 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) Epithelial(75;0.129)|OV - Ovarian serous cystadenocarcinoma(76;0.24) Levocabastine(DB01106) ACAGGGAGCTGACGGCTTCCA 0.562000 21 66 0 0 0.083992 0 0 AHR 196 broad.mit.edu 37 7 17378911 17378911 + Nonsense_Mutation SNP G G T TCGA-DK-A1AB-01A-11D-A13W-08 TCGA-DK-A1AB-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f0fb2ba-0351-4ce0-8b74-31aa3deecae1 6bb1a3eb-1659-4df1-935d-f8b2d710ace4 g.chr7:17378911G>T ENST00000242057.4 + 10 2105 c.1462G>T c.(1462-1464)Gaa>Taa p.E488* AHR_ENST00000492120.1_3'UTR NM_001621.4 NP_001612.1 P35869 AHR_HUMAN aryl hydrocarbon receptor 488 apoptosis|blood vessel development|cell cycle|regulation of B cell proliferation|response to stress|transcription from RNA polymerase II promoter|xenobiotic metabolic process cytosolic aryl hydrocarbon receptor complex|transcription factor complex Hsp90 protein binding|ligand-dependent nuclear receptor activity|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding p.E488*(1) NS(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(11)|ovary(1)|pancreas(1)|urinary_tract(3) 33 Lung NSC(10;0.0392)|all_lung(11;0.0754) CTTTTTCAACGAATCTATGAA 0.398000 44 122 8.01111e-26 8.93325e-26 0.117977 1 0 INF2 64423 broad.mit.edu 37 14 105181636 105181636 + Missense_Mutation SNP C C T TCGA-DK-A1AB-01A-11D-A13W-08 TCGA-DK-A1AB-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f0fb2ba-0351-4ce0-8b74-31aa3deecae1 6bb1a3eb-1659-4df1-935d-f8b2d710ace4 g.chr14:105181636C>T ENST00000392634.4 + 22 3822 c.3710C>T c.(3709-3711)tCt>tTt p.S1237F INF2_ENST00000330634.7_Intron NM_022489.3 NP_071934.3 Q27J81 INF2_HUMAN inverted formin, FH2 and WH2 domain containing 1237 actin cytoskeleton organization endoplasmic reticulum|nucleus|perinuclear region of cytoplasm actin binding|Rho GTPase binding p.S1237F(1) large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 8 all_cancers(154;0.0896)|Melanoma(154;0.155)|all_epithelial(191;0.172) all cancers(16;0.00188)|OV - Ovarian serous cystadenocarcinoma(23;0.0191)|Epithelial(46;0.047)|GBM - Glioblastoma multiforme(11;0.116) Epithelial(152;0.176) CCCCCTGATTCTGATGATAAT 0.557000 48 132 0 0 0.139131 0 0 USP13 8975 broad.mit.edu 37 3 179399668 179399668 + Missense_Mutation SNP T T A TCGA-DK-A1AB-01A-11D-A13W-08 TCGA-DK-A1AB-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f0fb2ba-0351-4ce0-8b74-31aa3deecae1 6bb1a3eb-1659-4df1-935d-f8b2d710ace4 g.chr3:179399668T>A ENST00000263966.3 + 2 642 c.171T>A c.(169-171)aaT>aaA p.N57K USP13_ENST00000496897.1_5'UTR|USP13_ENST00000482333.1_3'UTR NM_003940.2 NP_003931.2 Q92995 UBP13_HUMAN ubiquitin specific peptidase 13 (isopeptidase T-3) 57 ubiquitin-dependent protein catabolic process cysteine-type endopeptidase activity|omega peptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding p.N57K(1) central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3) 46 all_cancers(143;7.79e-15)|Ovarian(172;0.0338)|Breast(254;0.148) OV - Ovarian serous cystadenocarcinoma(80;1e-25)|GBM - Glioblastoma multiforme(14;0.0169) TCTTCTAGAATTCTGAAGGTG 0.423000 73 205 0 0 0.139131 0 0 DDX18 8886 broad.mit.edu 37 2 118582552 118582552 + Silent SNP C C T TCGA-DK-A1AB-01A-11D-A13W-08 TCGA-DK-A1AB-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f0fb2ba-0351-4ce0-8b74-31aa3deecae1 6bb1a3eb-1659-4df1-935d-f8b2d710ace4 g.chr2:118582552C>T ENST00000263239.2 + 9 1371 c.1243C>T c.(1243-1245)Ctg>Ttg p.L415L NM_006773.3 NP_006764.3 Q9NVP1 DDX18_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 18 415 Helicase C-terminal. ATP binding|ATP-dependent RNA helicase activity|RNA binding p.L415L(1) breast(2)|endometrium(2)|kidney(4)|large_intestine(3)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 GAGATTCCTTCTGCTCTTTAC 0.368000 40 138 0 0 0.074837 0 0 IGLL5 100423062 broad.mit.edu 37 22 23237769 23237769 + Silent SNP G G A TCGA-DK-A1AB-01A-11D-A13W-08 TCGA-DK-A1AB-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f0fb2ba-0351-4ce0-8b74-31aa3deecae1 6bb1a3eb-1659-4df1-935d-f8b2d710ace4 g.chr22:23237769G>A ENST00000532223.2 + 3 817 c.543G>A c.(541-543)ctG>ctA p.L181L IGLL5_ENST00000526893.1_Silent_p.L180L|IGLC1_ENST00000390321.2_RNA|IGLL5_ENST00000531372.1_3'UTR B9A064 IGLL5_HUMAN immunoglobulin lambda-like polypeptide 5 C region (By similarity to lambda light- chain).|Ig-like C1-type. extracellular region p.L180L(1) breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|urinary_tract(1) 7 GCAGCTACCTGAGCCTGACGC 0.602000 10 24 0 0 0.058154 0 0 ZBTB45 84878 broad.mit.edu 37 19 59028353 59028353 + Missense_Mutation SNP C C T TCGA-DK-A1AB-01A-11D-A13W-08 TCGA-DK-A1AB-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f0fb2ba-0351-4ce0-8b74-31aa3deecae1 6bb1a3eb-1659-4df1-935d-f8b2d710ace4 g.chr19:59028353C>T ENST00000594051.1 - 2 1168 c.688G>A c.(688-690)Gag>Aag p.E230K ZBTB45_ENST00000354590.3_Missense_Mutation_p.E230K|ZBTB45_ENST00000600990.1_Missense_Mutation_p.E230K Q96K62 ZBT45_HUMAN zinc finger and BTB domain containing 45 230 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.E230K(1) breast(2)|endometrium(3)|lung(5)|urinary_tract(1) 11 all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0165)|Lung(386;0.18) GCCTGGCCCTCGCCTGGGCCG 0.672000 OREG0025700 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 51 270 0 0 0.139131 0 0 GALNT6 11226 broad.mit.edu 37 12 51759233 51759233 + Silent SNP G G A TCGA-DK-A1AB-01A-11D-A13W-08 TCGA-DK-A1AB-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f0fb2ba-0351-4ce0-8b74-31aa3deecae1 6bb1a3eb-1659-4df1-935d-f8b2d710ace4 g.chr12:51759233G>A ENST00000543196.2 - 4 1000 c.795C>T c.(793-795)ctC>ctT p.L265L GALNT6_ENST00000356317.3_Silent_p.L265L Q8NCL4 GALT6_HUMAN UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 6 (GalNAc-T6) 265 Catalytic subdomain A. protein O-linked glycosylation Golgi membrane|integral to membrane|perinuclear region of cytoplasm polypeptide N-acetylgalactosaminyltransferase activity|sugar binding p.L265L(1) endometrium(2)|large_intestine(6)|lung(7)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 27 CCAGGAACGTGAGCACCTCCG 0.677000 13 29 0 0 0.105934 0 0 CLPB 81570 broad.mit.edu 37 11 72145375 72145375 + Silent SNP C C G TCGA-DK-A1AB-01A-11D-A13W-08 TCGA-DK-A1AB-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f0fb2ba-0351-4ce0-8b74-31aa3deecae1 6bb1a3eb-1659-4df1-935d-f8b2d710ace4 g.chr11:72145375C>G ENST00000294053.3 - 1 317 c.144G>C c.(142-144)ctG>ctC p.L48L CLPB_ENST00000437826.2_5'UTR|CLPB_ENST00000543042.1_5'UTR|CLPB_ENST00000340729.5_Silent_p.L48L|CLPB_ENST00000445069.2_Intron|CLPB_ENST00000538039.1_Silent_p.L48L NM_001258394.1|NM_030813.4 NP_001245323.1|NP_110440.1 Q9H078 CLPB_HUMAN ClpB caseinolytic peptidase B homolog (E. coli) 48 cellular response to heat ATP binding|nucleoside-triphosphatase activity|protein binding p.L48L(1) endometrium(3)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1) 19 TGGCTACCCTCAGCCACTGCG 0.692000 OREG0021194 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 13 9 0 0 0.132662 0 0 OR2T6 254879 broad.mit.edu 37 1 248551413 248551413 + Missense_Mutation SNP C C G TCGA-DK-A1AB-01A-11D-A13W-08 TCGA-DK-A1AB-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f0fb2ba-0351-4ce0-8b74-31aa3deecae1 6bb1a3eb-1659-4df1-935d-f8b2d710ace4 g.chr1:248551413C>G ENST00000355728.2 + 1 504 c.504C>G c.(502-504)ttC>ttG p.F168L NM_001005471.1 NP_001005471.1 Q8NHC8 OR2T6_HUMAN olfactory receptor, family 2, subfamily T, member 6 168 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.F168L(1) endometrium(3)|large_intestine(5)|lung(38)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 55 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0265) GTCTCCCGTTCTGTGCCTCTC 0.532000 13 35 0 0 0.093190 0 0 ATP11A 23250 broad.mit.edu 37 13 113532599 113532599 + Silent SNP G G C TCGA-DK-A1AB-01A-11D-A13W-08 TCGA-DK-A1AB-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f0fb2ba-0351-4ce0-8b74-31aa3deecae1 6bb1a3eb-1659-4df1-935d-f8b2d710ace4 g.chr13:113532599G>C ENST00000487903.1 + 29 3484 c.3396G>C c.(3394-3396)ctG>ctC p.L1132L ATP11A_ENST00000375630.2_Intron|ATP11A_ENST00000283558.8_Silent_p.L1132L|ATP11A_ENST00000375645.3_Silent_p.L1132L P98196 AT11A_HUMAN ATPase, class VI, type 11A 1132 ATP biosynthetic process integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity p.L1132L(1) NS(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(12)|lung(17)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1) 51 all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163) all_lung(25;0.134)|all_epithelial(44;0.141) CCAGCAGCCTGAGTTTCTGAT 0.572000 17 47 0 0 0.038395 0 0 ESR2 2100 broad.mit.edu 37 14 64727309 64727309 + Silent SNP G G A TCGA-DK-A1AB-01A-11D-A13W-08 TCGA-DK-A1AB-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f0fb2ba-0351-4ce0-8b74-31aa3deecae1 6bb1a3eb-1659-4df1-935d-f8b2d710ace4 g.chr14:64727309G>A ENST00000557772.1 - 4 809 c.810C>T c.(808-810)ctC>ctT p.L270L ESR2_ENST00000267525.6_Silent_p.L270L|ESR2_ENST00000353772.3_Silent_p.L270L|ESR2_ENST00000357782.2_Silent_p.L270L|ESR2_ENST00000358599.5_Silent_p.L270L|ESR2_ENST00000553796.1_Silent_p.L270L|ESR2_ENST00000341099.4_Silent_p.L270L|ESR2_ENST00000555483.1_5'UTR|ESR2_ENST00000554572.1_Silent_p.L270L|ESR2_ENST00000555278.1_Silent_p.L270L|ESR2_ENST00000542956.1_Silent_p.L270L NM_001214903.1 NP_001201832.1 Q92731 ESR2_HUMAN estrogen receptor 2 (ER beta) 270 Steroid-binding. cell-cell signaling|negative regulation of cell growth|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor mitochondrion|nucleoplasm enzyme binding|estrogen receptor activity|receptor antagonist activity|sequence-specific DNA binding transcription factor activity|steroid binding|transcription coactivator activity|zinc ion binding p.L270L(2) central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1) 23 all cancers(60;0.00916)|OV - Ovarian serous cystadenocarcinoma(108;0.0111)|BRCA - Breast invasive adenocarcinoma(234;0.0437) Bicalutamide(DB01128)|Estradiol(DB00783)|Estramustine(DB01196)|Raloxifene(DB00481)|Tamoxifen(DB00675)|Trilostane(DB01108) CCAGGAGGGTGAGCACTAGCT 0.677000 21 30 0 0 0.055883 0 0 CYFIP1 23191 broad.mit.edu 37 15 22933811 22933811 + Silent SNP C C T TCGA-DK-A1AB-01A-11D-A13W-08 TCGA-DK-A1AB-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f0fb2ba-0351-4ce0-8b74-31aa3deecae1 6bb1a3eb-1659-4df1-935d-f8b2d710ace4 g.chr15:22933811C>T ENST00000313077.7 + 8 855 c.730C>T c.(730-732)Ctg>Ttg p.L244L CYFIP1_ENST00000560848.1_Silent_p.L244L NM_014608.2 NP_055423.1 Q7L576 CYFP1_HUMAN cytoplasmic FMR1 interacting protein 1 244 axon extension|lamellipodium assembly|regulation of cell shape|ruffle organization cell junction|lamellipodium|mRNA cap binding complex|perinuclear region of cytoplasm|ruffle|synapse|synaptosome actin filament binding|Rac GTPase binding p.L244L(1) endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|liver(1)|lung(14)|ovary(4)|pancreas(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 40 all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488) all cancers(64;2.22e-06)|Epithelial(43;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00101) TATTGTGAATCTGTGTGTGGA 0.522000 33 148 0 0 0.069456 0 0 DYRK1A 1859 broad.mit.edu 37 21 38862650 38862650 + Missense_Mutation SNP G G C TCGA-DK-A1AB-01A-11D-A13W-08 TCGA-DK-A1AB-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f0fb2ba-0351-4ce0-8b74-31aa3deecae1 6bb1a3eb-1659-4df1-935d-f8b2d710ace4 g.chr21:38862650G>C ENST00000339659.4 + 6 2281 c.811G>C c.(811-813)Gaa>Caa p.E271Q DYRK1A_ENST00000451934.1_Missense_Mutation_p.E280Q|DYRK1A_ENST00000455387.2_Missense_Mutation_p.E52Q|DYRK1A_ENST00000321219.8_Missense_Mutation_p.E280Q|DYRK1A_ENST00000398956.2_Missense_Mutation_p.E280Q|DYRK1A_ENST00000338785.3_Missense_Mutation_p.E280Q|DYRK1A_ENST00000398960.2_Missense_Mutation_p.E280Q NM_130436.2 NP_569120.1 Q13627 DYR1A_HUMAN dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1A Protein kinase. nervous system development|peptidyl-tyrosine phosphorylation|protein autophosphorylation nuclear speck ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding|protein self-association|protein serine/threonine kinase activity p.E280Q(1) breast(4)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(10)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 42 TGCGACTCCAGAACTTAGTAT 0.428000 5 124 0 0 0.014758 0 0 KLK3 354 broad.mit.edu 37 19 51361378 51361378 + Silent SNP C C G rs2739452 TCGA-DK-A1AB-01A-11D-A13W-08 TCGA-DK-A1AB-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f0fb2ba-0351-4ce0-8b74-31aa3deecae1 6bb1a3eb-1659-4df1-935d-f8b2d710ace4 g.chr19:51361378C>G ENST00000360617.3 + 3 300 c.300C>G c.(298-300)ctC>ctG p.L100L KLK3_ENST00000595952.1_Intron|KLK3_ENST00000326003.2_Silent_p.L100L|KLK3_ENST00000597483.1_Intron|KLK3_ENST00000593997.1_Silent_p.L100L P07288 KLK3_HUMAN kallikrein-related peptidase 3 100 Peptidase S1. negative regulation of angiogenesis|proteolysis extracellular region serine-type endopeptidase activity p.L100L(2) breast(1)|cervix(2)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 24 all_neural(266;0.057) OV - Ovarian serous cystadenocarcinoma(262;0.00763)|GBM - Glioblastoma multiforme(134;0.0144) CACACCCGCTCTACGATATGA 0.582000 6 46 0 0 0.021553 0 0 SOX7 83595 broad.mit.edu 37 8 10584142 10584142 + Missense_Mutation SNP C C G TCGA-DK-A1AB-01A-11D-A13W-08 TCGA-DK-A1AB-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f0fb2ba-0351-4ce0-8b74-31aa3deecae1 6bb1a3eb-1659-4df1-935d-f8b2d710ace4 g.chr8:10584142C>G ENST00000304501.1 - 2 351 c.273G>C c.(271-273)aaG>aaC p.K91N SOX7_ENST00000554914.1_Missense_Mutation_p.K143N|SOX7_ENST00000553390.1_Missense_Mutation_p.K143N NM_031439.2 NP_113627.1 Q9BT81 SOX7_HUMAN SRY (sex determining region Y)-box 7 91 endoderm formation|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|positive regulation of caspase activity|regulation of canonical Wnt receptor signaling pathway cytoplasm|nucleus transcription regulatory region DNA binding p.K91N(1) breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 20 COAD - Colon adenocarcinoma(149;0.0732) CGTACGGCCTCTTCTGGGACA 0.647000 6 16 0 0 0.047766 0 0 C20orf85 128602 broad.mit.edu 37 20 56728657 56728657 + Silent SNP G G A TCGA-DK-A1AB-01A-11D-A13W-08 TCGA-DK-A1AB-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f0fb2ba-0351-4ce0-8b74-31aa3deecae1 6bb1a3eb-1659-4df1-935d-f8b2d710ace4 g.chr20:56728657G>A ENST00000371168.3 + 2 187 c.126G>A c.(124-126)ggG>ggA p.G42G NM_178456.2 NP_848551.1 Q9H1P6 CT085_HUMAN chromosome 20 open reading frame 85 42 p.G42G(1) kidney(1)|large_intestine(2)|lung(6)|ovary(1)|skin(2)|urinary_tract(1) 13 all_epithelial(3;5.99e-14)|Lung NSC(12;0.000152)|all_lung(29;0.000518)|Melanoma(10;0.118) BRCA - Breast invasive adenocarcinoma(13;5.53e-12)|Epithelial(14;7.42e-08)|all cancers(14;7.19e-07) AGAACTGGGGGTTTTTAACAA 0.428000 24 106 0 0 0.083992 0 0 FIBCD1 84929 broad.mit.edu 37 9 133780649 133780649 + Silent SNP G G C TCGA-DK-A1AB-01A-11D-A13W-08 TCGA-DK-A1AB-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f0fb2ba-0351-4ce0-8b74-31aa3deecae1 6bb1a3eb-1659-4df1-935d-f8b2d710ace4 g.chr9:133780649G>C ENST00000372338.4 - 6 1340 c.1098C>G c.(1096-1098)ctC>ctG p.L366L FIBCD1_ENST00000372337.2_Silent_p.L208L|FIBCD1_ENST00000253018.4_Intron|FIBCD1_ENST00000448616.1_Silent_p.L366L NM_032843.4 NP_116232.3 Q8N539 FBCD1_HUMAN fibrinogen C domain containing 1 366 Fibrinogen C-terminal. signal transduction extracellular space|integral to membrane chitin binding|metal ion binding|receptor binding p.L366L(1) kidney(1)|large_intestine(3)|lung(2)|prostate(5)|urinary_tract(1) 12 all_hematologic(7;0.0028) OV - Ovarian serous cystadenocarcinoma(145;3.52e-05)|Epithelial(140;0.00019) CAGCCACGGTGAGCGGGTACC 0.657000 7 24 0 0 0.038147 0 0 NLRP9 338321 broad.mit.edu 37 19 56243927 56243927 + Missense_Mutation SNP C C G TCGA-DK-A1AB-01A-11D-A13W-08 TCGA-DK-A1AB-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f0fb2ba-0351-4ce0-8b74-31aa3deecae1 6bb1a3eb-1659-4df1-935d-f8b2d710ace4 g.chr19:56243927C>G ENST00000332836.2 - 2 1297 c.1270G>C c.(1270-1272)Gag>Cag p.E424Q NM_176820.2 NP_789790.2 Q7RTR0 NALP9_HUMAN NLR family, pyrin domain containing 9 424 NACHT. cytoplasm ATP binding p.E424Q(1) NS(2)|breast(5)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(15)|lung(21)|ovary(2)|prostate(3)|skin(7)|urinary_tract(3) 74 Colorectal(82;0.000133)|Ovarian(87;0.133) GBM - Glioblastoma multiforme(193;0.123) ATCACGCCCTCAGACTCAGAT 0.483000 49 187 0 0 0.139131 0 0 LILRA3 11026 broad.mit.edu 37 19 54802062 54802062 + Missense_Mutation SNP G G A TCGA-DK-A1AB-01A-11D-A13W-08 TCGA-DK-A1AB-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f0fb2ba-0351-4ce0-8b74-31aa3deecae1 6bb1a3eb-1659-4df1-935d-f8b2d710ace4 g.chr19:54802062G>A ENST00000391745.1 - 10 1493 c.1177C>T c.(1177-1179)Cat>Tat p.H393Y LILRA3_ENST00000391744.3_Missense_Mutation_p.H312Y|LILRA3_ENST00000251390.3_Missense_Mutation_p.H376Y leukocyte immunoglobulin-like receptor, subfamily A (without TM domain), member 3 p.H376Y(1) NS(3)|breast(1)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 28 Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.105) TGGTACTTATGAGATTGGCGC 0.577000 33 103 0 0 0.059317 0 0 ARFIP1 27236 broad.mit.edu 37 4 153791962 153791962 + Missense_Mutation SNP G G A rs142219628 TCGA-DK-A1AB-01A-11D-A13W-08 TCGA-DK-A1AB-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f0fb2ba-0351-4ce0-8b74-31aa3deecae1 6bb1a3eb-1659-4df1-935d-f8b2d710ace4 g.chr4:153791962G>A ENST00000451320.2 + 4 424 c.260G>A c.(259-261)cGa>cAa p.R87Q ARFIP1_ENST00000429148.2_Intron|ARFIP1_ENST00000353617.2_Missense_Mutation_p.R87Q|ARFIP1_ENST00000405727.2_Intron|ARFIP1_ENST00000511289.1_3'UTR|ARFIP1_ENST00000356064.3_Intron P53367 ARFP1_HUMAN ADP-ribosylation factor interacting protein 1 87 intracellular protein transport|regulation of protein secretion cytosol|Golgi membrane p.R87Q(2) ARFIP1/FHDC1(2) cervix(1)|endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|urinary_tract(1) 14 all_hematologic(180;0.093) GCAGCTAGTCGACTGGCTCAG 0.443000 19 66 0 0 0.049695 0 0 APOB 338 broad.mit.edu 37 2 21233133 21233133 + Missense_Mutation SNP C C G TCGA-DK-A1AB-01A-11D-A13W-08 TCGA-DK-A1AB-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f0fb2ba-0351-4ce0-8b74-31aa3deecae1 6bb1a3eb-1659-4df1-935d-f8b2d710ace4 g.chr2:21233133C>G ENST00000233242.1 - 26 6734 c.6607G>C c.(6607-6609)Gat>Cat p.D2203H NM_000384.2 NP_000375 P04114 APOB_HUMAN apolipoprotein B 2203 cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity p.D2203H(1) NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6) 305 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) Atorvastatin(DB01076) ATGATTTCATCAATAATATTA 0.239000 24 56 0 0 0.076483 0 0 SETD2 29072 broad.mit.edu 37 3 47142947 47142947 + Splice_Site SNP C C T TCGA-DK-A1AB-01A-11D-A13W-08 TCGA-DK-A1AB-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f0fb2ba-0351-4ce0-8b74-31aa3deecae1 6bb1a3eb-1659-4df1-935d-f8b2d710ace4 g.chr3:47142947C>T ENST00000409792.3 - 8 5058 c.e8+1 NM_014159.6 NP_054878.5 Q9BYW2 SETD2_HUMAN SET domain containing 2 regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nucleus DNA binding|histone-lysine N-methyltransferase activity|oxidoreductase activity|transition metal ion binding p.?(2) breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5) 141 Acute lymphoblastic leukemia(5;0.0169) BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844) ACAATACTTACCCATATCTCT 0.358000 """N, F, S, Mis""" clear cell renal carcinoma 39 89 0 0 0.098360 0 0 C1orf168 199920 broad.mit.edu 37 1 57233561 57233561 + Missense_Mutation SNP G G A TCGA-DK-A1AB-01A-11D-A13W-08 TCGA-DK-A1AB-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f0fb2ba-0351-4ce0-8b74-31aa3deecae1 6bb1a3eb-1659-4df1-935d-f8b2d710ace4 g.chr1:57233561G>A ENST00000343433.6 - 5 1084 c.1004C>T c.(1003-1005)tCa>tTa p.S335L C1orf168_ENST00000484327.1_5'UTR NM_001004303.4 NP_001004303.3 Q5VWT5 CA168_HUMAN chromosome 1 open reading frame 168 335 p.S335L(1) NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|skin(6)|stomach(1)|urinary_tract(2) 46 TCTCAGATATGAAATTGTTGC 0.353000 24 109 0 0 0.108266 0 0 JAKMIP1 152789 broad.mit.edu 37 4 6087327 6087327 + Silent SNP C C G TCGA-DK-A1AB-01A-11D-A13W-08 TCGA-DK-A1AB-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f0fb2ba-0351-4ce0-8b74-31aa3deecae1 6bb1a3eb-1659-4df1-935d-f8b2d710ace4 g.chr4:6087327C>G ENST00000409021.3 - 4 1103 c.654G>C c.(652-654)gtG>gtC p.V218V JAKMIP1_ENST00000409371.3_Silent_p.V53V|JAKMIP1_ENST00000410077.2_Silent_p.V53V|JAKMIP1_ENST00000457227.2_5'UTR|JAKMIP1_ENST00000409831.1_Silent_p.V218V|JAKMIP1_ENST00000282924.5_Silent_p.V218V NM_001099433.1 NP_001092903.1 Q96N16 JKIP1_HUMAN janus kinase and microtubule interacting protein 1 218 Mediates association with microtubules. protein transport cytoplasm|membrane|microtubule|peripheral to membrane of membrane fraction|ribonucleoprotein complex GABA receptor binding|RNA binding p.V218V(2) NS(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 42 AGGCCAGAATCACACGGTCTT 0.522000 35 117 0 0 0.059317 0 0 TRAPPC6B 122553 broad.mit.edu 37 14 39627491 39627491 + Nonsense_Mutation SNP G G A TCGA-DK-A1AB-01A-11D-A13W-08 TCGA-DK-A1AB-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f0fb2ba-0351-4ce0-8b74-31aa3deecae1 6bb1a3eb-1659-4df1-935d-f8b2d710ace4 g.chr14:39627491G>A ENST00000330149.5 - 3 491 c.265C>T c.(265-267)Cag>Tag p.Q89* TRAPPC6B_ENST00000347691.5_Nonsense_Mutation_p.Q89*|TRAPPC6B_ENST00000557764.1_Intron NM_001079537.1 NP_001073005.1 Q86SZ2 TPC6B_HUMAN trafficking protein particle complex 6B 89 vesicle-mediated transport endoplasmic reticulum|Golgi apparatus guanylate cyclase activity|heme binding p.Q89*(1) large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 4 Hepatocellular(127;0.213) LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711) GBM - Glioblastoma multiforme(112;0.0128) TTAATTACCTGATGATTTGTC 0.274000 7 42 0 0 0.047766 0 0 UGGT2 55757 broad.mit.edu 37 13 96513055 96513055 + Missense_Mutation SNP C C T TCGA-DK-A1AB-01A-11D-A13W-08 TCGA-DK-A1AB-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f0fb2ba-0351-4ce0-8b74-31aa3deecae1 6bb1a3eb-1659-4df1-935d-f8b2d710ace4 g.chr13:96513055C>T ENST00000376747.3 - 32 3797 c.3727G>A c.(3727-3729)Gaa>Aaa p.E1243K NM_020121.3 NP_064506.3 Q9NYU1 UGGG2_HUMAN UDP-glucose glycoprotein glucosyltransferase 2 1243 Glucosyltransferase. post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine endoplasmic reticulum lumen|ER-Golgi intermediate compartment UDP-glucose:glycoprotein glucosyltransferase activity p.E1243K(1) NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(17)|lung(20)|ovary(3)|pancreas(1)|prostate(4)|urinary_tract(2) 60 AAAAAACGTTCATATAAATGA 0.254000 13 65 0 0 0.105934 0 0 TBC1D12 23232 broad.mit.edu 37 10 96162370 96162370 + Translation_Start_Site SNP G G A TCGA-DK-A1AB-01A-11D-A13W-08 TCGA-DK-A1AB-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f0fb2ba-0351-4ce0-8b74-31aa3deecae1 6bb1a3eb-1659-4df1-935d-f8b2d710ace4 g.chr10:96162370G>A ENST00000225235.4 + 0 110 NM_015188.1 NP_056003.1 O60347 TBC12_HUMAN TBC1 domain family, member 12 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) CCCACCCCCAGATGGTGGGTC 0.697000 4 22 0 0 0.009096 0 0 TBC1D5 9779 broad.mit.edu 37 3 17349598 17349598 + Missense_Mutation SNP C C T TCGA-DK-A1AB-01A-11D-A13W-08 TCGA-DK-A1AB-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f0fb2ba-0351-4ce0-8b74-31aa3deecae1 6bb1a3eb-1659-4df1-935d-f8b2d710ace4 g.chr3:17349598C>T ENST00000253692.7 - 14 2688 c.1024G>A c.(1024-1026)Gag>Aag p.E342K TBC1D5_ENST00000446818.2_Missense_Mutation_p.E342K|TBC1D5_ENST00000429924.2_Missense_Mutation_p.E294K|TBC1D5_ENST00000414318.2_5'UTR|TBC1D5_ENST00000429383.4_Missense_Mutation_p.E342K NM_014744.2 NP_055559.1 Q92609 TBCD5_HUMAN TBC1 domain family, member 5 342 Rab-GAP TBC. intracellular protein binding|Rab GTPase activator activity p.E342K(1) NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 36 AGGGGGAACTCTCGTCCAAAT 0.438000 11 14 0 0 0.119110 0 0 MTUS1 57509 broad.mit.edu 37 8 17612647 17612647 + Missense_Mutation SNP C C G TCGA-DK-A1AB-01A-11D-A13W-08 TCGA-DK-A1AB-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f0fb2ba-0351-4ce0-8b74-31aa3deecae1 6bb1a3eb-1659-4df1-935d-f8b2d710ace4 g.chr8:17612647C>G ENST00000381869.3 - 2 1143 c.670G>C c.(670-672)Gat>Cat p.D224H MTUS1_ENST00000519263.1_Missense_Mutation_p.D224H|MTUS1_ENST00000262102.6_Missense_Mutation_p.D224H|MTUS1_ENST00000381862.3_Missense_Mutation_p.D224H NM_001001925.2 NP_001001925.1 Q9ULD2 MTUS1_HUMAN microtubule associated tumor suppressor 1 224 Golgi apparatus|microtubule|microtubule organizing center|mitochondrion|nucleus|plasma membrane|spindle p.D224H(1) breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(14)|lung(8)|ovary(1)|skin(2)|urinary_tract(1) 36 Colorectal(111;0.0778) CTTTCTCTATCATAAGTAGTT 0.418000 25 150 0 0 0.083992 0 0 C14orf182 283551 broad.mit.edu 37 14 50472344 50472344 + Silent SNP G G C TCGA-DK-A1AB-01A-11D-A13W-08 TCGA-DK-A1AB-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f0fb2ba-0351-4ce0-8b74-31aa3deecae1 6bb1a3eb-1659-4df1-935d-f8b2d710ace4 g.chr14:50472344G>C ENST00000399206.1 - 1 1894 c.174C>G c.(172-174)ctC>ctG p.L58L C14orf182_ENST00000529902.1_5'UTR NM_001012706.1 NP_001012724.1 A1A4T8 CN182_HUMAN chromosome 14 open reading frame 182 58 p.L58L(1) large_intestine(2)|urinary_tract(1) 3 CCCCGCTACTGAGTGGCAAGA 0.522000 42 151 0 0 0.098360 0 0 HIST1H3I 8354 broad.mit.edu 37 6 27839872 27839872 + Silent SNP C C T TCGA-DK-A1AB-01A-11D-A13W-08 TCGA-DK-A1AB-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f0fb2ba-0351-4ce0-8b74-31aa3deecae1 6bb1a3eb-1659-4df1-935d-f8b2d710ace4 g.chr6:27839872C>T ENST00000328488.2 - 1 227 c.222G>A c.(220-222)gaG>gaA p.E74E NM_003533.2 NP_003524.1 P68431 H31_HUMAN histone cluster 1, H3i 74 blood coagulation|nucleosome assembly|regulation of gene silencing|S phase nucleoplasm|nucleosome DNA binding|protein binding p.E74E(1) endometrium(2)|kidney(1)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 11 CCTGTGCGATCTCCCGTACCA 0.622000 28 38 0 0 0.116897 0 0 DYNC1H1 1778 broad.mit.edu 37 14 102442048 102442048 + Splice_Site SNP G G C TCGA-DK-A1AB-01A-11D-A13W-08 TCGA-DK-A1AB-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f0fb2ba-0351-4ce0-8b74-31aa3deecae1 6bb1a3eb-1659-4df1-935d-f8b2d710ace4 g.chr14:102442048G>C ENST00000360184.4 + 2 420 c.e2-1 NM_001376.4 NP_001367.2 Q14204 DYHC1_HUMAN dynein, cytoplasmic 1, heavy chain 1 cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding p.?(1) NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2) 166 ATGATTTGTAGAGGACGTCGG 0.323000 3 76 0 0 0.009096 0 0 ASUN 55726 broad.mit.edu 37 12 27067369 27067369 + Nonsense_Mutation SNP G G T TCGA-DK-A1AB-01A-11D-A13W-08 TCGA-DK-A1AB-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f0fb2ba-0351-4ce0-8b74-31aa3deecae1 6bb1a3eb-1659-4df1-935d-f8b2d710ace4 g.chr12:27067369G>T ENST00000261191.7 - 12 1927 c.1391C>A c.(1390-1392)tCa>tAa p.S464* ASUN_ENST00000539625.1_Nonsense_Mutation_p.S363* NM_018164.2 NP_060634.2 Q9NVM9 M89BB_HUMAN asunder spermatogenesis regulator 464 cell division|mitosis|regulation of mitotic cell cycle protein binding p.S464*(1) GGTGGTTTGTGAAATGATCAT 0.343000 27 101 1.75199e-13 1.91238e-13 0.125774 1 0 PAIP1 10605 broad.mit.edu 37 5 43533846 43533846 + Missense_Mutation SNP C C T TCGA-DK-A1AB-01A-11D-A13W-08 TCGA-DK-A1AB-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f0fb2ba-0351-4ce0-8b74-31aa3deecae1 6bb1a3eb-1659-4df1-935d-f8b2d710ace4 g.chr5:43533846C>T ENST00000306846.3 - 9 1478 c.1246G>A c.(1246-1248)Gat>Aat p.D416N PAIP1_ENST00000436644.2_Missense_Mutation_p.D337N|PAIP1_ENST00000338972.4_Missense_Mutation_p.D304N|PAIP1_ENST00000514514.1_Missense_Mutation_p.D337N NM_006451.4|NM_182789.3 NP_006442.2|NP_877590.1 Q9H074 PAIP1_HUMAN poly(A) binding protein interacting protein 1 416 mRNA stabilization|nuclear-transcribed mRNA poly(A) tail shortening|translational initiation cytosol protein binding|RNA binding|translation activator activity p.D416N(1) endometrium(2)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 24 Lung NSC(6;2.07e-05) ATACCTGGATCAGCTGCAGTG 0.358000 30 130 0 0 0.134883 0 0 RGPD8 727851 broad.mit.edu 37 2 113127775 113127775 + Missense_Mutation SNP G G C TCGA-DK-A1AB-01A-11D-A13W-08 TCGA-DK-A1AB-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f0fb2ba-0351-4ce0-8b74-31aa3deecae1 6bb1a3eb-1659-4df1-935d-f8b2d710ace4 g.chr2:113127775G>C ENST00000302558.3 - 23 5469 c.5278C>G c.(5278-5280)Cct>Gct p.P1760A RGPD8_ENST00000409750.1_Missense_Mutation_p.P1620A NM_001164463.1 NP_001157935.1 RANBP2-like and GRIP domain containing 8 p.P1760A(12) endometrium(4)|kidney(1)|lung(1)|prostate(3)|urinary_tract(1) 10 GAACGGGAAGGATTTTCTTCC 0.308000 3 45 0 0 0.009096 0 0 ATP8B4 79895 broad.mit.edu 37 15 50152570 50152570 + Missense_Mutation SNP G G A TCGA-DK-A1AB-01A-11D-A13W-08 TCGA-DK-A1AB-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f0fb2ba-0351-4ce0-8b74-31aa3deecae1 6bb1a3eb-1659-4df1-935d-f8b2d710ace4 g.chr15:50152570G>A ENST00000284509.6 - 28 3541 c.3400C>T c.(3400-3402)Cac>Tac p.H1134Y ATP8B4_ENST00000559829.1_Missense_Mutation_p.H1134Y NM_024837.2 NP_079113.2 Q8TF62 AT8B4_HUMAN ATPase, class I, type 8B, member 4 1134 ATP biosynthetic process integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity p.H1134Y(1) breast(6)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|urinary_tract(1) 73 all_lung(180;0.00183) all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05) CCTTCTTGGTGAGCAAAAGCA 0.507000 50 115 0 0 0.139131 0 0 ZNF57 126295 broad.mit.edu 37 19 2918122 2918122 + Missense_Mutation SNP G G C TCGA-DK-A1AB-01A-11D-A13W-08 TCGA-DK-A1AB-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f0fb2ba-0351-4ce0-8b74-31aa3deecae1 6bb1a3eb-1659-4df1-935d-f8b2d710ace4 g.chr19:2918122G>C ENST00000306908.5 + 4 1651 c.1503G>C c.(1501-1503)gaG>gaC p.E501D ZNF57_ENST00000523428.1_Missense_Mutation_p.E469D|AC006277.2_ENST00000520090.2_RNA NM_173480.2 NP_775751.1 Q68EA5 ZNF57_HUMAN zinc finger protein 57 501 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.E501D(1) endometrium(1)|kidney(2)|large_intestine(5)|lung(2)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|GBM - Glioblastoma multiforme(1328;0.00161)|STAD - Stomach adenocarcinoma(1328;0.18) ACACTGGAGAGAAACCTCACA 0.463000 29 37 0 0 0.108266 0 0 EID2B 126272 broad.mit.edu 37 19 40023151 40023151 + Missense_Mutation SNP C C G TCGA-DK-A1AB-01A-11D-A13W-08 TCGA-DK-A1AB-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f0fb2ba-0351-4ce0-8b74-31aa3deecae1 6bb1a3eb-1659-4df1-935d-f8b2d710ace4 g.chr19:40023151C>G ENST00000326282.4 - 1 343 c.292G>C c.(292-294)Gag>Cag p.E98Q CTB-60E11.9_ENST00000594676.1_RNA|EID2B_ENST00000601837.1_Intron NM_152361.1 NP_689574.1 Q96D98 EID2B_HUMAN EP300 interacting inhibitor of differentiation 2B 98 cell differentiation|muscle organ development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus p.E98Q(1) endometrium(1)|lung(1)|urinary_tract(1) 3 all_cancers(60;4.04e-06)|all_lung(34;1.77e-07)|Lung NSC(34;2.09e-07)|all_epithelial(25;1.13e-05)|Ovarian(47;0.159) Epithelial(26;8.61e-26)|all cancers(26;2.76e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657) TCCAGATACTCGCGGAACAAC 0.612000 7 52 0 0 0.038147 0 0 ZNF730 100129543 broad.mit.edu 37 19 23329025 23329025 + Missense_Mutation SNP G G C TCGA-DK-A1AB-01A-11D-A13W-08 TCGA-DK-A1AB-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f0fb2ba-0351-4ce0-8b74-31aa3deecae1 6bb1a3eb-1659-4df1-935d-f8b2d710ace4 g.chr19:23329025G>C ENST00000597761.2 + 4 1378 c.1179G>C c.(1177-1179)gaG>gaC p.E393D NM_001277403.1 NP_001264332.1 zinc finger protein 730 p.E393D(1) endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(7)|pancreas(1)|stomach(2)|urinary_tract(1) 16 ATACTGTAGAGAAATTTTACA 0.348000 10 44 0 0 0.069234 0 0 LRR1 122769 broad.mit.edu 37 14 50074213 50074213 + Silent SNP G G A TCGA-DK-A1AB-01A-11D-A13W-08 TCGA-DK-A1AB-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f0fb2ba-0351-4ce0-8b74-31aa3deecae1 6bb1a3eb-1659-4df1-935d-f8b2d710ace4 g.chr14:50074213G>A ENST00000298288.6 + 3 702 c.378G>A c.(376-378)gtG>gtA p.V126V LRR1_ENST00000557531.1_3'UTR|LRR1_ENST00000318317.4_Intron NM_152329.3 NP_689542.2 Q96L50 LLR1_HUMAN leucine rich repeat protein 1 126 p.V126V(1) kidney(2)|large_intestine(1)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 11 TCACACCAGTGAAGACTTCAG 0.368000 31 95 0 0 0.125774 0 0 PCNXL2 80003 broad.mit.edu 37 1 233394101 233394101 + Missense_Mutation SNP C C T TCGA-DK-A1AB-01A-11D-A13W-08 TCGA-DK-A1AB-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f0fb2ba-0351-4ce0-8b74-31aa3deecae1 6bb1a3eb-1659-4df1-935d-f8b2d710ace4 g.chr1:233394101C>T ENST00000258229.9 - 5 1741 c.1507G>A c.(1507-1509)Gag>Aag p.E503K PCNXL2_ENST00000430153.1_5'UTR NM_014801.3 NP_055616.3 A6NKB5 PCX2_HUMAN pecanex-like 2 (Drosophila) integral to membrane p.E503K(1) NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 86 all_cancers(173;0.0347)|Prostate(94;0.137) ACCTTAGACTCGGAGCCTGTA 0.562000 18 57 0 0 0.043863 0 0 NOSTRIN 115677 broad.mit.edu 37 2 169717349 169717349 + Missense_Mutation SNP G G A TCGA-DK-A1AB-01A-11D-A13W-08 TCGA-DK-A1AB-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f0fb2ba-0351-4ce0-8b74-31aa3deecae1 6bb1a3eb-1659-4df1-935d-f8b2d710ace4 g.chr2:169717349G>A ENST00000444448.2 + 17 1871 c.1395G>A c.(1393-1395)atG>atA p.M465I NOSTRIN_ENST00000445023.2_Missense_Mutation_p.M330I|NOSTRIN_ENST00000397209.2_Missense_Mutation_p.M380I|NOSTRIN_ENST00000458381.2_Missense_Mutation_p.M465I|NOSTRIN_ENST00000421711.2_Missense_Mutation_p.M380I|NOSTRIN_ENST00000317647.7_Missense_Mutation_p.M408I|NOSTRIN_ENST00000397206.2_Missense_Mutation_p.M330I Q8IVI9 NOSTN_HUMAN nitric oxide synthase trafficking 408 SH3. endocytosis|nitric oxide metabolic process|regulation of nitric-oxide synthase activity cytoplasmic membrane-bounded vesicle|cytoskeleton|plasma membrane protein binding p.M465I(1)|p.M408I(1) kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(1)|urinary_tract(1) 9 CTTTTTTAATGAAGAGATTAG 0.378000 26 75 0 0 0.108266 0 0 RYR3 6263 broad.mit.edu 37 15 34047305 34047305 + Missense_Mutation SNP G G C TCGA-DK-A1AB-01A-11D-A13W-08 TCGA-DK-A1AB-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f0fb2ba-0351-4ce0-8b74-31aa3deecae1 6bb1a3eb-1659-4df1-935d-f8b2d710ace4 g.chr15:34047305G>C ENST00000389232.4 + 58 8509 c.8439G>C c.(8437-8439)gaG>gaC p.E2813D RYR3_ENST00000415757.3_Missense_Mutation_p.E2813D NM_001036.3 NP_001027.3 Q15413 RYR3_HUMAN ryanodine receptor 3 2813 4 X approximate repeats. cellular calcium ion homeostasis integral to membrane calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity p.E2813D(1) NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3) 311 all_lung(180;7.18e-09) all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363) CCTCCATGGAGAAGAGGTTTG 0.443000 4 20 0 0 0.014758 0 0 SGOL2 151246 broad.mit.edu 37 2 201437629 201437629 + Missense_Mutation SNP G G C TCGA-DK-A1AB-01A-11D-A13W-08 TCGA-DK-A1AB-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f0fb2ba-0351-4ce0-8b74-31aa3deecae1 6bb1a3eb-1659-4df1-935d-f8b2d710ace4 g.chr2:201437629G>C ENST00000357799.4 + 7 2658 c.2560G>C c.(2560-2562)Gaa>Caa p.E854Q NM_001160033.1|NM_001160046.1|NM_152524.5 NP_001153505.1|NP_001153518.1|NP_689737.4 Q562F6 SGOL2_HUMAN shugoshin-like 2 (S. pombe) 854 cell division|mitotic prometaphase condensed chromosome kinetochore|cytosol|mitotic cohesin complex protein binding p.E854Q(1) NS(2)|breast(2)|cervix(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2) 46 AACAATTTCTGAAAATCTACA 0.308000 48 144 0 0 0.139131 0 0 RNF20 56254 broad.mit.edu 37 9 104309797 104309797 + Silent SNP G G A TCGA-DK-A1AB-01A-11D-A13W-08 TCGA-DK-A1AB-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f0fb2ba-0351-4ce0-8b74-31aa3deecae1 6bb1a3eb-1659-4df1-935d-f8b2d710ace4 g.chr9:104309797G>A ENST00000389120.3 + 9 1179 c.1089G>A c.(1087-1089)ctG>ctA p.L363L NM_019592.5 NP_062538.5 Q5VTR2 BRE1A_HUMAN ring finger protein 20, E3 ubiquitin protein ligase 363 histone H2B ubiquitination|histone monoubiquitination|negative regulation of cell migration|positive regulation of transcription, DNA-dependent|protein polyubiquitination|ubiquitin-dependent protein catabolic process nucleolus|ubiquitin ligase complex histone binding|p53 binding|transcription coactivator activity|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding p.L363L(1) breast(3)|endometrium(3)|kidney(6)|large_intestine(7)|lung(23)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 54 all_hematologic(171;8.99e-06)|Acute lymphoblastic leukemia(62;0.000365)|Myeloproliferative disorder(762;0.0255) OV - Ovarian serous cystadenocarcinoma(323;2.88e-19)|STAD - Stomach adenocarcinoma(157;0.00311) ATGAAAAGCTGAAGGTAGGAA 0.453000 11 29 0 0 0.069234 0 0 HNF4A 3172 broad.mit.edu 37 20 43030114 43030114 + Silent SNP G G A TCGA-DK-A1AB-01A-11D-A13W-08 TCGA-DK-A1AB-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f0fb2ba-0351-4ce0-8b74-31aa3deecae1 6bb1a3eb-1659-4df1-935d-f8b2d710ace4 g.chr20:43030114G>A ENST00000316099.4 + 1 191 c.102G>A c.(100-102)ttG>ttA p.L34L HNF4A_ENST00000457232.1_Intron|HNF4A_ENST00000415691.2_Silent_p.L34L|HNF4A_ENST00000443598.2_Silent_p.L34L|HNF4A_ENST00000316673.4_Intron|HNF4A_ENST00000609795.1_Intron NM_000457.4|NM_001258355.1|NM_178849.2 NP_000448.3|NP_001245284.1|NP_849180.1 P41235 HNF4A_HUMAN hepatocyte nuclear factor 4, alpha blood coagulation|endocrine pancreas development|glucose homeostasis|negative regulation of cell growth|negative regulation of cell proliferation|ornithine metabolic process|phospholipid homeostasis|positive regulation of cholesterol homeostasis|regulation of growth hormone receptor signaling pathway|regulation of insulin secretion|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to glucose stimulus|triglyceride homeostasis|xenobiotic metabolic process cytoplasm activating transcription factor binding|protein homodimerization activity|receptor binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding p.L34L(2) endometrium(4)|large_intestine(7)|lung(17)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2) 34 Myeloproliferative disorder(115;0.0122) COAD - Colon adenocarcinoma(18;0.00189) TGCAGGTGTTGACGATGGGCA 0.587000 5 36 0 0 0.021553 0 0 EXO1 9156 broad.mit.edu 37 1 242048726 242048726 + Silent SNP G G A TCGA-DK-A1AB-01A-11D-A13W-08 TCGA-DK-A1AB-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f0fb2ba-0351-4ce0-8b74-31aa3deecae1 6bb1a3eb-1659-4df1-935d-f8b2d710ace4 g.chr1:242048726G>A ENST00000366548.3 + 15 2915 c.2322G>A c.(2320-2322)caG>caA p.Q774Q EXO1_ENST00000518483.1_Silent_p.Q774Q|EXO1_ENST00000348581.5_Silent_p.Q774Q NM_130398.3 NP_569082.2 Q9UQ84 EXO1_HUMAN exonuclease 1 774 Interaction with MSH2. meiosis|mismatch repair nucleus double-stranded DNA specific 5'-3' exodeoxyribonuclease activity|flap endonuclease activity|metal ion binding|protein binding|ribonuclease H activity|single-stranded DNA specific 5'-3' exodeoxyribonuclease activity p.Q774Q(1) NS(1)|central_nervous_system(2)|endometrium(3)|large_intestine(3)|lung(29)|ovary(2)|skin(1)|stomach(2)|urinary_tract(2) 45 Ovarian(103;0.103) all_cancers(173;0.0555) OV - Ovarian serous cystadenocarcinoma(106;0.0107) CAAGCATCCAGAAGAGAAAGC 0.453000 Editing and processing nucleases 19 53 0 0 0.049695 0 0 FSHR 2492 broad.mit.edu 37 2 49244635 49244635 + Nonsense_Mutation SNP G G A rs138079934 byFrequency TCGA-DK-A1AB-01A-11D-A13W-08 TCGA-DK-A1AB-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f0fb2ba-0351-4ce0-8b74-31aa3deecae1 6bb1a3eb-1659-4df1-935d-f8b2d710ace4 g.chr2:49244635G>A ENST00000406846.2 - 4 486 c.367C>T c.(367-369)Caa>Taa p.Q123* FSHR_ENST00000304421.4_Nonsense_Mutation_p.Q123*|FSHR_ENST00000346173.3_Nonsense_Mutation_p.Q123* NM_000145.3 NP_000136.2 P23945 FSHR_HUMAN follicle stimulating hormone receptor 123 female gamete generation|male gonad development|spermatogenesis integral to membrane|plasma membrane follicle-stimulating hormone receptor activity|protein binding p.Q123*(1) NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|liver(1)|lung(45)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 73 all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.181) Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151) Choriogonadotropin alfa(DB00097)|Follitropin beta(DB00066)|Menotropins(DB00032)|Urofollitropin(DB00094) TACAGATATTGAAGGTTGGGA 0.398000 Gonadal Dysgenesis, 46 XX 14 52 0 0 0.105934 0 0 MTBP 27085 broad.mit.edu 37 8 121530149 121530149 + Missense_Mutation SNP C C T TCGA-DK-A1AB-01A-11D-A13W-08 TCGA-DK-A1AB-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f0fb2ba-0351-4ce0-8b74-31aa3deecae1 6bb1a3eb-1659-4df1-935d-f8b2d710ace4 g.chr8:121530149C>T ENST00000305949.1 + 19 2350 c.2305C>T c.(2305-2307)Cac>Tac p.H769Y NM_022045.4 NP_071328.2 Q96DY7 MTBP_HUMAN Mdm2, transformed 3T3 cell double minute 2, p53 binding protein (mouse) binding protein, 104kDa 769 Interaction with MDM2 (By similarity). cell cycle arrest p.H769Y(1) NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 30 Lung NSC(37;5.68e-08)|Ovarian(258;0.00769)|all_neural(195;0.0804)|Hepatocellular(40;0.161) STAD - Stomach adenocarcinoma(47;0.00503) TAATAGTAATCACTATCATCA 0.393000 25 79 0 0 0.091800 0 0 C15orf57 90416 broad.mit.edu 37 15 40856969 40856969 + Missense_Mutation SNP G G A TCGA-DK-A1AB-01A-11D-A13W-08 TCGA-DK-A1AB-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f0fb2ba-0351-4ce0-8b74-31aa3deecae1 6bb1a3eb-1659-4df1-935d-f8b2d710ace4 g.chr15:40856969G>A ENST00000558750.1 - 1 210 c.11C>T c.(10-12)tCt>tTt p.S4F C15orf57_ENST00000560109.1_Intron|C15orf57_ENST00000558113.1_Intron|C15orf57_ENST00000558871.1_Intron|C15orf57_ENST00000416810.2_Intron|C15orf57_ENST00000358005.3_Intron|C15orf57_ENST00000561011.1_Intron|C15orf57_ENST00000559911.1_Intron|C15orf57_ENST00000560305.1_Intron Q9BV29 CO057_HUMAN chromosome 15 open reading frame 57 0 p.S4F(1) endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|prostate(1)|stomach(1) 9 GCTCACACCAGAGCCCCGCAT 0.592000 10 34 0 0 0.058154 0 0 LINC00521 256369 broad.mit.edu 37 14 94464544 94464544 + RNA SNP C C G TCGA-DK-A1AB-01A-11D-A13W-08 TCGA-DK-A1AB-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f0fb2ba-0351-4ce0-8b74-31aa3deecae1 6bb1a3eb-1659-4df1-935d-f8b2d710ace4 g.chr14:94464544C>G ENST00000444118.1 + 0 224 NR_024182.1 p.Q20E(1) AGGGGACCTTCAAGGGCTGTG 0.612000 17 20 0 0 0.146539 0 0 ADAM15 8751 broad.mit.edu 37 1 155033250 155033250 + Missense_Mutation SNP C C T TCGA-DK-A1AB-01A-11D-A13W-08 TCGA-DK-A1AB-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f0fb2ba-0351-4ce0-8b74-31aa3deecae1 6bb1a3eb-1659-4df1-935d-f8b2d710ace4 g.chr1:155033250C>T ENST00000356955.2 + 19 2320 c.2219C>T c.(2218-2220)tCt>tTt p.S740F ADAM15_ENST00000368410.2_Missense_Mutation_p.S446F|ADAM15_ENST00000531455.1_Missense_Mutation_p.S750F|ADAM15_ENST00000359280.4_Missense_Mutation_p.S740F|ADAM15_ENST00000472434.1_3'UTR|ADAM15_ENST00000355956.2_Missense_Mutation_p.S740F|ADAM15_ENST00000368412.3_Intron|ADAM15_ENST00000360674.4_Intron|ADAM15_ENST00000449910.2_Missense_Mutation_p.S740F|ADAM15_ENST00000271836.6_Missense_Mutation_p.S740F|ADAM15_ENST00000368413.1_Missense_Mutation_p.S446F NM_207197.2 NP_997080.1 Q13444 ADA15_HUMAN ADAM metallopeptidase domain 15 740 angiogenesis|cell-matrix adhesion|collagen catabolic process|proteolysis acrosomal vesicle|adherens junction|endomembrane system|flagellum|integral to membrane metalloendopeptidase activity|SH3 domain binding|zinc ion binding p.S740F(1) NS(1)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(5)|urinary_tract(1) 39 all_epithelial(22;1.43e-30)|all_lung(78;6.64e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877) BRCA - Breast invasive adenocarcinoma(34;0.000434) GCAGCCCAATCTGGTCCCTCT 0.602000 7 46 0 0 0.038147 0 0 TCF12 6938 broad.mit.edu 37 15 57565418 57565418 + Missense_Mutation SNP C C G TCGA-DK-A1AB-01A-11D-A13W-08 TCGA-DK-A1AB-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f0fb2ba-0351-4ce0-8b74-31aa3deecae1 6bb1a3eb-1659-4df1-935d-f8b2d710ace4 g.chr15:57565418C>G ENST00000267811.5 + 18 2168 c.1864C>G c.(1864-1866)Caa>Gaa p.Q622E TCF12_ENST00000438423.2_Missense_Mutation_p.Q646E|TCF12_ENST00000543579.1_Missense_Mutation_p.Q476E|TCF12_ENST00000343827.3_Missense_Mutation_p.Q452E|TCF12_ENST00000537840.1_Missense_Mutation_p.Q386E|TCF12_ENST00000452095.2_Missense_Mutation_p.Q642E|TCF12_ENST00000333725.5_Missense_Mutation_p.Q646E|TCF12_ENST00000557843.1_Missense_Mutation_p.Q622E|TCF12_ENST00000559703.1_Missense_Mutation_p.Q279E|TCF12_ENST00000559710.1_Missense_Mutation_p.Q256E NM_003205.3|NM_207038.1 NP_003196.1|NP_996921.1 Q99081 HTF4_HUMAN transcription factor 12 622 Helix-loop-helix motif. immune response|muscle organ development|regulation of transcription from RNA polymerase II promoter nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity p.Q646E(2)|p.Q642E(1)|p.Q452E(1) TCF12/NR4A3(2) breast(2)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1) 36 Colorectal(260;0.0907) all cancers(107;0.000313)|GBM - Glioblastoma multiforme(80;0.00878)|STAD - Stomach adenocarcinoma(283;0.239) TATTCTTCATCAAGCCGTGGC 0.448000 T TEC extraskeletal myxoid chondrosarcoma 11 40 0 0 0.080935 0 0 PPOX 5498 broad.mit.edu 37 1 161138959 161138959 + Missense_Mutation SNP G G C TCGA-DK-A1AB-01A-11D-A13W-08 TCGA-DK-A1AB-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f0fb2ba-0351-4ce0-8b74-31aa3deecae1 6bb1a3eb-1659-4df1-935d-f8b2d710ace4 g.chr1:161138959G>C ENST00000367999.4 + 7 1059 c.793G>C c.(793-795)Gaa>Caa p.E265Q PPOX_ENST00000535223.1_Intron|PPOX_ENST00000432542.2_Intron|PPOX_ENST00000352210.5_Missense_Mutation_p.E265Q|PPOX_ENST00000544598.1_Intron|PPOX_ENST00000495483.1_3'UTR NM_001122764.1 NP_001116236.1 P50336 PPOX_HUMAN protoporphyrinogen oxidase 265 heme biosynthetic process intrinsic to mitochondrial inner membrane|mitochondrial intermembrane space flavin adenine dinucleotide binding|oxygen-dependent protoporphyrinogen oxidase activity p.E265Q(1) breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|urinary_tract(3) 15 all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00275) CCTCCAGGCAGAAGGGCGCTG 0.567000 16 41 0 0 0.038395 0 0 CP 1356 broad.mit.edu 37 3 148897410 148897410 + Missense_Mutation SNP G G A TCGA-DK-A1AB-01A-11D-A13W-08 TCGA-DK-A1AB-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f0fb2ba-0351-4ce0-8b74-31aa3deecae1 6bb1a3eb-1659-4df1-935d-f8b2d710ace4 g.chr3:148897410G>A ENST00000264613.6 - 15 2856 c.2594C>T c.(2593-2595)tCt>tTt p.S865F NM_000096.3 NP_000087 P00450 CERU_HUMAN ceruloplasmin (ferroxidase) 865 F5/8 type A 3.|Plastocyanin-like 5. cellular iron ion homeostasis|copper ion transport|transmembrane transport extracellular space chaperone binding|ferroxidase activity p.S865F(1) breast(6)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 44 Prostate(884;0.00217)|Hepatocellular(537;0.00826)|Myeloproliferative disorder(1037;0.0122)|all_neural(597;0.0189)|Melanoma(1037;0.152) LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607) Drotrecogin alfa(DB00055) TCCAGCTCCAGATCTTTCTGG 0.363000 11 68 0 0 0.093190 0 0 TRMT1L 81627 broad.mit.edu 37 1 185112497 185112497 + Missense_Mutation SNP C C G TCGA-DK-A1AB-01A-11D-A13W-08 TCGA-DK-A1AB-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f0fb2ba-0351-4ce0-8b74-31aa3deecae1 6bb1a3eb-1659-4df1-935d-f8b2d710ace4 g.chr1:185112497C>G ENST00000367504.3 - 7 1122 c.383G>C c.(382-384)gGa>gCa p.G128A TRMT1L_ENST00000367506.5_Missense_Mutation_p.G284A Q7Z2T5 TRM1L_HUMAN tRNA methyltransferase 1 homolog (S. cerevisiae)-like 284 intracellular RNA binding|tRNA (guanine-N2-)-methyltransferase activity|zinc ion binding p.G284A(1) NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1) 21 ACCAGTGGCTCCAAAAGCATC 0.343000 29 122 0 0 0.050027 0 0 CEACAM1 634 broad.mit.edu 37 19 43026092 43026092 + Silent SNP G G A TCGA-DK-A1AB-01A-11D-A13W-08 TCGA-DK-A1AB-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f0fb2ba-0351-4ce0-8b74-31aa3deecae1 6bb1a3eb-1659-4df1-935d-f8b2d710ace4 g.chr19:43026092G>A ENST00000161559.6 - 3 821 c.687C>T c.(685-687)gtC>gtT p.V229V LIPE-AS1_ENST00000594624.2_RNA|CEACAM1_ENST00000403461.1_Silent_p.V229V|LIPE-AS1_ENST00000457234.2_RNA|CEACAM1_ENST00000308072.4_Silent_p.V189V|CEACAM1_ENST00000599389.1_Silent_p.V229V|CEACAM1_ENST00000351134.3_Intron|CEACAM1_ENST00000403444.3_Silent_p.V229V|CEACAM1_ENST00000358394.3_Silent_p.V229V|CEACAM1_ENST00000352591.5_Silent_p.V229V|LIPE-AS1_ENST00000594688.1_RNA NM_001712.4 NP_001703.2 P13688 CEAM1_HUMAN carcinoembryonic antigen-related cell adhesion molecule 1 (biliary glycoprotein) 229 Ig-like C2-type 1. angiogenesis|cell migration|homophilic cell adhesion|integrin-mediated signaling pathway extracellular region|integral to plasma membrane|membrane fraction p.V229V(1) breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1) 17 Prostate(69;0.00682) GBM - Glioblastoma multiforme(486;0.00148) Arcitumomab(DB00113) CATTCAAGGTGACTGGGTCAC 0.557000 40 131 0 0 0.092188 0 0 CBLC 23624 broad.mit.edu 37 19 45285644 45285644 + Silent SNP C C G TCGA-DK-A1AB-01A-11D-A13W-08 TCGA-DK-A1AB-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f0fb2ba-0351-4ce0-8b74-31aa3deecae1 6bb1a3eb-1659-4df1-935d-f8b2d710ace4 g.chr19:45285644C>G ENST00000270279.3 + 4 738 c.675C>G c.(673-675)ctC>ctG p.L225L CBLC_ENST00000341505.4_Silent_p.L225L NM_012116.3 NP_036248.3 Q9ULV8 CBLC_HUMAN Cbl proto-oncogene C, E3 ubiquitin protein ligase 225 Cbl-PTB.|SH2-like. cell surface receptor linked signaling pathway|negative regulation of epidermal growth factor receptor activity|negative regulation of MAP kinase activity|protein ubiquitination involved in ubiquitin-dependent protein catabolic process nucleus calcium ion binding|epidermal growth factor receptor binding|phosphotyrosine binding|SH3 domain binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding p.L225L(1) breast(1)|kidney(1)|lung(6)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 17 Lung NSC(12;0.00136)|all_lung(12;0.00371) Ovarian(192;0.231) CAACACTCCTCAAGAACTGGC 0.612000 M AML 25 122 0 0 0.144211 0 0 SMARCA5 8467 broad.mit.edu 37 4 144469207 144469207 + Missense_Mutation SNP G G C TCGA-DK-A1AB-01A-11D-A13W-08 TCGA-DK-A1AB-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f0fb2ba-0351-4ce0-8b74-31aa3deecae1 6bb1a3eb-1659-4df1-935d-f8b2d710ace4 g.chr4:144469207G>C ENST00000283131.3 + 22 3361 c.2899G>C c.(2899-2901)Gaa>Caa p.E967Q NM_003601.3 NP_003592.3 O60264 SMCA5_HUMAN SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 5 967 SANT 2. CenH3-containing nucleosome assembly at centromere|nucleosome positioning|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent condensed chromosome|nucleolus|nucleoplasm|NURF complex|RSF complex ATP binding|ATPase activity|DNA binding|helicase activity|nucleosome binding|protein binding p.E967Q(1) EWSR1/SMARCA5(2) endometrium(2)|kidney(2)|large_intestine(9)|lung(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 all_hematologic(180;0.158) ATTTGACAAAGAAAATGTTTA 0.373000 27 69 0 0 0.099896 0 0 KIAA2022 340533 broad.mit.edu 37 X 73964271 73964271 + Missense_Mutation SNP G G C TCGA-DK-A1AB-01A-11D-A13W-08 TCGA-DK-A1AB-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f0fb2ba-0351-4ce0-8b74-31aa3deecae1 6bb1a3eb-1659-4df1-935d-f8b2d710ace4 g.chrX:73964271G>C ENST00000055682.6 - 3 732 c.121C>G c.(121-123)Cta>Gta p.L41V NM_001008537.2 NP_001008537.1 Q5QGS0 K2022_HUMAN KIAA2022 base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|S phase of mitotic cell cycle delta DNA polymerase complex 3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity p.L41V(1) breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3) 109 GCAGCTTCTAGAGCTGCAAAT 0.463000 12 10 0 0 0.105934 0 0 EPHB1 2047 broad.mit.edu 37 3 134920360 134920360 + Silent SNP C C G TCGA-DK-A1AB-01A-11D-A13W-08 TCGA-DK-A1AB-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f0fb2ba-0351-4ce0-8b74-31aa3deecae1 6bb1a3eb-1659-4df1-935d-f8b2d710ace4 g.chr3:134920360C>G ENST00000398015.3 + 12 2545 c.2175C>G c.(2173-2175)ctC>ctG p.L725L EPHB1_ENST00000493838.1_Silent_p.L286L NM_004441.4 NP_004432.1 P54762 EPHB1_HUMAN EPH receptor B1 725 Protein kinase. integral to plasma membrane ATP binding|ephrin receptor activity|protein binding p.L725L(2) NS(1)|breast(3)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(63)|ovary(8)|pancreas(2)|prostate(8)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(2) 130 TGGGTATGCTCAGGGGCATCG 0.507000 54 139 0 0 0.139131 0 0 MUC16 94025 broad.mit.edu 37 19 9061174 9061174 + Missense_Mutation SNP G G C TCGA-DK-A1AB-01A-11D-A13W-08 TCGA-DK-A1AB-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f0fb2ba-0351-4ce0-8b74-31aa3deecae1 6bb1a3eb-1659-4df1-935d-f8b2d710ace4 g.chr19:9061174G>C ENST00000397910.4 - 3 26475 c.26272C>G c.(26272-26274)Caa>Gaa p.Q8758E NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 8760 Ser-rich.|Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding p.Q8758E(2)|p.Q4391E(1) NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 ATTGTGGATTGAGCAGGACCT 0.498000 22 47 0 0 0.062417 0 0 C3orf52 79669 broad.mit.edu 37 3 111821711 111821711 + Missense_Mutation SNP G G C rs139531193 by1000genomes TCGA-DK-A1AB-01A-11D-A13W-08 TCGA-DK-A1AB-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f0fb2ba-0351-4ce0-8b74-31aa3deecae1 6bb1a3eb-1659-4df1-935d-f8b2d710ace4 g.chr3:111821711G>C ENST00000264848.5 + 3 354 c.295G>C c.(295-297)Gaa>Caa p.E99Q C3orf52_ENST00000430855.1_Missense_Mutation_p.E99Q|C3orf52_ENST00000431717.2_Missense_Mutation_p.E99Q NM_024616.2 NP_078892 Q5BVD1 TTMP_HUMAN chromosome 3 open reading frame 52 99 endoplasmic reticulum membrane|integral to membrane p.E99Q(2) endometrium(1)|large_intestine(1)|lung(1)|urinary_tract(1) 4 AGATGAAAATGAAATACTTGA 0.343000 2 5 0 0 0.115264 0 0 PPP4R2 151987 broad.mit.edu 37 3 73114035 73114035 + Nonsense_Mutation SNP C C G TCGA-DK-A1AB-01A-11D-A13W-08 TCGA-DK-A1AB-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f0fb2ba-0351-4ce0-8b74-31aa3deecae1 6bb1a3eb-1659-4df1-935d-f8b2d710ace4 g.chr3:73114035C>G ENST00000356692.5 + 8 924 c.671C>G c.(670-672)tCa>tGa p.S224* PPP4R2_ENST00000295862.9_Nonsense_Mutation_p.S168*|PPP4R2_ENST00000394284.3_Nonsense_Mutation_p.S167* Q9NY27 PP4R2_HUMAN protein phosphatase 4, regulatory subunit 2 224 mRNA processing|protein modification process|regulation of double-strand break repair via homologous recombination|RNA splicing centrosome|nucleus|protein phosphatase 4 complex protein binding, bridging|protein phosphatase type 4 regulator activity p.S224*(1) breast(2)|endometrium(1)|large_intestine(1)|lung(3)|skin(2)|stomach(1)|urinary_tract(2) 12 Prostate(10;0.0187)|Lung SC(41;0.236) Epithelial(33;1.76e-07)|BRCA - Breast invasive adenocarcinoma(55;9.42e-05)|LUSC - Lung squamous cell carcinoma(21;0.00211)|Lung(16;0.00643)|KIRC - Kidney renal clear cell carcinoma(39;0.0164)|Kidney(39;0.0193)|OV - Ovarian serous cystadenocarcinoma(275;0.031) GAAGTTTCCTCAGTGAGCCCT 0.378000 25 58 0 0 0.083992 0 0 TSSK1B 83942 broad.mit.edu 37 5 112770004 112770004 + Missense_Mutation SNP G G A TCGA-DK-A1AB-01A-11D-A13W-08 TCGA-DK-A1AB-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f0fb2ba-0351-4ce0-8b74-31aa3deecae1 6bb1a3eb-1659-4df1-935d-f8b2d710ace4 g.chr5:112770004G>A ENST00000390666.3 - 1 724 c.533C>T c.(532-534)tCa>tTa p.S178L MCC_ENST00000408903.3_Intron|CTD-2201G3.1_ENST00000383058.4_RNA|CTD-2201G3.1_ENST00000416046.2_RNA NM_032028.3 NP_114417.1 Q9BXA7 TSSK1_HUMAN testis-specific serine kinase 1B 178 Protein kinase. cell differentiation|multicellular organismal development|spermatogenesis ATP binding|magnesium ion binding|protein serine/threonine kinase activity p.S178L(1) large_intestine(8)|ovary(2)|skin(2)|stomach(1) 13 all_cancers(142;0.0138)|all_epithelial(76;0.000445)|Colorectal(10;0.00814)|Prostate(80;0.0115)|Ovarian(225;0.156) Epithelial(69;4.15e-08)|OV - Ovarian serous cystadenocarcinoma(64;4.49e-08)|all cancers(49;3.2e-06)|COAD - Colon adenocarcinoma(37;0.0371)|Colorectal(14;0.0449) ATACGCTGGTGACCCACAGAA 0.567000 7 28 0 0 0.038147 0 0 TTN 7273 broad.mit.edu 37 2 179440567 179440567 + Missense_Mutation SNP C C G TCGA-DK-A1AB-01A-11D-A13W-08 TCGA-DK-A1AB-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f0fb2ba-0351-4ce0-8b74-31aa3deecae1 6bb1a3eb-1659-4df1-935d-f8b2d710ace4 g.chr2:179440567C>G ENST00000589042.1 - 326 70516 c.70292G>C c.(70291-70293)aGa>aCa p.R23431T TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.R21790T|TTN_ENST00000359218.5_Missense_Mutation_p.R14491T|TTN_ENST00000460472.2_Missense_Mutation_p.R14366T|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R14558T|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R20863T|TTN-AS1_ENST00000592630.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 21790 Fibronectin type-III 70. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity p.R14558T(1)|p.R14491T(1)|p.R14366T(1)|p.R20863T(1)|p.R20861T(1) NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) GTCCAAGACTCTGACGTTCAC 0.502000 48 131 0 0 0.139131 0 0 TROAP 10024 broad.mit.edu 37 12 49722719 49722719 + Missense_Mutation SNP G G A TCGA-DK-A1AB-01A-11D-A13W-08 TCGA-DK-A1AB-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f0fb2ba-0351-4ce0-8b74-31aa3deecae1 6bb1a3eb-1659-4df1-935d-f8b2d710ace4 g.chr12:49722719G>A ENST00000551245.1 + 9 1012 c.901G>A c.(901-903)Gac>Aac p.D301N TROAP_ENST00000547923.1_Missense_Mutation_p.D9N|TROAP_ENST00000257909.3_Missense_Mutation_p.D301N Q12815 TROAP_HUMAN trophinin associated protein 301 cell adhesion cytoplasm p.D301N(1) breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4) 32 GGACAGCCATGACTCCCACCT 0.572000 20 49 0 0 0.049695 0 0 DSP 1832 broad.mit.edu 37 6 7581491 7581491 + Missense_Mutation SNP G G A TCGA-DK-A1AB-01A-11D-A13W-08 TCGA-DK-A1AB-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f0fb2ba-0351-4ce0-8b74-31aa3deecae1 6bb1a3eb-1659-4df1-935d-f8b2d710ace4 g.chr6:7581491G>A ENST00000379802.3 + 23 5409 c.5068G>A c.(5068-5070)Gaa>Aaa p.E1690K DSP_ENST00000418664.2_Intron NM_004415.2 NP_004406.2 P15924 DESP_HUMAN desmoplakin 1690 Central fibrous rod domain. cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking cornified envelope|cytoplasm|desmosome protein binding, bridging|structural constituent of cytoskeleton p.E1690K(1) biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5) 101 Ovarian(93;0.0584) all_hematologic(90;0.236) OV - Ovarian serous cystadenocarcinoma(45;0.000508) GAAGGCGATAGAAGATAAAAG 0.458000 31 57 0 0 0.134883 0 0 ATP10D 57205 broad.mit.edu 37 4 47593107 47593107 + Silent SNP G G C TCGA-DK-A1AB-01A-11D-A13W-08 TCGA-DK-A1AB-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f0fb2ba-0351-4ce0-8b74-31aa3deecae1 6bb1a3eb-1659-4df1-935d-f8b2d710ace4 g.chr4:47593107G>C ENST00000273859.3 + 23 4259 c.3990G>C c.(3988-3990)ctG>ctC p.L1330L NM_020453.3 NP_065186.3 Q9P241 AT10D_HUMAN ATPase, class V, type 10D 1330 ATP biosynthetic process|cation transport integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity p.L1330L(1) NS(2)|endometrium(5)|kidney(5)|large_intestine(14)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1) 66 CTCCAATTCTGAGAGCTAAGC 0.413000 30 92 0 0 0.134883 0 0 CATSPER2 117155 broad.mit.edu 37 15 43932621 43932621 + Silent SNP C C T TCGA-DK-A1AB-01A-11D-A13W-08 TCGA-DK-A1AB-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f0fb2ba-0351-4ce0-8b74-31aa3deecae1 6bb1a3eb-1659-4df1-935d-f8b2d710ace4 g.chr15:43932621C>T ENST00000396879.1 - 6 574 c.462G>A c.(460-462)ttG>ttA p.L154L STRC_ENST00000541030.1_Intron|CATSPER2_ENST00000354127.4_Silent_p.L154L|CATSPER2_ENST00000321596.5_Silent_p.L154L|CATSPER2_ENST00000355438.2_Silent_p.L154L|CATSPER2_ENST00000381761.1_Silent_p.L160L NM_001282309.1 NP_001269238.1 Q96P56 CTSR2_HUMAN cation channel, sperm associated 2 154 cell differentiation|multicellular organismal development|spermatogenesis cilium|flagellar membrane|integral to membrane calcium channel activity|protein binding|voltage-gated ion channel activity p.L154L(1) breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2) 22 all_cancers(109;3.26e-15)|all_epithelial(112;1.48e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.027)|Colorectal(260;0.215) GBM - Glioblastoma multiforme(94;3.56e-07) TGAAAATAAGCAAGATAAACC 0.418000 43 97 0 0 0.092188 0 0 SLC9C1 285335 broad.mit.edu 37 3 111996650 111996650 + Missense_Mutation SNP G G C TCGA-DK-A1AB-01A-11D-A13W-08 TCGA-DK-A1AB-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f0fb2ba-0351-4ce0-8b74-31aa3deecae1 6bb1a3eb-1659-4df1-935d-f8b2d710ace4 g.chr3:111996650G>C ENST00000305815.5 - 5 628 c.376C>G c.(376-378)Ctg>Gtg p.L126V SLC9C1_ENST00000487372.1_Missense_Mutation_p.L126V NM_183061.1 NP_898884.1 Q4G0N8 S9A10_HUMAN solute carrier family 9, subfamily C (Na+-transporting carboxylic acid decarboxylase), member 1 126 cell differentiation|multicellular organismal development|sodium ion transport|spermatogenesis cilium|flagellar membrane|integral to membrane solute:hydrogen antiporter activity p.L126V(1) ACAGATGCCAGATGCCAAAGA 0.343000 29 95 0 0 0.125774 0 0 FCHSD1 89848 broad.mit.edu 37 5 141025388 141025388 + Missense_Mutation SNP C C G TCGA-DK-A1AB-01A-11D-A13W-08 TCGA-DK-A1AB-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f0fb2ba-0351-4ce0-8b74-31aa3deecae1 6bb1a3eb-1659-4df1-935d-f8b2d710ace4 g.chr5:141025388C>G ENST00000435817.2 - 13 1311 c.1261G>C c.(1261-1263)Gag>Cag p.E421Q FCHSD1_ENST00000522126.1_Missense_Mutation_p.E345Q|FCHSD1_ENST00000523856.1_5'UTR|FCHSD1_ENST00000522783.1_Splice_Site_p.E347Q NM_033449.2 NP_258260.1 Q86WN1 FCSD1_HUMAN FCH and double SH3 domains 1 421 p.E421Q(1) FCHSD1/BRAF(2) central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 24 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) AGCCGCCGCTCCTGCTCCACC 0.642000 4 9 0 0 0.047766 0 0 RTCA 8634 broad.mit.edu 37 1 100732130 100732130 + Silent SNP C C T TCGA-DK-A1AB-01A-11D-A13W-08 TCGA-DK-A1AB-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f0fb2ba-0351-4ce0-8b74-31aa3deecae1 6bb1a3eb-1659-4df1-935d-f8b2d710ace4 g.chr1:100732130C>T ENST00000370128.4 + 2 265 c.96C>T c.(94-96)ctC>ctT p.L32L RTCA_ENST00000498617.1_3'UTR|RTCA_ENST00000370126.1_Silent_p.L32L|RTCA_ENST00000260563.4_Silent_p.L32L NM_003729.3 NP_003720.1 O00442 RTC1_HUMAN RNA 3'-terminal phosphate cyclase 32 RNA processing mitochondrion|nucleoplasm ATP binding|protein binding|RNA binding|RNA-3'-phosphate cyclase activity p.L32L(1) TCCTAGGCCTCCCCTTGCGGG 0.637000 5 13 0 0 0.021553 0 0 WDR1 9948 broad.mit.edu 37 4 10083020 10083020 + Silent SNP G G A TCGA-DK-A1AB-01A-11D-A13W-08 TCGA-DK-A1AB-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f0fb2ba-0351-4ce0-8b74-31aa3deecae1 6bb1a3eb-1659-4df1-935d-f8b2d710ace4 g.chr4:10083020G>A ENST00000382452.2 - 11 1527 c.1245C>T c.(1243-1245)gtC>gtT p.V415V WDR1_ENST00000502702.1_Silent_p.V275V|WDR1_ENST00000515743.1_5'UTR|WDR1_ENST00000382451.2_Silent_p.V275V|WDR1_ENST00000499869.2_Silent_p.V415V NM_017491.3 NP_059830.1 O75083 WDR1_HUMAN WD repeat domain 1 415 platelet activation|platelet degranulation|sensory perception of sound cytoskeleton|cytosol|extracellular region actin binding p.V415V(1)|p.V416V(1) endometrium(3)|lung(5)|ovary(2)|pancreas(1)|urinary_tract(1) 12 STAD - Stomach adenocarcinoma(129;0.000703)|Colorectal(103;0.0057)|LUSC - Lung squamous cell carcinoma(721;0.0232) CCCCGGGGCCGACGGCTACGC 0.567000 14 31 0 0 0.132662 0 0 TPRA1 131601 broad.mit.edu 37 3 127295478 127295478 + Silent SNP C C T TCGA-DK-A1AB-01A-11D-A13W-08 TCGA-DK-A1AB-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f0fb2ba-0351-4ce0-8b74-31aa3deecae1 6bb1a3eb-1659-4df1-935d-f8b2d710ace4 g.chr3:127295478C>T ENST00000355552.3 - 6 856 c.480G>A c.(478-480)ctG>ctA p.L160L TPRA1_ENST00000450633.2_Silent_p.L160L|TPRA1_ENST00000296210.7_Silent_p.L160L|TPRA1_ENST00000489960.1_Silent_p.L160L NM_001136053.1 NP_001129525.1 Q86W33 TPRA1_HUMAN transmembrane protein, adipocyte asscociated 1 160 aging|lipid metabolic process integral to membrane G-protein coupled receptor activity p.L160L(1) endometrium(2)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(2) 9 CAGAGTAGGCCAGGGACAGCA 0.617000 3 14 0 0 0.115264 0 0 PLVAP 83483 broad.mit.edu 37 19 17487865 17487865 + Missense_Mutation SNP G G A TCGA-DK-A1AB-01A-11D-A13W-08 TCGA-DK-A1AB-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f0fb2ba-0351-4ce0-8b74-31aa3deecae1 6bb1a3eb-1659-4df1-935d-f8b2d710ace4 g.chr19:17487865G>A ENST00000252590.4 - 1 294 c.233C>T c.(232-234)aCg>aTg p.T78M NM_031310.1 NP_112600.1 Q9BX97 PLVAP_HUMAN plasmalemma vesicle associated protein 78 caveola|integral to membrane|perinuclear region of cytoplasm p.T78M(1) cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 CTGGGAGGCCGTGAGCCCTAG 0.617000 10 32 0 0 0.069234 0 0 URB2 9816 broad.mit.edu 37 1 229773886 229773886 + Nonsense_Mutation SNP C C T TCGA-DK-A1AB-01A-11D-A13W-08 TCGA-DK-A1AB-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f0fb2ba-0351-4ce0-8b74-31aa3deecae1 6bb1a3eb-1659-4df1-935d-f8b2d710ace4 g.chr1:229773886C>T ENST00000258243.2 + 4 3662 c.3526C>T c.(3526-3528)Cag>Tag p.Q1176* NM_014777.2 NP_055592.2 Q14146 URB2_HUMAN URB2 ribosome biogenesis 2 homolog (S. cerevisiae) 1176 nucleolus p.Q1176*(1) breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(6) 73 TCAGTCTTTTCAGGCAGCCTT 0.498000 37 76 0 0 0.069456 0 0 SDCBP 6386 broad.mit.edu 37 8 59494245 59494245 + Splice_Site SNP G G C TCGA-DK-A1AB-01A-11D-A13W-08 TCGA-DK-A1AB-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f0fb2ba-0351-4ce0-8b74-31aa3deecae1 6bb1a3eb-1659-4df1-935d-f8b2d710ace4 g.chr8:59494245G>C ENST00000523483.1 + 10 2417 c.903G>C c.(901-903)cgG>cgC p.R301R SDCBP_ENST00000424270.2_Splice_Site_p.R275R|SDCBP_ENST00000520168.1_Splice_Site_p.R222R|SDCBP_ENST00000447182.2_Splice_Site_p.R280R|SDCBP_ENST00000260130.4_Splice_Site_p.R281R|SDCBP_ENST00000413219.2_Splice_Site_p.R281R|SDCBP_ENST00000422546.2_Splice_Site_p.R280R|SDCBP_ENST00000447267.2_Splice_Site_p.R227R O00560 SDCB1_HUMAN syndecan binding protein (syntenin) 281 actin cytoskeleton organization|axon guidance|positive regulation of phosphorylation|protein targeting to membrane|substrate-dependent cell migration, cell extension|synaptic transmission cytoskeleton|cytosol|endoplasmic reticulum membrane|focal adhesion|interleukin-5 receptor complex|melanosome|nucleus cytoskeletal adaptor activity|frizzled binding|interleukin-5 receptor binding|protein heterodimerization activity|protein N-terminus binding|syndecan binding p.R281R(1) breast(1)|cervix(2)|kidney(1)|large_intestine(1)|lung(1)|skin(1)|urinary_tract(1) 8 all_lung(136;0.0271)|Lung NSC(129;0.0351)|all_epithelial(80;0.0554) TCTCTTGTAGGATGGCACCAA 0.383000 24 71 0 0 0.076483 0 0 OR5W2 390148 broad.mit.edu 37 11 55681643 55681643 + Missense_Mutation SNP C C G rs12786096 TCGA-DK-A1AB-01A-11D-A13W-08 TCGA-DK-A1AB-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f0fb2ba-0351-4ce0-8b74-31aa3deecae1 6bb1a3eb-1659-4df1-935d-f8b2d710ace4 g.chr11:55681643C>G ENST00000344514.1 - 1 415 c.416G>C c.(415-417)aGa>aCa p.R139T NM_001001960.1 NP_001001960.1 Q8NH69 OR5W2_HUMAN olfactory receptor, family 5, subfamily W, member 2 139 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.R139T(1) breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(28)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 49 ATAGCACACTCTGCTAGACAT 0.468000 20 46 0 0 0.043863 0 0 GCC2 9648 broad.mit.edu 37 2 109100719 109100719 + Missense_Mutation SNP G G A TCGA-DK-A1AB-01A-11D-A13W-08 TCGA-DK-A1AB-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f0fb2ba-0351-4ce0-8b74-31aa3deecae1 6bb1a3eb-1659-4df1-935d-f8b2d710ace4 g.chr2:109100719G>A ENST00000309863.6 + 13 4279 c.3565G>A c.(3565-3567)Gaa>Aaa p.E1189K NM_181453.3 NP_852118 Q8IWJ2 GCC2_HUMAN GRIP and coiled-coil domain containing 2 1189 Golgi ribbon formation|late endosome to Golgi transport|microtubule anchoring|microtubule organizing center organization|protein localization in Golgi apparatus|protein targeting to lysosome|recycling endosome to Golgi transport|regulation of protein exit from endoplasmic reticulum membrane|trans-Golgi network identical protein binding p.E1189K(1) breast(8)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 54 TTTGGAGCAAGAAATAAAAAT 0.254000 21 50 0 0 0.049695 0 0 ZNF736 728927 broad.mit.edu 37 7 63809022 63809022 + Missense_Mutation SNP G G C TCGA-DK-A1AB-01A-11D-A13W-08 TCGA-DK-A1AB-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f0fb2ba-0351-4ce0-8b74-31aa3deecae1 6bb1a3eb-1659-4df1-935d-f8b2d710ace4 g.chr7:63809022G>C ENST00000423484.2 + 4 903 c.781G>C c.(781-783)Gaa>Caa p.E261Q ZNF736_ENST00000355095.4_Missense_Mutation_p.E261Q B4DX44 ZN736_HUMAN zinc finger protein 736 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.E261Q(1) breast(1)|endometrium(6)|stomach(1)|urinary_tract(1) 9 CAAATGTGAAGAATGTGGCAA 0.388000 3 15 0 0 0.115264 0 0 COL12A1 1303 broad.mit.edu 37 6 75843060 75843060 + Missense_Mutation SNP G G T TCGA-DK-A1AB-01A-11D-A13W-08 TCGA-DK-A1AB-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f0fb2ba-0351-4ce0-8b74-31aa3deecae1 6bb1a3eb-1659-4df1-935d-f8b2d710ace4 g.chr6:75843060G>T ENST00000322507.8 - 34 6052 c.5743C>A c.(5743-5745)Ccc>Acc p.P1915T COL12A1_ENST00000416123.2_Missense_Mutation_p.P1915T|COL12A1_ENST00000345356.6_Missense_Mutation_p.P751T|COL12A1_ENST00000483888.2_Missense_Mutation_p.P1915T NM_004370.5 NP_004361.3 Q99715 COCA1_HUMAN collagen, type XII, alpha 1 1915 Fibronectin type-III 14. cell adhesion|collagen fibril organization|skeletal system development collagen type XII|extracellular space extracellular matrix structural constituent conferring tensile strength p.P1915T(1) breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2) 169 GTATAAACGGGAACTACAGTC 0.373000 27 59 5.61819e-17 6.17602e-17 0.108266 1 0 DMPK 1760 broad.mit.edu 37 19 46285508 46285508 + Missense_Mutation SNP C C G TCGA-DK-A1AB-01A-11D-A13W-08 TCGA-DK-A1AB-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f0fb2ba-0351-4ce0-8b74-31aa3deecae1 6bb1a3eb-1659-4df1-935d-f8b2d710ace4 g.chr19:46285508C>G ENST00000291270.4 - 1 228 c.103G>C c.(103-105)Gag>Cag p.E35Q DMPK_ENST00000447742.2_Missense_Mutation_p.E35Q|AC011530.4_ENST00000593999.1_Intron|DMPK_ENST00000354227.5_Missense_Mutation_p.E35Q|DMPK_ENST00000458663.2_Missense_Mutation_p.E35Q NM_004409.3 NP_004400.4 Q09013 DMPK_HUMAN dystrophia myotonica-protein kinase 0 regulation of heart contraction ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity p.E35Q(1) endometrium(5)|kidney(1)|large_intestine(1)|lung(6)|stomach(1)|urinary_tract(2) 16 Ovarian(192;0.0308)|all_neural(266;0.112) OV - Ovarian serous cystadenocarcinoma(262;0.00616)|GBM - Glioblastoma multiforme(486;0.0825)|Epithelial(262;0.24) GCGCCCAGCTCCTGGTGGACG 0.692000 5 6 0 0 0.029380 0 0 DPYS 1807 broad.mit.edu 37 8 105459566 105459566 + Missense_Mutation SNP C C T TCGA-DK-A1AB-01A-11D-A13W-08 TCGA-DK-A1AB-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f0fb2ba-0351-4ce0-8b74-31aa3deecae1 6bb1a3eb-1659-4df1-935d-f8b2d710ace4 g.chr8:105459566C>T ENST00000351513.2 - 3 721 c.589G>A c.(589-591)Gac>Aac p.D197N NM_001385.2 NP_001376.1 Q14117 DPYS_HUMAN dihydropyrimidinase 197 protein homotetramerization|pyrimidine nucleoside catabolic process|thymine catabolic process|uracil catabolic process cytosol dihydropyrimidinase activity|zinc ion binding p.D197N(1) NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 41 OV - Ovarian serous cystadenocarcinoma(57;1.61e-06)|STAD - Stomach adenocarcinoma(118;0.229) GCAATTAAGTCTCCATTTTCC 0.453000 12 34 0 0 0.093190 0 0 FAM96A 84191 broad.mit.edu 37 15 64385901 64385901 + Missense_Mutation SNP C C T TCGA-DK-A1AB-01A-11D-A13W-08 TCGA-DK-A1AB-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f0fb2ba-0351-4ce0-8b74-31aa3deecae1 6bb1a3eb-1659-4df1-935d-f8b2d710ace4 g.chr15:64385901C>T ENST00000557835.1 - 1 93 c.67G>A c.(67-69)Gag>Aag p.E23K FAM96A_ENST00000559950.1_Missense_Mutation_p.E23K|FAM96A_ENST00000380290.3_Missense_Mutation_p.E23K|FAM96A_ENST00000300030.3_Missense_Mutation_p.E23K Q9H5X1 FA96A_HUMAN family with sequence similarity 96, member A 23 chromosome segregation p.E23K(1) kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(1)|urinary_tract(1) 9 GCTCCCGGCTCAGAGAGGCCG 0.582000 8 27 0 0 0.058154 0 0 EML5 161436 broad.mit.edu 37 14 89168814 89168814 + Missense_Mutation SNP C C G TCGA-DK-A1AB-01A-11D-A13W-08 TCGA-DK-A1AB-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f0fb2ba-0351-4ce0-8b74-31aa3deecae1 6bb1a3eb-1659-4df1-935d-f8b2d710ace4 g.chr14:89168814C>G ENST00000554922.1 - 14 2462 c.2214G>C c.(2212-2214)ttG>ttC p.L738F EML5_ENST00000352093.5_Missense_Mutation_p.L738F|EML5_ENST00000380664.5_Missense_Mutation_p.L738F NM_183387.2 NP_899243.1 Q05BV3 EMAL5_HUMAN echinoderm microtubule associated protein like 5 738 cytoplasm|microtubule p.L738F(1) breast(1)|endometrium(3)|kidney(4)|large_intestine(17)|lung(14)|ovary(3)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 50 CGTAGTCTTTCAAAGGATGAA 0.388000 7 53 0 0 0.029380 0 0 SCYL3 57147 broad.mit.edu 37 1 169839492 169839492 + Missense_Mutation SNP C C G TCGA-DK-A1AB-01A-11D-A13W-08 TCGA-DK-A1AB-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f0fb2ba-0351-4ce0-8b74-31aa3deecae1 6bb1a3eb-1659-4df1-935d-f8b2d710ace4 g.chr1:169839492C>G ENST00000367771.6 - 6 743 c.529G>C c.(529-531)Gaa>Caa p.E177Q SCYL3_ENST00000367770.1_Missense_Mutation_p.E177Q|SCYL3_ENST00000367772.4_Missense_Mutation_p.E177Q|SCYL3_ENST00000470238.1_5'UTR NM_020423.6 NP_065156.5 Q8IZE3 PACE1_HUMAN SCY1-like 3 (S. cerevisiae) Protein kinase. cell migration Golgi apparatus|lamellipodium ATP binding|protein binding|protein kinase activity p.E177Q(2) breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(5)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 27 all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181) GTTGTGAATTCTGGAGACTAA 0.398000 24 69 0 0 0.091800 0 0 POLA2 23649 broad.mit.edu 37 11 65034149 65034149 + Missense_Mutation SNP C C T TCGA-DK-A1AB-01A-11D-A13W-08 TCGA-DK-A1AB-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f0fb2ba-0351-4ce0-8b74-31aa3deecae1 6bb1a3eb-1659-4df1-935d-f8b2d710ace4 g.chr11:65034149C>T ENST00000265465.3 + 2 707 c.176C>T c.(175-177)tCa>tTa p.S59L POLA2_ENST00000541089.1_Intron NM_002689.2 NP_002680.2 Q14181 DPOA2_HUMAN polymerase (DNA directed), alpha 2, accessory subunit 59 DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication nucleoplasm DNA binding p.S59L(2) endometrium(1)|large_intestine(2)|lung(7)|urinary_tract(1) 11 Dacarbazine(DB00851) GGCCTTACCTCAGAGATCCTG 0.433000 18 25 0 0 0.038395 0 0 SGSH 6448 broad.mit.edu 37 17 78188482 78188482 + Missense_Mutation SNP G G C TCGA-DK-A1AB-01A-11D-A13W-08 TCGA-DK-A1AB-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f0fb2ba-0351-4ce0-8b74-31aa3deecae1 6bb1a3eb-1659-4df1-935d-f8b2d710ace4 g.chr17:78188482G>C ENST00000570923.1 - 4 497 c.473C>G c.(472-474)tCc>tGc p.S158C SGSH_ENST00000572208.1_Intron|SGSH_ENST00000326317.6_Silent_p.L146L|SGSH_ENST00000534910.1_5'UTR P51688 SPHM_HUMAN N-sulfoglucosamine sulfohydrolase 0 proteoglycan metabolic process lysosome metal ion binding|N-sulfoglucosamine sulfohydrolase activity|sulfuric ester hydrolase activity p.L146L(1) central_nervous_system(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 10 all_neural(118;0.0952) OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.0908) GCCCCACCTGGAGGACGGAGC 0.612000 13 30 0 0 0.105934 0 0 PLCH1 23007 broad.mit.edu 37 3 155232664 155232664 + Missense_Mutation SNP T T A TCGA-DK-A1AB-01A-11D-A13W-08 TCGA-DK-A1AB-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f0fb2ba-0351-4ce0-8b74-31aa3deecae1 6bb1a3eb-1659-4df1-935d-f8b2d710ace4 g.chr3:155232664T>A ENST00000460012.1 - 12 1747 c.1390A>T c.(1390-1392)Acc>Tcc p.T464S PLCH1_ENST00000447496.2_Missense_Mutation_p.T482S|PLCH1_ENST00000334686.6_Missense_Mutation_p.T464S|PLCH1_ENST00000494598.1_Missense_Mutation_p.T482S|PLCH1_ENST00000340059.7_Missense_Mutation_p.T482S|PLCH1_ENST00000414191.1_Missense_Mutation_p.T464S Q4KWH8 PLCH1_HUMAN phospholipase C, eta 1 482 lipid catabolic process|phosphatidylinositol-mediated signaling membrane calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity p.T482S(1)|p.T464S(1) NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4) 107 Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114) TGCTCAGTGGTCCCATTACTC 0.348000 18 55 0 0 0.038395 0 0 PDLIM7 9260 broad.mit.edu 37 5 176910713 176910713 + Missense_Mutation SNP C C G TCGA-DK-A1AB-01A-11D-A13W-08 TCGA-DK-A1AB-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f0fb2ba-0351-4ce0-8b74-31aa3deecae1 6bb1a3eb-1659-4df1-935d-f8b2d710ace4 g.chr5:176910713C>G ENST00000355841.2 - 13 1372 c.1306G>C c.(1306-1308)Gaa>Caa p.E436Q PDLIM7_ENST00000359895.2_Missense_Mutation_p.E402Q|PDLIM7_ENST00000356618.4_3'UTR NM_005451.3 NP_005442.2 Q9NR12 PDLI7_HUMAN PDZ and LIM domain 7 (enigma) 436 LIM zinc-binding 3. cell differentiation|multicellular organismal development|ossification|receptor-mediated endocytosis cytoplasm|focal adhesion protein binding|zinc ion binding p.E436Q(1) breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|urinary_tract(1) 10 all_cancers(89;0.00033)|Renal(175;0.000269)|Lung NSC(126;0.00161)|all_lung(126;0.00286) all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) GTCTTTCCTTCCAGGTTGATC 0.587000 6 27 0 0 0.021553 0 0 NEBL 10529 broad.mit.edu 37 10 21117520 21117520 + Missense_Mutation SNP G G A TCGA-DK-A1AB-01A-11D-A13W-08 TCGA-DK-A1AB-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f0fb2ba-0351-4ce0-8b74-31aa3deecae1 6bb1a3eb-1659-4df1-935d-f8b2d710ace4 g.chr10:21117520G>A ENST00000377122.4 - 17 2111 c.1715C>T c.(1714-1716)tCt>tTt p.S572F NEBL_ENST00000417816.2_Intron|NEBL_ENST00000377159.4_Intron NM_006393.2 NP_006384.1 O76041 NEBL_HUMAN nebulette 572 regulation of actin filament length actin binding|structural constituent of muscle p.S572F(1) NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(2) 70 TGCTATGGTAGAATAGTTAGA 0.343000 12 51 0 0 0.080935 0 0 CCDC113 29070 broad.mit.edu 37 16 58292407 58292407 + Missense_Mutation SNP G G A rs151051990 TCGA-DK-A1AB-01A-11D-A13W-08 TCGA-DK-A1AB-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f0fb2ba-0351-4ce0-8b74-31aa3deecae1 6bb1a3eb-1659-4df1-935d-f8b2d710ace4 g.chr16:58292407G>A ENST00000219299.4 + 4 605 c.526G>A c.(526-528)Gag>Aag p.E176K CCDC113_ENST00000443128.2_Missense_Mutation_p.E122K NM_014157.3 NP_054876.2 Q9H0I3 CC113_HUMAN coiled-coil domain containing 113 176 protein complex p.E176K(1) large_intestine(4)|lung(6)|ovary(1)|urinary_tract(1) 12 GAAATACATTGAGGACATGAA 0.408000 13 61 0 0 0.105934 0 0 ARMC4 55130 broad.mit.edu 37 10 28273125 28273125 + Missense_Mutation SNP C C G TCGA-DK-A1AB-01A-11D-A13W-08 TCGA-DK-A1AB-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f0fb2ba-0351-4ce0-8b74-31aa3deecae1 6bb1a3eb-1659-4df1-935d-f8b2d710ace4 g.chr10:28273125C>G ENST00000305242.5 - 5 762 c.670G>C c.(670-672)Gaa>Caa p.E224Q ARMC4_ENST00000239715.3_Missense_Mutation_p.E81Q NM_018076.2 NP_060546.2 Q5T2S8 ARMC4_HUMAN armadillo repeat containing 4 224 binding p.E224Q(1) NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(17)|liver(1)|lung(17)|ovary(5)|prostate(3)|skin(8)|stomach(2)|urinary_tract(3) 75 GAGGTATATTCAATAGATTCC 0.328000 10 164 0 0 0.069234 0 0 SPTBN1 6711 broad.mit.edu 37 2 54874297 54874297 + Silent SNP G G A TCGA-DK-A1AB-01A-11D-A13W-08 TCGA-DK-A1AB-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f0fb2ba-0351-4ce0-8b74-31aa3deecae1 6bb1a3eb-1659-4df1-935d-f8b2d710ace4 g.chr2:54874297G>A ENST00000333896.5 + 23 5242 c.4857G>A c.(4855-4857)aaG>aaA p.K1619K SPTBN1_ENST00000356805.4_Silent_p.K1632K NM_178313.2 NP_842565.2 Q01082 SPTB2_HUMAN spectrin, beta, non-erythrocytic 1 1632 Interaction with ANK2. actin filament capping|axon guidance cytosol|nucleolus|plasma membrane|sarcomere|spectrin actin binding|calmodulin binding|protein binding|structural constituent of cytoskeleton p.K1632K(1)|p.K1619K(1) NS(1)|breast(8)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(27)|ovary(4)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 82 Lung(47;0.24) CCATGTTGAAGAAGCACCAGA 0.552000 25 89 0 0 0.091800 0 0 C1orf168 199920 broad.mit.edu 37 1 57233546 57233546 + Missense_Mutation SNP G G A TCGA-DK-A1AB-01A-11D-A13W-08 TCGA-DK-A1AB-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f0fb2ba-0351-4ce0-8b74-31aa3deecae1 6bb1a3eb-1659-4df1-935d-f8b2d710ace4 g.chr1:57233546G>A ENST00000343433.6 - 5 1099 c.1019C>T c.(1018-1020)tCt>tTt p.S340F C1orf168_ENST00000484327.1_5'UTR NM_001004303.4 NP_001004303.3 Q5VWT5 CA168_HUMAN chromosome 1 open reading frame 168 340 p.S340F(1) NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|skin(6)|stomach(1)|urinary_tract(2) 46 GGAGTTGCCAGAGTGTCTCAG 0.368000 23 107 0 0 0.091800 0 0 ZDHHC22 283576 broad.mit.edu 37 14 77605820 77605820 + Missense_Mutation SNP G G C TCGA-DK-A1AB-01A-11D-A13W-08 TCGA-DK-A1AB-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f0fb2ba-0351-4ce0-8b74-31aa3deecae1 6bb1a3eb-1659-4df1-935d-f8b2d710ace4 g.chr14:77605820G>C ENST00000319374.4 - 2 464 c.262C>G c.(262-264)Cca>Gca p.P88A RP11-463C8.4_ENST00000557752.1_Intron NM_174976.2 NP_777636.2 Q8N966 ZDH22_HUMAN zinc finger, DHHC-type containing 22 88 integral to membrane acyltransferase activity|zinc ion binding p.P88A(2) kidney(1)|lung(1)|urinary_tract(1) 3 Kidney(204;0.164) BRCA - Breast invasive adenocarcinoma(234;0.0277) GAGGGGCATGGAGTCTTCCTG 0.627000 5 9 0 0 0.014758 0 0 GNRHR 2798 broad.mit.edu 37 4 68619664 68619664 + Silent SNP G G A TCGA-DK-A1AB-01A-11D-A13W-08 TCGA-DK-A1AB-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f0fb2ba-0351-4ce0-8b74-31aa3deecae1 6bb1a3eb-1659-4df1-935d-f8b2d710ace4 g.chr4:68619664G>A ENST00000226413.4 - 1 414 c.390C>T c.(388-390)ttC>ttT p.F130F UBA6-AS1_ENST00000500538.2_RNA|UBA6-AS1_ENST00000502758.1_RNA|GNRHR_ENST00000420975.2_Silent_p.F130F NM_000406.2 NP_000397.1 P30968 GNRHR_HUMAN gonadotropin-releasing hormone receptor 130 multicellular organismal development integral to plasma membrane gonadotropin-releasing hormone receptor activity p.F130F(1) endometrium(2)|large_intestine(4)|liver(1)|lung(4)|ovary(1)|urinary_tract(1) 13 Abarelix(DB00106)|Cetrorelix(DB00050)|Danazol(DB01406)|Gonadorelin(DB00644)|Leuprolide(DB00007)|Nafarelin(DB00666) CCACCATCATGAAGGCTGGGG 0.507000 12 42 0 0 0.105934 0 0 PIK3CA 5290 broad.mit.edu 37 3 178952074 178952074 + Missense_Mutation SNP G G T rs121913283 TCGA-DK-A1AB-01A-11D-A13W-08 TCGA-DK-A1AB-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f0fb2ba-0351-4ce0-8b74-31aa3deecae1 6bb1a3eb-1659-4df1-935d-f8b2d710ace4 g.chr3:178952074G>T ENST00000263967.3 + 21 3286 c.3129G>T c.(3127-3129)atG>atT p.M1043I NM_006218.2 NP_006209.2 P42336 PK3CA_HUMAN phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha 1043 PI3K/PI4K. M -> I (in cancer; shows an increase in lipid kinase activity). epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity p.M1043I(66) NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208) 5269 all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155) OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282) TGAAACAAATGAATGATGCAC 0.368000 57 Mis """colorectal, gastric, gliobastoma, breast""" HNSCC(19;0.045)|TSP Lung(28;0.18) 28 55 2.4375e-19 2.70833e-19 0.125774 1 0 COX6C 1345 broad.mit.edu 37 8 100904266 100904266 + Translation_Start_Site SNP G G C TCGA-DK-A1AB-01A-11D-A13W-08 TCGA-DK-A1AB-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f0fb2ba-0351-4ce0-8b74-31aa3deecae1 6bb1a3eb-1659-4df1-935d-f8b2d710ace4 g.chr8:100904266G>C ENST00000520468.2 - 0 438 COX6C_ENST00000523016.1_De_novo_Start_OutOfFrame|COX6C_ENST00000520271.1_De_novo_Start_OutOfFrame|COX6C_ENST00000518171.1_De_novo_Start_OutOfFrame|COX6C_ENST00000517682.2_De_novo_Start_OutOfFrame|COX6C_ENST00000297564.2_De_novo_Start_OutOfFrame|COX6C_ENST00000524245.1_De_novo_Start_OutOfFrame|COX6C_ENST00000522940.1_De_novo_Start_OutOfFrame NM_004374.3 NP_004365.1 P09669 COX6C_HUMAN cytochrome c oxidase subunit VIc respiratory electron transport chain integral to membrane|mitochondrial inner membrane cytochrome-c oxidase activity HMGA2/COX6C(2) liver(1)|lung(2) 3 all cancers(13;8.32e-07)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169) TACTGTCCTTGATACGTAtgc 0.448000 T HMGA2 uterine leiomyoma 28 73 0 0 0.134883 0 0 ZFHX3 463 broad.mit.edu 37 16 72992824 72992824 + Silent SNP G G A TCGA-DK-A1AB-01A-11D-A13W-08 TCGA-DK-A1AB-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f0fb2ba-0351-4ce0-8b74-31aa3deecae1 6bb1a3eb-1659-4df1-935d-f8b2d710ace4 g.chr16:72992824G>A ENST00000268489.5 - 2 1893 c.1221C>T c.(1219-1221)acC>acT p.T407T ZFHX3_ENST00000397992.5_Intron NM_006885.3 NP_008816.3 Q15911 ZFHX3_HUMAN zinc finger homeobox 3 407 muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation transcription factor complex enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding p.T407T(1) NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11) 153 Ovarian(137;0.13) GTACCGAGCTGGTGAGCCCGC 0.657000 40 106 0 0 0.104719 0 0 NR2F1 7025 broad.mit.edu 37 5 92929285 92929285 + Missense_Mutation SNP G G A TCGA-DK-A1AB-01A-11D-A13W-08 TCGA-DK-A1AB-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f0fb2ba-0351-4ce0-8b74-31aa3deecae1 6bb1a3eb-1659-4df1-935d-f8b2d710ace4 g.chr5:92929285G>A ENST00000327111.3 + 3 2696 c.1009G>A c.(1009-1011)Gat>Aat p.D337N NR2F1_ENST00000506162.1_3'UTR NM_005654.4 NP_005645.1 P10589 COT1_HUMAN nuclear receptor subfamily 2, group F, member 1 337 negative regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm ligand-regulated transcription factor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription coactivator activity|zinc ion binding p.D337N(1) NS(1)|breast(1)|endometrium(4)|large_intestine(6)|lung(2)|ovary(3)|prostate(1)|skin(1)|urinary_tract(2) 21 all_cancers(142;1.62e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0126)|Lung NSC(167;0.0155)|Ovarian(174;0.0218)|Prostate(281;0.173)|Colorectal(57;0.19) UCEC - Uterine corpus endometrioid carcinoma (5;0.0416)|all cancers(79;9.57e-18) TGGCCTGTCGGATGCGGCCCA 0.587000 28 90 0 0 0.134883 0 0 OR10X1 128367 broad.mit.edu 37 1 158549553 158549553 + Missense_Mutation SNP A A G TCGA-DK-A1AB-01A-11D-A13W-08 TCGA-DK-A1AB-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f0fb2ba-0351-4ce0-8b74-31aa3deecae1 6bb1a3eb-1659-4df1-935d-f8b2d710ace4 g.chr1:158549553A>G ENST00000368150.1 - 1 136 c.137T>C c.(136-138)gTc>gCc p.V46A NM_001004477.1 NP_001004477.1 Q8NGY0 O10X1_HUMAN olfactory receptor, family 10, subfamily X, member 1 (gene/pseudogene) 46 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.V46A(1) breast(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(22)|ovary(2)|skin(2)|urinary_tract(1) 37 all_hematologic(112;0.0378) ACAAAAGAAGACCACAAAAAG 0.433000 37 108 0 0 0.111260 0 0 CATSPERB 79820 broad.mit.edu 37 14 92088132 92088132 + Missense_Mutation SNP G G C rs143009010 TCGA-DK-A1AB-01A-11D-A13W-08 TCGA-DK-A1AB-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f0fb2ba-0351-4ce0-8b74-31aa3deecae1 6bb1a3eb-1659-4df1-935d-f8b2d710ace4 g.chr14:92088132G>C ENST00000256343.3 - 19 2236 c.2080C>G c.(2080-2082)Cta>Gta p.L694V NM_024764.2 NP_079040.2 Q9H7T0 CTSRB_HUMAN catsper channel auxiliary subunit beta 694 cell differentiation|multicellular organismal development|spermatogenesis integral to membrane p.L694V(1) NS(1)|breast(4)|central_nervous_system(1)|kidney(3)|large_intestine(15)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(2) 54 all_cancers(154;0.0663)|all_epithelial(191;0.236) GTGCTCTTTAGAAAGGTCATA 0.383000 51 137 0 0 0.139131 0 0 SSX2IP 117178 broad.mit.edu 37 1 85127956 85127956 + Missense_Mutation SNP C C G TCGA-DK-A1AB-01A-11D-A13W-08 TCGA-DK-A1AB-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f0fb2ba-0351-4ce0-8b74-31aa3deecae1 6bb1a3eb-1659-4df1-935d-f8b2d710ace4 g.chr1:85127956C>G ENST00000437941.2 - 7 1123 c.771G>C c.(769-771)atG>atC p.M257I SSX2IP_ENST00000603677.1_Intron|SSX2IP_ENST00000342203.3_Missense_Mutation_p.M284I|SSX2IP_ENST00000605755.1_Missense_Mutation_p.M257I|SSX2IP_ENST00000370612.4_Missense_Mutation_p.M284I NM_001166295.1|NM_001166417.1 NP_001159767.1|NP_001159889.1 Q9Y2D8 ADIP_HUMAN synovial sarcoma, X breakpoint 2 interacting protein 284 cell adhesion nucleus|protein complex p.M284I(1) endometrium(5)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)|urinary_tract(1) 19 all cancers(265;0.0053)|Epithelial(280;0.0214)|OV - Ovarian serous cystadenocarcinoma(397;0.173) TTTCCTTTTTCATTTGTTGAA 0.323000 7 231 0 0 0.029380 0 0 ATG2B 55102 broad.mit.edu 37 14 96752292 96752292 + Missense_Mutation SNP C C T TCGA-DK-A1AB-01A-11D-A13W-08 TCGA-DK-A1AB-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f0fb2ba-0351-4ce0-8b74-31aa3deecae1 6bb1a3eb-1659-4df1-935d-f8b2d710ace4 g.chr14:96752292C>T ENST00000359933.4 - 42 6930 c.6037G>A c.(6037-6039)Gaa>Aaa p.E2013K NM_018036.5 NP_060506 Q96BY7 ATG2B_HUMAN autophagy related 2B 2013 p.E2013K(1) breast(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(11)|liver(1)|lung(26)|ovary(1)|prostate(1)|skin(1)|urinary_tract(7) 64 all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155) Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244) GCCGCAGTTTCATAAATGGTC 0.557000 6 16 0 0 0.069234 0 0 YY1AP1 55249 broad.mit.edu 37 1 155629592 155629592 + Silent SNP C C T TCGA-DK-A1AB-01A-11D-A13W-08 TCGA-DK-A1AB-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f0fb2ba-0351-4ce0-8b74-31aa3deecae1 6bb1a3eb-1659-4df1-935d-f8b2d710ace4 g.chr1:155629592C>T ENST00000368340.5 - 10 2571 c.2463G>A c.(2461-2463)gtG>gtA p.V821V YY1AP1_ENST00000535662.1_Silent_p.V549V|YY1AP1_ENST00000407221.1_Silent_p.V672V|YY1AP1_ENST00000295566.4_Silent_p.V749V|MSTO1_ENST00000452804.2_Intron|YY1AP1_ENST00000368330.2_Silent_p.V703V|MSTO1_ENST00000538143.1_Intron|YY1AP1_ENST00000347088.5_Silent_p.V703V|YY1AP1_ENST00000355499.4_Silent_p.V703V|YY1AP1_ENST00000404643.1_Silent_p.V683V|YY1AP1_ENST00000311573.5_Silent_p.V672V|YY1AP1_ENST00000368339.5_Silent_p.V841V|YY1AP1_ENST00000361831.5_Silent_p.V692V|YY1AP1_ENST00000359205.5_Silent_p.V692V NM_001198904.1 NP_001185833.1 YY1 associated protein 1 p.V841V(1)|p.V749V(1) central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(7)|ovary(2)|skin(2)|urinary_tract(2) 31 Hepatocellular(266;0.0997)|all_hematologic(923;0.145) CCTCTGTTTTCACAACGGTCC 0.527000 30 106 0 0 0.144211 0 0 CTF1 1489 broad.mit.edu 37 16 30910757 30910757 + Nonsense_Mutation SNP C C G TCGA-DK-A1AB-01A-11D-A13W-08 TCGA-DK-A1AB-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f0fb2ba-0351-4ce0-8b74-31aa3deecae1 6bb1a3eb-1659-4df1-935d-f8b2d710ace4 g.chr16:30910757C>G ENST00000279804.2 + 2 84 c.47C>G c.(46-48)tCa>tGa p.S16* CTF1_ENST00000395019.3_Nonsense_Mutation_p.S15* NM_001142544.1|NM_001330.3 NP_001136016.1|NP_001321.1 Q16619 CTF1_HUMAN cardiotrophin 1 16 cell proliferation|cell-cell signaling|muscle organ development|positive regulation of cell proliferation extracellular space cytokine activity|leukemia inhibitory factor receptor binding p.S16*(1) large_intestine(1)|urinary_tract(1) 2 Colorectal(24;0.198) ACTGATTCCTCAGTCTCACTT 0.562000 21 52 0 0 0.069288 0 0 SCN4A 6329 broad.mit.edu 37 17 62020202 62020202 + Silent SNP G G A TCGA-DK-A1AB-01A-11D-A13W-08 TCGA-DK-A1AB-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f0fb2ba-0351-4ce0-8b74-31aa3deecae1 6bb1a3eb-1659-4df1-935d-f8b2d710ace4 g.chr17:62020202G>A ENST00000435607.1 - 23 4348 c.4272C>T c.(4270-4272)gtC>gtT p.V1424V SCN4A_ENST00000578147.1_Silent_p.V1424V NM_000334.4 NP_000325.4 P35499 SCN4A_HUMAN sodium channel, voltage-gated, type IV, alpha subunit 1424 muscle contraction voltage-gated sodium channel complex voltage-gated sodium channel activity p.V1424V(1) breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 101 Lamotrigine(DB00555) TGGACAGGATGACGACCACGA 0.602000 6 22 0 0 0.021553 0 0 C16orf62 57020 broad.mit.edu 37 16 19621680 19621680 + Missense_Mutation SNP G G A TCGA-DK-A1AB-01A-11D-A13W-08 TCGA-DK-A1AB-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f0fb2ba-0351-4ce0-8b74-31aa3deecae1 6bb1a3eb-1659-4df1-935d-f8b2d710ace4 g.chr16:19621680G>A ENST00000438132.3 + 12 1281 c.1233G>A c.(1231-1233)atG>atA p.M411I C16orf62_ENST00000542263.1_Missense_Mutation_p.M411I|C16orf62_ENST00000448695.1_Missense_Mutation_p.M172I|C16orf62_ENST00000543152.1_Missense_Mutation_p.M71I|C16orf62_ENST00000417362.2_Missense_Mutation_p.M322I|C16orf62_ENST00000251143.5_Missense_Mutation_p.M322I NM_020314.5 NP_064710.4 Q7Z3J2 CP062_HUMAN chromosome 16 open reading frame 62 322 integral to membrane p.M322I(1)|p.M411I(1) breast(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2) 36 TGACATGCATGATCAGAGGGA 0.547000 5 17 0 0 0.021553 0 0 ZNF485 220992 broad.mit.edu 37 10 44112076 44112076 + Silent SNP G G A TCGA-DK-A1AB-01A-11D-A13W-08 TCGA-DK-A1AB-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f0fb2ba-0351-4ce0-8b74-31aa3deecae1 6bb1a3eb-1659-4df1-935d-f8b2d710ace4 g.chr10:44112076G>A ENST00000361807.3 + 5 779 c.585G>A c.(583-585)ctG>ctA p.L195L ZNF485_ENST00000374437.2_Silent_p.L104L|ZNF485_ENST00000374435.3_Silent_p.L195L NM_145312.3 NP_660355.2 Q8NCK3 ZN485_HUMAN zinc finger protein 485 195 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.L195L(1)|p.L156L(1) breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|skin(1)|urinary_tract(1) 16 GGAAGTTCCTGAAGAAGCACT 0.393000 31 90 0 0 0.144211 0 0 DNPEP 23549 broad.mit.edu 37 2 220246839 220246839 + Missense_Mutation SNP C C T TCGA-DK-A1AB-01A-11D-A13W-08 TCGA-DK-A1AB-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f0fb2ba-0351-4ce0-8b74-31aa3deecae1 6bb1a3eb-1659-4df1-935d-f8b2d710ace4 g.chr2:220246839C>T ENST00000273075.4 - 11 1179 c.959G>A c.(958-960)gGa>gAa p.G320E DNPEP_ENST00000373972.1_Missense_Mutation_p.G245E|DNPEP_ENST00000523282.1_Missense_Mutation_p.G328E NM_012100.2 NP_036232 Q9ULA0 DNPEP_HUMAN aspartyl aminopeptidase 310 peptide metabolic process|proteolysis cytoplasm aminopeptidase activity|metallopeptidase activity|protein binding|zinc ion binding p.G320E(1) breast(3)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 17 Renal(207;0.0474) Epithelial(149;1.09e-06)|all cancers(144;0.000179)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) L-Glutamic Acid(DB00142) TGACTGTGCTCCCTGTGCACT 0.602000 6 20 0 0 0.021553 0 0 TBC1D15 64786 broad.mit.edu 37 12 72291701 72291701 + Missense_Mutation SNP G G A TCGA-DK-A1AB-01A-11D-A13W-08 TCGA-DK-A1AB-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f0fb2ba-0351-4ce0-8b74-31aa3deecae1 6bb1a3eb-1659-4df1-935d-f8b2d710ace4 g.chr12:72291701G>A ENST00000550746.1 + 11 1278 c.1214G>A c.(1213-1215)aGa>aAa p.R405K TBC1D15_ENST00000319106.8_Missense_Mutation_p.R396K|TBC1D15_ENST00000393309.3_Missense_Mutation_p.R159K|TBC1D15_ENST00000548679.1_3'UTR|TBC1D15_ENST00000485960.2_Missense_Mutation_p.R388K NM_001146213.1|NM_022771.4 NP_001139685.2|NP_073608.4 Q8TC07 TBC15_HUMAN TBC1 domain family, member 15 405 Rab-GAP TBC. protein binding|Rab GTPase activator activity p.R396K(1)|p.R405K(1) NS(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(8)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 24 TCGAGGTTAAGAGATTATAGA 0.333000 28 71 0 0 0.099896 0 0 CGN 57530 broad.mit.edu 37 1 151491775 151491775 + Silent SNP C C T TCGA-DK-A1AB-01A-11D-A13W-08 TCGA-DK-A1AB-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f0fb2ba-0351-4ce0-8b74-31aa3deecae1 6bb1a3eb-1659-4df1-935d-f8b2d710ace4 g.chr1:151491775C>T ENST00000271636.7 + 2 913 c.780C>T c.(778-780)ctC>ctT p.L260L NM_020770.2 NP_065821.1 Q9P2M7 CING_HUMAN cingulin 254 Head.|Interacts with ZO-2. myosin complex|tight junction actin binding|motor activity p.L260L(2) NS(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 45 Ovarian(49;0.0273)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185) LUSC - Lung squamous cell carcinoma(543;0.181) TGAGTCCTCTCAGTGGCTTTA 0.582000 13 40 0 0 0.105934 0 0 SMG6 23293 broad.mit.edu 37 17 2202737 2202737 + Missense_Mutation SNP C C A TCGA-DK-A1AB-01A-11D-A13W-08 TCGA-DK-A1AB-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f0fb2ba-0351-4ce0-8b74-31aa3deecae1 6bb1a3eb-1659-4df1-935d-f8b2d710ace4 g.chr17:2202737C>A ENST00000544865.1 - 2 1727 c.1217G>T c.(1216-1218)gGa>gTa p.G406V SMG6_ENST00000263073.6_Missense_Mutation_p.G437V Q86US8 EST1A_HUMAN SMG6 nonsense mediated mRNA decay factor 437 Interaction with telomeric DNA. mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation|telomere maintenance chromosome, telomeric region|cytosol|nucleolus|telomerase holoenzyme complex endoribonuclease activity|metal ion binding|protein binding|telomeric DNA binding p.G437V(1) NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(7)|lung(10)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 45 ACTACCAGATCCAAACAAAAG 0.542000 42 78 1.96642e-18 2.17711e-18 0.092188 1 0 TBC1D9B 23061 broad.mit.edu 37 5 179318451 179318451 + Silent SNP G G A TCGA-DK-A1AB-01A-11D-A13W-08 TCGA-DK-A1AB-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f0fb2ba-0351-4ce0-8b74-31aa3deecae1 6bb1a3eb-1659-4df1-935d-f8b2d710ace4 g.chr5:179318451G>A ENST00000356834.3 - 6 1009 c.972C>T c.(970-972)ttC>ttT p.F324F TBC1D9B_ENST00000355235.3_Silent_p.F324F NM_198868.2 NP_942568.2 Q66K14 TBC9B_HUMAN TBC1 domain family, member 9B (with GRAM domain) 324 GRAM 2. integral to membrane|intracellular calcium ion binding|Rab GTPase activator activity p.F324F(2) breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 28 all_cancers(89;0.000197)|all_epithelial(37;6.84e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243) all_cancers(40;0.0236)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) TGTTGGAGATGAACATCTGGC 0.597000 32 61 0 0 0.054565 0 0 POTEC 388468 broad.mit.edu 37 18 14513764 14513764 + Missense_Mutation SNP C C T TCGA-DK-A1AB-01A-11D-A13W-08 TCGA-DK-A1AB-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f0fb2ba-0351-4ce0-8b74-31aa3deecae1 6bb1a3eb-1659-4df1-935d-f8b2d710ace4 g.chr18:14513764C>T ENST00000358970.5 - 10 1429 c.1430G>A c.(1429-1431)cGg>cAg p.R477Q NM_001137671.1 NP_001131143.1 B2RU33 POTEC_HUMAN POTE ankyrin domain family, member C 477 p.R477Q(12) NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3) 52 AAGTTGTTTCCGGGTATCATT 0.358000 4 48 0 0 0.009096 0 0 CLUAP1 23059 broad.mit.edu 37 16 3569975 3569975 + Missense_Mutation SNP G G A TCGA-DK-A1AB-01A-11D-A13W-08 TCGA-DK-A1AB-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f0fb2ba-0351-4ce0-8b74-31aa3deecae1 6bb1a3eb-1659-4df1-935d-f8b2d710ace4 g.chr16:3569975G>A ENST00000571025.1 + 7 702 c.652G>A c.(652-654)Gaa>Aaa p.E218K CLUAP1_ENST00000445795.2_5'UTR|CLUAP1_ENST00000572600.1_Missense_Mutation_p.E52K|CLUAP1_ENST00000576634.1_Missense_Mutation_p.E218K|CLUAP1_ENST00000417763.2_Missense_Mutation_p.E52K|CLUAP1_ENST00000341633.5_Missense_Mutation_p.E218K Q96AJ1 CLUA1_HUMAN clusterin associated protein 1 218 nucleus protein binding p.E218K(2) breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(1)|ovary(1)|pancreas(1)|urinary_tract(2) 16 AGCCAAAATCGAAAAGAGAAA 0.383000 40 147 0 0 0.098360 0 0 PTPRG 5793 broad.mit.edu 37 3 62261595 62261595 + Silent SNP G G A TCGA-DK-A1AB-01A-11D-A13W-08 TCGA-DK-A1AB-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f0fb2ba-0351-4ce0-8b74-31aa3deecae1 6bb1a3eb-1659-4df1-935d-f8b2d710ace4 g.chr3:62261595G>A ENST00000474889.1 + 24 3890 c.3513G>A c.(3511-3513)caG>caA p.Q1171Q PTPRG-AS1_ENST00000495542.1_RNA|PTPRG-AS1_ENST00000462497.1_RNA|PTPRG-AS1_ENST00000474795.1_RNA|PTPRG_ENST00000295874.10_Silent_p.Q1142Q|PTPRG-AS1_ENST00000479018.1_RNA|PTPRG-AS1_ENST00000475371.1_RNA NM_002841.3 NP_002832.3 P23470 PTPRG_HUMAN protein tyrosine phosphatase, receptor type, G 1171 Tyrosine-protein phosphatase 2. transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane identical protein binding|transmembrane receptor protein tyrosine phosphatase activity p.Q1171Q(1) NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|liver(2)|lung(15)|ovary(7)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 62 BRCA - Breast invasive adenocarcinoma(55;0.000376)|KIRC - Kidney renal clear cell carcinoma(10;0.0499)|Kidney(10;0.065) TCAGTGCTCAGAAAGAGTGTA 0.318000 20 27 0 0 0.069288 0 0 RIPPLY2 134701 broad.mit.edu 37 6 84563822 84563822 + Missense_Mutation SNP G G A TCGA-DK-A1AB-01A-11D-A13W-08 TCGA-DK-A1AB-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f0fb2ba-0351-4ce0-8b74-31aa3deecae1 6bb1a3eb-1659-4df1-935d-f8b2d710ace4 g.chr6:84563822G>A ENST00000369689.1 + 3 332 c.181G>A c.(181-183)Gat>Aat p.D61N RIPPLY2_ENST00000369687.1_Missense_Mutation_p.D3N NM_001009994.1 NP_001009994.1 Q5TAB7 RIPP2_HUMAN ripply transcriptional repressor 2 61 somite rostral/caudal axis specification nucleus p.D61N(1) large_intestine(2)|lung(4)|urinary_tract(1) 7 CCAGATGCCCGATGGCCCTGG 0.577000 17 34 0 0 0.049695 0 0 TRIM59 286827 broad.mit.edu 37 3 160156757 160156757 + Missense_Mutation SNP G G C TCGA-DK-A1AB-01A-11D-A13W-08 TCGA-DK-A1AB-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f0fb2ba-0351-4ce0-8b74-31aa3deecae1 6bb1a3eb-1659-4df1-935d-f8b2d710ace4 g.chr3:160156757G>C ENST00000543469.1 - 2 429 c.215C>G c.(214-216)tCt>tGt p.S72C RP11-432B6.3_ENST00000483754.1_Missense_Mutation_p.S72C|TRIM59_ENST00000309784.4_Missense_Mutation_p.S72C Q8IWR1 TRI59_HUMAN tripartite motif containing 59 72 integral to membrane|intracellular zinc ion binding p.S72C(1) breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|urinary_tract(3) 15 Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523) AACAGGTAAAGATTCAATGCC 0.393000 41 123 0 0 0.086207 0 0 CSMD3 114788 broad.mit.edu 37 8 113348981 113348981 + Nonsense_Mutation SNP G G A TCGA-DK-A1AB-01A-11D-A13W-08 TCGA-DK-A1AB-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f0fb2ba-0351-4ce0-8b74-31aa3deecae1 6bb1a3eb-1659-4df1-935d-f8b2d710ace4 g.chr8:113348981G>A ENST00000297405.5 - 44 7163 c.6919C>T c.(6919-6921)Caa>Taa p.Q2307* CSMD3_ENST00000343508.3_Nonsense_Mutation_p.Q2267*|CSMD3_ENST00000352409.3_Nonsense_Mutation_p.Q2237*|CSMD3_ENST00000455883.2_Nonsense_Mutation_p.Q2203* NM_198123.1 NP_937756.1 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 2307 CUB 13. integral to membrane|plasma membrane p.Q2267*(1)|p.Q2307*(1) breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7) 646 AAACAATCTTGAAAGTTTGGA 0.373000 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 34 135 0 0 0.064281 0 0 MARCH6 10299 broad.mit.edu 37 5 10391798 10391798 + Missense_Mutation SNP G G A TCGA-DK-A1AB-01A-11D-A13W-08 TCGA-DK-A1AB-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f0fb2ba-0351-4ce0-8b74-31aa3deecae1 6bb1a3eb-1659-4df1-935d-f8b2d710ace4 g.chr5:10391798G>A ENST00000274140.5 + 7 853 c.721G>A c.(721-723)Gac>Aac p.D241N MARCH6_ENST00000449913.2_Missense_Mutation_p.D193N|MARCH6_ENST00000503788.1_Missense_Mutation_p.D136N NM_005885.3 NP_005876.2 O60337 MARH6_HUMAN membrane-associated ring finger (C3HC4) 6, E3 ubiquitin protein ligase 241 protein K48-linked ubiquitination integral to endoplasmic reticulum membrane ubiquitin conjugating enzyme binding|ubiquitin-protein ligase activity|zinc ion binding p.D241N(1) breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(35)|ovary(1)|urinary_tract(3) 54 ggaggaagatgaCGCTGGTGT 0.552000 6 18 0 0 0.021553 0 0 HSP90AB2P 391634 broad.mit.edu 37 4 13339251 13339251 + RNA SNP G G A TCGA-DK-A1AB-01A-11D-A13W-08 TCGA-DK-A1AB-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f0fb2ba-0351-4ce0-8b74-31aa3deecae1 6bb1a3eb-1659-4df1-935d-f8b2d710ace4 g.chr4:13339251G>A ENST00000602906.1 + 0 862 kidney(3)|lung(1) 4 GGTTGACTCTGAGGATTTCCC 0.438000 7 22 0 0 0.029380 0 0 ZNF575 284346 broad.mit.edu 37 19 44039832 44039832 + Missense_Mutation SNP G G C TCGA-DK-A1AB-01A-11D-A13W-08 TCGA-DK-A1AB-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f0fb2ba-0351-4ce0-8b74-31aa3deecae1 6bb1a3eb-1659-4df1-935d-f8b2d710ace4 g.chr19:44039832G>C ENST00000458714.2 + 5 1835 c.1028G>C c.(1027-1029)aGa>aCa p.R343T ZNF575_ENST00000314228.5_Missense_Mutation_p.R244T|ZNF575_ENST00000601282.1_Missense_Mutation_p.R244T Q86XF7 ZN575_HUMAN zinc finger protein 575 244 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.R244T(1) large_intestine(1)|lung(1)|prostate(1)|urinary_tract(1) 4 Prostate(69;0.0199) AAGGGGGAGAGAGACTGAGCC 0.612000 5 19 0 0 0.021553 0 0 LMAN2L 81562 broad.mit.edu 37 2 97373526 97373526 + Missense_Mutation SNP C C G TCGA-DK-A1AB-01A-11D-A13W-08 TCGA-DK-A1AB-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f0fb2ba-0351-4ce0-8b74-31aa3deecae1 6bb1a3eb-1659-4df1-935d-f8b2d710ace4 g.chr2:97373526C>G ENST00000264963.4 - 7 851 c.829G>C c.(829-831)Gag>Cag p.E277Q LMAN2L_ENST00000426463.2_Missense_Mutation_p.E143Q|LMAN2L_ENST00000377079.4_Missense_Mutation_p.E288Q|LMAN2L_ENST00000534882.1_Missense_Mutation_p.E132Q|LMAN2L_ENST00000537039.1_Missense_Mutation_p.E139Q NM_030805.3 NP_110432.1 Q9H0V9 LMA2L_HUMAN lectin, mannose-binding 2-like 277 ER to Golgi vesicle-mediated transport|protein folding|protein transport endoplasmic reticulum membrane|ER to Golgi transport vesicle|Golgi membrane|integral to membrane mannose binding|metal ion binding p.E277Q(1) NS(1)|breast(1)|endometrium(1)|lung(2)|skin(1)|urinary_tract(1) 7 GGGGTTCTCTCCACTGTCAGT 0.453000 40 109 0 0 0.086207 0 0 CLGN 1047 broad.mit.edu 37 4 141320087 141320087 + Missense_Mutation SNP C C G TCGA-DK-A1AB-01A-11D-A13W-08 TCGA-DK-A1AB-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f0fb2ba-0351-4ce0-8b74-31aa3deecae1 6bb1a3eb-1659-4df1-935d-f8b2d710ace4 g.chr4:141320087C>G ENST00000325617.5 - 8 1242 c.802G>C c.(802-804)Gaa>Caa p.E268Q CLGN_ENST00000414773.1_Missense_Mutation_p.E268Q|CLGN_ENST00000537281.1_Missense_Mutation_p.E268Q NM_004362.2 NP_004353.1 O14967 CLGN_HUMAN calmegin 268 protein folding endoplasmic reticulum membrane|integral to membrane calcium ion binding|unfolded protein binding p.E268Q(1) breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(5)|ovary(2)|prostate(3)|skin(4)|urinary_tract(1) 25 all_hematologic(180;0.162) TTGGGATCTTCAATTTCTTTG 0.408000 9 215 0 0 0.047766 0 0 IPO8 10526 broad.mit.edu 37 12 30833508 30833508 + Nonsense_Mutation SNP G G A TCGA-DK-A1AB-01A-11D-A13W-08 TCGA-DK-A1AB-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f0fb2ba-0351-4ce0-8b74-31aa3deecae1 6bb1a3eb-1659-4df1-935d-f8b2d710ace4 g.chr12:30833508G>A ENST00000256079.4 - 5 885 c.547C>T c.(547-549)Cag>Tag p.Q183* NM_006390.3 NP_006381.2 O15397 IPO8_HUMAN importin 8 183 intracellular protein transport|signal transduction cytoplasm|nucleus protein transporter activity|Ran GTPase binding p.Q183*(1) breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(16)|liver(1)|lung(22)|prostate(2)|skin(2)|urinary_tract(2) 52 all_lung(12;6.66e-10)|Lung NSC(12;4.84e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233) ATTTGTTGCTGAATACGAGGC 0.343000 71 140 0 0 0.139131 0 0 BPTF 2186 broad.mit.edu 37 17 65882295 65882295 + Missense_Mutation SNP C C T TCGA-DK-A1AB-01A-11D-A13W-08 TCGA-DK-A1AB-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f0fb2ba-0351-4ce0-8b74-31aa3deecae1 6bb1a3eb-1659-4df1-935d-f8b2d710ace4 g.chr17:65882295C>T ENST00000321892.4 + 6 2166 c.2105C>T c.(2104-2106)tCc>tTc p.S702F BPTF_ENST00000424123.3_Missense_Mutation_p.S563F|BPTF_ENST00000335221.5_Missense_Mutation_p.S702F|BPTF_ENST00000306378.6_Intron Q12830 BPTF_HUMAN bromodomain PHD finger transcription factor 702 Interaction with KEAP1. brain development|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|NURF complex sequence-specific DNA binding|transcription factor binding|zinc ion binding p.S702F(1) NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2) 78 all_cancers(12;6e-11) BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24) ACCACTACCTCCATCCAGCCT 0.378000 34 59 0 0 0.069456 0 0 PPP4R2 151987 broad.mit.edu 37 3 73114241 73114241 + Silent SNP C C A TCGA-DK-A1AB-01A-11D-A13W-08 TCGA-DK-A1AB-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f0fb2ba-0351-4ce0-8b74-31aa3deecae1 6bb1a3eb-1659-4df1-935d-f8b2d710ace4 g.chr3:73114241C>A ENST00000356692.5 + 8 1130 c.877C>A c.(877-879)Cgg>Agg p.R293R PPP4R2_ENST00000295862.9_Silent_p.R237R|PPP4R2_ENST00000394284.3_Silent_p.R236R Q9NY27 PP4R2_HUMAN protein phosphatase 4, regulatory subunit 2 293 mRNA processing|protein modification process|regulation of double-strand break repair via homologous recombination|RNA splicing centrosome|nucleus|protein phosphatase 4 complex protein binding, bridging|protein phosphatase type 4 regulator activity p.R293R(1) breast(2)|endometrium(1)|large_intestine(1)|lung(3)|skin(2)|stomach(1)|urinary_tract(2) 12 Prostate(10;0.0187)|Lung SC(41;0.236) Epithelial(33;1.76e-07)|BRCA - Breast invasive adenocarcinoma(55;9.42e-05)|LUSC - Lung squamous cell carcinoma(21;0.00211)|Lung(16;0.00643)|KIRC - Kidney renal clear cell carcinoma(39;0.0164)|Kidney(39;0.0193)|OV - Ovarian serous cystadenocarcinoma(275;0.031) CCGTTGTACCCGGCAGCACTG 0.428000 3 34 0.004672 0.00501149 0.115264 1 0 P2RX4 5025 broad.mit.edu 37 12 121654802 121654802 + Missense_Mutation SNP G G A TCGA-DK-A1AB-01A-11D-A13W-08 TCGA-DK-A1AB-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f0fb2ba-0351-4ce0-8b74-31aa3deecae1 6bb1a3eb-1659-4df1-935d-f8b2d710ace4 g.chr12:121654802G>A ENST00000359949.7 + 2 279 c.179G>A c.(178-180)aGa>aAa p.R60K P2RX4_ENST00000541532.1_Intron|P2RX4_ENST00000540930.1_Intron|P2RX4_ENST00000543171.1_Intron|P2RX4_ENST00000337233.4_Intron NM_001256796.1 NP_001243725.1 Q99571 P2RX4_HUMAN purinergic receptor P2X, ligand-gated ion channel, 4 45 endothelial cell activation|negative regulation of cardiac muscle hypertrophy|positive regulation of calcium ion transport into cytosol|positive regulation of calcium-mediated signaling|positive regulation of nitric oxide biosynthetic process|positive regulation of prostaglandin secretion|regulation of apoptosis|regulation of blood pressure|regulation of sodium ion transport|relaxation of cardiac muscle|response to ATP|response to fluid shear stress|sensory perception of pain|tissue homeostasis cell junction|perinuclear region of cytoplasm cadherin binding|copper ion binding|extracellular ATP-gated cation channel activity|protein homodimerization activity|purinergic nucleotide receptor activity|receptor binding|zinc ion binding breast(1)|kidney(4)|large_intestine(4)|lung(7)|prostate(1) 17 all_neural(191;0.0684)|Medulloblastoma(191;0.0922) gagtcccctagaaggtacgta 0.463000 12 21 0 0 0.080935 0 0 MEGF8 1954 broad.mit.edu 37 19 42848852 42848852 + Nonsense_Mutation SNP C C G TCGA-DK-A1AB-01A-11D-A13W-08 TCGA-DK-A1AB-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f0fb2ba-0351-4ce0-8b74-31aa3deecae1 6bb1a3eb-1659-4df1-935d-f8b2d710ace4 g.chr19:42848852C>G ENST00000334370.4 + 12 2599 c.1964C>G c.(1963-1965)tCa>tGa p.S655* MEGF8_ENST00000251268.6_Nonsense_Mutation_p.S655* NM_001410.2 NP_001401.2 Q7Z7M0 MEGF8_HUMAN multiple EGF-like-domains 8 705 integral to membrane calcium ion binding|structural molecule activity p.S655*(2)|p.S196*(1) breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 50 Prostate(69;0.00682) GAGCAGATCTCAGGCACTGTG 0.687000 13 43 0 0 0.033300 0 0 IGHV1OR21-1 390530 broad.mit.edu 37 21 10862897 10862897 + RNA SNP G G C TCGA-DK-A1AB-01A-11D-A13W-08 TCGA-DK-A1AB-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f0fb2ba-0351-4ce0-8b74-31aa3deecae1 6bb1a3eb-1659-4df1-935d-f8b2d710ace4 g.chr21:10862897G>C ENST00000559480.1 + 0 193 p.E65Q(1) breast(1)|endometrium(1)|kidney(3)|lung(20)|urinary_tract(1) 26 ACAAGGGCTTGAGTGGATGGG 0.557000 20 192 0 0 0.099896 0 0 FREM1 158326 broad.mit.edu 37 9 14776080 14776080 + Missense_Mutation SNP C C T rs61735747 by1000genomes TCGA-DK-A1AB-01A-11D-A13W-08 TCGA-DK-A1AB-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f0fb2ba-0351-4ce0-8b74-31aa3deecae1 6bb1a3eb-1659-4df1-935d-f8b2d710ace4 g.chr9:14776080C>T ENST00000380881.4 - 26 5382 c.4567G>A c.(4567-4569)Gtg>Atg p.V1523M FREM1_ENST00000422223.2_Missense_Mutation_p.V1522M|FREM1_ENST00000380894.1_Missense_Mutation_p.V58M|FREM1_ENST00000380880.3_Missense_Mutation_p.V1522M Q5H8C1 FREM1_HUMAN FRAS1 related extracellular matrix 1 1522 cell communication|multicellular organismal development basement membrane|integral to membrane metal ion binding|sugar binding p.V1523M(1) breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 100 GBM - Glioblastoma multiforme(50;3.53e-06) AGCAGGCCCACGGCCCCTTGG 0.617000 27 67 0 0 0.108266 0 0 NLRC5 84166 broad.mit.edu 37 16 57063929 57063929 + Missense_Mutation SNP G G A TCGA-DK-A1AB-01A-11D-A13W-08 TCGA-DK-A1AB-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f0fb2ba-0351-4ce0-8b74-31aa3deecae1 6bb1a3eb-1659-4df1-935d-f8b2d710ace4 g.chr16:57063929G>A ENST00000436936.1 + 10 2575 c.2350G>A c.(2350-2352)Gtg>Atg p.V784M NLRC5_ENST00000539144.1_Missense_Mutation_p.V784M|NLRC5_ENST00000262510.6_Missense_Mutation_p.V784M|NLRC5_ENST00000308149.7_Missense_Mutation_p.V784M Q86WI3 NLRC5_HUMAN NLR family, CARD domain containing 5 784 defense response to virus|innate immune response|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|negative regulation of type I interferon-mediated signaling pathway|positive regulation of interferon-gamma-mediated signaling pathway|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type I interferon-mediated signaling pathway|regulation of kinase activity cytosol|nucleus ATP binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding p.V784M(1) NS(2)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(21)|ovary(8)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 75 all_neural(199;0.225) CAGCATCTGCGTGTCAACCCT 0.577000 20 58 0 0 0.043863 0 0 RAB3GAP1 22930 broad.mit.edu 37 2 135883809 135883809 + Missense_Mutation SNP G G A TCGA-DK-A1AB-01A-11D-A13W-08 TCGA-DK-A1AB-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f0fb2ba-0351-4ce0-8b74-31aa3deecae1 6bb1a3eb-1659-4df1-935d-f8b2d710ace4 g.chr2:135883809G>A ENST00000264158.8 + 10 932 c.889G>A c.(889-891)Gat>Aat p.D297N RAB3GAP1_ENST00000487003.1_3'UTR|RAB3GAP1_ENST00000539493.1_Missense_Mutation_p.D253N|RAB3GAP1_ENST00000442034.1_Missense_Mutation_p.D297N NM_012233.2 NP_036365.1 Q15042 RB3GP_HUMAN RAB3 GTPase activating protein subunit 1 (catalytic) 297 centrosome|nucleus|soluble fraction Rab GTPase activator activity|Rab GTPase binding p.D297N(1) 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) TGTGGATAATGATGTTTATTC 0.308000 28 86 0 0 0.116897 0 0 AHNAK2 113146 broad.mit.edu 37 14 105410194 105410194 + Missense_Mutation SNP C C T TCGA-DK-A1AB-01A-11D-A13W-08 TCGA-DK-A1AB-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f0fb2ba-0351-4ce0-8b74-31aa3deecae1 6bb1a3eb-1659-4df1-935d-f8b2d710ace4 g.chr14:105410194C>T ENST00000333244.5 - 7 11713 c.11594G>A c.(11593-11595)cGc>cAc p.R3865H AHNAK2_ENST00000557457.1_Intron NM_138420.2 NP_612429.2 Q8IVF2 AHNK2_HUMAN AHNAK nucleoprotein 2 3865 nucleus p.R3865H(1) cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3) 33 all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183) all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116) GTCCACCTGGCGAGCTTGGAC 0.607000 63 154 0 0 0.139131 0 0 MEGF10 84466 broad.mit.edu 37 5 126734416 126734416 + Missense_Mutation SNP G G C TCGA-DK-A1AB-01A-11D-A13W-08 TCGA-DK-A1AB-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f0fb2ba-0351-4ce0-8b74-31aa3deecae1 6bb1a3eb-1659-4df1-935d-f8b2d710ace4 g.chr5:126734416G>C ENST00000274473.6 + 8 975 c.708G>C c.(706-708)caG>caC p.Q236H MEGF10_ENST00000503335.2_Missense_Mutation_p.Q236H|MEGF10_ENST00000418761.2_Missense_Mutation_p.Q236H|MEGF10_ENST00000508365.1_Missense_Mutation_p.Q236H NM_032446.2 NP_115822.1 Q96KG7 MEG10_HUMAN multiple EGF-like-domains 10 236 EGF-like 4.|Necessary for interaction with AP2M1, self-assembly and formation of the irregular, mosaic-like adhesion pattern. cell adhesion|phagocytosis basolateral plasma membrane|cell projection|integral to membrane|phagocytic cup p.Q236H(1) breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(28)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 68 Prostate(80;0.165) KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488) OV - Ovarian serous cystadenocarcinoma(64;0.0657)|Epithelial(69;0.123) AGTGTGAGCAGAGATGCCCTT 0.507000 23 71 0 0 0.069288 0 0 URB2 9816 broad.mit.edu 37 1 229773864 229773864 + Silent SNP C C T rs114023508 byFrequency TCGA-DK-A1AB-01A-11D-A13W-08 TCGA-DK-A1AB-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f0fb2ba-0351-4ce0-8b74-31aa3deecae1 6bb1a3eb-1659-4df1-935d-f8b2d710ace4 g.chr1:229773864C>T ENST00000258243.2 + 4 3640 c.3504C>T c.(3502-3504)ctC>ctT p.L1168L NM_014777.2 NP_055592.2 Q14146 URB2_HUMAN URB2 ribosome biogenesis 2 homolog (S. cerevisiae) 1168 nucleolus p.L1168L(1) breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(6) 73 TGCCAGCTCTCGCGGGACATG 0.527000 35 64 0 0 0.064281 0 0 CDR1 1038 broad.mit.edu 37 X 139865962 139865962 + Silent SNP G G A TCGA-DK-A1AB-01A-11D-A13W-08 TCGA-DK-A1AB-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f0fb2ba-0351-4ce0-8b74-31aa3deecae1 6bb1a3eb-1659-4df1-935d-f8b2d710ace4 g.chrX:139865962G>A ENST00000370532.2 - 1 761 c.570C>T c.(568-570)ttC>ttT p.F190F NM_004065.2 NP_004056.2 P51861 CDR1_HUMAN cerebellar degeneration-related protein 1, 34kDa 190 5 X 6 AA approximate repeats. p.F190F(1) breast(1)|endometrium(3)|large_intestine(3)|lung(11)|prostate(2)|skin(4)|urinary_tract(1) 25 Acute lymphoblastic leukemia(192;7.65e-05) Lung SC(4;0.051) ACGTCTTCCAGAAAATCCATG 0.448000 69 139 0 0 0.139131 0 0 RYR1 6261 broad.mit.edu 37 19 39001344 39001344 + Silent SNP C C G TCGA-DK-A1AB-01A-11D-A13W-08 TCGA-DK-A1AB-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f0fb2ba-0351-4ce0-8b74-31aa3deecae1 6bb1a3eb-1659-4df1-935d-f8b2d710ace4 g.chr19:39001344C>G ENST00000355481.4 + 60 9176 c.9045C>G c.(9043-9045)ctC>ctG p.L3015L RYR1_ENST00000360985.3_Silent_p.L3015L|RYR1_ENST00000359596.3_Silent_p.L3015L NM_000540.2|NM_001042723.1 NP_000531.2|NP_001036188.1 P21817 RYR1_HUMAN ryanodine receptor 1 (skeletal) 3015 muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity p.L3015L(1) NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7) 285 all_cancers(60;7.91e-06) Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272) Dantrolene(DB01219) ACCACTGCCTCTATTTCTTGT 0.567000 46 152 0 0 0.139131 0 0 COL6A3 1293 broad.mit.edu 37 2 238277324 238277324 + Missense_Mutation SNP G G C TCGA-DK-A1AB-01A-11D-A13W-08 TCGA-DK-A1AB-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f0fb2ba-0351-4ce0-8b74-31aa3deecae1 6bb1a3eb-1659-4df1-935d-f8b2d710ace4 g.chr2:238277324G>C ENST00000295550.4 - 10 5234 c.4782C>G c.(4780-4782)ttC>ttG p.F1594L COL6A3_ENST00000472056.1_Missense_Mutation_p.F987L|COL6A3_ENST00000409809.1_Missense_Mutation_p.F1388L|COL6A3_ENST00000346358.4_Missense_Mutation_p.F1394L|COL6A3_ENST00000347401.3_Missense_Mutation_p.F1393L|COL6A3_ENST00000353578.4_Missense_Mutation_p.F1388L NM_004369.3 NP_004360.2 P12111 CO6A3_HUMAN collagen, type VI, alpha 3 1594 Nonhelical region.|VWFA 8. axon guidance|cell adhesion|muscle organ development collagen type VI|extracellular space serine-type endopeptidase inhibitor activity p.F1594L(1) breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4) 217 Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203) Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034) CTCGCACTGTGAAGACCAGTC 0.547000 33 229 0 0 0.059317 0 0 ZNF582 147948 broad.mit.edu 37 19 56895710 56895710 + Missense_Mutation SNP C C T TCGA-DK-A1AB-01A-11D-A13W-08 TCGA-DK-A1AB-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f0fb2ba-0351-4ce0-8b74-31aa3deecae1 6bb1a3eb-1659-4df1-935d-f8b2d710ace4 g.chr19:56895710C>T ENST00000301310.4 - 5 1234 c.1076G>A c.(1075-1077)aGa>aAa p.R359K ZNF582_ENST00000586929.1_Missense_Mutation_p.R359K NM_144690.1 NP_653291.1 Q96NG8 ZN582_HUMAN zinc finger protein 582 359 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.R359K(1) endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 26 Colorectal(82;0.000256)|Ovarian(87;0.243) GBM - Glioblastoma multiforme(193;0.0547) GGTATGAATTCTCTGATGTCG 0.418000 25 193 0 0 0.083992 0 0 MIR410 574434 broad.mit.edu 37 14 101532269 101532269 + RNA SNP C C A TCGA-DK-A1AB-01A-11D-A13W-08 TCGA-DK-A1AB-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f0fb2ba-0351-4ce0-8b74-31aa3deecae1 6bb1a3eb-1659-4df1-935d-f8b2d710ace4 g.chr14:101532269C>A ENST00000362222.2 + 0 21 NR_030156.1 AAGAGGTTGTCTGTGATGAGT 0.607000 4 47 0.00909568 0.00968956 0.009096 1 0 ADAM21P1 145241 broad.mit.edu 37 14 70713661 70713661 + RNA SNP G G T TCGA-DK-A1AB-01A-11D-A13W-08 TCGA-DK-A1AB-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f0fb2ba-0351-4ce0-8b74-31aa3deecae1 6bb1a3eb-1659-4df1-935d-f8b2d710ace4 g.chr14:70713661G>T ENST00000530196.1 - 0 857 NR_003951.1 CCACTATGTTGACAACAAGAA 0.368000 31 97 3.99451e-17 4.40675e-17 0.144211 1 0 SLCO6A1 133482 broad.mit.edu 37 5 101834305 101834305 + Missense_Mutation SNP C C G TCGA-DK-A1AB-01A-11D-A13W-08 TCGA-DK-A1AB-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f0fb2ba-0351-4ce0-8b74-31aa3deecae1 6bb1a3eb-1659-4df1-935d-f8b2d710ace4 g.chr5:101834305C>G ENST00000506729.1 - 1 415 c.244G>C c.(244-246)Gat>Cat p.D82H SLCO6A1_ENST00000389019.3_Missense_Mutation_p.D82H|SLCO6A1_ENST00000513675.1_Missense_Mutation_p.D82H|SLCO6A1_ENST00000514551.1_5'UTR|SLCO6A1_ENST00000379807.3_Missense_Mutation_p.D82H|SLCO6A1_ENST00000379810.1_Missense_Mutation_p.D82H Q86UG4 SO6A1_HUMAN solute carrier organic anion transporter family, member 6A1 82 integral to membrane|plasma membrane transporter activity p.D82H(1) 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) AAACTGTCATCCACTTCTCCC 0.493000 61 115 0 0 0.139131 0 0 SRR 63826 broad.mit.edu 37 17 2222174 2222174 + Missense_Mutation SNP C C G TCGA-DK-A1AB-01A-11D-A13W-08 TCGA-DK-A1AB-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f0fb2ba-0351-4ce0-8b74-31aa3deecae1 6bb1a3eb-1659-4df1-935d-f8b2d710ace4 g.chr17:2222174C>G ENST00000344595.5 + 4 668 c.350C>G c.(349-351)gCa>gGa p.A117G SRR_ENST00000576848.1_Intron NM_021947.1 NP_068766.1 Q9GZT4 SRR_HUMAN serine racemase 117 D-serine biosynthetic process|L-serine metabolic process|protein homotetramerization|pyruvate biosynthetic process|response to lipopolysaccharide cytoplasm|neuronal cell body|soluble fraction ATP binding|calcium ion binding|D-serine ammonia-lyase activity|glycine binding|L-serine ammonia-lyase activity|magnesium ion binding|PDZ domain binding|protein homodimerization activity|pyridoxal phosphate binding|serine racemase activity|threonine racemase activity p.A117G(1) NS(1)|large_intestine(3)|lung(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 8 Colorectal(1115;3.46e-05)|Myeloproliferative disorder(207;0.0255) COAD - Colon adenocarcinoma(228;3.24e-06)|READ - Rectum adenocarcinoma(1115;0.0649) L-Serine(DB00133)|Pyridoxal Phosphate(DB00114) AAAAAACTTGCAATACAAGCC 0.438000 57 95 0 0 0.139131 0 0 SPATA17 128153 broad.mit.edu 37 1 217975148 217975148 + Missense_Mutation SNP G G C TCGA-DK-A1AB-01A-11D-A13W-08 TCGA-DK-A1AB-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f0fb2ba-0351-4ce0-8b74-31aa3deecae1 6bb1a3eb-1659-4df1-935d-f8b2d710ace4 g.chr1:217975148G>C ENST00000366933.4 + 9 1016 c.961G>C c.(961-963)Gaa>Caa p.E321Q SPATA17_ENST00000471021.1_3'UTR NM_138796.2 NP_620151.1 Q96L03 SPT17_HUMAN spermatogenesis associated 17 321 cytoplasm calmodulin binding p.E321Q(1) endometrium(1)|kidney(1)|large_intestine(9)|lung(6)|pancreas(2)|prostate(1)|urinary_tract(1) 21 OV - Ovarian serous cystadenocarcinoma(81;0.0516)|all cancers(67;0.0891)|GBM - Glioblastoma multiforme(131;0.117) TTCTTACAAAGAACAATTCCG 0.294000 13 51 0 0 0.093190 0 0 NPBWR2 2832 broad.mit.edu 37 20 62737520 62737520 + Missense_Mutation SNP A A C TCGA-DK-A1AB-01A-11D-A13W-08 TCGA-DK-A1AB-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f0fb2ba-0351-4ce0-8b74-31aa3deecae1 6bb1a3eb-1659-4df1-935d-f8b2d710ace4 g.chr20:62737520A>C ENST00000369768.1 - 1 1004 c.665T>G c.(664-666)gTg>gGg p.V222G NM_005286.2 NP_005277.2 P48146 NPBW2_HUMAN neuropeptides B/W receptor 2 222 plasma membrane opioid receptor activity|protein binding p.V222G(1) haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 all_cancers(38;2.58e-11)|all_epithelial(29;6.4e-13)|Lung NSC(23;1.25e-09)|all_lung(23;4.21e-09) CACGGGCAGCACGAAGCCCAG 0.657000 8 19 0 0 0.069234 0 0 CTAGE5 4253 broad.mit.edu 37 14 39783995 39783995 + Nonsense_Mutation SNP C C T TCGA-DK-A1AB-01A-11D-A13W-08 TCGA-DK-A1AB-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f0fb2ba-0351-4ce0-8b74-31aa3deecae1 6bb1a3eb-1659-4df1-935d-f8b2d710ace4 g.chr14:39783995C>T ENST00000553728.1 + 19 3166 c.2953C>T c.(2953-2955)Caa>Taa p.Q985* CTAGE5_ENST00000396165.4_Nonsense_Mutation_p.Q421*|CTAGE5_ENST00000341749.3_Nonsense_Mutation_p.Q438*|CTAGE5_ENST00000341502.5_Nonsense_Mutation_p.Q450*|CTAGE5_ENST00000556148.1_Nonsense_Mutation_p.Q375*|CTAGE5_ENST00000557038.1_Nonsense_Mutation_p.Q370*|CTAGE5_ENST00000348007.3_Nonsense_Mutation_p.Q450*|CTAGE5_ENST00000396158.2_Nonsense_Mutation_p.Q455*|RP11-407N17.3_ENST00000603904.1_Nonsense_Mutation_p.Q421*|CTAGE5_ENST00000553352.1_Nonsense_Mutation_p.Q421*|CTAGE5_ENST00000280083.3_Nonsense_Mutation_p.Q450* p.Q450*(1) TCATTCTTATCAAGGGCAGGT 0.294000 19 53 0 0 0.049695 0 0 MT-CO3 4514 broad.mit.edu 37 MT 9208 9208 + Splice_Site SNP T T C TCGA-DK-A1AB-01A-11D-A13W-08 TCGA-DK-A1AB-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f0fb2ba-0351-4ce0-8b74-31aa3deecae1 6bb1a3eb-1659-4df1-935d-f8b2d710ace4 g.chrM:9208T>C ENST00000362079.2 + 1 2 c.2T>C c.(1-3)aTg>aCg p.M1T mitochondrially encoded cytochrome c oxidase III breast(1)|endometrium(10)|kidney(14)|lung(1)|urinary_tract(1) 27 ACAACACATAATGACCCACCA 0.483000 4 44 0 0 0.009096 0 0 OR4D10 390197 broad.mit.edu 37 11 59245789 59245789 + Nonsense_Mutation SNP C C G TCGA-DK-A1AB-01A-11D-A13W-08 TCGA-DK-A1AB-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f0fb2ba-0351-4ce0-8b74-31aa3deecae1 6bb1a3eb-1659-4df1-935d-f8b2d710ace4 g.chr11:59245789C>G ENST00000530162.1 + 1 944 c.887C>G c.(886-888)tCa>tGa p.S296* NM_001004705.1 NP_001004705.1 Q8NGI6 OR4DA_HUMAN olfactory receptor, family 4, subfamily D, member 10 296 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.S294*(1)|p.S296*(1) NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 30 GAGATGAAGTCAGCCATGAGG 0.428000 9 31 0 0 0.047766 0 0 TAS2R43 259289 broad.mit.edu 37 12 11244751 11244751 + Silent SNP G G A TCGA-DK-A1AB-01A-11D-A13W-08 TCGA-DK-A1AB-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f0fb2ba-0351-4ce0-8b74-31aa3deecae1 6bb1a3eb-1659-4df1-935d-f8b2d710ace4 g.chr12:11244751G>A ENST00000531678.1 - 1 161 c.78C>T c.(76-78)ttC>ttT p.F26F TAS2R14_ENST00000381852.4_Intron|PRR4_ENST00000536668.1_Intron NM_176884.2 NP_795365.2 P59537 T2R43_HUMAN taste receptor, type 2, member 43 26 detection of chemical stimulus involved in sensory perception of bitter taste cilium membrane|motile cilium bitter taste receptor activity p.F26F(2) endometrium(1)|ovary(1)|prostate(2)|urinary_tract(1) 5 OV - Ovarian serous cystadenocarcinoma(49;0.0344) BRCA - Breast invasive adenocarcinoma(232;0.196) CCAGTGCTATGAAGCCATTAG 0.383000 6 41 0 0 0.043863 0 0 SH3BP4 23677 broad.mit.edu 37 2 235943740 235943740 + Missense_Mutation SNP G G A TCGA-DK-A1AB-01A-11D-A13W-08 TCGA-DK-A1AB-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f0fb2ba-0351-4ce0-8b74-31aa3deecae1 6bb1a3eb-1659-4df1-935d-f8b2d710ace4 g.chr2:235943740G>A ENST00000409212.1 + 3 601 c.94G>A c.(94-96)Gag>Aag p.E32K SH3BP4_ENST00000344528.4_Missense_Mutation_p.E32K|SH3BP4_ENST00000392011.2_Missense_Mutation_p.E32K Q9P0V3 SH3B4_HUMAN SH3-domain binding protein 4 32 endocytosis clathrin-coated vesicle|coated pit|nucleus protein binding p.E32K(1) central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(6)|stomach(3)|urinary_tract(2) 44 Breast(86;0.000332)|Renal(207;0.00339)|all_lung(227;0.00458)|all_hematologic(139;0.0296)|Lung NSC(271;0.0419) Epithelial(121;7.66e-20)|BRCA - Breast invasive adenocarcinoma(100;0.000402)|Lung(119;0.00299)|LUSC - Lung squamous cell carcinoma(224;0.00645)|GBM - Glioblastoma multiforme(43;0.237) AGGGTTTTCAGAGACGAGCTT 0.532000 8 36 0 0 0.038147 0 0 NAA15 80155 broad.mit.edu 37 4 140309202 140309202 + Missense_Mutation SNP T T A TCGA-DK-A1AB-01A-11D-A13W-08 TCGA-DK-A1AB-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f0fb2ba-0351-4ce0-8b74-31aa3deecae1 6bb1a3eb-1659-4df1-935d-f8b2d710ace4 g.chr4:140309202T>A ENST00000296543.5 + 20 2888 c.2565T>A c.(2563-2565)agT>agA p.S855R NAA15_ENST00000398947.1_Missense_Mutation_p.S854R|NAA15_ENST00000515576.1_Intron NM_057175.3 NP_476516.1 Q9BXJ9 NAA15_HUMAN N(alpha)-acetyltransferase 15, NatA auxiliary subunit 855 angiogenesis|cell differentiation|N-terminal protein amino acid acetylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|transcription factor complex protein binding p.S855R(1) NS(1)|endometrium(3)|large_intestine(7)|liver(2)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 29 ATGGAGATAGTTCTGCAGAAG 0.353000 36 85 0 0 0.064281 0 0 DCAF6 55827 broad.mit.edu 37 1 168014277 168014277 + Silent SNP G G A TCGA-DK-A1AB-01A-11D-A13W-08 TCGA-DK-A1AB-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f0fb2ba-0351-4ce0-8b74-31aa3deecae1 6bb1a3eb-1659-4df1-935d-f8b2d710ace4 g.chr1:168014277G>A ENST00000367840.3 + 16 2164 c.2070G>A c.(2068-2070)caG>caA p.Q690Q DCAF6_ENST00000367843.3_Silent_p.Q633Q|DCAF6_ENST00000312263.6_Silent_p.Q613Q|DCAF6_ENST00000432587.2_Silent_p.Q659Q NM_001198956.1 NP_001185885.1 Q58WW2 DCAF6_HUMAN DDB1 and CUL4 associated factor 6 613 IQ. positive regulation of transcription from RNA polymerase II promoter CUL4 RING ubiquitin ligase complex|nucleus ligand-dependent nuclear receptor transcription coactivator activity p.Q633Q(1) NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(8)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 36 CTTCAGATCAGACTAGCACTG 0.453000 37 90 0 0 0.069456 0 0 GTF2IRD1 9569 broad.mit.edu 37 7 73933938 73933938 + Missense_Mutation SNP G G C TCGA-DK-A1AB-01A-11D-A13W-08 TCGA-DK-A1AB-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f0fb2ba-0351-4ce0-8b74-31aa3deecae1 6bb1a3eb-1659-4df1-935d-f8b2d710ace4 g.chr7:73933938G>C ENST00000476977.1 + 6 2496 c.805G>C c.(805-807)Gag>Cag p.E269Q GTF2IRD1_ENST00000265755.3_Missense_Mutation_p.E269Q|GTF2IRD1_ENST00000489094.1_3'UTR|GTF2IRD1_ENST00000424337.2_Missense_Mutation_p.E269Q|GTF2IRD1_ENST00000455841.2_Missense_Mutation_p.E301Q Q9UHL9 GT2D1_HUMAN GTF2I repeat domain containing 1 269 nucleus DNA binding|protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity p.E269Q(1) NS(1)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(19)|ovary(6)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 49 CGCCATCCGAGAGCTCAAGCA 0.687000 12 45 0 0 0.093190 0 0 ZFYVE16 9765 broad.mit.edu 37 5 79732916 79732916 + Missense_Mutation SNP C C T TCGA-DK-A1AB-01A-11D-A13W-08 TCGA-DK-A1AB-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f0fb2ba-0351-4ce0-8b74-31aa3deecae1 6bb1a3eb-1659-4df1-935d-f8b2d710ace4 g.chr5:79732916C>T ENST00000338008.5 + 3 592 c.412C>T c.(412-414)Cat>Tat p.H138Y ZFYVE16_ENST00000505560.1_Missense_Mutation_p.H138Y|ZFYVE16_ENST00000510158.1_Missense_Mutation_p.H138Y NM_001284236.1|NM_014733.3 NP_001271165.1|NP_055548 Q7Z3T8 ZFY16_HUMAN zinc finger, FYVE domain containing 16 138 BMP signaling pathway|endosome transport|protein targeting to lysosome|regulation of endocytosis|vesicle organization early endosome membrane 1-phosphatidylinositol binding|metal ion binding|phosphatidylinositol-3,4,5-trisphosphate binding|protein binding|protein transporter activity p.H138Y(1) breast(4)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(14)|liver(1)|lung(6)|ovary(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 51 Lung NSC(167;0.00428)|all_lung(232;0.00455)|Ovarian(174;0.0261) OV - Ovarian serous cystadenocarcinoma(54;1.6e-46)|Epithelial(54;2.02e-41)|all cancers(79;5.05e-36) TAACTTAGTTCATGCAACCAA 0.358000 17 245 0 0 0.146539 0 0 TTN 7273 broad.mit.edu 37 2 179481949 179481949 + Nonsense_Mutation SNP C C A TCGA-DK-A1AB-01A-11D-A13W-08 TCGA-DK-A1AB-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f0fb2ba-0351-4ce0-8b74-31aa3deecae1 6bb1a3eb-1659-4df1-935d-f8b2d710ace4 g.chr2:179481949C>A ENST00000589042.1 - 255 47997 c.47773G>T c.(47773-47775)Gaa>Taa p.E15925* TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000591111.1_Nonsense_Mutation_p.E14284*|TTN_ENST00000359218.5_Nonsense_Mutation_p.E6985*|TTN_ENST00000460472.2_Nonsense_Mutation_p.E6860*|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342175.6_Nonsense_Mutation_p.E7052*|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Nonsense_Mutation_p.E13357*|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000592630.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 14284 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity p.E13357*(2)|p.E7052*(1)|p.E6985*(1)|p.E6860*(1) NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) TTTCCTTTTTCCAATCCGGTA 0.323000 3 6 0.004672 0.00501149 0.115264 1 0 OXR1 55074 broad.mit.edu 37 8 107763046 107763046 + Silent SNP G G A TCGA-DK-A1AB-01A-11D-A13W-08 TCGA-DK-A1AB-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f0fb2ba-0351-4ce0-8b74-31aa3deecae1 6bb1a3eb-1659-4df1-935d-f8b2d710ace4 g.chr8:107763046G>A ENST00000445937.1 + 16 2679 c.2418G>A c.(2416-2418)gcG>gcA p.A806A OXR1_ENST00000297447.6_Silent_p.A203A|OXR1_ENST00000312046.6_Silent_p.A799A|OXR1_ENST00000442977.2_Silent_p.A834A|OXR1_ENST00000452423.2_Silent_p.A254A|OXR1_ENST00000517566.2_Silent_p.A833A|OXR1_ENST00000531443.1_Silent_p.A806A|OXR1_ENST00000449762.2_Silent_p.A176A|OXR1_ENST00000521592.1_Silent_p.A79A NM_018002.3 NP_060472.2 Q8N573 OXR1_HUMAN oxidation resistance 1 834 TLD. cell wall macromolecule catabolic process|response to oxidative stress mitochondrion p.A834A(1)|p.A718A(1)|p.A203A(1) NS(2)|breast(2)|endometrium(2)|large_intestine(9)|lung(10)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4) 31 OV - Ovarian serous cystadenocarcinoma(57;1.81e-09) GAGAATTTGCGCTTTGGCTTG 0.323000 25 115 0 0 0.091800 0 0 CCDC12 151903 broad.mit.edu 37 3 46963564 46963564 + Missense_Mutation SNP T T G TCGA-DK-A1AB-01A-11D-A13W-08 TCGA-DK-A1AB-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f0fb2ba-0351-4ce0-8b74-31aa3deecae1 6bb1a3eb-1659-4df1-935d-f8b2d710ace4 g.chr3:46963564T>G ENST00000425441.1 - 9 748 c.523A>C c.(523-525)Acc>Ccc p.T175P CCDC12_ENST00000292314.2_Missense_Mutation_p.T175P|CCDC12_ENST00000546280.1_Missense_Mutation_p.T162P NM_001277074.1 NP_001264003.1 Q8WUD4 CCD12_HUMAN coiled-coil domain containing 12 162 p.T162P(1) endometrium(1)|large_intestine(1)|urinary_tract(1) 3 Prostate(884;0.0143)|Ovarian(412;0.0448)|Acute lymphoblastic leukemia(5;0.143) OV - Ovarian serous cystadenocarcinoma(275;2.2e-56)|BRCA - Breast invasive adenocarcinoma(193;0.00136)|KIRC - Kidney renal clear cell carcinoma(197;0.00703)|Kidney(197;0.00809) GAGTCACAGGTCTTTTGTTCG 0.617000 4 14 0 0 0.014758 0 0 PCCB 5096 broad.mit.edu 37 3 136045670 136045670 + Silent SNP G G C TCGA-DK-A1AB-01A-11D-A13W-08 TCGA-DK-A1AB-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f0fb2ba-0351-4ce0-8b74-31aa3deecae1 6bb1a3eb-1659-4df1-935d-f8b2d710ace4 g.chr3:136045670G>C ENST00000471595.1 + 11 1134 c.1116G>C c.(1114-1116)gtG>gtC p.V372V PCCB_ENST00000482086.1_Silent_p.V256V|PCCB_ENST00000466072.1_Silent_p.V392V|PCCB_ENST00000483687.1_Silent_p.V353V|PCCB_ENST00000468777.1_Silent_p.V403V|PCCB_ENST00000478469.1_Intron|PCCB_ENST00000474833.1_3'UTR|PCCB_ENST00000462637.1_Silent_p.V349V|PCCB_ENST00000251654.4_Silent_p.V372V|PCCB_ENST00000469217.1_Silent_p.V392V|PCCB_ENST00000490504.1_Silent_p.V315V P05166 PCCB_HUMAN propionyl CoA carboxylase, beta polypeptide 372 Carboxyltransferase. fatty acid beta-oxidation mitochondrial matrix ATP binding|propionyl-CoA carboxylase activity p.V372V(1) breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|urinary_tract(1) 25 Biotin(DB00121)|L-Valine(DB00161) ATTCATCTGTGAAAGGGGCTC 0.408000 44 208 0 0 0.117977 0 0 NEMF 9147 broad.mit.edu 37 14 50255908 50255908 + Missense_Mutation SNP G G A TCGA-DK-A1AB-01A-11D-A13W-08 TCGA-DK-A1AB-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f0fb2ba-0351-4ce0-8b74-31aa3deecae1 6bb1a3eb-1659-4df1-935d-f8b2d710ace4 g.chr14:50255908G>A ENST00000298310.5 - 28 3300 c.2851C>T c.(2851-2853)Cat>Tat p.H951Y NEMF_ENST00000545773.1_Missense_Mutation_p.H909Y|NEMF_ENST00000382135.2_Missense_Mutation_p.H151Y|NEMF_ENST00000556925.1_5'UTR|NEMF_ENST00000546046.1_Missense_Mutation_p.H930Y O60524 NEMF_HUMAN nuclear export mediator factor 951 cytoplasm|nucleus p.H951Y(1) breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(13)|liver(1)|lung(9)|prostate(1)|skin(1)|urinary_tract(1) 36 TGTAACTCATGAGTTATAACC 0.443000 53 169 0 0 0.139131 0 0 INO80D 54891 broad.mit.edu 37 2 206884568 206884568 + Splice_Site SNP T T A TCGA-DK-A1AB-01A-11D-A13W-08 TCGA-DK-A1AB-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f0fb2ba-0351-4ce0-8b74-31aa3deecae1 6bb1a3eb-1659-4df1-935d-f8b2d710ace4 g.chr2:206884568T>A ENST00000403263.1 - 7 1704 c.1300A>T c.(1300-1302)Ata>Tta p.I434L NM_017759.4 NP_060229.3 Q53TQ3 IN80D_HUMAN INO80 complex subunit D 434 DNA recombination|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus p.I434L(1)|p.I329L(1) NS(1)|cervix(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(9)|ovary(2)|prostate(1)|urinary_tract(2) 26 GTCCGGCTTATGCTAAGGAAA 0.418000 7 36 0 0 0.029380 0 0 TTN 7273 broad.mit.edu 37 2 179605584 179605584 + Missense_Mutation SNP C C T TCGA-DK-A1AB-01A-11D-A13W-08 TCGA-DK-A1AB-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f0fb2ba-0351-4ce0-8b74-31aa3deecae1 6bb1a3eb-1659-4df1-935d-f8b2d710ace4 g.chr2:179605584C>T ENST00000589042.1 - 48 12600 c.12376G>A c.(12376-12378)Gaa>Aaa p.E4126K TTN_ENST00000591111.1_Missense_Mutation_p.E3809K|TTN_ENST00000359218.5_Missense_Mutation_p.E3888K|TTN_ENST00000460472.2_Missense_Mutation_p.E3763K|TTN_ENST00000342175.6_Missense_Mutation_p.E3955K|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN-AS1_ENST00000582847.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 3809 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity p.E3888K(1) NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) CTGGTGCTTTCAGGAGTGAGC 0.448000 38 146 0 0 0.086207 0 0 CUL9 23113 broad.mit.edu 37 6 43156401 43156401 + Missense_Mutation SNP G G C TCGA-DK-A1AB-01A-11D-A13W-08 TCGA-DK-A1AB-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f0fb2ba-0351-4ce0-8b74-31aa3deecae1 6bb1a3eb-1659-4df1-935d-f8b2d710ace4 g.chr6:43156401G>C ENST00000252050.4 + 8 2212 c.2128G>C c.(2128-2130)Gag>Cag p.E710Q CUL9_ENST00000372647.2_Missense_Mutation_p.E710Q|CUL9_ENST00000354495.3_Missense_Mutation_p.E600Q NM_015089.2 NP_055904.1 Q8IWT3 CUL9_HUMAN cullin 9 710 ubiquitin-dependent protein catabolic process cullin-RING ubiquitin ligase complex|cytoplasm ATP binding|ubiquitin protein ligase binding|zinc ion binding p.E710Q(1) breast(3)|central_nervous_system(1)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|liver(1)|lung(30)|ovary(5)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(4) 92 TCAGGCTGTGGAGGAGGTCAC 0.577000 15 22 0 0 0.119110 0 0 OR2F2 135948 broad.mit.edu 37 7 143633147 143633147 + Missense_Mutation SNP C C G TCGA-DK-A1AB-01A-11D-A13W-08 TCGA-DK-A1AB-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f0fb2ba-0351-4ce0-8b74-31aa3deecae1 6bb1a3eb-1659-4df1-935d-f8b2d710ace4 g.chr7:143633147C>G ENST00000408955.2 + 1 889 c.822C>G c.(820-822)atC>atG p.I274M NM_001004685.1 NP_001004685.1 O95006 OR2F2_HUMAN olfactory receptor, family 2, subfamily F, member 2 274 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.I274M(1) endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(19)|ovary(3)|skin(2)|stomach(1)|urinary_tract(1) 32 Melanoma(164;0.0903) AGAAGCTGATCTCTGTCTTCT 0.483000 23 78 0 0 0.083992 0 0 ZNF418 147686 broad.mit.edu 37 19 58438051 58438051 + Missense_Mutation SNP G G A TCGA-DK-A1AB-01A-11D-A13W-08 TCGA-DK-A1AB-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f0fb2ba-0351-4ce0-8b74-31aa3deecae1 6bb1a3eb-1659-4df1-935d-f8b2d710ace4 g.chr19:58438051G>A ENST00000396147.1 - 4 1789 c.1498C>T c.(1498-1500)Cat>Tat p.H500Y ZNF418_ENST00000425570.3_Missense_Mutation_p.H521Y|ZNF418_ENST00000600989.1_Intron|ZNF418_ENST00000595830.1_Missense_Mutation_p.H500Y|ZNF418_ENST00000599852.1_Missense_Mutation_p.H415Y NM_133460.1 NP_597717.1 Q8TF45 ZN418_HUMAN zinc finger protein 418 500 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.H500Y(1) cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(3) 31 Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0158) ACTCTCTGATGAACACGAAAC 0.448000 150 94 0 0 0.139131 0 0 PDCD2L 84306 broad.mit.edu 37 19 34900411 34900411 + Missense_Mutation SNP C C A TCGA-DK-A1AB-01A-11D-A13W-08 TCGA-DK-A1AB-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f0fb2ba-0351-4ce0-8b74-31aa3deecae1 6bb1a3eb-1659-4df1-935d-f8b2d710ace4 g.chr19:34900411C>A ENST00000246535.3 + 4 729 c.682C>A c.(682-684)Caa>Aaa p.Q228K PDCD2L_ENST00000587065.2_Intron NM_032346.1 NP_115722.1 Q9BRP1 PDD2L_HUMAN programmed cell death 2-like 228 cytoplasm p.Q228K(1) breast(2)|kidney(1)|large_intestine(4)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 11 Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.211) GTTGCTTTCCCAAAGGTGAGG 0.507000 4 44 0.00909568 0.00968956 0.009096 1 0 HAUS6 54801 broad.mit.edu 37 9 19082988 19082988 + Missense_Mutation SNP C C G rs146901356 TCGA-DK-A1AB-01A-11D-A13W-08 TCGA-DK-A1AB-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f0fb2ba-0351-4ce0-8b74-31aa3deecae1 6bb1a3eb-1659-4df1-935d-f8b2d710ace4 g.chr9:19082988C>G ENST00000380502.3 - 8 1220 c.753G>C c.(751-753)gaG>gaC p.E251D HAUS6_ENST00000380496.1_Missense_Mutation_p.E115D NM_001270890.1|NM_017645.4 NP_001257819.1|NP_060115.3 Q7Z4H7 HAUS6_HUMAN HAUS augmin-like complex, subunit 6 251 cell division|centrosome organization|mitosis|spindle assembly centrosome|HAUS complex|microtubule|nucleus|spindle p.E251D(1) autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 CAACTTCTCTCTCTTTTTCCA 0.353000 19 36 0 0 0.049695 0 0 ANKRD35 148741 broad.mit.edu 37 1 145558885 145558885 + Missense_Mutation SNP C C G TCGA-DK-A1AB-01A-11D-A13W-08 TCGA-DK-A1AB-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f0fb2ba-0351-4ce0-8b74-31aa3deecae1 6bb1a3eb-1659-4df1-935d-f8b2d710ace4 g.chr1:145558885C>G ENST00000355594.4 + 7 591 c.504C>G c.(502-504)atC>atG p.I168M ANKRD35_ENST00000544626.1_3'UTR NM_144698.3 NP_653299.4 Q8N283 ANR35_HUMAN ankyrin repeat domain 35 168 p.I168M(1) NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(9)|lung(16)|ovary(4)|prostate(3)|skin(2)|urinary_tract(1) 47 all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786) ACGCAGCTATCTGCTCACAGC 0.572000 26 90 0 0 0.091800 0 0 CAND2 23066 broad.mit.edu 37 3 12858016 12858016 + Missense_Mutation SNP T T A TCGA-DK-A1AB-01A-11D-A13W-08 TCGA-DK-A1AB-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f0fb2ba-0351-4ce0-8b74-31aa3deecae1 6bb1a3eb-1659-4df1-935d-f8b2d710ace4 g.chr3:12858016T>A ENST00000456430.2 + 10 1626 c.1585T>A c.(1585-1587)Tgt>Agt p.C529S CAND2_ENST00000295989.5_Missense_Mutation_p.C436S NM_001162499.1 NP_001155971.1 O75155 CAND2_HUMAN cullin-associated and neddylation-dissociated 2 (putative) 529 positive regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding p.C436S(1)|p.C529S(1) breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(8)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 37 TGTGATGGCCTGTGTGGCTGA 0.647000 3 37 0 0 0.115264 0 0 CD97 976 broad.mit.edu 37 19 14516631 14516631 + Silent SNP C C T TCGA-DK-A1AB-01A-11D-A13W-08 TCGA-DK-A1AB-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f0fb2ba-0351-4ce0-8b74-31aa3deecae1 6bb1a3eb-1659-4df1-935d-f8b2d710ace4 g.chr19:14516631C>T ENST00000242786.5 + 14 1781 c.1701C>T c.(1699-1701)ctC>ctT p.L567L CD97_ENST00000357355.3_Silent_p.L518L|CTC-548K16.5_ENST00000590626.1_RNA|CD97_ENST00000358600.3_Silent_p.L474L NM_078481.3 NP_510966.1 P48960 CD97_HUMAN CD97 molecule 567 cell adhesion|cell-cell signaling|cellular component movement|immune response|inflammatory response|neuropeptide signaling pathway extracellular space|integral to plasma membrane calcium ion binding|G-protein coupled receptor activity|protein binding p.L567L(1) breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 30 TGTGCATCCTCACTTTCCTGC 0.632000 23 79 0 0 0.116897 0 0 VIM 7431 broad.mit.edu 37 10 17277345 17277345 + Missense_Mutation SNP G G C TCGA-DK-A1AB-01A-11D-A13W-08 TCGA-DK-A1AB-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f0fb2ba-0351-4ce0-8b74-31aa3deecae1 6bb1a3eb-1659-4df1-935d-f8b2d710ace4 g.chr10:17277345G>C ENST00000544301.1 + 7 1599 c.1186G>C c.(1186-1188)Gag>Cag p.E396Q VIM_ENST00000224237.5_Missense_Mutation_p.E396Q NM_003380.3 NP_003371.2 P08670 VIME_HUMAN vimentin 396 Coil 2.|Rod. cellular component disassembly involved in apoptosis|cellular component movement|interspecies interaction between organisms|muscle filament sliding cytosol|intermediate filament protein C-terminus binding|structural constituent of cytoskeleton p.E396Q(1) NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(2)|lung(18)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 38 CCTTGACATTGAGATTGCCAC 0.507000 14 56 0 0 0.119110 0 0 ABCA1 19 broad.mit.edu 37 9 107547853 107547853 + Missense_Mutation SNP C C G TCGA-DK-A1AB-01A-11D-A13W-08 TCGA-DK-A1AB-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f0fb2ba-0351-4ce0-8b74-31aa3deecae1 6bb1a3eb-1659-4df1-935d-f8b2d710ace4 g.chr9:107547853C>G ENST00000374736.3 - 49 6863 c.6469G>C c.(6469-6471)Gat>Cat p.D2157H NM_005502.3 NP_005493.2 O95477 ABCA1_HUMAN ATP-binding cassette, sub-family A (ABC1), member 1 2157 Cdc42 protein signal transduction|cellular lipid metabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|endosome transport|G-protein coupled receptor protein signaling pathway|high-density lipoprotein particle assembly|interleukin-1 beta secretion|intracellular cholesterol transport|lysosome organization|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|platelet dense granule organization|positive regulation of cAMP biosynthetic process|reverse cholesterol transport integral to plasma membrane|membrane fraction|membrane raft|phagocytic vesicle anion transmembrane transporter activity|apolipoprotein A-I receptor activity|ATP binding|ATPase activity|cholesterol transporter activity|phospholipid transporter activity|small GTPase binding|syntaxin-13 binding p.D2157H(1) NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(31)|liver(1)|lung(40)|ovary(5)|pancreas(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 115 OV - Ovarian serous cystadenocarcinoma(323;0.023) Adenosine triphosphate(DB00171)|Glibenclamide(DB01016) CCAAAGAAATCCTGGACAGGC 0.438000 33 79 0 0 0.059317 0 0 MASTL 84930 broad.mit.edu 37 10 27459817 27459817 + Silent SNP G G A TCGA-DK-A1AB-01A-11D-A13W-08 TCGA-DK-A1AB-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f0fb2ba-0351-4ce0-8b74-31aa3deecae1 6bb1a3eb-1659-4df1-935d-f8b2d710ace4 g.chr10:27459817G>A ENST00000375946.4 + 8 2532 c.1929G>A c.(1927-1929)ctG>ctA p.L643L MASTL_ENST00000477034.1_3'UTR|MASTL_ENST00000375940.4_Silent_p.L643L|MASTL_ENST00000342386.6_Silent_p.L643L NM_001172303.1|NM_032844.3 NP_001165774.1|NP_116233.2 Q96GX5 GWL_HUMAN microtubule associated serine/threonine kinase-like 643 Protein kinase. cell division|G2/M transition of mitotic cell cycle|mitosis|negative regulation of protein phosphatase type 2A activity|regulation of cell cycle|response to DNA damage stimulus centrosome|cleavage furrow|nucleus ATP binding|protein phosphatase 2A binding|protein serine/threonine kinase activity p.L643L(1) breast(3)|cervix(2)|endometrium(2)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 TGGAGGTGCTGAAAACGTTAG 0.398000 28 84 0 0 0.108266 0 0 MED24 9862 broad.mit.edu 37 17 38187864 38187864 + Missense_Mutation SNP C C G TCGA-DK-A1AB-01A-11D-A13W-08 TCGA-DK-A1AB-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f0fb2ba-0351-4ce0-8b74-31aa3deecae1 6bb1a3eb-1659-4df1-935d-f8b2d710ace4 g.chr17:38187864C>G ENST00000394126.1 - 10 1487 c.1069G>C c.(1069-1071)Gag>Cag p.E357Q MED24_ENST00000394127.2_Missense_Mutation_p.E319Q|MED24_ENST00000501516.3_Missense_Mutation_p.E351Q|MED24_ENST00000356271.3_Missense_Mutation_p.E319Q|MED24_ENST00000394128.2_Missense_Mutation_p.E332Q O75448 MED24_HUMAN mediator complex subunit 24 332 androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|transcription initiation from RNA polymerase II promoter mediator complex ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding p.E332Q(1) autonomic_ganglia(1)|breast(2)|endometrium(9)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1) 41 Colorectal(19;0.000442) TTGACATCCTCAGTGAAGTCC 0.567000 17 69 0 0 0.038395 0 0 LOC403323 403323 broad.mit.edu 37 9 66545695 66545695 + RNA DEL A A - TCGA-DK-A1AB-01A-11D-A13W-08 TCGA-DK-A1AB-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f0fb2ba-0351-4ce0-8b74-31aa3deecae1 6bb1a3eb-1659-4df1-935d-f8b2d710ace4 g.chr9:66545695delA ENST00000445604.2 - 0 669 CTGTAAGAGGAAAAAAAAACA 0.373 2 4 --- --- --- --- DAOA-AS1 282706 broad.mit.edu 37 13 106148132 106148132 + RNA DEL T T - TCGA-DK-A1AB-01A-11D-A13W-08 TCGA-DK-A1AB-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f0fb2ba-0351-4ce0-8b74-31aa3deecae1 6bb1a3eb-1659-4df1-935d-f8b2d710ace4 g.chr13:106148132delT ENST00000448407.1 - 0 100 NR_040247.1 ccttccttcctttcttccttc 0.358 4 3 --- --- --- --- PKD1L2 114780 broad.mit.edu 37 16 81253526 81253527 + RNA INS - - TTATT rs140827348 by1000genomes TCGA-DK-A1AB-01A-11D-A13W-08 TCGA-DK-A1AB-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f0fb2ba-0351-4ce0-8b74-31aa3deecae1 6bb1a3eb-1659-4df1-935d-f8b2d710ace4 g.chr16:81253526_81253527insTTATT ENST00000337114.4 - 0 301 PKD1L2_ENST00000525539.1_RNA NM_001076780.1 NP_001070248.1 Q7Z442 PK1L2_HUMAN polycystic kidney disease 1-like 2 neuropeptide signaling pathway integral to membrane calcium ion binding|ion channel activity|sugar binding breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 44 ttagacatgaattatttaatcc 0.391 4 4 --- --- --- --- ROCK1P1 727758 broad.mit.edu 37 18 111052 111052 + RNA DEL C C - TCGA-DK-A1AB-01A-11D-A13W-08 TCGA-DK-A1AB-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f0fb2ba-0351-4ce0-8b74-31aa3deecae1 6bb1a3eb-1659-4df1-935d-f8b2d710ace4 g.chr18:111052delC ENST00000608049.1 + 0 389 NR_033770.1 ctaggttcagcctacaggagc 0.488 2 4 --- --- --- ---