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 IL28RA 163702 broad.mit.edu 37 1 24507335 24507335 + Missense_Mutation SNP C T T TCGA-12-0615-01A-01D-1492-08 TCGA-12-0615-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx a6068793-51e4-4762-9150-cdfb030e8ade c90ff476-f8e2-41b0-977d-fb36577427f4 g.chr1:24507335C>T uc001bis.2 - 2 81 c.68G>A c.(67-69)CGT>CAT p.R23H IL28RA_uc001bir.2_Missense_Mutation_p.R23H|IL28RA_uc001bit.2_Missense_Mutation_p.R23H|IL28RA_uc001biu.2_Intron|IL28RA_uc001biv.2_Missense_Mutation_p.R23H NM_170743 NP_734464 Q8IU57 I28RA_HUMAN interleukin 28 receptor, alpha isoform 1 23 Extracellular (Potential).|Fibronectin type-III. cytokine-mediated signaling pathway|negative regulation of cell proliferation|regulation of defense response to virus by host interleukin-28 receptor complex protein binding|receptor activity 0 Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.00117)|all_lung(284;0.00151)|Ovarian(437;0.00348)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;3.21e-24)|Colorectal(126;6.61e-08)|COAD - Colon adenocarcinoma(152;3.56e-06)|GBM - Glioblastoma multiforme(114;0.000132)|BRCA - Breast invasive adenocarcinoma(304;0.00104)|KIRC - Kidney renal clear cell carcinoma(1967;0.00374)|STAD - Stomach adenocarcinoma(196;0.00918)|READ - Rectum adenocarcinoma(331;0.0656)|Lung(427;0.0853)|LUSC - Lung squamous cell carcinoma(448;0.185) AGGGGCCAGACGGGGCCTCCC 0.612 C1orf177 163747 broad.mit.edu 37 1 55273597 55273597 + Missense_Mutation SNP A T T TCGA-12-0615-01A-01D-1492-08 TCGA-12-0615-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx a6068793-51e4-4762-9150-cdfb030e8ade c90ff476-f8e2-41b0-977d-fb36577427f4 g.chr1:55273597A>T uc001cyb.3 + 4 447 c.393A>T c.(391-393)AAA>AAT p.K131N C1orf177_uc001cya.3_Missense_Mutation_p.K131N NM_001110533 NP_001104003 Q3ZCV2 CA177_HUMAN hypothetical protein LOC163747 isoform 2 131 0 ACAACCTCAAAGACTTCTTAG 0.547 CELSR2 1952 broad.mit.edu 37 1 109801473 109801473 + Missense_Mutation SNP G A A TCGA-12-0615-01A-01D-1492-08 TCGA-12-0615-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx a6068793-51e4-4762-9150-cdfb030e8ade c90ff476-f8e2-41b0-977d-fb36577427f4 g.chr1:109801473G>A uc001dxa.3 + 2 3791 c.3730G>A c.(3730-3732)GTG>ATG p.V1244M NM_001408 NP_001399 Q9HCU4 CELR2_HUMAN cadherin EGF LAG seven-pass G-type receptor 2 1244 EGF-like 1; calcium-binding.|Extracellular (Potential). dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway cytoplasm|integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity|protein binding ovary(4)|lung(3)|skin(1) 8 all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244) Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219) CATGCGCTGCGTGTCGGTGCT 0.692 MOV10 4343 broad.mit.edu 37 1 113239252 113239252 + Missense_Mutation SNP G A A TCGA-12-0615-01A-01D-1492-08 TCGA-12-0615-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx a6068793-51e4-4762-9150-cdfb030e8ade c90ff476-f8e2-41b0-977d-fb36577427f4 g.chr1:113239252G>A uc001eck.2 + 14 2252 c.1982G>A c.(1981-1983)GGG>GAG p.G661E MOV10_uc001ecl.2_Intron|MOV10_uc001ecn.2_Missense_Mutation_p.G661E|MOV10_uc001ecm.2_Missense_Mutation_p.G601E NM_001130079 NP_001123551 Q9HCE1 MOV10_HUMAN Mov10, Moloney leukemia virus 10, homolog 661 mRNA cleavage involved in gene silencing by miRNA|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasmic mRNA processing body ATP binding|helicase activity|protein binding|RNA binding ovary(4)|skin(1) 5 Lung SC(450;0.246) all_cancers(81;3.31e-11)|all_epithelial(167;5.69e-10)|all_lung(203;3.73e-05)|Breast(1374;0.000525)|Lung NSC(69;0.000954)|Ovarian(761;0.0367)|Lung SC(238;0.114) OV - Ovarian serous cystadenocarcinoma(397;3.99e-67)|all cancers(265;1e-62)|Epithelial(280;4.78e-61)|Lung(183;0.0234)|Colorectal(144;0.0686)|READ - Rectum adenocarcinoma(129;0.0929)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|BRCA - Breast invasive adenocarcinoma(282;0.24) TGCTTCCCAGGGCTGATGGAA 0.602 TCHHL1 126637 broad.mit.edu 37 1 152060548 152060548 + Silent SNP G A A TCGA-12-0615-01A-01D-1492-08 TCGA-12-0615-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx a6068793-51e4-4762-9150-cdfb030e8ade c90ff476-f8e2-41b0-977d-fb36577427f4 g.chr1:152060548G>A uc001ezo.1 - 2 137 c.72C>T c.(70-72)AAC>AAT p.N24N NM_001008536 NP_001008536 Q5QJ38 TCHL1_HUMAN trichohyalin-like 1 24 calcium ion binding ovary(1)|skin(1) 2 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.246) GTGTTGCCCCGTTACTGTCCT 0.473 FLG 2312 broad.mit.edu 37 1 152278705 152278705 + Missense_Mutation SNP C T T TCGA-12-0615-01A-01D-1492-08 TCGA-12-0615-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx a6068793-51e4-4762-9150-cdfb030e8ade c90ff476-f8e2-41b0-977d-fb36577427f4 g.chr1:152278705C>T uc001ezu.1 - 3 8693 c.8657G>A c.(8656-8658)CGC>CAC p.R2886H NM_002016 NP_002007 P20930 FILA_HUMAN filaggrin 2886 Ser-rich.|Filaggrin 17. keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity ovary(9)|skin(4)|upper_aerodigestive_tract(3) 16 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) GGATCCCTGGCGCCTGCTTCT 0.562 Ichthyosis KPRP 448834 broad.mit.edu 37 1 152733665 152733665 + Missense_Mutation SNP G T T TCGA-12-0615-01A-01D-1492-08 TCGA-12-0615-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx a6068793-51e4-4762-9150-cdfb030e8ade c90ff476-f8e2-41b0-977d-fb36577427f4 g.chr1:152733665G>T uc001fal.1 + 2 1659 c.1601G>T c.(1600-1602)AGT>ATT p.S534I NM_001025231 NP_001020402 Q5T749 KPRP_HUMAN keratinocyte proline-rich protein 534 cytoplasm ovary(4)|pancreas(1) 5 Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.206) GGCCCATCCAGTTACAACCAG 0.582 DDR2 4921 broad.mit.edu 37 1 162749984 162749984 + Missense_Mutation SNP G A A TCGA-12-0615-01A-01D-1492-08 TCGA-12-0615-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx a6068793-51e4-4762-9150-cdfb030e8ade c90ff476-f8e2-41b0-977d-fb36577427f4 g.chr1:162749984G>A uc001gcf.2 + 19 2981 c.2516G>A c.(2515-2517)CGT>CAT p.R839H DDR2_uc001gcg.2_Missense_Mutation_p.R839H|uc001gch.1_5'Flank NM_001014796 NP_001014796 Q16832 DDR2_HUMAN discoidin domain receptor family, member 2 839 Cytoplasmic (Potential).|Protein kinase. cell adhesion integral to plasma membrane ATP binding|transmembrane receptor protein tyrosine kinase activity lung(2)|central_nervous_system(2)|ovary(1)|kidney(1) 6 all_hematologic(112;0.115) BRCA - Breast invasive adenocarcinoma(70;0.113) ACGAAGAACCGTCCCTCATTC 0.498 KIFAP3 22920 broad.mit.edu 37 1 170007466 170007466 + Missense_Mutation SNP C T T TCGA-12-0615-01A-01D-1492-08 TCGA-12-0615-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx a6068793-51e4-4762-9150-cdfb030e8ade c90ff476-f8e2-41b0-977d-fb36577427f4 g.chr1:170007466C>T uc001ggv.2 - 5 753 c.482G>A c.(481-483)CGA>CAA p.R161Q KIFAP3_uc010ply.1_Missense_Mutation_p.R83Q|KIFAP3_uc001ggw.1_Missense_Mutation_p.R117Q NM_014970 NP_055785 Q92845 KIFA3_HUMAN kinesin-associated protein 3 161 blood coagulation|plus-end-directed vesicle transport along microtubule|protein complex assembly|signal transduction centrosome|condensed nuclear chromosome|cytosol|endoplasmic reticulum|kinesin II complex|spindle microtubule kinesin binding skin(1) 1 all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181) ATCAGGATTTCGAGCAAGCTG 0.308 FAM5B 57795 broad.mit.edu 37 1 177199272 177199272 + Missense_Mutation SNP G A A TCGA-12-0615-01A-01D-1492-08 TCGA-12-0615-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx a6068793-51e4-4762-9150-cdfb030e8ade c90ff476-f8e2-41b0-977d-fb36577427f4 g.chr1:177199272G>A uc001glf.2 + 2 572 c.260G>A c.(259-261)AGG>AAG p.R87K NM_021165 NP_066988 Q9C0B6 FAM5B_HUMAN family with sequence similarity 5, member B 87 extracellular region skin(3)|ovary(2)|upper_aerodigestive_tract(1) 6 ACCAGGTACAGGATTTATAGG 0.612 FAM13C 220965 broad.mit.edu 37 10 61023889 61023889 + Missense_Mutation SNP A G G TCGA-12-0615-01A-01D-1492-08 TCGA-12-0615-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx a6068793-51e4-4762-9150-cdfb030e8ade c90ff476-f8e2-41b0-977d-fb36577427f4 g.chr10:61023889A>G uc001jkn.2 - 10 1114 c.980T>C c.(979-981)CTG>CCG p.L327P FAM13C_uc001jko.2_Intron|FAM13C_uc010qid.1_Missense_Mutation_p.L244P|FAM13C_uc010qie.1_Missense_Mutation_p.L244P|FAM13C_uc010qif.1_Missense_Mutation_p.L349P|FAM13C_uc001jkp.2_Missense_Mutation_p.L244P NM_198215 NP_937858 Q8NE31 FA13C_HUMAN hypothetical protein LOC220965 isoform 1 327 ovary(2) 2 CATCCATTTCAGGACTTCAGG 0.289 DCHS1 8642 broad.mit.edu 37 11 6655171 6655171 + Missense_Mutation SNP C G G TCGA-12-0615-01A-01D-1492-08 TCGA-12-0615-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx a6068793-51e4-4762-9150-cdfb030e8ade c90ff476-f8e2-41b0-977d-fb36577427f4 g.chr11:6655171C>G uc001mem.1 - 4 2477 c.2067G>C c.(2065-2067)GAG>GAC p.E689D NM_003737 NP_003728 Q96JQ0 PCD16_HUMAN dachsous 1 precursor 689 Cadherin 7.|Extracellular (Potential). calcium-dependent cell-cell adhesion|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(3)|large_intestine(1)|pancreas(1) 5 Medulloblastoma(188;0.00263)|all_neural(188;0.026) Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) TGGCAGCATACTCCCGTGGAT 0.557 WT1 7490 broad.mit.edu 37 11 32450114 32450114 + Missense_Mutation SNP G A A TCGA-12-0615-01A-01D-1492-08 TCGA-12-0615-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx a6068793-51e4-4762-9150-cdfb030e8ade c90ff476-f8e2-41b0-977d-fb36577427f4 g.chr11:32450114G>A uc001mtn.1 - 2 894 c.698C>T c.(697-699)TCG>TTG p.S233L WT1_uc001mtl.1_Missense_Mutation_p.S21L|WT1_uc001mtm.1_Missense_Mutation_p.S21L|WT1_uc001mto.1_Missense_Mutation_p.S233L|WT1_uc001mtp.1_Missense_Mutation_p.S233L|WT1_uc001mtq.1_Missense_Mutation_p.S233L|WT1_uc009yjs.1_RNA NM_024426 NP_077744 P19544 WT1_HUMAN Wilms tumor 1 isoform D 165 adrenal cortex formation|branching involved in ureteric bud morphogenesis|camera-type eye development|cardiac muscle cell fate commitment|cellular response to cAMP|cellular response to gonadotropin stimulus|germ cell development|glomerular basement membrane development|glomerular visceral epithelial cell differentiation|induction of apoptosis|male genitalia development|male gonad development|mesenchymal to epithelial transition|metanephric epithelium development|metanephric S-shaped body morphogenesis|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of female gonad development|negative regulation of metanephric glomerular mesangial cell proliferation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|negative regulation of translation|positive regulation of male gonad development|positive regulation of transcription, DNA-dependent|posterior mesonephric tubule development|regulation of organ formation|RNA splicing|sex determination|vasculogenesis|visceral serous pericardium development cytoplasm|nuclear speck|nucleoplasm C2H2 zinc finger domain binding|RNA binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding EWSR1/WT1(231) haematopoietic_and_lymphoid_tissue(318)|soft_tissue(231)|kidney(132)|pleura(2)|lung(2)|upper_aerodigestive_tract(1)|peritoneum(1) 687 Breast(20;0.247) OV - Ovarian serous cystadenocarcinoma(30;0.128) CGCATGGTGCGAGGGCGTGTG 0.632 D|Mis|N|F|S EWSR1 Wilms|desmoplastic small round cell tumor Wilms Denys-Drash_syndrome|Frasier_syndrome|Familial_Wilms_tumor|Wilms_tumor-Aniridia-ambiguous_Genitals-mental_Retardation SLC22A25 387601 broad.mit.edu 37 11 62948177 62948177 + Missense_Mutation SNP C T T TCGA-12-0615-01A-01D-1492-08 TCGA-12-0615-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx a6068793-51e4-4762-9150-cdfb030e8ade c90ff476-f8e2-41b0-977d-fb36577427f4 g.chr11:62948177C>T uc001nwr.1 - 6 1025 c.1025G>A c.(1024-1026)CGC>CAC p.R342H SLC22A10_uc010rmo.1_Intron|SLC22A25_uc009yoq.1_RNA|SLC22A25_uc001nws.1_RNA|SLC22A25_uc001nwt.1_Missense_Mutation_p.R342H NM_199352 NP_955384 Q6T423 S22AP_HUMAN putative UST1-like organic anion transporter 342 Cytoplasmic (Potential). transmembrane transport integral to membrane ovary(3)|skin(1) 4 GTTGGGTATGCGGAGCAATTC 0.383 ARAP1 116985 broad.mit.edu 37 11 72423533 72423533 + Silent SNP G A A TCGA-12-0615-01A-01D-1492-08 TCGA-12-0615-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx a6068793-51e4-4762-9150-cdfb030e8ade c90ff476-f8e2-41b0-977d-fb36577427f4 g.chr11:72423533G>A uc001osu.2 - 6 1017 c.828C>T c.(826-828)GAC>GAT p.D276D ARAP1_uc001osv.2_Silent_p.D276D|ARAP1_uc001osr.2_Silent_p.D36D|ARAP1_uc001oss.2_Silent_p.D31D|ARAP1_uc009yth.2_Silent_p.D31D|ARAP1_uc010rre.1_Silent_p.D31D NM_001040118 NP_001035207 Q96P48 ARAP1_HUMAN ArfGAP with RhoGAP domain, ankyrin repeat and PH 276 actin filament reorganization involved in cell cycle|negative regulation of stress fiber assembly|positive regulation of Cdc42 GTPase activity|positive regulation of filopodium assembly|regulation of ARF GTPase activity|regulation of cell shape|regulation of cellular component movement|small GTPase mediated signal transduction cytosol|Golgi cisterna membrane|plasma membrane ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|protein binding|Rho GTPase activator activity|zinc ion binding skin(1) 1 CCCCTTGGTCGTCCCCAGACA 0.682 PRCP 5547 broad.mit.edu 37 11 82564244 82564244 + Missense_Mutation SNP A G G TCGA-12-0615-01A-01D-1492-08 TCGA-12-0615-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx a6068793-51e4-4762-9150-cdfb030e8ade c90ff476-f8e2-41b0-977d-fb36577427f4 g.chr11:82564244A>G uc001ozs.2 - 3 499 c.386T>C c.(385-387)CTC>CCC p.L129P PRCP_uc001ozr.2_Missense_Mutation_p.L150P NM_005040 NP_005031 P42785 PCP_HUMAN prolylcarboxypeptidase isoform 1 preproprotein 129 blood coagulation, intrinsic pathway|proteolysis lysosome|plasma membrane protein binding|serine-type carboxypeptidase activity skin(1) 1 ACCAAAGGGGAGAGACTCTCC 0.363 TMEM19 55266 broad.mit.edu 37 12 72092727 72092727 + Missense_Mutation SNP G A A TCGA-12-0615-01A-01D-1492-08 TCGA-12-0615-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx a6068793-51e4-4762-9150-cdfb030e8ade c90ff476-f8e2-41b0-977d-fb36577427f4 g.chr12:72092727G>A uc001sws.2 + 5 1268 c.685G>A c.(685-687)GGT>AGT p.G229S TMEM19_uc001swr.1_Missense_Mutation_p.G215S|TMEM19_uc009zru.1_RNA NM_018279 NP_060749 Q96HH6 TMM19_HUMAN transmembrane protein 19 229 Helical; (Potential). integral to membrane 0 Breast(359;0.0889) GBM - Glioblastoma multiforme(134;0.044) CAGTCTCCTTGGTGGTACCTT 0.443 SOCS2 8835 broad.mit.edu 37 12 93968661 93968661 + Silent SNP C T T rs148086876 TCGA-12-0615-01A-01D-1492-08 TCGA-12-0615-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx a6068793-51e4-4762-9150-cdfb030e8ade c90ff476-f8e2-41b0-977d-fb36577427f4 g.chr12:93968661C>T uc001tcw.1 + 3 893 c.303C>T c.(301-303)GAC>GAT p.D101D SOCS2_uc001tcx.1_Silent_p.D101D|SOCS2_uc009zsu.2_3'UTR|SOCS2_uc001tcy.1_Silent_p.D101D|SOCS2_uc001tcz.2_3'UTR NM_003877 NP_003868 O14508 SOCS2_HUMAN suppressor of cytokine signaling-2 101 SH2. anti-apoptosis|growth hormone receptor signaling pathway|JAK-STAT cascade|negative regulation of signal transduction|regulation of cell growth|response to estradiol stimulus cytoplasm growth hormone receptor binding|insulin-like growth factor receptor binding|JAK pathway signal transduction adaptor activity|prolactin receptor binding|SH3/SH2 adaptor activity lung(1) 1 AATACCAAGACGGAAAATTCA 0.378 RIC8B 55188 broad.mit.edu 37 12 107208579 107208579 + Missense_Mutation SNP T G G TCGA-12-0615-01A-01D-1492-08 TCGA-12-0615-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx a6068793-51e4-4762-9150-cdfb030e8ade c90ff476-f8e2-41b0-977d-fb36577427f4 g.chr12:107208579T>G uc001tlx.2 + 3 363 c.238T>G c.(238-240)TTA>GTA p.L80V RIC8B_uc001tlw.2_Missense_Mutation_p.L80V|RIC8B_uc001tly.2_Missense_Mutation_p.L40V|RIC8B_uc001tlz.2_RNA NM_018157 NP_060627 Q9NVN3 RIC8B_HUMAN resistance to inhibitors of cholinesterase 8 80 regulation of G-protein coupled receptor protein signaling pathway cell cortex|cytosol|plasma membrane G-protein alpha-subunit binding|guanyl-nucleotide exchange factor activity ovary(1) 1 CAAAAAGGTTTTAGTTCCTGT 0.413 MLXIP 22877 broad.mit.edu 37 12 122613736 122613736 + Missense_Mutation SNP G A A TCGA-12-0615-01A-01D-1492-08 TCGA-12-0615-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx a6068793-51e4-4762-9150-cdfb030e8ade c90ff476-f8e2-41b0-977d-fb36577427f4 g.chr12:122613736G>A uc001ubq.2 + 4 659 c.659G>A c.(658-660)CGG>CAG p.R220Q MLXIP_uc001ubr.2_5'UTR|MLXIP_uc001ubs.1_5'Flank NM_014938 NP_055753 Q9HAP2 MLXIP_HUMAN MLX interacting protein 220 Required for cytoplasmic localization. regulation of transcription, DNA-dependent|transcription, DNA-dependent mitochondrial outer membrane|nucleus DNA binding ovary(2) 2 all_neural(191;0.0837)|Medulloblastoma(191;0.163) Lung NSC(355;0.0659) OV - Ovarian serous cystadenocarcinoma(86;0.000599)|Epithelial(86;0.00102)|BRCA - Breast invasive adenocarcinoma(302;0.233) ATTGTGATCCGGGAGTATCAC 0.557 NUBP1 4682 broad.mit.edu 37 16 10837884 10837884 + Missense_Mutation SNP G A A TCGA-12-0615-01A-01D-1492-08 TCGA-12-0615-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx a6068793-51e4-4762-9150-cdfb030e8ade c90ff476-f8e2-41b0-977d-fb36577427f4 g.chr16:10837884G>A uc002daa.1 + 2 109 c.86G>A c.(85-87)CGG>CAG p.R29Q NUBP1_uc010bum.1_5'UTR|NUBP1_uc002dab.1_Missense_Mutation_p.R29Q NM_002484 NP_002475 P53384 NUBP1_HUMAN nucleotide binding protein 1 29 cell growth|cellular iron ion homeostasis|iron-sulfur cluster assembly cytosol 4 iron, 4 sulfur cluster binding|ATP binding|metal ion binding|nucleoside-triphosphatase activity|protein binding ovary(1)|skin(1) 2 CCCAACCAGCGGCTGTGCGCT 0.657 ANKRD11 29123 broad.mit.edu 37 16 89341552 89341552 + Silent SNP C T T TCGA-12-0615-01A-01D-1492-08 TCGA-12-0615-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx a6068793-51e4-4762-9150-cdfb030e8ade c90ff476-f8e2-41b0-977d-fb36577427f4 g.chr16:89341552C>T uc002fmx.1 - 10 7979 c.7518G>A c.(7516-7518)AGG>AGA p.R2506R ANKRD11_uc002fmy.1_Silent_p.R2506R NM_013275 NP_037407 Q6UB99 ANR11_HUMAN ankyrin repeat domain 11 2506 nucleus ovary(4)|large_intestine(1)|central_nervous_system(1) 6 all_hematologic(23;0.00824)|Colorectal(91;0.0475) Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142) CCTCCTGCTGCCTGAACAGCT 0.662 C17orf74 201243 broad.mit.edu 37 17 7330635 7330635 + Missense_Mutation SNP C T T TCGA-12-0615-01A-01D-1492-08 TCGA-12-0615-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx a6068793-51e4-4762-9150-cdfb030e8ade c90ff476-f8e2-41b0-977d-fb36577427f4 g.chr17:7330635C>T uc002ggw.2 + 3 1398 c.1325C>T c.(1324-1326)CCG>CTG p.P442L FGF11_uc010vtw.1_Intron NM_175734 NP_783861 Q0P670 CQ074_HUMAN hypothetical protein LOC201243 442 integral to membrane 0 Prostate(122;0.157) GCCCCTCCCCCGACCATGTTT 0.647 PIK3R5 23533 broad.mit.edu 37 17 8792082 8792082 + Missense_Mutation SNP G A A TCGA-12-0615-01A-01D-1492-08 TCGA-12-0615-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx a6068793-51e4-4762-9150-cdfb030e8ade c90ff476-f8e2-41b0-977d-fb36577427f4 g.chr17:8792082G>A uc002glt.2 - 10 1089 c.1022C>T c.(1021-1023)GCC>GTC p.A341V PIK3R5_uc010vuz.1_Missense_Mutation_p.A341V|PIK3R5_uc002glu.3_5'UTR|PIK3R5_uc010coa.1_Missense_Mutation_p.P290S|PIK3R5_uc010cob.1_5'UTR NM_014308 NP_055123 Q8WYR1 PI3R5_HUMAN phosphoinositide-3-kinase, regulatory subunit 5 341 DILQEILLKEQELLQPGILGDDEEEEEEEEEVEEDLETDGH CAERDSLLSTSSLASHDSTLSLASSQASG -> GNIEGDPG PRRPDSAGLASLQTSCRKSCSRNRSYSSQGSWEMMKRRERR RRRWRRTWKLTGTVPREIPCS (in Ref. 6; AAW63121). platelet activation cytosol|membrane|nucleus breast(2)|large_intestine(1)|central_nervous_system(1)|skin(1) 5 ATCTCTCTCGGCACAGTGCCC 0.502 FBXW10 10517 broad.mit.edu 37 17 18651317 18651317 + Missense_Mutation SNP C T T TCGA-12-0615-01A-01D-1492-08 TCGA-12-0615-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx a6068793-51e4-4762-9150-cdfb030e8ade c90ff476-f8e2-41b0-977d-fb36577427f4 g.chr17:18651317C>T uc002guk.2 + 2 801 c.569C>T c.(568-570)GCG>GTG p.A190V FBXW10_uc002guj.2_Missense_Mutation_p.A190V|FBXW10_uc002gul.2_Missense_Mutation_p.A190V|FBXW10_uc010cqh.1_Missense_Mutation_p.A190V NM_031456 NP_113644 Q5XX13 FBW10_HUMAN F-box and WD-40 domain protein 10 190 WD 1. ovary(1) 1 TCCAAGTCTGCGACCTCACAA 0.478 PIPOX 51268 broad.mit.edu 37 17 27380567 27380567 + Missense_Mutation SNP G C C TCGA-12-0615-01A-01D-1492-08 TCGA-12-0615-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx a6068793-51e4-4762-9150-cdfb030e8ade c90ff476-f8e2-41b0-977d-fb36577427f4 g.chr17:27380567G>C uc002hdr.1 + 4 940 c.614G>C c.(613-615)TGG>TCG p.W205S NM_016518 NP_057602 Q9P0Z9 SOX_HUMAN pipecolic acid oxidase 205 tetrahydrofolate metabolic process peroxisome L-pipecolate oxidase activity|sarcosine oxidase activity 0 Lung NSC(42;0.015) Epithelial(11;9.87e-06)|BRCA - Breast invasive adenocarcinoma(11;3.92e-05)|all cancers(11;5.59e-05)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031) Glycine(DB00145) GCAGGTCCTTGGACCAACCAG 0.517 LRRC37B2 147172 broad.mit.edu 37 17 28961033 28961033 + Missense_Mutation SNP T G G TCGA-12-0615-01A-01D-1492-08 TCGA-12-0615-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx a6068793-51e4-4762-9150-cdfb030e8ade c90ff476-f8e2-41b0-977d-fb36577427f4 g.chr17:28961033T>G uc002hfl.3 + 5 727 c.496T>G c.(496-498)TAT>GAT p.Y166D LRRC37B2_uc010csj.1_Intron|LRRC37B2_uc010wbq.1_RNA|LRRC37B2_uc010csi.2_RNA RecName: Full=Putative LRRC37B-like protein 2; 0 AGTTCCAGGATATGACTATAA 0.249 SLC35B1 10237 broad.mit.edu 37 17 47780551 47780551 + Missense_Mutation SNP T C C TCGA-12-0615-01A-01D-1492-08 TCGA-12-0615-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx a6068793-51e4-4762-9150-cdfb030e8ade c90ff476-f8e2-41b0-977d-fb36577427f4 g.chr17:47780551T>C uc002iph.1 - 7 848 c.761A>G c.(760-762)CAG>CGG p.Q254R SLC35B1_uc002ipi.1_Missense_Mutation_p.Q187R|SLC35B1_uc002ipj.1_Missense_Mutation_p.Q130R NM_005827 NP_005818 P78383 S35B1_HUMAN solute carrier family 35, member B1 254 Helical; (Potential). endoplasmic reticulum membrane|integral to membrane|microsome UDP-galactose transmembrane transporter activity 0 AGCACTCACCTGACCCAGGGC 0.547 KCNH6 81033 broad.mit.edu 37 17 61613122 61613122 + Silent SNP G A A TCGA-12-0615-01A-01D-1492-08 TCGA-12-0615-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx a6068793-51e4-4762-9150-cdfb030e8ade c90ff476-f8e2-41b0-977d-fb36577427f4 g.chr17:61613122G>A uc002jay.2 + 6 1274 c.1194G>A c.(1192-1194)GCG>GCA p.A398A KCNH6_uc002jax.1_Silent_p.A398A|KCNH6_uc010wpl.1_Silent_p.A275A|KCNH6_uc010wpm.1_Silent_p.A398A|KCNH6_uc002jaz.1_Silent_p.A398A NM_030779 NP_110406 Q9H252 KCNH6_HUMAN potassium voltage-gated channel, subfamily H, 398 Cytoplasmic (Potential). regulation of transcription, DNA-dependent|signal transduction skin(1) 1 Ibutilide(DB00308) AGTATGGGGCGGCTGTGCTCT 0.617 TMEM105 284186 broad.mit.edu 37 17 79287573 79287573 + Missense_Mutation SNP C T T TCGA-12-0615-01A-01D-1492-08 TCGA-12-0615-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx a6068793-51e4-4762-9150-cdfb030e8ade c90ff476-f8e2-41b0-977d-fb36577427f4 g.chr17:79287573C>T uc002kad.1 - 3 818 c.268G>A c.(268-270)GGG>AGG p.G90R NM_178520 NP_848615 Q8N8V8 TM105_HUMAN transmembrane protein 105 90 integral to membrane ovary(1) 1 all_neural(118;0.0804)|Melanoma(429;0.242) BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.0892) CCAGACTGCCCCCAGGCAGGC 0.662 LAMA1 284217 broad.mit.edu 37 18 7010303 7010303 + Missense_Mutation SNP G C C TCGA-12-0615-01A-01D-1492-08 TCGA-12-0615-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx a6068793-51e4-4762-9150-cdfb030e8ade c90ff476-f8e2-41b0-977d-fb36577427f4 g.chr18:7010303G>C uc002knm.2 - 26 3863 c.3769C>G c.(3769-3771)CAA>GAA p.Q1257E LAMA1_uc010wzj.1_Missense_Mutation_p.Q733E NM_005559 NP_005550 P25391 LAMA1_HUMAN laminin, alpha 1 precursor 1257 Laminin IV type A 2. axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development extracellular space|laminin-1 complex|laminin-3 complex extracellular matrix structural constituent|receptor binding ovary(8)|large_intestine(4)|upper_aerodigestive_tract(2)|breast(2)|skin(2)|pancreas(2)|central_nervous_system(1) 21 Colorectal(10;0.172) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) ATGAGAACTTGAGGCTCAAAA 0.463 MIDN 90007 broad.mit.edu 37 19 1250466 1250466 + Silent SNP C G G TCGA-12-0615-01A-01D-1492-08 TCGA-12-0615-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx a6068793-51e4-4762-9150-cdfb030e8ade c90ff476-f8e2-41b0-977d-fb36577427f4 g.chr19:1250466C>G uc002lrp.2 + 2 686 c.171C>G c.(169-171)CGC>CGG p.R57R NM_177401 NP_796375 Q504T8 MIDN_HUMAN midnolin 57 Ubiquitin-like. nucleolus 0 Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|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) AGGGGCTGCGCAAGCGGTTGT 0.493 RAVER1 125950 broad.mit.edu 37 19 10444148 10444148 + Silent SNP C T T TCGA-12-0615-01A-01D-1492-08 TCGA-12-0615-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx a6068793-51e4-4762-9150-cdfb030e8ade c90ff476-f8e2-41b0-977d-fb36577427f4 g.chr19:10444148C>T uc002moa.2 - 1 167 c.87G>A c.(85-87)CCG>CCA p.P29P NM_133452 NP_597709 Q8IY67 RAVR1_HUMAN RAVER1 12 cytoplasm|nucleus nucleotide binding|protein binding|RNA binding ovary(1) 1 OV - Ovarian serous cystadenocarcinoma(20;1.81e-09)|Epithelial(33;3.65e-06)|all cancers(31;8.35e-06) TAGGGCTCAGCGGGGGCCGGT 0.692 USHBP1 83878 broad.mit.edu 37 19 17366376 17366376 + Missense_Mutation SNP G A A TCGA-12-0615-01A-01D-1492-08 TCGA-12-0615-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx a6068793-51e4-4762-9150-cdfb030e8ade c90ff476-f8e2-41b0-977d-fb36577427f4 g.chr19:17366376G>A uc002nfs.1 - 10 1623 c.1510C>T c.(1510-1512)CGG>TGG p.R504W USHBP1_uc002nfr.1_Missense_Mutation_p.R130W|USHBP1_uc002nft.1_RNA|USHBP1_uc010xpk.1_Missense_Mutation_p.R440W NM_031941 NP_114147 Q8N6Y0 USBP1_HUMAN Usher syndrome 1C binding protein 1 504 Potential. PDZ domain binding ovary(1) 1 TTCTCACGCCGCACCAGCTGC 0.647 DUXA 503835 broad.mit.edu 37 19 57669765 57669766 + Frame_Shift_Ins INS - T T TCGA-12-0615-01A-01D-1492-08 TCGA-12-0615-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx a6068793-51e4-4762-9150-cdfb030e8ade c90ff476-f8e2-41b0-977d-fb36577427f4 g.chr19:57669765_57669766insT uc002qoa.1 - 4 413_414 c.368_369insA c.(367-369)AACfs p.N123fs NM_001012729 NP_001012747 A6NLW8 DUXA_HUMAN double homeobox A 123 Homeobox 2. nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity ovary(1) 1 Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0123) CAGGATATGGGTTTTTCATAAA 0.470 ZAP70 7535 broad.mit.edu 37 2 98354224 98354224 + Missense_Mutation SNP G A A rs150631046 TCGA-12-0615-01A-01D-1492-08 TCGA-12-0615-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx a6068793-51e4-4762-9150-cdfb030e8ade c90ff476-f8e2-41b0-977d-fb36577427f4 g.chr2:98354224G>A uc002syd.1 + 12 1694 c.1487G>A c.(1486-1488)CGC>CAC p.R496H ZAP70_uc002sye.1_Missense_Mutation_p.R386H|ZAP70_uc002syf.1_Missense_Mutation_p.R189H NM_001079 NP_001070 P43403 ZAP70_HUMAN zeta-chain associated protein kinase 70kDa 496 Protein kinase. immune response|intracellular protein kinase cascade|positive thymic T cell selection|T cell receptor signaling pathway cytosol|T cell receptor complex ATP binding|non-membrane spanning protein tyrosine kinase activity lung(4)|upper_aerodigestive_tract(1)|ovary(1) 6 CCCCAGGCCCGCTCAGCAGGG 0.627 SCN7A 6332 broad.mit.edu 37 2 167262324 167262324 + Silent SNP T C C TCGA-12-0615-01A-01D-1492-08 TCGA-12-0615-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx a6068793-51e4-4762-9150-cdfb030e8ade c90ff476-f8e2-41b0-977d-fb36577427f4 g.chr2:167262324T>C uc002udu.1 - 25 4942 c.4815A>G c.(4813-4815)TTA>TTG p.L1605L NM_002976 NP_002967 Q01118 SCN7A_HUMAN sodium channel, voltage-gated, type VII, alpha 1605 muscle contraction voltage-gated sodium channel complex voltage-gated sodium channel activity large_intestine(1) 1 AAGGGTTGGCTAACAAAAACC 0.368 DNAH7 56171 broad.mit.edu 37 2 196741332 196741332 + Missense_Mutation SNP A G G TCGA-12-0615-01A-01D-1492-08 TCGA-12-0615-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx a6068793-51e4-4762-9150-cdfb030e8ade c90ff476-f8e2-41b0-977d-fb36577427f4 g.chr2:196741332A>G uc002utj.3 - 37 6154 c.6053T>C c.(6052-6054)ATT>ACT p.I2018T NM_018897 NP_061720 Q8WXX0 DYH7_HUMAN dynein, axonemal, heavy chain 7 2018 AAA 3 (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity skin(10)|ovary(2) 12 TGACATGACAATATTCTGAGT 0.363 AAMP 14 broad.mit.edu 37 2 219131281 219131281 + Silent SNP G A A TCGA-12-0615-01A-01D-1492-08 TCGA-12-0615-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx a6068793-51e4-4762-9150-cdfb030e8ade c90ff476-f8e2-41b0-977d-fb36577427f4 g.chr2:219131281G>A uc002vhk.2 - 5 648 c.564C>T c.(562-564)GTC>GTT p.V188V AAMP_uc002vhj.2_Silent_p.V169V|AAMP_uc010fvo.2_Silent_p.V188V|AAMP_uc002vhl.2_Silent_p.V189V NM_001087 NP_001078 Q13685 AAMP_HUMAN angio-associated, migratory cell protein 188 WD 3. angiogenesis|cell differentiation|positive regulation of endothelial cell migration|smooth muscle cell migration cell surface|cytoplasm|plasma membrane heparin binding ovary(1) 1 Renal(207;0.0474) Epithelial(149;7.19e-07)|all cancers(144;0.000131)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) CCGCCAACAGGACAGGTGCCC 0.642 PROKR2 128674 broad.mit.edu 37 20 5282952 5282952 + Missense_Mutation SNP C T T rs139399061 byFrequency TCGA-12-0615-01A-01D-1492-08 TCGA-12-0615-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx a6068793-51e4-4762-9150-cdfb030e8ade c90ff476-f8e2-41b0-977d-fb36577427f4 g.chr20:5282952C>T uc010zqw.1 - 2 889 c.889G>A c.(889-891)GTT>ATT p.V297I PROKR2_uc010zqx.1_Missense_Mutation_p.V297I|PROKR2_uc010zqy.1_Missense_Mutation_p.V297I NM_144773 NP_658986 Q8NFJ6 PKR2_HUMAN prokineticin receptor 2 297 Extracellular (Potential). integral to membrane|plasma membrane neuropeptide Y receptor activity ovary(3)|central_nervous_system(1)|pancreas(1) 5 AAGTCACGAACGATGGTGAAA 0.562 HNSCC(71;0.22) PCSK2 5126 broad.mit.edu 37 20 17389925 17389925 + Silent SNP C T T rs139215444 byFrequency TCGA-12-0615-01A-01D-1492-08 TCGA-12-0615-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx a6068793-51e4-4762-9150-cdfb030e8ade c90ff476-f8e2-41b0-977d-fb36577427f4 g.chr20:17389925C>T uc002wpm.2 + 6 881 c.561C>T c.(559-561)TAC>TAT p.Y187Y PCSK2_uc002wpl.2_Silent_p.Y168Y|PCSK2_uc010zrm.1_Silent_p.Y152Y NM_002594 NP_002585 P16519 NEC2_HUMAN proprotein convertase subtilisin/kexin type 2 187 Catalytic. enkephalin processing|insulin processing|islet amyloid polypeptide processing extracellular space|membrane|soluble fraction|transport vesicle serine-type endopeptidase activity ovary(3)|central_nervous_system(2)|large_intestine(1)|pancreas(1) 7 Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071) AAGCAAGTTACGACTTCAGCA 0.483 OPRL1 4987 broad.mit.edu 37 20 62729348 62729348 + Missense_Mutation SNP G A A TCGA-12-0615-01A-01D-1492-08 TCGA-12-0615-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx a6068793-51e4-4762-9150-cdfb030e8ade c90ff476-f8e2-41b0-977d-fb36577427f4 g.chr20:62729348G>A uc002yic.2 + 4 829 c.427G>A c.(427-429)GCC>ACC p.A143T OPRL1_uc002yid.2_Missense_Mutation_p.A143T|OPRL1_uc002yif.3_Missense_Mutation_p.A138T NM_182647 NP_872588 P41146 OPRX_HUMAN opiate receptor-like 1 143 Helical; Name=3; (Potential). elevation of cytosolic calcium ion concentration|inhibition of adenylate cyclase activity by G-protein signaling pathway|sensory perception integral to plasma membrane protein binding|X-opioid receptor activity central_nervous_system(1)|skin(1) 2 all_cancers(38;4.74e-11)|all_epithelial(29;1.33e-12)|Lung NSC(23;3.27e-09)|all_lung(23;1.02e-08) CACCCTAACTGCCATGAGTGT 0.572 TMPRSS15 5651 broad.mit.edu 37 21 19775931 19775931 + Silent SNP C T T TCGA-12-0615-01A-01D-1492-08 TCGA-12-0615-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx a6068793-51e4-4762-9150-cdfb030e8ade c90ff476-f8e2-41b0-977d-fb36577427f4 g.chr21:19775931C>T uc002ykw.2 - 1 40 c.9G>A c.(7-9)TCG>TCA p.S3S NM_002772 NP_002763 P98073 ENTK_HUMAN enterokinase precursor 3 Cytoplasmic (Potential). proteolysis brush border|integral to membrane scavenger receptor activity|serine-type endopeptidase activity ovary(5)|upper_aerodigestive_tract(1)|breast(1)|skin(1) 8 TGCCTCTTTTCGACCCCATTT 0.353 CLDN17 26285 broad.mit.edu 37 21 31538845 31538845 + Missense_Mutation SNP T C C TCGA-12-0615-01A-01D-1492-08 TCGA-12-0615-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx a6068793-51e4-4762-9150-cdfb030e8ade c90ff476-f8e2-41b0-977d-fb36577427f4 g.chr21:31538845T>C uc011acv.1 - 1 91 c.91A>G c.(91-93)AGA>GGA p.R31G NM_012131 NP_036263 P56750 CLD17_HUMAN claudin 17 31 Extracellular (Potential). calcium-independent cell-cell adhesion|tight junction assembly Golgi apparatus|integral to membrane|tight junction identical protein binding|structural molecule activity ovary(2) 2 GCTGATACTCTCCACTGAGGC 0.507 MX2 4600 broad.mit.edu 37 21 42762561 42762561 + Missense_Mutation SNP G C C TCGA-12-0615-01A-01D-1492-08 TCGA-12-0615-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx a6068793-51e4-4762-9150-cdfb030e8ade c90ff476-f8e2-41b0-977d-fb36577427f4 g.chr21:42762561G>C uc002yzf.1 + 6 906 c.802G>C c.(802-804)GTG>CTG p.V268L MX2_uc011aer.1_Intron|MX2_uc002yzg.1_5'UTR NM_002463 NP_002454 P20592 MX2_HUMAN myxovirus resistance protein 2 268 response to virus|type I interferon-mediated signaling pathway cytoplasm|nucleus GTP binding|GTPase activity ovary(2) 2 Prostate(19;1.57e-07)|all_epithelial(19;0.0222) TCCCTGTAACGTGGACATTGC 0.507 CELSR1 9620 broad.mit.edu 37 22 46930786 46930786 + Missense_Mutation SNP G A A TCGA-12-0615-01A-01D-1492-08 TCGA-12-0615-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx a6068793-51e4-4762-9150-cdfb030e8ade c90ff476-f8e2-41b0-977d-fb36577427f4 g.chr22:46930786G>A uc003bhw.1 - 1 2282 c.2282C>T c.(2281-2283)GCG>GTG p.A761V NM_014246 NP_055061 Q9NYQ6 CELR1_HUMAN cadherin EGF LAG seven-pass G-type receptor 1 761 Extracellular (Potential).|Cadherin 5. central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway integral to plasma membrane calcium ion binding|G-protein coupled receptor activity|protein dimerization activity lung(4)|breast(4)|pancreas(2)|skin(1) 11 Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766) UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171) TGCTGTCACCGCCAGCACGTA 0.602 SHISA5 51246 broad.mit.edu 37 3 48538580 48538580 + Missense_Mutation SNP G A A TCGA-12-0615-01A-01D-1492-08 TCGA-12-0615-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx a6068793-51e4-4762-9150-cdfb030e8ade c90ff476-f8e2-41b0-977d-fb36577427f4 g.chr3:48538580G>A uc003ctp.1 - 2 357 c.223C>T c.(223-225)CCT>TCT p.P75S SHISA5_uc003cto.1_Missense_Mutation_p.P44S|SHISA5_uc003ctq.1_Intron|SHISA5_uc003ctr.1_Missense_Mutation_p.P44S|SHISA5_uc003cts.1_Missense_Mutation_p.P44S NM_016479 NP_057563 Q8N114 SHSA5_HUMAN scotin precursor 75 Extracellular (Potential). apoptosis|positive regulation of I-kappaB kinase/NF-kappaB cascade endoplasmic reticulum membrane|integral to membrane|nuclear membrane signal transducer activity|WW domain binding 0 CTGGCCTCAGGCACAGCACAC 0.572 ERC2 26059 broad.mit.edu 37 3 56468977 56468977 + Missense_Mutation SNP C T T TCGA-12-0615-01A-01D-1492-08 TCGA-12-0615-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx a6068793-51e4-4762-9150-cdfb030e8ade c90ff476-f8e2-41b0-977d-fb36577427f4 g.chr3:56468977C>T uc003dhr.1 - 2 315 c.59G>A c.(58-60)CGT>CAT p.R20H NM_015576 NP_056391 O15083 ERC2_HUMAN cytomatrix protein p110 20 cell junction|cytoplasm|cytoskeleton|growth cone|presynaptic membrane|synaptosome protein binding ovary(2) 2 KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219) CCTTGGCAAACGAGGGGATCT 0.468 FAM19A1 407738 broad.mit.edu 37 3 68055847 68055847 + Silent SNP C T T TCGA-12-0615-01A-01D-1492-08 TCGA-12-0615-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx a6068793-51e4-4762-9150-cdfb030e8ade c90ff476-f8e2-41b0-977d-fb36577427f4 g.chr3:68055847C>T uc003dnd.2 + 2 294 c.78C>T c.(76-78)TCC>TCT p.S26S FAM19A1_uc003dne.2_Silent_p.S26S|FAM19A1_uc003dng.2_Silent_p.S26S|FAM19A1_uc003dnf.1_RNA NM_213609 NP_998774 Q7Z5A9 F19A1_HUMAN family with sequence similarity 19 (chemokine 26 endoplasmic reticulum|extracellular region ovary(1) 1 Lung NSC(201;0.0117) BRCA - Breast invasive adenocarcinoma(55;7.7e-05)|Epithelial(33;0.000937)|KIRC - Kidney renal clear cell carcinoma(39;0.0579)|Kidney(39;0.0743) GCCATGGATCCCTTCAGCACA 0.502 CNTN3 5067 broad.mit.edu 37 3 74316462 74316462 + Missense_Mutation SNP C A A TCGA-12-0615-01A-01D-1492-08 TCGA-12-0615-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx a6068793-51e4-4762-9150-cdfb030e8ade c90ff476-f8e2-41b0-977d-fb36577427f4 g.chr3:74316462C>A uc003dpm.1 - 20 2852 c.2772G>T c.(2770-2772)GAG>GAT p.E924D NM_020872 NP_065923 Q9P232 CNTN3_HUMAN contactin 3 precursor 924 Fibronectin type-III 4. cell adhesion anchored to membrane|plasma membrane protein binding breast(3)|ovary(1)|skin(1) 5 Lung NSC(201;0.138)|Lung SC(41;0.21) Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01) CTTTAACTTGCTCCCAATTAA 0.358 ARL13B 200894 broad.mit.edu 37 3 93761891 93761891 + Missense_Mutation SNP C A A rs139997243 TCGA-12-0615-01A-01D-1492-08 TCGA-12-0615-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx a6068793-51e4-4762-9150-cdfb030e8ade c90ff476-f8e2-41b0-977d-fb36577427f4 g.chr3:93761891C>A uc003drc.2 + 7 1117 c.831C>A c.(829-831)AAC>AAA p.N277K ARL13B_uc010hop.2_Missense_Mutation_p.N128K|ARL13B_uc003drd.2_Missense_Mutation_p.N170K|ARL13B_uc003dre.2_Missense_Mutation_p.N262K|ARL13B_uc003drf.2_Missense_Mutation_p.N277K|ARL13B_uc003drg.2_Missense_Mutation_p.N174K NM_182896 NP_878899 Q3SXY8 AR13B_HUMAN ADP-ribosylation factor-like 2-like 1 isoform 1 277 GTP binding 0 AGAAAAAAAACCAAAAAATGG 0.333 LEPREL1 55214 broad.mit.edu 37 3 189700930 189700930 + Splice_Site SNP C T T TCGA-12-0615-01A-01D-1492-08 TCGA-12-0615-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx a6068793-51e4-4762-9150-cdfb030e8ade c90ff476-f8e2-41b0-977d-fb36577427f4 g.chr3:189700930C>T uc011bsk.1 - 8 1618 c.1230_splice c.e8-1 p.R410_splice LEPREL1_uc003fsg.2_Splice_Site_p.R229_splice NM_018192 NP_060662 Q8IVL5 P3H2_HUMAN leprecan-like 1 isoform a collagen metabolic process|negative regulation of cell proliferation|peptidyl-proline hydroxylation basement membrane|endoplasmic reticulum|Golgi apparatus iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 3-dioxygenase activity breast(3)|ovary(1) 4 all_cancers(143;4.01e-10)|Ovarian(172;0.0925) Lung(62;4.35e-05) GBM - Glioblastoma multiforme(93;0.02) L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126) TGAAGGGACCCTGCCCATTCA 0.393 WDR1 9948 broad.mit.edu 37 4 10086069 10086070 + Frame_Shift_Ins INS - T T TCGA-12-0615-01A-01D-1492-08 TCGA-12-0615-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx a6068793-51e4-4762-9150-cdfb030e8ade c90ff476-f8e2-41b0-977d-fb36577427f4 g.chr4:10086069_10086070insT uc003gmf.2 - 9 1319_1320 c.1036_1037insA c.(1036-1038)ATTfs p.I346fs WDR1_uc003gmg.2_Frame_Shift_Ins_p.I206fs|WDR1_uc003gmh.1_RNA|WDR1_uc011bwu.1_Frame_Shift_Ins_p.I181fs|WDR1_uc010idm.2_5'Flank NM_017491 NP_059830 O75083 WDR1_HUMAN WD repeat-containing protein 1 isoform 1 346 WD 6. platelet activation|platelet degranulation|sensory perception of sound cytoskeleton|cytosol|extracellular region actin binding ovary(2)|pancreas(1) 3 STAD - Stomach adenocarcinoma(129;0.000703)|Colorectal(103;0.0057)|LUSC - Lung squamous cell carcinoma(721;0.0232) AAGGATATTAATGTGTCCGTCG 0.550 FRYL 285527 broad.mit.edu 37 4 48622786 48622786 + Missense_Mutation SNP A C C TCGA-12-0615-01A-01D-1492-08 TCGA-12-0615-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx a6068793-51e4-4762-9150-cdfb030e8ade c90ff476-f8e2-41b0-977d-fb36577427f4 g.chr4:48622786A>C uc003gyh.1 - 6 789 c.184T>G c.(184-186)TCT>GCT p.S62A FRYL_uc003gyk.2_Missense_Mutation_p.S62A|FRYL_uc003gyl.1_Missense_Mutation_p.S113A|FRYL_uc003gym.1_Missense_Mutation_p.S62A NM_015030 NP_055845 O94915 FRYL_HUMAN furry-like 62 regulation of transcription, DNA-dependent|transcription, DNA-dependent protein binding skin(1) 1 GAGCTCATAGAGCTTATCAAC 0.363 SFRP2 6423 broad.mit.edu 37 4 154702675 154702675 + Silent SNP C T T TCGA-12-0615-01A-01D-1492-08 TCGA-12-0615-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx a6068793-51e4-4762-9150-cdfb030e8ade c90ff476-f8e2-41b0-977d-fb36577427f4 g.chr4:154702675C>T uc003inv.1 - 3 1057 c.816G>A c.(814-816)TCG>TCA p.S272S NM_003013 NP_003004 Q96HF1 SFRP2_HUMAN secreted frizzled-related protein 2 precursor 272 NTR. brain development|cardiac left ventricle morphogenesis|cell-cell signaling|dermatome development|hemopoietic stem cell proliferation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell growth|negative regulation of cell migration|negative regulation of epithelial cell proliferation|negative regulation of epithelial to mesenchymal transition|negative regulation of peptidyl-tyrosine phosphorylation|negative regulation of transcription, DNA-dependent|outflow tract morphogenesis|patterning of blood vessels|positive regulation of angiogenesis|positive regulation of anti-apoptosis|positive regulation of apoptosis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell adhesion mediated by integrin|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of fat cell differentiation|positive regulation of peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter|regulation of stem cell division|sclerotome development cytoplasm|extracellular matrix|extracellular space|plasma membrane fibronectin binding|integrin binding|PDZ domain binding|receptor agonist activity|Wnt receptor activity|Wnt-protein binding p.S272S(1) ovary(1)|central_nervous_system(1) 2 all_hematologic(180;0.093) Renal(120;0.117) ACCGCTTCACCGAGGTGATCA 0.592 VCAN 1462 broad.mit.edu 37 5 82815367 82815367 + Silent SNP T C C TCGA-12-0615-01A-01D-1492-08 TCGA-12-0615-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx a6068793-51e4-4762-9150-cdfb030e8ade c90ff476-f8e2-41b0-977d-fb36577427f4 g.chr5:82815367T>C uc003kii.3 + 7 1598 c.1242T>C c.(1240-1242)GCT>GCC p.A414A VCAN_uc003kij.3_Intron|VCAN_uc010jau.2_Silent_p.A414A|VCAN_uc003kik.3_Intron NM_004385 NP_004376 P13611 CSPG2_HUMAN versican isoform 1 precursor 414 GAG-alpha (glucosaminoglycan attachment domain). cell adhesion|cell recognition|glial cell migration extracellular space|proteinaceous extracellular matrix calcium ion binding|hyaluronic acid binding|sugar binding ovary(7)|skin(6)|lung(2)|central_nervous_system(1) 16 Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142) OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29) AACCTCAGGCTATCACAGATA 0.463 TRIM7 81786 broad.mit.edu 37 5 180622296 180622296 + Missense_Mutation SNP A G G TCGA-12-0615-01A-01D-1492-08 TCGA-12-0615-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx a6068793-51e4-4762-9150-cdfb030e8ade c90ff476-f8e2-41b0-977d-fb36577427f4 g.chr5:180622296A>G uc003mmz.1 - 7 1473 c.1406T>C c.(1405-1407)GTG>GCG p.V469A TRIM7_uc003mmv.1_Missense_Mutation_p.V287A|TRIM7_uc003mmw.1_Missense_Mutation_p.V261A|TRIM7_uc003mmx.1_Missense_Mutation_p.V261A|TRIM7_uc003mmy.1_Missense_Mutation_p.V261A NM_203293 NP_976038 Q9C029 TRIM7_HUMAN tripartite motif-containing 7 isoform 1 469 B30.2/SPRY. cytoplasm|nucleus zinc ion binding ovary(2)|skin(1) 3 all_cancers(89;6.03e-06)|all_epithelial(37;7.1e-07)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0684) all_cancers(40;0.000172)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_lung(500;0.0221)|all_hematologic(541;0.0433)|Lung NSC(249;0.132)|Ovarian(839;0.238) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) all cancers(165;2e-06)|Epithelial(171;1.35e-05)|OV - Ovarian serous cystadenocarcinoma(192;0.000128)|Kidney(146;0.0674)|GBM - Glioblastoma multiforme(465;0.0802) CACGGCTCCCACCTCCAGGTC 0.672 ANKS1A 23294 broad.mit.edu 37 6 34935028 34935028 + Silent SNP G A A TCGA-12-0615-01A-01D-1492-08 TCGA-12-0615-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx a6068793-51e4-4762-9150-cdfb030e8ade c90ff476-f8e2-41b0-977d-fb36577427f4 g.chr6:34935028G>A uc003ojx.3 + 2 352 c.210G>A c.(208-210)GGG>GGA p.G70G ANKS1A_uc011dss.1_Silent_p.G70G|ANKS1A_uc011dst.1_5'UTR|ANKS1A_uc010jvp.1_5'UTR|ANKS1A_uc010jvq.1_5'Flank NM_015245 NP_056060 Q92625 ANS1A_HUMAN ankyrin repeat and sterile alpha motif domain 70 cytoplasm protein binding ovary(3)|upper_aerodigestive_tract(1) 4 TGTGGAGAGGGCCAAATGTGA 0.423 GLP1R 2740 broad.mit.edu 37 6 39033981 39033981 + Silent SNP G A A TCGA-12-0615-01A-01D-1492-08 TCGA-12-0615-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx a6068793-51e4-4762-9150-cdfb030e8ade c90ff476-f8e2-41b0-977d-fb36577427f4 g.chr6:39033981G>A uc003ooj.3 + 5 471 c.411G>A c.(409-411)CCG>CCA p.P137P GLP1R_uc003ooh.2_RNA|GLP1R_uc003ooi.2_RNA NM_002062 NP_002053 P43220 GLP1R_HUMAN glucagon-like peptide 1 receptor precursor 137 Extracellular (Potential). P -> R (in Ref. 4; no nucleotide entry).|SP -> WG (in Ref. 1; AAA03614). activation of adenylate cyclase activity|cAMP-mediated signaling|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|regulation of insulin secretion integral to membrane|plasma membrane glucagon receptor activity|peptide receptor activity, G-protein coupled lung(3)|breast(1)|pancreas(1) 5 Exenatide(DB01276)|Glucagon recombinant(DB00040) AGAGCTCCCCGGAGGAGCAGC 0.597 RNF217 154214 broad.mit.edu 37 6 125379096 125379096 + Silent SNP C T T TCGA-12-0615-01A-01D-1492-08 TCGA-12-0615-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx a6068793-51e4-4762-9150-cdfb030e8ade c90ff476-f8e2-41b0-977d-fb36577427f4 g.chr6:125379096C>T uc003pzs.2 + 5 587 c.249C>T c.(247-249)TGC>TGT p.C83C RNF217_uc003pzr.2_Silent_p.C140C|RNF217_uc003pzt.2_RNA NM_152553 NP_689766 Q8TC41 RN217_HUMAN ring finger protein 217 83 IBR-type. protein ubiquitination involved in ubiquitin-dependent protein catabolic process integral to membrane ubiquitin-protein ligase activity|zinc ion binding 0 LUSC - Lung squamous cell carcinoma(4;0.0263)|Lung(4;0.0828) GBM - Glioblastoma multiforme(226;0.0162) AGATCCAGTGCCCTACCTGCC 0.388 HECA 51696 broad.mit.edu 37 6 139495543 139495543 + Missense_Mutation SNP C T T TCGA-12-0615-01A-01D-1492-08 TCGA-12-0615-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx a6068793-51e4-4762-9150-cdfb030e8ade c90ff476-f8e2-41b0-977d-fb36577427f4 g.chr6:139495543C>T uc003qin.2 + 3 1619 c.1334C>T c.(1333-1335)GCC>GTC p.A445V NM_016217 NP_057301 Q9UBI9 HDC_HUMAN headcase 445 respiratory tube development 0 GBM - Glioblastoma multiforme(68;0.000252)|OV - Ovarian serous cystadenocarcinoma(155;0.000387) CATCTGTATGCCGTGTGCGTG 0.502 SEPT14 346288 broad.mit.edu 37 7 55874801 55874801 + Missense_Mutation SNP G C C TCGA-12-0615-01A-01D-1492-08 TCGA-12-0615-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx a6068793-51e4-4762-9150-cdfb030e8ade c90ff476-f8e2-41b0-977d-fb36577427f4 g.chr7:55874801G>C uc003tqz.2 - 8 1085 c.968C>G c.(967-969)CCA>CGA p.P323R NM_207366 NP_997249 Q6ZU15 SEP14_HUMAN septin 14 323 cell cycle|cell division septin complex GTP binding|protein binding 0 Breast(14;0.214) Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099) CTGGTTGTTTGGACCCACATC 0.368 TRIM4 89122 broad.mit.edu 37 7 99507253 99507253 + Missense_Mutation SNP C T T TCGA-12-0615-01A-01D-1492-08 TCGA-12-0615-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx a6068793-51e4-4762-9150-cdfb030e8ade c90ff476-f8e2-41b0-977d-fb36577427f4 g.chr7:99507253C>T uc003usd.2 - 3 632 c.502G>A c.(502-504)GTG>ATG p.V168M TRIM4_uc003use.2_Missense_Mutation_p.V142M|TRIM4_uc011kjc.1_Translation_Start_Site|TRIM4_uc003usf.2_Missense_Mutation_p.V142M NM_033017 NP_148977 Q9C037 TRIM4_HUMAN tripartite motif protein TRIM4 isoform alpha 168 protein trimerization cytoplasm|plasma membrane zinc ion binding ovary(1)|kidney(1) 2 Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323) Ovarian(593;0.238) ATCTTGGCCACGAGATTACGC 0.408 DPY19L2P2 349152 broad.mit.edu 37 7 102825947 102825947 + Missense_Mutation SNP A G G TCGA-12-0615-01A-01D-1492-08 TCGA-12-0615-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx a6068793-51e4-4762-9150-cdfb030e8ade c90ff476-f8e2-41b0-977d-fb36577427f4 g.chr7:102825947A>G uc003vbh.3 - 20 3239 c.1048T>C c.(1048-1050)TGT>CGT p.C350R DPY19L2P2_uc003vbg.3_RNA|DPY19L2P2_uc010lit.2_RNA NR_003561 RecName: Full=Protein dpy-19 homolog 2-like 2; AltName: Full=Dpy-19-like protein 2 pseudogene 2; 0 ACAGCTTGACACTTGCCATTG 0.373 ATP6V0A4 50617 broad.mit.edu 37 7 138447096 138447096 + Silent SNP G A A TCGA-12-0615-01A-01D-1492-08 TCGA-12-0615-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx a6068793-51e4-4762-9150-cdfb030e8ade c90ff476-f8e2-41b0-977d-fb36577427f4 g.chr7:138447096G>A uc003vuf.2 - 6 739 c.501C>T c.(499-501)ACC>ACT p.T167T ATP6V0A4_uc003vug.2_Silent_p.T167T|ATP6V0A4_uc003vuh.2_Silent_p.T167T NM_130841 NP_570856 Q9HBG4 VPP4_HUMAN ATPase, H+ transporting, lysosomal V0 subunit 167 Cytoplasmic (Potential). cellular iron ion homeostasis|excretion|insulin receptor signaling pathway|ossification|regulation of pH|sensory perception of sound|transferrin transport apical plasma membrane|brush border membrane|endosome membrane|integral to membrane|proton-transporting two-sector ATPase complex, proton-transporting domain ATPase binding|hydrogen ion transmembrane transporter activity pancreas(1) 1 CCAACTTTCCGGTCATATATG 0.458 SGK223 157285 broad.mit.edu 37 8 8239066 8239066 + Silent SNP A G G TCGA-12-0615-01A-01D-1492-08 TCGA-12-0615-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx a6068793-51e4-4762-9150-cdfb030e8ade c90ff476-f8e2-41b0-977d-fb36577427f4 g.chr8:8239066A>G uc003wsh.3 - 1 192 c.192T>C c.(190-192)CCT>CCC p.P64P NM_001080826 NP_001074295 Q86YV5 SG223_HUMAN pragmin 64 ATP binding|non-membrane spanning protein tyrosine kinase activity 0 GGCAGTTCTCAGGCCTGGGAG 0.652 VCPIP1 80124 broad.mit.edu 37 8 67546807 67546807 + Nonsense_Mutation SNP C A A TCGA-12-0615-01A-01D-1492-08 TCGA-12-0615-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx a6068793-51e4-4762-9150-cdfb030e8ade c90ff476-f8e2-41b0-977d-fb36577427f4 g.chr8:67546807C>A uc003xwn.2 - 3 3857 c.3598G>T c.(3598-3600)GAG>TAG p.E1200* NM_025054 NP_079330 Q96JH7 VCIP1_HUMAN valosin containing protein (p97)/p47 complex 1200 protein ubiquitination endoplasmic reticulum|Golgi stack ubiquitin-specific protease activity lung(2)|ovary(2)|central_nervous_system(1)|breast(1)|skin(1)|kidney(1) 8 Lung NSC(129;0.142)|all_lung(136;0.227) Epithelial(68;0.000771)|OV - Ovarian serous cystadenocarcinoma(28;0.00248)|all cancers(69;0.00296)|BRCA - Breast invasive adenocarcinoma(89;0.149) TCAAGCTCCTCCACGGAATTT 0.428 SLC25A32 81034 broad.mit.edu 37 8 104412724 104412724 + Missense_Mutation SNP C G G TCGA-12-0615-01A-01D-1492-08 TCGA-12-0615-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx a6068793-51e4-4762-9150-cdfb030e8ade c90ff476-f8e2-41b0-977d-fb36577427f4 g.chr8:104412724C>G uc003yll.2 - 7 1166 c.863G>C c.(862-864)AGA>ACA p.R288T SLC25A32_uc011lhr.1_Missense_Mutation_p.R156T NM_030780 NP_110407 Q9H2D1 MFTC_HUMAN solute carrier family 25, member 32 288 Solcar 3.|Helical; Name=6; (Potential). folic acid metabolic process|mitochondrial transport integral to membrane|mitochondrial inner membrane binding|folic acid transporter activity ovary(1) 1 OV - Ovarian serous cystadenocarcinoma(57;2.79e-06)|STAD - Stomach adenocarcinoma(118;0.197) Folic Acid(DB00158) TGGAGTCACTCTAATCAAATT 0.368 RECK 8434 broad.mit.edu 37 9 36060144 36060144 + Missense_Mutation SNP C G G TCGA-12-0615-01A-01D-1492-08 TCGA-12-0615-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx a6068793-51e4-4762-9150-cdfb030e8ade c90ff476-f8e2-41b0-977d-fb36577427f4 g.chr9:36060144C>G uc003zyv.2 + 4 349 c.263C>G c.(262-264)TCT>TGT p.S88C RECK_uc010mld.2_Missense_Mutation_p.S88C|RECK_uc003zyu.3_Missense_Mutation_p.S88C|RECK_uc003zyw.2_Translation_Start_Site|RECK_uc010mle.1_Intron|RECK_uc003zyx.2_RNA NM_021111 NP_066934 O95980 RECK_HUMAN RECK protein precursor 88 5 X Knot repeats. anchored to membrane|peripheral to membrane of membrane fraction|plasma membrane metalloendopeptidase inhibitor activity|serine-type endopeptidase inhibitor activity skin(2)|ovary(1) 3 LUSC - Lung squamous cell carcinoma(32;0.112)|STAD - Stomach adenocarcinoma(86;0.228) ATGAATTCATCTTTGCCAGGT 0.299 TMEM2 23670 broad.mit.edu 37 9 74345061 74345061 + Missense_Mutation SNP C T T TCGA-12-0615-01A-01D-1492-08 TCGA-12-0615-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx a6068793-51e4-4762-9150-cdfb030e8ade c90ff476-f8e2-41b0-977d-fb36577427f4 g.chr9:74345061C>T uc011lsa.1 - 9 2422 c.1882G>A c.(1882-1884)GGT>AGT p.G628S TMEM2_uc010mos.2_Missense_Mutation_p.G565S|TMEM2_uc011lsb.1_RNA NM_013390 NP_037522 Q9UHN6 TMEM2_HUMAN transmembrane protein 2 isoform a 628 integral to membrane ovary(2) 2 all_epithelial(88;4.56e-14)|Myeloproliferative disorder(762;0.0255) GBM - Glioblastoma multiforme(74;7.45e-21)|OV - Ovarian serous cystadenocarcinoma(323;1.02e-16) AGGAGAGTACCCGGCTTGGTG 0.458 WNK2 65268 broad.mit.edu 37 9 96030055 96030055 + Missense_Mutation SNP G A A TCGA-12-0615-01A-01D-1492-08 TCGA-12-0615-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx a6068793-51e4-4762-9150-cdfb030e8ade c90ff476-f8e2-41b0-977d-fb36577427f4 g.chr9:96030055G>A uc004ati.1 + 16 3724 c.3724G>A c.(3724-3726)GAG>AAG p.E1242K WNK2_uc011lud.1_Missense_Mutation_p.E1242K|WNK2_uc004atj.2_Missense_Mutation_p.E1242K|WNK2_uc004atk.2_Missense_Mutation_p.E879K NM_006648 NP_006639 Q9Y3S1 WNK2_HUMAN WNK lysine deficient protein kinase 2 1242 intracellular protein kinase cascade ATP binding|protein binding|protein serine/threonine kinase activity lung(4)|stomach(3)|ovary(2)|large_intestine(1)|central_nervous_system(1)|breast(1) 12 CCTGCAGGCCGAGCGGGAAAC 0.577 NANS 54187 broad.mit.edu 37 9 100823174 100823174 + Silent SNP C T T TCGA-12-0615-01A-01D-1492-08 TCGA-12-0615-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx a6068793-51e4-4762-9150-cdfb030e8ade c90ff476-f8e2-41b0-977d-fb36577427f4 g.chr9:100823174C>T uc004ayb.2 + 3 885 c.243C>T c.(241-243)TAC>TAT p.Y81Y NANS_uc004ayc.2_Silent_p.Y81Y NM_018946 NP_061819 Q9NR45 SIAS_HUMAN N-acetylneuraminic acid phosphate synthase 81 lipopolysaccharide biosynthetic process cytoplasm N-acetylneuraminate synthase activity|N-acylneuraminate cytidylyltransferase activity|N-acylneuraminate-9-phosphate synthase activity skin(1) 1 Acute lymphoblastic leukemia(62;0.0559) GGAAGACGTACGGGGAGCACA 0.527 SVEP1 79987 broad.mit.edu 37 9 113173811 113173811 + Silent SNP G T T TCGA-12-0615-01A-01D-1492-08 TCGA-12-0615-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx a6068793-51e4-4762-9150-cdfb030e8ade c90ff476-f8e2-41b0-977d-fb36577427f4 g.chr9:113173811G>T uc010mtz.2 - 37 6517 c.6180C>A c.(6178-6180)CTC>CTA p.L2060L SVEP1_uc010mty.2_Translation_Start_Site NM_153366 NP_699197 Q4LDE5 SVEP1_HUMAN polydom 2060 Sushi 11. cell adhesion cytoplasm|extracellular region|membrane calcium ion binding ovary(7) 7 GGGCATTGCAGAGAAGCTGGG 0.512 MXRA5 25878 broad.mit.edu 37 X 3228536 3228536 + Missense_Mutation SNP G T T TCGA-12-0615-01A-01D-1492-08 TCGA-12-0615-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx a6068793-51e4-4762-9150-cdfb030e8ade c90ff476-f8e2-41b0-977d-fb36577427f4 g.chrX:3228536G>T uc004crg.3 - 7 7865 c.7708C>A c.(7708-7710)CCG>ACG p.P2570T NM_015419 NP_056234 Q9NR99 MXRA5_HUMAN adlican precursor 2570 Ig-like C2-type 10. extracellular region ovary(5)|lung(1)|central_nervous_system(1)|skin(1) 8 all_lung(23;0.00031)|Lung NSC(23;0.000946) CTGGGTGTCGGGGTCCCCGCG 0.622 WWC3 55841 broad.mit.edu 37 X 10066544 10066544 + Splice_Site SNP A T T TCGA-12-0615-01A-01D-1492-08 TCGA-12-0615-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx a6068793-51e4-4762-9150-cdfb030e8ade c90ff476-f8e2-41b0-977d-fb36577427f4 g.chrX:10066544A>T uc004csx.3 + 8 856 c.658_splice c.e8-2 p.F220_splice WWC3_uc010nds.2_Splice_Site|WWC3_uc010ndt.2_Splice_Site NM_015691 NP_056506 Q9ULE0 WWC3_HUMAN WWC family member 3 ovary(4) 4 TGTTCCGGAAAGTTTGTCTTT 0.348 IL1RAPL1 11141 broad.mit.edu 37 X 29973596 29973596 + Missense_Mutation SNP C G G TCGA-12-0615-01A-01D-1492-08 TCGA-12-0615-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx a6068793-51e4-4762-9150-cdfb030e8ade c90ff476-f8e2-41b0-977d-fb36577427f4 g.chrX:29973596C>G uc004dby.2 + 11 2258 c.1750C>G c.(1750-1752)CTG>GTG p.L584V NM_014271 NP_055086 Q9NZN1 IRPL1_HUMAN interleukin 1 receptor accessory protein-like 1 584 Cytoplasmic (Potential).|Interaction with NCS1. innate immune response|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of exocytosis|regulation of neuron projection development cytoplasm|integral to membrane|plasma membrane protein binding|transmembrane receptor activity ovary(3)|lung(1)|pancreas(1) 5 TTTTGGGGAGCTGCAGACTGT 0.507 CXorf59 286464 broad.mit.edu 37 X 36103484 36103484 + Missense_Mutation SNP C T T TCGA-12-0615-01A-01D-1492-08 TCGA-12-0615-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx a6068793-51e4-4762-9150-cdfb030e8ade c90ff476-f8e2-41b0-977d-fb36577427f4 g.chrX:36103484C>T uc004ddk.1 + 5 656 c.470C>T c.(469-471)TCC>TTC p.S157F NM_173695 NP_775966 Q8N9S7 CX059_HUMAN hypothetical protein LOC286464 157 integral to membrane central_nervous_system(1) 1 CAAAAGTTTTCCAGACAGAAT 0.328 TEX13A 56157 broad.mit.edu 37 X 104463874 104463874 + Silent SNP G A A TCGA-12-0615-01A-01D-1492-08 TCGA-12-0615-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx a6068793-51e4-4762-9150-cdfb030e8ade c90ff476-f8e2-41b0-977d-fb36577427f4 g.chrX:104463874G>A uc004ema.2 - 5 1114 c.1002C>T c.(1000-1002)TCC>TCT p.S334S IL1RAPL2_uc004elz.1_Intron|TEX13A_uc004emb.2_Missense_Mutation_p.P335L NM_031274 NP_112564 Q9BXU3 TX13A_HUMAN testis expressed sequence 13A 334 intracellular zinc ion binding ovary(2) 2 CCTCCCAGTCGGAAGGCAGCT 0.537 ODZ1 10178 broad.mit.edu 37 X 123514489 123514489 + Missense_Mutation SNP C A A TCGA-12-0615-01A-01D-1492-08 TCGA-12-0615-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx a6068793-51e4-4762-9150-cdfb030e8ade c90ff476-f8e2-41b0-977d-fb36577427f4 g.chrX:123514489C>A uc004euj.2 - 31 8139 c.8075G>T c.(8074-8076)GGT>GTT p.G2692V ODZ1_uc011muj.1_Missense_Mutation_p.G2698V|ODZ1_uc010nqy.2_Missense_Mutation_p.G2699V NM_014253 NP_055068 Q9UKZ4 TEN1_HUMAN odz, odd Oz/ten-m homolog 1 isoform 3 2692 Extracellular (Potential). immune response|negative regulation of cell proliferation|nervous system development|signal transduction extracellular region heparin binding ovary(11)|breast(4)|large_intestine(2)|skin(2)|pancreas(2)|upper_aerodigestive_tract(1)|lung(1) 23 CCCATCGTAACCTTGTACCCG 0.463 PDZD4 57595 broad.mit.edu 37 X 153069052 153069052 + Missense_Mutation SNP C T T TCGA-12-0615-01A-01D-1492-08 TCGA-12-0615-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx a6068793-51e4-4762-9150-cdfb030e8ade c90ff476-f8e2-41b0-977d-fb36577427f4 g.chrX:153069052C>T uc004fiz.1 - 8 2316 c.2066G>A c.(2065-2067)CGT>CAT p.R689H PDZD4_uc004fiy.1_Missense_Mutation_p.R614H|PDZD4_uc004fix.2_Missense_Mutation_p.R593H|PDZD4_uc004fja.1_Missense_Mutation_p.R695H|PDZD4_uc011mze.1_Missense_Mutation_p.R580H NM_032512 NP_115901 Q76G19 PDZD4_HUMAN PDZ domain containing 4 689 cell cortex breast(1) 1 all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05) CCGCTGCTCACGGGCCCGGAT 0.647