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 KCNC4 3749 broad.mit.edu 37 1 110754401 110754403 + In_Frame_Del DEL TTC - - TCGA-14-1034-02B-01D-2280-08 TCGA-14-1034-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx 7cae6c0b-36fe-411b-bbba-093a4c846d84 bfb563cb-42cd-417a-8e69-96c23c514170 g.chr1:110754401_110754403delTTC uc001dzh.2 + 1 337_339 c.280_282delTTC c.(280-282)TTCdel p.F96del KCNC4_uc001dzf.2_In_Frame_Del_p.F96del|KCNC4_uc009wfr.2_In_Frame_Del_p.F96del|KCNC4_uc001dzg.2_In_Frame_Del_p.F96del|KCNC4_uc001dzi.2_RNA NM_004978 NP_004969 Q03721 KCNC4_HUMAN Shaw-related voltage-gated potassium channel 96 Cytoplasmic (Potential). synaptic transmission voltage-gated potassium channel complex voltage-gated potassium channel activity large_intestine(1)|ovary(1)|central_nervous_system(1) 3 all_cancers(81;9.88e-06)|all_epithelial(167;3.23e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233) Lung(183;0.0238)|all cancers(265;0.0693)|Epithelial(280;0.0748)|Colorectal(144;0.112)|LUSC - Lung squamous cell carcinoma(189;0.135) gggctgcgAGTTCTTCTTCGACA 0.537 TDRD10 126668 broad.mit.edu 37 1 154516509 154516509 + Missense_Mutation SNP G A A rs143192137 byFrequency TCGA-14-1034-02B-01D-2280-08 TCGA-14-1034-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx 7cae6c0b-36fe-411b-bbba-093a4c846d84 bfb563cb-42cd-417a-8e69-96c23c514170 g.chr1:154516509G>A uc009wow.2 + 9 1412 c.574G>A c.(574-576)GTC>ATC p.V192I TDRD10_uc001ffd.2_Missense_Mutation_p.V192I|TDRD10_uc001ffe.2_Missense_Mutation_p.V113I NM_001098475 NP_001091945 Q5VZ19 TDR10_HUMAN tudor domain containing 10 isoform a 192 nucleotide binding|RNA binding ovary(1) 1 all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088) LUSC - Lung squamous cell carcinoma(543;0.185) CATCCATAGCGTCCGTGGGGA 0.612 CACNA1S 779 broad.mit.edu 37 1 201009210 201009210 + Missense_Mutation SNP C T T TCGA-14-1034-02B-01D-2280-08 TCGA-14-1034-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx 7cae6c0b-36fe-411b-bbba-093a4c846d84 bfb563cb-42cd-417a-8e69-96c23c514170 g.chr1:201009210C>T uc001gvv.2 - 44 5598 c.5371G>A c.(5371-5373)GCT>ACT p.A1791T NM_000069 NP_000060 Q13698 CAC1S_HUMAN calcium channel, voltage-dependent, L type, 1791 Cytoplasmic (Potential). axon guidance I band|T-tubule|voltage-gated calcium channel complex high voltage-gated calcium channel activity ovary(3)|central_nervous_system(1)|skin(1) 5 Magnesium Sulfate(DB00653)|Verapamil(DB00661) CGAACCAGAGCCTGCAGGGAG 0.617 EDARADD 128178 broad.mit.edu 37 1 236590728 236590728 + Missense_Mutation SNP G A A TCGA-14-1034-02B-01D-2280-08 TCGA-14-1034-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx 7cae6c0b-36fe-411b-bbba-093a4c846d84 bfb563cb-42cd-417a-8e69-96c23c514170 g.chr1:236590728G>A uc001hxu.1 + 4 262 c.197G>A c.(196-198)CGA>CAA p.R66Q EDARADD_uc001hxv.1_Missense_Mutation_p.R56Q NM_145861 NP_665860 Q8WWZ3 EDAD_HUMAN EDAR-associated death domain isoform A 66 cell differentiation|signal transduction cytoplasm 0 Ovarian(103;0.0634)|Breast(184;0.247) all_cancers(173;0.0232)|Prostate(94;0.174) OV - Ovarian serous cystadenocarcinoma(106;0.00117) AACTGCCCACGAAATTCAGAT 0.249 PTEN 5728 broad.mit.edu 37 10 89692841 89692841 + Missense_Mutation SNP G A A TCGA-14-1034-02B-01D-2280-08 TCGA-14-1034-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx 7cae6c0b-36fe-411b-bbba-093a4c846d84 bfb563cb-42cd-417a-8e69-96c23c514170 g.chr10:89692841G>A uc001kfb.2 + 6 1356 c.325G>A c.(325-327)GAC>AAC p.D109N NM_000314 NP_000305 P60484 PTEN_HUMAN phosphatase and tensin homolog 109 Phosphatase tensin-type. activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway cytosol|internal side of plasma membrane|PML body anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity p.R55fs*1(4)|p.Y27_N212>Y(2)|p.?(2)|p.Y27fs*1(2)|p.L108_D109del(2)|p.D109fs*6(1)|p.F56fs*2(1) endometrium(831)|central_nervous_system(657)|skin(121)|haematopoietic_and_lymphoid_tissue(101)|large_intestine(99)|prostate(97)|breast(73)|lung(65)|ovary(58)|thyroid(29)|stomach(29)|upper_aerodigestive_tract(25)|cervix(24)|liver(20)|vulva(17)|kidney(15)|NS(14)|soft_tissue(13)|urinary_tract(12)|eye(8)|pancreas(6)|salivary_gland(5)|bone(5)|biliary_tract(4)|autonomic_ganglia(2)|meninges(2)|testis(1)|oesophagus(1) 2334 all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132) KIRC - Kidney renal clear cell carcinoma(1;0.214) UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218) TGAAGATCTTGACCAATGGCT 0.383 31 D|Mis|N|F|S glioma| prostate|endometrial harmartoma|glioma| prostate|endometrial Proteus_syndrome|Cowden_syndrome|Juvenile_Polyposis|Hereditary_Mixed_Polyposis_Syndrome_type_1|Bannayan-Riley-Ruvalcaba_syndrome HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18) RPL13AP6 644511 broad.mit.edu 37 10 112696659 112696659 + Silent SNP A G G TCGA-14-1034-02B-01D-2280-08 TCGA-14-1034-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx 7cae6c0b-36fe-411b-bbba-093a4c846d84 bfb563cb-42cd-417a-8e69-96c23c514170 g.chr10:112696659A>G uc010qrh.1 - 1 355 c.333T>C c.(331-333)CCT>CCC p.P111P SHOC2_uc001kzl.3_Intron|SHOC2_uc009xxx.2_Intron|SHOC2_uc010qrg.1_Intron NR_026715 SubName: Full=cDNA FLJ51256, highly similar to 60S ribosomal protein L13a; 0 TCTTGTCGTAAGGCGGTGGGA 0.577 SCGB1C1 147199 broad.mit.edu 37 11 193135 193135 + Silent SNP C T T TCGA-14-1034-02B-01D-2280-08 TCGA-14-1034-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx 7cae6c0b-36fe-411b-bbba-093a4c846d84 bfb563cb-42cd-417a-8e69-96c23c514170 g.chr11:193135C>T uc001loa.1 + 1 56 c.36C>T c.(34-36)CTC>CTT p.L12L NM_145651 NP_663626 Q8TD33 SG1C1_HUMAN secretoglobin, family 1C, member 1 precursor 12 extracellular region binding skin(1) 1 all_cancers(49;1.58e-09)|all_epithelial(84;2.71e-06)|Breast(177;0.000162)|Ovarian(85;0.000626)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713) all cancers(45;3.95e-27)|Epithelial(43;2.66e-26)|OV - Ovarian serous cystadenocarcinoma(40;5.55e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.105)|LUSC - Lung squamous cell carcinoma(625;0.122) TGGTGGCCCTCACCCTGTTCT 0.612 Unknown 0 broad.mit.edu 37 11 31086167 31086167 + Missense_Mutation SNP G T T TCGA-14-1034-02B-01D-2280-08 TCGA-14-1034-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx 7cae6c0b-36fe-411b-bbba-093a4c846d84 bfb563cb-42cd-417a-8e69-96c23c514170 g.chr11:31086167G>T uc009yjk.1 - 8 853 c.784C>A c.(784-786)CAA>AAA p.Q262K uc009yjl.1_Missense_Mutation_p.Q190K|DCDC1_uc001msu.1_Missense_Mutation_p.Q433K RecName: Full=Doublecortin domain-containing protein 5; GCACTTTCTTGCAGAACCTAA 0.398 CKAP5 9793 broad.mit.edu 37 11 46792527 46792527 + Silent SNP C T T TCGA-14-1034-02B-01D-2280-08 TCGA-14-1034-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx 7cae6c0b-36fe-411b-bbba-093a4c846d84 bfb563cb-42cd-417a-8e69-96c23c514170 g.chr11:46792527C>T uc001ndi.1 - 25 3107 c.2997G>A c.(2995-2997)CTG>CTA p.L999L CKAP5_uc009ylg.1_Silent_p.L885L|CKAP5_uc001ndj.1_Silent_p.L999L|CKAP5_uc001ndh.1_5'Flank NM_001008938 NP_001008938 Q14008 CKAP5_HUMAN colonic and hepatic tumor over-expressed protein 999 cell division|centrosome organization|establishment or maintenance of microtubule cytoskeleton polarity|G2/M transition of mitotic cell cycle|mitotic prometaphase|RNA transport|spindle organization centrosome|cytosol protein binding|protein binding ovary(1)|skin(1) 2 CCAGCCAGCCCAGAAGCTGCC 0.428 NOX4 50507 broad.mit.edu 37 11 89073317 89073317 + Missense_Mutation SNP G A A TCGA-14-1034-02B-01D-2280-08 TCGA-14-1034-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx 7cae6c0b-36fe-411b-bbba-093a4c846d84 bfb563cb-42cd-417a-8e69-96c23c514170 g.chr11:89073317G>A uc001pct.2 - 15 1599 c.1360C>T c.(1360-1362)CTT>TTT p.L454F NOX4_uc009yvr.2_Missense_Mutation_p.L429F|NOX4_uc001pcu.2_Missense_Mutation_p.L380F|NOX4_uc001pcw.2_Missense_Mutation_p.L147F|NOX4_uc001pcx.2_Missense_Mutation_p.L107F|NOX4_uc001pcv.2_Missense_Mutation_p.L414F|NOX4_uc009yvo.2_RNA|NOX4_uc010rtu.1_Missense_Mutation_p.L288F|NOX4_uc009yvp.2_Missense_Mutation_p.L218F|NOX4_uc010rtv.1_Missense_Mutation_p.L390F|NOX4_uc009yvq.2_Missense_Mutation_p.L430F NM_016931 NP_058627 Q9NPH5 NOX4_HUMAN NADPH oxidase 4 isoform a 454 Cytoplasmic (Potential).|Mediates interaction with TLR4. cell aging|cell morphogenesis|inflammatory response|negative regulation of cell proliferation|superoxide anion generation endoplasmic reticulum membrane|focal adhesion|integral to membrane|nucleus electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|nucleotide binding|oxygen sensor activity ovary(1)|central_nervous_system(1) 2 Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.011) AGTCTTCTAAGCTTGTATGGT 0.323 PPP2R1B 5519 broad.mit.edu 37 11 111613292 111613292 + Missense_Mutation SNP T C C TCGA-14-1034-02B-01D-2280-08 TCGA-14-1034-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx 7cae6c0b-36fe-411b-bbba-093a4c846d84 bfb563cb-42cd-417a-8e69-96c23c514170 g.chr11:111613292T>C uc001plx.1 - 13 1736 c.1652A>G c.(1651-1653)AAT>AGT p.N551S PPP2R1B_uc001plw.1_Missense_Mutation_p.N551S|PPP2R1B_uc010rwi.1_Missense_Mutation_p.N487S|PPP2R1B_uc010rwj.1_Missense_Mutation_p.N390S|PPP2R1B_uc010rwk.1_Missense_Mutation_p.N506S|PPP2R1B_uc010rwl.1_Missense_Mutation_p.N424S NM_002716 NP_002707 P30154 2AAB_HUMAN beta isoform of regulatory subunit A, protein 551 HEAT 14. protein binding 0 all_cancers(61;2.34e-15)|all_epithelial(67;1.72e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425) BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|Epithelial(105;2.36e-06)|all cancers(92;3.78e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0761) TTTGGCCACATTGAAGCGAAC 0.368 GALNT8 26290 broad.mit.edu 37 12 4854615 4854615 + Missense_Mutation SNP G A A TCGA-14-1034-02B-01D-2280-08 TCGA-14-1034-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx 7cae6c0b-36fe-411b-bbba-093a4c846d84 bfb563cb-42cd-417a-8e69-96c23c514170 g.chr12:4854615G>A uc001qne.1 + 5 973 c.881G>A c.(880-882)CGG>CAG p.R294Q NM_017417 NP_059113 Q9NY28 GALT8_HUMAN polypeptide N-acetylgalactosaminyltransferase 8 294 Lumenal (Potential).|Catalytic subdomain A. Golgi membrane|integral to membrane polypeptide N-acetylgalactosaminyltransferase activity|sugar binding ovary(2)|pancreas(1)|skin(1) 4 ATCTTGGCTCGGATTCAGGAG 0.478 CD163 9332 broad.mit.edu 37 12 7639557 7639557 + Silent SNP C T T TCGA-14-1034-02B-01D-2280-08 TCGA-14-1034-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx 7cae6c0b-36fe-411b-bbba-093a4c846d84 bfb563cb-42cd-417a-8e69-96c23c514170 g.chr12:7639557C>T uc001qsz.3 - 9 2204 c.2076G>A c.(2074-2076)TCG>TCA p.S692S CD163_uc001qta.3_Silent_p.S692S|CD163_uc009zfw.2_Silent_p.S725S NM_004244 NP_004235 Q86VB7 C163A_HUMAN CD163 antigen isoform a 692 Extracellular (Potential). acute-phase response extracellular region|integral to plasma membrane protein binding|scavenger receptor activity ovary(6)|pancreas(1)|skin(1) 8 ATGAATTGCACGAGGACAGTG 0.438 SRGAP1 57522 broad.mit.edu 37 12 64509616 64509616 + Missense_Mutation SNP G A A TCGA-14-1034-02B-01D-2280-08 TCGA-14-1034-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx 7cae6c0b-36fe-411b-bbba-093a4c846d84 bfb563cb-42cd-417a-8e69-96c23c514170 g.chr12:64509616G>A uc010ssp.1 + 18 2223 c.2167G>A c.(2167-2169)GGT>AGT p.G723S SRGAP1_uc001srv.2_Missense_Mutation_p.G660S NM_020762 NP_065813 Q7Z6B7 SRGP1_HUMAN SLIT-ROBO Rho GTPase activating protein 1 723 axon guidance cytosol ovary(2)|central_nervous_system(2) 4 GBM - Glioblastoma multiforme(3;0.000139)|BRCA - Breast invasive adenocarcinoma(9;0.225) GBM - Glioblastoma multiforme(28;0.0608) CAGTGAGCACGGTACATTGGA 0.343 ATP7B 540 broad.mit.edu 37 13 52516659 52516659 + Missense_Mutation SNP G A A TCGA-14-1034-02B-01D-2280-08 TCGA-14-1034-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx 7cae6c0b-36fe-411b-bbba-093a4c846d84 bfb563cb-42cd-417a-8e69-96c23c514170 g.chr13:52516659G>A uc001vfw.2 - 15 3432 c.3275C>T c.(3274-3276)ACG>ATG p.T1092M ATP7B_uc010adv.2_Missense_Mutation_p.T662M|ATP7B_uc001vfx.2_Missense_Mutation_p.T885M|ATP7B_uc001vfy.2_Missense_Mutation_p.T981M|ATP7B_uc010tgt.1_Missense_Mutation_p.T1027M|ATP7B_uc010tgu.1_Missense_Mutation_p.T1044M|ATP7B_uc010tgv.1_Missense_Mutation_p.T1014M|ATP7B_uc001vfv.2_Missense_Mutation_p.T364M|ATP7B_uc010tgs.1_Missense_Mutation_p.T303M NM_000053 NP_000044 P35670 ATP7B_HUMAN ATPase, Cu++ transporting, beta polypeptide 1092 Cytoplasmic (Potential). ATP biosynthetic process|cellular copper ion homeostasis|copper ion import|response to copper ion|sequestering of calcium ion Golgi membrane|integral to plasma membrane|late endosome|mitochondrion ATP binding|copper ion binding|copper-exporting ATPase activity|protein binding ovary(1)|central_nervous_system(1)|skin(1) 3 Breast(56;0.000207)|Lung NSC(96;0.000845)|Prostate(109;0.0235)|Hepatocellular(98;0.065)|all_neural(104;0.19) GBM - Glioblastoma multiforme(99;5.25e-08) CTGGAAGTCCGTGCAGTATCC 0.572 Wilson_disease LMO7 4008 broad.mit.edu 37 13 76381854 76381854 + Nonsense_Mutation SNP C T T TCGA-14-1034-02B-01D-2280-08 TCGA-14-1034-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx 7cae6c0b-36fe-411b-bbba-093a4c846d84 bfb563cb-42cd-417a-8e69-96c23c514170 g.chr13:76381854C>T uc001vjv.2 + 7 1496 c.736C>T c.(736-738)CGA>TGA p.R246* LMO7_uc010thv.1_Intron|LMO7_uc001vjt.1_Intron|LMO7_uc010thw.1_Intron|LMO7_uc001vjw.1_Nonsense_Mutation_p.R152* NM_015842 NP_056667 Q8WWI1 LMO7_HUMAN LIM domain only 7 isoform 2 531 cytoplasm|nucleus|ubiquitin ligase complex ubiquitin-protein ligase activity|zinc ion binding large_intestine(2)|ovary(1)|prostate(1)|skin(1) 5 Breast(118;0.0992) GBM - Glioblastoma multiforme(99;0.0109) ATATGTTCTCCGAGCTTTTGA 0.413 SLITRK6 84189 broad.mit.edu 37 13 86370546 86370546 + Missense_Mutation SNP G C C TCGA-14-1034-02B-01D-2280-08 TCGA-14-1034-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx 7cae6c0b-36fe-411b-bbba-093a4c846d84 bfb563cb-42cd-417a-8e69-96c23c514170 g.chr13:86370546G>C uc001vll.1 - 2 557 c.98C>G c.(97-99)TCT>TGT p.S33C SLITRK6_uc010afe.1_5'Flank NM_032229 NP_115605 Q9H5Y7 SLIK6_HUMAN slit and trk like 6 precursor 33 LRRNT 1.|Extracellular (Potential). integral to membrane large_intestine(1)|ovary(1)|central_nervous_system(1) 3 all_neural(89;0.117)|Medulloblastoma(90;0.163) GBM - Glioblastoma multiforme(99;0.0456) ATTGCAAAGAGAATCACAAGA 0.403 SYT16 83851 broad.mit.edu 37 14 62550997 62550997 + Silent SNP G A A TCGA-14-1034-02B-01D-2280-08 TCGA-14-1034-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx 7cae6c0b-36fe-411b-bbba-093a4c846d84 bfb563cb-42cd-417a-8e69-96c23c514170 g.chr14:62550997G>A uc001xfu.1 + 5 1715 c.1518G>A c.(1516-1518)GCG>GCA p.A506A SYT16_uc010tse.1_Silent_p.A64A NM_031914 NP_114120 Q17RD7 SYT16_HUMAN synaptotagmin XIV-like 506 central_nervous_system(1) 1 OV - Ovarian serous cystadenocarcinoma(108;0.0438)|BRCA - Breast invasive adenocarcinoma(234;0.118) ATGGAGGGGCGCCAGAGCTGT 0.552 AHNAK2 113146 broad.mit.edu 37 14 105409667 105409667 + Missense_Mutation SNP C T T TCGA-14-1034-02B-01D-2280-08 TCGA-14-1034-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx 7cae6c0b-36fe-411b-bbba-093a4c846d84 bfb563cb-42cd-417a-8e69-96c23c514170 g.chr14:105409667C>T uc010axc.1 - 7 12241 c.12121G>A c.(12121-12123)GTG>ATG p.V4041M AHNAK2_uc001ypx.2_Missense_Mutation_p.V3941M NM_138420 NP_612429 Q8IVF2 AHNK2_HUMAN AHNAK nucleoprotein 2 4041 nucleus ovary(1) 1 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) CCCTCGGGCACGGGGCCCTCT 0.627 TEKT5 146279 broad.mit.edu 37 16 10788509 10788509 + Silent SNP C T T TCGA-14-1034-02B-01D-2280-08 TCGA-14-1034-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx 7cae6c0b-36fe-411b-bbba-093a4c846d84 bfb563cb-42cd-417a-8e69-96c23c514170 g.chr16:10788509C>T uc002czz.1 - 1 294 c.222G>A c.(220-222)CCG>CCA p.P74P NM_144674 NP_653275 Q96M29 TEKT5_HUMAN tektin 5 74 microtubule cytoskeleton organization cilium axoneme|flagellar axoneme|microtubule ovary(2) 2 GGATGGTGGGCGGCCGCAGGG 0.642 TMCO7 79613 broad.mit.edu 37 16 68893945 68893945 + Missense_Mutation SNP C A A TCGA-14-1034-02B-01D-2280-08 TCGA-14-1034-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx 7cae6c0b-36fe-411b-bbba-093a4c846d84 bfb563cb-42cd-417a-8e69-96c23c514170 g.chr16:68893945C>A uc002ewi.3 + 2 265 c.253C>A c.(253-255)CAA>AAA p.Q85K TMCO7_uc002ewh.2_Missense_Mutation_p.Q85K NM_024562 NP_078838 Q9C0B7 TMCO7_HUMAN transmembrane and coiled-coil domains 7 85 integral to membrane binding 0 Ovarian(137;0.0568) OV - Ovarian serous cystadenocarcinoma(108;0.0446)|Epithelial(162;0.198) AGAATGGCCACAAAACTCTGT 0.428 PLCG2 5336 broad.mit.edu 37 16 81953214 81953214 + Missense_Mutation SNP G A A TCGA-14-1034-02B-01D-2280-08 TCGA-14-1034-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx 7cae6c0b-36fe-411b-bbba-093a4c846d84 bfb563cb-42cd-417a-8e69-96c23c514170 g.chr16:81953214G>A uc002fgt.2 + 20 2332 c.2180G>A c.(2179-2181)CGA>CAA p.R727Q PLCG2_uc010chg.1_Missense_Mutation_p.R727Q NM_002661 NP_002652 P16885 PLCG2_HUMAN phospholipase C, gamma 2 727 SH2 2. intracellular signal transduction|phospholipid catabolic process|platelet activation plasma membrane phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity large_intestine(4)|lung(2)|ovary(1)|skin(1) 8 TCACTCTACCGAAAGATGAGA 0.557 NECAB2 54550 broad.mit.edu 37 16 84035467 84035467 + Missense_Mutation SNP G A A TCGA-14-1034-02B-01D-2280-08 TCGA-14-1034-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx 7cae6c0b-36fe-411b-bbba-093a4c846d84 bfb563cb-42cd-417a-8e69-96c23c514170 g.chr16:84035467G>A uc002fhd.2 + 12 1095 c.1078G>A c.(1078-1080)GTC>ATC p.V360I NECAB2_uc002fhe.2_Missense_Mutation_p.V277I NM_019065 NP_061938 Q7Z6G3 NECA2_HUMAN neuronal calcium-binding protein 2 360 ABM. antibiotic biosynthetic process cytoplasm calcium ion binding|oxidoreductase activity|protein binding ovary(2) 2 GTTCCGGCACGTCAAGGTGGA 0.647 KIAA1609 57707 broad.mit.edu 37 16 84529371 84529371 + Missense_Mutation SNP C T T rs146039021 TCGA-14-1034-02B-01D-2280-08 TCGA-14-1034-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx 7cae6c0b-36fe-411b-bbba-093a4c846d84 bfb563cb-42cd-417a-8e69-96c23c514170 g.chr16:84529371C>T uc002fib.2 - 3 409 c.302G>A c.(301-303)GGA>GAA p.G101E KIAA1609_uc010vod.1_Missense_Mutation_p.G74E|KIAA1609_uc002fic.2_RNA NM_020947 NP_065998 Q6P9B6 K1609_HUMAN hypothetical protein LOC57707 101 protein binding ovary(2) 2 CTCGGAGTTTCCTTTCAACAG 0.542 GSG2 83903 broad.mit.edu 37 17 3628349 3628349 + Missense_Mutation SNP C T T TCGA-14-1034-02B-01D-2280-08 TCGA-14-1034-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx 7cae6c0b-36fe-411b-bbba-093a4c846d84 bfb563cb-42cd-417a-8e69-96c23c514170 g.chr17:3628349C>T uc002fwp.2 + 1 1153 c.1120C>T c.(1120-1122)CCT>TCT p.P374S ITGAE_uc002fwo.3_Intron|ITGAE_uc002fwn.3_5'Flank NM_031965 NP_114171 Q8TF76 HASP_HUMAN haspin 374 cell cycle|chromatin modification|intracellular protein kinase cascade nucleus ATP binding|protein serine/threonine kinase activity 0 GGACCTGACTCCTTTACAGAA 0.478 TP53 7157 broad.mit.edu 37 17 7579374 7579374 + Missense_Mutation SNP C G G TCGA-14-1034-02B-01D-2280-08 TCGA-14-1034-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx 7cae6c0b-36fe-411b-bbba-093a4c846d84 bfb563cb-42cd-417a-8e69-96c23c514170 g.chr17:7579374C>G uc002gim.2 - 4 507 c.313G>C c.(313-315)GGC>CGC p.G105R TP53_uc002gig.1_Missense_Mutation_p.G105R|TP53_uc002gih.2_Missense_Mutation_p.G105R|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_5'Flank|TP53_uc010cng.1_5'Flank|TP53_uc002gii.1_5'Flank|TP53_uc010cnh.1_Missense_Mutation_p.G105R|TP53_uc010cni.1_Missense_Mutation_p.G105R|TP53_uc002gij.2_Missense_Mutation_p.G105R|TP53_uc010cnj.1_5'Flank|TP53_uc002gin.2_Intron|TP53_uc002gio.2_Intron|TP53_uc010vug.1_Missense_Mutation_p.G66R|TP53_uc010cnk.1_Missense_Mutation_p.G120R NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 105 Interaction with HIPK1 (By similarity).||Interaction with WWOX. G -> D (in sporadic cancers; somatic mutation).|G -> S (in a sporadic cancer; somatic mutation).|G -> V (in sporadic cancers; somatic mutation).|G -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|G -> R (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|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|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 regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.0?(7)|p.G105C(5)|p.G105fs*18(3)|p.G59fs*23(3)|p.G105R(2)|p.V73fs*9(1)|p.G105_T125del21(1)|p.G105A(1)|p.G105S(1)|p.G105V(1)|p.W91fs*13(1)|p.Y103_G112>C(1)|p.P13fs*18(1)|p.S33fs*23(1)|p.G105G(1)|p.G105D(1)|p.Y103_L111>L(1)|p.Y103fs*15(1) large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1) 22245 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) CCGTAGCTGCCCTGGTAGGTT 0.627 111 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 Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_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) TOP3A 7156 broad.mit.edu 37 17 18210245 18210246 + Frame_Shift_Del DEL TC - - TCGA-14-1034-02B-01D-2280-08 TCGA-14-1034-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx 7cae6c0b-36fe-411b-bbba-093a4c846d84 bfb563cb-42cd-417a-8e69-96c23c514170 g.chr17:18210245_18210246delTC uc002gsx.1 - 4 578_579 c.349_350delGA c.(349-351)GAAfs p.E117fs TOP3A_uc002gsw.1_5'UTR|TOP3A_uc010vxs.1_Frame_Shift_Del_p.E15fs|TOP3A_uc010cqa.1_RNA NM_004618 NP_004609 Q13472 TOP3A_HUMAN topoisomerase (DNA) III alpha 117 Toprim. DNA topological change|meiosis chromosome|PML body ATP binding|DNA topoisomerase type I activity|protein binding|zinc ion binding skin(3) 3 CTTTTCAATTTCTGCTTCAAAG 0.426 NF1 4763 broad.mit.edu 37 17 29685497 29685497 + Splice_Site DEL G - - TCGA-14-1034-02B-01D-2280-08 TCGA-14-1034-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx 7cae6c0b-36fe-411b-bbba-093a4c846d84 bfb563cb-42cd-417a-8e69-96c23c514170 g.chr17:29685497delG uc002hgg.2 + 55 8304 c.7971_splice c.e55-1 p.V2657_splice NF1_uc002hgh.2_Splice_Site_p.V2636_splice|NF1_uc010cso.2_Splice_Site_p.V845_splice|NF1_uc010wbt.1_Splice_Site_p.V135_splice|NF1_uc010wbu.1_Splice_Site NM_001042492 NP_001035957 P21359 NF1_HUMAN neurofibromin isoform 1 actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus protein binding|Ras GTPase activator activity soft_tissue(159)|central_nervous_system(56)|lung(28)|large_intestine(27)|haematopoietic_and_lymphoid_tissue(18)|ovary(18)|autonomic_ganglia(12)|breast(3)|skin(3)|stomach(2)|thyroid(1)|prostate(1)|kidney(1)|pancreas(1) 330 all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659) UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146) TTTTCTTTTAGGCATAATTTG 0.333 D|Mis|N|F|S|O neurofibroma|glioma neurofibroma|glioma Neurofibromatosis_type_1 TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088) HNF1B 6928 broad.mit.edu 37 17 36065013 36065013 + Missense_Mutation SNP G A A TCGA-14-1034-02B-01D-2280-08 TCGA-14-1034-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx 7cae6c0b-36fe-411b-bbba-093a4c846d84 bfb563cb-42cd-417a-8e69-96c23c514170 g.chr17:36065013G>A uc002hok.3 - 6 1471 c.1250C>T c.(1249-1251)ACG>ATG p.T417M HNF1B_uc010wdi.1_Missense_Mutation_p.T391M NM_000458 NP_000449 P35680 HNF1B_HUMAN hepatocyte nuclear factor 1-beta isoform 1 417 endocrine pancreas development|genitalia development|kidney development|positive regulation of transcription initiation from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|pronephric nephron tubule development|regulation of pronephros size nucleus DNA binding|protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity ovary(3) 3 Breast(25;0.00765)|Ovarian(249;0.15) STAD - Stomach adenocarcinoma(1;0.0142) GTGGATATTCGTCAAGGTGCT 0.478 Hereditary_Prostate_Cancer KRT23 25984 broad.mit.edu 37 17 39087633 39087633 + Frame_Shift_Del DEL G - - TCGA-14-1034-02B-01D-2280-08 TCGA-14-1034-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx 7cae6c0b-36fe-411b-bbba-093a4c846d84 bfb563cb-42cd-417a-8e69-96c23c514170 g.chr17:39087633delG uc002hvm.1 - 3 1060 c.471delC c.(469-471)TTCfs p.F157fs KRT23_uc010wfl.1_Frame_Shift_Del_p.F20fs|KRT23_uc010cxf.1_5'UTR|KRT23_uc010cxg.2_Frame_Shift_Del_p.F157fs|KRT23_uc002hvn.1_Frame_Shift_Del_p.F157fs NM_015515 NP_056330 Q9C075 K1C23_HUMAN keratin 23 157 Rod.|Coil 1B. intermediate filament structural molecule activity ovary(1) 1 Breast(137;0.000301)|Ovarian(249;0.15) ACTTGAGGTTGAAGTCATCCA 0.338 EPX 8288 broad.mit.edu 37 17 56280591 56280591 + Missense_Mutation SNP G A A TCGA-14-1034-02B-01D-2280-08 TCGA-14-1034-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx 7cae6c0b-36fe-411b-bbba-093a4c846d84 bfb563cb-42cd-417a-8e69-96c23c514170 g.chr17:56280591G>A uc002ivq.2 + 11 1944 c.1858G>A c.(1858-1860)GCT>ACT p.A620T NM_000502 NP_000493 P11678 PERE_HUMAN eosinophil peroxidase preproprotein 620 hydrogen peroxide catabolic process heme binding|peroxidase activity|protein binding ovary(2) 2 TGGGGCCATCGCTGAGCCTCT 0.547 SETBP1 26040 broad.mit.edu 37 18 42643234 42643234 + Silent SNP C T T TCGA-14-1034-02B-01D-2280-08 TCGA-14-1034-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx 7cae6c0b-36fe-411b-bbba-093a4c846d84 bfb563cb-42cd-417a-8e69-96c23c514170 g.chr18:42643234C>T uc010dni.2 + 6 4658 c.4362C>T c.(4360-4362)CGC>CGT p.R1454R NM_015559 NP_056374 Q9Y6X0 SETBP_HUMAN SET binding protein 1 isoform a 1454 A.T hook 3. nucleus DNA binding upper_aerodigestive_tract(2)|large_intestine(1) 3 Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201) AGAAGAGGCGCGGGCGTCCCA 0.552 Schinzel-Giedion_syndrome ST8SIA3 51046 broad.mit.edu 37 18 55024414 55024414 + Silent SNP C T T TCGA-14-1034-02B-01D-2280-08 TCGA-14-1034-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx 7cae6c0b-36fe-411b-bbba-093a4c846d84 bfb563cb-42cd-417a-8e69-96c23c514170 g.chr18:55024414C>T uc002lgn.2 + 3 930 c.573C>T c.(571-573)TTC>TTT p.F191F NM_015879 NP_056963 O43173 SIA8C_HUMAN ST8 alpha-N-acetyl-neuraminide 191 Lumenal (Potential). glycosphingolipid biosynthetic process|N-glycan processing|post-translational protein modification|protein N-linked glycosylation via asparagine integral to Golgi membrane alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity breast(1)|skin(1) 2 READ - Rectum adenocarcinoma(59;0.19)|Colorectal(16;0.205) GTTGCAATTTCGCCCCTACGG 0.403 CNN2 1265 broad.mit.edu 37 19 1032680 1032680 + Silent SNP C T T TCGA-14-1034-02B-01D-2280-08 TCGA-14-1034-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx 7cae6c0b-36fe-411b-bbba-093a4c846d84 bfb563cb-42cd-417a-8e69-96c23c514170 g.chr19:1032680C>T uc002lqu.2 + 4 738 c.375C>T c.(373-375)CTC>CTT p.L125L CNN2_uc002lqt.1_Silent_p.L125L|CNN2_uc010drz.1_Intron|CNN2_uc002lqv.2_Silent_p.L125L|CNN2_uc010xgb.1_Intron|CNN2_uc010xgc.1_Silent_p.L125L NM_004368 NP_004359 Q99439 CNN2_HUMAN calponin 2 isoform a 125 CH. actomyosin structure organization|cellular response to mechanical stimulus|regulation of actin filament-based process cell-cell junction|stress fiber actin binding|calmodulin binding 0 Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137) 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)|STAD - Stomach adenocarcinoma(1328;0.18) tgtctcttctcgccctggcgg 0.284 HMHA1 23526 broad.mit.edu 37 19 1080274 1080274 + Missense_Mutation SNP G A A TCGA-14-1034-02B-01D-2280-08 TCGA-14-1034-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx 7cae6c0b-36fe-411b-bbba-093a4c846d84 bfb563cb-42cd-417a-8e69-96c23c514170 g.chr19:1080274G>A uc002lqz.1 + 14 1955 c.1724G>A c.(1723-1725)CGG>CAG p.R575Q HMHA1_uc010xgd.1_Missense_Mutation_p.R591Q|HMHA1_uc010xge.1_Missense_Mutation_p.R415Q|HMHA1_uc002lra.1_Missense_Mutation_p.R415Q|HMHA1_uc002lrb.1_Missense_Mutation_p.R458Q|HMHA1_uc002lrc.1_Missense_Mutation_p.R210Q|HMHA1_uc002lrd.1_5'Flank|HMHA1_uc010dsd.1_5'Flank NM_012292 NP_036424 Q92619 HMHA1_HUMAN minor histocompatibility antigen HA-1 575 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity|metal ion binding lung(1) 1 Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137) 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)|STAD - Stomach adenocarcinoma(1328;0.18) ATGCGTGCCCGGAAGAGCAGC 0.642 TLE2 7089 broad.mit.edu 37 19 3005947 3005947 + Missense_Mutation SNP C T T TCGA-14-1034-02B-01D-2280-08 TCGA-14-1034-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx 7cae6c0b-36fe-411b-bbba-093a4c846d84 bfb563cb-42cd-417a-8e69-96c23c514170 g.chr19:3005947C>T uc002lww.2 - 16 1783 c.1520G>A c.(1519-1521)CGT>CAT p.R507H TLE2_uc010xhb.1_Missense_Mutation_p.R174H|TLE2_uc010dth.2_Missense_Mutation_p.R508H|TLE2_uc010xhc.1_Missense_Mutation_p.R385H|TLE2_uc010dti.2_Missense_Mutation_p.R521H NM_003260 NP_003251 Q04725 TLE2_HUMAN transducin-like enhancer protein 2 isoform 1 507 WD 2. negative regulation of canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|organ morphogenesis|transcription, DNA-dependent|Wnt receptor signaling pathway nucleus protein binding|transcription corepressor activity 0 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)|STAD - Stomach adenocarcinoma(1328;0.18) CTTGCAGGAACGAATGTAGTT 0.632 ZNF788 388507 broad.mit.edu 37 19 12222273 12222273 + Translation_Start_Site SNP C T T TCGA-14-1034-02B-01D-2280-08 TCGA-14-1034-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx 7cae6c0b-36fe-411b-bbba-093a4c846d84 bfb563cb-42cd-417a-8e69-96c23c514170 g.chr19:12222273C>T uc002mtd.2 + 3 548 c.-89C>T c.(-91--87)GACGC>GATGC NR_027049 RecName: Full=Zinc finger protein 788; 0 TATGGACAGACGCCATATAAA 0.428 EMR3 84658 broad.mit.edu 37 19 14758015 14758015 + Missense_Mutation SNP G A A TCGA-14-1034-02B-01D-2280-08 TCGA-14-1034-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx 7cae6c0b-36fe-411b-bbba-093a4c846d84 bfb563cb-42cd-417a-8e69-96c23c514170 g.chr19:14758015G>A uc002mzi.3 - 8 1008 c.860C>T c.(859-861)ACG>ATG p.T287M EMR3_uc010dzp.2_Missense_Mutation_p.T235M|EMR3_uc010xnv.1_Missense_Mutation_p.T161M NM_032571 NP_115960 Q9BY15 EMR3_HUMAN egf-like module-containing mucin-like receptor 287 Extracellular (Potential). neuropeptide signaling pathway extracellular space|integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity ovary(5)|skin(1) 6 GAAAGTCAGCGTCACAGACTT 0.483 ZNF676 163223 broad.mit.edu 37 19 22364158 22364158 + Missense_Mutation SNP C T T TCGA-14-1034-02B-01D-2280-08 TCGA-14-1034-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx 7cae6c0b-36fe-411b-bbba-093a4c846d84 bfb563cb-42cd-417a-8e69-96c23c514170 g.chr19:22364158C>T uc002nqs.1 - 3 679 c.361G>A c.(361-363)GTC>ATC p.V121I NM_001001411 NP_001001411 Q8N7Q3 ZN676_HUMAN zinc finger protein 676 121 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114) TTATGAAAGACGTTTGCATAT 0.333 KIRREL2 84063 broad.mit.edu 37 19 36351505 36351505 + Silent SNP C T T TCGA-14-1034-02B-01D-2280-08 TCGA-14-1034-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx 7cae6c0b-36fe-411b-bbba-093a4c846d84 bfb563cb-42cd-417a-8e69-96c23c514170 g.chr19:36351505C>T uc002ocb.3 + 7 1076 c.864C>T c.(862-864)CCC>CCT p.P288P KIRREL2_uc002obz.3_Silent_p.P288P|KIRREL2_uc002oca.3_Silent_p.P238P|KIRREL2_uc002occ.3_Silent_p.P235P|KIRREL2_uc002ocd.3_Silent_p.P285P NM_199180 NP_954649 Q6UWL6 KIRR2_HUMAN kin of IRRE-like 2 isoform c 288 Ig-like C2-type 3.|Extracellular (Potential). cell adhesion integral to membrane|plasma membrane ovary(1)|central_nervous_system(1)|skin(1) 3 all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0515) TGACTGAGCCCGTGTCCTGCG 0.662 ZNF780B 163131 broad.mit.edu 37 19 40541725 40541725 + Missense_Mutation SNP C G G TCGA-14-1034-02B-01D-2280-08 TCGA-14-1034-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx 7cae6c0b-36fe-411b-bbba-093a4c846d84 bfb563cb-42cd-417a-8e69-96c23c514170 g.chr19:40541725C>G uc002omu.2 - 5 1106 c.1041G>C c.(1039-1041)AAG>AAC p.K347N ZNF780B_uc002omv.2_Missense_Mutation_p.K199N NM_001005851 NP_001005851 Q9Y6R6 Z780B_HUMAN zinc finger protein 780B 347 C2H2-type 7. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1)|pancreas(1) 2 all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925) GTCGAACAAGCTTTGTCAGAA 0.423 NLRP7 199713 broad.mit.edu 37 19 55449589 55449589 + Missense_Mutation SNP G A A TCGA-14-1034-02B-01D-2280-08 TCGA-14-1034-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx 7cae6c0b-36fe-411b-bbba-093a4c846d84 bfb563cb-42cd-417a-8e69-96c23c514170 g.chr19:55449589G>A uc002qih.3 - 5 2028 c.1952C>T c.(1951-1953)CCG>CTG p.P651L NLRP7_uc002qig.3_Intron|NLRP7_uc002qii.3_Missense_Mutation_p.P651L|NLRP7_uc010esk.2_Missense_Mutation_p.P651L|NLRP7_uc010esl.2_Missense_Mutation_p.P679L NM_206828 NP_996611 Q8WX94 NALP7_HUMAN NACHT, leucine rich repeat and PYD containing 7 651 P -> S (in HYDM). ATP binding large_intestine(1)|breast(1)|central_nervous_system(1) 3 GBM - Glioblastoma multiforme(193;0.0325) AGCCCAGTTCGGAATGGTTAG 0.453 B3GNT2 10678 broad.mit.edu 37 2 62450208 62450208 + Missense_Mutation SNP A G G TCGA-14-1034-02B-01D-2280-08 TCGA-14-1034-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx 7cae6c0b-36fe-411b-bbba-093a4c846d84 bfb563cb-42cd-417a-8e69-96c23c514170 g.chr2:62450208A>G uc002sbs.2 + 2 1091 c.853A>G c.(853-855)AAG>GAG p.K285E NM_006577 NP_006568 Q9NY97 B3GN2_HUMAN UDP-GlcNAc:betaGal 285 Lumenal (Potential). Golgi membrane|integral to membrane UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity ovary(1) 1 Lung NSC(7;0.031)|all_lung(7;0.0634) LUSC - Lung squamous cell carcinoma(7;3.55e-06)|Epithelial(17;0.0963) TCATCGGGATAAGAAGCTGAA 0.502 PSD4 23550 broad.mit.edu 37 2 113950118 113950118 + Missense_Mutation SNP G A A rs140435814 byFrequency TCGA-14-1034-02B-01D-2280-08 TCGA-14-1034-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx 7cae6c0b-36fe-411b-bbba-093a4c846d84 bfb563cb-42cd-417a-8e69-96c23c514170 g.chr2:113950118G>A uc002tjc.2 + 6 1973 c.1790G>A c.(1789-1791)CGC>CAC p.R597H PSD4_uc002tjd.2_Missense_Mutation_p.R218H|PSD4_uc002tje.2_Missense_Mutation_p.R568H|PSD4_uc002tjf.2_Missense_Mutation_p.R218H NM_012455 NP_036587 Q8NDX1 PSD4_HUMAN pleckstrin and Sec7 domain containing 4 597 SEC7. regulation of ARF protein signal transduction cytoplasm|plasma membrane ARF guanyl-nucleotide exchange factor activity ovary(2) 2 CGCCTCTATCGCCTGGAGGGC 0.597 TTN 7273 broad.mit.edu 37 2 179474032 179474032 + Silent SNP G A A TCGA-14-1034-02B-01D-2280-08 TCGA-14-1034-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx 7cae6c0b-36fe-411b-bbba-093a4c846d84 bfb563cb-42cd-417a-8e69-96c23c514170 g.chr2:179474032G>A uc010zfg.1 - 222 44525 c.44301C>T c.(44299-44301)CGC>CGT p.R14767R uc002ump.1_Intron|TTN_uc010zfh.1_Silent_p.R8462R|TTN_uc010zfi.1_Silent_p.R8395R|TTN_uc010zfj.1_Silent_p.R8270R NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 15694 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1) 153 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) AATCTCGGACGCGTAGCTGAG 0.458 ASXL1 171023 broad.mit.edu 37 20 31022345 31022345 + Silent SNP C T T TCGA-14-1034-02B-01D-2280-08 TCGA-14-1034-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx 7cae6c0b-36fe-411b-bbba-093a4c846d84 bfb563cb-42cd-417a-8e69-96c23c514170 g.chr20:31022345C>T uc002wxs.2 + 12 2256 c.1830C>T c.(1828-1830)GGC>GGT p.G610G ASXL1_uc010geb.2_Silent_p.G501G NM_015338 NP_056153 Q8IXJ9 ASXL1_HUMAN additional sex combs like 1 isoform 1 610 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent PR-DUB complex metal ion binding|protein binding p.Q592fs*5(1)|p.G610G(1) haematopoietic_and_lymphoid_tissue(239)|large_intestine(6)|central_nervous_system(2)|ovary(1) 248 GTTGGACTGGCGCCAGGACCC 0.632 F|N|Mis MDS|CMML KRTAP10-10 353333 broad.mit.edu 37 21 46057496 46057496 + Silent SNP G A A TCGA-14-1034-02B-01D-2280-08 TCGA-14-1034-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx 7cae6c0b-36fe-411b-bbba-093a4c846d84 bfb563cb-42cd-417a-8e69-96c23c514170 g.chr21:46057496G>A uc002zfq.2 + 1 224 c.162G>A c.(160-162)CAG>CAA p.Q54Q C21orf29_uc002zfe.1_Intron|C21orf29_uc010gpv.1_Intron NM_181688 NP_859016 P60014 KR10A_HUMAN keratin associated protein 10-10 54 3.|15 X 5 AA repeats of C-C-X(3). keratin filament 0 CCTGCTGCCAGACGGCCTGTG 0.657 COL18A1 80781 broad.mit.edu 37 21 46911174 46911174 + Silent SNP C T T TCGA-14-1034-02B-01D-2280-08 TCGA-14-1034-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx 7cae6c0b-36fe-411b-bbba-093a4c846d84 bfb563cb-42cd-417a-8e69-96c23c514170 g.chr21:46911174C>T uc011afs.1 + 21 3369 c.3348C>T c.(3346-3348)GGC>GGT p.G1116G COL18A1_uc002zhg.2_Silent_p.G701G|COL18A1_uc002zhi.2_Silent_p.G881G NM_130444 NP_569711 P39060 COIA1_HUMAN alpha 1 type XVIII collagen isoform 3 precursor 1116 Triple-helical region 4 (COL4). cell adhesion|negative regulation of cell proliferation|organ morphogenesis|visual perception collagen|extracellular space extracellular matrix structural constituent|metal ion binding|protein binding central_nervous_system(1) 1 Colorectal(79;0.0157)|READ - Rectum adenocarcinoma(84;0.0929) GGCAGCCGGGCCTCCCTGGCC 0.682 COL6A2 1292 broad.mit.edu 37 21 47538549 47538549 + Missense_Mutation SNP C T T rs142880107 TCGA-14-1034-02B-01D-2280-08 TCGA-14-1034-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx 7cae6c0b-36fe-411b-bbba-093a4c846d84 bfb563cb-42cd-417a-8e69-96c23c514170 g.chr21:47538549C>T uc002zia.1 + 13 1220 c.1138C>T c.(1138-1140)CGC>TGC p.R380C COL6A2_uc002zhy.1_Missense_Mutation_p.R380C|COL6A2_uc002zhz.1_Missense_Mutation_p.R380C|COL6A2_uc002zib.1_Intron NM_001849 NP_001840 P12110 CO6A2_HUMAN alpha 2 type VI collagen isoform 2C2 precursor 380 Triple-helical region. axon guidance|cell-cell adhesion|extracellular matrix organization|protein heterotrimerization collagen|extracellular space|protein complex extracellular matrix structural constituent|protein binding, bridging central_nervous_system(7)|ovary(1) 8 Breast(49;0.245) Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649) CCGCCCAGGACGCAGAGGGCC 0.682 ZNF445 353274 broad.mit.edu 37 3 44488333 44488333 + Missense_Mutation SNP G C C TCGA-14-1034-02B-01D-2280-08 TCGA-14-1034-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx 7cae6c0b-36fe-411b-bbba-093a4c846d84 bfb563cb-42cd-417a-8e69-96c23c514170 g.chr3:44488333G>C uc003cnf.2 - 8 3178 c.2830C>G c.(2830-2832)CTA>GTA p.L944V ZNF445_uc011azv.1_Missense_Mutation_p.L932V|ZNF445_uc011azw.1_Missense_Mutation_p.L944V NM_181489 NP_852466 P59923 ZN445_HUMAN zinc finger protein 445 944 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1) 1 KIRC - Kidney renal clear cell carcinoma(197;0.0514)|Kidney(197;0.0646) CTTGGTTTTAGCTTCTGTAAT 0.522 DNAH1 25981 broad.mit.edu 37 3 52417479 52417479 + Silent SNP C T T TCGA-14-1034-02B-01D-2280-08 TCGA-14-1034-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx 7cae6c0b-36fe-411b-bbba-093a4c846d84 bfb563cb-42cd-417a-8e69-96c23c514170 g.chr3:52417479C>T uc011bef.1 + 51 8280 c.8019C>T c.(8017-8019)GAC>GAT p.D2673D DNAH1_uc003ddv.2_5'Flank NM_015512 NP_056327 Q9P2D7 DYH1_HUMAN dynein, axonemal, heavy chain 1 2673 AAA 4 (By similarity). ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity large_intestine(3) 3 BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245) ATACTGCGGACGAGCAGGACC 0.557 OR5K4 403278 broad.mit.edu 37 3 98072705 98072705 + Missense_Mutation SNP G T T TCGA-14-1034-02B-01D-2280-08 TCGA-14-1034-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx 7cae6c0b-36fe-411b-bbba-093a4c846d84 bfb563cb-42cd-417a-8e69-96c23c514170 g.chr3:98072705G>T uc011bgv.1 + 1 8 c.8G>T c.(7-9)AGG>ATG p.R3M NM_001005517 NP_001005517 A6NMS3 OR5K4_HUMAN olfactory receptor, family 5, subfamily K, 3 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1) 1 GGAATGGCTAGGGAAAATCAC 0.393 LRRC31 79782 broad.mit.edu 37 3 169579511 169579511 + Missense_Mutation SNP T C C TCGA-14-1034-02B-01D-2280-08 TCGA-14-1034-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx 7cae6c0b-36fe-411b-bbba-093a4c846d84 bfb563cb-42cd-417a-8e69-96c23c514170 g.chr3:169579511T>C uc003fgc.1 - 2 343 c.266A>G c.(265-267)AAG>AGG p.K89R LRRC31_uc010hwp.1_Missense_Mutation_p.K89R NM_024727 NP_079003 Q6UY01 LRC31_HUMAN leucine rich repeat containing 31 89 ovary(2)|skin(1) 3 all_cancers(22;2.76e-22)|all_epithelial(15;4.73e-27)|all_lung(20;9.24e-17)|Lung NSC(18;3.85e-16)|Ovarian(172;0.000223)|Breast(254;0.197) Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.00943) ATCTAGACACTTGTTGACAGC 0.428 TLL1 7092 broad.mit.edu 37 4 166963247 166963247 + Missense_Mutation SNP C T T TCGA-14-1034-02B-01D-2280-08 TCGA-14-1034-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx 7cae6c0b-36fe-411b-bbba-093a4c846d84 bfb563cb-42cd-417a-8e69-96c23c514170 g.chr4:166963247C>T uc003irh.1 + 11 1977 c.1330C>T c.(1330-1332)CGT>TGT p.R444C TLL1_uc011cjn.1_Missense_Mutation_p.R444C|TLL1_uc011cjo.1_Missense_Mutation_p.R268C NM_012464 NP_036596 O43897 TLL1_HUMAN tolloid-like 1 precursor 444 CUB 1. cell differentiation|proteolysis|skeletal system development extracellular region calcium ion binding|metalloendopeptidase activity|zinc ion binding skin(3)|ovary(2)|breast(1)|central_nervous_system(1) 7 all_hematologic(180;0.221) Melanoma(52;0.0315)|Prostate(90;0.0405) GBM - Glioblastoma multiforme(119;0.103) GATTGAGTTTCGTAGCAGCAG 0.368 SLC9A3 6550 broad.mit.edu 37 5 492029 492029 + Silent SNP G A A rs144657077 TCGA-14-1034-02B-01D-2280-08 TCGA-14-1034-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx 7cae6c0b-36fe-411b-bbba-093a4c846d84 bfb563cb-42cd-417a-8e69-96c23c514170 g.chr5:492029G>A uc003jbe.2 - 2 481 c.369C>T c.(367-369)ATC>ATT p.I123I SLC9A3_uc011clx.1_Silent_p.I123I NM_004174 NP_004165 P48764 SL9A3_HUMAN solute carrier family 9 (sodium/hydrogen 123 Helical; Name=D/M4; (Potential). cell surface|integral to membrane sodium:hydrogen antiporter activity 0 Epithelial(17;0.000529)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|all cancers(22;0.00186)|Lung(60;0.0863) CGTCCAGCACGATGGGGGGCA 0.652 CMBL 134147 broad.mit.edu 37 5 10290849 10290849 + Missense_Mutation SNP G A A TCGA-14-1034-02B-01D-2280-08 TCGA-14-1034-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx 7cae6c0b-36fe-411b-bbba-093a4c846d84 bfb563cb-42cd-417a-8e69-96c23c514170 g.chr5:10290849G>A uc003jes.2 - 2 477 c.26C>T c.(25-27)CCG>CTG p.P9L NM_138809 NP_620164 Q96DG6 CMBL_HUMAN carboxymethylenebutenolidase 9 cytosol hydrolase activity|protein binding skin(1) 1 AATGTCACACGGACAAGGATA 0.468 PRDM9 56979 broad.mit.edu 37 5 23523456 23523456 + Silent SNP C A A TCGA-14-1034-02B-01D-2280-08 TCGA-14-1034-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx 7cae6c0b-36fe-411b-bbba-093a4c846d84 bfb563cb-42cd-417a-8e69-96c23c514170 g.chr5:23523456C>A uc003jgo.2 + 9 1121 c.939C>A c.(937-939)GCC>GCA p.A313A NM_020227 NP_064612 Q9NQV7 PRDM9_HUMAN PR domain containing 9 313 SET. meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nucleoplasm histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding ovary(3)|large_intestine(2)|pancreas(1) 6 AATCCTGGGCCAACTGGATGA 0.438 HNSCC(3;0.000094) HCN1 348980 broad.mit.edu 37 5 45262901 45262901 + Missense_Mutation SNP A G G TCGA-14-1034-02B-01D-2280-08 TCGA-14-1034-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx 7cae6c0b-36fe-411b-bbba-093a4c846d84 bfb563cb-42cd-417a-8e69-96c23c514170 g.chr5:45262901A>G uc003jok.2 - 8 1820 c.1795T>C c.(1795-1797)TCA>CCA p.S599P NM_021072 NP_066550 O60741 HCN1_HUMAN hyperpolarization activated cyclic 599 Cytoplasmic (Potential). integral to membrane cAMP binding|sodium channel activity|voltage-gated potassium channel activity ovary(1) 1 AGAAGAATTGAATTTTTCTTT 0.413 TRPC7 57113 broad.mit.edu 37 5 135692836 135692836 + Silent SNP G A A TCGA-14-1034-02B-01D-2280-08 TCGA-14-1034-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx 7cae6c0b-36fe-411b-bbba-093a4c846d84 bfb563cb-42cd-417a-8e69-96c23c514170 g.chr5:135692836G>A uc003lbn.1 - 1 240 c.237C>T c.(235-237)AAC>AAT p.N79N TRPC7_uc010jef.1_Silent_p.N71N|TRPC7_uc010jeg.1_RNA|TRPC7_uc010jeh.1_Silent_p.N71N|TRPC7_uc010jei.1_Silent_p.N71N|TRPC7_uc010jej.1_Translation_Start_Site NM_020389 NP_065122 Q9HCX4 TRPC7_HUMAN transient receptor potential cation channel, 80 Cytoplasmic (Potential).|ANK 2. axon guidance|platelet activation integral to membrane|plasma membrane calcium channel activity|protein binding 0 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233) GCTGCAGAGCGTTCTGCCCCA 0.607 PPARGC1B 133522 broad.mit.edu 37 5 149212575 149212575 + Silent SNP C T T TCGA-14-1034-02B-01D-2280-08 TCGA-14-1034-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx 7cae6c0b-36fe-411b-bbba-093a4c846d84 bfb563cb-42cd-417a-8e69-96c23c514170 g.chr5:149212575C>T uc003lrc.2 + 5 981 c.939C>T c.(937-939)CCC>CCT p.P313P PPARGC1B_uc003lrb.1_Silent_p.P313P|PPARGC1B_uc003lrd.2_Silent_p.P274P|PPARGC1B_uc003lrf.2_Silent_p.P292P|PPARGC1B_uc003lre.1_Silent_p.P292P NM_133263 NP_573570 Q86YN6 PRGC2_HUMAN peroxisome proliferator-activated receptor 313 estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter mediator complex AF-2 domain binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|receptor activator activity|RNA binding|RNA polymerase II transcription cofactor activity 0 KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147) AGCCACTCCCCAAGGCCTGCA 0.627 FAT2 2196 broad.mit.edu 37 5 150901466 150901466 + Missense_Mutation SNP G A A TCGA-14-1034-02B-01D-2280-08 TCGA-14-1034-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx 7cae6c0b-36fe-411b-bbba-093a4c846d84 bfb563cb-42cd-417a-8e69-96c23c514170 g.chr5:150901466G>A uc003lue.3 - 18 10701 c.10688C>T c.(10687-10689)ACG>ATG p.T3563M GM2A_uc011dcs.1_Intron|FAT2_uc003lud.3_Missense_Mutation_p.T256M NM_001447 NP_001438 Q9NYQ8 FAT2_HUMAN FAT tumor suppressor 2 precursor 3563 Cadherin 32.|Extracellular (Potential). epithelial cell migration|homophilic cell adhesion cell-cell adherens junction|integral to membrane|nucleus calcium ion binding ovary(4)|upper_aerodigestive_tract(1)|skin(1) 6 Medulloblastoma(196;0.0912)|all_hematologic(541;0.104) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) ATAGGTCAGCGTGTCCTGGGG 0.602 F13A1 2162 broad.mit.edu 37 6 6267040 6267040 + Missense_Mutation SNP G A A TCGA-14-1034-02B-01D-2280-08 TCGA-14-1034-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx 7cae6c0b-36fe-411b-bbba-093a4c846d84 bfb563cb-42cd-417a-8e69-96c23c514170 g.chr6:6267040G>A uc003mwv.2 - 4 445 c.322C>T c.(322-324)CGC>TGC p.R108C F13A1_uc011dib.1_Missense_Mutation_p.R45C NM_000129 NP_000120 P00488 F13A_HUMAN coagulation factor XIII A1 subunit precursor 108 peptide cross-linking|platelet activation|platelet degranulation extracellular region|platelet alpha granule lumen acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity ovary(2)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|pancreas(1)|skin(1) 6 Ovarian(93;0.0816) all_hematologic(90;0.152) L-Glutamine(DB00130) TGTGGGTAGCGACCTATGAGA 0.448 HIST1H2BA 255626 broad.mit.edu 37 6 25727485 25727485 + Missense_Mutation SNP A G G TCGA-14-1034-02B-01D-2280-08 TCGA-14-1034-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx 7cae6c0b-36fe-411b-bbba-093a4c846d84 bfb563cb-42cd-417a-8e69-96c23c514170 g.chr6:25727485A>G uc003nfd.2 + 1 349 c.349A>G c.(349-351)ACC>GCC p.T117A HIST1H2AA_uc003nfc.2_5'Flank NM_170610 NP_733759 Q96A08 H2B1A_HUMAN histone cluster 1, H2ba 117 nucleosome assembly nucleosome|nucleus DNA binding kidney(1) 1 GTCTGAGGGCACCAAGGCTGT 0.488 SCAND3 114821 broad.mit.edu 37 6 28539828 28539828 + Missense_Mutation SNP C T T rs140560647 TCGA-14-1034-02B-01D-2280-08 TCGA-14-1034-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx 7cae6c0b-36fe-411b-bbba-093a4c846d84 bfb563cb-42cd-417a-8e69-96c23c514170 g.chr6:28539828C>T uc003nlo.2 - 4 4456 c.3838G>A c.(3838-3840)GGA>AGA p.G1280R NM_052923 NP_443155 Q6R2W3 SCND3_HUMAN SCAN domain containing 3 1280 DNA integration|viral reproduction nucleus DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity ovary(1) 1 gtagagaatccggtctcacag 0.000 VARS 7407 broad.mit.edu 37 6 31749730 31749730 + Splice_Site SNP C T T TCGA-14-1034-02B-01D-2280-08 TCGA-14-1034-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx 7cae6c0b-36fe-411b-bbba-093a4c846d84 bfb563cb-42cd-417a-8e69-96c23c514170 g.chr6:31749730C>T uc003nxe.2 - 19 2665 c.2242_splice c.e19-1 p.D748_splice VARS_uc003nxf.1_5'Flank|VARS_uc011doi.1_Splice_Site NM_006295 NP_006286 P26640 SYVC_HUMAN valyl-tRNA synthetase translational elongation|valyl-tRNA aminoacylation cytosol ATP binding|protein binding|valine-tRNA ligase activity upper_aerodigestive_tract(1)|ovary(1)|skin(1) 3 L-Valine(DB00161) CATCAGGGTCCTGCCACAGGT 0.632 C6orf165 154313 broad.mit.edu 37 6 88140868 88140868 + Missense_Mutation SNP C T T TCGA-14-1034-02B-01D-2280-08 TCGA-14-1034-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx 7cae6c0b-36fe-411b-bbba-093a4c846d84 bfb563cb-42cd-417a-8e69-96c23c514170 g.chr6:88140868C>T uc003plv.2 + 10 1369 c.1277C>T c.(1276-1278)GCA>GTA p.A426V C6orf165_uc003plw.2_Missense_Mutation_p.A238V|C6orf165_uc010kbv.1_RNA|C6orf165_uc003plu.1_Missense_Mutation_p.A426V NM_001031743 NP_001026913 Q8IYR0 CF165_HUMAN hypothetical protein LOC154313 isoform 1 426 central_nervous_system(1) 1 all_cancers(76;3.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;3.51e-09)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00575) BRCA - Breast invasive adenocarcinoma(108;0.0419) ACGTTTGCTGCAACAGATGGT 0.378 USP45 85015 broad.mit.edu 37 6 99930669 99930669 + Missense_Mutation SNP G A A TCGA-14-1034-02B-01D-2280-08 TCGA-14-1034-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx 7cae6c0b-36fe-411b-bbba-093a4c846d84 bfb563cb-42cd-417a-8e69-96c23c514170 g.chr6:99930669G>A uc003ppx.2 - 8 1338 c.805C>T c.(805-807)CCA>TCA p.P269S USP45_uc003ppw.2_Intron|USP45_uc003ppy.2_RNA|USP45_uc010kcq.1_Missense_Mutation_p.P269S|USP45_uc003ppz.2_Missense_Mutation_p.P269S|USP45_uc003pqa.2_Missense_Mutation_p.P269S NM_001080481 NP_001073950 Q70EL2 UBP45_HUMAN ubiquitin specific peptidase 45 269 ubiquitin-dependent protein catabolic process cysteine-type peptidase activity|ubiquitin thiolesterase activity|zinc ion binding ovary(1)|breast(1) 2 all_cancers(76;0.000208)|Acute lymphoblastic leukemia(125;8.41e-11)|all_hematologic(75;2.56e-07)|all_epithelial(107;0.122)|Colorectal(196;0.133) BRCA - Breast invasive adenocarcinoma(108;0.0718) GGAGAAAGTGGTCCTTTTTCA 0.378 PTPRK 5796 broad.mit.edu 37 6 128304041 128304041 + Missense_Mutation SNP C T T TCGA-14-1034-02B-01D-2280-08 TCGA-14-1034-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx 7cae6c0b-36fe-411b-bbba-093a4c846d84 bfb563cb-42cd-417a-8e69-96c23c514170 g.chr6:128304041C>T uc003qbk.2 - 24 3836 c.3469G>A c.(3469-3471)GCA>ACA p.A1157T PTPRK_uc003qbj.2_Missense_Mutation_p.A1158T|PTPRK_uc010kfc.2_Missense_Mutation_p.A1164T|PTPRK_uc011ebu.1_Missense_Mutation_p.A1180T NM_002844 NP_002835 Q15262 PTPRK_HUMAN protein tyrosine phosphatase, receptor type, K 1157 Cytoplasmic (Potential). cell migration|cellular response to reactive oxygen species|cellular response to UV|focal adhesion assembly|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of keratinocyte proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transforming growth factor beta receptor signaling pathway adherens junction|cell surface|cell-cell junction|integral to plasma membrane|leading edge membrane beta-catenin binding|gamma-catenin binding|protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity ovary(3)|skin(2)|pancreas(1)|kidney(1)|central_nervous_system(1) 8 all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24) TCAAAATATGCAGCTTTAAAT 0.338 TAAR5 9038 broad.mit.edu 37 6 132910519 132910519 + Missense_Mutation SNP C T T TCGA-14-1034-02B-01D-2280-08 TCGA-14-1034-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx 7cae6c0b-36fe-411b-bbba-093a4c846d84 bfb563cb-42cd-417a-8e69-96c23c514170 g.chr6:132910519C>T uc003qdk.2 - 1 359 c.307G>A c.(307-309)GGG>AGG p.G103R NM_003967 NP_003958 O14804 TAAR5_HUMAN trace amine associated receptor 5 103 Extracellular (Potential). synaptic transmission integral to plasma membrane G-protein coupled receptor activity skin(1) 1 Breast(56;0.112) OV - Ovarian serous cystadenocarcinoma(155;0.00604)|GBM - Glioblastoma multiforme(226;0.015) AGGAAGTCCCCGAAGAACCAG 0.582 DNAH11 8701 broad.mit.edu 37 7 21640705 21640705 + Silent SNP G A A TCGA-14-1034-02B-01D-2280-08 TCGA-14-1034-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx 7cae6c0b-36fe-411b-bbba-093a4c846d84 bfb563cb-42cd-417a-8e69-96c23c514170 g.chr7:21640705G>A uc003svc.2 + 17 3364 c.3333G>A c.(3331-3333)GTG>GTA p.V1111V NM_003777 NP_003768 Q96DT5 DYH11_HUMAN dynein, axonemal, heavy chain 11 1111 Stem (By similarity). microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity ovary(8)|large_intestine(3)|pancreas(3)|central_nervous_system(1) 15 GGTTCAAGGTGGACATGAAGC 0.353 Kartagener_syndrome GPNMB 10457 broad.mit.edu 37 7 23286464 23286464 + Translation_Start_Site SNP G A A TCGA-14-1034-02B-01D-2280-08 TCGA-14-1034-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx 7cae6c0b-36fe-411b-bbba-093a4c846d84 bfb563cb-42cd-417a-8e69-96c23c514170 g.chr7:23286464G>A uc003swc.2 + 1 149 c.-12G>A c.(-14--10)CCGTG>CCATG GPNMB_uc003swa.2_Translation_Start_Site|GPNMB_uc003swb.2_Translation_Start_Site|GPNMB_uc011jyy.1_Translation_Start_Site|GPNMB_uc011jyz.1_Translation_Start_Site NM_001005340 NP_001005340 Q14956 GPNMB_HUMAN glycoprotein (transmembrane) nmb isoform a negative regulation of cell proliferation melanosome ovary(3)|breast(2) 5 GBM - Glioblastoma multiforme(13;0.154) GCCTGCGTCCGTGAGAATTCA 0.488 AVL9 23080 broad.mit.edu 37 7 32620473 32620473 + Missense_Mutation SNP G C C rs150772071 byFrequency TCGA-14-1034-02B-01D-2280-08 TCGA-14-1034-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx 7cae6c0b-36fe-411b-bbba-093a4c846d84 bfb563cb-42cd-417a-8e69-96c23c514170 g.chr7:32620473G>C uc003tcv.1 + 15 1948 c.1802G>C c.(1801-1803)CGG>CCG p.R601P AVL9_uc011kai.1_Intron|AVL9_uc010kwj.1_Missense_Mutation_p.G385R NM_015060 NP_055875 Q8NBF6 AVL9_HUMAN AVL9 homolog (S. cerevisiase) 601 integral to membrane 0 ACAACTAGCCGGAATGTTGTA 0.353 EGFR 1956 broad.mit.edu 37 7 55210077 55210077 + Missense_Mutation SNP G A A TCGA-14-1034-02B-01D-2280-08 TCGA-14-1034-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx 7cae6c0b-36fe-411b-bbba-093a4c846d84 bfb563cb-42cd-417a-8e69-96c23c514170 g.chr7:55210077G>A uc003tqk.2 + 2 433 c.187G>A c.(187-189)GGG>AGG p.G63R EGFR_uc003tqh.2_Missense_Mutation_p.G63R|EGFR_uc003tqi.2_Missense_Mutation_p.G63R|EGFR_uc003tqj.2_Missense_Mutation_p.G63R|EGFR_uc010kzg.1_Missense_Mutation_p.G63R|EGFR_uc011kco.1_Missense_Mutation_p.G10R NM_005228 NP_005219 P00533 EGFR_HUMAN epidermal growth factor receptor isoform a 63 Extracellular (Potential). activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity p.V30_R297>G(5)|p.G63R(1) lung(9213)|central_nervous_system(103)|stomach(41)|upper_aerodigestive_tract(39)|prostate(32)|ovary(31)|thyroid(24)|breast(11)|peritoneum(9)|oesophagus(9)|salivary_gland(9)|large_intestine(8)|kidney(8)|urinary_tract(6)|skin(5)|adrenal_gland(5)|soft_tissue(4)|bone(3)|NS(2)|pancreas(2)|haematopoietic_and_lymphoid_tissue(2)|thymus(2)|liver(2)|eye(1) 9571 all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318) GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607) Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072) GGTGGTCCTTGGGAATTTGGA 0.398 8 A|O|Mis glioma|NSCLC NSCLC Lung_Cancer_Familial_Clustering_of TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08) GRM8 2918 broad.mit.edu 37 7 126173853 126173853 + Missense_Mutation SNP G A A TCGA-14-1034-02B-01D-2280-08 TCGA-14-1034-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx 7cae6c0b-36fe-411b-bbba-093a4c846d84 bfb563cb-42cd-417a-8e69-96c23c514170 g.chr7:126173853G>A uc003vlr.2 - 8 1894 c.1583C>T c.(1582-1584)ACG>ATG p.T528M GRM8_uc003vls.2_RNA|GRM8_uc011kof.1_RNA|GRM8_uc003vlt.2_Missense_Mutation_p.T528M|GRM8_uc010lkz.1_RNA NM_000845 NP_000836 O00222 GRM8_HUMAN glutamate receptor, metabotropic 8 isoform a 528 Extracellular (Potential). negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception integral to plasma membrane lung(15)|ovary(5)|pancreas(1)|breast(1)|skin(1) 23 Prostate(267;0.186) L-Glutamic Acid(DB00142) CCCTTTCACCGTTTTCTTCCT 0.542 HNSCC(24;0.065) TAS2R41 259287 broad.mit.edu 37 7 143175209 143175209 + Nonsense_Mutation SNP C T T TCGA-14-1034-02B-01D-2280-08 TCGA-14-1034-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx 7cae6c0b-36fe-411b-bbba-093a4c846d84 bfb563cb-42cd-417a-8e69-96c23c514170 g.chr7:143175209C>T uc003wdc.1 + 1 244 c.244C>T c.(244-246)CGA>TGA p.R82* uc003wda.2_Intron NM_176883 NP_795364 P59536 T2R41_HUMAN taste receptor, type 2, member 41 82 Extracellular (Potential). sensory perception of taste integral to membrane G-protein coupled receptor activity pancreas(1)|skin(1) 2 Melanoma(164;0.15) GGGTCTCGGCCGACAGTTCTT 0.542 ZNF862 643641 broad.mit.edu 37 7 149557807 149557807 + Nonsense_Mutation SNP G T T TCGA-14-1034-02B-01D-2280-08 TCGA-14-1034-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx 7cae6c0b-36fe-411b-bbba-093a4c846d84 bfb563cb-42cd-417a-8e69-96c23c514170 g.chr7:149557807G>T uc010lpn.2 + 7 1750 c.1558G>T c.(1558-1560)GAA>TAA p.E520* ZNF862_uc003wgm.2_RNA NM_001099220 NP_001092690 O60290 ZN862_HUMAN zinc finger protein 862 520 TTF-type 2. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding|nucleic acid binding|protein dimerization activity skin(1) 1 AAAATACCATGAAGTCAGCAA 0.488 SFTPC 6440 broad.mit.edu 37 8 22020147 22020147 + Missense_Mutation SNP C T T TCGA-14-1034-02B-01D-2280-08 TCGA-14-1034-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx 7cae6c0b-36fe-411b-bbba-093a4c846d84 bfb563cb-42cd-417a-8e69-96c23c514170 g.chr8:22020147C>T uc003xax.3 + 2 261 c.103C>T c.(103-105)CGC>TGC p.R35C SFTPC_uc003xaw.3_Missense_Mutation_p.R84C|SFTPC_uc011kza.1_Missense_Mutation_p.R35C|SFTPC_uc003xaz.2_Missense_Mutation_p.R35C|SFTPC_uc003xay.3_Missense_Mutation_p.R35C|BMP1_uc011kzb.1_5'Flank|BMP1_uc003xba.2_5'Flank|BMP1_uc003xbb.2_5'Flank|BMP1_uc003xbe.2_5'Flank|BMP1_uc003xbc.2_5'Flank|BMP1_uc003xbd.2_5'Flank|BMP1_uc003xbf.2_5'Flank|BMP1_uc003xbg.2_5'Flank|BMP1_uc011kzc.1_5'Flank|BMP1_uc003xbh.2_5'Flank|BMP1_uc003xbi.2_5'Flank NM_003018 NP_003009 P11686 PSPC_HUMAN surfactant protein C precursor 35 respiratory gaseous exchange extracellular space 0 Colorectal(74;0.00191)|COAD - Colon adenocarcinoma(73;0.0615)|READ - Rectum adenocarcinoma(644;0.1) GCACCTGAAACGCCTTCTTAT 0.602 ADAM28 10863 broad.mit.edu 37 8 24199174 24199174 + Silent SNP G T T TCGA-14-1034-02B-01D-2280-08 TCGA-14-1034-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx 7cae6c0b-36fe-411b-bbba-093a4c846d84 bfb563cb-42cd-417a-8e69-96c23c514170 g.chr8:24199174G>T uc003xdy.2 + 16 1817 c.1734G>T c.(1732-1734)CGG>CGT p.R578R ADAM28_uc011laa.1_RNA|ADAM28_uc010lua.2_Silent_p.R265R NM_014265 NP_055080 Q9UKQ2 ADA28_HUMAN ADAM metallopeptidase domain 28 isoform 1 578 Extracellular (Potential).|Cys-rich. proteolysis|spermatogenesis extracellular region|integral to membrane|plasma membrane metalloendopeptidase activity|zinc ion binding p.R578R(1) skin(3)|lung(1)|central_nervous_system(1) 5 Prostate(55;0.0959) Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0434)|BRCA - Breast invasive adenocarcinoma(99;0.175) GGAAAGGACGGATAGTGACTT 0.423 HOOK3 84376 broad.mit.edu 37 8 42841865 42841866 + Frame_Shift_Ins INS - A A TCGA-14-1034-02B-01D-2280-08 TCGA-14-1034-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx 7cae6c0b-36fe-411b-bbba-093a4c846d84 bfb563cb-42cd-417a-8e69-96c23c514170 g.chr8:42841865_42841866insA uc003xpr.2 + 15 1701_1702 c.1459_1460insA c.(1459-1461)GAAfs p.E487fs HOOK3_uc010lxq.1_Frame_Shift_Ins_p.E487fs NM_032410 NP_115786 Q86VS8 HOOK3_HUMAN golgi-associated microtubule-binding protein 487 Potential. cytoplasmic microtubule organization|early endosome to late endosome transport|endosome organization|endosome to lysosome transport|Golgi localization|interkinetic nuclear migration|lysosome organization|microtubule anchoring|negative regulation of neurogenesis|protein localization to centrosome|protein transport cis-Golgi network|FHF complex|microtubule|pericentriolar material identical protein binding|microtubule binding ovary(1)|breast(1) 2 Ovarian(28;0.01)|Prostate(17;0.0119)|Lung SC(25;0.184) all_lung(54;0.000105)|Lung NSC(58;0.000419)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.129) Lung(22;0.048)|LUSC - Lung squamous cell carcinoma(45;0.114) TTCGGACAATGAAAAAATAGCC 0.361 T RET papillary thyroid UBE2W 55284 broad.mit.edu 37 8 74722708 74722709 + Splice_Site DNP CC AA AA TCGA-14-1034-02B-01D-2280-08 TCGA-14-1034-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx 7cae6c0b-36fe-411b-bbba-093a4c846d84 bfb563cb-42cd-417a-8e69-96c23c514170 g.chr8:74722708_74722709CC>AA uc003xzv.2 - 4 419 c.366_splice c.e4+1 p.K122_splice UBE2W_uc003xzt.2_Splice_Site_p.K122_splice|UBE2W_uc003xzu.2_Splice_Site_p.K133_splice|UBE2W_uc003xzw.2_Splice_Site NM_018299 NP_060769 Q96B02 UBE2W_HUMAN ubiquitin-conjugating enzyme E2W (putative) protein K11-linked ubiquitination|protein monoubiquitination ATP binding|protein binding|ubiquitin-protein ligase activity 0 Breast(64;0.0311) Epithelial(68;0.0235)|all cancers(69;0.0687)|BRCA - Breast invasive adenocarcinoma(89;0.069) AAAAGTCTTACCTTTTCCTTGC 0.327 SLC26A7 115111 broad.mit.edu 37 8 92407320 92407320 + Missense_Mutation SNP G A A TCGA-14-1034-02B-01D-2280-08 TCGA-14-1034-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx 7cae6c0b-36fe-411b-bbba-093a4c846d84 bfb563cb-42cd-417a-8e69-96c23c514170 g.chr8:92407320G>A uc003yex.2 + 20 2244 c.1966G>A c.(1966-1968)GTC>ATC p.V656I SLC26A7_uc003yey.2_RNA|SLC26A7_uc003yfa.2_Missense_Mutation_p.V656I NM_052832 NP_439897 Q8TE54 S26A7_HUMAN solute carrier family 26, member 7 isoform a 656 Cytoplasmic (Potential).|Membrane targeting. basolateral plasma membrane|integral to membrane|recycling endosome membrane anion:anion antiporter activity|bicarbonate transmembrane transporter activity|chloride channel activity|oxalate transmembrane transporter activity|sulfate transmembrane transporter activity ovary(2) 2 BRCA - Breast invasive adenocarcinoma(11;0.00802) CCACAGTGAAGTCTGAGACCC 0.393 TG 7038 broad.mit.edu 37 8 133880390 133880390 + Missense_Mutation SNP C T T TCGA-14-1034-02B-01D-2280-08 TCGA-14-1034-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx 7cae6c0b-36fe-411b-bbba-093a4c846d84 bfb563cb-42cd-417a-8e69-96c23c514170 g.chr8:133880390C>T uc003ytw.2 + 2 139 c.98C>T c.(97-99)CCC>CTC p.P33L NM_003235 NP_003226 P01266 THYG_HUMAN thyroglobulin precursor 33 Thyroglobulin type-1 1. hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation extracellular space hormone activity ovary(8)|breast(4)|pancreas(1)|central_nervous_system(1)|skin(1) 15 Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155) Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735) BRCA - Breast invasive adenocarcinoma(115;0.000701) KIRC - Kidney renal clear cell carcinoma(542;0.0546) CCCCTTCGTCCCTGTGAGCTG 0.552 CYC1 1537 broad.mit.edu 37 8 145151572 145151572 + Missense_Mutation SNP T A A TCGA-14-1034-02B-01D-2280-08 TCGA-14-1034-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx 7cae6c0b-36fe-411b-bbba-093a4c846d84 bfb563cb-42cd-417a-8e69-96c23c514170 g.chr8:145151572T>A uc003zaz.3 + 5 740 c.697T>A c.(697-699)TTC>ATC p.F233I CYC1_uc003zay.2_Missense_Mutation_p.F174I NM_001916 NP_001907 P08574 CY1_HUMAN cytochrome c-1 233 respiratory electron transport chain|transport cell junction|integral to membrane|mitochondrial inner membrane|respiratory chain electron transporter, transferring electrons from CoQH2-cytochrome c reductase complex and cytochrome c oxidase complex activity|heme binding 0 all_cancers(97;2.87e-11)|all_epithelial(106;2.16e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;8.71e-40)|all cancers(56;3e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105) AGGTCTCTACTTCAACCCCTA 0.582 APBA1 320 broad.mit.edu 37 9 72131360 72131360 + Missense_Mutation SNP G A A TCGA-14-1034-02B-01D-2280-08 TCGA-14-1034-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx 7cae6c0b-36fe-411b-bbba-093a4c846d84 bfb563cb-42cd-417a-8e69-96c23c514170 g.chr9:72131360G>A uc004ahh.2 - 2 1043 c.767C>T c.(766-768)GCG>GTG p.A256V NM_001163 NP_001154 Q02410 APBA1_HUMAN amyloid beta A4 precursor protein-binding, 256 Munc-18-1 binding. axon cargo transport|cell adhesion|intracellular protein transport|nervous system development|protein complex assembly|synaptic transmission synaptic vesicle lung(1) 1 CGGGTAGGGCGCGAACTCGGC 0.682 DENND1A 57706 broad.mit.edu 37 9 126219637 126219637 + Silent SNP G A A TCGA-14-1034-02B-01D-2280-08 TCGA-14-1034-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx 7cae6c0b-36fe-411b-bbba-093a4c846d84 bfb563cb-42cd-417a-8e69-96c23c514170 g.chr9:126219637G>A uc004bnz.1 - 15 1409 c.1176C>T c.(1174-1176)GGC>GGT p.G392G DENND1A_uc011lzl.1_Silent_p.G167G|DENND1A_uc004bny.1_Intron|DENND1A_uc011lzm.1_Silent_p.G360G|DENND1A_uc004boa.1_Silent_p.G392G|DENND1A_uc004bob.1_Silent_p.G362G|DENND1A_uc004boc.2_Silent_p.G360G NM_020946 NP_065997 Q8TEH3 DEN1A_HUMAN DENN/MADD domain containing 1A isoform 1 392 cell junction|clathrin coated vesicle membrane|presynaptic membrane guanyl-nucleotide exchange factor activity ovary(2) 2 CAGCGTACTCGCCCATGTTGA 0.438 ARSD 414 broad.mit.edu 37 X 2840042 2840042 + Missense_Mutation SNP G C C TCGA-14-1034-02B-01D-2280-08 TCGA-14-1034-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx 7cae6c0b-36fe-411b-bbba-093a4c846d84 bfb563cb-42cd-417a-8e69-96c23c514170 g.chrX:2840042G>C uc004cqy.2 - 3 294 c.218C>G c.(217-219)GCA>GGA p.A73G ARSD_uc004cqz.1_Intron|ARSD_uc004cra.1_Missense_Mutation_p.A73G|ARSD_uc004crb.3_Missense_Mutation_p.A73G NM_001669 NP_001660 P51689 ARSD_HUMAN arylsulfatase D isoform a precursor 73 lysosome arylsulfatase activity|metal ion binding 0 all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122) ACCTTCCTCTGCAAGCTGGTC 0.547 PPEF1 5475 broad.mit.edu 37 X 18845405 18845405 + Missense_Mutation SNP G A A TCGA-14-1034-02B-01D-2280-08 TCGA-14-1034-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx 7cae6c0b-36fe-411b-bbba-093a4c846d84 bfb563cb-42cd-417a-8e69-96c23c514170 g.chrX:18845405G>A uc004cyq.2 + 19 2243 c.1762G>A c.(1762-1764)GTG>ATG p.V588M PPEF1_uc004cyp.2_Missense_Mutation_p.V560M|PPEF1_uc004cyr.2_Missense_Mutation_p.V526M|PPEF1_uc004cys.2_Missense_Mutation_p.V588M|PPEF1_uc011mja.1_Missense_Mutation_p.V523M|PPEF1_uc011mjb.1_Missense_Mutation_p.V532M NM_006240 NP_006231 O14829 PPE1_HUMAN protein phosphatase with EF hand calcium-binding 588 EF-hand 2.|1 (Potential). detection of stimulus involved in sensory perception|protein dephosphorylation calcium ion binding|iron ion binding|manganese ion binding|protein binding|protein serine/threonine phosphatase activity 0 Hepatocellular(33;0.183) CCTGATCTCCGTGGAAGAATT 0.418 CCDC22 28952 broad.mit.edu 37 X 49093699 49093699 + Missense_Mutation SNP G A A TCGA-14-1034-02B-01D-2280-08 TCGA-14-1034-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx 7cae6c0b-36fe-411b-bbba-093a4c846d84 bfb563cb-42cd-417a-8e69-96c23c514170 g.chrX:49093699G>A uc004dnd.1 + 2 353 c.197G>A c.(196-198)CGC>CAC p.R66H CCDC22_uc011mna.1_Missense_Mutation_p.R66H|CCDC22_uc004dnc.1_RNA NM_014008 NP_054727 O60826 CCD22_HUMAN coiled-coil domain containing 22 66 central_nervous_system(1) 1 GCCCGGTTCCGCCTGGCCATG 0.587 GPR174 84636 broad.mit.edu 37 X 78427086 78427086 + Missense_Mutation SNP T A A TCGA-14-1034-02B-01D-2280-08 TCGA-14-1034-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx 7cae6c0b-36fe-411b-bbba-093a4c846d84 bfb563cb-42cd-417a-8e69-96c23c514170 g.chrX:78427086T>A uc004edg.1 + 1 618 c.582T>A c.(580-582)TTT>TTA p.F194L NM_032553 NP_115942 Q9BXC1 GP174_HUMAN putative purinergic receptor FKSG79 194 Helical; Name=5; (Potential). integral to membrane|plasma membrane purinergic nucleotide receptor activity, G-protein coupled lung(1)|central_nervous_system(1) 2 TGATTGGGTTTGTAACTCCGC 0.453 HNSCC(63;0.18) SYTL4 94121 broad.mit.edu 37 X 99956599 99956599 + Missense_Mutation SNP G A A rs151147513 TCGA-14-1034-02B-01D-2280-08 TCGA-14-1034-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx 7cae6c0b-36fe-411b-bbba-093a4c846d84 bfb563cb-42cd-417a-8e69-96c23c514170 g.chrX:99956599G>A uc004egd.3 - 5 537 c.181C>T c.(181-183)CGG>TGG p.R61W SYTL4_uc010nnc.2_Missense_Mutation_p.R61W|SYTL4_uc004ege.3_Missense_Mutation_p.R61W|SYTL4_uc004egf.3_Missense_Mutation_p.R61W|SYTL4_uc004egg.3_Missense_Mutation_p.R61W NM_080737 NP_542775 Q96C24 SYTL4_HUMAN synaptotagmin-like 4 61 RabBD. exocytosis|intracellular protein transport extrinsic to membrane|plasma membrane|synaptic vesicle|transport vesicle membrane neurexin binding|phospholipid binding|Rab GTPase binding|transporter activity|zinc ion binding ovary(2) 2 Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071) GCACAGGTCCGATCACTGTAG 0.537 ZCCHC12 170261 broad.mit.edu 37 X 117959260 117959260 + Missense_Mutation SNP T G G TCGA-14-1034-02B-01D-2280-08 TCGA-14-1034-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx 7cae6c0b-36fe-411b-bbba-093a4c846d84 bfb563cb-42cd-417a-8e69-96c23c514170 g.chrX:117959260T>G uc004equ.2 + 4 526 c.53T>G c.(52-54)TTG>TGG p.L18W NM_173798 NP_776159 Q6PEW1 ZCH12_HUMAN zinc finger, CCHC domain containing 12 18 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleic acid binding|zinc ion binding ovary(1) 1 AATGCACCCTTGCCGCCTTGG 0.473 KIAA1210 57481 broad.mit.edu 37 X 118250604 118250604 + Missense_Mutation SNP C A A TCGA-14-1034-02B-01D-2280-08 TCGA-14-1034-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx 7cae6c0b-36fe-411b-bbba-093a4c846d84 bfb563cb-42cd-417a-8e69-96c23c514170 g.chrX:118250604C>A uc004era.3 - 4 505 c.505G>T c.(505-507)GCC>TCC p.A169S NM_020721 NP_065772 Q9ULL0 K1210_HUMAN hypothetical protein LOC57481 169 ovary(4)|skin(1) 5 CTCTTAAGGGCTTTAAATTTG 0.398 GPR112 139378 broad.mit.edu 37 X 135455198 135455198 + Missense_Mutation SNP C A A TCGA-14-1034-02B-01D-2280-08 TCGA-14-1034-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx 7cae6c0b-36fe-411b-bbba-093a4c846d84 bfb563cb-42cd-417a-8e69-96c23c514170 g.chrX:135455198C>A uc004ezu.1 + 15 8042 c.7751C>A c.(7750-7752)TCC>TAC p.S2584Y GPR112_uc010nsb.1_Missense_Mutation_p.S2379Y NM_153834 NP_722576 Q8IZF6 GP112_HUMAN G-protein coupled receptor 112 2584 Extracellular (Potential). neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity ovary(5)|large_intestine(2)|skin(2)|lung(1)|breast(1)|pancreas(1) 12 Acute lymphoblastic leukemia(192;0.000127) AGCATTCACTCCTATGAAGAA 0.537