Hugo_Symbol Entrez_Gene_Id Center NCBI_Build Chromosome Start_position End_position Strand Variant_Classification Variant_Type Reference_Allele Tumor_Seq_Allele1 Tumor_Seq_Allele2 dbSNP_RS dbSNP_Val_Status Tumor_Sample_Barcode Matched_Norm_Sample_Barcode Match_Norm_Seq_Allele1 Match_Norm_Seq_Allele2 Tumor_Validation_Allele1 Tumor_Validation_Allele2 Match_Norm_Validation_Allele1 Match_Norm_Validation_Allele2 Verification_Status Validation_Status Mutation_Status Sequencing_Phase Sequence_Source Validation_Method Score BAM_file Sequencer Tumor_Sample_UUID Matched_Norm_Sample_UUID Genome_Change Annotation_Transcript Transcript_Strand Transcript_Exon Transcript_Position cDNA_Change Codon_Change Protein_Change Other_Transcripts Refseq_mRNA_Id Refseq_prot_Id SwissProt_acc_Id SwissProt_entry_Id Description UniProt_AApos UniProt_Region UniProt_Site UniProt_Natural_Variations UniProt_Experimental_Info GO_Biological_Process GO_Cellular_Component GO_Molecular_Function COSMIC_overlapping_mutations COSMIC_fusion_genes COSMIC_tissue_types_affected COSMIC_total_alterations_in_gene Tumorscape_Amplification_Peaks Tumorscape_Deletion_Peaks TCGAscape_Amplification_Peaks TCGAscape_Deletion_Peaks DrugBank ref_context gc_content CCLE_ONCOMAP_overlapping_mutations CCLE_ONCOMAP_total_mutations_in_gene CGC_Mutation_Type CGC_Translocation_Partner CGC_Tumor_Types_Somatic CGC_Tumor_Types_Germline CGC_Other_Diseases DNARepairGenes_Role FamilialCancerDatabase_Syndromes MUTSIG_Published_Results OREGANNO_ID OREGANNO_Values t_alt_count t_ref_count validation_status validation_method validation_tumor_sample validation_alt_allele pox qox isArtifactMode oxoGCut TAS1R1 80835 broad.mit.edu 37 1 6635143 6635143 + Silent SNP C C T TCGA-CR-7367-01A-11D-2012-08 TCGA-CR-7367-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b82e34db-7b0e-4bbd-bc42-ba063ac42409 b93dc36c-99c1-4b6d-88c1-97d65bad89d2 g.chr1:6635143C>T uc001ant.2 + 3 951 c.951C>T c.(949-951)CGC>CGT p.R317R TAS1R1_uc001anu.2_Intron|TAS1R1_uc001anv.2_Intron|TAS1R1_uc001anw.2_Silent_p.R317R NM_138697 NP_619642 Q7RTX1 TS1R1_HUMAN sweet taste receptor T1r isoform b 317 Extracellular (Potential). sensory perception of umami taste plasma membrane protein heterodimerization activity|taste receptor activity ovary(1)|central_nervous_system(1)|skin(1) 3 Ovarian(185;0.0212)|all_lung(157;0.154) all_cancers(23;8.73e-34)|all_epithelial(116;9.26e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Breast(487;0.000353)|Renal(390;0.0007)|Colorectal(325;0.00104)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0443) Colorectal(212;1.29e-07)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|BRCA - Breast invasive adenocarcinoma(365;0.00108)|STAD - Stomach adenocarcinoma(132;0.0167)|READ - Rectum adenocarcinoma(331;0.0642) GGATCCAGCGCATTGGGATGG 0.642 NA 10 32 0 0 0 0 VPS13D 55187 broad.mit.edu 37 1 12326995 12326995 + Missense_Mutation SNP G G A TCGA-CR-7367-01A-11D-2012-08 TCGA-CR-7367-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b82e34db-7b0e-4bbd-bc42-ba063ac42409 b93dc36c-99c1-4b6d-88c1-97d65bad89d2 g.chr1:12326995G>A uc001atv.2 + 14 1793 c.1652G>A c.(1651-1653)CGG>CAG p.R551Q VPS13D_uc001atw.2_Missense_Mutation_p.R551Q NM_015378 NP_056193 Q5THJ4 VP13D_HUMAN vacuolar protein sorting 13D isoform 1 551 protein localization ovary(4)|pancreas(1) 5 Ovarian(185;0.249) Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209) CTTTCAGTCCGGTTGGGTGGA 0.388 NA 16 35 0 0 0 0 TMEM39B 55116 broad.mit.edu 37 1 32557499 32557499 + Missense_Mutation SNP C C T TCGA-CR-7367-01A-11D-2012-08 TCGA-CR-7367-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b82e34db-7b0e-4bbd-bc42-ba063ac42409 b93dc36c-99c1-4b6d-88c1-97d65bad89d2 g.chr1:32557499C>T uc010ogv.1 + 6 960 c.814C>T c.(814-816)CGC>TGC p.R272C TMEM39B_uc010ogt.1_RNA|TMEM39B_uc010ogu.1_Missense_Mutation_p.R145C|TMEM39B_uc001bue.3_Missense_Mutation_p.R273C|TMEM39B_uc001buf.3_Missense_Mutation_p.R73C|TMEM39B_uc010ogw.1_Missense_Mutation_p.R73C NM_018056 NP_060526 Q9GZU3 TM39B_HUMAN transmembrane protein 39B 272 integral to membrane 0 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174) CAGCCTCATCCGCAGTGAGGT 0.597 NA 5 49 0 0 0 0 ELAVL4 1996 broad.mit.edu 37 1 50666696 50666696 + Missense_Mutation SNP G G A TCGA-CR-7367-01A-11D-2012-08 TCGA-CR-7367-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b82e34db-7b0e-4bbd-bc42-ba063ac42409 b93dc36c-99c1-4b6d-88c1-97d65bad89d2 g.chr1:50666696G>A uc001csb.2 + 7 1257 c.989G>A c.(988-990)CGT>CAT p.R330H ELAVL4_uc001cry.3_Missense_Mutation_p.R319H|ELAVL4_uc001crz.3_Missense_Mutation_p.R316H|ELAVL4_uc001csa.3_Missense_Mutation_p.R333H|ELAVL4_uc001csc.3_Missense_Mutation_p.R316H|ELAVL4_uc010omz.1_Missense_Mutation_p.R321H NM_021952 NP_068771 P26378 ELAV4_HUMAN ELAV-like 4 isoform 1 330 RRM 3. mRNA processing AU-rich element binding|mRNA 3'-UTR binding|nucleotide binding ovary(1)|pancreas(1) 2 AAGGTGATTCGTGACTTCAAC 0.542 NA 10 68 0 0 0 0 C1orf177 163747 broad.mit.edu 37 1 55282673 55282673 + Silent SNP T T A TCGA-CR-7367-01A-11D-2012-08 TCGA-CR-7367-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b82e34db-7b0e-4bbd-bc42-ba063ac42409 b93dc36c-99c1-4b6d-88c1-97d65bad89d2 g.chr1:55282673T>A uc001cyb.3 + 9 1116 c.1062T>A c.(1060-1062)GGT>GGA p.G354G C1orf177_uc001cya.3_Silent_p.G354G NM_001110533 NP_001104003 Q3ZCV2 CA177_HUMAN hypothetical protein LOC163747 isoform 2 354 0 ACCCAGTAGGTGTGGGCCGCT 0.572 NA 6 40 0 0 0 0 C8A 731 broad.mit.edu 37 1 57351627 57351627 + Nonsense_Mutation SNP A A T TCGA-CR-7367-01A-11D-2012-08 TCGA-CR-7367-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b82e34db-7b0e-4bbd-bc42-ba063ac42409 b93dc36c-99c1-4b6d-88c1-97d65bad89d2 g.chr1:57351627A>T uc001cyo.2 + 7 1015 c.883A>T c.(883-885)AAG>TAG p.K295* NM_000562 NP_000553 P07357 CO8A_HUMAN complement component 8, alpha polypeptide 295 MACPF. complement activation, alternative pathway|complement activation, classical pathway|cytolysis extracellular space|membrane attack complex ovary(1)|central_nervous_system(1)|skin(1) 3 AATCTTCACAAAGGTGCAGAC 0.368 NA 20 29 0 0 0 0 DAB1 1600 broad.mit.edu 37 1 57611078 57611078 + Missense_Mutation SNP A A G TCGA-CR-7367-01A-11D-2012-08 TCGA-CR-7367-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b82e34db-7b0e-4bbd-bc42-ba063ac42409 b93dc36c-99c1-4b6d-88c1-97d65bad89d2 g.chr1:57611078A>G uc001cys.1 - 5 766 c.92T>C c.(91-93)TTG>TCG p.L31S DAB1_uc001cyt.1_Missense_Mutation_p.L31S|DAB1_uc001cyq.1_Missense_Mutation_p.L31S|DAB1_uc001cyr.1_Missense_Mutation_p.L31S|DAB1_uc009vzw.1_Missense_Mutation_p.L31S|DAB1_uc009vzx.1_Missense_Mutation_p.L31S NM_021080 NP_066566 O75553 DAB1_HUMAN disabled homolog 1 31 cell differentiation|nervous system development skin(2)|ovary(1) 3 CCTCTTTATCAAAGTGGCTTC 0.443 NA 5 47 0 0 0 0 COL24A1 255631 broad.mit.edu 37 1 86529426 86529426 + Missense_Mutation SNP G G C TCGA-CR-7367-01A-11D-2012-08 TCGA-CR-7367-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b82e34db-7b0e-4bbd-bc42-ba063ac42409 b93dc36c-99c1-4b6d-88c1-97d65bad89d2 g.chr1:86529426G>C uc001dlj.2 - 8 1766 c.1724C>G c.(1723-1725)CCT>CGT p.P575R COL24A1_uc010osd.1_5'UTR|COL24A1_uc001dlk.2_RNA|COL24A1_uc010ose.1_RNA|COL24A1_uc010osf.1_RNA|COL24A1_uc009wcq.2_Missense_Mutation_p.P575R NM_152890 NP_690850 Q17RW2 COOA1_HUMAN collagen, type XXIV, alpha 1 precursor 575 Collagen-like 2. cell adhesion collagen extracellular matrix structural constituent ovary(3)|central_nervous_system(1)|skin(1) 5 all cancers(265;0.0627)|Epithelial(280;0.0689) TGGGAGTCCAGGATGTCCTTT 0.383 NA 20 103 0 0 0 0 COL11A1 1301 broad.mit.edu 37 1 103491099 103491099 + Missense_Mutation SNP C C T TCGA-CR-7367-01A-11D-2012-08 TCGA-CR-7367-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b82e34db-7b0e-4bbd-bc42-ba063ac42409 b93dc36c-99c1-4b6d-88c1-97d65bad89d2 g.chr1:103491099C>T uc001dul.2 - 7 1286 c.968G>A c.(967-969)AGG>AAG p.R323K COL11A1_uc001duk.2_5'UTR|COL11A1_uc001dum.2_Missense_Mutation_p.R335K|COL11A1_uc001dun.2_Missense_Mutation_p.R284K|COL11A1_uc009weh.2_Intron NM_001854 NP_001845 P12107 COBA1_HUMAN alpha 1 type XI collagen isoform A 323 Nonhelical region. collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception collagen type XI extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging ovary(6)|breast(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1) 12 all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181) Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248) AGAAACATGCCTAGGAGCTTC 0.328 NA 6 47 0 0 0 0 AMY2B 280 broad.mit.edu 37 1 104115869 104115869 + Missense_Mutation SNP A A G TCGA-CR-7367-01A-11D-2012-08 TCGA-CR-7367-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b82e34db-7b0e-4bbd-bc42-ba063ac42409 b93dc36c-99c1-4b6d-88c1-97d65bad89d2 g.chr1:104115869A>G uc001duq.2 + 5 1116 c.500A>G c.(499-501)AAT>AGT p.N167S AMY2B_uc010ouo.1_RNA|LOC648740_uc001dur.2_Missense_Mutation_p.N167S|AMY2B_uc001dus.1_5'Flank NM_020978 NP_066188 P19961 AMY2B_HUMAN amylase, pancreatic, alpha-2B precursor 167 carbohydrate metabolic process|digestion extracellular region alpha-amylase activity|metal ion binding 0 all_epithelial(167;3.05e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000451) Colorectal(144;0.0669)|all cancers(265;0.083)|Epithelial(280;0.094)|Lung(183;0.112) GAGAACTACAATGATGCTACT 0.358 NA 43 352 0 0 0 0 HSD3B2 3284 broad.mit.edu 37 1 119962178 119962178 + Missense_Mutation SNP G G A rs6211 byFrequency TCGA-CR-7367-01A-11D-2012-08 TCGA-CR-7367-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b82e34db-7b0e-4bbd-bc42-ba063ac42409 b93dc36c-99c1-4b6d-88c1-97d65bad89d2 g.chr1:119962178G>A uc001ehs.2 + 2 1053 c.280G>A c.(280-282)GAG>AAG p.E94K HSD3B2_uc001eht.2_Missense_Mutation_p.E94K|HSD3B2_uc001ehu.2_Missense_Mutation_p.E94K NM_000198 NP_000189 P26439 3BHS2_HUMAN 3 beta-hydroxysteroid dehydrogenase 2 94 HRE -> RRQ (in Ref. 8; AAD14329). androgen biosynthetic process|glucocorticoid biosynthetic process|mineralocorticoid biosynthetic process integral to membrane|microsome|mitochondrial inner membrane|mitochondrial intermembrane space|smooth endoplasmic reticulum membrane 3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding|steroid delta-isomerase activity ovary(2) 2 all_neural(166;0.187) all_lung(203;1.06e-06)|Lung NSC(69;7.5e-06)|all_epithelial(167;0.000284) Lung(183;0.015)|LUSC - Lung squamous cell carcinoma(189;0.0836) NADH(DB00157)|Trilostane(DB01108) CACTCACAGAGAGTCCATCAT 0.463 NA 6 56 0 0 0 0 PIAS3 10401 broad.mit.edu 37 1 145581554 145581554 + Missense_Mutation SNP A A G TCGA-CR-7367-01A-11D-2012-08 TCGA-CR-7367-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b82e34db-7b0e-4bbd-bc42-ba063ac42409 b93dc36c-99c1-4b6d-88c1-97d65bad89d2 g.chr1:145581554A>G uc001eoc.1 + 9 1226 c.1135A>G c.(1135-1137)ATC>GTC p.I379V NBPF10_uc001emp.3_Intron|PIAS3_uc001eod.1_Missense_Mutation_p.I48V NM_006099 NP_006090 Q9Y6X2 PIAS3_HUMAN protein inhibitor of activated STAT, 3 379 SP-RING-type. positive regulation of protein sumoylation|protein sumoylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent nuclear speck enzyme binding|nucleic acid binding|protein C-terminus binding|zinc ion binding ovary(1) 1 all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786) TGAATCTCTTATCATTGATGG 0.388 NA 14 89 0 0 0 0 THEM5 284486 broad.mit.edu 37 1 151824868 151824868 + Missense_Mutation SNP G G A TCGA-CR-7367-01A-11D-2012-08 TCGA-CR-7367-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b82e34db-7b0e-4bbd-bc42-ba063ac42409 b93dc36c-99c1-4b6d-88c1-97d65bad89d2 g.chr1:151824868G>A uc009wnd.2 - 2 323 c.191C>T c.(190-192)TCG>TTG p.S64L NM_182578 NP_872384 Q8N1Q8 THEM5_HUMAN thioesterase superfamily member 5 64 hydrolase activity ovary(1)|skin(1) 2 Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14) LUSC - Lung squamous cell carcinoma(543;0.181) CAGCATGTCCGAACACCAGCT 0.493 NA 20 117 0 0 0 0 RPTN 126638 broad.mit.edu 37 1 152128610 152128610 + Missense_Mutation SNP G G A TCGA-CR-7367-01A-11D-2012-08 TCGA-CR-7367-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b82e34db-7b0e-4bbd-bc42-ba063ac42409 b93dc36c-99c1-4b6d-88c1-97d65bad89d2 g.chr1:152128610G>A uc001ezs.1 - 3 1030 c.965C>T c.(964-966)ACG>ATG p.T322M NM_001122965 NP_001116437 Q6XPR3 RPTN_HUMAN repetin 322 Gln-rich. proteinaceous extracellular matrix calcium ion binding 0 TTGTCTGTCCGTCTGACTGTA 0.498 NA 13 854 0 0 0 0 FCRL6 343413 broad.mit.edu 37 1 159785428 159785428 + Missense_Mutation SNP G G A rs146779081 byFrequency TCGA-CR-7367-01A-11D-2012-08 TCGA-CR-7367-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b82e34db-7b0e-4bbd-bc42-ba063ac42409 b93dc36c-99c1-4b6d-88c1-97d65bad89d2 g.chr1:159785428G>A uc001fud.3 + 10 1324 c.1282G>A c.(1282-1284)GAC>AAC p.D428N FCRL6_uc001fuc.2_3'UTR|FCRL6_uc009wsz.1_3'UTR|FCRL6_uc009wta.2_3'UTR NM_001004310 NP_001004310 Q6DN72 FCRL6_HUMAN Fc receptor-like 6 precursor 428 Cytoplasmic (Potential). integral to membrane ovary(2)|skin(1) 3 all_hematologic(112;0.0597) ACCCCTTAGCGACTGTGAGGA 0.547 NA 10 46 0 0 0 0 EPRS 2058 broad.mit.edu 37 1 220153465 220153465 + Missense_Mutation SNP T T C TCGA-CR-7367-01A-11D-2012-08 TCGA-CR-7367-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b82e34db-7b0e-4bbd-bc42-ba063ac42409 b93dc36c-99c1-4b6d-88c1-97d65bad89d2 g.chr1:220153465T>C uc001hly.1 - 26 3943 c.3673A>G c.(3673-3675)ATA>GTA p.I1225V NM_004446 NP_004437 P07814 SYEP_HUMAN glutamyl-prolyl tRNA synthetase 1225 Prolyl-tRNA synthetase. glutamyl-tRNA aminoacylation|prolyl-tRNA aminoacylation|protein complex assembly cytosol|soluble fraction ATP binding|glutamate-tRNA ligase activity|proline-tRNA ligase activity|protein binding|RNA binding ovary(1)|skin(1) 2 GBM - Glioblastoma multiforme(131;0.0735) L-Glutamic Acid(DB00142)|L-Proline(DB00172) AATGCTTCTATTGTAGTTGTA 0.408 NA 11 118 0 0 0 0 PARP1 142 broad.mit.edu 37 1 226552719 226552719 + Missense_Mutation SNP G G A TCGA-CR-7367-01A-11D-2012-08 TCGA-CR-7367-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b82e34db-7b0e-4bbd-bc42-ba063ac42409 b93dc36c-99c1-4b6d-88c1-97d65bad89d2 g.chr1:226552719G>A uc001hqd.3 - 19 2813 c.2642C>T c.(2641-2643)CCG>CTG p.P881L NM_001618 NP_001609 P09874 PARP1_HUMAN poly (ADP-ribose) polymerase family, member 1 881 PARP catalytic. cellular response to insulin stimulus|protein ADP-ribosylation|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter nuclear envelope|nucleolus|transcription factor complex DNA binding|identical protein binding|NAD+ ADP-ribosyltransferase activity|protein N-terminus binding|transcription factor binding|zinc ion binding lung(3)|ovary(2)|breast(2)|skin(2)|upper_aerodigestive_tract(1) 10 Breast(184;0.133) GBM - Glioblastoma multiforme(131;0.0531) CGCTTCAGGCGGGGCTATCCG 0.567 NA Direct_reversal_of_damage|PARP_enzymes_that_bind_to_DNA 4 90 0 0 0 0 SNAP47 116841 broad.mit.edu 37 1 227935683 227935683 + Silent SNP C C T TCGA-CR-7367-01A-11D-2012-08 TCGA-CR-7367-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b82e34db-7b0e-4bbd-bc42-ba063ac42409 b93dc36c-99c1-4b6d-88c1-97d65bad89d2 g.chr1:227935683C>T uc001hrf.2 + 2 795 c.381C>T c.(379-381)TCC>TCT p.S127S SNAP47_uc001hqz.2_Silent_p.S82S|SNAP47_uc001hra.2_Intron|SNAP47_uc001hrd.2_Silent_p.S127S|SNAP47_uc001hre.2_Intron|SNAP47_uc001hrg.1_Silent_p.S82S NM_053052 NP_444280 Q5SQN1 SNP47_HUMAN synaptosomal-associated protein, 47kDa 127 endomembrane system|membrane|perinuclear region of cytoplasm ovary(1) 1 GGTTCAGCTCCCTGCGGCCAA 0.547 NA 8 90 0 0 0 0 GNPAT 8443 broad.mit.edu 37 1 231396372 231396372 + Missense_Mutation SNP C C A TCGA-CR-7367-01A-11D-2012-08 TCGA-CR-7367-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b82e34db-7b0e-4bbd-bc42-ba063ac42409 b93dc36c-99c1-4b6d-88c1-97d65bad89d2 g.chr1:231396372C>A uc001hup.3 + 3 587 c.381C>A c.(379-381)AGC>AGA p.S127R GNPAT_uc009xfo.1_Missense_Mutation_p.S18R|GNPAT_uc009xfp.2_Missense_Mutation_p.S66R NM_014236 NP_055051 O15228 GNPAT_HUMAN glyceronephosphate O-acyltransferase 127 ether lipid biosynthetic process|fatty acid metabolic process|organ morphogenesis peroxisomal matrix|peroxisomal membrane glycerone-phosphate O-acyltransferase activity ovary(3)|breast(1) 4 Breast(184;0.0871) all_cancers(173;0.2)|Prostate(94;0.183) TCACCCTGAGCAAAGTATTTA 0.363 NA 29 233 2.85e-18 5.15e-18 1 0 RYR2 6262 broad.mit.edu 37 1 237659856 237659856 + Silent SNP G G A TCGA-CR-7367-01A-11D-2012-08 TCGA-CR-7367-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b82e34db-7b0e-4bbd-bc42-ba063ac42409 b93dc36c-99c1-4b6d-88c1-97d65bad89d2 g.chr1:237659856G>A uc001hyl.1 + 20 2127 c.2007G>A c.(2005-2007)CAG>CAA p.Q669Q NM_001035 NP_001026 Q92736 RYR2_HUMAN cardiac muscle ryanodine receptor 669 Cytoplasmic (By similarity).|B30.2/SPRY 1. cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1) 33 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) GTTCTGCTCAGTATAAGAAAT 0.448 NA 13 59 0 0 0 0 AKT3 10000 broad.mit.edu 37 1 243708856 243708856 + Missense_Mutation SNP T T C TCGA-CR-7367-01A-11D-2012-08 TCGA-CR-7367-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b82e34db-7b0e-4bbd-bc42-ba063ac42409 b93dc36c-99c1-4b6d-88c1-97d65bad89d2 g.chr1:243708856T>C uc001iab.1 - 11 1288 c.1207A>G c.(1207-1209)AGT>GGT p.S403G AKT3_uc001hzz.1_Missense_Mutation_p.S403G NM_005465 NP_005456 Q9Y243 AKT3_HUMAN AKT3 kinase isoform 1 403 Protein kinase. signal transduction Golgi apparatus|nucleus|plasma membrane ATP binding|protein binding|protein serine/threonine kinase activity stomach(1)|lung(1)|breast(1)|central_nervous_system(1) 4 all_cancers(71;0.000307)|all_epithelial(71;0.000374)|all_lung(81;0.0323)|Ovarian(71;0.0619)|all_neural(11;0.101)|Lung NSC(105;0.168) all_cancers(173;0.0274) all cancers(7;4.3e-08)|GBM - Glioblastoma multiforme(7;5.12e-06)|OV - Ovarian serous cystadenocarcinoma(106;0.00196) GAGAAGAAACTGTGTCTCATA 0.328 NA 8 54 0 0 0 0 OR2L3 391192 broad.mit.edu 37 1 248223987 248223987 + Nonsense_Mutation SNP G G T TCGA-CR-7367-01A-11D-2012-08 TCGA-CR-7367-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b82e34db-7b0e-4bbd-bc42-ba063ac42409 b93dc36c-99c1-4b6d-88c1-97d65bad89d2 g.chr1:248223987G>T uc001idx.1 + 1 4 c.4G>T c.(4-6)GAA>TAA p.E2* OR2L13_uc001ids.2_Intron NM_001004687 NP_001004687 Q8NG85 OR2L3_HUMAN olfactory receptor, family 2, subfamily L, 2 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0278) ATGCCCCATGGAAAATTACAA 0.303 NA 30 119 5.77e-19 1.05e-18 1 0 OR2L3 391192 broad.mit.edu 37 1 248224181 248224181 + Silent SNP C C G TCGA-CR-7367-01A-11D-2012-08 TCGA-CR-7367-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b82e34db-7b0e-4bbd-bc42-ba063ac42409 b93dc36c-99c1-4b6d-88c1-97d65bad89d2 g.chr1:248224181C>G uc001idx.1 + 1 198 c.198C>G c.(196-198)TCC>TCG p.S66S OR2L13_uc001ids.2_Intron NM_001004687 NP_001004687 Q8NG85 OR2L3_HUMAN olfactory receptor, family 2, subfamily L, 66 Helical; Name=2; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0278) GTCAGCTCTCCCTCATTGACC 0.423 NA 39 326 0 0 0 0 ADARB2 105 broad.mit.edu 37 10 1405839 1405839 + Missense_Mutation SNP G G T TCGA-CR-7367-01A-11D-2012-08 TCGA-CR-7367-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b82e34db-7b0e-4bbd-bc42-ba063ac42409 b93dc36c-99c1-4b6d-88c1-97d65bad89d2 g.chr10:1405839G>T uc009xhq.2 - 3 835 c.461C>A c.(460-462)CCG>CAG p.P154Q NM_018702 NP_061172 Q9NS39 RED2_HUMAN adenosine deaminase, RNA-specific, B2 154 DRBM 1. mRNA processing mitochondrion|nucleus adenosine deaminase activity|double-stranded RNA binding|metal ion binding|single-stranded RNA binding large_intestine(2)|central_nervous_system(1) 3 all_epithelial(10;0.059)|Colorectal(49;0.0815) all cancers(11;0.0224)|GBM - Glioblastoma multiforme(2;0.0414)|Epithelial(11;0.165) CGCGAAGACCGGGGCATGCAC 0.692 NA 3 28 0.00024832 0.000390122 1 0 ACBD5 91452 broad.mit.edu 37 10 27493384 27493384 + Missense_Mutation SNP T T C TCGA-CR-7367-01A-11D-2012-08 TCGA-CR-7367-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b82e34db-7b0e-4bbd-bc42-ba063ac42409 b93dc36c-99c1-4b6d-88c1-97d65bad89d2 g.chr10:27493384T>C uc010qdp.1 - 12 1741 c.1550A>G c.(1549-1551)TAT>TGT p.Y517C ACBD5_uc010qdm.1_Missense_Mutation_p.Y515C|ACBD5_uc010qdn.1_Missense_Mutation_p.Y408C|ACBD5_uc010qdo.1_Missense_Mutation_p.Y340C|ACBD5_uc001ito.2_Missense_Mutation_p.Y482C|ACBD5_uc001itp.2_Missense_Mutation_p.Y408C|ACBD5_uc001itq.2_Missense_Mutation_p.Y408C|ACBD5_uc001itr.1_Missense_Mutation_p.Y306C NM_145698 NP_663736 Q5T8D3 ACBD5_HUMAN acyl-Coenzyme A binding domain containing 5 526 Helical; (Potential). transport integral to membrane|peroxisomal membrane fatty-acyl-CoA binding 0 CCTTCTTTGATAGTATAAATA 0.413 NA 6 32 0 0 0 0 ASAH2 56624 broad.mit.edu 37 10 52005019 52005019 + Missense_Mutation SNP C C T TCGA-CR-7367-01A-11D-2012-08 TCGA-CR-7367-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b82e34db-7b0e-4bbd-bc42-ba063ac42409 b93dc36c-99c1-4b6d-88c1-97d65bad89d2 g.chr10:52005019C>T uc001jjd.2 - 2 323 c.323G>A c.(322-324)CGA>CAA p.R108Q ASAH2_uc009xos.2_Missense_Mutation_p.R108Q NM_019893 NP_063946 Q9NR71 ASAH2_HUMAN N-acylsphingosine amidohydrolase 2 isoform a 108 Lumenal (Potential). apoptosis|ceramide metabolic process|signal transduction integral to membrane|mitochondrion|plasma membrane ceramidase activity 0 GCAGTCAGCTCGTCCAACACC 0.448 NA 34 210 0 0 0 0 UNC5B 219699 broad.mit.edu 37 10 73057778 73057778 + Missense_Mutation SNP A A G TCGA-CR-7367-01A-11D-2012-08 TCGA-CR-7367-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b82e34db-7b0e-4bbd-bc42-ba063ac42409 b93dc36c-99c1-4b6d-88c1-97d65bad89d2 g.chr10:73057778A>G uc001jro.2 + 16 3048 c.2603A>G c.(2602-2604)AAC>AGC p.N868S UNC5B_uc001jrp.2_Missense_Mutation_p.N857S|UNC5B_uc001jrq.1_5'Flank NM_170744 NP_734465 Q8IZJ1 UNC5B_HUMAN unc-5 homolog B precursor 868 Cytoplasmic (Potential).|Death. apoptosis|axon guidance|regulation of apoptosis integral to membrane ovary(2)|lung(1) 3 AAGATATGCAACAGCCTAGAT 0.572 NA 8 55 0 0 0 0 MKI67 4288 broad.mit.edu 37 10 129913914 129913914 + Missense_Mutation SNP T T G TCGA-CR-7367-01A-11D-2012-08 TCGA-CR-7367-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b82e34db-7b0e-4bbd-bc42-ba063ac42409 b93dc36c-99c1-4b6d-88c1-97d65bad89d2 g.chr10:129913914T>G uc001lke.2 - 7 953 c.758A>C c.(757-759)CAA>CCA p.Q253P MKI67_uc001lkf.2_Intron|MKI67_uc009yav.1_Intron|MKI67_uc009yaw.1_Intron NM_002417 NP_002408 P46013 KI67_HUMAN antigen identified by monoclonal antibody Ki-67 253 cell proliferation nucleolus ATP binding|protein C-terminus binding ovary(4)|central_nervous_system(2)|skin(1) 7 all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203) ATTTTCTTTTTGTGATTTTAC 0.373 NA 4 55 0 0 0 0 MGMT 4255 broad.mit.edu 37 10 131565165 131565165 + Missense_Mutation SNP G G T TCGA-CR-7367-01A-11D-2012-08 TCGA-CR-7367-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b82e34db-7b0e-4bbd-bc42-ba063ac42409 b93dc36c-99c1-4b6d-88c1-97d65bad89d2 g.chr10:131565165G>T uc001lkh.2 + 5 647 c.621G>T c.(619-621)TTG>TTT p.L207F NM_002412 NP_002403 P16455 MGMT_HUMAN O-6-methylguanine-DNA methyltransferase 176 ovary(1)|breast(1) 2 all_cancers(35;9.44e-09)|all_epithelial(44;6.98e-08)|Lung NSC(174;0.0157)|all_lung(145;0.0201)|all_neural(114;0.0732)|Colorectal(57;0.0792)|Breast(234;0.167) OV - Ovarian serous cystadenocarcinoma(35;0.00291) GCCACCGGTTGGGGAAGCCAG 0.662 NA Direct_reversal_of_damage 8 25 1.07e-07 1.8e-07 1 0 LRRC56 115399 broad.mit.edu 37 11 554064 554064 + Missense_Mutation SNP C C A TCGA-CR-7367-01A-11D-2012-08 TCGA-CR-7367-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b82e34db-7b0e-4bbd-bc42-ba063ac42409 b93dc36c-99c1-4b6d-88c1-97d65bad89d2 g.chr11:554064C>A uc010qvz.1 + 14 1922 c.1417C>A c.(1417-1419)CAG>AAG p.Q473K NM_198075 NP_932341 Q8IYG6 LRC56_HUMAN leucine rich repeat containing 56 473 skin(1) 1 all_cancers(49;2.16e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762) all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703) GACAGACCTGCAGTCCAGGGG 0.701 NA 17 96 9.17e-09 1.55e-08 1 0 OR51V1 283111 broad.mit.edu 37 11 5221490 5221490 + Missense_Mutation SNP A A C TCGA-CR-7367-01A-11D-2012-08 TCGA-CR-7367-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b82e34db-7b0e-4bbd-bc42-ba063ac42409 b93dc36c-99c1-4b6d-88c1-97d65bad89d2 g.chr11:5221490A>C uc010qyz.1 - 1 441 c.441T>G c.(439-441)AAT>AAG p.N147K NM_001004760 NP_001004760 Q9H2C8 O51V1_HUMAN olfactory receptor, family 51, subfamily V, 147 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(1) 1 Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212) Epithelial(150;2.83e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) TAATTCTGGAATTAGTCAGGA 0.398 NA 6 47 0 0 0 0 ANO3 63982 broad.mit.edu 37 11 26529781 26529781 + Missense_Mutation SNP G G A TCGA-CR-7367-01A-11D-2012-08 TCGA-CR-7367-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b82e34db-7b0e-4bbd-bc42-ba063ac42409 b93dc36c-99c1-4b6d-88c1-97d65bad89d2 g.chr11:26529781G>A uc001mqt.3 + 5 708 c.563G>A c.(562-564)AGA>AAA p.R188K ANO3_uc010rdr.1_Missense_Mutation_p.R172K|ANO3_uc010rds.1_Missense_Mutation_p.R42K|ANO3_uc010rdt.1_Missense_Mutation_p.R42K NM_031418 NP_113606 Q9BYT9 ANO3_HUMAN transmembrane protein 16C 188 Cytoplasmic (Potential). chloride channel complex chloride channel activity ovary(2)|central_nervous_system(1)|pancreas(1) 4 AAGAACCTCAGAGCAGAAGGC 0.318 NA 7 43 0 0 0 0 OR5M11 219487 broad.mit.edu 37 11 56310671 56310671 + Silent SNP C C T TCGA-CR-7367-01A-11D-2012-08 TCGA-CR-7367-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b82e34db-7b0e-4bbd-bc42-ba063ac42409 b93dc36c-99c1-4b6d-88c1-97d65bad89d2 g.chr11:56310671C>T uc010rjl.1 - 1 63 c.63G>A c.(61-63)CCG>CCA p.P21P NM_001005245 NP_001005245 Q96RB7 OR5MB_HUMAN olfactory receptor, family 5, subfamily M, 21 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 ACTGGAGTTCCGGGCAATCTG 0.458 NA 10 110 0 0 0 0 TNKS1BP1 85456 broad.mit.edu 37 11 57085295 57085295 + Silent SNP A A G TCGA-CR-7367-01A-11D-2012-08 TCGA-CR-7367-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b82e34db-7b0e-4bbd-bc42-ba063ac42409 b93dc36c-99c1-4b6d-88c1-97d65bad89d2 g.chr11:57085295A>G uc001njr.2 - 3 1107 c.795T>C c.(793-795)GCT>GCC p.A265A TNKS1BP1_uc001njs.2_Silent_p.A265A|TNKS1BP1_uc009ymd.1_5'UTR NM_033396 NP_203754 Q9C0C2 TB182_HUMAN tankyrase 1-binding protein 1 265 Pro-rich.|Acidic. nuclear-transcribed mRNA poly(A) tail shortening|telomere maintenance via telomerase cytoskeleton|cytosol|nuclear telomeric heterochromatin ankyrin binding|enzyme binding skin(1) 1 all_epithelial(135;0.21) AACTCACATCAGCAGGTAGCT 0.358 NA 8 23 0 0 0 0 CTNND1 1500 broad.mit.edu 37 11 57582974 57582974 + Splice_Site SNP T T C TCGA-CR-7367-01A-11D-2012-08 TCGA-CR-7367-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b82e34db-7b0e-4bbd-bc42-ba063ac42409 b93dc36c-99c1-4b6d-88c1-97d65bad89d2 g.chr11:57582974T>C uc001nmc.3 + 19 3379 c.2808_splice c.e19+2 p.M936_splice CTNND1_uc001nlh.1_Splice_Site_p.M936_splice|CTNND1_uc001nlu.3_Splice_Site_p.M829_splice|CTNND1_uc001nlt.3_Splice_Site_p.M829_splice|CTNND1_uc001nls.3_Splice_Site_p.M808_splice|CTNND1_uc001nlw.3_Splice_Site_p.M829_splice|CTNND1_uc001nmf.3_Splice_Site_p.M936_splice|CTNND1_uc001nmd.3_Splice_Site_p.M882_splice|CTNND1_uc001nlk.3_Splice_Site_p.M882_splice|CTNND1_uc001nme.3_Splice_Site_p.M930_splice|CTNND1_uc001nll.3_Splice_Site_p.M876_splice|CTNND1_uc001nmg.3_Splice_Site_p.M876_splice|CTNND1_uc001nlj.3_Splice_Site_p.M876_splice|CTNND1_uc001nlr.3_Splice_Site_p.M876_splice|CTNND1_uc001nlp.3_Splice_Site_p.M855_splice|CTNND1_uc001nlx.3_Splice_Site_p.M613_splice|CTNND1_uc001nlz.3_Splice_Site_p.M613_splice|CTNND1_uc009ymn.2_Splice_Site_p.M607_splice|CTNND1_uc001nlm.3_Splice_Site_p.M930_splice|CTNND1_uc001nly.3_Splice_Site_p.M607_splice|CTNND1_uc001nmb.3_Splice_Site_p.M607_splice|CTNND1_uc001nma.3_Splice_Site_p.M586_splice|CTNND1_uc001nmi.3_Splice_Site_p.M835_splice|CTNND1_uc001nmh.3_Splice_Site_p.M930_splice|CTNND1_uc001nlq.3_Splice_Site_p.M835_splice|CTNND1_uc001nln.3_Splice_Site_p.M930_splice|CTNND1_uc001nli.3_Splice_Site_p.M909_splice|CTNND1_uc001nlo.3_Splice_Site_p.M829_splice|CTNND1_uc001nlv.3_Splice_Site_p.M829_splice NM_001085458 NP_001078927 O60716 CTND1_HUMAN catenin, delta 1 isoform 1ABC adherens junction organization|cell junction assembly|negative regulation of canonical Wnt receptor signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent|Wnt receptor signaling pathway cytosol|midbody|nucleus cadherin binding|protein binding|receptor binding breast(4)|ovary(1)|kidney(1) 6 all_epithelial(135;0.155) CCCTTGATGGTAAATTCTCTT 0.413 NA 3 20 0 0 0 0 NUMA1 4926 broad.mit.edu 37 11 71729904 71729904 + Missense_Mutation SNP T T A TCGA-CR-7367-01A-11D-2012-08 TCGA-CR-7367-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b82e34db-7b0e-4bbd-bc42-ba063ac42409 b93dc36c-99c1-4b6d-88c1-97d65bad89d2 g.chr11:71729904T>A uc001orl.1 - 10 879 c.707A>T c.(706-708)GAG>GTG p.E236V NUMA1_uc009ysw.1_5'Flank|NUMA1_uc001ork.1_Missense_Mutation_p.E236V|NUMA1_uc001orm.1_Missense_Mutation_p.E236V|NUMA1_uc001orn.2_5'Flank|NUMA1_uc009ysx.1_Missense_Mutation_p.E236V|NUMA1_uc001oro.1_Missense_Mutation_p.E236V|NUMA1_uc009ysy.1_Missense_Mutation_p.E236V|NUMA1_uc001orp.2_Missense_Mutation_p.E236V|NUMA1_uc001orq.2_Missense_Mutation_p.E236V NM_006185 NP_006176 Q14980 NUMA1_HUMAN nuclear mitotic apparatus protein 1 236 Potential. G2/M transition of mitotic cell cycle|mitotic anaphase|nucleus organization chromosome|cytosol|nucleoplasm|spindle microtubule|spindle pole protein binding|structural molecule activity ovary(3)|lung(2)|skin(2)|central_nervous_system(1) 8 CTCAGCTAGCTCCAGCTCCAG 0.562 NA T RARA APL 22 110 0 0 0 0 RELT 84957 broad.mit.edu 37 11 73106507 73106507 + Missense_Mutation SNP C C T rs139368769 byFrequency TCGA-CR-7367-01A-11D-2012-08 TCGA-CR-7367-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b82e34db-7b0e-4bbd-bc42-ba063ac42409 b93dc36c-99c1-4b6d-88c1-97d65bad89d2 g.chr11:73106507C>T uc001otv.2 + 11 1429 c.1264C>T c.(1264-1266)CGG>TGG p.R422W RELT_uc001otw.2_Missense_Mutation_p.R422W|RELT_uc001otx.2_RNA NM_152222 NP_689408 Q969Z4 TR19L_HUMAN RELT tumor necrosis factor receptor precursor 422 Cytoplasmic (Potential). cytoplasm|integral to membrane|plasma membrane binding|receptor activity upper_aerodigestive_tract(1) 1 ctatgtggtccggctaagtga 0.129 NA 17 82 0 0 0 0 PIWIL4 143689 broad.mit.edu 37 11 94341767 94341767 + Missense_Mutation SNP G G A TCGA-CR-7367-01A-11D-2012-08 TCGA-CR-7367-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b82e34db-7b0e-4bbd-bc42-ba063ac42409 b93dc36c-99c1-4b6d-88c1-97d65bad89d2 g.chr11:94341767G>A uc001pfa.2 + 15 2069 c.1858G>A c.(1858-1860)GTC>ATC p.V620I PIWIL4_uc010rue.1_Intron|PIWIL4_uc009ywk.1_RNA NM_152431 NP_689644 Q7Z3Z4 PIWL4_HUMAN piwi-like 4 620 Piwi. cell differentiation|DNA methylation involved in gamete generation|gene silencing by RNA|meiosis|multicellular organismal development|piRNA metabolic process|regulation of translation|spermatogenesis nucleus|piP-body piRNA binding skin(1) 1 Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123) CCTGATGGTGGTCGGTATTGA 0.388 NA 33 102 0 0 0 0 OR6X1 390260 broad.mit.edu 37 11 123624803 123624803 + Missense_Mutation SNP G G T TCGA-CR-7367-01A-11D-2012-08 TCGA-CR-7367-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b82e34db-7b0e-4bbd-bc42-ba063ac42409 b93dc36c-99c1-4b6d-88c1-97d65bad89d2 g.chr11:123624803G>T uc010rzy.1 - 1 424 c.424C>A c.(424-426)CTG>ATG p.L142M NM_001005188 NP_001005188 Q8NH79 OR6X1_HUMAN olfactory receptor, family 6, subfamily X, 142 Helical; Name=4; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|skin(1) 3 Breast(109;0.0109)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279) CTCAGGGCCAGCTGCAGGCAG 0.507 NA 12 74 6.82e-15 1.2e-14 1 0 ANO2 57101 broad.mit.edu 37 12 5685021 5685021 + Missense_Mutation SNP T T C TCGA-CR-7367-01A-11D-2012-08 TCGA-CR-7367-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b82e34db-7b0e-4bbd-bc42-ba063ac42409 b93dc36c-99c1-4b6d-88c1-97d65bad89d2 g.chr12:5685021T>C uc001qnm.2 - 24 2672 c.2600A>G c.(2599-2601)GAC>GGC p.D867G NM_020373 NP_065106 Q9NQ90 ANO2_HUMAN anoctamin 2 872 Extracellular (Potential). chloride channel complex|plasma membrane intracellular calcium activated chloride channel activity ovary(4)|large_intestine(2)|central_nervous_system(1) 7 AACCTCCTGGTCAAACTGTGA 0.493 NA 5 40 0 0 0 0 ATN1 1822 broad.mit.edu 37 12 7048173 7048173 + Missense_Mutation SNP C C A TCGA-CR-7367-01A-11D-2012-08 TCGA-CR-7367-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b82e34db-7b0e-4bbd-bc42-ba063ac42409 b93dc36c-99c1-4b6d-88c1-97d65bad89d2 g.chr12:7048173C>A uc001qrw.1 + 7 3284 c.3047C>A c.(3046-3048)TCC>TAC p.S1016Y ATN1_uc001qrx.1_Missense_Mutation_p.S1016Y NM_001007026 NP_001007027 P54259 ATN1_HUMAN atrophin-1 1016 cell death|central nervous system development cytoplasm|nucleus protein domain specific binding ovary(2)|breast(2)|pancreas(1)|skin(1) 6 CCTGACATGTCCTATGCTGAG 0.667 NA 23 78 7.93e-12 1.37e-11 1 0 CD69 969 broad.mit.edu 37 12 9907188 9907188 + Missense_Mutation SNP G G T TCGA-CR-7367-01A-11D-2012-08 TCGA-CR-7367-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b82e34db-7b0e-4bbd-bc42-ba063ac42409 b93dc36c-99c1-4b6d-88c1-97d65bad89d2 g.chr12:9907188G>T uc001qwk.2 - 4 567 c.486C>A c.(484-486)AAC>AAA p.N162K CD69_uc010sgu.1_Missense_Mutation_p.N162K|CD69_uc010sgv.1_3'UTR NM_001781 NP_001772 Q07108 CD69_HUMAN CD69 molecule 162 C-type lectin.|Extracellular (Potential). integral to plasma membrane sugar binding|transmembrane receptor activity 0 CTTACCAGTTGTTAAATTCTT 0.413 NA 38 123 9.81e-26 1.8e-25 1 0 CAPRIN2 65981 broad.mit.edu 37 12 30877333 30877333 + Missense_Mutation SNP G G T TCGA-CR-7367-01A-11D-2012-08 TCGA-CR-7367-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b82e34db-7b0e-4bbd-bc42-ba063ac42409 b93dc36c-99c1-4b6d-88c1-97d65bad89d2 g.chr12:30877333G>T uc001rji.1 - 10 2709 c.1958C>A c.(1957-1959)CCG>CAG p.P653Q CAPRIN2_uc001rjf.1_Missense_Mutation_p.P450Q|CAPRIN2_uc001rjg.1_Missense_Mutation_p.P320Q|CAPRIN2_uc001rjh.1_Missense_Mutation_p.P653Q|CAPRIN2_uc001rjj.1_Missense_Mutation_p.P320Q|CAPRIN2_uc001rjk.3_Missense_Mutation_p.P653Q|CAPRIN2_uc001rjl.3_Missense_Mutation_p.P653Q|CAPRIN2_uc001rjm.1_Missense_Mutation_p.P320Q NM_001002259 NP_001002259 Q6IMN6 CAPR2_HUMAN C1q domain containing 1 isoform 1 653 negative regulation of cell growth|negative regulation of translation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of dendrite morphogenesis|positive regulation of dendritic spine morphogenesis|positive regulation of peptidyl-serine phosphorylation|positive regulation of protein binding|positive regulation of transcription from RNA polymerase II promoter mitochondrion|receptor complex receptor binding|RNA binding ovary(1)|central_nervous_system(1) 2 all_lung(12;1.13e-09)|Lung NSC(12;7.98e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233) AGCTGAAGGCGGTTGTGACGT 0.388 NA 4 26 0.000602214 0.000936068 1 0 ADAMTS20 80070 broad.mit.edu 37 12 43822059 43822059 + Silent SNP G G A TCGA-CR-7367-01A-11D-2012-08 TCGA-CR-7367-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b82e34db-7b0e-4bbd-bc42-ba063ac42409 b93dc36c-99c1-4b6d-88c1-97d65bad89d2 g.chr12:43822059G>A uc010skx.1 - 26 3930 c.3930C>T c.(3928-3930)ACC>ACT p.T1310T ADAMTS20_uc001rno.1_Silent_p.T428T|ADAMTS20_uc001rnp.1_Silent_p.T464T NM_025003 NP_079279 P59510 ATS20_HUMAN a disintegrin-like and metalloprotease with 1310 TSP type-1 9. proteinaceous extracellular matrix zinc ion binding central_nervous_system(5)|ovary(4)|lung(3)|large_intestine(2)|skin(2)|urinary_tract(1)|kidney(1)|pancreas(1) 19 all_cancers(12;2.6e-05)|Lung SC(27;0.184) Lung NSC(34;0.0569)|all_lung(34;0.129) GBM - Glioblastoma multiforme(48;0.0473) CCCATGGTCCGGTTCTCCACT 0.358 NA 10 92 0 0 0 0 ITGB7 3695 broad.mit.edu 37 12 53590515 53590515 + Missense_Mutation SNP G G A TCGA-CR-7367-01A-11D-2012-08 TCGA-CR-7367-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b82e34db-7b0e-4bbd-bc42-ba063ac42409 b93dc36c-99c1-4b6d-88c1-97d65bad89d2 g.chr12:53590515G>A uc009zmv.2 - 5 735 c.664C>T c.(664-666)CGC>TGC p.R222C ITGB7_uc001scc.2_Missense_Mutation_p.R222C|ITGB7_uc010snz.1_RNA|ITGB7_uc010soa.1_3'UTR NM_000889 NP_000880 P26010 ITB7_HUMAN integrin, beta 7 precursor 222 VWFA.|Extracellular (Potential). cell-matrix adhesion|integrin-mediated signaling pathway|multicellular organismal development|regulation of immune response integrin complex identical protein binding|metal ion binding|receptor activity ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)|breast(1) 8 GACTGGCAGCGCTCCAGCCGG 0.617 NA 8 15 0 0 0 0 ESYT1 23344 broad.mit.edu 37 12 56528126 56528126 + Missense_Mutation SNP G G A TCGA-CR-7367-01A-11D-2012-08 TCGA-CR-7367-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b82e34db-7b0e-4bbd-bc42-ba063ac42409 b93dc36c-99c1-4b6d-88c1-97d65bad89d2 g.chr12:56528126G>A uc001sjq.2 + 15 1596 c.1546G>A c.(1546-1548)GCT>ACT p.A516T ESYT1_uc001sjr.2_Missense_Mutation_p.A526T NM_015292 NP_056107 Q9BSJ8 ESYT1_HUMAN extended synaptotagmin-like protein 1 516 C2 2. integral to membrane p.A516G(1) ovary(4)|skin(1) 5 ACATCTCCAGGCTGTCTACAG 0.502 NA 35 104 0 0 0 0 LRP1 4035 broad.mit.edu 37 12 57604546 57604546 + Missense_Mutation SNP G G A TCGA-CR-7367-01A-11D-2012-08 TCGA-CR-7367-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b82e34db-7b0e-4bbd-bc42-ba063ac42409 b93dc36c-99c1-4b6d-88c1-97d65bad89d2 g.chr12:57604546G>A uc001snd.2 + 83 13266 c.12800G>A c.(12799-12801)TGC>TAC p.C4267Y NM_002332 NP_002323 Q07954 LRP1_HUMAN low density lipoprotein-related protein 1 4267 EGF-like 18.|Extracellular (Potential). aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity coated pit|integral to plasma membrane|nucleus apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity ovary(8)|lung(3)|breast(3)|large_intestine(2)|central_nervous_system(2)|skin(2)|pancreas(2) 22 BRCA - Breast invasive adenocarcinoma(357;0.0103) Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031) GGCCCCAAATGCACCCAGCAG 0.667 NA 14 90 0 0 0 0 TMBIM4 51643 broad.mit.edu 37 12 66531827 66531827 + Silent SNP G G A TCGA-CR-7367-01A-11D-2012-08 TCGA-CR-7367-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b82e34db-7b0e-4bbd-bc42-ba063ac42409 b93dc36c-99c1-4b6d-88c1-97d65bad89d2 g.chr12:66531827G>A uc001stc.2 - 7 706 c.630C>T c.(628-630)TAC>TAT p.Y210Y LLPH_uc010ssx.1_RNA|TMBIM4_uc001std.2_Silent_p.Y179Y|TMBIM4_uc009zqr.2_Silent_p.Y257Y|TMBIM4_uc001ste.2_RNA|TMBIM4_uc001stf.2_3'UTR|TMBIM4_uc009zqs.2_3'UTR NM_016056 NP_057140 Q9HC24 TMBI4_HUMAN transmembrane BAX inhibitor motif containing 4 210 Helical; (Potential). integral to membrane protein binding ovary(1)|central_nervous_system(1) 2 GBM - Glioblastoma multiforme(28;0.0745) CAGCTAATACGTACTCTTCAG 0.413 NA 25 47 0 0 0 0 C12orf63 374467 broad.mit.edu 37 12 97043804 97043804 + Missense_Mutation SNP T T C TCGA-CR-7367-01A-11D-2012-08 TCGA-CR-7367-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b82e34db-7b0e-4bbd-bc42-ba063ac42409 b93dc36c-99c1-4b6d-88c1-97d65bad89d2 g.chr12:97043804T>C uc001tet.1 + 2 179 c.101T>C c.(100-102)GTA>GCA p.V34A NM_198520 NP_940922 Q6ZTY8 CL063_HUMAN hypothetical protein LOC374467 34 skin(6)|ovary(1) 7 AATTTGTGTGTAATGGATCAT 0.308 NA 10 52 0 0 0 0 ACAD10 80724 broad.mit.edu 37 12 112150407 112150407 + Missense_Mutation SNP C C T TCGA-CR-7367-01A-11D-2012-08 TCGA-CR-7367-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b82e34db-7b0e-4bbd-bc42-ba063ac42409 b93dc36c-99c1-4b6d-88c1-97d65bad89d2 g.chr12:112150407C>T uc001tsq.2 + 6 996 c.796C>T c.(796-798)CCG>TCG p.P266S ACAD10_uc001tso.3_Missense_Mutation_p.P266S|ACAD10_uc001tsp.2_Missense_Mutation_p.P266S|ACAD10_uc009zvx.2_Missense_Mutation_p.P297S|ACAD10_uc001tsr.2_Missense_Mutation_p.P4S|ACAD10_uc001tss.1_5'Flank NM_025247 NP_079523 Q6JQN1 ACD10_HUMAN acyl-Coenzyme A dehydrogenase family, member 10 266 acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding|hydrolase activity|transferase activity, transferring phosphorus-containing groups ovary(2) 2 GATGGAAATTCCGAAAGATTC 0.453 NA 30 197 0 0 0 0 VSIG10 54621 broad.mit.edu 37 12 118517157 118517157 + Missense_Mutation SNP G G T TCGA-CR-7367-01A-11D-2012-08 TCGA-CR-7367-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b82e34db-7b0e-4bbd-bc42-ba063ac42409 b93dc36c-99c1-4b6d-88c1-97d65bad89d2 g.chr12:118517157G>T uc001tws.2 - 4 1253 c.919C>A c.(919-921)CAG>AAG p.Q307K NM_019086 NP_061959 Q8N0Z9 VSI10_HUMAN V-set and immunoglobulin domain containing 10 307 Ig-like C2-type 3.|Extracellular (Potential). integral to membrane 0 TCACTGATCTGCACCATGCAG 0.517 NA 6 64 2.01e-06 3.33e-06 1 0 DHX37 57647 broad.mit.edu 37 12 125470690 125470690 + Silent SNP C C T TCGA-CR-7367-01A-11D-2012-08 TCGA-CR-7367-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b82e34db-7b0e-4bbd-bc42-ba063ac42409 b93dc36c-99c1-4b6d-88c1-97d65bad89d2 g.chr12:125470690C>T uc001ugy.2 - 2 327 c.228G>A c.(226-228)GAG>GAA p.E76E NM_032656 NP_116045 Q8IY37 DHX37_HUMAN DEAH (Asp-Glu-Ala-His) box polypeptide 37 76 ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding skin(1) 1 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;8.05e-05)|Epithelial(86;0.000486)|all cancers(50;0.00653) GCACTTTCTTCTCCTTCTTGG 0.512 NA 77 114 0 0 0 0 CDK8 1024 broad.mit.edu 37 13 26971342 26971342 + Missense_Mutation SNP G G A TCGA-CR-7367-01A-11D-2012-08 TCGA-CR-7367-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b82e34db-7b0e-4bbd-bc42-ba063ac42409 b93dc36c-99c1-4b6d-88c1-97d65bad89d2 g.chr13:26971342G>A uc001uqr.1 + 9 939 c.913G>A c.(913-915)GAT>AAT p.D305N CDK8_uc001uqs.1_Missense_Mutation_p.D305N|CDK8_uc001uqt.1_Missense_Mutation_p.D132N NM_001260 NP_001251 P49336 CDK8_HUMAN cyclin-dependent kinase 8 305 Protein kinase. regulation of transcription, DNA-dependent|transcription, DNA-dependent mediator complex ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity lung(2)|large_intestine(1)|ovary(1)|skin(1) 5 Colorectal(5;0.000442) Lung SC(185;0.0156)|Breast(139;0.147) all cancers(112;0.0384)|Epithelial(112;0.142)|OV - Ovarian serous cystadenocarcinoma(117;0.188) AGTTAAACCAGATAGTAAAGC 0.318 NA 10 32 0 0 0 0 DGKH 160851 broad.mit.edu 37 13 42803280 42803280 + Missense_Mutation SNP G G A TCGA-CR-7367-01A-11D-2012-08 TCGA-CR-7367-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b82e34db-7b0e-4bbd-bc42-ba063ac42409 b93dc36c-99c1-4b6d-88c1-97d65bad89d2 g.chr13:42803280G>A uc001uyl.1 + 30 3640 c.3619G>A c.(3619-3621)GGA>AGA p.G1207R DGKH_uc010tfh.1_Missense_Mutation_p.G1163E|DGKH_uc001uym.1_Missense_Mutation_p.G1163E|DGKH_uc010tfi.1_Missense_Mutation_p.G918E|DGKH_uc010tfj.1_Missense_Mutation_p.G1062R|DGKH_uc001uyn.1_RNA|DGKH_uc001uyo.1_Missense_Mutation_p.G1078R|DGKH_uc001uyp.2_RNA NM_178009 NP_821077 Q86XP1 DGKH_HUMAN diacylglycerol kinase, eta isoform 2 1207 SAM. activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation|protein oligomerization endosome|plasma membrane ATP binding|diacylglycerol kinase activity|metal ion binding ovary(2) 2 Lung NSC(96;1.02e-05)|Prostate(109;0.0168)|Lung SC(185;0.0262)|Breast(139;0.0709)|Hepatocellular(98;0.114) OV - Ovarian serous cystadenocarcinoma(117;5.88e-05)|GBM - Glioblastoma multiforme(144;0.000935)|BRCA - Breast invasive adenocarcinoma(63;0.109) AATTCTCCAGGGAATTAAAGA 0.323 NA 14 82 0 0 0 0 CLN5 1203 broad.mit.edu 37 13 77566263 77566263 + Silent SNP C C T TCGA-CR-7367-01A-11D-2012-08 TCGA-CR-7367-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b82e34db-7b0e-4bbd-bc42-ba063ac42409 b93dc36c-99c1-4b6d-88c1-97d65bad89d2 g.chr13:77566263C>T uc001vkc.2 + 1 205 c.177C>T c.(175-177)GGC>GGT p.G59G NM_006493 NP_006484 O75503 CLN5_HUMAN ceroid-lipofuscinosis, neuronal 5 10 brain development|cell death|lysosomal lumen acidification|neuron maturation|protein catabolic process endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosomal membrane|perinuclear region of cytoplasm protein binding ovary(1) 1 Acute lymphoblastic leukemia(28;0.205) GBM - Glioblastoma multiforme(99;0.0503) CGGCACAGGGCGCCGAGATgc 0.642 NA 7 23 0 0 0 0 EDNRB 1910 broad.mit.edu 37 13 78477688 78477688 + Missense_Mutation SNP T T C TCGA-CR-7367-01A-11D-2012-08 TCGA-CR-7367-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b82e34db-7b0e-4bbd-bc42-ba063ac42409 b93dc36c-99c1-4b6d-88c1-97d65bad89d2 g.chr13:78477688T>C uc001vko.2 - 2 796 c.538A>G c.(538-540)ATA>GTA p.I180V EDNRB_uc001vkq.1_Missense_Mutation_p.I180V|uc001vkn.1_Intron|EDNRB_uc010aez.1_Missense_Mutation_p.I180V|EDNRB_uc001vkp.1_Missense_Mutation_p.I263V NM_001122659 NP_001116131 P24530 EDNRB_HUMAN endothelin receptor type B isoform 1 precursor 180 Helical; Name=3; (Potential). activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|enteric nervous system development|enteric smooth muscle cell differentiation|macrophage chemotaxis|negative regulation of adenylate cyclase activity|negative regulation of cellular protein metabolic process|negative regulation of neuron maturation|negative regulation of transcription from RNA polymerase II promoter|vein smooth muscle contraction integral to plasma membrane endothelin-B receptor activity|peptide hormone binding 0 Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.037) GBM - Glioblastoma multiforme(99;0.0933) Bosentan(DB00559) GCTTTCTGTATGAAAGGCACC 0.443 NA 33 53 0 0 0 0 SLITRK1 114798 broad.mit.edu 37 13 84453689 84453689 + Nonsense_Mutation SNP G G A TCGA-CR-7367-01A-11D-2012-08 TCGA-CR-7367-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b82e34db-7b0e-4bbd-bc42-ba063ac42409 b93dc36c-99c1-4b6d-88c1-97d65bad89d2 g.chr13:84453689G>A uc001vlk.2 - 1 2840 c.1954C>T c.(1954-1956)CGA>TGA p.R652* NM_052910 NP_443142 Q96PX8 SLIK1_HUMAN slit and trk like 1 protein precursor 652 Cytoplasmic (Potential). integral to membrane ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1) 5 Medulloblastoma(90;0.18) Breast(118;0.212) GBM - Glioblastoma multiforme(99;0.07) TTGGCATCTCGTCTCTTGGAC 0.572 NA 13 47 0 0 0 0 ERCC5 2073 broad.mit.edu 37 13 103518238 103518238 + Missense_Mutation SNP C C T TCGA-CR-7367-01A-11D-2012-08 TCGA-CR-7367-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b82e34db-7b0e-4bbd-bc42-ba063ac42409 b93dc36c-99c1-4b6d-88c1-97d65bad89d2 g.chr13:103518238C>T uc001vpw.2 + 9 2619 c.2176C>T c.(2176-2178)CAT>TAT p.H726Y ERCC5_uc001vpu.1_Missense_Mutation_p.H1180Y|ERCC5_uc010tjb.1_Missense_Mutation_p.H726Y|ERCC5_uc010tjc.1_RNA|ERCC5_uc010tjd.1_Missense_Mutation_p.H558Y NM_000123 NP_000114 P28715 ERCC5_HUMAN XPG-complementing protein 726 negative regulation of apoptosis|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision, 3'-to lesion|response to UV-C|transcription-coupled nucleotide-excision repair|UV protection nucleoplasm bubble DNA binding|double-stranded DNA binding|endodeoxyribonuclease activity|metal ion binding|protein homodimerization activity|protein N-terminus binding|single-stranded DNA binding ovary(4)|lung(1)|central_nervous_system(1)|skin(1) 7 all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.211) AGATTCGCTCCATGAATGGCA 0.483 NA Mis|N|F skin basal cell|skin squamous cell|melanoma Direct_reversal_of_damage|NER Xeroderma_Pigmentosum 9 48 0 0 0 0 FAM155A 728215 broad.mit.edu 37 13 108518140 108518140 + Missense_Mutation SNP G G T TCGA-CR-7367-01A-11D-2012-08 TCGA-CR-7367-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b82e34db-7b0e-4bbd-bc42-ba063ac42409 b93dc36c-99c1-4b6d-88c1-97d65bad89d2 g.chr13:108518140G>T uc001vql.2 - 1 1321 c.805C>A c.(805-807)CAG>AAG p.Q269K NM_001080396 NP_001073865 B1AL88 F155A_HUMAN family with sequence similarity 155, member A 269 integral to membrane binding skin(1) 1 TCATAGTCCTGGTAAGCCTCG 0.522 NA 22 119 2.52e-20 4.59e-20 1 0 CMA1 1215 broad.mit.edu 37 14 24974805 24974805 + Missense_Mutation SNP G G A TCGA-CR-7367-01A-11D-2012-08 TCGA-CR-7367-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b82e34db-7b0e-4bbd-bc42-ba063ac42409 b93dc36c-99c1-4b6d-88c1-97d65bad89d2 g.chr14:24974805G>A uc001wpp.1 - 5 691 c.661C>T c.(661-663)CGG>TGG p.R221W CMA1_uc010alx.1_Missense_Mutation_p.R110W NM_001836 NP_001827 P23946 CMA1_HUMAN chymase 1, mast cell preproprotein 221 Peptidase S1. interleukin-1 beta biosynthetic process|proteolysis extracellular region serine-type endopeptidase activity 0 GBM - Glioblastoma multiforme(265;0.0271) GCATCCGACCGTCCATAGGAT 0.592 NA 9 62 0 0 0 0 KCNH5 27133 broad.mit.edu 37 14 63269189 63269189 + Silent SNP G G T rs114074278 byFrequency TCGA-CR-7367-01A-11D-2012-08 TCGA-CR-7367-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b82e34db-7b0e-4bbd-bc42-ba063ac42409 b93dc36c-99c1-4b6d-88c1-97d65bad89d2 g.chr14:63269189G>T uc001xfx.2 - 9 1731 c.1680C>A c.(1678-1680)CGC>CGA p.R560R KCNH5_uc001xfy.2_Silent_p.R560R|KCNH5_uc001xfz.1_Silent_p.R502R NM_139318 NP_647479 Q8NCM2 KCNH5_HUMAN potassium voltage-gated channel, subfamily H, 560 cNMP.|Cytoplasmic (Potential). regulation of transcription, DNA-dependent integral to membrane calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity ovary(4)|skin(4)|central_nervous_system(1) 9 OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168) CCGCCAAGGCGCGCAGACACC 0.507 NA 11 89 1.59e-06 2.64e-06 1 0 SYNE2 23224 broad.mit.edu 37 14 64496701 64496701 + Missense_Mutation SNP T T C TCGA-CR-7367-01A-11D-2012-08 TCGA-CR-7367-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b82e34db-7b0e-4bbd-bc42-ba063ac42409 b93dc36c-99c1-4b6d-88c1-97d65bad89d2 g.chr14:64496701T>C uc001xgm.2 + 44 7033 c.6803T>C c.(6802-6804)TTC>TCC p.F2268S SYNE2_uc001xgl.2_Missense_Mutation_p.F2268S NM_015180 NP_055995 Q8WXH0 SYNE2_HUMAN spectrin repeat containing, nuclear envelope 2 2268 Cytoplasmic (Potential). centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc actin binding|protein binding ovary(8)|breast(4)|central_nervous_system(1)|pancreas(1) 14 all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681) TTGGACAATTTCTCCAAGGAA 0.408 NA 3 35 0 0 0 0 TLN2 83660 broad.mit.edu 37 15 62939593 62939593 + Nonsense_Mutation SNP C C G TCGA-CR-7367-01A-11D-2012-08 TCGA-CR-7367-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b82e34db-7b0e-4bbd-bc42-ba063ac42409 b93dc36c-99c1-4b6d-88c1-97d65bad89d2 g.chr15:62939593C>G uc002alb.3 + 1 84 c.84C>G c.(82-84)TAC>TAG p.Y28* MGC15885_uc010uib.1_5'Flank|MGC15885_uc002ala.3_5'Flank NM_015059 NP_055874 Q9Y4G6 TLN2_HUMAN talin 2 28 cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane actin cytoskeleton|cytoplasm|focal adhesion|ruffle|synapse actin binding|insulin receptor binding|structural constituent of cytoskeleton ovary(5)|upper_aerodigestive_tract(2)|lung(2)|breast(2) 11 CAGCTGTGTACGATGCGTGTC 0.488 NA 19 119 0 0 0 0 SOLH 6650 broad.mit.edu 37 16 596993 596993 + Missense_Mutation SNP G G A TCGA-CR-7367-01A-11D-2012-08 TCGA-CR-7367-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b82e34db-7b0e-4bbd-bc42-ba063ac42409 b93dc36c-99c1-4b6d-88c1-97d65bad89d2 g.chr16:596993G>A uc002chi.2 + 4 518 c.155G>A c.(154-156)CGC>CAC p.R52H SOLH_uc002chh.1_Missense_Mutation_p.R52H NM_005632 NP_005623 O75808 CAN15_HUMAN small optic lobes 52 RanBP2-type 2. proteolysis intracellular calcium-dependent cysteine-type endopeptidase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1)|breast(1) 2 Hepatocellular(780;0.00335) CCCTGCGCCCGCTGCACCTTC 0.692 NA 5 40 0 0 0 0 ATP6V0C 527 broad.mit.edu 37 16 2569563 2569563 + Silent SNP C C T TCGA-CR-7367-01A-11D-2012-08 TCGA-CR-7367-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b82e34db-7b0e-4bbd-bc42-ba063ac42409 b93dc36c-99c1-4b6d-88c1-97d65bad89d2 g.chr16:2569563C>T uc002cqn.2 + 3 437 c.285C>T c.(283-285)GCC>GCT p.A95A TBC1D24_uc002cqm.2_3'UTR|ATP6V0C_uc002cqo.2_Silent_p.A52A|AMDHD2_uc002cqp.2_5'Flank|AMDHD2_uc002cqq.2_5'Flank|AMDHD2_uc010uwc.1_5'Flank|AMDHD2_uc010uwd.1_5'Flank NM_001694 NP_001685 P27449 VATL_HUMAN ATPase, H+ transporting, lysosomal, V0 subunit 95 Helical; (Potential). ATP hydrolysis coupled proton transport|ATP synthesis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|interspecies interaction between organisms|transferrin transport endosome membrane|integral to membrane|proton-transporting ATP synthase complex, coupling factor F(o)|proton-transporting V-type ATPase, V0 domain|vacuolar membrane hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism|ubiquitin protein ligase binding ovary(1) 1 Ovarian(90;0.17) AGCTGGGCGCCGGCCTGAGCG 0.701 NA 19 39 0 0 0 0 TXNDC11 51061 broad.mit.edu 37 16 11792153 11792153 + Missense_Mutation SNP G G A TCGA-CR-7367-01A-11D-2012-08 TCGA-CR-7367-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b82e34db-7b0e-4bbd-bc42-ba063ac42409 b93dc36c-99c1-4b6d-88c1-97d65bad89d2 g.chr16:11792153G>A uc010buu.1 - 8 1078 c.1016C>T c.(1015-1017)ACA>ATA p.T339I TXNDC11_uc002dbg.1_Missense_Mutation_p.T312I NM_015914 NP_056998 Q6PKC3 TXD11_HUMAN thioredoxin domain containing 11 339 cell redox homeostasis endoplasmic reticulum membrane|integral to membrane 0 GTTCTCAGCTGTGTAGTTCAG 0.552 NA 12 34 0 0 0 0 PDXDC1 23042 broad.mit.edu 37 16 15127244 15127244 + Silent SNP G G A TCGA-CR-7367-01A-11D-2012-08 TCGA-CR-7367-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b82e34db-7b0e-4bbd-bc42-ba063ac42409 b93dc36c-99c1-4b6d-88c1-97d65bad89d2 g.chr16:15127244G>A uc002dda.3 + 19 2024 c.1800G>A c.(1798-1800)GAG>GAA p.E600E PDXDC1_uc010uzl.1_Silent_p.E585E|PDXDC1_uc010uzm.1_Silent_p.E509E|PDXDC1_uc002ddb.3_Silent_p.E573E|PDXDC1_uc010uzn.1_Silent_p.E572E|PDXDC1_uc002ddc.2_Intron NM_015027 NP_055842 Q6P996 PDXD1_HUMAN pyridoxal-dependent decarboxylase domain 600 carboxylic acid metabolic process carboxy-lyase activity|protein binding|pyridoxal phosphate binding skin(1) 1 Pyridoxal Phosphate(DB00114) GGGAGATAGAGGAGAACTCGA 0.567 NA 33 101 0 0 0 0 ACSM2A 123876 broad.mit.edu 37 16 20486734 20486734 + Silent SNP C C T TCGA-CR-7367-01A-11D-2012-08 TCGA-CR-7367-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b82e34db-7b0e-4bbd-bc42-ba063ac42409 b93dc36c-99c1-4b6d-88c1-97d65bad89d2 g.chr16:20486734C>T uc010bwe.2 + 8 1184 c.945C>T c.(943-945)TAC>TAT p.Y315Y ACSM2A_uc010bwd.1_RNA|ACSM2A_uc010vax.1_Silent_p.Y236Y|ACSM2A_uc002dhf.3_Silent_p.Y315Y|ACSM2A_uc002dhg.3_Silent_p.Y315Y|ACSM2A_uc010vay.1_Silent_p.Y236Y|ACSM2A_uc002dhh.3_5'Flank NM_001010845 NP_001010845 Q08AH3 ACS2A_HUMAN acyl-CoA synthetase medium-chain family member 315 fatty acid metabolic process mitochondrial matrix ATP binding|butyrate-CoA ligase activity|metal ion binding skin(2)|breast(1) 3 CCATTGTTTACCGGATGTTGC 0.512 NA 26 104 0 0 0 0 GTF3C1 2975 broad.mit.edu 37 16 27549582 27549582 + Missense_Mutation SNP A A T TCGA-CR-7367-01A-11D-2012-08 TCGA-CR-7367-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b82e34db-7b0e-4bbd-bc42-ba063ac42409 b93dc36c-99c1-4b6d-88c1-97d65bad89d2 g.chr16:27549582A>T uc002dov.1 - 3 567 c.527T>A c.(526-528)TTC>TAC p.F176Y GTF3C1_uc002dou.2_Missense_Mutation_p.F176Y NM_001520 NP_001511 Q12789 TF3C1_HUMAN general transcription factor IIIC, polypeptide 176 transcription factor TFIIIC complex DNA binding|protein binding ovary(2)|pancreas(1)|breast(1)|skin(1) 5 GCAGTAGGAGAAGTCGGGCAG 0.602 NA 16 93 0 0 0 0 DOC2A 8448 broad.mit.edu 37 16 30018259 30018259 + Missense_Mutation SNP G G A TCGA-CR-7367-01A-11D-2012-08 TCGA-CR-7367-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b82e34db-7b0e-4bbd-bc42-ba063ac42409 b93dc36c-99c1-4b6d-88c1-97d65bad89d2 g.chr16:30018259G>A uc002dvm.2 - 8 825 c.725C>T c.(724-726)GCG>GTG p.A242V uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|DOC2A_uc002dvl.2_Missense_Mutation_p.A240V|DOC2A_uc002dvn.2_Missense_Mutation_p.A242V|DOC2A_uc010vef.1_RNA|DOC2A_uc002dvo.2_Missense_Mutation_p.A242V|DOC2A_uc002dvp.2_Missense_Mutation_p.A242V|DOC2A_uc002dvq.2_Missense_Mutation_p.A242V NM_003586 NP_003577 Q14183 DOC2A_HUMAN double C2-like domains, alpha 242 Interaction with UNC13D. nervous system development|regulation of calcium ion-dependent exocytosis cell junction|lysosome|synaptic vesicle membrane|synaptosome calcium-dependent phospholipid binding|protein binding|transporter activity ovary(2) 2 CCCCTGCTCCGCCTGCTCCAA 0.682 NA 8 22 0 0 0 0 SETD1A 9739 broad.mit.edu 37 16 30995053 30995053 + Missense_Mutation SNP A A C TCGA-CR-7367-01A-11D-2012-08 TCGA-CR-7367-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b82e34db-7b0e-4bbd-bc42-ba063ac42409 b93dc36c-99c1-4b6d-88c1-97d65bad89d2 g.chr16:30995053A>C uc002ead.1 + 18 5596 c.4910A>C c.(4909-4911)AAG>ACG p.K1637T HSD3B7_uc002eaf.2_5'Flank|HSD3B7_uc010cac.2_5'Flank|HSD3B7_uc002eag.2_5'Flank|HSD3B7_uc002eah.2_5'Flank NM_014712 NP_055527 O15047 SET1A_HUMAN SET domain containing 1A 1637 SET. regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nuclear speck|Set1C/COMPASS complex histone-lysine N-methyltransferase activity|nucleotide binding|protein binding|RNA binding ovary(2)|skin(1) 3 GATGCCACCAAGTGTGGCAAC 0.652 NA 10 37 0 0 0 0 N4BP1 9683 broad.mit.edu 37 16 48580115 48580115 + Missense_Mutation SNP G G T TCGA-CR-7367-01A-11D-2012-08 TCGA-CR-7367-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b82e34db-7b0e-4bbd-bc42-ba063ac42409 b93dc36c-99c1-4b6d-88c1-97d65bad89d2 g.chr16:48580115G>T uc002efp.2 - 6 2513 c.2276C>A c.(2275-2277)CCT>CAT p.P759H NM_153029 NP_694574 O75113 N4BP1_HUMAN Nedd4 binding protein 1 759 negative regulation of proteasomal ubiquitin-dependent protein catabolic process|negative regulation of protein ubiquitination nucleolus|PML body 0 all_cancers(37;0.179)|all_lung(18;0.11) TCTTCCCAGAGGATCATCGGG 0.458 NA 20 75 2.89e-11 4.95e-11 1 0 SETD6 79918 broad.mit.edu 37 16 58552440 58552440 + Missense_Mutation SNP C C T TCGA-CR-7367-01A-11D-2012-08 TCGA-CR-7367-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b82e34db-7b0e-4bbd-bc42-ba063ac42409 b93dc36c-99c1-4b6d-88c1-97d65bad89d2 g.chr16:58552440C>T uc002ens.2 + 7 1168 c.1109C>T c.(1108-1110)ACA>ATA p.T370I SETD6_uc002enr.2_Missense_Mutation_p.T346I|SETD6_uc010cdm.2_RNA NM_001160305 NP_001153777 Q8TBK2 SETD6_HUMAN SET domain containing 6 isoform a 370 negative regulation of NF-kappaB transcription factor activity|peptidyl-lysine monomethylation|regulation of inflammatory response nucleus NF-kappaB binding|protein-lysine N-methyltransferase activity ovary(1) 1 CTGACCACCACACTAAAGGTA 0.443 NA 8 55 0 0 0 0 CNTROB 116840 broad.mit.edu 37 17 7847811 7847811 + Missense_Mutation SNP C C T TCGA-CR-7367-01A-11D-2012-08 TCGA-CR-7367-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b82e34db-7b0e-4bbd-bc42-ba063ac42409 b93dc36c-99c1-4b6d-88c1-97d65bad89d2 g.chr17:7847811C>T uc002gjq.2 + 13 2508 c.1589C>T c.(1588-1590)GCG>GTG p.A530V CNTROB_uc002gjp.2_Missense_Mutation_p.A530V|CNTROB_uc002gjr.2_Missense_Mutation_p.A432V|CNTROB_uc010vum.1_3'UTR NM_053051 NP_444279 Q8N137 CNTRB_HUMAN centrobin, centrosomal BRCA2 interacting protein 530 Potential.|Required for centrosome localization. centriole replication|centrosome separation|cytokinesis centriole protein domain specific binding breast(1)|central_nervous_system(1) 2 Prostate(122;0.173) CGGGAGCAAGCGCGAGTGTGC 0.567 NA 5 30 0 0 0 0 ACCN1 40 broad.mit.edu 37 17 32483155 32483155 + Missense_Mutation SNP C C T TCGA-CR-7367-01A-11D-2012-08 TCGA-CR-7367-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b82e34db-7b0e-4bbd-bc42-ba063ac42409 b93dc36c-99c1-4b6d-88c1-97d65bad89d2 g.chr17:32483155C>T uc002hhu.2 - 1 671 c.397G>A c.(397-399)GTG>ATG p.V133M NM_001094 NP_001085 Q16515 ACCN1_HUMAN amiloride-sensitive cation channel 1, neuronal 133 Extracellular (By similarity). central nervous system development|peripheral nervous system development|synaptic transmission integral to plasma membrane ligand-gated sodium channel activity|protein binding ovary(2)|large_intestine(1)|central_nervous_system(1) 4 Breast(31;0.042)|Ovarian(249;0.202) UCEC - Uterine corpus endometrioid carcinoma (308;0.13)|BRCA - Breast invasive adenocarcinoma(366;0.215) Amiloride(DB00594) GCCTCCAGCACGGAGGGGTCA 0.612 NA 14 97 0 0 0 0 VAT1 10493 broad.mit.edu 37 17 41168533 41168533 + Missense_Mutation SNP T T C TCGA-CR-7367-01A-11D-2012-08 TCGA-CR-7367-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b82e34db-7b0e-4bbd-bc42-ba063ac42409 b93dc36c-99c1-4b6d-88c1-97d65bad89d2 g.chr17:41168533T>C uc002icm.1 - 5 1009 c.889A>G c.(889-891)AAC>GAC p.N297D VAT1_uc010cyw.1_Missense_Mutation_p.N163D|VAT1_uc010whk.1_Missense_Mutation_p.N229D NM_006373 NP_006364 Q99536 VAT1_HUMAN vesicle amine transport protein 1 297 cytoplasm|integral to membrane oxidoreductase activity|zinc ion binding 0 Breast(137;0.000717) BRCA - Breast invasive adenocarcinoma(366;0.156) GCCATCAGGTTCCGTTTGGGG 0.612 NA 3 25 0 0 0 0 NSF 4905 broad.mit.edu 37 17 44770322 44770322 + Silent SNP C C T TCGA-CR-7367-01A-11D-2012-08 TCGA-CR-7367-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b82e34db-7b0e-4bbd-bc42-ba063ac42409 b93dc36c-99c1-4b6d-88c1-97d65bad89d2 g.chr17:44770322C>T uc002iku.2 + 10 1103 c.999C>T c.(997-999)ATC>ATT p.I333I NSF_uc010wke.1_Silent_p.I239I|NSF_uc010wkf.1_Silent_p.I239I|NSF_uc010wkg.1_Silent_p.I328I NM_006178 NP_006169 P46459 NSF_HUMAN vesicle-fusing ATPase 333 protein transport|synaptic transmission cytosol ATP binding|metal ion binding ovary(1) 1 Melanoma(429;0.203) BRCA - Breast invasive adenocarcinoma(9;0.0257) BRCA - Breast invasive adenocarcinoma(366;0.241) TTGATGCCATCTGCAAGCAGA 0.418 NA 4 28 0 0 0 0 COL1A1 1277 broad.mit.edu 37 17 48263006 48263006 + Missense_Mutation SNP G G A TCGA-CR-7367-01A-11D-2012-08 TCGA-CR-7367-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b82e34db-7b0e-4bbd-bc42-ba063ac42409 b93dc36c-99c1-4b6d-88c1-97d65bad89d2 g.chr17:48263006G>A uc002iqm.2 - 51 4378 c.4252C>T c.(4252-4254)CAC>TAC p.H1418Y NM_000088 NP_000079 P02452 CO1A1_HUMAN alpha 1 type I collagen preproprotein 1418 Fibrillar collagen NC1. axon guidance|blood vessel development|collagen biosynthetic process|collagen fibril organization|embryonic skeletal system development|leukocyte migration|platelet activation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|protein localization to nucleus|sensory perception of sound|skin morphogenesis|tooth mineralization|visual perception collagen type I|extracellular space|plasma membrane identical protein binding|platelet-derived growth factor binding COL1A1/PDGFB(372) soft_tissue(372)|central_nervous_system(7)|skin(1)|breast(1)|pancreas(1) 382 Collagenase(DB00048)|Palifermin(DB00039) GCTCCGGTGTGACTCTGGGGT 0.617 NA T PDGFB|USP6 dermatofibrosarcoma protuberans|aneurysmal bone cyst Osteogenesis imperfecta 8 40 0 0 0 0 RPS6KB1 6198 broad.mit.edu 37 17 58009058 58009058 + Silent SNP G G A TCGA-CR-7367-01A-11D-2012-08 TCGA-CR-7367-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b82e34db-7b0e-4bbd-bc42-ba063ac42409 b93dc36c-99c1-4b6d-88c1-97d65bad89d2 g.chr17:58009058G>A uc002ixy.2 + 7 766 c.663G>A c.(661-663)CCG>CCA p.P221P RPS6KB1_uc010ddj.1_Silent_p.P221P|RPS6KB1_uc010wom.1_Silent_p.P168P|RPS6KB1_uc010won.1_Silent_p.P198P|RPS6KB1_uc010woo.1_Silent_p.P156P NM_003161 NP_003152 P23443 KS6B1_HUMAN ribosomal protein S6 kinase, 70kDa, polypeptide 221 Protein kinase. apoptosis|G1/S transition of mitotic cell cycle|insulin receptor signaling pathway|negative regulation of apoptosis|phosphatidylinositol-mediated signaling|positive regulation of mitotic cell cycle|positive regulation of translational initiation|TOR signaling cascade cell junction|cytoplasm|cytosol|mitochondrial outer membrane|nucleus|nucleus|synapse|synaptosome ATP binding|protein binding|protein kinase activity large_intestine(1) 1 all_cancers(5;1.63e-13)|Breast(5;2.91e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922) Epithelial(12;3.57e-12)|all cancers(12;6.41e-11) ACCTGAAGCCGGAGAATATCA 0.388 NA 7 38 0 0 0 0 SMURF2 64750 broad.mit.edu 37 17 62589665 62589665 + Missense_Mutation SNP G G A TCGA-CR-7367-01A-11D-2012-08 TCGA-CR-7367-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b82e34db-7b0e-4bbd-bc42-ba063ac42409 b93dc36c-99c1-4b6d-88c1-97d65bad89d2 g.chr17:62589665G>A uc002jep.1 - 4 615 c.227C>T c.(226-228)ACG>ATG p.T76M SMURF2_uc002jeq.1_Translation_Start_Site|SMURF2_uc002jer.1_Translation_Start_Site NM_022739 NP_073576 Q9HAU4 SMUF2_HUMAN SMAD specific E3 ubiquitin protein ligase 2 76 C2. BMP signaling pathway|negative regulation of transcription, DNA-dependent|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of transforming growth factor beta receptor signaling pathway|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent SMAD protein catabolic process cytosol|membrane raft|nucleus|plasma membrane|ubiquitin ligase complex identical protein binding|SMAD binding|ubiquitin-protein ligase activity skin(3)|lung(1) 4 Breast(5;1.32e-14) BRCA - Breast invasive adenocarcinoma(8;9.88e-12) TACACTGATCGTAACTGAATC 0.393 NA 6 64 0 0 0 0 ARSG 22901 broad.mit.edu 37 17 66381312 66381312 + Missense_Mutation SNP A A T TCGA-CR-7367-01A-11D-2012-08 TCGA-CR-7367-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b82e34db-7b0e-4bbd-bc42-ba063ac42409 b93dc36c-99c1-4b6d-88c1-97d65bad89d2 g.chr17:66381312A>T uc002jhc.2 + 9 1886 c.1090A>T c.(1090-1092)AGC>TGC p.S364C ARSG_uc002jhb.1_Missense_Mutation_p.S200C NM_014960 NP_055775 Q96EG1 ARSG_HUMAN Arylsulfatase G precursor 364 sulfur compound metabolic process endoplasmic reticulum|extracellular space|lysosome arylsulfatase activity|metal ion binding ovary(1) 1 BRCA - Breast invasive adenocarcinoma(8;5.34e-07)|LUSC - Lung squamous cell carcinoma(166;0.24) TGCCTTGTTAAGGTATGAGAC 0.418 NA 24 49 0 0 0 0 SYT4 6860 broad.mit.edu 37 18 40854093 40854093 + Missense_Mutation SNP G G T TCGA-CR-7367-01A-11D-2012-08 TCGA-CR-7367-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b82e34db-7b0e-4bbd-bc42-ba063ac42409 b93dc36c-99c1-4b6d-88c1-97d65bad89d2 g.chr18:40854093G>T uc002law.2 - 2 670 c.301C>A c.(301-303)CTC>ATC p.L101I SYT4_uc010dng.2_Intron|SYT4_uc010xcm.1_Missense_Mutation_p.L83I|SYT4_uc010dnh.2_Intron NM_020783 NP_065834 Q9H2B2 SYT4_HUMAN synaptotagmin IV 101 Cytoplasmic (Potential). cell junction|integral to membrane|synaptic vesicle membrane transporter activity skin(5) 5 TTGCCATTGAGATCTCTCTTT 0.398 NA 12 90 1.36e-13 2.38e-13 1 0 ST8SIA5 29906 broad.mit.edu 37 18 44260231 44260231 + Missense_Mutation SNP C C T TCGA-CR-7367-01A-11D-2012-08 TCGA-CR-7367-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b82e34db-7b0e-4bbd-bc42-ba063ac42409 b93dc36c-99c1-4b6d-88c1-97d65bad89d2 g.chr18:44260231C>T uc002lcj.1 - 7 1473 c.905G>A c.(904-906)GGC>GAC p.G302D ST8SIA5_uc002lci.1_Missense_Mutation_p.G149D|ST8SIA5_uc010xcy.1_Missense_Mutation_p.G338D|ST8SIA5_uc010xcz.1_Missense_Mutation_p.G271D NM_013305 NP_037437 O15466 SIA8E_HUMAN ST8 alpha-N-acetyl-neuraminide 302 Lumenal (Potential). glycosphingolipid biosynthetic process|protein glycosylation integral to Golgi membrane upper_aerodigestive_tract(1)|ovary(1)|pancreas(1) 3 CAGAATGAGGCCGGTGCTGAT 0.622 NA 15 75 0 0 0 0 CDH7 1005 broad.mit.edu 37 18 63511243 63511243 + Missense_Mutation SNP G G A TCGA-CR-7367-01A-11D-2012-08 TCGA-CR-7367-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b82e34db-7b0e-4bbd-bc42-ba063ac42409 b93dc36c-99c1-4b6d-88c1-97d65bad89d2 g.chr18:63511243G>A uc002ljz.2 + 7 1502 c.1177G>A c.(1177-1179)GGG>AGG p.G393R CDH7_uc002lka.2_Missense_Mutation_p.G393R|CDH7_uc002lkb.2_Missense_Mutation_p.G393R NM_033646 NP_387450 Q9ULB5 CADH7_HUMAN cadherin 7, type 2 preproprotein 393 Extracellular (Potential).|Cadherin 4. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(2)|pancreas(1)|skin(1) 4 Esophageal squamous(42;0.129) TACCCAGGTTGGGAATATCAT 0.448 NA 41 75 0 0 0 0 TSHZ1 10194 broad.mit.edu 37 18 72999914 72999914 + Missense_Mutation SNP T T A TCGA-CR-7367-01A-11D-2012-08 TCGA-CR-7367-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b82e34db-7b0e-4bbd-bc42-ba063ac42409 b93dc36c-99c1-4b6d-88c1-97d65bad89d2 g.chr18:72999914T>A uc002lly.2 + 2 2980 c.2417T>A c.(2416-2418)CTG>CAG p.L806Q NM_005786 NP_005777 Q6ZSZ6 TSH1_HUMAN teashirt family zinc finger 1 851 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding 0 Esophageal squamous(42;0.129)|Prostate(75;0.142)|Melanoma(33;0.211) Colorectal(1;0.000501)|READ - Rectum adenocarcinoma(2;0.00226)|BRCA - Breast invasive adenocarcinoma(31;0.246) ACAGGCCGCCTGACGCCCAAG 0.602 NA 9 79 0 0 0 0 SALL3 27164 broad.mit.edu 37 18 76757094 76757094 + Missense_Mutation SNP G G A TCGA-CR-7367-01A-11D-2012-08 TCGA-CR-7367-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b82e34db-7b0e-4bbd-bc42-ba063ac42409 b93dc36c-99c1-4b6d-88c1-97d65bad89d2 g.chr18:76757094G>A uc002lmt.2 + 3 3675 c.3675G>A c.(3673-3675)ATG>ATA p.M1225I SALL3_uc010dra.2_Missense_Mutation_p.M760I NM_171999 NP_741996 Q9BXA9 SALL3_HUMAN sal-like 3 1225 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(2)|large_intestine(1)|central_nervous_system(1) 4 Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167) OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256) GGCTCGCCATGAAGAACAACG 0.602 NA 35 166 0 0 0 0 C3 718 broad.mit.edu 37 19 6714452 6714452 + Silent SNP C C T TCGA-CR-7367-01A-11D-2012-08 TCGA-CR-7367-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b82e34db-7b0e-4bbd-bc42-ba063ac42409 b93dc36c-99c1-4b6d-88c1-97d65bad89d2 g.chr19:6714452C>T uc002mfm.2 - 5 572 c.510G>A c.(508-510)CCG>CCA p.P170P NM_000064 NP_000055 P01024 CO3_HUMAN complement component 3 precursor 170 complement activation, alternative pathway|complement activation, classical pathway|G-protein coupled receptor protein signaling pathway|inflammatory response|positive regulation vascular endothelial growth factor production extracellular space endopeptidase inhibitor activity|receptor binding skin(3)|ovary(1)|pancreas(1) 5 GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661) GGATGCCTTCCGGGTTCTGTG 0.562 NA 5 43 0 0 0 0 PDE4A 5141 broad.mit.edu 37 19 10570295 10570295 + Missense_Mutation SNP C C T TCGA-CR-7367-01A-11D-2012-08 TCGA-CR-7367-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b82e34db-7b0e-4bbd-bc42-ba063ac42409 b93dc36c-99c1-4b6d-88c1-97d65bad89d2 g.chr19:10570295C>T uc002moj.2 + 10 1333 c.1225C>T c.(1225-1227)CGC>TGC p.R409C PDE4A_uc002mok.2_Missense_Mutation_p.R383C|PDE4A_uc002mol.2_Missense_Mutation_p.R348C|PDE4A_uc002mom.2_Missense_Mutation_p.R170C|PDE4A_uc002mon.2_Intron|PDE4A_uc002moo.2_Missense_Mutation_p.R75C NM_001111307 NP_001104777 P27815 PDE4A_HUMAN phosphodiesterase 4A isoform 1 409 Catalytic. signal transduction cytosol|membrane fraction|perinuclear region of cytoplasm|ruffle membrane|soluble fraction 3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|protein binding ovary(1)|breast(1)|central_nervous_system(1) 3 OV - Ovarian serous cystadenocarcinoma(20;5.8e-10)|Epithelial(33;7.58e-07)|all cancers(31;3.91e-06) Cilostazol(DB01166)|Dipyridamole(DB00975)|Dyphylline(DB00651)|Enprofylline(DB00824)|Iloprost(DB01088)|Milrinone(DB00235)|Pentoxifylline(DB00806)|Phentolamine(DB00692)|Tadalafil(DB00820)|Theophylline(DB00277) GAAGAAATTCCGCATCCCTGT 0.637 NA 6 39 0 0 0 0 SMARCA4 6597 broad.mit.edu 37 19 11101902 11101902 + Missense_Mutation SNP G G A TCGA-CR-7367-01A-11D-2012-08 TCGA-CR-7367-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b82e34db-7b0e-4bbd-bc42-ba063ac42409 b93dc36c-99c1-4b6d-88c1-97d65bad89d2 g.chr19:11101902G>A uc002mqf.3 + 8 1606 c.1322G>A c.(1321-1323)CGC>CAC p.R441H SMARCA4_uc010dxp.2_Missense_Mutation_p.R441H|SMARCA4_uc010dxo.2_Missense_Mutation_p.R441H|SMARCA4_uc002mqg.1_Missense_Mutation_p.R441H|SMARCA4_uc010dxq.2_Missense_Mutation_p.R441H|SMARCA4_uc010dxr.2_Missense_Mutation_p.R441H|SMARCA4_uc002mqj.3_Missense_Mutation_p.R441H|SMARCA4_uc010dxs.2_Missense_Mutation_p.R441H|SMARCA4_uc002mqe.2_Missense_Mutation_p.R441H NM_003072 NP_003063 P51532 SMCA4_HUMAN SWI/SNF-related matrix-associated 441 chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity p.?(1) lung(29)|ovary(8)|pancreas(7)|large_intestine(5)|central_nervous_system(5)|skin(3)|prostate(3)|breast(2)|adrenal_gland(1)|stomach(1)|liver(1)|autonomic_ganglia(1)|kidney(1) 67 all_lung(6;0.0512)|Lung NSC(9;0.0568) GCCTACAAGCGCAGCAAGCGC 0.632 NA F|N|Mis NSCLC Rhabdoid_Predisposition_syndrome 4 38 0 0 0 0 ZNF625 90589 broad.mit.edu 37 19 12256889 12256889 + Silent SNP C C T TCGA-CR-7367-01A-11D-2012-08 TCGA-CR-7367-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b82e34db-7b0e-4bbd-bc42-ba063ac42409 b93dc36c-99c1-4b6d-88c1-97d65bad89d2 g.chr19:12256889C>T uc002mth.2 - 4 494 c.144G>A c.(142-144)AGG>AGA p.R48R ZNF20_uc002mtg.1_Intron|ZNF625_uc010dyn.1_RNA|ZNF625_uc010dyo.1_Silent_p.R82R NM_145233 NP_660276 Q96I27 ZN625_HUMAN zinc finger protein 625 48 C2H2-type 1; degenerate. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 CTCTGTGGTGCCTATTAAGGG 0.443 NA 17 56 0 0 0 0 ZNF99 7652 broad.mit.edu 37 19 22940808 22940808 + Missense_Mutation SNP T T C TCGA-CR-7367-01A-11D-2012-08 TCGA-CR-7367-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b82e34db-7b0e-4bbd-bc42-ba063ac42409 b93dc36c-99c1-4b6d-88c1-97d65bad89d2 g.chr19:22940808T>C uc010xrh.1 - 5 1630 c.1630A>G c.(1630-1632)ACC>GCC p.T544A NM_001080409 NP_001073878 zinc finger protein 99 ovary(1)|skin(1) 2 Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102) TTTCTAAGGGTTGAGGACTGG 0.373 NA 12 61 0 0 0 0 ACTN4 81 broad.mit.edu 37 19 39191741 39191741 + Missense_Mutation SNP T T A TCGA-CR-7367-01A-11D-2012-08 TCGA-CR-7367-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b82e34db-7b0e-4bbd-bc42-ba063ac42409 b93dc36c-99c1-4b6d-88c1-97d65bad89d2 g.chr19:39191741T>A uc002oja.1 + 3 436 c.377T>A c.(376-378)CTG>CAG p.L126Q ACTN4_uc010egc.1_Missense_Mutation_p.L126Q NM_004924 NP_004915 O43707 ACTN4_HUMAN actinin, alpha 4 126 Actin-binding.|CH 1. platelet activation|platelet degranulation|positive regulation of cellular component movement|positive regulation of sodium:hydrogen antiporter activity|protein transport|regulation of apoptosis extracellular region|nucleolus|perinuclear region of cytoplasm|platelet alpha granule lumen|protein complex|pseudopodium|ribonucleoprotein complex actin filament binding|calcium ion binding|integrin binding|nucleoside binding|protein homodimerization activity 0 all_cancers(60;1.57e-05)|Ovarian(47;0.103) Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272) GGCGTCAAGCTGGTCTCCATC 0.557 NA 21 51 0 0 0 0 CEACAM3 1084 broad.mit.edu 37 19 42314017 42314017 + Missense_Mutation SNP G G A TCGA-CR-7367-01A-11D-2012-08 TCGA-CR-7367-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b82e34db-7b0e-4bbd-bc42-ba063ac42409 b93dc36c-99c1-4b6d-88c1-97d65bad89d2 g.chr19:42314017G>A uc002orn.1 + 4 633 c.557G>A c.(556-558)CGT>CAT p.R186H CEACAM3_uc010eia.1_Intron|CEACAM3_uc002oro.1_RNA NM_001815 NP_001806 P40198 CEAM3_HUMAN carcinoembryonic antigen-related cell adhesion 186 Cytoplasmic (Potential). integral to membrane skin(1) 1 AGCATCCAGCGTGACCTCAAG 0.592 NA 36 295 0 0 0 0 IRF2BP1 26145 broad.mit.edu 37 19 46388533 46388533 + Missense_Mutation SNP A A T TCGA-CR-7367-01A-11D-2012-08 TCGA-CR-7367-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b82e34db-7b0e-4bbd-bc42-ba063ac42409 b93dc36c-99c1-4b6d-88c1-97d65bad89d2 g.chr19:46388533A>T uc002pds.1 - 1 844 c.500T>A c.(499-501)CTG>CAG p.L167Q NM_015649 NP_056464 Q8IU81 I2BP1_HUMAN interferon regulatory factor 2 binding protein 167 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus 0 all_neural(266;0.113)|Ovarian(192;0.127) OV - Ovarian serous cystadenocarcinoma(262;0.00442)|GBM - Glioblastoma multiforme(486;0.0402)|Epithelial(262;0.231) TGCAGCTGCCAGCAGCCCAGG 0.682 NA 9 61 0 0 0 0 TSKS 60385 broad.mit.edu 37 19 50250010 50250010 + Nonsense_Mutation SNP G G A TCGA-CR-7367-01A-11D-2012-08 TCGA-CR-7367-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b82e34db-7b0e-4bbd-bc42-ba063ac42409 b93dc36c-99c1-4b6d-88c1-97d65bad89d2 g.chr19:50250010G>A uc002ppm.2 - 6 720 c.709C>T c.(709-711)CGA>TGA p.R237* NM_021733 NP_068379 Q9UJT2 TSKS_HUMAN testis-specific kinase substrate 237 protein binding large_intestine(1)|skin(1) 2 all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728) OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(134;0.0145) tcctgccgtcgcggcgtctca 0.284 NA 6 34 0 0 0 0 MYADM 91663 broad.mit.edu 37 19 54377153 54377153 + Missense_Mutation SNP T T C TCGA-CR-7367-01A-11D-2012-08 TCGA-CR-7367-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b82e34db-7b0e-4bbd-bc42-ba063ac42409 b93dc36c-99c1-4b6d-88c1-97d65bad89d2 g.chr19:54377153T>C uc002qcl.2 + 3 518 c.370T>C c.(370-372)TAT>CAT p.Y124H MYADM_uc002qcm.2_Missense_Mutation_p.Y124H|MYADM_uc002qcn.2_Missense_Mutation_p.Y124H|MYADM_uc002qco.2_Missense_Mutation_p.Y124H|MYADM_uc002qcp.2_Missense_Mutation_p.Y124H NM_001020820 NP_001018656 Q96S97 MYADM_HUMAN myeloid-associated differentiation marker 124 MARVEL 1. integral to membrane ovary(1) 1 Ovarian(34;0.19) GBM - Glioblastoma multiforme(134;0.0488) CCCCACCACCTATGTCCAGTT 0.647 NA 20 129 0 0 0 0 NLRP2 55655 broad.mit.edu 37 19 55481573 55481573 + Missense_Mutation SNP G G C TCGA-CR-7367-01A-11D-2012-08 TCGA-CR-7367-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b82e34db-7b0e-4bbd-bc42-ba063ac42409 b93dc36c-99c1-4b6d-88c1-97d65bad89d2 g.chr19:55481573G>C uc002qij.2 + 2 276 c.190G>C c.(190-192)GAC>CAC p.D64H NLRP2_uc010yfp.1_Intron|NLRP2_uc010esn.2_Missense_Mutation_p.D64H|NLRP2_uc010eso.2_Missense_Mutation_p.D64H|NLRP2_uc010esp.2_Missense_Mutation_p.D64H NM_017852 NP_060322 Q9NX02 NALP2_HUMAN NLR family, pyrin domain containing 2 64 DAPIN. apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion cytoplasm ATP binding|Pyrin domain binding ovary(1)|skin(1) 2 BRCA - Breast invasive adenocarcinoma(297;0.163) GBM - Glioblastoma multiforme(193;0.028) CACCCATTGTGACAGCTACTG 0.532 NA 15 74 0 0 0 0 NLRP2 55655 broad.mit.edu 37 19 55494909 55494909 + Nonsense_Mutation SNP G G T TCGA-CR-7367-01A-11D-2012-08 TCGA-CR-7367-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b82e34db-7b0e-4bbd-bc42-ba063ac42409 b93dc36c-99c1-4b6d-88c1-97d65bad89d2 g.chr19:55494909G>T uc002qij.2 + 6 1929 c.1843G>T c.(1843-1845)GAG>TAG p.E615* NLRP2_uc010yfp.1_Nonsense_Mutation_p.E592*|NLRP2_uc010esn.2_Nonsense_Mutation_p.E591*|NLRP2_uc010eso.2_Nonsense_Mutation_p.E612*|NLRP2_uc010esp.2_Nonsense_Mutation_p.E593* NM_017852 NP_060322 Q9NX02 NALP2_HUMAN NLR family, pyrin domain containing 2 615 apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion cytoplasm ATP binding|Pyrin domain binding ovary(1)|skin(1) 2 BRCA - Breast invasive adenocarcinoma(297;0.163) GBM - Glioblastoma multiforme(193;0.028) GTCTCAGGAGGAGGAGCTGGT 0.507 NA 12 30 5.51e-06 9.02e-06 1 0 SBK2 646643 broad.mit.edu 37 19 56047567 56047567 + Missense_Mutation SNP A A T TCGA-CR-7367-01A-11D-2012-08 TCGA-CR-7367-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b82e34db-7b0e-4bbd-bc42-ba063ac42409 b93dc36c-99c1-4b6d-88c1-97d65bad89d2 g.chr19:56047567A>T uc010ygc.1 - 1 95 c.95T>A c.(94-96)CTC>CAC p.L32H NM_001101401 NP_001094871 P0C263 SBK2_HUMAN SH3-binding domain kinase family, member 2 32 ATP binding|protein serine/threonine kinase activity 0 GCCCTGCTGGAGCTCCTCTAA 0.667 NA 4 38 0 0 0 0 ZNF581 51545 broad.mit.edu 37 19 56156365 56156365 + Missense_Mutation SNP G G A TCGA-CR-7367-01A-11D-2012-08 TCGA-CR-7367-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b82e34db-7b0e-4bbd-bc42-ba063ac42409 b93dc36c-99c1-4b6d-88c1-97d65bad89d2 g.chr19:56156365G>A uc002qln.2 + 2 1144 c.428G>A c.(427-429)CGG>CAG p.R143Q ZNF581_uc002qlq.2_Missense_Mutation_p.R143Q|CCDC106_uc002qlr.2_5'Flank NM_016535 NP_057619 Q9P0T4 ZN581_HUMAN zinc finger protein 581 143 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 Ovarian(87;0.133) BRCA - Breast invasive adenocarcinoma(297;0.18) GBM - Glioblastoma multiforme(193;0.105) GGTGGTGGGCGGCCCCACGGC 0.667 NA 21 104 0 0 0 0 NLRP4 147945 broad.mit.edu 37 19 56369225 56369225 + Missense_Mutation SNP C C T TCGA-CR-7367-01A-11D-2012-08 TCGA-CR-7367-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b82e34db-7b0e-4bbd-bc42-ba063ac42409 b93dc36c-99c1-4b6d-88c1-97d65bad89d2 g.chr19:56369225C>T uc002qmd.3 + 3 888 c.466C>T c.(466-468)CCA>TCA p.P156S NLRP4_uc002qmf.2_Missense_Mutation_p.P81S|NLRP4_uc010etf.2_5'UTR NM_134444 NP_604393 Q96MN2 NALP4_HUMAN NLR family, pyrin domain containing 4 156 NACHT.|ATP (Potential). ATP binding ovary(5)|skin(4)|lung(3)|upper_aerodigestive_tract(1)|kidney(1)|pancreas(1) 15 Colorectal(82;0.0002)|Ovarian(87;0.221) GBM - Glioblastoma multiforme(193;0.0606) CATTCAAGGACCACAAGGAAT 0.473 NA 18 151 0 0 0 0 MYT1L 23040 broad.mit.edu 37 2 1921066 1921066 + Missense_Mutation SNP C C A TCGA-CR-7367-01A-11D-2012-08 TCGA-CR-7367-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b82e34db-7b0e-4bbd-bc42-ba063ac42409 b93dc36c-99c1-4b6d-88c1-97d65bad89d2 g.chr2:1921066C>A uc002qxe.2 - 11 2356 c.1529G>T c.(1528-1530)GGG>GTG p.G510V MYT1L_uc002qxd.2_Missense_Mutation_p.G508V|MYT1L_uc010ewl.1_RNA NM_015025 NP_055840 Q9UL68 MYT1L_HUMAN myelin transcription factor 1-like 510 C2HC-type 2. cell differentiation|nervous system development nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(5)|central_nervous_system(1) 6 Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797) all_cancers(51;0.037)|all_epithelial(98;0.241) OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244) TCCATCACACCCGGGGGTTGG 0.507 NA 54 104 1.86e-20 3.4e-20 1 0 APOB 338 broad.mit.edu 37 2 21239357 21239357 + Missense_Mutation SNP T T C TCGA-CR-7367-01A-11D-2012-08 TCGA-CR-7367-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b82e34db-7b0e-4bbd-bc42-ba063ac42409 b93dc36c-99c1-4b6d-88c1-97d65bad89d2 g.chr2:21239357T>C uc002red.2 - 21 3414 c.3286A>G c.(3286-3288)ATT>GTT p.I1096V NM_000384 NP_000375 P04114 APOB_HUMAN apolipoprotein B precursor 1096 cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity ovary(11)|skin(9)|central_nervous_system(3)|large_intestine(2)|upper_aerodigestive_tract(1)|pancreas(1) 27 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) Atorvastatin(DB01076) TTGTTCTGAATGTCCAGGGTG 0.478 NA 6 46 0 0 0 0 ATAD2B 54454 broad.mit.edu 37 2 24011485 24011485 + Missense_Mutation SNP C C A TCGA-CR-7367-01A-11D-2012-08 TCGA-CR-7367-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b82e34db-7b0e-4bbd-bc42-ba063ac42409 b93dc36c-99c1-4b6d-88c1-97d65bad89d2 g.chr2:24011485C>A uc002rek.3 - 20 2967 c.2673G>T c.(2671-2673)GAG>GAT p.E891D ATAD2B_uc010yki.1_RNA|ATAD2B_uc002rei.3_Missense_Mutation_p.E136D|ATAD2B_uc002rej.3_Missense_Mutation_p.E59D NM_017552 NP_060022 Q9ULI0 ATD2B_HUMAN ATPase family, AAA domain containing 2B 891 ATP binding|nucleoside-triphosphatase activity central_nervous_system(1) 1 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) TATACAAGACCTCTTCATACT 0.313 NA 13 22 0.00136819 0.00211547 1 0 DQX1 165545 broad.mit.edu 37 2 74745638 74745638 + Missense_Mutation SNP C C T TCGA-CR-7367-01A-11D-2012-08 TCGA-CR-7367-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b82e34db-7b0e-4bbd-bc42-ba063ac42409 b93dc36c-99c1-4b6d-88c1-97d65bad89d2 g.chr2:74745638C>T uc010yrw.1 - 12 2254 c.2089G>A c.(2089-2091)GAT>AAT p.D697N DQX1_uc002smc.2_Missense_Mutation_p.D258N NM_133637 NP_598376 Q8TE96 DQX1_HUMAN DEAQ box polypeptide 1 (RNA-dependent ATPase) 697 nucleus ATP binding|helicase activity|nucleic acid binding ovary(2) 2 GCTGTAGAATCTGCCATTCCT 0.532 NA 9 51 0 0 0 0 GYPC 2995 broad.mit.edu 37 2 127451474 127451474 + Silent SNP C C A TCGA-CR-7367-01A-11D-2012-08 TCGA-CR-7367-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b82e34db-7b0e-4bbd-bc42-ba063ac42409 b93dc36c-99c1-4b6d-88c1-97d65bad89d2 g.chr2:127451474C>A uc002tnq.2 + 3 297 c.141C>A c.(139-141)GGC>GGA p.G47G GYPC_uc002tnr.2_Silent_p.G28G|GYPC_uc010flv.2_RNA NM_002101 NP_002092 P04921 GLPC_HUMAN glycophorin C isoform 1 47 Extracellular. cortical cytoskeleton|integral to plasma membrane protein binding central_nervous_system(1) 1 Colorectal(110;0.0533) BRCA - Breast invasive adenocarcinoma(221;0.075) GGCCGGATGGCAGAATGGAGA 0.562 NA 9 84 0.000274275 0.000428601 1 0 FMNL2 114793 broad.mit.edu 37 2 153504404 153504404 + Silent SNP C C T TCGA-CR-7367-01A-11D-2012-08 TCGA-CR-7367-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b82e34db-7b0e-4bbd-bc42-ba063ac42409 b93dc36c-99c1-4b6d-88c1-97d65bad89d2 g.chr2:153504404C>T uc002tye.2 + 26 3631 c.3264C>T c.(3262-3264)GCC>GCT p.A1088A FMNL2_uc010fob.2_3'UTR|FMNL2_uc002tyf.2_3'UTR NM_052905 NP_443137 Q96PY5 FMNL2_HUMAN formin-like 2 Error:Variant_position_missing_in_Q96PY5_after_alignment actin cytoskeleton organization cytoplasm actin binding|Rho GTPase binding central_nervous_system(2)|ovary(1) 3 TTAATGGTGCCGAAATAACAA 0.478 NA 20 169 0 0 0 0 KLHL23 151230 broad.mit.edu 37 2 170592711 170592711 + Missense_Mutation SNP G G T TCGA-CR-7367-01A-11D-2012-08 TCGA-CR-7367-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b82e34db-7b0e-4bbd-bc42-ba063ac42409 b93dc36c-99c1-4b6d-88c1-97d65bad89d2 g.chr2:170592711G>T uc002ufh.1 + 4 1525 c.1187G>T c.(1186-1188)TGG>TTG p.W396L KLHL23_uc002ufi.1_Missense_Mutation_p.W396L NM_144711 NP_653312 Q8NBE8 KLH23_HUMAN kelch-like 23 396 Kelch 3. 0 AAAGAGAAATGGATTCCTATT 0.408 NA 12 104 7.04e-09 1.19e-08 1 0 DNAJC10 54431 broad.mit.edu 37 2 183627484 183627484 + Silent SNP A A C TCGA-CR-7367-01A-11D-2012-08 TCGA-CR-7367-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b82e34db-7b0e-4bbd-bc42-ba063ac42409 b93dc36c-99c1-4b6d-88c1-97d65bad89d2 g.chr2:183627484A>C uc002uow.1 + 22 2636 c.2221A>C c.(2221-2223)AGG>CGG p.R741R DNAJC10_uc002uox.1_RNA|DNAJC10_uc002uoy.1_RNA|DNAJC10_uc002uoz.1_Silent_p.R695R|DNAJC10_uc010fro.1_RNA NM_018981 NP_061854 Q8IXB1 DJC10_HUMAN DnaJ (Hsp40) homolog, subfamily C, member 10 741 Thioredoxin 4. apoptosis in response to endoplasmic reticulum stress|cell redox homeostasis|ER-associated protein catabolic process|glycerol ether metabolic process|negative regulation of protein phosphorylation|protein folding|response to endoplasmic reticulum stress endoplasmic reticulum chaperone complex|endoplasmic reticulum lumen|extracellular region ATPase activator activity|ATPase binding|chaperone binding|electron carrier activity|heat shock protein binding|misfolded protein binding|protein disulfide oxidoreductase activity|unfolded protein binding ovary(1)|large_intestine(1)|breast(1)|skin(1) 4 OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209) AGCTGGGATCAGGGCCTATCC 0.408 NA 4 49 0 0 0 0 ALS2 57679 broad.mit.edu 37 2 202593826 202593826 + Silent SNP C C T TCGA-CR-7367-01A-11D-2012-08 TCGA-CR-7367-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b82e34db-7b0e-4bbd-bc42-ba063ac42409 b93dc36c-99c1-4b6d-88c1-97d65bad89d2 g.chr2:202593826C>T uc002uyo.2 - 14 3017 c.2661G>A c.(2659-2661)AAG>AAA p.K887K ALS2_uc002uyp.3_Silent_p.K887K|ALS2_uc010ftl.2_RNA NM_020919 NP_065970 Q96Q42 ALS2_HUMAN alsin isoform 1 887 cell death|endosome organization|positive regulation of Rac GTPase activity|regulation of endosome size centrosome|cytosol|early endosome|growth cone|lamellipodium|protein complex|ruffle protein homodimerization activity|protein serine/threonine kinase activator activity|Rab GTPase binding|Rab guanyl-nucleotide exchange factor activity|Rac guanyl-nucleotide exchange factor activity|Ran guanyl-nucleotide exchange factor activity skin(5)|lung(1)|breast(1) 7 ATTCTGCTTCCTTCCTTTTCC 0.453 NA 129 78 0 0 0 0 CPS1 1373 broad.mit.edu 37 2 211502448 211502448 + Missense_Mutation SNP C C G TCGA-CR-7367-01A-11D-2012-08 TCGA-CR-7367-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b82e34db-7b0e-4bbd-bc42-ba063ac42409 b93dc36c-99c1-4b6d-88c1-97d65bad89d2 g.chr2:211502448C>G uc002vee.3 + 22 2842 c.2710C>G c.(2710-2712)CTG>GTG p.L904V CPS1_uc010fur.2_Missense_Mutation_p.L910V|CPS1_uc010fus.2_Missense_Mutation_p.L453V NM_001875 NP_001866 P31327 CPSM_HUMAN carbamoyl-phosphate synthetase 1 isoform b 904 carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle mitochondrial nucleoid ATP binding|carbamoyl-phosphate synthase (ammonia) activity ovary(8)|central_nervous_system(3)|breast(1)|skin(1) 13 Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843) AGAAGAAACCCTGAAAAGGGC 0.398 NA 7 39 0 0 0 0 CHRND 1144 broad.mit.edu 37 2 233398936 233398936 + Missense_Mutation SNP C C T rs140455307 TCGA-CR-7367-01A-11D-2012-08 TCGA-CR-7367-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b82e34db-7b0e-4bbd-bc42-ba063ac42409 b93dc36c-99c1-4b6d-88c1-97d65bad89d2 g.chr2:233398936C>T uc002vsw.2 + 11 1259 c.1255C>T c.(1255-1257)CGG>TGG p.R419W CHRND_uc010zmg.1_Missense_Mutation_p.R404W|CHRND_uc010fyc.2_Missense_Mutation_p.R292W|CHRND_uc010zmh.1_Missense_Mutation_p.R225W NM_000751 NP_000742 Q07001 ACHD_HUMAN nicotinic acetylcholine receptor delta 419 Cytoplasmic (Potential). muscle contraction|musculoskeletal movement|neuromuscular process|skeletal muscle tissue growth|synaptic transmission cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane nicotinic acetylcholine-activated cation-selective channel activity|receptor activity ovary(1)|breast(1)|skin(1) 3 all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132) Epithelial(121;1.89e-16)|BRCA - Breast invasive adenocarcinoma(100;0.00078)|Lung(119;0.00579)|LUSC - Lung squamous cell carcinoma(224;0.00754) GTCTGTAGGCCGGCCCCCAGC 0.607 NA 12 71 0 0 0 0 GIGYF2 26058 broad.mit.edu 37 2 233680442 233680442 + Missense_Mutation SNP G G T TCGA-CR-7367-01A-11D-2012-08 TCGA-CR-7367-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b82e34db-7b0e-4bbd-bc42-ba063ac42409 b93dc36c-99c1-4b6d-88c1-97d65bad89d2 g.chr2:233680442G>T uc002vti.3 + 21 2540 c.2203G>T c.(2203-2205)GCA>TCA p.A735S GIGYF2_uc010zmj.1_Missense_Mutation_p.A735S|GIGYF2_uc002vtg.2_Missense_Mutation_p.A729S|GIGYF2_uc002vtj.3_Missense_Mutation_p.A756S|GIGYF2_uc002vtk.3_Missense_Mutation_p.A735S|GIGYF2_uc002vth.3_Missense_Mutation_p.A729S|GIGYF2_uc010zmk.1_RNA|GIGYF2_uc010zml.1_Missense_Mutation_p.A566S|GIGYF2_uc002vtq.3_Missense_Mutation_p.A68S NM_015575 NP_056390 Q6Y7W6 PERQ2_HUMAN GRB10 interacting GYF protein 2 isoform b 735 Gln-rich. cell death protein binding ovary(4)|central_nervous_system(3) 7 Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839) Epithelial(121;7.37e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000472)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(119;0.0118)|GBM - Glioblastoma multiforme(43;0.0145) GGCCAAAGCTGCAAAGGTCTG 0.478 NA 3 29 0.004672 0.0070744 1 0 HDAC4 9759 broad.mit.edu 37 2 240085518 240085518 + Missense_Mutation SNP C C T TCGA-CR-7367-01A-11D-2012-08 TCGA-CR-7367-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b82e34db-7b0e-4bbd-bc42-ba063ac42409 b93dc36c-99c1-4b6d-88c1-97d65bad89d2 g.chr2:240085518C>T uc002vyk.3 - 6 1384 c.592G>A c.(592-594)GAC>AAC p.D198N HDAC4_uc010fyz.1_Missense_Mutation_p.D193N|HDAC4_uc010zoa.1_Missense_Mutation_p.D193N|HDAC4_uc010fza.2_Missense_Mutation_p.D198N|HDAC4_uc010fyy.2_Missense_Mutation_p.D150N|HDAC4_uc010znz.1_Missense_Mutation_p.D81N NM_006037 NP_006028 P56524 HDAC4_HUMAN histone deacetylase 4 198 Interaction with MEF2A. B cell differentiation|cardiac muscle hypertrophy in response to stress|chromatin remodeling|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of glycolysis|negative regulation of myotube differentiation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|nervous system development|peptidyl-lysine deacetylation|positive regulation of cell proliferation|positive regulation of protein sumoylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of protein binding|response to denervation involved in regulation of muscle adaptation|response to interleukin-1|transcription, DNA-dependent histone deacetylase complex|transcriptional repressor complex activating transcription factor binding|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|potassium ion binding|repressing transcription factor binding|zinc ion binding breast(3)|skin(2)|ovary(1) 6 all_epithelial(40;1.45e-17)|Breast(86;1.53e-05)|Renal(207;0.000355)|all_lung(227;0.0121)|Ovarian(221;0.0183)|Lung NSC(271;0.0413)|Melanoma(123;0.0749)|all_hematologic(139;0.159) Epithelial(121;6.38e-25)|OV - Ovarian serous cystadenocarcinoma(60;2.48e-12)|Kidney(56;6.04e-08)|KIRC - Kidney renal clear cell carcinoma(57;1.18e-06)|BRCA - Breast invasive adenocarcinoma(100;3.99e-05)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.04) TAGCGAGGGTCGCTGGAAATG 0.562 NA 22 78 0 0 0 0 SNRPB2 6629 broad.mit.edu 37 20 16721614 16721614 + Silent SNP G G A TCGA-CR-7367-01A-11D-2012-08 TCGA-CR-7367-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b82e34db-7b0e-4bbd-bc42-ba063ac42409 b93dc36c-99c1-4b6d-88c1-97d65bad89d2 g.chr20:16721614G>A uc002wph.1 + 7 858 c.642G>A c.(640-642)CCG>CCA p.P214P SNRPB2_uc002wpi.1_Silent_p.P214P NM_003092 NP_003083 P08579 RU2B_HUMAN small nuclear ribonucleoprotein polypeptide B'' 214 RRM 2. catalytic step 2 spliceosome|nucleoplasm|U2 snRNP nucleotide binding|protein binding|RNA binding large_intestine(1) 1 AGATCACACCGTCCCATGCTA 0.413 NA 8 63 0 0 0 0 CHD6 84181 broad.mit.edu 37 20 40162087 40162087 + Silent SNP A A G TCGA-CR-7367-01A-11D-2012-08 TCGA-CR-7367-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b82e34db-7b0e-4bbd-bc42-ba063ac42409 b93dc36c-99c1-4b6d-88c1-97d65bad89d2 g.chr20:40162087A>G uc002xka.1 - 3 334 c.156T>C c.(154-156)GCT>GCC p.A52A CHD6_uc002xkd.2_Silent_p.A30A|CHD6_uc002xkc.2_Silent_p.A87A NM_032221 NP_115597 Q8TD26 CHD6_HUMAN chromodomain helicase DNA binding protein 6 52 chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding ovary(6)|skin(5)|lung(2)|central_nervous_system(1) 14 Myeloproliferative disorder(115;0.00425) GACAGTGACTAGCAACATCTT 0.448 NA 53 91 0 0 0 0 BMP7 655 broad.mit.edu 37 20 55803477 55803477 + Missense_Mutation SNP A A G TCGA-CR-7367-01A-11D-2012-08 TCGA-CR-7367-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b82e34db-7b0e-4bbd-bc42-ba063ac42409 b93dc36c-99c1-4b6d-88c1-97d65bad89d2 g.chr20:55803477A>G uc010gip.1 - 2 948 c.419T>C c.(418-420)GTG>GCG p.V140A BMP7_uc010giq.1_Missense_Mutation_p.V140A|BMP7_uc002xyc.2_Missense_Mutation_p.V140A NM_001719 NP_001710 P18075 BMP7_HUMAN bone morphogenetic protein 7 precursor 140 BMP signaling pathway|cartilage development|cellular response to hypoxia|epithelial to mesenchymal transition|growth|mesonephros development|negative regulation of glomerular mesangial cell proliferation|negative regulation of MAP kinase activity|negative regulation of mitosis|negative regulation of neuron differentiation|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|negative regulation of phosphorylation|negative regulation of striated muscle cell apoptosis|negative regulation of transcription, DNA-dependent|ossification|pathway-restricted SMAD protein phosphorylation|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|protein localization to nucleus|regulation of removal of superoxide radicals|SMAD protein signal transduction|steroid hormone mediated signaling pathway|ureteric bud development extracellular space cytokine activity|growth factor activity skin(1) 1 all_lung(29;0.0133)|Melanoma(10;0.242) BRCA - Breast invasive adenocarcinoma(4;2.49e-13)|Epithelial(14;1.74e-08)|all cancers(14;2.05e-07) GTCATGTTCCACTGGAAGAGG 0.512 NA 3 114 0 0 0 0 LAMA5 3911 broad.mit.edu 37 20 60888727 60888727 + Missense_Mutation SNP C C T TCGA-CR-7367-01A-11D-2012-08 TCGA-CR-7367-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b82e34db-7b0e-4bbd-bc42-ba063ac42409 b93dc36c-99c1-4b6d-88c1-97d65bad89d2 g.chr20:60888727C>T uc002ycq.2 - 63 8703 c.8636G>A c.(8635-8637)GGG>GAG p.G2879E NM_005560 NP_005551 O15230 LAMA5_HUMAN laminin alpha 5 precursor 2879 Laminin G-like 1. angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex integrin binding ovary(1)|pancreas(1)|skin(1) 3 Breast(26;1.57e-08) BRCA - Breast invasive adenocarcinoma(19;4.36e-06) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) GGGGTACCCCCCGACGTAGAA 0.677 NA 18 76 0 0 0 0 POTEH 23784 broad.mit.edu 37 22 16267041 16267042 + Missense_Mutation DNP GG GG AT TCGA-CR-7367-01A-11D-2012-08 TCGA-CR-7367-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b82e34db-7b0e-4bbd-bc42-ba063ac42409 b93dc36c-99c1-4b6d-88c1-97d65bad89d2 g.chr22:16267041_16267042GG>AT uc010gqp.2 - 9 1459_1460 c.1407_1408CC>AT c.(1405-1410)AACCTG>AAATTG p.N469K POTEH_uc002zlg.1_RNA|POTEH_uc002zlh.1_Missense_Mutation_p.N188K|POTEH_uc002zlj.1_Missense_Mutation_p.N304K NM_001136213 NP_001129685 Q6S545 POTEH_HUMAN ANKRD26-like family C, member 3 469 skin(1) 1 CCGTTAGTCAGGTTTTCTGGGA 0.401 NA 25 573 0 0 0 0 CELSR1 9620 broad.mit.edu 37 22 46859980 46859980 + Silent SNP G G A rs148297929 byFrequency TCGA-CR-7367-01A-11D-2012-08 TCGA-CR-7367-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b82e34db-7b0e-4bbd-bc42-ba063ac42409 b93dc36c-99c1-4b6d-88c1-97d65bad89d2 g.chr22:46859980G>A uc003bhw.1 - 2 3807 c.3807C>T c.(3805-3807)GGC>GGT p.G1269G NM_014246 NP_055061 Q9NYQ6 CELR1_HUMAN cadherin EGF LAG seven-pass G-type receptor 1 1269 Extracellular (Potential). 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) GGCCGCGGACGCCGCCAGGCA 0.632 NA 6 48 0 0 0 0 RAF1 5894 broad.mit.edu 37 3 12653459 12653459 + Missense_Mutation SNP C C T TCGA-CR-7367-01A-11D-2012-08 TCGA-CR-7367-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b82e34db-7b0e-4bbd-bc42-ba063ac42409 b93dc36c-99c1-4b6d-88c1-97d65bad89d2 g.chr3:12653459C>T uc003bxf.3 - 3 725 c.310G>A c.(310-312)GAA>AAA p.E104K RAF1_uc011aut.1_5'Flank|RAF1_uc011auu.1_Intron NM_002880 NP_002871 P04049 RAF1_HUMAN v-raf-1 murine leukemia viral oncogene homolog 104 RBD. activation of MAPKK activity|apoptosis|axon guidance|cell proliferation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|negative regulation of apoptosis|negative regulation of cell proliferation|negative regulation of protein complex assembly|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of peptidyl-serine phosphorylation|Ras protein signal transduction|synaptic transmission cytosol|mitochondrial outer membrane|plasma membrane ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|receptor signaling protein activity ESRP1/RAF1(4)|SRGAP3/RAF1(4) central_nervous_system(4)|prostate(4)|lung(2)|upper_aerodigestive_tract(1)|stomach(1)|liver(1)|ovary(1) 14 Sorafenib(DB00398) CCTTTGTGTTCGTGGAGAAGT 0.428 NA T SRGAP3 pilocytic astrocytoma Noonan_syndrome 49 87 0 0 0 0 C3orf75 54859 broad.mit.edu 37 3 47552662 47552662 + Missense_Mutation SNP G G T TCGA-CR-7367-01A-11D-2012-08 TCGA-CR-7367-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b82e34db-7b0e-4bbd-bc42-ba063ac42409 b93dc36c-99c1-4b6d-88c1-97d65bad89d2 g.chr3:47552662G>T uc003crk.2 - 2 228 c.109C>A c.(109-111)CAC>AAC p.H37N C3orf75_uc003crj.2_5'UTR|C3orf75_uc011bba.1_Silent_p.T11T|C3orf75_uc003crl.1_Missense_Mutation_p.H37N NM_001031703 NP_001026873 Q0PNE2 CC075_HUMAN transmembrane protein 103 37 0 GAGAGAAAGTGGTGTACAAGG 0.403 NA 8 51 9.7e-10 1.65e-09 1 0 ATRIP 84126 broad.mit.edu 37 3 48491541 48491541 + Missense_Mutation SNP G G T TCGA-CR-7367-01A-11D-2012-08 TCGA-CR-7367-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b82e34db-7b0e-4bbd-bc42-ba063ac42409 b93dc36c-99c1-4b6d-88c1-97d65bad89d2 g.chr3:48491541G>T uc003ctf.1 + 2 378 c.346G>T c.(346-348)GTA>TTA p.V116L ATRIP_uc011bbj.1_5'UTR|ATRIP_uc003ctg.1_Missense_Mutation_p.V116L NM_130384 NP_569055 Q8WXE1 ATRIP_HUMAN ATR interacting protein isoform 1 116 Potential. DNA damage checkpoint|DNA repair|DNA replication nucleoplasm protein binding|protein serine/threonine kinase activity ovary(1) 1 BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632) CGAATTAGAGGTACTTCAGGC 0.333 NA Other_conserved_DNA_damage_response_genes 31 53 1.89e-17 3.39e-17 1 0 RNF123 63891 broad.mit.edu 37 3 49744294 49744294 + Missense_Mutation SNP G G A TCGA-CR-7367-01A-11D-2012-08 TCGA-CR-7367-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b82e34db-7b0e-4bbd-bc42-ba063ac42409 b93dc36c-99c1-4b6d-88c1-97d65bad89d2 g.chr3:49744294G>A uc003cxh.2 + 26 2545 c.2459G>A c.(2458-2460)CGC>CAC p.R820H RNF123_uc010hky.1_Missense_Mutation_p.R482H|RNF123_uc003cxi.2_RNA NM_022064 NP_071347 Q5XPI4 RN123_HUMAN ring finger protein 123 820 cytoplasm ligase activity|protein binding|zinc ion binding kidney(3)|ovary(1)|lung(1)|breast(1)|skin(1) 7 BRCA - Breast invasive adenocarcinoma(193;4.71e-05)|Kidney(197;0.00227)|KIRC - Kidney renal clear cell carcinoma(197;0.00255) CACCTGAGCCGCCGTCTTGCC 0.567 NA 12 45 0 0 0 0 CBLB 868 broad.mit.edu 37 3 105421037 105421037 + Silent SNP T T A TCGA-CR-7367-01A-11D-2012-08 TCGA-CR-7367-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b82e34db-7b0e-4bbd-bc42-ba063ac42409 b93dc36c-99c1-4b6d-88c1-97d65bad89d2 g.chr3:105421037T>A uc003dwc.2 - 12 2182 c.1860A>T c.(1858-1860)ACA>ACT p.T620T CBLB_uc011bhi.1_Silent_p.T642T|CBLB_uc003dwd.1_Silent_p.T620T|CBLB_uc003dwe.1_Silent_p.T620T NM_170662 NP_733762 Q13191 CBLB_HUMAN Cas-Br-M (murine) ecotropic retroviral 620 Pro-rich. cell surface receptor linked signaling pathway|NLS-bearing substrate import into nucleus cytoplasm|nucleus calcium ion binding|ligase activity|signal transducer activity|zinc ion binding lung(4)|ovary(3)|breast(1)|skin(1) 9 TTGAACTCGCTGTGATTCCAG 0.517 NA Mis S AML 20 100 0 0 0 0 CCDC54 84692 broad.mit.edu 37 3 107096565 107096565 + Missense_Mutation SNP G G C TCGA-CR-7367-01A-11D-2012-08 TCGA-CR-7367-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b82e34db-7b0e-4bbd-bc42-ba063ac42409 b93dc36c-99c1-4b6d-88c1-97d65bad89d2 g.chr3:107096565G>C uc003dwi.1 + 1 378 c.131G>C c.(130-132)GGA>GCA p.G44A NM_032600 NP_115989 Q8NEL0 CCD54_HUMAN coiled-coil domain containing 54 44 0 GATTCAACTGGATATCCCACT 0.398 NA 16 94 0 0 0 0 LRRC58 116064 broad.mit.edu 37 3 120053967 120053967 + Silent SNP G G A TCGA-CR-7367-01A-11D-2012-08 TCGA-CR-7367-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b82e34db-7b0e-4bbd-bc42-ba063ac42409 b93dc36c-99c1-4b6d-88c1-97d65bad89d2 g.chr3:120053967G>A uc003edr.2 - 3 745 c.649C>T c.(649-651)CTA>TTA p.L217L NM_001099678 NP_001093148 Q96CX6 LRC58_HUMAN leucine rich repeat containing 58 217 LRR 8. 0 GBM - Glioblastoma multiforme(114;0.147) TGAAGACTTAGGGAACGAAGT 0.348 NA 4 53 0 0 0 0 UROC1 131669 broad.mit.edu 37 3 126220060 126220060 + Splice_Site SNP C C T TCGA-CR-7367-01A-11D-2012-08 TCGA-CR-7367-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b82e34db-7b0e-4bbd-bc42-ba063ac42409 b93dc36c-99c1-4b6d-88c1-97d65bad89d2 g.chr3:126220060C>T uc003eiz.1 - 10 997 c.965_splice c.e10+1 p.W322_splice UROC1_uc010hsi.1_Splice_Site_p.W382_splice NM_144639 NP_653240 Q96N76 HUTU_HUMAN urocanase domain containing 1 isoform 1 histidine catabolic process cytosol urocanate hydratase activity ovary(1) 1 GBM - Glioblastoma multiforme(114;0.17) CCCCCACTCACCAAAGAGCCA 0.562 NA 29 282 0 0 0 0 ASTE1 28990 broad.mit.edu 37 3 130742943 130742943 + Missense_Mutation SNP C C A TCGA-CR-7367-01A-11D-2012-08 TCGA-CR-7367-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b82e34db-7b0e-4bbd-bc42-ba063ac42409 b93dc36c-99c1-4b6d-88c1-97d65bad89d2 g.chr3:130742943C>A uc003env.1 - 3 1650 c.1208G>T c.(1207-1209)AGT>ATT p.S403I NEK11_uc003enx.2_5'Flank|NEK11_uc003eny.2_5'Flank|NEK11_uc003eoa.2_5'Flank|NEK11_uc003enz.2_5'Flank|NEK11_uc010htn.2_5'Flank|NEK11_uc011blk.1_5'Flank|NEK11_uc011bll.1_5'Flank|NEK11_uc003enw.1_5'Flank|NEK11_uc011blm.1_5'Flank|ASTE1_uc010htm.1_Missense_Mutation_p.S403I|ASTE1_uc011blj.1_RNA NM_014065 NP_054784 Q2TB18 ASTE1_HUMAN asteroid homolog 1 403 DNA repair nuclease activity 0 TTCCACTTCACTGAAAGCTAG 0.428 NA 48 106 6.77e-33 1.24e-32 1 0 TMEM22 80723 broad.mit.edu 37 3 136574278 136574278 + Missense_Mutation SNP G G A TCGA-CR-7367-01A-11D-2012-08 TCGA-CR-7367-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b82e34db-7b0e-4bbd-bc42-ba063ac42409 b93dc36c-99c1-4b6d-88c1-97d65bad89d2 g.chr3:136574278G>A uc003erf.3 + 2 1190 c.976G>A c.(976-978)GTC>ATC p.V326I TMEM22_uc003erg.3_Missense_Mutation_p.V326I|TMEM22_uc010hub.2_Missense_Mutation_p.V326I NM_001097600 NP_001091069 Q8TBE7 TMM22_HUMAN transmembrane protein 22 326 DUF6 2.|Helical; (Potential). Golgi apparatus|integral to membrane ovary(1) 1 TGCTATATGTGTCTGTTCTAC 0.393 NA 75 189 0 0 0 0 TM4SF4 7104 broad.mit.edu 37 3 149216509 149216509 + Silent SNP G G C TCGA-CR-7367-01A-11D-2012-08 TCGA-CR-7367-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b82e34db-7b0e-4bbd-bc42-ba063ac42409 b93dc36c-99c1-4b6d-88c1-97d65bad89d2 g.chr3:149216509G>C uc003exd.1 + 4 633 c.402G>C c.(400-402)GGG>GGC p.G134G NM_004617 NP_004608 P48230 T4S4_HUMAN transmembrane 4 superfamily member 4 134 Extracellular (Potential). integral to membrane 0 LUSC - Lung squamous cell carcinoma(72;0.0378)|Lung(72;0.048) TCACCAACAGGGATTATCTCA 0.448 NA 4 35 0 0 0 0 PIK3CA 5290 broad.mit.edu 37 3 178952085 178952085 + Missense_Mutation SNP A A G rs121913279 TCGA-CR-7367-01A-11D-2012-08 TCGA-CR-7367-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b82e34db-7b0e-4bbd-bc42-ba063ac42409 b93dc36c-99c1-4b6d-88c1-97d65bad89d2 g.chr3:178952085A>G uc003fjk.2 + 21 3297 c.3140A>G c.(3139-3141)CAT>CGT p.H1047R NM_006218 NP_006209 P42336 PK3CA_HUMAN phosphoinositide-3-kinase, catalytic, alpha 1047 PI3K/PI4K. H -> L (in cancer).|H -> R (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; requires binding to p85 regulatory subunit to induce cellular transformation but not interaction with RAS; may mimic the conformatitonal change triggered by the interaction with RAS; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells; increases lipid kinase activity; may alter the interaction of the PI3K/ PI4K kinase domain with the cell membrane).|H -> Y (in cancer). epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity p.H1047R(1269)|p.H1047L(152)|p.H1047Y(31)|p.H1047Q(3)|p.H1047T(1) breast(1564)|large_intestine(776)|endometrium(246)|urinary_tract(195)|ovary(141)|skin(112)|stomach(98)|thyroid(77)|central_nervous_system(69)|lung(65)|upper_aerodigestive_tract(58)|haematopoietic_and_lymphoid_tissue(27)|cervix(25)|biliary_tract(22)|liver(20)|oesophagus(17)|pancreas(11)|penis(8)|pituitary(8)|autonomic_ganglia(4)|prostate(3)|kidney(2)|meninges(1)|eye(1)|NS(1)|soft_tissue(1)|bone(1) 3553 all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155) OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282) AATGATGCACATCATGGTGGC 0.378 H1047R(BT20_BREAST)|H1047R(NCIH1048_LUNG)|H1047R(MCAS_OVARY)|H1047R(HCC1954_BREAST)|H1047R(RKO_LARGE_INTESTINE)|H1047L(EFM19_BREAST)|H1047R(CAL33_UPPER_AERODIGESTIVE_TRACT)|H1047R(CAL29_URINARY_TRACT)|H1047R(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|H1047R(LS180_LARGE_INTESTINE)|H1047R(T47D_BREAST)|H1047R(HCT116_LARGE_INTESTINE)|H1047R(HSC2_UPPER_AERODIGESTIVE_TRACT)|H1047R(SKOV3_OVARY)|H1047R(MDAMB453_BREAST) 57 Mis colorectal|gastric|gliobastoma|breast HNSCC(19;0.045)|TSP Lung(28;0.18) 6 43 0 0 0 0 FAM131A 131408 broad.mit.edu 37 3 184059698 184059698 + Missense_Mutation SNP G G A TCGA-CR-7367-01A-11D-2012-08 TCGA-CR-7367-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b82e34db-7b0e-4bbd-bc42-ba063ac42409 b93dc36c-99c1-4b6d-88c1-97d65bad89d2 g.chr3:184059698G>A uc003fog.2 + 1 1441 c.77G>A c.(76-78)GGG>GAG p.G26E FAM131A_uc003fob.1_Intron|FAM131A_uc003foc.2_Intron|FAM131A_uc003foe.2_Intron NM_144635 NP_653236 Q6UXB0 F131A_HUMAN hypothetical protein LOC131408 precursor 26 extracellular region breast(1) 1 all_cancers(143;1.06e-10)|Ovarian(172;0.0339) Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22) TACATGCTGGGGTCTCCCCTT 0.547 NA 67 127 0 0 0 0 C3orf59 151963 broad.mit.edu 37 3 192516720 192516720 + Missense_Mutation SNP G G C TCGA-CR-7367-01A-11D-2012-08 TCGA-CR-7367-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b82e34db-7b0e-4bbd-bc42-ba063ac42409 b93dc36c-99c1-4b6d-88c1-97d65bad89d2 g.chr3:192516720G>C uc011bsp.1 - 2 1252 c.931C>G c.(931-933)CAG>GAG p.Q311E NM_178496 NP_848591 Q8IYB1 M21D2_HUMAN hypothetical protein LOC151963 311 0 all_cancers(143;1.56e-08)|Ovarian(172;0.0634) OV - Ovarian serous cystadenocarcinoma(49;2.8e-18)|LUSC - Lung squamous cell carcinoma(58;8.04e-06)|Lung(62;8.62e-06) GBM - Glioblastoma multiforme(46;3.86e-05) TTGCAGGCCTGATAGGCCTGC 0.557 NA 9 40 0 0 0 0 WHSC1 7468 broad.mit.edu 37 4 1955057 1955057 + Missense_Mutation SNP A A T TCGA-CR-7367-01A-11D-2012-08 TCGA-CR-7367-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b82e34db-7b0e-4bbd-bc42-ba063ac42409 b93dc36c-99c1-4b6d-88c1-97d65bad89d2 g.chr4:1955057A>T uc003gdz.3 + 12 2320 c.2144A>T c.(2143-2145)CAC>CTC p.H715L WHSC1_uc003geb.3_Missense_Mutation_p.H715L|WHSC1_uc003gec.3_Missense_Mutation_p.H715L|WHSC1_uc003ged.3_Missense_Mutation_p.H715L|WHSC1_uc003gee.3_RNA|WHSC1_uc003gef.3_RNA|WHSC1_uc003gei.3_5'UTR|WHSC1_uc011bvh.1_5'UTR|WHSC1_uc010icf.2_Missense_Mutation_p.H63L NM_001042424 NP_001035889 O96028 NSD2_HUMAN Wolf-Hirschhorn syndrome candidate 1 protein 715 PHD-type 2. anatomical structure morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|cytoplasm|nuclear membrane|nucleolus DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding ovary(3)|lung(3)|skin(2)|pancreas(1) 9 all_epithelial(65;1.34e-05) OV - Ovarian serous cystadenocarcinoma(23;0.00606) STAD - Stomach adenocarcinoma(129;0.232) TTAGGGATTCACTCATGTTTC 0.403 NA T IGH@ MM 10 87 0 0 0 0 SCFD2 152579 broad.mit.edu 37 4 53751945 53751945 + Missense_Mutation SNP T T C TCGA-CR-7367-01A-11D-2012-08 TCGA-CR-7367-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b82e34db-7b0e-4bbd-bc42-ba063ac42409 b93dc36c-99c1-4b6d-88c1-97d65bad89d2 g.chr4:53751945T>C uc003gzu.2 - 8 2065 c.1931A>G c.(1930-1932)GAT>GGT p.D644G SCFD2_uc010igm.2_Missense_Mutation_p.D599G NM_152540 NP_689753 Q8WU76 SCFD2_HUMAN sec1 family domain containing 2 644 protein transport|vesicle docking involved in exocytosis ovary(2)|pancreas(1) 3 GBM - Glioblastoma multiforme(3;1.07e-26)|LUSC - Lung squamous cell carcinoma(32;0.0134) TGCCACAAGATCTTTGACCAT 0.532 NA 10 87 0 0 0 0 UGT2B4 7363 broad.mit.edu 37 4 70359477 70359477 + Missense_Mutation SNP G G T TCGA-CR-7367-01A-11D-2012-08 TCGA-CR-7367-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b82e34db-7b0e-4bbd-bc42-ba063ac42409 b93dc36c-99c1-4b6d-88c1-97d65bad89d2 g.chr4:70359477G>T uc003hek.3 - 2 851 c.804C>A c.(802-804)CAC>CAA p.H268Q UGT2B4_uc011cap.1_Missense_Mutation_p.H132Q|UGT2B4_uc003hel.3_Missense_Mutation_p.H268Q NM_021139 NP_066962 P06133 UD2B4_HUMAN UDP glucuronosyltransferase 2B4 precursor 268 estrogen catabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome glucuronosyltransferase activity skin(2) 2 GTAAGAGTGGGTGAGGAAATT 0.423 NA 40 88 4.33e-17 7.75e-17 1 0 SLC4A4 8671 broad.mit.edu 37 4 72423471 72423471 + Nonsense_Mutation SNP C C T TCGA-CR-7367-01A-11D-2012-08 TCGA-CR-7367-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b82e34db-7b0e-4bbd-bc42-ba063ac42409 b93dc36c-99c1-4b6d-88c1-97d65bad89d2 g.chr4:72423471C>T uc003hfy.2 + 22 2923 c.2806C>T c.(2806-2808)CAG>TAG p.Q936* SLC4A4_uc010iic.2_Nonsense_Mutation_p.Q936*|SLC4A4_uc010iib.2_Nonsense_Mutation_p.Q852*|SLC4A4_uc003hfz.2_Nonsense_Mutation_p.Q936*|SLC4A4_uc003hgc.3_Nonsense_Mutation_p.Q892*|SLC4A4_uc010iid.2_Nonsense_Mutation_p.Q140* NM_001098484 NP_001091954 Q9Y6R1 S4A4_HUMAN solute carrier family 4, sodium bicarbonate 936 Cytoplasmic (Potential). basolateral plasma membrane|integral to plasma membrane inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity ovary(3)|kidney(1)|skin(1) 5 Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225) TCTGAAGCATCAGCCTGACTT 0.507 NA 15 41 0 0 0 0 NPFFR2 10886 broad.mit.edu 37 4 73012719 73012719 + Missense_Mutation SNP T T G TCGA-CR-7367-01A-11D-2012-08 TCGA-CR-7367-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b82e34db-7b0e-4bbd-bc42-ba063ac42409 b93dc36c-99c1-4b6d-88c1-97d65bad89d2 g.chr4:73012719T>G uc003hgg.2 + 4 857 c.759T>G c.(757-759)TTT>TTG p.F253L NPFFR2_uc010iig.1_Missense_Mutation_p.F35L|NPFFR2_uc003hgi.2_Missense_Mutation_p.F154L|NPFFR2_uc003hgh.2_Missense_Mutation_p.F151L|NPFFR2_uc003hgj.2_RNA NM_004885 NP_004876 Q9Y5X5 NPFF2_HUMAN neuropeptide FF receptor 2 isoform 1 253 Cytoplasmic (Potential). detection of abiotic stimulus actin cytoskeleton|integral to plasma membrane neuropeptide receptor activity ovary(2)|central_nervous_system(1) 3 Lung(101;0.0935)|LUSC - Lung squamous cell carcinoma(112;0.138) TCTACCCTTTTAAACCAAAGC 0.388 NA 13 169 0 0 0 0 FAM175A 84142 broad.mit.edu 37 4 84384670 84384670 + Missense_Mutation SNP C C A TCGA-CR-7367-01A-11D-2012-08 TCGA-CR-7367-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b82e34db-7b0e-4bbd-bc42-ba063ac42409 b93dc36c-99c1-4b6d-88c1-97d65bad89d2 g.chr4:84384670C>A uc003hou.2 - 8 838 c.773G>T c.(772-774)AGA>ATA p.R258I MRPS18C_uc011ccu.1_Intron|FAM175A_uc003hot.2_Missense_Mutation_p.R86I|FAM175A_uc003hov.2_Missense_Mutation_p.R149I NM_139076 NP_620775 Q6UWZ7 F175A_HUMAN coiled-coil domain containing 98 258 Potential. chromatin modification|double-strand break repair|G2/M transition DNA damage checkpoint|positive regulation of DNA repair|response to ionizing radiation BRCA1-A complex polyubiquitin binding kidney(1) 1 CTGTGCTCCTCTCCTTTTCTC 0.284 NA 10 66 7.48e-07 1.25e-06 1 0 MAPK10 5602 broad.mit.edu 37 4 86988972 86988972 + Missense_Mutation SNP G G C TCGA-CR-7367-01A-11D-2012-08 TCGA-CR-7367-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b82e34db-7b0e-4bbd-bc42-ba063ac42409 b93dc36c-99c1-4b6d-88c1-97d65bad89d2 g.chr4:86988972G>C uc003hpq.2 - 9 1006 c.939C>G c.(937-939)TTC>TTG p.F313L MAPK10_uc010ikg.2_Missense_Mutation_p.F275L|MAPK10_uc003hpr.2_Missense_Mutation_p.F275L|MAPK10_uc003hps.2_Missense_Mutation_p.F313L|MAPK10_uc003hpt.2_Missense_Mutation_p.F313L|MAPK10_uc003hpu.2_Missense_Mutation_p.F313L|MAPK10_uc003hpv.2_Missense_Mutation_p.F168L|MAPK10_uc003hpn.2_Missense_Mutation_p.F61L|MAPK10_uc003hpo.2_Missense_Mutation_p.F168L|MAPK10_uc011ccw.1_Missense_Mutation_p.F199L|MAPK10_uc003hpp.2_Missense_Mutation_p.F168L NM_138982 NP_620448 P53779 MK10_HUMAN mitogen-activated protein kinase 10 isoform 2 313 Protein kinase. innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|regulation of sequence-specific DNA binding transcription factor activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|nucleoplasm ATP binding|JUN kinase activity|MAP kinase kinase activity|protein binding stomach(1)|breast(1)|central_nervous_system(1) 3 Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.243) OV - Ovarian serous cystadenocarcinoma(123;0.002) GGGAATCTGGGAAGAGTTTGG 0.488 NA 10 27 0 0 0 0 HERC6 55008 broad.mit.edu 37 4 89318075 89318075 + Missense_Mutation SNP C C A TCGA-CR-7367-01A-11D-2012-08 TCGA-CR-7367-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b82e34db-7b0e-4bbd-bc42-ba063ac42409 b93dc36c-99c1-4b6d-88c1-97d65bad89d2 g.chr4:89318075C>A uc011cdi.1 + 7 1143 c.960C>A c.(958-960)AGC>AGA p.S320R HERC6_uc003hrp.1_Intron|HERC6_uc011cdj.1_Missense_Mutation_p.S320R|HERC6_uc011cdk.1_RNA|HERC6_uc011cdl.1_Intron NM_017912 NP_060382 Q8IVU3 HERC6_HUMAN hect domain and RLD 6 isoform 1 320 protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytosol ubiquitin-protein ligase activity lung(3)|ovary(1)|kidney(1) 5 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;0.000222) GTGACACAAGCAAGCCAACTC 0.453 NA 7 141 0.00307968 0.00471199 1 0 ADH4 127 broad.mit.edu 37 4 100062731 100062731 + Missense_Mutation SNP C C T TCGA-CR-7367-01A-11D-2012-08 TCGA-CR-7367-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b82e34db-7b0e-4bbd-bc42-ba063ac42409 b93dc36c-99c1-4b6d-88c1-97d65bad89d2 g.chr4:100062731C>T uc003hun.2 - 3 299 c.223G>A c.(223-225)GTG>ATG p.V75M uc003hum.1_Intron|ADH4_uc011ced.1_Missense_Mutation_p.V94M NM_000670 NP_000661 P08319 ADH4_HUMAN class II alcohol dehydrogenase, pi subunit 75 alcohol catabolic process|cellular aldehyde metabolic process|ethanol oxidation|quinone cofactor metabolic process|retinol metabolic process|xenobiotic metabolic process cytosol|microtubule cytoskeleton alcohol dehydrogenase activity, zinc-dependent|all-trans retinal binding|benzaldehyde dehydrogenase activity|NAD binding|NADPH:quinone reductase activity|retinol binding|retinol dehydrogenase activity|zinc ion binding skin(2) 2 OV - Ovarian serous cystadenocarcinoma(123;4.48e-08) NADH(DB00157) ATACTTTCCACAATACCTGCA 0.403 NA 5 24 0 0 0 0 ADH1A 124 broad.mit.edu 37 4 100205642 100205642 + Missense_Mutation SNP T T C TCGA-CR-7367-01A-11D-2012-08 TCGA-CR-7367-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b82e34db-7b0e-4bbd-bc42-ba063ac42409 b93dc36c-99c1-4b6d-88c1-97d65bad89d2 g.chr4:100205642T>C uc003hur.1 - 5 552 c.481A>G c.(481-483)ATT>GTT p.I161V uc003hum.1_Intron|ADH1A_uc011ceg.1_Missense_Mutation_p.I161V|ADH1A_uc010ilf.1_5'UTR NM_000667 NP_000658 P07327 ADH1A_HUMAN class I alcohol dehydrogenase, alpha subunit 161 ethanol oxidation|transcription, DNA-dependent|xenobiotic metabolic process cytosol alcohol dehydrogenase activity, zinc-dependent|protein binding|zinc ion binding large_intestine(1)|ovary(1) 2 OV - Ovarian serous cystadenocarcinoma(123;9.56e-08) Fomepizole(DB01213)|NADH(DB00157) GCTGCATCAATTTTGGCTACT 0.493 NA 9 43 0 0 0 0 LEF1 51176 broad.mit.edu 37 4 109088757 109088757 + Missense_Mutation SNP G G A TCGA-CR-7367-01A-11D-2012-08 TCGA-CR-7367-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b82e34db-7b0e-4bbd-bc42-ba063ac42409 b93dc36c-99c1-4b6d-88c1-97d65bad89d2 g.chr4:109088757G>A uc003hyt.1 - 1 822 c.167C>T c.(166-168)TCC>TTC p.S56F LEF1_uc011cfj.1_5'Flank|LEF1_uc011cfk.1_5'Flank|LEF1_uc003hyu.1_Missense_Mutation_p.S56F|LEF1_uc003hyv.1_Missense_Mutation_p.S56F|LEF1_uc010imb.1_RNA NM_016269 NP_057353 Q9UJU2 LEF1_HUMAN lymphoid enhancer-binding factor 1 isoform 1 56 CTNNB1-binding (By similarity). canonical Wnt receptor signaling pathway|cell chemotaxis|cellular response to interleukin-4|epithelial to mesenchymal transition|histone H3 acetylation|histone H4 acetylation|negative regulation of apoptosis in bone marrow|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell-cell adhesion|negative regulation of DNA binding|negative regulation of estrogen receptor binding|negative regulation of interleukin-13 production|negative regulation of interleukin-4 production|negative regulation of interleukin-5 production|negative regulation of transcription, DNA-dependent|neutrophil differentiation|osteoblast differentiation|palate development|positive regulation by host of viral transcription|positive regulation of cell cycle process|positive regulation of cell growth|positive regulation of cell migration|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of cell proliferation in bone marrow|positive regulation of cell-cell adhesion|positive regulation of epithelial to mesenchymal transition|positive regulation of granulocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|T-helper 1 cell differentiation cytoplasm|protein-DNA complex|transcription factor complex armadillo repeat domain binding|beta-catenin binding|C2H2 zinc finger domain binding|caspase inhibitor activity|DNA bending activity|enhancer binding|estrogen receptor activity|estrogen receptor binding|gamma-catenin binding|histone binding|sequence-specific DNA binding|transcription regulatory region DNA binding large_intestine(1) 1 OV - Ovarian serous cystadenocarcinoma(123;0.000224) GTTCACCAAGGAAGACTTGAT 0.577 NA 19 89 0 0 0 0 COL25A1 84570 broad.mit.edu 37 4 110222987 110222987 + Silent SNP G G A TCGA-CR-7367-01A-11D-2012-08 TCGA-CR-7367-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b82e34db-7b0e-4bbd-bc42-ba063ac42409 b93dc36c-99c1-4b6d-88c1-97d65bad89d2 g.chr4:110222987G>A uc003hze.1 - 2 720 c.189C>T c.(187-189)ATC>ATT p.I63I COL25A1_uc003hzg.2_Silent_p.I63I|COL25A1_uc003hzh.1_Silent_p.I63I NM_198721 NP_942014 Q9BXS0 COPA1_HUMAN collagen, type XXV, alpha 1 isoform 1 63 Extracellular (Potential). collagen|extracellular space beta-amyloid binding|heparin binding ovary(2) 2 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;0.000173) CGAGAGCGGCGATCCTCGCCT 0.607 NA 11 74 0 0 0 0 DCHS2 54798 broad.mit.edu 37 4 155158157 155158157 + Silent SNP G G A TCGA-CR-7367-01A-11D-2012-08 TCGA-CR-7367-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b82e34db-7b0e-4bbd-bc42-ba063ac42409 b93dc36c-99c1-4b6d-88c1-97d65bad89d2 g.chr4:155158157G>A uc003inw.2 - 25 6282 c.6282C>T c.(6280-6282)TTC>TTT p.F2094F NM_017639 NP_060109 Q6V1P9 PCD23_HUMAN dachsous 2 isoform 1 2094 Cadherin 18. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(3)|pancreas(1) 4 all_hematologic(180;0.208) Renal(120;0.0854) LUSC - Lung squamous cell carcinoma(193;0.107) ATTTGACTGTGAATTCAGGGG 0.418 NA 17 90 0 0 0 0 SEMA5A 9037 broad.mit.edu 37 5 9066574 9066574 + Missense_Mutation SNP C C T TCGA-CR-7367-01A-11D-2012-08 TCGA-CR-7367-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b82e34db-7b0e-4bbd-bc42-ba063ac42409 b93dc36c-99c1-4b6d-88c1-97d65bad89d2 g.chr5:9066574C>T uc003jek.2 - 17 2970 c.2258G>A c.(2257-2259)CGG>CAG p.R753Q NM_003966 NP_003957 Q13591 SEM5A_HUMAN semaphorin 5A precursor 753 TSP type-1 4.|Extracellular (Potential). cell adhesion|cell-cell signaling integral to membrane|plasma membrane ovary(1)|central_nervous_system(1) 2 AGAACAGTACCGCATTTCGAT 0.537 NA 29 128 0 0 0 0 CDH6 1004 broad.mit.edu 37 5 31323025 31323025 + Silent SNP C C T TCGA-CR-7367-01A-11D-2012-08 TCGA-CR-7367-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b82e34db-7b0e-4bbd-bc42-ba063ac42409 b93dc36c-99c1-4b6d-88c1-97d65bad89d2 g.chr5:31323025C>T uc003jhe.1 + 12 2309 c.1983C>T c.(1981-1983)GAC>GAT p.D661D NM_004932 NP_004923 P55285 CADH6_HUMAN cadherin 6, type 2 preproprotein 661 Cytoplasmic (Potential). adherens junction organization|cell junction assembly|homophilic cell adhesion cytoplasm|integral to membrane|nucleus|plasma membrane calcium ion binding ovary(4)|skin(2)|large_intestine(1) 7 GTTACAACGACGAAGGTGGTG 0.493 NA 12 66 0 0 0 0 OSMR 9180 broad.mit.edu 37 5 38933399 38933399 + Silent SNP T T C TCGA-CR-7367-01A-11D-2012-08 TCGA-CR-7367-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b82e34db-7b0e-4bbd-bc42-ba063ac42409 b93dc36c-99c1-4b6d-88c1-97d65bad89d2 g.chr5:38933399T>C uc003jln.1 + 18 3160 c.2793T>C c.(2791-2793)AGT>AGC p.S931S OSMR_uc011cpj.1_Silent_p.S135S NM_003999 NP_003990 Q99650 OSMR_HUMAN oncostatin M receptor precursor 931 Cytoplasmic (Potential). cell proliferation|positive regulation of cell proliferation oncostatin-M receptor complex growth factor binding|oncostatin-M receptor activity ovary(2)|pancreas(1)|central_nervous_system(1)|skin(1) 5 all_lung(31;0.000365) ACAAGGACAGTCTCCCAACAA 0.483 NA 19 171 0 0 0 0 ANKRD55 79722 broad.mit.edu 37 5 55407004 55407004 + Missense_Mutation SNP G G T TCGA-CR-7367-01A-11D-2012-08 TCGA-CR-7367-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b82e34db-7b0e-4bbd-bc42-ba063ac42409 b93dc36c-99c1-4b6d-88c1-97d65bad89d2 g.chr5:55407004G>T uc003jqu.2 - 10 1723 c.1571C>A c.(1570-1572)CCT>CAT p.P524H ANKRD55_uc003jqt.2_Missense_Mutation_p.P236H NM_024669 NP_078945 Q3KP44 ANR55_HUMAN ankyrin repeat domain 55 isoform 1 523 skin(1) 1 Lung NSC(810;8.69e-05)|Prostate(74;0.00634)|Breast(144;0.0334)|Ovarian(174;0.223) TTGGTGACCAGGCCGGACACT 0.463 NA 22 168 2.22e-12 3.86e-12 1 0 MCCC2 64087 broad.mit.edu 37 5 70898414 70898414 + Silent SNP G G A TCGA-CR-7367-01A-11D-2012-08 TCGA-CR-7367-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b82e34db-7b0e-4bbd-bc42-ba063ac42409 b93dc36c-99c1-4b6d-88c1-97d65bad89d2 g.chr5:70898414G>A uc003kbs.3 + 5 603 c.465G>A c.(463-465)CGG>CGA p.R155R MCCC2_uc010iyv.1_Silent_p.R155R|MCCC2_uc003kbt.3_RNA|MCCC2_uc003kbu.1_Silent_p.R24R NM_022132 NP_071415 Q9HCC0 MCCB_HUMAN methylcrotonoyl-Coenzyme A carboxylase 2 (beta) 155 Carboxyltransferase. R -> Q (in MCC2 deficiency; mild form). leucine catabolic process mitochondrial inner membrane|mitochondrial matrix ATP binding|methylcrotonoyl-CoA carboxylase activity ovary(1) 1 Lung NSC(167;0.000697)|Prostate(74;0.0107)|Ovarian(174;0.0175)|Breast(144;0.198) OV - Ovarian serous cystadenocarcinoma(47;2.04e-54) Biotin(DB00121) AACAATTACGGGCCCAAGAAA 0.418 NA 5 43 0 0 0 0 MTX3 345778 broad.mit.edu 37 5 79282892 79282892 + Missense_Mutation SNP G G T TCGA-CR-7367-01A-11D-2012-08 TCGA-CR-7367-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b82e34db-7b0e-4bbd-bc42-ba063ac42409 b93dc36c-99c1-4b6d-88c1-97d65bad89d2 g.chr5:79282892G>T uc010jag.2 - 7 647 c.620C>A c.(619-621)GCA>GAA p.A207E MTX3_uc010jah.2_Missense_Mutation_p.A207E|MTX3_uc003kge.3_Missense_Mutation_p.A146E|MTX3_uc003kgf.1_RNA NM_001010891 NP_001010891 Q5HYI7 MTX3_HUMAN metaxin 3 207 protein targeting to mitochondrion mitochondrial outer membrane 0 Lung NSC(167;0.00428)|all_lung(232;0.00455)|Ovarian(174;0.0261) OV - Ovarian serous cystadenocarcinoma(54;1.63e-45)|Epithelial(54;2.9e-40)|all cancers(79;4.68e-35) GTAAAGAGGTGCAAGAAAACC 0.348 NA 17 44 2.35e-11 4.07e-11 1 0 WNT8A 7478 broad.mit.edu 37 5 137426351 137426351 + Silent SNP G G A TCGA-CR-7367-01A-11D-2012-08 TCGA-CR-7367-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b82e34db-7b0e-4bbd-bc42-ba063ac42409 b93dc36c-99c1-4b6d-88c1-97d65bad89d2 g.chr5:137426351G>A uc003lcd.1 + 6 650 c.645G>A c.(643-645)GCG>GCA p.A215A BRD8_uc003lcc.1_Intron|WNT8A_uc011cyj.1_Silent_p.A233A|WNT8A_uc011cyk.1_Silent_p.A233A NM_058244 NP_490645 Q9H1J5 WNT8A_HUMAN wingless-type MMTV integration site family, 215 brain segmentation|canonical Wnt receptor signaling pathway involved in neural crest cell differentiation|cell migration involved in gastrulation|dorsal/ventral pattern formation|ectoderm development|endoderm development|eye development|hindbrain development|mesodermal cell fate commitment|negative regulation of Wnt receptor signaling pathway|neural crest cell fate commitment|neural plate pattern specification|notochord development|palate development|polarity specification of anterior/posterior axis|polarity specification of proximal/distal axis|positive regulation of fibroblast growth factor receptor signaling pathway|regulation of transcription involved in anterior/posterior axis specification|response to retinoic acid|somitogenesis|spinal cord anterior/posterior patterning|tail morphogenesis|Wnt receptor signaling pathway, calcium modulating pathway extracellular space|plasma membrane|proteinaceous extracellular matrix frizzled binding|signal transducer activity ovary(1)|lung(1)|breast(1)|skin(1) 4 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109) ATGACCAGGCGCTGAAAATTG 0.587 NA 8 41 0 0 0 0 PCDHA1 56147 broad.mit.edu 37 5 140165973 140165973 + Missense_Mutation SNP A A C TCGA-CR-7367-01A-11D-2012-08 TCGA-CR-7367-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b82e34db-7b0e-4bbd-bc42-ba063ac42409 b93dc36c-99c1-4b6d-88c1-97d65bad89d2 g.chr5:140165973A>C uc003lhb.2 + 1 98 c.98A>C c.(97-99)TAC>TCC p.Y33S PCDHA1_uc003lha.2_Missense_Mutation_p.Y33S|PCDHA1_uc003lgz.2_Missense_Mutation_p.Y33S NM_018900 NP_061723 Q9Y5I3 PCDA1_HUMAN protocadherin alpha 1 isoform 1 precursor 33 Cadherin 1.|Extracellular (Potential). homophilic cell adhesion|nervous system development extracellular region|integral to plasma membrane calcium ion binding|protein binding skin(1) 1 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CAGCTCCACTACTCGATCCCG 0.652 NA 12 80 0 0 0 0 PCDHA6 56142 broad.mit.edu 37 5 140209865 140209865 + Missense_Mutation SNP G G A TCGA-CR-7367-01A-11D-2012-08 TCGA-CR-7367-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b82e34db-7b0e-4bbd-bc42-ba063ac42409 b93dc36c-99c1-4b6d-88c1-97d65bad89d2 g.chr5:140209865G>A uc003lho.2 + 1 2216 c.2189G>A c.(2188-2190)GGC>GAC p.G730D PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc011dab.1_Missense_Mutation_p.G730D NM_018909 NP_061732 Q9UN73 PCDA6_HUMAN protocadherin alpha 6 isoform 1 precursor 730 Cytoplasmic (Potential). homophilic cell adhesion|nervous system development extracellular region|integral to plasma membrane calcium ion binding|protein binding haematopoietic_and_lymphoid_tissue(1)|skin(1) 2 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CCCACCGAGGGCGCGTGCACG 0.682 NA 31 55 0 0 0 0 PCDHAC2 56134 broad.mit.edu 37 5 140346785 140346785 + Nonsense_Mutation SNP C C G TCGA-CR-7367-01A-11D-2012-08 TCGA-CR-7367-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b82e34db-7b0e-4bbd-bc42-ba063ac42409 b93dc36c-99c1-4b6d-88c1-97d65bad89d2 g.chr5:140346785C>G uc003lii.2 + 1 674 c.434C>G c.(433-435)TCA>TGA p.S145* PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc003lia.2_Intron|PCDHA12_uc003lic.2_Intron|PCDHA13_uc003lie.1_Intron|PCDHA13_uc003lif.2_Intron|PCDHAC1_uc003lih.2_Intron|PCDHAC2_uc011dag.1_Nonsense_Mutation_p.S145* NM_018899 NP_061722 Q9Y5I4 PCDC2_HUMAN protocadherin alpha subfamily C, 2 isoform 1 145 Cadherin 1.|Extracellular (Potential). homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding ovary(2)|skin(2) 4 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) AACGACAACTCACCGCGTTTC 0.632 NA 8 29 0 0 0 0 PCDHB10 56126 broad.mit.edu 37 5 140572211 140572211 + Missense_Mutation SNP G G T TCGA-CR-7367-01A-11D-2012-08 TCGA-CR-7367-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b82e34db-7b0e-4bbd-bc42-ba063ac42409 b93dc36c-99c1-4b6d-88c1-97d65bad89d2 g.chr5:140572211G>T uc003lix.2 + 1 260 c.86G>T c.(85-87)GGG>GTG p.G29V NM_018930 NP_061753 Q9UN67 PCDBA_HUMAN protocadherin beta 10 precursor 29 Extracellular (Potential). calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to membrane|plasma membrane calcium ion binding ovary(1)|skin(1) 2 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) GCAGGTTCTGGGTTTGGACGT 0.502 NA 22 112 1.18e-14 2.07e-14 1 0 ARSI 340075 broad.mit.edu 37 5 149676799 149676799 + Missense_Mutation SNP C C T TCGA-CR-7367-01A-11D-2012-08 TCGA-CR-7367-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b82e34db-7b0e-4bbd-bc42-ba063ac42409 b93dc36c-99c1-4b6d-88c1-97d65bad89d2 g.chr5:149676799C>T uc003lrv.2 - 2 2277 c.1688G>A c.(1687-1689)AGG>AAG p.R563K NM_001012301 NP_001012301 Q5FYB1 ARSI_HUMAN arylsulfatase family, member I precursor 563 endoplasmic reticulum|extracellular region arylsulfatase activity|metal ion binding ovary(1)|pancreas(1) 2 KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) GGACATTAGCCTGGTGTTGAG 0.532 NA 16 95 0 0 0 0 HIST1H4F 8361 broad.mit.edu 37 6 26240858 26240858 + Missense_Mutation SNP G G T TCGA-CR-7367-01A-11D-2012-08 TCGA-CR-7367-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b82e34db-7b0e-4bbd-bc42-ba063ac42409 b93dc36c-99c1-4b6d-88c1-97d65bad89d2 g.chr6:26240858G>T uc003nhe.1 + 1 205 c.205G>T c.(205-207)GAC>TAC p.D69Y NM_003540 NP_003531 P62805 H4_HUMAN histone cluster 1, H4f 69 CenH3-containing nucleosome assembly at centromere|negative regulation of megakaryocyte differentiation|phosphatidylinositol-mediated signaling|telomere maintenance nucleoplasm|nucleosome DNA binding|protein binding 0 all_hematologic(11;0.0945)|Acute lymphoblastic leukemia(11;0.167) TGTGATACGGGACGCCGTAAC 0.587 NA 31 27 5.46e-16 9.66e-16 1 0 HIST1H3I 8354 broad.mit.edu 37 6 27840062 27840062 + Missense_Mutation SNP G G A TCGA-CR-7367-01A-11D-2012-08 TCGA-CR-7367-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b82e34db-7b0e-4bbd-bc42-ba063ac42409 b93dc36c-99c1-4b6d-88c1-97d65bad89d2 g.chr6:27840062G>A uc003njy.2 - 1 38 c.32C>T c.(31-33)TCC>TTC p.S11F NM_003533 NP_003524 P68431 H31_HUMAN histone cluster 1, H3i 11 blood coagulation|nucleosome assembly|regulation of gene silencing|S phase nucleoplasm|nucleosome DNA binding|protein binding ovary(1) 1 GCCGCCGGTGGACTTGCGAGC 0.587 NA 5 36 0 0 0 0 ITPR3 3710 broad.mit.edu 37 6 33653966 33653966 + Missense_Mutation SNP G G A TCGA-CR-7367-01A-11D-2012-08 TCGA-CR-7367-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b82e34db-7b0e-4bbd-bc42-ba063ac42409 b93dc36c-99c1-4b6d-88c1-97d65bad89d2 g.chr6:33653966G>A uc011drk.1 + 42 6023 c.5804G>A c.(5803-5805)GGC>GAC p.G1935D ITPR3_uc003oey.2_Missense_Mutation_p.G22D NM_002224 NP_002215 Q14573 ITPR3_HUMAN inositol 1,4,5-triphosphate receptor, type 3 1935 Cytoplasmic (Potential). activation of phospholipase C activity|calcium ion transport into cytosol|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|protein heterooligomerization|protein homooligomerization|regulation of insulin secretion|response to calcium ion apical part of cell|brush border|endoplasmic reticulum membrane|integral to plasma membrane|myelin sheath|neuronal cell body|nuclear outer membrane|platelet dense tubular network membrane inositol 1,3,4,5 tetrakisphosphate binding|inositol 1,4,5 trisphosphate binding|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|inositol hexakisphosphate binding|intracellular ligand-gated calcium channel activity|protein binding ovary(6)|lung(5)|central_nervous_system(5)|breast(2)|kidney(1) 19 GACAACGTGGGCCTCGTCATC 0.612 NA 6 22 0 0 0 0 DNAH8 1769 broad.mit.edu 37 6 38831662 38831662 + Silent SNP G G T TCGA-CR-7367-01A-11D-2012-08 TCGA-CR-7367-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b82e34db-7b0e-4bbd-bc42-ba063ac42409 b93dc36c-99c1-4b6d-88c1-97d65bad89d2 g.chr6:38831662G>T uc003ooe.1 + 43 6273 c.5673G>T c.(5671-5673)TCG>TCT p.S1891S NM_001371 NP_001362 dynein, axonemal, heavy polypeptide 8 skin(8)|ovary(7)|lung(2)|large_intestine(1)|central_nervous_system(1)|kidney(1)|pancreas(1) 21 TTGCACAGTCGGGTTCCTGGG 0.358 NA 10 51 0.00010058 0.000160599 1 0 ZNF318 24149 broad.mit.edu 37 6 43304974 43304974 + Missense_Mutation SNP C C T TCGA-CR-7367-01A-11D-2012-08 TCGA-CR-7367-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b82e34db-7b0e-4bbd-bc42-ba063ac42409 b93dc36c-99c1-4b6d-88c1-97d65bad89d2 g.chr6:43304974C>T uc003oux.2 - 10 6840 c.6762G>A c.(6760-6762)ATG>ATA p.M2254I ZNF318_uc003ouw.2_Intron NM_014345 NP_055160 Q5VUA4 ZN318_HUMAN zinc finger protein 318 2254 meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus nucleic acid binding|zinc ion binding ovary(3)|breast(2)|central_nervous_system(1)|skin(1) 7 Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579) CCTGAGGGACCATATTGTCTT 0.463 NA 15 30 0 0 0 0 DST 667 broad.mit.edu 37 6 56495121 56495121 + Silent SNP G G T TCGA-CR-7367-01A-11D-2012-08 TCGA-CR-7367-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b82e34db-7b0e-4bbd-bc42-ba063ac42409 b93dc36c-99c1-4b6d-88c1-97d65bad89d2 g.chr6:56495121G>T uc003pdf.2 - 30 4132 c.4104C>A c.(4102-4104)CTC>CTA p.L1368L DST_uc003pcz.3_Silent_p.L1190L|DST_uc011dxj.1_Silent_p.L1219L|DST_uc011dxk.1_Silent_p.L1230L|DST_uc003pcy.3_Silent_p.L864L|DST_uc003pdb.2_Silent_p.L864L|DST_uc003pdc.3_Silent_p.L864L|DST_uc003pdd.3_Silent_p.L864L NM_001144769 NP_001138241 Q03001 DYST_HUMAN dystonin isoform 2 1190 cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity ovary(7)|central_nervous_system(6)|upper_aerodigestive_tract(1) 14 Lung NSC(77;0.103) LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956) TAGTTTCATAGAGTTTTACGA 0.323 NA 14 73 0.000151284 0.000240251 1 0 FUT9 10690 broad.mit.edu 37 6 96651372 96651372 + Missense_Mutation SNP G G C TCGA-CR-7367-01A-11D-2012-08 TCGA-CR-7367-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b82e34db-7b0e-4bbd-bc42-ba063ac42409 b93dc36c-99c1-4b6d-88c1-97d65bad89d2 g.chr6:96651372G>C uc003pop.3 + 3 682 c.341G>C c.(340-342)AGT>ACT p.S114T NM_006581 NP_006572 Q9Y231 FUT9_HUMAN fucosyltransferase 9 (alpha (1,3) 114 Lumenal (Potential). L-fucose catabolic process|protein glycosylation Golgi cisterna membrane|integral to membrane alpha(1,3)-fucosyltransferase activity skin(4)|ovary(1) 5 all_cancers(76;4.77e-07)|Acute lymphoblastic leukemia(125;4.01e-09)|all_hematologic(75;1.25e-06)|all_epithelial(107;0.00279)|Colorectal(196;0.0356) BRCA - Breast invasive adenocarcinoma(108;0.08) CGAGACATCAGTTGGGATCTG 0.473 NA 6 54 0 0 0 0 SIM1 6492 broad.mit.edu 37 6 100895160 100895160 + Missense_Mutation SNP C C T TCGA-CR-7367-01A-11D-2012-08 TCGA-CR-7367-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b82e34db-7b0e-4bbd-bc42-ba063ac42409 b93dc36c-99c1-4b6d-88c1-97d65bad89d2 g.chr6:100895160C>T uc003pqj.3 - 8 1189 c.982G>A c.(982-984)GTC>ATC p.V328I SIM1_uc010kcu.2_Missense_Mutation_p.V328I NM_005068 NP_005059 P81133 SIM1_HUMAN single-minded homolog 1 328 PAC. cell differentiation|nervous system development nucleus DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity ovary(4) 4 all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13) BRCA - Breast invasive adenocarcinoma(108;0.0774) ACATAGTTGACGCTGACGATA 0.627 NA 4 31 0 0 0 0 TFB1M 51106 broad.mit.edu 37 6 155581464 155581464 + Missense_Mutation SNP T T C TCGA-CR-7367-01A-11D-2012-08 TCGA-CR-7367-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b82e34db-7b0e-4bbd-bc42-ba063ac42409 b93dc36c-99c1-4b6d-88c1-97d65bad89d2 g.chr6:155581464T>C uc003qqj.3 - 6 801 c.737A>G c.(736-738)GAA>GGA p.E246G TFB1M_uc003qqk.2_Intron NM_016020 NP_057104 Q8WVM0 TFB1M_HUMAN transcription factor B1, mitochondrial 246 regulation of transcription, DNA-dependent|transcription, DNA-dependent mitochondrial nucleoid DNA binding|protein binding|rRNA (adenine-N6,N6-)-dimethyltransferase activity skin(1) 1 Ovarian(120;0.196) OV - Ovarian serous cystadenocarcinoma(155;1.48e-12)|BRCA - Breast invasive adenocarcinoma(81;0.0131) AACCACTTTTTCCACCAGCTT 0.438 NA 3 37 0 0 0 0 RAC1 5879 broad.mit.edu 37 7 6441634 6441634 + Missense_Mutation SNP G G A TCGA-CR-7367-01A-11D-2012-08 TCGA-CR-7367-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b82e34db-7b0e-4bbd-bc42-ba063ac42409 b93dc36c-99c1-4b6d-88c1-97d65bad89d2 g.chr7:6441634G>A uc003spx.2 + 5 665 c.424G>A c.(424-426)GGT>AGT p.G142S RAC1_uc003spw.2_Missense_Mutation_p.G161S NM_006908 NP_008839 P63000 RAC1_HUMAN ras-related C3 botulinum toxin substrate 1 142 actin filament polymerization|apoptosis|axon guidance|cell motility|cell-matrix adhesion|induction of apoptosis by extracellular signals|inflammatory response|lamellipodium assembly|localization within membrane|negative regulation of interleukin-23 production|negative regulation of receptor-mediated endocytosis|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of lamellipodium assembly|positive regulation of Rho protein signal transduction|regulation of cell migration|regulation of defense response to virus by virus|regulation of hydrogen peroxide metabolic process|regulation of respiratory burst|ruffle organization|small GTPase mediated signal transduction|T cell costimulation|viral reproduction cytosol|melanosome|plasma membrane GTP binding|GTP-dependent protein binding|GTPase activity|thioesterase binding lung(2) 2 Ovarian(82;0.0776) UCEC - Uterine corpus endometrioid carcinoma (126;0.104) Pravastatin(DB00175)|Simvastatin(DB00641) CTATCCGCAGGGTCTAGCCAT 0.463 NA 5 154 0 0 0 0 THSD7A 221981 broad.mit.edu 37 7 11485699 11485699 + Missense_Mutation SNP C C A TCGA-CR-7367-01A-11D-2012-08 TCGA-CR-7367-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b82e34db-7b0e-4bbd-bc42-ba063ac42409 b93dc36c-99c1-4b6d-88c1-97d65bad89d2 g.chr7:11485699C>A uc003ssf.3 - 13 3305 c.3053G>T c.(3052-3054)TGT>TTT p.C1018F NM_015204 NP_056019 Q9UPZ6 THS7A_HUMAN thrombospondin, type I, domain containing 7A 1018 TSP type-1 10.|Extracellular (Potential). integral to membrane ovary(3) 3 UCEC - Uterine corpus endometrioid carcinoma (126;0.163) ATGGCTGTTACATCTAGATGT 0.423 NA HNSCC(18;0.044) 89 168 3.1e-51 5.71e-51 1 0 SEPT7 989 broad.mit.edu 37 7 35930338 35930338 + Silent SNP C C T TCGA-CR-7367-01A-11D-2012-08 TCGA-CR-7367-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b82e34db-7b0e-4bbd-bc42-ba063ac42409 b93dc36c-99c1-4b6d-88c1-97d65bad89d2 g.chr7:35930338C>T uc010kxc.2 + 10 1126 c.933C>T c.(931-933)AGC>AGT p.S311S SEPT7_uc011kat.1_Silent_p.S310S|SEPT7_uc011kau.1_Silent_p.S275S|SEPT7_uc011kav.1_Silent_p.S258S|SEPT7_uc003tey.2_Silent_p.S159S NM_001788 NP_001779 Q16181 SEPT7_HUMAN cell division cycle 10 isoform 1 311 cilium morphogenesis|cytokinesis|mitosis|protein heterooligomerization|regulation of embryonic cell shape cilium axoneme|cleavage furrow|condensed chromosome kinetochore|midbody|nucleus|septin complex|spindle|stress fiber GTP binding|protein binding|structural molecule activity 0 ACTACAGAAGCAGAAAACTTG 0.333 NA 4 34 0 0 0 0 VPS41 27072 broad.mit.edu 37 7 38765891 38765891 + Silent SNP A A C TCGA-CR-7367-01A-11D-2012-08 TCGA-CR-7367-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b82e34db-7b0e-4bbd-bc42-ba063ac42409 b93dc36c-99c1-4b6d-88c1-97d65bad89d2 g.chr7:38765891A>C uc003tgy.2 - 29 2546 c.2520T>G c.(2518-2520)GCT>GCG p.A840A VPS41_uc003tgz.2_Silent_p.A815A|VPS41_uc010kxn.2_Silent_p.A751A|VPS41_uc003tgx.2_RNA NM_014396 NP_055211 P49754 VPS41_HUMAN vacuolar protein sorting 41 isoform 1 840 Golgi vesicle transport|intracellular protein transport|vesicle-mediated transport cytosol|Golgi-associated vesicle|HOPS complex|membrane fraction zinc ion binding skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1) 4 CACGGTTCTTAGCACTGCAGA 0.363 NA 17 24 0 0 0 0 POM121L12 285877 broad.mit.edu 37 7 53104113 53104113 + Missense_Mutation SNP A A T TCGA-CR-7367-01A-11D-2012-08 TCGA-CR-7367-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b82e34db-7b0e-4bbd-bc42-ba063ac42409 b93dc36c-99c1-4b6d-88c1-97d65bad89d2 g.chr7:53104113A>T uc003tpz.2 + 1 765 c.749A>T c.(748-750)GAT>GTT p.D250V NM_182595 NP_872401 Q8N7R1 P1L12_HUMAN POM121 membrane glycoprotein-like 12 250 0 TTTTGTGATGATGCTTGGCCT 0.627 NA 19 97 0 0 0 0 ZNF117 51351 broad.mit.edu 37 7 64438853 64438853 + Missense_Mutation SNP A A T TCGA-CR-7367-01A-11D-2012-08 TCGA-CR-7367-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b82e34db-7b0e-4bbd-bc42-ba063ac42409 b93dc36c-99c1-4b6d-88c1-97d65bad89d2 g.chr7:64438853A>T uc003ttr.2 - 4 2381 c.1096T>A c.(1096-1098)TGT>AGT p.C366S NM_015852 NP_056936 Q03924 ZN117_HUMAN zinc finger protein 117 366 C2H2-type 10. nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding skin(1) 1 Lung NSC(55;0.0295)|all_lung(88;0.0691) GCTTTGCCACATTCTCCACAT 0.398 NA 11 65 0 0 0 0 GRM3 2913 broad.mit.edu 37 7 86416016 86416016 + Nonsense_Mutation SNP G G A TCGA-CR-7367-01A-11D-2012-08 TCGA-CR-7367-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b82e34db-7b0e-4bbd-bc42-ba063ac42409 b93dc36c-99c1-4b6d-88c1-97d65bad89d2 g.chr7:86416016G>A uc003uid.2 + 3 2007 c.908G>A c.(907-909)TGG>TAG p.W303* GRM3_uc010lef.2_Nonsense_Mutation_p.W301*|GRM3_uc010leg.2_Nonsense_Mutation_p.W175*|GRM3_uc010leh.2_Intron NM_000840 NP_000831 Q14832 GRM3_HUMAN glutamate receptor, metabotropic 3 precursor 303 Extracellular (Potential). synaptic transmission integral to plasma membrane lung(4)|ovary(3)|central_nervous_system(2)|skin(2)|haematopoietic_and_lymphoid_tissue(1)|prostate(1) 13 Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142) Acamprosate(DB00659)|Nicotine(DB00184) AGCGACGGCTGGGGCGCGCAG 0.687 NA 9 38 0 0 0 0 GNG11 2791 broad.mit.edu 37 7 93555441 93555441 + Missense_Mutation SNP A A T TCGA-CR-7367-01A-11D-2012-08 TCGA-CR-7367-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b82e34db-7b0e-4bbd-bc42-ba063ac42409 b93dc36c-99c1-4b6d-88c1-97d65bad89d2 g.chr7:93555441A>T uc003und.2 + 2 569 c.135A>T c.(133-135)GAA>GAT p.E45D NM_004126 NP_004117 P61952 GBG11_HUMAN guanine nucleotide binding protein gamma 11 45 cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway heterotrimeric G-protein complex GTPase activity|signal transducer activity kidney(1) 1 all_cancers(62;2.39e-10)|all_epithelial(64;1.54e-09)|Lung NSC(181;0.218) STAD - Stomach adenocarcinoma(171;0.000967) ACTATATTGAAGAACGTTCTG 0.348 NA 22 81 0 0 0 0 EXOC4 60412 broad.mit.edu 37 7 133160110 133160110 + Missense_Mutation SNP A A T TCGA-CR-7367-01A-11D-2012-08 TCGA-CR-7367-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b82e34db-7b0e-4bbd-bc42-ba063ac42409 b93dc36c-99c1-4b6d-88c1-97d65bad89d2 g.chr7:133160110A>T uc003vrk.2 + 8 1246 c.1211A>T c.(1210-1212)AAA>ATA p.K404I EXOC4_uc011kpo.1_Missense_Mutation_p.K303I|EXOC4_uc003vri.2_Missense_Mutation_p.K404I|EXOC4_uc003vrj.2_Missense_Mutation_p.K404I NM_021807 NP_068579 Q96A65 EXOC4_HUMAN SEC8 protein isoform a 404 vesicle docking involved in exocytosis exocyst protein N-terminus binding ovary(4)|large_intestine(3)|upper_aerodigestive_tract(1)|skin(1) 9 Esophageal squamous(399;0.129) TTGGATATGAAAAATACTCGT 0.363 NA 10 99 0 0 0 0 KIAA1549 57670 broad.mit.edu 37 7 138583773 138583773 + Silent SNP G G A TCGA-CR-7367-01A-11D-2012-08 TCGA-CR-7367-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b82e34db-7b0e-4bbd-bc42-ba063ac42409 b93dc36c-99c1-4b6d-88c1-97d65bad89d2 g.chr7:138583773G>A uc011kql.1 - 9 3824 c.3775C>T c.(3775-3777)CTG>TTG p.L1259L KIAA1549_uc011kqi.1_Silent_p.L43L|KIAA1549_uc003vuk.3_Silent_p.L1209L|KIAA1549_uc011kqj.1_Silent_p.L1259L|KIAA1549_uc011kqk.1_Silent_p.L43L NM_020910 NP_065961 Q9HCM3 K1549_HUMAN hypothetical protein LOC57670 isoform 1 1259 integral to membrane KIAA1549/BRAF(229) central_nervous_system(229)|pancreas(1) 230 TTGTTAATCAGGTCCGAAGAC 0.493 NA O BRAF pilocytic astrocytoma 15 133 0 0 0 0 TBXAS1 6916 broad.mit.edu 37 7 139715537 139715537 + Missense_Mutation SNP C C A TCGA-CR-7367-01A-11D-2012-08 TCGA-CR-7367-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b82e34db-7b0e-4bbd-bc42-ba063ac42409 b93dc36c-99c1-4b6d-88c1-97d65bad89d2 g.chr7:139715537C>A uc011kqv.1 + 12 1546 c.1382C>A c.(1381-1383)GCA>GAA p.A461E TBXAS1_uc003vvh.2_Missense_Mutation_p.A415E|TBXAS1_uc010lne.2_Missense_Mutation_p.A347E|TBXAS1_uc011kqu.1_Missense_Mutation_p.A366E|TBXAS1_uc003vvi.2_Missense_Mutation_p.A415E|TBXAS1_uc003vvj.2_Missense_Mutation_p.A415E|TBXAS1_uc011kqw.1_Missense_Mutation_p.A395E NM_001130966 NP_001124438 P24557 THAS_HUMAN thromboxane A synthase 1, platelet isoform 414 Cytoplasmic (Potential). hormone biosynthetic process|prostaglandin biosynthetic process|xenobiotic metabolic process endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|thromboxane-A synthase activity ovary(2)|breast(1) 3 Melanoma(164;0.0142) ACACGGGAGGCAGCTCAGGAC 0.642 NA 8 80 0.000274275 0.000428601 1 0 PARP12 64761 broad.mit.edu 37 7 139724438 139724438 + Silent SNP C C T TCGA-CR-7367-01A-11D-2012-08 TCGA-CR-7367-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b82e34db-7b0e-4bbd-bc42-ba063ac42409 b93dc36c-99c1-4b6d-88c1-97d65bad89d2 g.chr7:139724438C>T uc003vvl.1 - 12 2902 c.2028G>A c.(2026-2028)CAG>CAA p.Q676Q PARP12_uc003vvk.1_Silent_p.Q462Q|PARP12_uc010lnf.1_RNA NM_022750 NP_073587 Q9H0J9 PAR12_HUMAN poly ADP-ribose polymerase 12 676 PARP catalytic. nucleus NAD+ ADP-ribosyltransferase activity|nucleic acid binding|zinc ion binding ovary(3) 3 Melanoma(164;0.0142) AGGTGGTGTACTGGATGACAT 0.572 NA 10 52 0 0 0 0 TRPV5 56302 broad.mit.edu 37 7 142612693 142612693 + Silent SNP G G A TCGA-CR-7367-01A-11D-2012-08 TCGA-CR-7367-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b82e34db-7b0e-4bbd-bc42-ba063ac42409 b93dc36c-99c1-4b6d-88c1-97d65bad89d2 g.chr7:142612693G>A uc003wby.1 - 9 1432 c.1168C>T c.(1168-1170)CTG>TTG p.L390L NM_019841 NP_062815 Q9NQA5 TRPV5_HUMAN transient receptor potential cation channel, 390 Helical; (Potential). protein tetramerization apical plasma membrane|integral to plasma membrane calcium channel activity ovary(3)|central_nervous_system(2)|skin(1) 6 Melanoma(164;0.059) ATGCTCACCAGCTCCCCCACC 0.547 NA 5 40 0 0 0 0 PAXIP1 22976 broad.mit.edu 37 7 154738231 154738231 + Silent SNP T T G TCGA-CR-7367-01A-11D-2012-08 TCGA-CR-7367-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b82e34db-7b0e-4bbd-bc42-ba063ac42409 b93dc36c-99c1-4b6d-88c1-97d65bad89d2 g.chr7:154738231T>G uc003wlp.2 - 19 3167 c.3124A>C c.(3124-3126)AGA>CGA p.R1042R LOC100132707_uc011kvr.1_Intron|LOC100132707_uc003wlo.2_Intron|PAXIP1_uc003wlq.1_Silent_p.R1008R|PAXIP1_uc011kvs.1_Silent_p.R1006R NM_007349 NP_031375 Q6ZW49 PAXI1_HUMAN PAX interacting protein 1 1042 Interaction with TP53BP1.|BRCT 6. DNA damage response, signal transduction by p53 class mediator|DNA recombination|DNA repair|histone H3-K4 methylation|positive regulation of histone acetylation|positive regulation of histone H3-K36 methylation|positive regulation of histone H3-K4 methylation|positive regulation of isotype switching|positive regulation of protein ubiquitination|positive regulation of transcription initiation from RNA polymerase II promoter|response to ionizing radiation|transcription, DNA-dependent histone methyltransferase complex|nuclear matrix lung(2)|ovary(1)|breast(1)|pancreas(1) 5 all_neural(206;0.119) all_hematologic(28;0.0592) OV - Ovarian serous cystadenocarcinoma(82;0.0296) UCEC - Uterine corpus endometrioid carcinoma (81;0.178) CCTATGCCTCTGGCAAAATAT 0.413 NA 3 46 0 0 0 0 WRN 7486 broad.mit.edu 37 8 30977861 30977861 + Nonsense_Mutation SNP G G T TCGA-CR-7367-01A-11D-2012-08 TCGA-CR-7367-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b82e34db-7b0e-4bbd-bc42-ba063ac42409 b93dc36c-99c1-4b6d-88c1-97d65bad89d2 g.chr8:30977861G>T uc003xio.3 + 21 3339 c.2551G>T c.(2551-2553)GAG>TAG p.E851* WRN_uc010lvk.2_Nonsense_Mutation_p.E318* NM_000553 NP_000544 Q14191 WRN_HUMAN Werner syndrome protein 851 Helicase C-terminal. base-excision repair|cellular response to starvation|DNA recombination|DNA synthesis involved in DNA repair|multicellular organismal aging|nucleolus to nucleoplasm transport|positive regulation of hydrolase activity|regulation of apoptosis|replication fork processing|response to oxidative stress|response to UV-C|telomere maintenance centrosome|nucleolus|nucleoplasm 3'-5' exonuclease activity|ATP binding|ATP-dependent 3'-5' DNA helicase activity|bubble DNA binding|four-way junction helicase activity|G-quadruplex DNA binding|magnesium ion binding|manganese ion binding|protein complex binding|protein homodimerization activity|Y-form DNA binding ovary(2)|kidney(2)|large_intestine(1)|lung(1)|skin(1) 7 Breast(100;0.195) KIRC - Kidney renal clear cell carcinoma(542;0.147)|Kidney(114;0.176)|Colorectal(111;0.192) ATATTATCAGGAGATTGGTAG 0.393 NA Mis|N|F|S osteosarcoma|meningioma|others Genes_defective_in_diseases_associated_with_sensitivity_to_DNA_damaging_agents Werner_syndrome 18 102 3.41e-10 5.83e-10 1 0 PXDNL 137902 broad.mit.edu 37 8 52284568 52284569 + Missense_Mutation DNP CC CC AA TCGA-CR-7367-01A-11D-2012-08 TCGA-CR-7367-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b82e34db-7b0e-4bbd-bc42-ba063ac42409 b93dc36c-99c1-4b6d-88c1-97d65bad89d2 g.chr8:52284568_52284569CC>AA uc003xqu.3 - 19 3866_3867 c.3765_3766GG>TT c.(3763-3768)CGGGTG>CGTTTG p.V1256L PXDNL_uc003xqt.3_RNA NM_144651 NP_653252 A1KZ92 PXDNL_HUMAN peroxidasin homolog-like precursor 1256 hydrogen peroxide catabolic process extracellular space heme binding|peroxidase activity ovary(1)|pancreas(1) 2 all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015) TCACAAAGCACCCGGCTCAGGG 0.49 NA 18 17 0 0 0 0 SLC26A7 115111 broad.mit.edu 37 8 92401664 92401664 + Missense_Mutation SNP G G A TCGA-CR-7367-01A-11D-2012-08 TCGA-CR-7367-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b82e34db-7b0e-4bbd-bc42-ba063ac42409 b93dc36c-99c1-4b6d-88c1-97d65bad89d2 g.chr8:92401664G>A uc003yex.2 + 17 2052 c.1774G>A c.(1774-1776)GAG>AAG p.E592K SLC26A7_uc003yey.2_RNA|SLC26A7_uc003yez.2_Missense_Mutation_p.E592K|SLC26A7_uc003yfa.2_Missense_Mutation_p.E592K NM_052832 NP_439897 Q8TE54 S26A7_HUMAN solute carrier family 26, member 7 isoform a 592 STAS.|Cytoplasmic (Potential). 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) CATGCTTGTTGAGGTATTTAT 0.413 NA 57 107 0 0 0 0 CSMD3 114788 broad.mit.edu 37 8 113241018 113241018 + Missense_Mutation SNP A A G TCGA-CR-7367-01A-11D-2012-08 TCGA-CR-7367-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b82e34db-7b0e-4bbd-bc42-ba063ac42409 b93dc36c-99c1-4b6d-88c1-97d65bad89d2 g.chr8:113241018A>G uc003ynu.2 - 70 11090 c.10931T>C c.(10930-10932)TTT>TCT p.F3644S CSMD3_uc003yns.2_Missense_Mutation_p.F2846S|CSMD3_uc003ynt.2_Missense_Mutation_p.F3604S|CSMD3_uc011lhx.1_Missense_Mutation_p.F3475S NM_198123 NP_937756 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 isoform 1 3644 Helical; (Potential). integral to membrane|plasma membrane ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1) 63 AAATCCTGCAAATATAAGTGC 0.313 NA HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 38 34 0 0 0 0 EIF2C2 27161 broad.mit.edu 37 8 141570572 141570572 + Missense_Mutation SNP C C T TCGA-CR-7367-01A-11D-2012-08 TCGA-CR-7367-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b82e34db-7b0e-4bbd-bc42-ba063ac42409 b93dc36c-99c1-4b6d-88c1-97d65bad89d2 g.chr8:141570572C>T uc003yvn.2 - 5 596 c.556G>A c.(556-558)GAA>AAA p.E186K EIF2C2_uc010men.2_Missense_Mutation_p.E109K|EIF2C2_uc010meo.2_Missense_Mutation_p.E186K NM_012154 NP_036286 Q9UKV8 AGO2_HUMAN argonaute 2 isoform 1 186 mRNA cleavage involved in gene silencing by miRNA|negative regulation of translation involved in gene silencing by miRNA|negative regulation of translational initiation|pre-miRNA processing|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasmic mRNA processing body|cytosol|micro-ribonucleoprotein complex|mRNA cap binding complex|nucleus|polysome|RNA-induced silencing complex endoribonuclease activity, cleaving siRNA-paired mRNA|metal ion binding|protein binding|RNA 7-methylguanosine cap binding|siRNA binding|translation initiation factor activity 0 all_cancers(97;2.54e-14)|all_epithelial(106;5.99e-13)|Lung NSC(106;1.45e-05)|all_lung(105;2.07e-05)|Ovarian(258;0.0154)|Acute lymphoblastic leukemia(118;0.155) Breast(495;0.159) BRCA - Breast invasive adenocarcinoma(115;0.158) GAGCAGCCTTCGGACGCGGTG 0.597 NA 46 78 0 0 0 0 SLC46A2 57864 broad.mit.edu 37 9 115652267 115652267 + Missense_Mutation SNP G G A rs140881150 TCGA-CR-7367-01A-11D-2012-08 TCGA-CR-7367-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b82e34db-7b0e-4bbd-bc42-ba063ac42409 b93dc36c-99c1-4b6d-88c1-97d65bad89d2 g.chr9:115652267G>A uc004bgk.2 - 1 927 c.695C>T c.(694-696)TCG>TTG p.S232L NM_033051 NP_149040 Q9BY10 TSCOT_HUMAN solute carrier family 46, member 2 232 Cytoplasmic (Potential). integral to membrane|plasma membrane symporter activity central_nervous_system(1) 1 TTTGGCCACCGACTCAGGGAC 0.607 NA 13 41 0 0 0 0 ASTN2 23245 broad.mit.edu 37 9 119976974 119976974 + Silent SNP C C A TCGA-CR-7367-01A-11D-2012-08 TCGA-CR-7367-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b82e34db-7b0e-4bbd-bc42-ba063ac42409 b93dc36c-99c1-4b6d-88c1-97d65bad89d2 g.chr9:119976974C>A uc004bjs.1 - 3 779 c.678G>T c.(676-678)GCG>GCT p.A226A ASTN2_uc004bjr.1_Silent_p.A226A|ASTN2_uc004bjt.1_Silent_p.A226A NM_198187 NP_937830 O75129 ASTN2_HUMAN astrotactin 2 isoform c 226 Helical; (Potential). integral to membrane skin(4)|ovary(3)|breast(1)|kidney(1) 9 GGGCGTACAGCGCCACGGTGA 0.602 NA 25 29 4.78e-09 8.12e-09 1 0 UCK1 83549 broad.mit.edu 37 9 134404963 134404963 + Missense_Mutation SNP C C G TCGA-CR-7367-01A-11D-2012-08 TCGA-CR-7367-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b82e34db-7b0e-4bbd-bc42-ba063ac42409 b93dc36c-99c1-4b6d-88c1-97d65bad89d2 g.chr9:134404963C>G uc004cay.2 - 3 378 c.277G>C c.(277-279)GAT>CAT p.D93H UCK1_uc010mzk.2_Missense_Mutation_p.D84H|UCK1_uc004cba.2_Missense_Mutation_p.D93H|UCK1_uc004caz.2_RNA NM_031432 NP_113620 Q9HA47 UCK1_HUMAN uridine-cytidine kinase 1 isoform a 93 pyrimidine base metabolic process|pyrimidine nucleoside salvage cytosol ATP binding|phosphotransferase activity, alcohol group as acceptor|uridine kinase activity 0 OV - Ovarian serous cystadenocarcinoma(145;2.34e-05)|Epithelial(140;0.000219) AAATCATTATCAAAGGCATCT 0.547 NA 17 91 0 0 0 0 WDR5 11091 broad.mit.edu 37 9 137017113 137017113 + Nonsense_Mutation SNP G G A TCGA-CR-7367-01A-11D-2012-08 TCGA-CR-7367-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b82e34db-7b0e-4bbd-bc42-ba063ac42409 b93dc36c-99c1-4b6d-88c1-97d65bad89d2 g.chr9:137017113G>A uc004cey.2 + 9 764 c.593G>A c.(592-594)TGG>TAG p.W198* WDR5_uc004cez.2_Nonsense_Mutation_p.W198* NM_017588 NP_060058 P61964 WDR5_HUMAN WD repeat domain 5 198 WD 4. histone H3 acetylation|histone H3-K4 methylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent Ada2/Gcn5/Ada3 transcription activator complex|MLL1 complex|Set1C/COMPASS complex protein binding 0 Myeloproliferative disorder(178;0.0255)|Medulloblastoma(224;0.123) Epithelial(140;6.61e-13)|all cancers(34;5.66e-12)|OV - Ovarian serous cystadenocarcinoma(145;3.93e-08)|GBM - Glioblastoma multiforme(294;0.00326)|READ - Rectum adenocarcinoma(205;0.154) AGTCGCATCTGGGACACCGCC 0.557 NA 17 160 0 0 0 0 AKAP4 8852 broad.mit.edu 37 X 49957554 49957554 + Missense_Mutation SNP G G A TCGA-CR-7367-01A-11D-2012-08 TCGA-CR-7367-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b82e34db-7b0e-4bbd-bc42-ba063ac42409 b93dc36c-99c1-4b6d-88c1-97d65bad89d2 g.chrX:49957554G>A uc004dow.1 - 5 1934 c.1810C>T c.(1810-1812)CAC>TAC p.H604Y AKAP4_uc004dov.1_Missense_Mutation_p.H221Y|AKAP4_uc010njp.1_Missense_Mutation_p.H426Y|AKAP4_uc004dou.1_Missense_Mutation_p.H595Y NM_003886 NP_003877 Q5JQC9 AKAP4_HUMAN A-kinase anchor protein 4 isoform 1 604 cell projection organization|single fertilization|sperm motility cAMP-dependent protein kinase complex|cilium|cytoskeleton|microtubule-based flagellum protein kinase A binding kidney(3)|central_nervous_system(2)|ovary(1)|lung(1)|skin(1) 8 Ovarian(276;0.236) GGGGCTCTGTGAGATTCTAGT 0.458 NA 18 27 0 0 0 0 H2BFWT 158983 broad.mit.edu 37 X 103268089 103268089 + Silent SNP T T C TCGA-CR-7367-01A-11D-2012-08 TCGA-CR-7367-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b82e34db-7b0e-4bbd-bc42-ba063ac42409 b93dc36c-99c1-4b6d-88c1-97d65bad89d2 g.chrX:103268089T>C uc004elr.2 - 1 168 c.144A>G c.(142-144)AAA>AAG p.K48K NM_001002916 NP_001002916 Q7Z2G1 H2BWT_HUMAN H2B histone family, member W, testis-specific 48 nucleosome assembly nuclear membrane|nucleosome DNA binding ovary(1) 1 AGTTGGCCTCTTTGGGCTCCT 0.627 NA 7 10 0 0 0 0 HNRNPR 10236 broad.mit.edu 37 1 23637236 23637241 + In_Frame_Del DEL GGTCCC GGTCCC - TCGA-CR-7367-01A-11D-2012-08 TCGA-CR-7367-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b82e34db-7b0e-4bbd-bc42-ba063ac42409 b93dc36c-99c1-4b6d-88c1-97d65bad89d2 g.chr1:23637236_23637241delGGTCCC uc001bgr.3 - 11 1767_1772 c.1608_1613delGGGACC c.(1606-1614)TTGGGACCA>TTA p.GP537del HNRNPR_uc001bgo.2_In_Frame_Del_p.GP147del|HNRNPR_uc001bgp.3_In_Frame_Del_p.GP540del|HNRNPR_uc009vqk.2_In_Frame_Del_p.GP439del|HNRNPR_uc001bgs.3_In_Frame_Del_p.GP436del|HNRNPR_uc010odw.1_In_Frame_Del_p.GP499del|HNRNPR_uc010odx.1_In_Frame_Del_p.GP377del|HNRNPR_uc009vql.2_In_Frame_Del_p.GP398del NM_005826 NP_005817 O43390 HNRPR_HUMAN heterogeneous nuclear ribonucleoprotein R 537_538 RNA-binding RGG-box. catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm nucleotide binding|protein binding|RNA binding upper_aerodigestive_tract(1)|skin(1) 2 Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Breast(348;0.00394)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;6.83e-27)|Colorectal(126;6.01e-08)|COAD - Colon adenocarcinoma(152;3.32e-06)|GBM - Glioblastoma multiforme(114;6.69e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|KIRC - Kidney renal clear cell carcinoma(1967;0.00357)|STAD - Stomach adenocarcinoma(196;0.0131)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0875)|LUSC - Lung squamous cell carcinoma(448;0.19) GCCTCTTGGTGGTCCCAAAGGTGCCC 0.568 NA 14 75 --- --- --- --- NA NA NA NA B3GAT3 26229 broad.mit.edu 37 11 62388037 62388038 + Frame_Shift_Ins INS - - G TCGA-CR-7367-01A-11D-2012-08 TCGA-CR-7367-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b82e34db-7b0e-4bbd-bc42-ba063ac42409 b93dc36c-99c1-4b6d-88c1-97d65bad89d2 g.chr11:62388037_62388038insG uc001ntw.2 - 2 217_218 c.188_189insC c.(187-189)CCTfs p.P63fs B3GAT3_uc009ynz.2_Frame_Shift_Ins_p.P56fs|B3GAT3_uc001ntx.2_RNA|B3GAT3_uc010rlz.1_Frame_Shift_Ins_p.P63fs NM_012200 NP_036332 O94766 B3GA3_HUMAN beta-1,3-glucuronyltransferase 3 63 Lumenal (Potential). glycosaminoglycan biosynthetic process Golgi membrane|integral to membrane galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase activity|manganese ion binding 0 GGGCAGGGGCAGGGGGTGGCCG 0.634 NA 7 44 --- --- --- --- NA NA NA NA EMG1 10436 broad.mit.edu 37 12 7080212 7080213 + Splice_Site INS - - C rs17857448 TCGA-CR-7367-01A-11D-2012-08 TCGA-CR-7367-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b82e34db-7b0e-4bbd-bc42-ba063ac42409 b93dc36c-99c1-4b6d-88c1-97d65bad89d2 g.chr12:7080212_7080213insC uc001qsh.3 + 2 272 c.129_splice c.e2+1 p.L43_splice PHB2_uc001qsd.2_5'Flank|PHB2_uc010sft.1_5'Flank|PHB2_uc010sfu.1_5'Flank|EMG1_uc009zfo.2_RNA|EMG1_uc010sfv.1_RNA NM_006331 NP_006322 Q92979 NEP1_HUMAN ribosome biogenesis protein NEP1 ribosomal small subunit biogenesis cytoplasm|nucleolus rRNA (pseudouridine) methyltransferase activity|rRNA binding 0 GAGGCCGTAGTTTATTGTGGTG 0.569 NA 7 28 --- --- --- --- NA NA NA NA SLFN5 162394 broad.mit.edu 37 17 33592632 33592633 + Frame_Shift_Ins INS - - A TCGA-CR-7367-01A-11D-2012-08 TCGA-CR-7367-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b82e34db-7b0e-4bbd-bc42-ba063ac42409 b93dc36c-99c1-4b6d-88c1-97d65bad89d2 g.chr17:33592632_33592633insA uc002hjf.3 + 5 2518_2519 c.2401_2402insA c.(2401-2403)GAAfs p.E801fs SLFN5_uc010wcg.1_3'UTR NM_144975 NP_659412 Q08AF3 SLFN5_HUMAN schlafen family member 5 801 cell differentiation ATP binding ovary(1)|central_nervous_system(1)|skin(1) 3 Ovarian(249;0.17) UCEC - Uterine corpus endometrioid carcinoma (308;0.0191) AAGTGAAGTGGAAAAATATAAA 0.426 NA 16 72 --- --- --- --- NA NA NA NA C19orf2 8725 broad.mit.edu 37 19 30433493 30433494 + Frame_Shift_Ins INS - - C TCGA-CR-7367-01A-11D-2012-08 TCGA-CR-7367-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b82e34db-7b0e-4bbd-bc42-ba063ac42409 b93dc36c-99c1-4b6d-88c1-97d65bad89d2 g.chr19:30433493_30433494insC uc002nsr.2 + 1 69_70 c.39_40insC c.(37-42)TCGCCCfs p.S13fs C19orf2_uc002nsq.2_Intron|C19orf2_uc002nss.2_5'UTR NM_003796 NP_003787 O94763 RMP_HUMAN RPB5-mediating protein isoform a 13_14 protein folding|regulation of transcription from RNA polymerase II promoter|response to virus DNA-directed RNA polymerase II, core complex|prefoldin complex transcription corepressor activity|unfolded protein binding ovary(1)|kidney(1) 2 Ovarian(5;0.000902)|Breast(6;0.0203)|Esophageal squamous(110;0.195) Hepatocellular(1079;0.137)|Renal(1328;0.228) STAD - Stomach adenocarcinoma(5;5.36e-06)|Lung(7;0.0144)|LUAD - Lung adenocarcinoma(5;0.115) STAD - Stomach adenocarcinoma(1328;0.18) CCGACCCCTCGCCCCCTTCGGC 0.762 NA 3 6 --- --- --- --- NA NA NA NA TBC1D14 57533 broad.mit.edu 37 4 7026838 7026848 + Frame_Shift_Del DEL TCCTGAAGCTG TCCTGAAGCTG - TCGA-CR-7367-01A-11D-2012-08 TCGA-CR-7367-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b82e34db-7b0e-4bbd-bc42-ba063ac42409 b93dc36c-99c1-4b6d-88c1-97d65bad89d2 g.chr4:7026838_7026848delTCCTGAAGCTG uc011bwg.1 + 13 1944_1954 c.1865_1875delTCCTGAAGCTG c.(1864-1875)ATCCTGAAGCTGfs p.I622fs TBC1D14_uc003gjs.3_Frame_Shift_Del_p.I622fs|TBC1D14_uc010idh.2_Frame_Shift_Del_p.I342fs|TBC1D14_uc011bwh.1_Frame_Shift_Del_p.I269fs|TBC1D14_uc003gju.3_Frame_Shift_Del_p.I113fs NM_001113361 NP_001106832 Q9P2M4 TBC14_HUMAN TBC1 domain family, member 14 isoform a 622_625 intracellular Rab GTPase activator activity ovary(1)|pancreas(1) 2 GCCCTGGGCATCCTGAAGCTGTTCGAGGACA 0.588 NA 19 88 --- --- --- --- NA NA NA NA CADPS2 93664 broad.mit.edu 37 7 122153341 122153341 + Frame_Shift_Del DEL A A - TCGA-CR-7367-01A-11D-2012-08 TCGA-CR-7367-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b82e34db-7b0e-4bbd-bc42-ba063ac42409 b93dc36c-99c1-4b6d-88c1-97d65bad89d2 g.chr7:122153341delA uc010lkp.2 - 9 1667 c.1504delT c.(1504-1506)TGGfs p.W502fs CADPS2_uc003vkg.3_Frame_Shift_Del_p.W202fs|CADPS2_uc010lkq.2_Frame_Shift_Del_p.W502fs NM_017954 NP_060424 Q86UW7 CAPS2_HUMAN Ca2+-dependent activator protein for secretion 2 502 PH. exocytosis|protein transport cell junction|cytoplasmic vesicle membrane|synapse lipid binding|metal ion binding ovary(1)|central_nervous_system(1) 2 CATCTTTTCCAAACCTTCTGT 0.313 NA 2 4 --- --- --- --- NA NA NA NA KDM5C 8242 broad.mit.edu 37 X 53240037 53240038 + Frame_Shift_Ins INS - - A TCGA-CR-7367-01A-11D-2012-08 TCGA-CR-7367-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b82e34db-7b0e-4bbd-bc42-ba063ac42409 b93dc36c-99c1-4b6d-88c1-97d65bad89d2 g.chrX:53240037_53240038insA uc004drz.2 - 11 1936_1937 c.1403_1404insT c.(1402-1404)GAGfs p.E468fs KDM5C_uc011moc.1_RNA|KDM5C_uc011mod.1_Frame_Shift_Ins_p.E401fs|KDM5C_uc004dsa.2_Frame_Shift_Ins_p.E467fs NM_004187 NP_004178 P41229 KDM5C_HUMAN jumonji, AT rich interactive domain 1C isoform 468 JmjC. chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding kidney(9)|ovary(5)|salivary_gland(1)|autonomic_ganglia(1)|haematopoietic_and_lymphoid_tissue(1)|oesophagus(1) 18 TGGTAGCATACTCCTGCCAGGT 0.455 NA N|F|S clear cell renal carcinoma 17 33 --- --- --- --- NA NA NA NA