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 WDR8 49856 broad.mit.edu 37 1 3553603 3553603 + Missense_Mutation SNP C C T TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chr1:3553603C>T uc001ako.2 - 5 580 c.472G>A c.(472-474)GAT>AAT p.D158N WDR8_uc001akn.3_Missense_Mutation_p.D158N|WDR8_uc010nzi.1_Missense_Mutation_p.D158N NM_017818 NP_060288 Q9P2S5 WRP73_HUMAN WD repeat domain 8 158 centrosome protein binding 0 all_cancers(77;0.0128)|all_epithelial(69;0.00526)|Ovarian(185;0.0634)|Lung NSC(156;0.162)|all_lung(157;0.172) all_epithelial(116;7.37e-22)|all_lung(118;8.23e-09)|Lung NSC(185;3.55e-06)|Breast(487;0.000659)|Renal(390;0.00121)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Lung SC(97;0.0262)|Ovarian(437;0.0308)|Medulloblastoma(700;0.211) Epithelial(90;4.11e-38)|OV - Ovarian serous cystadenocarcinoma(86;4.16e-22)|GBM - Glioblastoma multiforme(42;1.05e-14)|Colorectal(212;1.19e-05)|BRCA - Breast invasive adenocarcinoma(365;2.67e-05)|COAD - Colon adenocarcinoma(227;5.82e-05)|Kidney(185;0.000364)|KIRC - Kidney renal clear cell carcinoma(229;0.00223)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.203) CTCACGTAATCTTTGCAGTCG 0.567000 TAS1R1 80835 broad.mit.edu 37 1 6631246 6631246 + Missense_Mutation SNP G G A rs139619592 TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chr1:6631246G>A uc001ant.2 + 2 469 c.469G>A c.(469-471)GCC>ACC p.A157T TAS1R1_uc001anu.2_Missense_Mutation_p.A157T|TAS1R1_uc001anv.2_Missense_Mutation_p.A157T|TAS1R1_uc001anw.2_Missense_Mutation_p.A157T NM_138697 NP_619642 Q7RTX1 TS1R1_HUMAN sweet taste receptor T1r isoform b 157 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) CACCACAGCCGCCCTGCTGAG 0.607000 MIIP 60672 broad.mit.edu 37 1 12091346 12091346 + Missense_Mutation SNP T T G TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chr1:12091346T>G uc001ato.1 + 9 1146 c.966T>G c.(964-966)ATT>ATG p.I322M NM_021933 NP_068752 Q5JXC2 MIIP_HUMAN invasion inhibitory protein 45 322 ovary(1) 1 GCTGGGACATTTTTCCTCCGA 0.612000 VPS13D 55187 broad.mit.edu 37 1 12336474 12336474 + Silent SNP G G A TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chr1:12336474G>A uc001atv.2 + 19 2970 c.2829G>A c.(2827-2829)CAG>CAA p.Q943Q VPS13D_uc001atw.2_Silent_p.Q943Q|VPS13D_uc001atx.2_Silent_p.Q131Q NM_015378 NP_056193 Q5THJ4 VP13D_HUMAN vacuolar protein sorting 13D isoform 1 943 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) TGTTGGAGCAGCATACCCGCG 0.488000 OREG0013110 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) VPS13D 55187 broad.mit.edu 37 1 12338075 12338075 + Missense_Mutation SNP A A C TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chr1:12338075A>C uc001atv.2 + 19 4571 c.4430A>C c.(4429-4431)GAA>GCA p.E1477A VPS13D_uc001atw.2_Missense_Mutation_p.E1477A|VPS13D_uc001atx.2_Missense_Mutation_p.E665A NM_015378 NP_056193 Q5THJ4 VP13D_HUMAN vacuolar protein sorting 13D isoform 1 1477 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) GATTTCTTTGAATCTTTGCAT 0.463000 PRAMEF4 400735 broad.mit.edu 37 1 12942969 12942969 + Missense_Mutation SNP C C A TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chr1:12942969C>A uc001aun.2 - 2 318 c.247G>T c.(247-249)GTG>TTG p.V83L NM_001009611 NP_001009611 O60810 PRAM4_HUMAN PRAME family member 4 83 ovary(1) 1 Ovarian(185;0.249) Lung NSC(185;3.67e-05)|all_lung(284;4.03e-05)|Renal(390;0.000147)|Breast(348;0.000278)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649) CCATCGAGCACAGCTTGGAAG 0.622000 SPEN 23013 broad.mit.edu 37 1 16255927 16255927 + Missense_Mutation SNP A A T TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chr1:16255927A>T uc001axk.1 + 11 3396 c.3192A>T c.(3190-3192)AAA>AAT p.K1064N SPEN_uc010obp.1_Missense_Mutation_p.K1023N NM_015001 NP_055816 Q96T58 MINT_HUMAN spen homolog, transcriptional regulator 1064 interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway nucleus nucleotide binding|protein binding|RNA binding ovary(6)|breast(3)|lung(2)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1) 15 Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681) CCAGCCCCAAAGACTGTCAGG 0.458000 KIF17 57576 broad.mit.edu 37 1 20998458 20998458 + Missense_Mutation SNP C C T TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chr1:20998458C>T uc001bdr.3 - 12 2813 c.2695G>A c.(2695-2697)GTC>ATC p.V899I KIF17_uc001bdp.3_Missense_Mutation_p.V177I|KIF17_uc001bdq.3_Missense_Mutation_p.V177I|KIF17_uc009vpx.2_Missense_Mutation_p.V269I|KIF17_uc001bds.3_Missense_Mutation_p.V899I NM_020816 NP_065867 Q9P2E2 KIF17_HUMAN kinesin family member 17 isoform a 899 microtubule-based movement|protein transport cytoplasm|microtubule ATP binding ovary(3)|skin(1) 4 all_lung(284;2.99e-05)|Lung NSC(340;3.26e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|COAD - Colon adenocarcinoma(152;1.43e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000168)|Kidney(64;0.000221)|GBM - Glioblastoma multiforme(114;0.000651)|KIRC - Kidney renal clear cell carcinoma(64;0.0031)|STAD - Stomach adenocarcinoma(196;0.00336)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.209) TTTGTGATGACGGGATGTGGG 0.577000 MAN1C1 57134 broad.mit.edu 37 1 26012981 26012981 + Silent SNP C C T TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chr1:26012981C>T uc001bkm.2 + 2 921 c.591C>T c.(589-591)AAC>AAT p.N197N MAN1C1_uc009vry.1_Silent_p.N17N NM_020379 NP_065112 Q9NR34 MA1C1_HUMAN mannosidase, alpha, class 1C, member 1 197 Lumenal (Potential). post-translational protein modification|protein N-linked glycosylation via asparagine integral to Golgi membrane calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity skin(1) 1 Colorectal(325;3.78e-05)|Lung NSC(340;0.000181)|all_lung(284;0.000245)|Renal(390;0.000714)|Ovarian(437;0.00159)|Breast(348;0.0156)|Myeloproliferative disorder(586;0.0257)|all_neural(195;0.0515)|Esophageal squamous(538;0.232) UCEC - Uterine corpus endometrioid carcinoma (279;0.0574)|OV - Ovarian serous cystadenocarcinoma(117;2.46e-25)|Colorectal(126;1.15e-07)|COAD - Colon adenocarcinoma(152;4.31e-06)|STAD - Stomach adenocarcinoma(196;0.00125)|BRCA - Breast invasive adenocarcinoma(304;0.00141)|KIRC - Kidney renal clear cell carcinoma(1967;0.00146)|GBM - Glioblastoma multiforme(114;0.0149)|READ - Rectum adenocarcinoma(331;0.0803) TGGGGAAAAACGAACTCCGTC 0.493000 YTHDF2 51441 broad.mit.edu 37 1 29069898 29069898 + Silent SNP A A C TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chr1:29069898A>C uc001brc.2 + 4 1613 c.1116A>C c.(1114-1116)GGA>GGC p.G372G YTHDF2_uc001brd.2_Silent_p.G369G|YTHDF2_uc010ofx.1_Silent_p.G322G|YTHDF2_uc001bre.2_Silent_p.G322G NM_016258 NP_057342 Q9Y5A9 YTHD2_HUMAN high glucose-regulated protein 8 372 humoral immune response ovary(1)|skin(1) 2 Colorectal(325;3.46e-05)|Lung NSC(340;0.000601)|all_lung(284;0.000771)|Breast(348;0.00502)|Renal(390;0.00758)|all_neural(195;0.0227)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123) Colorectal(126;8.36e-08)|COAD - Colon adenocarcinoma(152;5.46e-06)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0221)|KIRC - Kidney renal clear cell carcinoma(1967;0.0296)|READ - Rectum adenocarcinoma(331;0.0649) ATGGAGTAGGACAGTCTCAGG 0.522000 CSMD2 114784 broad.mit.edu 37 1 33988919 33988919 + Silent SNP A A C TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chr1:33988919A>C uc001bxn.1 - 66 10094 c.10065T>G c.(10063-10065)GCT>GCG p.A3355A CSMD2_uc001bxm.1_Silent_p.A3499A NM_052896 NP_443128 Q7Z408 CSMD2_HUMAN CUB and Sushi multiple domains 2 3355 Extracellular (Potential). integral to membrane|plasma membrane protein binding ovary(6)|skin(5)|pancreas(1) 12 Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249) GGCCATCTAAAGCCCAGTGAT 0.468000 OSCP1 127700 broad.mit.edu 37 1 36888482 36888482 + Silent SNP T T C TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chr1:36888482T>C uc001cap.2 - 7 748 c.666A>G c.(664-666)AAA>AAG p.K222K OSCP1_uc001caq.2_Silent_p.K212K NM_145047 NP_659484 Q8WVF1 OSCP1_HUMAN oxidored-nitro domain-containing protein isoform 222 transport basal plasma membrane ovary(2)|central_nervous_system(1)|pancreas(1) 4 CTTCTTCACCTTTGTTGTTGA 0.398000 MACF1 23499 broad.mit.edu 37 1 39798125 39798125 + Silent SNP C C T TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chr1:39798125C>T uc010oiu.1 + 1 1316 c.1185C>T c.(1183-1185)GCC>GCT p.A395A MACF1_uc010ois.1_Intron|MACF1_uc001cda.1_Intron|MACF1_uc001cdc.1_Intron|MACF1_uc001cdb.1_Intron NM_033044 NP_149033 Q9UPN3 MACF1_HUMAN microfilament and actin filament cross-linker 1960 cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing Golgi apparatus|microtubule|ruffle membrane actin filament binding|ATPase activity|calcium ion binding|microtubule binding ovary(8)|breast(3)|central_nervous_system(3)|skin(2) 16 Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204) ACCCTAAGGCCACAGCAAGCC 0.468000 PIK3R3 8503 broad.mit.edu 37 1 46511630 46511630 + Missense_Mutation SNP G G A TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chr1:46511630G>A uc001cpb.3 - 9 1903 c.1147C>T c.(1147-1149)CGT>TGT p.R383C PIK3R3_uc009vyb.2_Missense_Mutation_p.R324C|PIK3R3_uc009vyc.2_Missense_Mutation_p.R400C|PIK3R3_uc001cpc.3_Missense_Mutation_p.R383C|PIK3R3_uc010olw.1_Missense_Mutation_p.R429C|PIK3R3_uc010olv.1_Missense_Mutation_p.R173C NM_003629 NP_003620 Q92569 P55G_HUMAN phosphoinositide-3-kinase, regulatory subunit 3 383 SH2 2. insulin receptor signaling pathway|platelet activation|T cell costimulation 1-phosphatidylinositol-3-kinase activity|protein binding 0 Acute lymphoblastic leukemia(166;0.155) CTACTCTCACGAATTAAGAAT 0.393000 C1orf168 199920 broad.mit.edu 37 1 57257967 57257967 + Silent SNP T T C TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chr1:57257967T>C uc001cym.3 - 2 925 c.519A>G c.(517-519)AAA>AAG p.K173K C1orf168_uc009vzu.1_RNA|C1orf168_uc009vzv.1_Silent_p.K173K NM_001004303 NP_001004303 Q5VWT5 CA168_HUMAN hypothetical protein LOC199920 173 ovary(3)|skin(2) 5 GCCCCATGCCTTTTTGCCCTT 0.493000 CACHD1 57685 broad.mit.edu 37 1 65146982 65146982 + Missense_Mutation SNP G G A TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chr1:65146982G>A uc001dbo.1 + 25 3400 c.3295G>A c.(3295-3297)GAA>AAA p.E1099K CACHD1_uc001dbp.1_Missense_Mutation_p.E854K|CACHD1_uc001dbq.1_Missense_Mutation_p.E854K|CACHD1_uc010opa.1_Missense_Mutation_p.E343K NM_020925 NP_065976 Q5VU97 CAHD1_HUMAN cache domain containing 1 1150 Cytoplasmic (Potential). calcium ion transport integral to membrane ovary(2) 2 TGACAGAGATGAAAGGGACGA 0.428000 IL12RB2 3595 broad.mit.edu 37 1 67793930 67793930 + Missense_Mutation SNP T T G TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chr1:67793930T>G uc001ddu.2 + 5 1167 c.527T>G c.(526-528)ATT>AGT p.I176S IL12RB2_uc010oqi.1_Missense_Mutation_p.I176S|IL12RB2_uc010oqj.1_Missense_Mutation_p.I176S|IL12RB2_uc010oqk.1_RNA|IL12RB2_uc010oql.1_Missense_Mutation_p.I176S|IL12RB2_uc010oqm.1_Missense_Mutation_p.I176S|IL12RB2_uc010oqn.1_RNA NM_001559 NP_001550 Q99665 I12R2_HUMAN interleukin 12 receptor, beta 2 precursor 176 Extracellular (Potential).|Fibronectin type-III 1. positive regulation of cell proliferation|positive regulation of interferon-gamma production integral to plasma membrane cytokine receptor activity ovary(2)|central_nervous_system(1) 3 TGTAAAGACATTTATTGTGAC 0.398000 LRRC7 57554 broad.mit.edu 37 1 70555444 70555444 + Missense_Mutation SNP G G A TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chr1:70555444G>A uc001dep.2 + 23 4403 c.4373G>A c.(4372-4374)GGA>GAA p.G1458E LRRC7_uc009wbg.2_Missense_Mutation_p.G742E|LRRC7_uc001deq.2_Missense_Mutation_p.G652E NM_020794 NP_065845 Q96NW7 LRRC7_HUMAN leucine rich repeat containing 7 1458 PDZ. centrosome|focal adhesion|nucleolus protein binding ovary(9)|breast(2)|central_nervous_system(2)|liver(1) 14 CCTGGCCTTGGATTTAGTATC 0.289000 WDR63 126820 broad.mit.edu 37 1 85546958 85546958 + Missense_Mutation SNP C C A TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chr1:85546958C>A uc001dkt.2 + 4 336 c.145C>A c.(145-147)CAA>AAA p.Q49K WDR63_uc009wcl.2_Missense_Mutation_p.Q49K NM_145172 NP_660155 Q8IWG1 WDR63_HUMAN WD repeat domain 63 49 upper_aerodigestive_tract(2)|ovary(2)|skin(1) 5 all cancers(265;0.00391)|Epithelial(280;0.00922)|Colorectal(170;0.166) CACCAAGACCCAAGAAATATT 0.343000 COL24A1 255631 broad.mit.edu 37 1 86487966 86487966 + Missense_Mutation SNP C C G TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chr1:86487966C>G uc001dlj.2 - 18 2255 c.2213G>C c.(2212-2214)GGT>GCT p.G738A COL24A1_uc010osd.1_Missense_Mutation_p.G38A|COL24A1_uc001dlk.2_RNA|COL24A1_uc010ose.1_RNA|COL24A1_uc010osf.1_RNA NM_152890 NP_690850 Q17RW2 COOA1_HUMAN collagen, type XXIV, alpha 1 precursor 738 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) TCCTGGTAAACCAACAGCACC 0.398000 LRRC8C 84230 broad.mit.edu 37 1 90178825 90178825 + Missense_Mutation SNP A A T TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chr1:90178825A>T uc001dnl.3 + 3 938 c.696A>T c.(694-696)AAA>AAT p.K232N NM_032270 NP_115646 Q8TDW0 LRC8C_HUMAN leucine rich repeat containing 8 family, member 232 endoplasmic reticulum membrane|integral to membrane ovary(3)|skin(3)|pancreas(1)|central_nervous_system(1) 8 all_lung(203;0.126) all cancers(265;0.00756)|Epithelial(280;0.0313) CTCTGGATAAAAAGGAAGGTG 0.448000 BRDT 676 broad.mit.edu 37 1 92442816 92442816 + Missense_Mutation SNP A A G TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chr1:92442816A>G uc001dok.3 + 6 1184 c.835A>G c.(835-837)ATT>GTT p.I279V BRDT_uc001dol.3_Missense_Mutation_p.I279V|BRDT_uc010osz.1_Missense_Mutation_p.I283V|BRDT_uc009wdf.2_Missense_Mutation_p.I206V|BRDT_uc010ota.1_Missense_Mutation_p.I233V|BRDT_uc010otb.1_Missense_Mutation_p.I233V|BRDT_uc001dom.3_Missense_Mutation_p.I279V NM_207189 NP_997072 Q58F21 BRDT_HUMAN testis-specific bromodomain protein 279 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein serine/threonine kinase activity|transcription coactivator activity stomach(2)|ovary(1)|lung(1) 4 all_lung(203;0.00531)|Lung NSC(277;0.0194) all cancers(265;0.0228)|Epithelial(280;0.133) CTGTAGTGAGATTCTTAAAGA 0.338000 AMY2B 280 broad.mit.edu 37 1 104115765 104115765 + Missense_Mutation SNP T T G TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chr1:104115765T>G uc001duq.2 + 5 1012 c.396T>G c.(394-396)AGT>AGG p.S132R AMY2B_uc010ouo.1_RNA|LOC648740_uc001dur.2_Missense_Mutation_p.S132R|AMY2B_uc001dus.1_5'Flank NM_020978 NP_066188 P19961 AMY2B_HUMAN amylase, pancreatic, alpha-2B precursor 132 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) CCTGTGGAAGTTACTTCAACC 0.403000 AMY2B 280 broad.mit.edu 37 1 104117951 104117951 + Missense_Mutation SNP A A G TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chr1:104117951A>G uc001duq.2 + 8 1601 c.985A>G c.(985-987)ACC>GCC p.T329A AMY2B_uc010ouo.1_RNA|LOC648740_uc001dur.2_Missense_Mutation_p.T329A|AMY2B_uc001dus.1_5'Flank NM_020978 NP_066188 P19961 AMY2B_HUMAN amylase, pancreatic, alpha-2B precursor 329 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) CTCTATTCTTACCTTCTGGGA 0.388000 AKNAD1 254268 broad.mit.edu 37 1 109394496 109394496 + Missense_Mutation SNP A A C TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chr1:109394496A>C uc001dwa.2 - 2 1060 c.791T>G c.(790-792)ATT>AGT p.I264S AKNAD1_uc010ovb.1_Intron|AKNAD1_uc001dwb.2_RNA NM_152763 NP_689976 Q5T1N1 AKND1_HUMAN hypothetical protein LOC254268 264 ovary(3) 3 TTTGGGAGCAATCTTAGAGAA 0.398000 CAPZA1 829 broad.mit.edu 37 1 113212713 113212713 + Missense_Mutation SNP A A G TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chr1:113212713A>G uc001ecj.1 + 10 1212 c.820A>G c.(820-822)ATA>GTA p.I274V NM_006135 NP_006126 P52907 CAZA1_HUMAN F-actin capping protein alpha-1 subunit 274 actin cytoskeleton organization|actin filament capping|blood coagulation|cellular component movement|innate immune response|protein complex assembly cytosol|extracellular region|F-actin capping protein complex|WASH complex actin binding 0 Lung SC(450;0.246) all_cancers(81;1.44e-07)|all_epithelial(167;7.64e-07)|all_lung(203;2.16e-05)|Lung NSC(69;3.86e-05) Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133) CTGGAACAAGATACTCAGCTA 0.428000 LRIG2 9860 broad.mit.edu 37 1 113655213 113655213 + Missense_Mutation SNP A A T TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chr1:113655213A>T uc001edf.1 + 14 2109 c.1911A>T c.(1909-1911)AAA>AAT p.K637N LRIG2_uc009wgn.1_Missense_Mutation_p.K534N NM_014813 NP_055628 O94898 LRIG2_HUMAN leucine-rich repeats and immunoglobulin-like 637 Ig-like C2-type 2.|Extracellular (Potential). cytoplasm|integral to membrane|plasma membrane ovary(3) 3 Lung SC(450;0.246) all_cancers(81;1.56e-05)|all_epithelial(167;2.62e-05)|all_lung(203;0.000665)|Lung NSC(69;0.000986) Lung(183;0.0279)|Colorectal(144;0.0885)|COAD - Colon adenocarcinoma(174;0.134)|all cancers(265;0.139)|Epithelial(280;0.143)|LUSC - Lung squamous cell carcinoma(189;0.15) CCTGGCAGAAAGATGGTGGTA 0.493000 TRIM45 80263 broad.mit.edu 37 1 117656011 117656011 + Missense_Mutation SNP C C T TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chr1:117656011C>T uc001egz.2 - 5 2152 c.1564G>A c.(1564-1566)GCT>ACT p.A522T TRIM45_uc009whe.2_Missense_Mutation_p.A504T|TRIM45_uc001eha.2_Missense_Mutation_p.A418T NM_025188 NP_079464 Q9H8W5 TRI45_HUMAN tripartite motif-containing 45 isoform 1 522 cytoplasm|nucleus zinc ion binding central_nervous_system(1) 1 Lung SC(450;0.225) all_cancers(81;0.000979)|all_lung(203;7.65e-05)|all_epithelial(167;0.000134)|Lung NSC(69;0.000389) Lung(183;0.0537)|Colorectal(144;0.172)|LUSC - Lung squamous cell carcinoma(189;0.187) GCGCAGCGAGCGGTTTTCTGG 0.617000 ADAM30 11085 broad.mit.edu 37 1 120436891 120436891 + Missense_Mutation SNP G G A TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chr1:120436891G>A uc001eij.2 - 1 2223 c.2069C>T c.(2068-2070)TCC>TTC p.S690F NM_021794 NP_068566 Q9UKF2 ADA30_HUMAN ADAM metallopeptidase domain 30 preproprotein 690 Helical; (Potential). proteolysis integral to membrane metalloendopeptidase activity|zinc ion binding ovary(2)|lung(1) 3 all_cancers(5;7.07e-10)|all_epithelial(5;1.62e-10)|all_neural(166;0.153)|Breast(55;0.234) all_lung(203;1.55e-06)|Lung NSC(69;1.04e-05)|all_epithelial(167;0.00138) Lung(183;0.0204)|LUSC - Lung squamous cell carcinoma(189;0.117) CATTATGATGGACACAACCCA 0.453000 SETDB1 9869 broad.mit.edu 37 1 150936034 150936034 + Missense_Mutation SNP A A T TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chr1:150936034A>T uc001evu.2 + 20 3676 c.3486A>T c.(3484-3486)AAA>AAT p.K1162N SETDB1_uc001evv.2_Missense_Mutation_p.K1162N|SETDB1_uc009wmg.1_Missense_Mutation_p.K1162N NM_001145415 NP_001138887 Q15047 SETB1_HUMAN SET domain, bifurcated 1 isoform 1 1162 SET. regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|Golgi apparatus|nucleus|plasma membrane DNA binding|histone-lysine N-methyltransferase activity|protein binding|zinc ion binding ovary(2)|upper_aerodigestive_tract(1) 3 all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|BRCA - Breast invasive adenocarcinoma(12;0.0152)|LUSC - Lung squamous cell carcinoma(543;0.211) TGGCAGTAAAATCAACCCGAG 0.483000 POGZ 23126 broad.mit.edu 37 1 151378288 151378288 + Missense_Mutation SNP A A C TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chr1:151378288A>C uc001eyd.1 - 19 3529 c.3223T>G c.(3223-3225)TTC>GTC p.F1075V POGZ_uc001eye.1_Missense_Mutation_p.F1022V|POGZ_uc010pdb.1_Missense_Mutation_p.F1066V|POGZ_uc001eyf.1_Missense_Mutation_p.F1031V|POGZ_uc010pdc.1_Missense_Mutation_p.F1013V|POGZ_uc009wmv.1_Missense_Mutation_p.F980V|POGZ_uc010pdd.1_Missense_Mutation_p.F566V NM_015100 NP_055915 Q7Z3K3 POGZ_HUMAN pogo transposable element with ZNF domain 1075 HTH CENPB-type. cell division|kinetochore assembly|mitotic sister chromatid cohesion|regulation of transcription, DNA-dependent cytoplasm|nuclear chromatin DNA binding|protein binding|zinc ion binding ovary(3) 3 Lung SC(34;0.00471)|Ovarian(49;0.00672)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181) CGCAGCATGAAACGCACAGCC 0.522000 FLG 2312 broad.mit.edu 37 1 152286342 152286342 + Missense_Mutation SNP A A C rs140261784 byFrequency TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chr1:152286342A>C uc001ezu.1 - 3 1056 c.1020T>G c.(1018-1020)GAT>GAG p.D340E uc001ezv.2_RNA NM_002016 NP_002007 P20930 FILA_HUMAN filaggrin 340 Ser-rich. keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity ovary(9)|skin(4)|upper_aerodigestive_tract(3) 16 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) CTCTGTCTTCATCATGGGACC 0.562000 Ichthyosis FLG2 388698 broad.mit.edu 37 1 152325738 152325738 + Missense_Mutation SNP T T G TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chr1:152325738T>G uc001ezw.3 - 3 4597 c.4524A>C c.(4522-4524)GAA>GAC p.E1508D uc001ezv.2_Intron NM_001014342 NP_001014364 Q5D862 FILA2_HUMAN filaggrin family member 2 1508 Filaggrin 5. calcium ion binding|structural molecule activity ovary(10)|skin(5)|upper_aerodigestive_tract(1)|breast(1) 17 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) CTGAGTGCACTTCACTGTCAC 0.502000 C1orf43 25912 broad.mit.edu 37 1 154180073 154180073 + Silent SNP T T C TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chr1:154180073T>C uc001fei.2 - 7 1008 c.618A>G c.(616-618)AAA>AAG p.K206K C1orf189_uc001fee.1_5'Flank|C1orf43_uc001fef.1_Silent_p.K103K|C1orf43_uc001feg.2_Silent_p.K172K|C1orf43_uc001feh.2_Silent_p.K154K|C1orf43_uc001fej.2_Silent_p.K188K|C1orf43_uc009wos.1_3'UTR NM_001098616 NP_001092086 Q9BWL3 CA043_HUMAN hypothetical protein LOC25912 isoform 3 206 integral to membrane coenzyme binding|oxidoreductase activity 0 all_lung(78;1.98e-30)|Lung NSC(65;2.87e-28)|Hepatocellular(266;0.0877) GAGTTAGGTCTTTGGCTGCTG 0.502000 ADAR 103 broad.mit.edu 37 1 154574777 154574777 + Missense_Mutation SNP C C T TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chr1:154574777C>T uc001ffh.2 - 2 541 c.341G>A c.(340-342)CGT>CAT p.R114H ADAR_uc001ffj.2_Missense_Mutation_p.R114H|ADAR_uc001ffi.2_Missense_Mutation_p.R114H|ADAR_uc001ffk.2_Translation_Start_Site|ADAR_uc001ffl.1_Translation_Start_Site|ADAR_uc001ffm.1_Intron|ADAR_uc001ffn.1_Intron NM_001111 NP_001102 P55265 DSRAD_HUMAN adenosine deaminase, RNA-specific isoform a 114 adenosine to inosine editing|gene silencing by RNA|mRNA modification|mRNA processing|type I interferon-mediated signaling pathway cytoplasm|nucleolus|nucleoplasm DNA binding|double-stranded RNA adenosine deaminase activity|metal ion binding ovary(3)|breast(1)|central_nervous_system(1)|skin(1) 6 all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.0997) LUSC - Lung squamous cell carcinoma(543;0.185) Colorectal(1306;0.115) ACTCCTGCCACGTGGTGAAGG 0.537000 PBXIP1 57326 broad.mit.edu 37 1 154919262 154919262 + Silent SNP A A C TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chr1:154919262A>C uc001ffr.2 - 10 947 c.888T>G c.(886-888)CTT>CTG p.L296L PBXIP1_uc001ffs.2_Silent_p.L267L|PBXIP1_uc010pep.1_Silent_p.L141L NM_020524 NP_065385 Q96AQ6 PBIP1_HUMAN pre-B-cell leukemia homeobox interacting protein 296 Potential. cell differentiation|multicellular organismal development|negative regulation of transcription, DNA-dependent cytosol|microtubule|nucleus protein binding|transcription corepressor activity large_intestine(1) 1 all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.245) BRCA - Breast invasive adenocarcinoma(34;0.00034) TCAGGCTCTGAAGCTCTTCCT 0.552000 OR10Z1 128368 broad.mit.edu 37 1 158576882 158576882 + Silent SNP C C T TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chr1:158576882C>T uc010pio.1 + 1 654 c.654C>T c.(652-654)TAC>TAT p.Y218Y NM_001004478 NP_001004478 Q8NGY1 O10Z1_HUMAN olfactory receptor, family 10, subfamily Z, 218 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity pancreas(1)|skin(1) 2 all_hematologic(112;0.0378) CCATCTCCTACGCCTACATCT 0.512000 SPTA1 6708 broad.mit.edu 37 1 158614075 158614075 + Missense_Mutation SNP G G A TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chr1:158614075G>A uc001fst.1 - 30 4505 c.4306C>T c.(4306-4308)CGG>TGG p.R1436W NM_003126 NP_003117 P02549 SPTA1_HUMAN spectrin, alpha, erythrocytic 1 1436 Spectrin 14. actin filament capping|actin filament organization|axon guidance|regulation of cell shape cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton actin filament binding|calcium ion binding|structural constituent of cytoskeleton ovary(4)|skin(2)|upper_aerodigestive_tract(1)|breast(1) 8 all_hematologic(112;0.0378) AAATCGTCCCGTTTCTTCATC 0.368000 OLFML2B 25903 broad.mit.edu 37 1 161968040 161968040 + Missense_Mutation SNP G G T TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chr1:161968040G>T uc001gbu.2 - 6 1473 c.1049C>A c.(1048-1050)GCA>GAA p.A350E OLFML2B_uc010pkq.1_Missense_Mutation_p.A351E NM_015441 NP_056256 Q68BL8 OLM2B_HUMAN olfactomedin-like 2B precursor 350 skin(1) 1 all_hematologic(112;0.156) BRCA - Breast invasive adenocarcinoma(70;0.0172) ACGGGTGGCTGCAGGCCTCCG 0.587000 DUSP27 92235 broad.mit.edu 37 1 167096038 167096038 + Missense_Mutation SNP A A T TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chr1:167096038A>T uc001geb.1 + 5 1670 c.1670A>T c.(1669-1671)CAC>CTC p.H557L NM_001080426 NP_001073895 Q5VZP5 DUS27_HUMAN dual specificity phosphatase 27 557 protein dephosphorylation protein tyrosine/serine/threonine phosphatase activity ovary(3) 3 TTTGGATTTCACAAGAAAGAC 0.552000 SELE 6401 broad.mit.edu 37 1 169694904 169694904 + Missense_Mutation SNP T T C TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chr1:169694904T>C uc001ggm.3 - 13 1971 c.1814A>G c.(1813-1815)AAG>AGG p.K605R C1orf112_uc001ggj.2_Intron NM_000450 NP_000441 P16581 LYAM2_HUMAN selectin E precursor 605 Cytoplasmic (Potential). actin filament-based process|activation of phospholipase C activity|calcium-mediated signaling|heterophilic cell-cell adhesion|leukocyte migration involved in inflammatory response|leukocyte tethering or rolling|positive regulation of receptor internalization|regulation of inflammatory response|response to interleukin-1|response to lipopolysaccharide|response to tumor necrosis factor caveola|coated pit|cortical cytoskeleton|extracellular space|integral to membrane|perinuclear region of cytoplasm oligosaccharide binding|phospholipase binding|sialic acid binding|transmembrane receptor activity ovary(3)|skin(2) 5 all_hematologic(923;0.208) GTAAGAAGGCTTTTGGTAGCT 0.388000 C1orf156 92342 broad.mit.edu 37 1 169762022 169762022 + Missense_Mutation SNP T T C TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chr1:169762022T>C uc001ggn.2 - 2 1093 c.815A>G c.(814-816)GAG>GGG p.E272G C1orf112_uc001ggj.2_Intron|C1orf112_uc001ggo.2_5'Flank|uc010plt.1_5'Flank|C1orf112_uc001ggp.2_5'Flank|C1orf112_uc001ggq.2_5'Flank|C1orf112_uc009wvt.2_5'Flank NM_033418 NP_219486 O95568 MET18_HUMAN hypothetical protein MGC9084 272 cytoplasm protein methyltransferase activity 0 all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181) CTTACAAAACTCAGACCACTC 0.323000 METTL13 51603 broad.mit.edu 37 1 171755119 171755119 + Silent SNP T T C TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chr1:171755119T>C uc001ghz.2 + 3 1361 c.1014T>C c.(1012-1014)CTT>CTC p.L338L METTL13_uc001gia.2_Silent_p.L252L|METTL13_uc001gib.2_Silent_p.L182L|METTL13_uc010pml.1_Silent_p.L337L NM_015935 NP_057019 Q8N6R0 MTL13_HUMAN CGI-01 protein isoform 1 338 methyltransferase activity|protein binding kidney(1) 1 CAGTGGCCCTTCACCGAGGTC 0.617000 SLC9A11 284525 broad.mit.edu 37 1 173570870 173570870 + Missense_Mutation SNP A A C TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chr1:173570870A>C uc001giz.2 - 2 469 c.46T>G c.(46-48)TTA>GTA p.L16V SLC9A11_uc010pmq.1_Intron NM_178527 NP_848622 Q5TAH2 S9A11_HUMAN solute carrier family 9, member 11 16 sodium ion transport integral to membrane ion channel activity|solute:hydrogen antiporter activity ovary(2) 2 CCGCAGAGTAAATCAGGTCTG 0.418000 TNN 63923 broad.mit.edu 37 1 175054550 175054550 + Missense_Mutation SNP C C T TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chr1:175054550C>T uc001gkl.1 + 6 1357 c.1244C>T c.(1243-1245)CCG>CTG p.P415L TNN_uc010pmx.1_Missense_Mutation_p.P415L NM_022093 NP_071376 Q9UQP3 TENN_HUMAN tenascin N precursor 415 Fibronectin type-III 2. cell growth|cell migration|signal transduction extracellular space|proteinaceous extracellular matrix large_intestine(5)|ovary(3)|central_nervous_system(1) 9 Breast(1374;0.000962) KIRC - Kidney renal clear cell carcinoma(1967;0.00198) GGTCTGCACCCGGGGACTGAG 0.602000 CEP350 9857 broad.mit.edu 37 1 180022921 180022921 + Missense_Mutation SNP T T G TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chr1:180022921T>G uc001gnt.2 + 24 5409 c.5026T>G c.(5026-5028)TTT>GTT p.F1676V CEP350_uc009wxl.2_Missense_Mutation_p.F1675V NM_014810 NP_055625 Q5VT06 CE350_HUMAN centrosome-associated protein 350 1676 centrosome|nucleus|spindle ovary(4) 4 ACAAGATAGCTTTTCTAAATT 0.398000 FAM5C 339479 broad.mit.edu 37 1 190129816 190129816 + Missense_Mutation SNP A A C TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chr1:190129816A>C uc001gse.1 - 7 1398 c.1166T>G c.(1165-1167)ATC>AGC p.I389S FAM5C_uc010pot.1_Missense_Mutation_p.I287S NM_199051 NP_950252 Q76B58 FAM5C_HUMAN family with sequence similarity 5, member C 389 extracellular region lung(2)|ovary(1)|kidney(1)|skin(1) 5 Prostate(682;0.198) TGGCAGGCTGATGAGGGGTTG 0.383000 ASPM 259266 broad.mit.edu 37 1 197086984 197086984 + Missense_Mutation SNP T T G TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chr1:197086984T>G uc001gtu.2 - 17 4257 c.4000A>C c.(4000-4002)AAA>CAA p.K1334Q ASPM_uc001gtv.2_Missense_Mutation_p.K1334Q|ASPM_uc001gtw.3_Intron NM_018136 NP_060606 Q8IZT6 ASPM_HUMAN asp (abnormal spindle)-like, microcephaly 1334 mitosis cytoplasm|nucleus calmodulin binding ovary(4)|central_nervous_system(2) 6 ATTAATAATTTTCTCTGTGCT 0.303000 KIF14 9928 broad.mit.edu 37 1 200587269 200587269 + Missense_Mutation SNP T T G TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chr1:200587269T>G uc010ppk.1 - 2 1022 c.583A>C c.(583-585)AAA>CAA p.K195Q KIF14_uc010ppj.1_5'UTR NM_014875 NP_055690 Q15058 KIF14_HUMAN kinesin family member 14 195 Required for PRC1-binding. microtubule-based movement cytoplasm|microtubule|nucleus|spindle ATP binding|microtubule motor activity|protein binding breast(3)|ovary(2)|skin(2) 7 TCTTTGTATTTCTTATCAGCC 0.368000 CAMSAP1L1 23271 broad.mit.edu 37 1 200816802 200816802 + Silent SNP T T G TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chr1:200816802T>G uc001gvl.2 + 11 1530 c.1260T>G c.(1258-1260)GTT>GTG p.V420V CAMSAP1L1_uc001gvk.2_Silent_p.V409V|CAMSAP1L1_uc001gvm.2_Silent_p.V393V NM_203459 NP_982284 Q08AD1 CAMP2_HUMAN calmodulin regulated spectrin-associated protein 420 cytoplasm|microtubule protein binding ovary(2)|large_intestine(1)|pancreas(1) 4 TGTCTTATGTTGATGGCTTCA 0.318000 LMOD1 25802 broad.mit.edu 37 1 201869385 201869385 + Missense_Mutation SNP A A T TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chr1:201869385A>T uc001gxb.2 - 2 1004 c.756T>A c.(754-756)GAT>GAA p.D252E LMOD1_uc010ppu.1_Missense_Mutation_p.D201E NM_012134 NP_036266 P29536 LMOD1_HUMAN leiomodin 1 (smooth muscle) 252 8 X approximate tandem repeats.|6. muscle contraction cytoskeleton|cytosol|membrane fraction tropomyosin binding ovary(1)|pancreas(1)|skin(1) 3 TTACCTTCTCATCCTCCTTTT 0.383000 FMOD 2331 broad.mit.edu 37 1 203317106 203317106 + Missense_Mutation SNP T T G TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chr1:203317106T>G uc001gzr.2 - 2 429 c.293A>C c.(292-294)AAG>ACG p.K98T FMOD_uc010pqi.1_RNA NM_002023 NP_002014 Q06828 FMOD_HUMAN fibromodulin precursor 98 LRRNT. transforming growth factor beta receptor complex assembly extracellular space|proteinaceous extracellular matrix ovary(2)|breast(1) 3 BRCA - Breast invasive adenocarcinoma(75;0.171) GGGCAGGTACTTGAGGTTGCG 0.582000 TRAF3IP3 80342 broad.mit.edu 37 1 209950798 209950798 + Silent SNP A A G TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chr1:209950798A>G uc001hho.2 + 12 1445 c.1155A>G c.(1153-1155)AGA>AGG p.R385R TRAF3IP3_uc001hhl.2_Silent_p.R365R|TRAF3IP3_uc001hhm.1_Intron|TRAF3IP3_uc001hhn.2_Silent_p.R365R|TRAF3IP3_uc009xcr.2_Silent_p.R385R NM_025228 NP_079504 Q9Y228 T3JAM_HUMAN TRAF3-interacting JNK-activating modulator 385 Cytoplasmic (Potential).|Potential. integral to membrane protein binding large_intestine(1)|ovary(1) 2 OV - Ovarian serous cystadenocarcinoma(81;0.045) AAGGGGACAGAGACCTGTGCA 0.512000 VASH2 79805 broad.mit.edu 37 1 213147373 213147373 + Missense_Mutation SNP A A T TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chr1:213147373A>T uc001hjy.2 + 6 1160 c.956A>T c.(955-957)CAG>CTG p.Q319L VASH2_uc001hjv.2_RNA|VASH2_uc001hjx.2_Missense_Mutation_p.Q254L|VASH2_uc010ptn.1_Missense_Mutation_p.Q215L|VASH2_uc001hjw.2_Missense_Mutation_p.Q275L NM_001136475 NP_001129947 Q86V25 VASH2_HUMAN vasohibin 2 isoform 3 319 positive regulation of angiogenesis|positive regulation of endothelial cell proliferation cytoplasm 0 OV - Ovarian serous cystadenocarcinoma(81;0.00479)|all cancers(67;0.00844)|GBM - Glioblastoma multiforme(131;0.0496)|Epithelial(68;0.0986) AGAAGGAGACAGGCAAGCCCC 0.552000 CENPF 1063 broad.mit.edu 37 1 214815833 214815833 + Silent SNP G G A TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chr1:214815833G>A uc001hkm.2 + 12 4326 c.4152G>A c.(4150-4152)TTG>TTA p.L1384L NM_016343 NP_057427 P49454 CENPF_HUMAN centromere protein F Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment cell differentiation|cell division|cell proliferation|DNA replication|G2 phase of mitotic cell cycle|kinetochore assembly|metaphase plate congression|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|muscle organ development|negative regulation of transcription, DNA-dependent|protein transport|regulation of G2/M transition of mitotic cell cycle|regulation of striated muscle tissue development|response to drug condensed chromosome outer kinetochore|cytosol|midbody|nuclear envelope|nuclear matrix|perinuclear region of cytoplasm|spindle pole chromatin binding|dynein binding|protein C-terminus binding|protein homodimerization activity|transcription factor binding ovary(6)|central_nervous_system(4)|large_intestine(2)|skin(1) 13 all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833) TGGCTCCATTGGACGAGAGTA 0.423000 TP53BP2 7159 broad.mit.edu 37 1 223971971 223971971 + Missense_Mutation SNP G G A TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chr1:223971971G>A uc010pvb.1 - 17 3501 c.3209C>T c.(3208-3210)GCG>GTG p.A1070V TP53BP2_uc001hod.2_Missense_Mutation_p.A941V|TP53BP2_uc010puz.1_Missense_Mutation_p.A303V|TP53BP2_uc010pva.1_Missense_Mutation_p.A709V NM_001031685 NP_001026855 Q13625 ASPP2_HUMAN tumor protein p53 binding protein, 2 isoform 1 1064 Mediates interaction with APC2.|SH3. apoptosis|cell cycle|induction of apoptosis|negative regulation of cell cycle|signal transduction nucleus|perinuclear region of cytoplasm NF-kappaB binding|protein binding|SH3 domain binding|SH3/SH2 adaptor activity ovary(2)|lung(1) 3 GBM - Glioblastoma multiforme(131;0.0958) ATCCCAAAGCGCATAAATGAC 0.403000 PARP1 142 broad.mit.edu 37 1 226553738 226553738 + Missense_Mutation SNP A A T TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chr1:226553738A>T uc001hqd.3 - 18 2593 c.2422T>A c.(2422-2424)TCT>ACT p.S808T NM_001618 NP_001609 P09874 PARP1_HUMAN poly (ADP-ribose) polymerase family, member 1 808 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) GCTTCTTCAGAATCTCTGTCA 0.448000 Direct_reversal_of_damage|PARP_enzymes_that_bind_to_DNA PARP1 142 broad.mit.edu 37 1 226570854 226570854 + Missense_Mutation SNP A A C TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chr1:226570854A>C uc001hqd.3 - 8 1213 c.1042T>G c.(1042-1044)TTG>GTG p.L348V NM_001618 NP_001609 P09874 PARP1_HUMAN poly (ADP-ribose) polymerase family, member 1 348 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) TTAACCTTCAATTTCTTGAGG 0.498000 Direct_reversal_of_damage|PARP_enzymes_that_bind_to_DNA C1orf198 84886 broad.mit.edu 37 1 230979513 230979513 + Missense_Mutation SNP T T C TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chr1:230979513T>C uc001hub.2 - 3 558 c.514A>G c.(514-516)AGG>GGG p.R172G C1orf198_uc009xfh.1_Missense_Mutation_p.R42G|C1orf198_uc001huc.1_5'UTR|C1orf198_uc001hud.1_Missense_Mutation_p.R134G NM_032800 NP_116189 Q9H425 CA198_HUMAN hypothetical protein LOC84886 isoform 1 172 0 Breast(184;0.0871)|Ovarian(103;0.183) Prostate(94;0.178) CTGGAGGACCTGCTGCCTTGG 0.667000 SIPA1L2 57568 broad.mit.edu 37 1 232564266 232564266 + Missense_Mutation SNP T T A TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chr1:232564266T>A uc001hvg.2 - 15 4459 c.4301A>T c.(4300-4302)CAG>CTG p.Q1434L SIPA1L2_uc001hvf.2_Missense_Mutation_p.Q508L NM_020808 NP_065859 Q9P2F8 SI1L2_HUMAN signal-induced proliferation-associated 1 like 1434 regulation of small GTPase mediated signal transduction intracellular GTPase activator activity ovary(2)|central_nervous_system(2)|pancreas(1)|skin(1) 6 all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186) CACCACTGTCTGATGCTGAGT 0.438000 RYR2 6262 broad.mit.edu 37 1 237730077 237730077 + Splice_Site SNP T T C TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chr1:237730077T>C uc001hyl.1 + 28 3543 c.3423_splice c.e28+2 p.K1141_splice NM_001035 NP_001026 Q92736 RYR2_HUMAN cardiac muscle ryanodine receptor 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) GGCTTCAAGGTGAGTGGACTT 0.532000 RYR2 6262 broad.mit.edu 37 1 237806673 237806673 + Missense_Mutation SNP T T C TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chr1:237806673T>C uc001hyl.1 + 48 7388 c.7268T>C c.(7267-7269)TTG>TCG p.L2423S NM_001035 NP_001026 Q92736 RYR2_HUMAN cardiac muscle ryanodine receptor 2423 Cytoplasmic (By similarity).|4 X approximate repeats. 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) AGGTCCATTTTGAGATCCCTC 0.418000 ZNF496 84838 broad.mit.edu 37 1 247486469 247486469 + Missense_Mutation SNP A A G TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chr1:247486469A>G uc001ico.2 - 5 1103 c.638T>C c.(637-639)CTC>CCC p.L213P ZNF496_uc009xgv.2_Missense_Mutation_p.L213P|ZNF496_uc001icp.2_Missense_Mutation_p.L213P|ZNF496_uc010pyv.1_Missense_Mutation_p.L213P NM_032752 NP_116141 Q96IT1 ZN496_HUMAN zinc finger protein 496 213 positive regulation of transcription, DNA-dependent|viral reproduction DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1)|central_nervous_system(1) 2 all_cancers(71;0.000136)|all_epithelial(71;2.62e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0607)|Lung NSC(105;0.0661) OV - Ovarian serous cystadenocarcinoma(106;0.00703) GGGTAGCTGGAGGGTGGTCAC 0.522000 DIP2C 22982 broad.mit.edu 37 10 408454 408454 + Missense_Mutation SNP G G A TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chr10:408454G>A uc001ifp.2 - 22 2860 c.2770C>T c.(2770-2772)CCT>TCT p.P924S DIP2C_uc009xhi.1_Missense_Mutation_p.P310S|DIP2C_uc010pzz.1_Missense_Mutation_p.P245S NM_014974 NP_055789 Q9Y2E4 DIP2C_HUMAN DIP2 disco-interacting protein 2 homolog C 924 nucleus catalytic activity|transcription factor binding breast(4)|ovary(2)|large_intestine(1) 7 all_cancers(4;0.00336)|all_lung(4;0.00732)|Lung NSC(4;0.00785)|all_epithelial(10;0.0159)|Colorectal(49;0.235) OV - Ovarian serous cystadenocarcinoma(33;0.136) Epithelial(11;0.0123)|all cancers(11;0.0467)|Lung(33;0.0864)|OV - Ovarian serous cystadenocarcinoma(14;0.106) CGAGGCTTAGGCAAGTTTGTG 0.567000 UPF2 26019 broad.mit.edu 37 10 12077149 12077149 + Missense_Mutation SNP C C T TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chr10:12077149C>T uc001ila.2 - 1 748 c.274G>A c.(274-276)GAA>AAA p.E92K UPF2_uc001ilb.2_Missense_Mutation_p.E92K|UPF2_uc001ilc.2_Missense_Mutation_p.E92K|UPF2_uc009xiz.1_Missense_Mutation_p.E92K NM_080599 NP_542166 Q9HAU5 RENT2_HUMAN UPF2 regulator of nonsense transcripts homolog 92 Potential.|Glu/Lys-rich. mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay exon-exon junction complex|perinuclear region of cytoplasm identical protein binding|RNA binding central_nervous_system(2)|ovary(1) 3 Renal(717;0.228) tttttttcttcctcttctttt 0.308000 NMT2 9397 broad.mit.edu 37 10 15174868 15174868 + Missense_Mutation SNP T T G TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chr10:15174868T>G uc001inz.1 - 6 751 c.667A>C c.(667-669)AAA>CAA p.K223Q NMT2_uc001ioa.1_Missense_Mutation_p.K210Q|NMT2_uc009xjo.1_Missense_Mutation_p.K223Q|NMT2_uc010qbz.1_Missense_Mutation_p.K35Q NM_004808 NP_004799 O60551 NMT2_HUMAN N-myristoyltransferase 2 223 N-terminal protein myristoylation|protein lipoylation Golgi apparatus|plasma membrane glycylpeptide N-tetradecanoyltransferase activity ovary(1) 1 CCGACCAGTTTTTTATTTGAA 0.468000 ITGA8 8516 broad.mit.edu 37 10 15639293 15639293 + Silent SNP A A G TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chr10:15639293A>G uc001ioc.1 - 21 2124 c.2124T>C c.(2122-2124)TTT>TTC p.F708F ITGA8_uc010qcb.1_Silent_p.F693F NM_003638 NP_003629 P53708 ITA8_HUMAN integrin, alpha 8 precursor 708 Extracellular (Potential). cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development integrin complex receptor activity ovary(3)|lung(3) 6 TCAGTGGTCGAAATCCCTACA 0.502000 MASTL 84930 broad.mit.edu 37 10 27470425 27470425 + Missense_Mutation SNP A A C TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chr10:27470425A>C uc001itm.2 + 11 3036 c.2397A>C c.(2395-2397)GAA>GAC p.E799D MASTL_uc001itl.2_Missense_Mutation_p.E798D|MASTL_uc009xkw.1_Missense_Mutation_p.E760D|MASTL_uc009xkx.1_RNA NM_032844 NP_116233 Q96GX5 GWL_HUMAN microtubule associated serine/threonine 799 Protein kinase. cell division|G2/M transition of mitotic cell cycle|mitosis|negative regulation of protein phosphatase type 2A activity|regulation of cell cycle|response to DNA damage stimulus centrosome|cleavage furrow|nucleus ATP binding|protein phosphatase 2A binding|protein serine/threonine kinase activity stomach(1)|ovary(1)|lung(1) 3 CTTGGCCAGAAGGTGAAGAAA 0.294000 ERCC6 2074 broad.mit.edu 37 10 50678377 50678377 + Missense_Mutation SNP T T G TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chr10:50678377T>G uc001jhs.3 - 18 3783 c.3629A>C c.(3628-3630)AAG>ACG p.K1210T ERCC6_uc009xod.2_Missense_Mutation_p.K370T|ERCC6_uc010qgr.1_Missense_Mutation_p.K580T|ERCC6_uc001jhr.3_Missense_Mutation_p.K578T NM_000124 NP_000115 Q03468 ERCC6_HUMAN excision repair cross-complementing rodent 1210 base-excision repair|positive regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair nucleolus|soluble fraction|transcription elongation factor complex ATP binding|chromatin binding|DNA binding|DNA-dependent ATPase activity|helicase activity|protein C-terminus binding|protein complex binding|protein N-terminus binding lung(5)|breast(5)|ovary(3)|large_intestine(2)|skin(1) 16 TCTGCAATGCTTAGAGTTCTT 0.423000 Direct_reversal_of_damage|NER ANK3 288 broad.mit.edu 37 10 61828586 61828586 + Missense_Mutation SNP T T C TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chr10:61828586T>C uc001jky.2 - 37 12245 c.12053A>G c.(12052-12054)GAA>GGA p.E4018G ANK3_uc001jkw.2_Intron|ANK3_uc009xpa.2_Intron|ANK3_uc001jkx.2_Intron|ANK3_uc010qih.1_Intron|ANK3_uc001jkz.3_Intron|ANK3_uc001jkv.2_Intron|ANK3_uc009xpb.1_Intron NM_020987 NP_066267 Q12955 ANK3_HUMAN ankyrin 3 isoform 1 4018 establishment of protein localization|signal transduction basolateral plasma membrane|cytoplasm|cytoskeleton protein binding skin(9)|ovary(6)|pancreas(2)|central_nervous_system(2) 19 CATCTTTTTTTCTTCTTCAGA 0.458000 PCBD1 5092 broad.mit.edu 37 10 72644971 72644971 + Silent SNP T T G TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chr10:72644971T>G uc001jrn.1 - 3 405 c.154A>C c.(154-156)AGA>CGA p.R52R NM_000281 NP_000272 P61457 PHS_HUMAN pterin-4 alpha-carbinolamine 52 L-phenylalanine catabolic process|regulation of transcription, DNA-dependent|tetrahydrobiopterin biosynthetic process|transcription, DNA-dependent cytosol|nucleus 4-alpha-hydroxytetrahydrobiopterin dehydratase activity|identical protein binding|transcription coactivator activity 0 AGGGCCACTCTTGTCATGAAC 0.507000 CDHR1 92211 broad.mit.edu 37 10 85955269 85955269 + Silent SNP G G A TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chr10:85955269G>A uc001kcv.2 + 2 75 c.75G>A c.(73-75)CCG>CCA p.P25P CDHR1_uc001kcw.2_Silent_p.P25P NM_033100 NP_149091 Q96JP9 CDHR1_HUMAN protocadherin 21 precursor 25 Extracellular (Potential). homophilic cell adhesion calcium ion binding|receptor activity ovary(1) 1 ACTTCGCCCCGCACTTCTTCG 0.612000 GRID1 2894 broad.mit.edu 37 10 87628808 87628808 + Missense_Mutation SNP G G T TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chr10:87628808G>T uc001kdl.1 - 6 1011 c.910C>A c.(910-912)CTG>ATG p.L304M GRID1_uc009xsu.1_RNA NM_017551 NP_060021 Q9ULK0 GRID1_HUMAN glutamate receptor, ionotropic, delta 1 304 Extracellular (Potential). cell junction|integral to membrane|outer membrane-bounded periplasmic space|postsynaptic membrane extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity ovary(5)|upper_aerodigestive_tract(2)|large_intestine(2)|central_nervous_system(1) 10 L-Glutamic Acid(DB00142) TCGCAGAGCAGGGAGGAGATG 0.577000 Multiple Myeloma(13;0.14) TCTN3 26123 broad.mit.edu 37 10 97440352 97440352 + Silent SNP A A C TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chr10:97440352A>C uc001klb.3 - 13 1711 c.1467T>G c.(1465-1467)ACT>ACG p.T489T TCTN3_uc001kla.3_Silent_p.T333T|TCTN3_uc010qoi.1_Silent_p.T341T NM_015631 NP_056446 Q6NUS6 TECT3_HUMAN tectonic 3 isoform a precursor 489 Extracellular (Potential). apoptosis integral to membrane 0 Colorectal(252;0.0815) Epithelial(162;1.69e-07)|all cancers(201;5.63e-06) GACAGCAGGAAGTACAGTTTA 0.458000 ZNF518A 9849 broad.mit.edu 37 10 97919522 97919522 + Missense_Mutation SNP T T G TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chr10:97919522T>G uc001klp.2 + 6 4300 c.3443T>G c.(3442-3444)TTT>TGT p.F1148C ZNF518A_uc001klo.1_Missense_Mutation_p.F618C|ZNF518A_uc001klq.2_Missense_Mutation_p.F1148C|ZNF518A_uc001klr.2_Missense_Mutation_p.F1148C NM_014803 NP_055618 Q6AHZ1 Z518A_HUMAN zinc finger protein 518 1148 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 Colorectal(252;0.0815) Epithelial(162;4.23e-08)|all cancers(201;1.85e-06) CTGAAAATTTTTAACCCTGTT 0.353000 C10orf28 27291 broad.mit.edu 37 10 99968636 99968636 + Silent SNP A A C TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chr10:99968636A>C uc001kow.3 + 4 1060 c.765A>C c.(763-765)GGA>GGC p.G255G C10orf28_uc001kox.3_Silent_p.G255G|C10orf28_uc001koy.3_Silent_p.G255G|C10orf28_uc009xvx.2_Silent_p.G255G|C10orf28_uc009xvy.2_Intron|C10orf28_uc001koz.3_Intron NM_014472 NP_055287 Q4KMY3 Q4KMY3_HUMAN growth inhibition and differentiation related 255 nucleotide binding large_intestine(1)|skin(1) 2 Colorectal(252;0.234) Epithelial(162;7.18e-11)|all cancers(201;8.75e-09) CATCAGATGGAATATTGAATC 0.393000 GSTO2 119391 broad.mit.edu 37 10 106058933 106058933 + Missense_Mutation SNP A A C TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chr10:106058933A>C uc001kyb.2 + 7 1251 c.623A>C c.(622-624)AAG>ACG p.K208T GSTO2_uc010qqx.1_Missense_Mutation_p.K174T|GSTO2_uc001kyc.2_Missense_Mutation_p.K180T|GSTO2_uc010qqy.1_Missense_Mutation_p.E110D NM_183239 NP_899062 Q9H4Y5 GSTO2_HUMAN glutathione S-transferase omega 2 208 GST C-terminal. water-soluble vitamin metabolic process|xenobiotic metabolic process cytosol glutathione transferase activity ovary(1)|central_nervous_system(1) 2 Colorectal(252;0.178) Epithelial(162;1.14e-09)|all cancers(201;3.89e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0155) Glutathione(DB00143) TCAGCCATGAAGTGGGACCCC 0.517000 TCF7L2 6934 broad.mit.edu 37 10 114710655 114710655 + Missense_Mutation SNP C C T TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chr10:114710655C>T uc001lae.3 + 1 647 c.140C>T c.(139-141)TCT>TTT p.S47F TCF7L2_uc001lac.3_Missense_Mutation_p.S47F|TCF7L2_uc010qrk.1_Missense_Mutation_p.S47F|TCF7L2_uc010qrl.1_Missense_Mutation_p.S47F|TCF7L2_uc010qrm.1_Missense_Mutation_p.S47F|TCF7L2_uc010qrn.1_Missense_Mutation_p.S47F|TCF7L2_uc001lad.3_Missense_Mutation_p.S47F|TCF7L2_uc001lag.3_Missense_Mutation_p.S47F|TCF7L2_uc001laf.3_Missense_Mutation_p.S47F|TCF7L2_uc010qro.1_Missense_Mutation_p.S47F|TCF7L2_uc001lah.2_Missense_Mutation_p.S47F|TCF7L2_uc010qrp.1_Missense_Mutation_p.S47F|TCF7L2_uc010qrq.1_Missense_Mutation_p.S47F|TCF7L2_uc010qrr.1_5'Flank|TCF7L2_uc010qrs.1_5'Flank|TCF7L2_uc010qrt.1_5'Flank NM_001146274 NP_001139746 Q9NQB0 TF7L2_HUMAN transcription factor 7-like 2 isoform 1 47 CTNNB1-binding (By similarity). anti-apoptosis|blood vessel development|canonical Wnt receptor signaling pathway involved in positive regulation of epithelial to mesenchymal transition|cell cycle arrest|cell proliferation|fat cell differentiation|glucose homeostasis|maintenance of DNA repeat elements|myoblast cell fate commitment|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|pancreas development|positive regulation of heparan sulfate proteoglycan biosynthetic process|positive regulation of insulin secretion|positive regulation of protein binding|positive regulation of protein export from nucleus|positive regulation of protein kinase B signaling cascade|positive regulation of transcription from RNA polymerase II promoter|regulation of hormone metabolic process|regulation of smooth muscle cell proliferation|response to glucose stimulus beta-catenin-TCF7L2 complex|PML body|protein-DNA complex armadillo repeat domain binding|beta-catenin binding|gamma-catenin binding|nuclear hormone receptor binding|protein kinase binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding large_intestine(3)|ovary(1) 4 Breast(234;0.058)|Colorectal(252;0.0615) Epithelial(162;0.00554)|all cancers(201;0.02) GTCAAATCGTCTCTAGTCAAT 0.498000 NHLRC2 374354 broad.mit.edu 37 10 115636359 115636359 + Silent SNP T T G TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chr10:115636359T>G uc001lax.1 + 3 623 c.411T>G c.(409-411)CTT>CTG p.L137L NM_198514 NP_940916 Q8NBF2 NHLC2_HUMAN NHL repeat containing 2 137 Thioredoxin. cell redox homeostasis ovary(1) 1 Epithelial(162;0.017)|all cancers(201;0.0187) GTGCTGTTCTTCGATACAACA 0.403000 ADRB1 153 broad.mit.edu 37 10 115804230 115804230 + Silent SNP G G A TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chr10:115804230G>A uc001lba.2 + 1 425 c.339G>A c.(337-339)CCG>CCA p.P113P NM_000684 NP_000675 P08588 ADRB1_HUMAN beta-1-adrenergic receptor 113 Helical; Name=2; (By similarity). positive regulation of cAMP biosynthetic process integral to plasma membrane alpha-2A adrenergic receptor binding|beta1-adrenergic receptor activity|protein heterodimerization activity 0 Colorectal(252;0.172)|Breast(234;0.188) Epithelial(162;0.0124)|all cancers(201;0.0298) Acebutolol(DB01193)|Alprenolol(DB00866)|Amiodarone(DB01118)|Arbutamine(DB01102)|Atenolol(DB00335)|Betaxolol(DB00195)|Bevantolol(DB01295)|Bisoprolol(DB00612)|Bretylium(DB01158)|Carteolol(DB00521)|Carvedilol(DB01136)|Desipramine(DB01151)|Dobutamine(DB00841)|Dopamine(DB00988)|Epinephrine(DB00668)|Esmolol(DB00187)|Isoetharine(DB00221)|Isoproterenol(DB01064)|Labetalol(DB00598)|Levobunolol(DB01210)|Metipranolol(DB01214)|Metoprolol(DB00264)|Nadolol(DB01203)|Norepinephrine(DB00368)|Oxprenolol(DB01580)|Penbutolol(DB01359)|Pindolol(DB00960)|Practolol(DB01297)|Propranolol(DB00571)|Risperidone(DB00734)|Timolol(DB00373)|Ziprasidone(DB00246) TGGTGGTGCCGTTCGGGGCCA 0.667000 PRAP1 118471 broad.mit.edu 37 10 135165920 135165920 + Silent SNP A A G TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chr10:135165920A>G uc001lmp.2 + 5 510 c.432A>G c.(430-432)CAA>CAG p.Q144Q PRAP1_uc001lmr.2_Silent_p.Q135Q|PRAP1_uc001lmq.1_Silent_p.Q116Q NM_145202 NP_660203 Q96NZ9 PRAP1_HUMAN proline-rich acidic protein 1 isoform 1 144 extracellular region 0 all_cancers(35;7.01e-07)|all_epithelial(44;1.45e-05)|Lung NSC(174;0.027)|all_lung(145;0.0384)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175) all cancers(32;7.08e-06)|OV - Ovarian serous cystadenocarcinoma(35;7.88e-06)|Epithelial(32;9.48e-06) AGGAAGACCAAGACCACATCT 0.672000 OR51A7 119687 broad.mit.edu 37 11 4928908 4928908 + Missense_Mutation SNP C C A rs142232152 byFrequency TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chr11:4928908C>A uc010qyq.1 + 1 309 c.309C>A c.(307-309)TTC>TTA p.F103L NM_001004749 NP_001004749 Q8NH64 O51A7_HUMAN olfactory receptor, family 51, subfamily A, 103 Helical; Name=3; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|skin(1) 2 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19) AAGAATTCTTCATTCATGGAT 0.438000 UBQLNL 143630 broad.mit.edu 37 11 5536993 5536993 + Nonsense_Mutation SNP C C A TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chr11:5536993C>A uc001maz.3 - 1 964 c.679G>T c.(679-681)GAG>TAG p.E227* HBG2_uc001mak.1_Intron NM_145053 NP_659490 Q8IYU4 UBQLN_HUMAN ubiquilin-like 227 large_intestine(2)|skin(1) 3 Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212) Epithelial(150;1.92e-09)|BRCA - Breast invasive adenocarcinoma(625;0.136) CTGGCCAGCTCCAGAGTCTGC 0.453000 DNHD1 144132 broad.mit.edu 37 11 6588890 6588890 + Missense_Mutation SNP T T C TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chr11:6588890T>C uc001mdw.3 + 36 12715 c.12151T>C c.(12151-12153)TGC>CGC p.C4051R DNHD1_uc001mea.3_Missense_Mutation_p.C320R|DNHD1_uc001meb.2_Missense_Mutation_p.C319R|DNHD1_uc001mec.2_Missense_Mutation_p.C319R|DNHD1_uc010rao.1_Missense_Mutation_p.C309R|DNHD1_uc009yfg.2_5'Flank NM_144666 NP_653267 Q96M86 DNHD1_HUMAN dynein heavy chain domain 1 isoform 1 4051 microtubule-based movement dynein complex microtubule motor activity ovary(2) 2 Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.171) Epithelial(150;3.93e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13) GCGACCTGAGTGCCTGGCAGG 0.612000 ST5 6764 broad.mit.edu 37 11 8732693 8732693 + Nonsense_Mutation SNP C C T TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chr11:8732693C>T uc001mgt.2 - 10 2444 c.2258G>A c.(2257-2259)TGG>TAG p.W753* ST5_uc009yfr.2_Nonsense_Mutation_p.W333*|ST5_uc001mgu.2_Nonsense_Mutation_p.W333*|ST5_uc001mgv.2_Nonsense_Mutation_p.W753*|ST5_uc010rbq.1_RNA|ST5_uc010rbp.1_Nonsense_Mutation_p.W266*|ST5_uc009yfs.2_RNA NM_213618 NP_998783 P78524 ST5_HUMAN suppression of tumorigenicity 5 isoform 1 753 UDENN. positive regulation of ERK1 and ERK2 cascade protein binding upper_aerodigestive_tract(1) 1 Epithelial(150;2.63e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0352) CACAGGAAGCCAGTCCTTGGC 0.592000 MICAL2 9645 broad.mit.edu 37 11 12262590 12262590 + Missense_Mutation SNP C C T TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chr11:12262590C>T uc001mjz.2 + 18 2506 c.2218C>T c.(2218-2220)CGC>TGC p.R740C MICAL2_uc010rch.1_Intron|MICAL2_uc001mka.2_Missense_Mutation_p.R740C|MICAL2_uc010rci.1_Missense_Mutation_p.R740C|MICAL2_uc001mkb.2_Intron|MICAL2_uc001mkc.2_Intron|MICAL2_uc001mkd.2_Intron|MICAL2_uc010rcj.1_Intron|MICAL2_uc001mkf.2_RNA NM_014632 NP_055447 O94851 MICA2_HUMAN microtubule associated monoxygenase, calponin 740 cytoplasm|cytoskeleton monooxygenase activity|zinc ion binding upper_aerodigestive_tract(2) 2 Epithelial(150;0.00552) CTCCCAGGAACGCCGTGTCTC 0.577000 MICALCL 84953 broad.mit.edu 37 11 12345546 12345546 + Silent SNP A A C TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chr11:12345546A>C uc001mkg.1 + 5 1855 c.1564A>C c.(1564-1566)AGA>CGA p.R522R NM_032867 NP_116256 Q6ZW33 MICLK_HUMAN MICAL C-terminal like 522 Potential. cell differentiation|multicellular organismal development|spermatogenesis cytoplasm mitogen-activated protein kinase binding skin(1) 1 Epithelial(150;0.00177) ACTTAGAAGAAGAAAGAAGCT 0.338000 SAAL1 113174 broad.mit.edu 37 11 18124847 18124847 + Missense_Mutation SNP T T C TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chr11:18124847T>C uc001mnq.2 - 2 232 c.182A>G c.(181-183)CAG>CGG p.Q61R SAAL1_uc001mnr.2_Missense_Mutation_p.Q61R|SAAL1_uc001mns.2_RNA|SAAL1_uc009yhf.2_Missense_Mutation_p.Q61R NM_138421 NP_612430 Q96ER3 SAAL1_HUMAN serum amyloid A-like 1 61 acute-phase response extracellular region binding 0 CTCCGTCAGCTGCTCCTCATC 0.388000 PRMT3 10196 broad.mit.edu 37 11 20473684 20473684 + Missense_Mutation SNP T T A TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chr11:20473684T>A uc001mqb.2 + 11 1219 c.1002T>A c.(1000-1002)TTT>TTA p.F334L PRMT3_uc001mqc.2_Missense_Mutation_p.F257L|PRMT3_uc010rdn.1_Missense_Mutation_p.F272L NM_005788 NP_005779 O60678 ANM3_HUMAN protein arginine methyltransferase 3 isoform 1 334 zinc ion binding 0 AGGGCTATTTTCTTCTGTTTG 0.338000 ANO5 203859 broad.mit.edu 37 11 22301112 22301112 + Missense_Mutation SNP T T G TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chr11:22301112T>G uc001mqi.2 + 22 2860 c.2543T>G c.(2542-2544)TTT>TGT p.F848C ANO5_uc001mqj.2_Missense_Mutation_p.F847C NM_213599 NP_998764 Q75V66 ANO5_HUMAN anoctamin 5 isoform a 848 Helical; (Potential). chloride channel complex|endoplasmic reticulum membrane chloride channel activity central_nervous_system(3)|ovary(1) 4 TTAGTTAAATTTTTGCTGGCC 0.363000 PAMR1 25891 broad.mit.edu 37 11 35454104 35454104 + Missense_Mutation SNP T T G TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chr11:35454104T>G uc001mwg.2 - 11 2006 c.1963A>C c.(1963-1965)ACT>CCT p.T655P PAMR1_uc001mwf.2_Missense_Mutation_p.T672P|PAMR1_uc010rew.1_Missense_Mutation_p.T544P|PAMR1_uc010rex.1_Missense_Mutation_p.T615P NM_001001991 NP_001001991 Q6UXH9 PAMR1_HUMAN regeneration associated muscle protease isoform 655 Peptidase S1. proteolysis extracellular region serine-type endopeptidase activity ovary(2) 2 GAAGGGGCAGTGGGTTCCCAG 0.587000 OR5T3 390154 broad.mit.edu 37 11 56019824 56019824 + Missense_Mutation SNP A A C TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chr11:56019824A>C uc010rjd.1 + 1 149 c.149A>C c.(148-150)GAT>GCT p.D50A NM_001004747 NP_001004747 Q8NGG3 OR5T3_HUMAN olfactory receptor, family 5, subfamily T, 50 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 Esophageal squamous(21;0.00448) TTCACAGATGATTTTGAGCTG 0.378000 GLYAT 10249 broad.mit.edu 37 11 58480280 58480280 + Missense_Mutation SNP A A G TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chr11:58480280A>G uc001nnb.2 - 4 424 c.269T>C c.(268-270)CTT>CCT p.L90P GLYAT_uc001nnc.2_Missense_Mutation_p.L90P NM_201648 NP_964011 Q6IB77 GLYAT_HUMAN glycine-N-acyltransferase isoform a 90 acyl-CoA metabolic process|response to toxin|xenobiotic metabolic process mitochondrial matrix glycine N-acyltransferase activity|glycine N-benzoyltransferase activity 0 Breast(21;0.0044)|all_epithelial(135;0.0157) Glycine(DB00145) TGGTGATCCAAGGAATTCCTG 0.398000 GLYATL1 92292 broad.mit.edu 37 11 58723472 58723472 + Missense_Mutation SNP G G A TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chr11:58723472G>A uc001nnf.2 + 8 1257 c.881G>A c.(880-882)TGC>TAC p.C294Y uc001nng.1_Intron|GLYATL1_uc001nnh.1_Missense_Mutation_p.C325Y|GLYATL1_uc001nni.1_Missense_Mutation_p.C294Y|GLYATL1_uc001nnj.1_Missense_Mutation_p.C294Y Q969I3 GLYL1_HUMAN SubName: Full=Glycine acyltransferase family-C; SubName: Full=Glycine-N-acyltransferase-like 1, isoform CRA_a; 294 mitochondrion glycine N-acyltransferase activity ovary(1) 1 Glycine(DB00145) CAATGGACTTGCTACCCACAG 0.423000 OR5A1 219982 broad.mit.edu 37 11 59211523 59211523 + Silent SNP T T C TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chr11:59211523T>C uc001nnx.1 + 1 882 c.882T>C c.(880-882)AGT>AGC p.S294S NM_001004728 NP_001004728 Q8NGJ0 OR5A1_HUMAN olfactory receptor, family 5, subfamily A, 294 Helical; Name=7; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|central_nervous_system(1) 2 TCATTTACAGTTTGAGGAACA 0.453000 RAB3IL1 5866 broad.mit.edu 37 11 61675527 61675527 + Missense_Mutation SNP T T G TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chr11:61675527T>G uc001nso.2 - 2 421 c.263A>C c.(262-264)AAG>ACG p.K88T RAB3IL1_uc001nsp.2_Missense_Mutation_p.K135T NM_013401 NP_037533 Q8TBN0 R3GEF_HUMAN RAB3A interacting protein (rabin3)-like 1 88 Potential. protein binding skin(2)|central_nervous_system(1) 3 GGCACCCACCTTCTGCGCTCT 0.637000 AHNAK 79026 broad.mit.edu 37 11 62289401 62289401 + Missense_Mutation SNP A A C TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chr11:62289401A>C uc001ntl.2 - 5 12788 c.12488T>G c.(12487-12489)GTT>GGT p.V4163G AHNAK_uc001ntk.1_Intron NM_001620 NP_001611 Q09666 AHNK_HUMAN AHNAK nucleoprotein isoform 1 4163 nervous system development nucleus protein binding ovary(10)|pancreas(4)|skin(4)|upper_aerodigestive_tract(1) 19 Melanoma(852;0.155) CTTGATGTCAACTTCAGGGCC 0.507000 AHNAK 79026 broad.mit.edu 37 11 62298592 62298592 + Silent SNP T T A TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chr11:62298592T>A uc001ntl.2 - 5 3597 c.3297A>T c.(3295-3297)CCA>CCT p.P1099P AHNAK_uc001ntk.1_Intron NM_001620 NP_001611 Q09666 AHNK_HUMAN AHNAK nucleoprotein isoform 1 1099 nervous system development nucleus protein binding ovary(10)|pancreas(4)|skin(4)|upper_aerodigestive_tract(1) 19 Melanoma(852;0.155) TGTCCACATCTGGAACCTGCA 0.453000 EML3 256364 broad.mit.edu 37 11 62376884 62376884 + Missense_Mutation SNP G G A TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chr11:62376884G>A uc001ntu.1 - 6 1008 c.700C>T c.(700-702)CGC>TGC p.R234C EML3_uc001ntr.1_Missense_Mutation_p.R206C|EML3_uc001nts.1_Missense_Mutation_p.R206C|EML3_uc001ntt.1_Missense_Mutation_p.R118C|EML3_uc010rly.1_Missense_Mutation_p.R234C|EML3_uc009yny.1_Missense_Mutation_p.R17C NM_153265 NP_694997 Q32P44 EMAL3_HUMAN echinoderm microtubule associated protein like 234 cytoplasm|microtubule protein binding ovary(1) 1 TCAAGGCTGCGGATGCCAGAC 0.577000 RTN3 10313 broad.mit.edu 37 11 63521149 63521149 + Missense_Mutation SNP T T G TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chr11:63521149T>G uc001nxq.2 + 7 3150 c.2963T>G c.(2962-2964)TTC>TGC p.F988C RTN3_uc001nxo.2_Missense_Mutation_p.F192C|RTN3_uc001nxm.2_Missense_Mutation_p.F211C|RTN3_uc001nxn.2_Missense_Mutation_p.F969C|RTN3_uc001nxp.2_Missense_Mutation_p.F192C|RTN3_uc009yov.2_Missense_Mutation_p.F876C|RTN3_uc010rmt.1_RNA|RTN3_uc010rmu.1_Intron NM_201428 NP_958831 O95197 RTN3_HUMAN reticulon 3 isoform b 988 Helical; (Potential).|Interaction with FADD.|Reticulon. apoptosis|endoplasmic reticulum tubular network organization|interspecies interaction between organisms|response to stress|vesicle-mediated transport endoplasmic reticulum membrane|extracellular space|Golgi membrane|integral to membrane ovary(1) 1 CTGCTCATTTTCAGTGTCCCG 0.378000 SF1 7536 broad.mit.edu 37 11 64536752 64536752 + Missense_Mutation SNP T T G TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chr11:64536752T>G uc001obb.1 - 7 1099 c.722A>C c.(721-723)AAG>ACG p.K241T SF1_uc010rnm.1_5'Flank|SF1_uc010rnn.1_Missense_Mutation_p.K215T|SF1_uc001oaz.1_Missense_Mutation_p.K366T|SF1_uc001oba.1_Missense_Mutation_p.K241T|SF1_uc001obc.1_Missense_Mutation_p.K241T|SF1_uc001obd.1_Missense_Mutation_p.K241T|SF1_uc001obe.1_Missense_Mutation_p.K126T|SF1_uc010rno.1_Missense_Mutation_p.K126T NM_004630 NP_004621 Q15637 SF01_HUMAN splicing factor 1 isoform 1 241 nuclear mRNA 3'-splice site recognition|regulation of transcription, DNA-dependent|transcription, DNA-dependent ribosome|spliceosomal complex protein binding|RNA binding|transcription corepressor activity|zinc ion binding ovary(1)|breast(1)|skin(1) 3 AAGCTGCATCTTCCGTAGATC 0.473000 PPP2R5B 5526 broad.mit.edu 37 11 64694201 64694201 + Silent SNP C C T TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chr11:64694201C>T uc001oby.2 + 3 802 c.217C>T c.(217-219)CTG>TTG p.L73L PPP2R5B_uc001obz.2_Silent_p.L73L NM_006244 NP_006235 Q15173 2A5B_HUMAN beta isoform of regulatory subunit B56, protein 73 signal transduction cytoplasm|protein phosphatase type 2A complex protein binding|protein phosphatase type 2A regulator activity ovary(2) 2 GGCTTCCGAGCTGCACGAGCT 0.662000 B3GNT1 11041 broad.mit.edu 37 11 66113606 66113606 + Missense_Mutation SNP C C T TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chr11:66113606C>T uc001ohr.2 - 2 1307 c.1162G>A c.(1162-1164)GCT>ACT p.A388T BRMS1_uc001ohp.1_5'Flank|BRMS1_uc001oho.1_5'Flank NM_006876 NP_006867 O43505 B3GN1_HUMAN UDP-GlcNAc:betaGal 388 Lumenal (Potential). poly-N-acetyllactosamine biosynthetic process integral to Golgi membrane N-acetyllactosaminide beta-1,3-N-acetylglucosaminyltransferase activity 0 TGATTTTCAGCCTCCTTTTGG 0.512000 PC 5091 broad.mit.edu 37 11 66617526 66617526 + Missense_Mutation SNP C C T TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chr11:66617526C>T uc001ojn.1 - 18 2829 c.2780G>A c.(2779-2781)AGC>AAC p.S927N PC_uc001ojo.1_Missense_Mutation_p.S927N|PC_uc001ojp.1_Missense_Mutation_p.S927N|PC_uc001ojm.1_5'Flank NM_022172 NP_071504 P11498 PYC_HUMAN pyruvate carboxylase precursor 927 gluconeogenesis|lipid biosynthetic process mitochondrial matrix ATP binding|biotin binding|biotin carboxylase activity|metal ion binding|pyruvate carboxylase activity ovary(2)|lung(1)|kidney(1) 4 Melanoma(852;0.0525) Lung(977;0.153)|LUSC - Lung squamous cell carcinoma(976;0.227) Biotin(DB00121)|Pyruvic acid(DB00119) CTCTGCCCGGCTCAATCCATT 0.642000 KRTAP5-8 57830 broad.mit.edu 37 11 71249236 71249236 + Missense_Mutation SNP T T G TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chr11:71249236T>G uc001oqr.1 + 1 166 c.135T>G c.(133-135)TGT>TGG p.C45W NM_021046 NP_066384 O75690 KRA58_HUMAN keratin associated protein 5-8 45 9 X 4 AA repeats of C-C-X-P. extracellular region|keratin filament structural constituent of epidermis 0 TGCCAGCCTGTTCCTGCTCCA 0.692000 KRTAP5-9 3846 broad.mit.edu 37 11 71259851 71259851 + Missense_Mutation SNP C C A TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chr11:71259851C>A uc001oqs.1 + 1 386 c.148C>A c.(148-150)CCA>ACA p.P50T NM_005553 NP_005544 P26371 KRA59_HUMAN keratin associated protein 5-9 50 3.|8 X 4 AA repeats of C-C-X-P. epidermis development keratin filament 0 CTGCTGTGTTCCAGCCTGTTC 0.647000 INPPL1 3636 broad.mit.edu 37 11 71939801 71939801 + Missense_Mutation SNP C C T TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chr11:71939801C>T uc001osf.2 + 4 575 c.428C>T c.(427-429)CCG>CTG p.P143L INPPL1_uc001osg.2_5'UTR NM_001567 NP_001558 O15357 SHIP2_HUMAN inositol polyphosphate phosphatase-like 1 143 actin filament organization|cell adhesion|endocytosis actin cortical patch|cytosol actin binding|SH2 domain binding|SH3 domain binding skin(2)|ovary(1)|breast(1) 4 CCGCTGCCCCCGCGCTCTGGC 0.672000 KCTD14 65987 broad.mit.edu 37 11 77727862 77727862 + Missense_Mutation SNP T T C TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chr11:77727862T>C uc001oyw.3 - 2 570 c.545A>G c.(544-546)TAT>TGT p.Y182C NM_023930 NP_076419 Q9BQ13 KCD14_HUMAN potassium channel tetramerisation domain 182 voltage-gated potassium channel complex voltage-gated potassium channel activity ovary(2) 2 all_cancers(14;4.53e-19)|all_epithelial(13;1.73e-21)|Breast(9;2.71e-16)|Ovarian(111;0.152) OV - Ovarian serous cystadenocarcinoma(8;1e-24) GACCTCTGAATAATATGCATC 0.532000 NOX4 50507 broad.mit.edu 37 11 89073338 89073338 + Missense_Mutation SNP C C A rs55696571 TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chr11:89073338C>A uc001pct.2 - 15 1578 c.1339G>T c.(1339-1341)GAT>TAT p.D447Y NOX4_uc009yvr.2_Missense_Mutation_p.D422Y|NOX4_uc001pcu.2_Missense_Mutation_p.D373Y|NOX4_uc001pcw.2_Missense_Mutation_p.D140Y|NOX4_uc001pcx.2_Missense_Mutation_p.D100Y|NOX4_uc001pcv.2_Missense_Mutation_p.D407Y|NOX4_uc009yvo.2_RNA|NOX4_uc010rtu.1_Missense_Mutation_p.D281Y|NOX4_uc009yvp.2_Missense_Mutation_p.D211Y|NOX4_uc010rtv.1_Missense_Mutation_p.D383Y|NOX4_uc009yvq.2_Missense_Mutation_p.D423Y NM_016931 NP_058627 Q9NPH5 NOX4_HUMAN NADPH oxidase 4 isoform a 447 Cytoplasmic (Potential).|Mediates interaction with TLR4. cell aging|cell morphogenesis|inflammatory response|negative regulation of cell proliferation|superoxide anion generation endoplasmic reticulum membrane|focal adhesion|integral to membrane|nucleus electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|nucleotide binding|oxygen sensor activity ovary(1)|central_nervous_system(1) 2 Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.011) TTCCAGTCATCCCTTTAAAAT 0.328000 AMOTL1 154810 broad.mit.edu 37 11 94528193 94528193 + Silent SNP T T C rs138638061 by1000genomes TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chr11:94528193T>C uc001pfb.2 + 2 236 c.66T>C c.(64-66)TGT>TGC p.C22C AMOTL1_uc001pfc.2_Intron NM_130847 NP_570899 Q8IY63 AMOL1_HUMAN angiomotin like 1 22 cytoplasm|tight junction identical protein binding ovary(1)|breast(1) 2 Acute lymphoblastic leukemia(157;2.38e-05)|all_hematologic(158;0.00824) CTTCTGCTTGTTATAGCCCCA 0.507000 FAM76B 143684 broad.mit.edu 37 11 95516419 95516419 + Missense_Mutation SNP T T G TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chr11:95516419T>G uc001pfn.2 - 5 685 c.373A>C c.(373-375)AAG>CAG p.K125Q FAM76B_uc001pfm.2_RNA NM_144664 NP_653265 Q5HYJ3 FA76B_HUMAN hypothetical protein LOC143684 125 0 Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824) CATAATAACTTTCCATCAACC 0.348000 JRKL 8690 broad.mit.edu 37 11 96125232 96125232 + Silent SNP G G A TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chr11:96125232G>A uc009ywu.2 + 2 1671 c.1419G>A c.(1417-1419)GAG>GAA p.E473E CCDC82_uc001pfx.3_5'Flank|CCDC82_uc009ywr.2_5'Flank|CCDC82_uc009ywt.1_5'Flank|JRKL_uc001pfy.2_Silent_p.E473E NM_003772 NP_003763 Q9Y4A0 JERKL_HUMAN jerky homolog-like 473 central nervous system development|regulation of transcription, DNA-dependent chromosome, centromeric region|nucleus DNA binding 0 Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824) BRCA - Breast invasive adenocarcinoma(274;0.148) TAATTCCAGAGAAACATATTA 0.393000 DYNC2H1 79659 broad.mit.edu 37 11 102984309 102984309 + Missense_Mutation SNP A A G TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chr11:102984309A>G uc001pho.2 + 2 383 c.239A>G c.(238-240)AAG>AGG p.K80R DYNC2H1_uc001phn.1_Missense_Mutation_p.K80R|DYNC2H1_uc009yxe.1_Missense_Mutation_p.K80R NM_001080463 NP_001073932 Q8NCM8 DYHC2_HUMAN dynein, cytoplasmic 2, heavy chain 1 80 Stem (By similarity). cell projection organization|Golgi organization|microtubule-based movement|multicellular organismal development cilium axoneme|dynein complex|Golgi apparatus|microtubule|plasma membrane ATP binding|ATPase activity|microtubule motor activity 0 Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348) BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785) GTGTTTTTCAAGCTGCGACCT 0.303000 DYNC2H1 79659 broad.mit.edu 37 11 102984404 102984404 + Missense_Mutation SNP G G A TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chr11:102984404G>A uc001pho.2 + 2 478 c.334G>A c.(334-336)GTA>ATA p.V112I DYNC2H1_uc001phn.1_Missense_Mutation_p.V112I|DYNC2H1_uc009yxe.1_Missense_Mutation_p.V112I NM_001080463 NP_001073932 Q8NCM8 DYHC2_HUMAN dynein, cytoplasmic 2, heavy chain 1 112 Stem (By similarity). cell projection organization|Golgi organization|microtubule-based movement|multicellular organismal development cilium axoneme|dynein complex|Golgi apparatus|microtubule|plasma membrane ATP binding|ATPase activity|microtubule motor activity 0 Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348) BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785) TTACCAAGCAGTACGGCAAGT 0.328000 PDGFD 80310 broad.mit.edu 37 11 103814315 103814315 + Missense_Mutation SNP T T G TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chr11:103814315T>G uc001phq.2 - 5 1009 c.637A>C c.(637-639)AAA>CAA p.K213Q PDGFD_uc001php.2_Missense_Mutation_p.K207Q NM_025208 NP_079484 Q9GZP0 PDGFD_HUMAN platelet derived growth factor D isoform 1 213 positive regulation of cell division endoplasmic reticulum lumen|extracellular region|Golgi membrane growth factor activity upper_aerodigestive_tract(1)|large_intestine(1) 2 Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Melanoma(852;0.0563)|all_neural(303;0.165) BRCA - Breast invasive adenocarcinoma(274;0.00136)|Epithelial(105;0.111) TCTGCAATTTTTTTGTCCAGA 0.433000 ARHGAP20 57569 broad.mit.edu 37 11 110462822 110462822 + Missense_Mutation SNP C C T TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chr11:110462822C>T uc001pkz.1 - 11 1307 c.1022G>A c.(1021-1023)CGA>CAA p.R341Q ARHGAP20_uc001pky.1_Missense_Mutation_p.R318Q|ARHGAP20_uc009yyb.1_Missense_Mutation_p.R305Q|ARHGAP20_uc001pla.1_Missense_Mutation_p.R305Q|ARHGAP20_uc001plb.2_5'Flank NM_020809 NP_065860 Q9P2F6 RHG20_HUMAN Rho GTPase activating protein 20 341 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity ovary(3)|kidney(2) 5 all_cancers(61;3.26e-12)|all_epithelial(67;6.09e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;0.000484)|Acute lymphoblastic leukemia(157;0.000967)|all_neural(223;0.0199)|Medulloblastoma(222;0.0425)|Breast(348;0.0544) Epithelial(105;3.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|all cancers(92;0.000147)|OV - Ovarian serous cystadenocarcinoma(223;0.0475) GCTAGAACCTCGCCAGAAGGC 0.418000 BCO2 83875 broad.mit.edu 37 11 112065392 112065392 + Missense_Mutation SNP T T G TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chr11:112065392T>G uc001pnf.2 + 5 767 c.650T>G c.(649-651)TTT>TGT p.F217C BCO2_uc001pne.1_Missense_Mutation_p.F44C|BCO2_uc001png.2_Intron|BCO2_uc001pnh.2_Missense_Mutation_p.F183C|BCO2_uc010rwt.1_Missense_Mutation_p.F112C|BCO2_uc009yyn.2_Missense_Mutation_p.F183C|BCO2_uc001pni.2_Missense_Mutation_p.F183C NM_031938 NP_114144 Q9BYV7 BCDO2_HUMAN beta-carotene dioxygenase 2 isoform a 217 carotene metabolic process|retinal metabolic process|retinoic acid metabolic process metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen 0 TGGAGCAAATTTATTGCTGTG 0.373000 FAM55D 54827 broad.mit.edu 37 11 114453400 114453400 + Missense_Mutation SNP A A G TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chr11:114453400A>G uc001ppc.2 - 3 621 c.440T>C c.(439-441)CTG>CCG p.L147P FAM55D_uc001ppd.2_Intron NM_001077639 NP_001071107 Q6UWF7 FA55D_HUMAN hypothetical protein LOC54827 isoform 1 147 extracellular region ovary(2)|skin(2) 4 all_cancers(61;8.53e-16)|all_epithelial(67;1.71e-08)|all_hematologic(158;3.05e-05)|Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0194)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0906) BRCA - Breast invasive adenocarcinoma(274;2.82e-06)|Epithelial(105;0.000129)|all cancers(92;0.000938) ACCTGCCATCAGCGCTGGGGA 0.587000 C2CD2L 9854 broad.mit.edu 37 11 118981567 118981567 + Missense_Mutation SNP A A C TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chr11:118981567A>C uc001pvo.2 + 4 940 c.581A>C c.(580-582)AAC>ACC p.N194T DPAGT1_uc010ryz.1_5'Flank|C2CD2L_uc001pvn.2_Missense_Mutation_p.N194T NM_014807 NP_055622 O14523 C2C2L_HUMAN transmembrane protein 24 194 integral to membrane 0 TTGGAAGTCAACCTGGAGGAA 0.547000 GRIK4 2900 broad.mit.edu 37 11 120673464 120673464 + Missense_Mutation SNP A A G TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chr11:120673464A>G uc001pxn.2 + 4 432 c.145A>G c.(145-147)AAG>GAG p.K49E GRIK4_uc009zav.1_Missense_Mutation_p.K49E|GRIK4_uc009zaw.1_Missense_Mutation_p.K49E|GRIK4_uc009zax.1_Missense_Mutation_p.K49E NM_014619 NP_055434 Q16099 GRIK4_HUMAN glutamate receptor KA1 precursor 49 Extracellular (Potential). glutamate signaling pathway|synaptic transmission cell junction|postsynaptic membrane extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity ovary(2)|central_nervous_system(1) 3 Breast(109;0.000868)|Medulloblastoma(222;0.0453)|all_neural(223;0.116)|all_hematologic(192;0.21) BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.116) L-Glutamic Acid(DB00142) CACCCTGGCCAAGAACCGCAT 0.582000 OREG0021427 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) TBCEL 219899 broad.mit.edu 37 11 120916421 120916421 + Missense_Mutation SNP A A C TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chr11:120916421A>C uc009zay.2 + 2 100 c.22A>C c.(22-24)AGT>CGT p.S8R TBCEL_uc001pxo.2_Missense_Mutation_p.S8R|TBCEL_uc001pxp.2_5'UTR|TBCEL_uc001pxq.2_RNA NM_001130047 NP_001123519 Q5QJ74 TBCEL_HUMAN tubulin folding cofactor E-like 8 cytoplasm|cytoskeleton skin(1) 1 Breast(109;0.00526)|Medulloblastoma(222;0.0523)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;5.89e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.121) TAGTGGAAGAAGTTTCATGCA 0.353000 CHEK1 1111 broad.mit.edu 37 11 125513723 125513723 + Missense_Mutation SNP C C T TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chr11:125513723C>T uc009zbo.2 + 9 1743 c.851C>T c.(850-852)TCA>TTA p.S284L CHEK1_uc010sbh.1_Missense_Mutation_p.S300L|CHEK1_uc010sbi.1_Missense_Mutation_p.S284L|CHEK1_uc001qcf.3_Missense_Mutation_p.S284L|CHEK1_uc009zbp.2_Missense_Mutation_p.S284L|CHEK1_uc001qcg.3_Missense_Mutation_p.S284L|CHEK1_uc009zbq.2_Missense_Mutation_p.S284L|CHEK1_uc001qci.1_RNA|CHEK1_uc001qcj.2_5'Flank NM_001114122 NP_001107594 O14757 CHK1_HUMAN checkpoint kinase 1 284 cellular response to mechanical stimulus|DNA repair|DNA replication|gamete generation|negative regulation of cell proliferation|reciprocal meiotic recombination|regulation of cyclin-dependent protein kinase activity|replicative senescence condensed nuclear chromosome|microtubule organizing center|nucleoplasm ATP binding|protein binding|protein serine/threonine kinase activity central_nervous_system(3)|lung(2)|skin(1) 6 all_hematologic(175;0.228) Breast(109;0.0021)|Lung NSC(97;0.0126)|all_lung(97;0.0132)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0748) GGTGGTGTGTCAGAGTCTCCC 0.378000 Other_conserved_DNA_damage_response_genes CDON 50937 broad.mit.edu 37 11 125864268 125864268 + Missense_Mutation SNP T T A TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chr11:125864268T>A uc009zbw.2 - 14 2689 c.2561A>T c.(2560-2562)AAC>ATC p.N854I CDON_uc001qdb.3_Missense_Mutation_p.N231I|CDON_uc001qdc.3_Missense_Mutation_p.N854I NM_016952 NP_058648 Q4KMG0 CDON_HUMAN surface glycoprotein, Ig superfamily member 854 Extracellular (Potential).|Fibronectin type-III 3. cell adhesion|muscle cell differentiation|positive regulation of muscle cell differentiation integral to membrane|plasma membrane protein binding ovary(3)|skin(2)|breast(1) 6 all_hematologic(175;0.177) Breast(109;0.00157)|Lung NSC(97;0.0127)|all_lung(97;0.0133)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;1.51e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0604) AGTGTTATTGTTACTTGATGG 0.343000 KDM5A 5927 broad.mit.edu 37 12 401986 401986 + Missense_Mutation SNP T T C TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chr12:401986T>C uc001qif.1 - 27 5168 c.4805A>G c.(4804-4806)GAG>GGG p.E1602G KDM5A_uc001qie.1_Missense_Mutation_p.E1607G NM_001042603 NP_001036068 P29375 KDM5A_HUMAN retinoblastoma binding protein 2 isoform 1 1602 chromatin modification|multicellular organismal development|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter cytoplasm|nucleolus DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|sequence-specific DNA binding transcription factor activity|zinc ion binding skin(2)|ovary(1) 3 ATCATCAGACTCCTCTGCTCC 0.478000 T NUP98 AML ITFG2 55846 broad.mit.edu 37 12 2929369 2929369 + Missense_Mutation SNP A A C TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chr12:2929369A>C uc001qlb.1 + 5 588 c.524A>C c.(523-525)AAG>ACG p.K175T ITFG2_uc010seb.1_5'UTR|ITFG2_uc010sec.1_RNA NM_018463 NP_060933 Q969R8 ITFG2_HUMAN integrin alpha FG-GAP repeat containing 2 175 0 OV - Ovarian serous cystadenocarcinoma(31;0.000818) GTGTCCCTCAAGAAATGGATG 0.602000 GRIN2B 2904 broad.mit.edu 37 12 13717464 13717464 + Missense_Mutation SNP C C T TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chr12:13717464C>T uc001rbt.2 - 13 2887 c.2708G>A c.(2707-2709)CGC>CAC p.R903H NM_000834 NP_000825 Q13224 NMDE2_HUMAN N-methyl-D-aspartate receptor subunit 2B 903 Cytoplasmic (Potential). response to ethanol cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding central_nervous_system(4)|ovary(3)|skin(3)|lung(2) 12 Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043) CTTGGCCGTGCGCAGCAGGCG 0.582000 PIK3C2G 5288 broad.mit.edu 37 12 18691172 18691172 + Missense_Mutation SNP T T G TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chr12:18691172T>G uc001rdt.2 + 24 3399 c.3283T>G c.(3283-3285)TTT>GTT p.F1095V PIK3C2G_uc010sia.1_RNA|PIK3C2G_uc010sib.1_Missense_Mutation_p.F1136V|PIK3C2G_uc010sic.1_Missense_Mutation_p.F914V NM_004570 NP_004561 O75747 P3C2G_HUMAN phosphoinositide-3-kinase, class 2 gamma 1095 PI3K/PI4K. cell communication|phosphatidylinositol-mediated signaling membrane|phosphatidylinositol 3-kinase complex 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity lung(8)|central_nervous_system(6)|breast(3)|stomach(2)|ovary(2) 21 Hepatocellular(102;0.194) TTTTCAAGATTTTGTGGAACT 0.393000 KCNJ8 3764 broad.mit.edu 37 12 21918912 21918912 + Silent SNP G G T TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chr12:21918912G>T uc001rff.2 - 3 1358 c.1020C>A c.(1018-1020)TCC>TCA p.S340S NM_004982 NP_004973 Q15842 IRK8_HUMAN potassium inwardly-rectifying channel J8 340 Cytoplasmic (By similarity). voltage-gated potassium channel complex 0 Levosimendan(DB00922) TGCCAAATTTGGAGTAATCCA 0.493000 ITPR2 3709 broad.mit.edu 37 12 26875410 26875410 + Missense_Mutation SNP C C T TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chr12:26875410C>T uc001rhg.2 - 5 862 c.445G>A c.(445-447)GTG>ATG p.V149M ITPR2_uc001rhh.1_Missense_Mutation_p.V87M|ITPR2_uc001rhi.1_Missense_Mutation_p.V149M NM_002223 NP_002214 Q14571 ITPR2_HUMAN inositol 1,4,5-triphosphate receptor, type 2 149 MIR 1.|Cytoplasmic (Potential). activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity kidney(6)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)|lung(1) 14 Colorectal(261;0.0847) TCCAAGGACACACGCATGGCA 0.383000 FGD4 121512 broad.mit.edu 37 12 32791654 32791654 + Silent SNP A A C TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chr12:32791654A>C uc001rkz.2 + 16 2445 c.1968A>C c.(1966-1968)TCA>TCC p.S656S FGD4_uc001rlc.2_Silent_p.S741S|FGD4_uc001rky.2_Silent_p.S408S|FGD4_uc001rla.2_Silent_p.S312S|FGD4_uc010ske.1_Silent_p.S768S|FGD4_uc001rlb.1_RNA NM_139241 NP_640334 Q96M96 FGD4_HUMAN FYVE, RhoGEF and PH domain containing 4 656 PH 2. actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction cytoskeleton|cytosol|filopodium|Golgi apparatus|lamellipodium|ruffle metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding ovary(2)|central_nervous_system(1) 3 Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204) TGGAGAAGTCAAAACCTTGGC 0.433000 SFRS2IP 9169 broad.mit.edu 37 12 46320310 46320310 + Silent SNP A A G TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chr12:46320310A>G uc001rox.2 - 11 3461 c.3174T>C c.(3172-3174)TCT>TCC p.S1058S SFRS2IP_uc001row.2_Silent_p.S743S|SFRS2IP_uc001roy.1_Silent_p.S1132S NM_004719 NP_004710 Q99590 SCAFB_HUMAN splicing factor, arginine/serine-rich 2, 1058 spliceosome assembly nucleus protein binding|zinc ion binding 0 Lung SC(27;0.192)|Renal(347;0.236) Lung NSC(34;0.209) OV - Ovarian serous cystadenocarcinoma(5;0.00691) GBM - Glioblastoma multiforme(48;0.1) TTTTATTCCAAGAATTTCCTG 0.398000 LACRT 90070 broad.mit.edu 37 12 55026976 55026976 + Missense_Mutation SNP C C T TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chr12:55026976C>T uc001sgi.1 - 2 138 c.100G>A c.(100-102)GAA>AAA p.E34K NM_033277 NP_150593 Q9GZZ8 LACRT_HUMAN lacritin precursor 34 calcineurin-NFAT signaling pathway|positive regulation of epithelial cell proliferation|positive regulation of NFAT protein import into nucleus|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of release of sequestered calcium ion into cytosol|positive regulation of secretion|protein localization in Golgi apparatus|tear secretion extracellular region|stored secretory granule collagen binding|fibronectin binding|glycoprotein binding|growth factor activity|laminin-1 binding|protein N-terminus binding central_nervous_system(1) 1 GTCCCAGCTTCCTGGGCAGGA 0.582000 OR6C4 341418 broad.mit.edu 37 12 55945482 55945482 + Missense_Mutation SNP A A C TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chr12:55945482A>C uc010spp.1 + 1 472 c.472A>C c.(472-474)ATC>CTC p.I158L NM_001005494 NP_001005494 Q8NGE1 OR6C4_HUMAN olfactory receptor, family 6, subfamily C, 158 Helical; Name=4; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 CTTACCACCAATCATCCTGAT 0.478000 ESYT1 23344 broad.mit.edu 37 12 56530645 56530645 + Missense_Mutation SNP A A C TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chr12:56530645A>C uc001sjq.2 + 16 1800 c.1750A>C c.(1750-1752)AAC>CAC p.N584H ESYT1_uc001sjr.2_Missense_Mutation_p.N594H NM_015292 NP_056107 Q9BSJ8 ESYT1_HUMAN extended synaptotagmin-like protein 1 584 integral to membrane ovary(4)|skin(1) 5 CTCTGGTCCAAACTCCAGACT 0.527000 MYO1A 4640 broad.mit.edu 37 12 57437101 57437101 + Nonsense_Mutation SNP C C A TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chr12:57437101C>A uc001smw.3 - 11 1177 c.934G>T c.(934-936)GAA>TAA p.E312* MYO1A_uc010sqz.1_Nonsense_Mutation_p.E150*|MYO1A_uc009zpd.2_Nonsense_Mutation_p.E312* NM_005379 NP_005370 Q9UBC5 MYO1A_HUMAN myosin IA 312 Myosin head-like. sensory perception of sound|vesicle localization brush border|cortical actin cytoskeleton|filamentous actin|lateral plasma membrane|microvillus|myosin complex actin binding|ATP binding|calmodulin binding|motor activity skin(4)|ovary(2)|urinary_tract(1) 7 CTCTCTACTTCTTCTGAATTC 0.507000 DPY19L2 283417 broad.mit.edu 37 12 64061913 64061913 + Silent SNP A A G TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chr12:64061913A>G uc001srp.1 - 1 442 c.261T>C c.(259-261)AAT>AAC p.N87N DPY19L2_uc009zqk.1_RNA NM_173812 NP_776173 Q6NUT2 D19L2_HUMAN dpy-19-like 2 87 multicellular organismal development|spermatid development integral to membrane central_nervous_system(1)|skin(1) 2 GBM - Glioblastoma multiforme(1;2.77e-05) GBM - Glioblastoma multiforme(28;0.044) GCGCCAGGGAATTACGGACGA 0.612000 WIF1 11197 broad.mit.edu 37 12 65460501 65460501 + Missense_Mutation SNP C C T TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chr12:65460501C>T uc001ssk.2 - 6 795 c.650G>A c.(649-651)CGA>CAA p.R217Q NM_007191 NP_009122 Q9Y5W5 WIF1_HUMAN WNT inhibitory factor 1 precursor 217 EGF-like 2. multicellular organismal development|Wnt receptor signaling pathway extracellular region protein tyrosine kinase activity ovary(2)|lung(1)|skin(1) 4 LUAD - Lung adenocarcinoma(6;0.0234)|LUSC - Lung squamous cell carcinoma(43;0.0975) GBM - Glioblastoma multiforme(28;0.0231) ATTCATACATCGTGGGGTACA 0.423000 T HMGA2 pleomorphic salivary gland adenoma NUP107 57122 broad.mit.edu 37 12 69085815 69085815 + Missense_Mutation SNP A A C TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chr12:69085815A>C uc001suf.2 + 5 486 c.371A>C c.(370-372)AAC>ACC p.N124T NUP107_uc001sug.2_Intron|NUP107_uc010stj.1_Missense_Mutation_p.N95T NM_020401 NP_065134 P57740 NU107_HUMAN nucleoporin 107kDa 124 carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA export from nucleus|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction condensed chromosome kinetochore|cytosol|Nup107-160 complex nucleocytoplasmic transporter activity|protein binding skin(1) 1 Breast(13;6.25e-06) Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.00694) CTGTTCACAAACACAGAGCCC 0.403000 SLC35E3 55508 broad.mit.edu 37 12 69141776 69141776 + Missense_Mutation SNP G G C TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chr12:69141776G>C uc001suh.2 + 2 691 c.469G>C c.(469-471)GTG>CTG p.V157L NM_018656 NP_061126 Q7Z769 S35E3_HUMAN solute carrier family 35, member E2 157 Helical; (Potential). integral to membrane 0 Breast(13;2.31e-06)|Renal(347;0.0684) Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.00372) CCTTGGAATGGTGTTTGCTGC 0.308000 PTPRR 5801 broad.mit.edu 37 12 71092045 71092045 + Missense_Mutation SNP T T G TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chr12:71092045T>G uc001swi.1 - 8 1695 c.1279A>C c.(1279-1281)AAT>CAT p.N427H PTPRR_uc001swh.1_Missense_Mutation_p.N182H|PTPRR_uc009zrs.2_Missense_Mutation_p.N276H|PTPRR_uc010stq.1_Missense_Mutation_p.N315H|PTPRR_uc010str.1_Missense_Mutation_p.N276H NM_002849 NP_002840 Q15256 PTPRR_HUMAN protein tyrosine phosphatase, receptor type, R 427 Tyrosine-protein phosphatase.|Cytoplasmic (Potential). in utero embryonic development cell surface|Golgi apparatus|integral to membrane|nucleus|perinuclear region of cytoplasm|plasma membrane protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity skin(2)|ovary(1) 3 GBM - Glioblastoma multiforme(2;5.67e-07)|Lung(24;0.00283)|OV - Ovarian serous cystadenocarcinoma(12;0.00578)|LUSC - Lung squamous cell carcinoma(43;0.132) COAD - Colon adenocarcinoma(1;0.136) AGAAGCTTACTTGGTAAAATG 0.204000 GLIPR1L2 144321 broad.mit.edu 37 12 75816695 75816695 + Missense_Mutation SNP C C T TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chr12:75816695C>T uc001sxr.1 + 4 604 c.596C>T c.(595-597)ACG>ATG p.T199M GLIPR1L2_uc001sxp.1_Missense_Mutation_p.T199M|GLIPR1L2_uc001sxq.1_Missense_Mutation_p.T92M NM_152436 NP_689649 Q4G1C9 GRPL2_HUMAN GLI pathogenesis-related 1 like 2 199 integral to membrane ovary(1) 1 GGAACACTGACGAGAAGACCT 0.294000 E2F7 144455 broad.mit.edu 37 12 77423918 77423918 + Missense_Mutation SNP A A C TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chr12:77423918A>C uc001sym.3 - 10 1813 c.1577T>G c.(1576-1578)CTT>CGT p.L526R E2F7_uc009zse.2_Missense_Mutation_p.L13R NM_203394 NP_976328 Q96AV8 E2F7_HUMAN E2F transcription factor 7 526 cell cycle transcription factor complex DNA binding|identical protein binding upper_aerodigestive_tract(1)|ovary(1)|kidney(1) 3 TGCAGAAGCAAGTGAGACATC 0.527000 SLC5A8 160728 broad.mit.edu 37 12 101576638 101576638 + Missense_Mutation SNP T T C TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chr12:101576638T>C uc001thz.3 - 9 1498 c.1108A>G c.(1108-1110)AAA>GAA p.K370E NM_145913 NP_666018 Q8N695 SC5A8_HUMAN solute carrier family 5 (iodide transporter), 370 Cytoplasmic (Potential). apoptosis|sodium ion transport apical plasma membrane|integral to membrane monocarboxylic acid transmembrane transporter activity|passive transmembrane transporter activity|symporter activity 0 AAGTAAGGTTTGATTAGATCT 0.358000 NUP37 79023 broad.mit.edu 37 12 102512287 102512287 + Missense_Mutation SNP C C T TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chr12:102512287C>T uc001tjc.2 - 1 75 c.10G>A c.(10-12)GAT>AAT p.D4N NUP37_uc009zub.1_Missense_Mutation_p.D4N|C12orf48_uc001tjd.2_5'Flank|C12orf48_uc001tje.2_5'Flank|C12orf48_uc001tjg.2_5'Flank|C12orf48_uc010swa.1_5'Flank|C12orf48_uc001tjf.2_5'Flank|C12orf48_uc001tjh.2_5'Flank|C12orf48_uc010swb.1_5'Flank|C12orf48_uc001tji.2_5'Flank NM_024057 NP_076962 Q8NFH4 NUP37_HUMAN nucleoporin 37kDa 4 carbohydrate metabolic process|cell division|chromosome segregation|glucose transport|mitotic prometaphase|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction condensed chromosome kinetochore|cytosol|Nup107-160 complex protein binding ovary(1) 1 CTTGAGGCATCTTGCTTCATC 0.393000 MED13L 23389 broad.mit.edu 37 12 116446774 116446774 + Missense_Mutation SNP T T C TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chr12:116446774T>C uc001tvw.2 - 10 1499 c.1444A>G c.(1444-1446)AGA>GGA p.R482G NM_015335 NP_056150 Q71F56 MD13L_HUMAN mediator complex subunit 13-like 482 regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent skin(4)|ovary(2)|upper_aerodigestive_tract(1)|lung(1) 8 all_neural(191;0.117)|Medulloblastoma(191;0.163) BRCA - Breast invasive adenocarcinoma(302;0.0407) ATTAAGGGTCTCTTTTGCAGC 0.463000 SBNO1 55206 broad.mit.edu 37 12 123805055 123805055 + Missense_Mutation SNP T T G TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chr12:123805055T>G uc010tap.1 - 18 2591 c.2591A>C c.(2590-2592)AAA>ACA p.K864T SBNO1_uc010tao.1_Missense_Mutation_p.K863T|SBNO1_uc010taq.1_Intron NM_018183 NP_060653 A3KN83 SBNO1_HUMAN sno, strawberry notch homolog 1 864 Potential. ATP binding|DNA binding|hydrolase activity breast(5)|skin(2)|ovary(1)|kidney(1) 9 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000701)|Epithelial(86;0.00197) TTCAGCTAATTTTTCTAGCTT 0.453000 GTF2H3 2967 broad.mit.edu 37 12 124130078 124130078 + Missense_Mutation SNP T T C TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chr12:124130078T>C uc001ufo.1 + 3 196 c.170T>C c.(169-171)CTT>CCT p.L57P GTF2H3_uc010tau.1_Missense_Mutation_p.L16P NM_001516 NP_001507 Q13889 TF2H3_HUMAN general transcription factor IIH, polypeptide 3, 57 mRNA capping|nucleotide-excision repair, DNA damage removal|positive regulation of viral transcription|protein phosphorylation|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction core TFIIH complex|holo TFIIH complex damaged DNA binding|metal ion binding|protein N-terminus binding|sequence-specific DNA binding transcription factor activity|translation factor activity, nucleic acid binding 0 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;7.1e-05)|Epithelial(86;0.000388)|all cancers(50;0.00362) TCCAACAAACTTGCTGTGATA 0.383000 NER SCARB1 949 broad.mit.edu 37 12 125294827 125294827 + Silent SNP G G A TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chr12:125294827G>A uc001ugo.3 - 6 988 c.735C>T c.(733-735)TTC>TTT p.F245F SCARB1_uc001ugn.3_Silent_p.F245F|SCARB1_uc001ugm.3_Silent_p.F245F|SCARB1_uc010tbd.1_Silent_p.F245F|SCARB1_uc010tbe.1_Silent_p.F204F|SCARB1_uc001ugp.3_Silent_p.F245F NM_005505 NP_005496 Q8WTV0 SCRB1_HUMAN scavenger receptor class B, member 1 isoform 1 245 Extracellular (Potential). adhesion to symbiont|cell adhesion|cholesterol efflux|cholesterol homeostasis|cholesterol import|detection of lipopolysaccharide|high-density lipoprotein particle clearance|high-density lipoprotein particle remodeling|lipopolysaccharide transport|lipoprotein metabolic process|positive regulation of cholesterol storage|positive regulation of endothelial cell migration|positive regulation of nitric-oxide synthase activity|recognition of apoptotic cell|reverse cholesterol transport|triglyceride homeostasis|wound healing caveola 1-phosphatidylinositol binding|apolipoprotein A-I binding|high-density lipoprotein particle receptor activity|lipopolysaccharide receptor activity|low-density lipoprotein particle binding|phosphatidylserine binding|transporter activity kidney(1) 1 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000116)|Epithelial(86;0.000415)|all cancers(50;0.00395) Phosphatidylserine(DB00144) CGGAATGCCAGAAGTCAACCT 0.567000 FZD10 11211 broad.mit.edu 37 12 130647613 130647613 + Silent SNP C C T TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chr12:130647613C>T uc001uii.2 + 1 582 c.126C>T c.(124-126)TGC>TGT p.C42C uc001uig.1_5'Flank|uc001uih.1_5'Flank NM_007197 NP_009128 Q9ULW2 FZD10_HUMAN frizzled 10 precursor 42 FZ.|Extracellular (Potential). brain development|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|embryo development|gonad development|negative regulation of Rho GTPase activity|neuron differentiation|non-canonical Wnt receptor signaling pathway|positive regulation of JUN kinase activity|positive regulation of Rac GTPase activity|regulation of actin cytoskeleton organization|vasculature development cell projection|cell surface|cytoplasm|integral to plasma membrane G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding lung(3)|breast(1)|central_nervous_system(1) 5 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;1.3e-06)|Epithelial(86;1.66e-05)|all cancers(50;5.18e-05) TCCCGATGTGCAAGGACATCG 0.642000 CHFR 55743 broad.mit.edu 37 12 133433083 133433083 + Silent SNP T T C TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chr12:133433083T>C uc001ulf.2 - 10 1320 c.1236A>G c.(1234-1236)TCA>TCG p.S412S CHFR_uc001ulc.1_RNA|CHFR_uc001ule.2_Silent_p.S400S|CHFR_uc010tbs.1_Silent_p.S412S|CHFR_uc001uld.2_Silent_p.S371S|CHFR_uc010tbt.1_Silent_p.S320S NM_001161344 NP_001154816 Q96EP1 CHFR_HUMAN checkpoint with forkhead and ring finger domains 412 cell division|mitosis|mitotic cell cycle checkpoint|modification-dependent protein catabolic process|protein polyubiquitination PML body nucleotide binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding skin(1) 1 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_cancers(7;0.00552)|all_epithelial(31;0.226) OV - Ovarian serous cystadenocarcinoma(86;2.59e-08)|Epithelial(86;6.38e-07)|all cancers(50;1.56e-05) TGTCAACGTCTGACAGCTCCA 0.512000 NBEA 26960 broad.mit.edu 37 13 35692531 35692531 + Silent SNP T T C TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chr13:35692531T>C uc001uvb.2 + 17 2369 c.2163T>C c.(2161-2163)GAT>GAC p.D721D NM_015678 NP_056493 Q8NFP9 NBEA_HUMAN neurobeachin 721 cytosol|endomembrane system|plasma membrane|trans-Golgi network protein binding ovary(9)|large_intestine(2) 11 Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207) all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199) ATATTCATGATGTGCTACAGT 0.318000 NBEA 26960 broad.mit.edu 37 13 36242525 36242525 + Silent SNP C C T TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chr13:36242525C>T uc001uvb.2 + 57 8825 c.8619C>T c.(8617-8619)GAC>GAT p.D2873D NBEA_uc010abi.2_Silent_p.D1531D|NBEA_uc010tef.1_Silent_p.D666D|NBEA_uc001uvd.2_Silent_p.D451D NM_015678 NP_056493 Q8NFP9 NBEA_HUMAN neurobeachin 2873 WD 4. cytosol|endomembrane system|plasma membrane|trans-Golgi network protein binding ovary(9)|large_intestine(2) 11 Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207) all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199) TGAGCAGTGACGGCCAGAACC 0.423000 FREM2 341640 broad.mit.edu 37 13 39338478 39338478 + Missense_Mutation SNP T T G TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chr13:39338478T>G uc001uwv.2 + 3 5610 c.5301T>G c.(5299-5301)AAT>AAG p.N1767K NM_207361 NP_997244 Q5SZK8 FREM2_HUMAN FRAS1-related extracellular matrix protein 2 1767 Calx-beta 1.|Extracellular (Potential). cell communication|homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding ovary(7)|pancreas(1)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|skin(1) 11 Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114) all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312) TTCGTCTGAATTGGGCATGGA 0.343000 HNRNPA1L2 144983 broad.mit.edu 37 13 53216635 53216635 + Missense_Mutation SNP A A C TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chr13:53216635A>C uc001vgx.1 + 7 1081 c.8A>C c.(7-9)AAG>ACG p.K3T HNRNPA1L2_uc001vgy.1_Missense_Mutation_p.K3T|HNRNPA1L2_uc001vgz.1_Missense_Mutation_p.K3T NM_001011724 NP_001011724 Q32P51 RA1L2_HUMAN heterogeneous nuclear ribonucleoprotein A1-like 3 mRNA processing|mRNA transport|RNA splicing cytoplasm|spliceosomal complex nucleotide binding|RNA binding 0 GTCATGTCTAAGTCAGCGTCT 0.433000 PCDH17 27253 broad.mit.edu 37 13 58298873 58298873 + Silent SNP A A C TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chr13:58298873A>C uc001vhq.1 + 4 3817 c.2925A>C c.(2923-2925)GTA>GTC p.V975V PCDH17_uc010aec.1_Silent_p.V974V|PCDH17_uc001vhr.1_Silent_p.V64V NM_001040429 NP_001035519 O14917 PCD17_HUMAN protocadherin 17 precursor 975 Cytoplasmic (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding|protein binding ovary(3)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1) 7 Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132) GBM - Glioblastoma multiforme(99;1.06e-05) ATCTCTTTGTACCTACAGTTG 0.448000 PCDH9 5101 broad.mit.edu 37 13 67205388 67205388 + Silent SNP A A G TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chr13:67205388A>G uc001vik.2 - 4 3986 c.3294T>C c.(3292-3294)TCT>TCC p.S1098S PCDH9_uc010aei.2_RNA|PCDH9_uc001vil.2_Silent_p.S1064S|PCDH9_uc010thl.1_Silent_p.S1056S NM_203487 NP_982354 Q9HC56 PCDH9_HUMAN protocadherin 9 isoform 1 precursor 1098 Cytoplasmic (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(4)|pancreas(1)|skin(1) 6 Hepatocellular(98;0.0906)|Breast(118;0.107) GBM - Glioblastoma multiforme(99;0.00819) TCTTGTCCGGAGAGGCCTGGT 0.512000 MYCBP2 23077 broad.mit.edu 37 13 77715012 77715012 + Missense_Mutation SNP A A G TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chr13:77715012A>G uc001vkf.2 - 51 7347 c.7256T>C c.(7255-7257)GTC>GCC p.V2419A MYCBP2_uc010aev.2_Missense_Mutation_p.V1823A NM_015057 NP_055872 O75592 MYCB2_HUMAN MYC binding protein 2 2419 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ligase activity|protein binding|zinc ion binding ovary(4)|breast(4)|skin(3)|lung(2)|pancreas(1) 14 Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22) GBM - Glioblastoma multiforme(99;0.109) CTTTGGTTTGACCAACTGAGT 0.408000 SLITRK5 26050 broad.mit.edu 37 13 88330472 88330472 + Silent SNP G G A TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chr13:88330472G>A uc001vln.2 + 2 3048 c.2829G>A c.(2827-2829)CCG>CCA p.P943P SLITRK5_uc010tic.1_Silent_p.P702P NM_015567 NP_056382 O94991 SLIK5_HUMAN SLIT and NTRK-like family, member 5 precursor 943 Cytoplasmic (Potential). integral to membrane ovary(2)|pancreas(2)|central_nervous_system(1) 5 all_neural(89;0.101)|Medulloblastoma(90;0.163) ACGTTGAGCCGGACTACCTCG 0.468000 DOCK9 23348 broad.mit.edu 37 13 99519764 99519764 + Silent SNP A A G TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chr13:99519764A>G uc001vnt.2 - 30 3259 c.3204T>C c.(3202-3204)TTT>TTC p.F1068F DOCK9_uc001vnw.2_Silent_p.F1067F|DOCK9_uc001vnv.1_RNA|DOCK9_uc010tir.1_Silent_p.F1068F|DOCK9_uc010tis.1_Silent_p.F1067F|DOCK9_uc010tit.1_Silent_p.F1068F|DOCK9_uc010tiq.1_Silent_p.F32F|DOCK9_uc010afu.1_Silent_p.F914F NM_015296 NP_056111 Q9BZ29 DOCK9_HUMAN dedicator of cytokinesis 9 isoform a 1068 blood coagulation cytosol|endomembrane system|membrane GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity central_nervous_system(1) 1 all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184) CTACACGGAGAAATTCAAACT 0.358000 OR4M1 441670 broad.mit.edu 37 14 20248901 20248901 + Silent SNP C C T TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chr14:20248901C>T uc010tku.1 + 1 420 c.420C>T c.(418-420)CTC>CTT p.L140L NM_001005500 NP_001005500 Q8NGD0 OR4M1_HUMAN olfactory receptor, family 4, subfamily M, 140 Helical; Name=4; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00327) ATCGACGTCTCTGCTGTATCC 0.517000 RPGRIP1 57096 broad.mit.edu 37 14 21794020 21794020 + Missense_Mutation SNP G G A TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chr14:21794020G>A uc001wag.2 + 16 2398 c.2398G>A c.(2398-2400)GAG>AAG p.E800K RPGRIP1_uc001wah.2_Missense_Mutation_p.E442K|RPGRIP1_uc001wai.2_Intron|RPGRIP1_uc001wak.2_Missense_Mutation_p.E275K|RPGRIP1_uc010aim.2_Missense_Mutation_p.E183K|RPGRIP1_uc001wal.2_Missense_Mutation_p.E159K|RPGRIP1_uc001wam.2_Missense_Mutation_p.E117K NM_020366 NP_065099 Q96KN7 RPGR1_HUMAN retinitis pigmentosa GTPase regulator 800 response to stimulus|visual perception cilium ovary(4)|breast(2)|pancreas(1) 7 all_cancers(95;0.0017) all_cancers(140;0.0973) Epithelial(56;6.24e-07)|all cancers(55;6.56e-06) GBM - Glioblastoma multiforme(265;0.00888) ACCTCAGAACGAGCTGTGGAT 0.502000 PSMB11 122706 broad.mit.edu 37 14 23511989 23511989 + Silent SNP C C T TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chr14:23511989C>T uc010ake.1 + 1 614 c.555C>T c.(553-555)TAC>TAT p.Y185Y NM_001099780 NP_001093250 A5LHX3 PSB11_HUMAN proteasome beta 11 subunit precursor 185 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|mRNA metabolic process|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction cytoplasm|nucleus|proteasome core complex threonine-type endopeptidase activity 0 all_cancers(95;3.3e-05) GBM - Glioblastoma multiforme(265;0.00643) CCTATGCCTACGGCGTGCTAG 0.642000 TGM1 7051 broad.mit.edu 37 14 24727813 24727813 + Missense_Mutation SNP G G A TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chr14:24727813G>A uc001wod.2 - 8 1350 c.1226C>T c.(1225-1227)ACA>ATA p.T409I TGM1_uc010tog.1_Intron NM_000359 NP_000350 P22735 TGM1_HUMAN transglutaminase 1 409 cell envelope organization|keratinization|peptide cross-linking cornified envelope|intrinsic to membrane acyltransferase activity|metal ion binding|protein binding|protein-glutamine gamma-glutamyltransferase activity central_nervous_system(2)|ovary(1) 3 GBM - Glioblastoma multiforme(265;0.0186) L-Glutamine(DB00130) GGTAAGGGATGTGTCTGTGTC 0.577000 NOVA1 4857 broad.mit.edu 37 14 26949249 26949249 + Silent SNP C C A TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chr14:26949249C>A uc001wpy.2 - 3 699 c.381G>T c.(379-381)GTG>GTT p.V127V NOVA1_uc001wpz.2_Silent_p.V127V|NOVA1_uc001wqa.2_Silent_p.V5V|NOVA1_uc001wqb.2_Silent_p.V127V NM_002515 NP_002506 P51513 NOVA1_HUMAN neuro-oncological ventral antigen 1 isoform 1 130 locomotory behavior|RNA splicing|synaptic transmission nucleus RNA binding skin(2)|upper_aerodigestive_tract(1)|breast(1)|liver(1) 5 GBM - Glioblastoma multiforme(265;0.0135) CTGTCTTGGCCACATTTTGGG 0.433000 STRN3 29966 broad.mit.edu 37 14 31416341 31416341 + Missense_Mutation SNP A A T TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chr14:31416341A>T uc001wqu.2 - 5 887 c.671T>A c.(670-672)CTG>CAG p.L224Q STRN3_uc001wqv.2_Missense_Mutation_p.L224Q|STRN3_uc010tpj.1_RNA NM_001083893 NP_001077362 Q13033 STRN3_HUMAN nuclear autoantigen isoform 1 224 negative regulation of estrogen receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|response to estradiol stimulus cytoplasm|dendrite|Golgi apparatus|neuronal cell body|nucleoplasm|nucleus|plasma membrane|protein complex armadillo repeat domain binding|calmodulin binding|protein complex binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity 0 Hepatocellular(127;0.0877)|Breast(36;0.148) LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)|BRCA - Breast invasive adenocarcinoma(188;0.0805) GBM - Glioblastoma multiforme(265;0.0124) ACCTCCATTCAGGATCTGTTC 0.323000 ERO1L 30001 broad.mit.edu 37 14 53119797 53119797 + Missense_Mutation SNP G G A TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chr14:53119797G>A uc001wzv.2 - 12 1271 c.1045C>T c.(1045-1047)CAT>TAT p.H349Y ERO1L_uc001wzw.2_RNA|ERO1L_uc010aof.2_RNA NM_014584 NP_055399 Q96HE7 ERO1A_HUMAN ERO1-like precursor 349 chaperone mediated protein folding requiring cofactor|electron transport chain|protein thiol-disulfide exchange|response to temperature stimulus|transport endoplasmic reticulum lumen|endoplasmic reticulum membrane|microsome disulfide oxidoreductase activity|flavin adenine dinucleotide binding|oxidoreductase activity, acting on a sulfur group of donors, disulfide as acceptor 0 Breast(41;0.226) TTGATTTCATGAAGTATTTCC 0.244000 TMEM30B 161291 broad.mit.edu 37 14 61747020 61747020 + Silent SNP G G T TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chr14:61747020G>T uc001xfl.2 - 1 1511 c.846C>A c.(844-846)GCC>GCA p.A282A PRKCH_uc010tsa.1_Intron|TMEM30B_uc010apr.1_RNA NM_001017970 NP_001017970 Q3MIR4 CC50B_HUMAN transmembrane protein 30B 282 integral to membrane 0 OV - Ovarian serous cystadenocarcinoma(108;0.107)|BRCA - Breast invasive adenocarcinoma(234;0.181) TGACGCGGTAGGCGCCCCGCG 0.662000 SYNE2 23224 broad.mit.edu 37 14 64593322 64593322 + Missense_Mutation SNP G G A TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chr14:64593322G>A uc001xgm.2 + 73 13944 c.13714G>A c.(13714-13716)GCT>ACT p.A4572T SYNE2_uc001xgl.2_Missense_Mutation_p.A4572T|SYNE2_uc010apy.2_Missense_Mutation_p.A957T|SYNE2_uc010apz.1_Missense_Mutation_p.A464T NM_015180 NP_055995 Q8WXH0 SYNE2_HUMAN spectrin repeat containing, nuclear envelope 2 4572 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) CCAGACGCTGGCTCTTGAGTT 0.498000 PLEKHG3 26030 broad.mit.edu 37 14 65210268 65210268 + Silent SNP A A G TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chr14:65210268A>G uc001xho.1 + 17 3776 c.3507A>G c.(3505-3507)TCA>TCG p.S1169S PLEKHG3_uc001xhn.1_Silent_p.S1113S|PLEKHG3_uc001xhp.2_Silent_p.S1290S|PLEKHG3_uc010aqh.1_Silent_p.S711S|PLEKHG3_uc001xhq.1_Silent_p.S674S NM_015549 NP_056364 A1L390 PKHG3_HUMAN pleckstrin homology domain containing, family G, 1169 regulation of Rho protein signal transduction intracellular Rho guanyl-nucleotide exchange factor activity skin(1) 1 all cancers(60;0.00802)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)|BRCA - Breast invasive adenocarcinoma(234;0.0485) GACCAAGCTCACCGGTGGCCC 0.662000 SPTB 6710 broad.mit.edu 37 14 65264532 65264532 + Missense_Mutation SNP A A C TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chr14:65264532A>C uc001xht.2 - 9 1151 c.1097T>G c.(1096-1098)CTT>CGT p.L366R SPTB_uc001xhr.2_Missense_Mutation_p.L366R|SPTB_uc001xhs.2_Missense_Mutation_p.L366R|SPTB_uc001xhu.2_Missense_Mutation_p.L366R NM_000347 NP_000338 P11277 SPTB1_HUMAN spectrin beta isoform b 366 Spectrin 1. actin filament capping|axon guidance cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton actin filament binding|structural constituent of cytoskeleton ovary(7)|skin(2)|lung(1)|central_nervous_system(1) 11 all_lung(585;4.15e-09) all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628) GATGGTAAAAAGTAGAACTTC 0.423000 NRXN3 9369 broad.mit.edu 37 14 79432563 79432563 + Missense_Mutation SNP G G A TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chr14:79432563G>A uc001xun.2 + 9 1963 c.1472G>A c.(1471-1473)GGA>GAA p.G491E NRXN3_uc001xum.1_RNA|NRXN3_uc010asv.1_Missense_Mutation_p.G616E NM_004796 NP_004787 Q9Y4C0 NRX3A_HUMAN neurexin 3 isoform 1 precursor 864 Extracellular (Potential). axon guidance|cell adhesion integral to plasma membrane metal ion binding|receptor activity ovary(3)|upper_aerodigestive_tract(2)|pancreas(2)|central_nervous_system(1)|breast(1)|skin(1) 10 Renal(4;0.00876) BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223) GCTCGTTTTGGACTGAGGAAC 0.468000 STON2 85439 broad.mit.edu 37 14 81864716 81864716 + Missense_Mutation SNP A A G TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chr14:81864716A>G uc010tvu.1 - 1 212 c.11T>C c.(10-12)TTG>TCG p.L4S STON2_uc001xvk.1_Missense_Mutation_p.L4S|STON2_uc010atc.1_Missense_Mutation_p.L4S NM_033104 NP_149095 Q8WXE9 STON2_HUMAN stonin 2 4 endocytosis|intracellular protein transport|regulation of endocytosis clathrin adaptor complex|nucleolus protein binding skin(3)|pancreas(2) 5 BRCA - Breast invasive adenocarcinoma(234;0.0348) CACATGGTCCAAAGTCGTCAT 0.532000 FLRT2 23768 broad.mit.edu 37 14 86089254 86089254 + Missense_Mutation SNP G G A TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chr14:86089254G>A uc001xvr.2 + 2 2163 c.1396G>A c.(1396-1398)GTT>ATT p.V466I FLRT2_uc010atd.2_Missense_Mutation_p.V466I NM_013231 NP_037363 O43155 FLRT2_HUMAN fibronectin leucine rich transmembrane protein 2 466 Fibronectin type-III.|Extracellular (Potential). cell adhesion integral to plasma membrane|proteinaceous extracellular matrix protein binding, bridging|receptor signaling protein activity ovary(3)|haematopoietic_and_lymphoid_tissue(1) 4 BRCA - Breast invasive adenocarcinoma(234;0.0319) AGGGGGCATCGTTCAGGAGCG 0.498000 KCNK13 56659 broad.mit.edu 37 14 90650597 90650597 + Silent SNP G G A TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chr14:90650597G>A uc001xye.1 + 2 919 c.477G>A c.(475-477)TCG>TCA p.S159S NM_022054 NP_071337 Q9HB14 KCNKD_HUMAN potassium channel, subfamily K, member 13 159 Cytoplasmic (Potential). integral to membrane potassium channel activity|voltage-gated ion channel activity skin(1) 1 all_cancers(154;0.186) TCATGAAGTCGTGCCACCAGC 0.602000 TRIP11 9321 broad.mit.edu 37 14 92488050 92488050 + Silent SNP G G A TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chr14:92488050G>A uc001xzy.2 - 4 1226 c.438C>T c.(436-438)TTC>TTT p.F146F NM_004239 NP_004230 Q15643 TRIPB_HUMAN thyroid hormone receptor interactor 11 146 Potential. transcription from RNA polymerase II promoter cytoskeleton|Golgi apparatus|membrane|nucleus protein binding|transcription coactivator activity ovary(6)|skin(2)|kidney(2)|central_nervous_system(1)|lung(1)|breast(1) 13 COAD - Colon adenocarcinoma(157;0.223) TCCCATAAGCGAATGAAGATG 0.448000 T PDGFRB AML TRIP11 9321 broad.mit.edu 37 14 92491681 92491681 + Missense_Mutation SNP A A C TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chr14:92491681A>C uc001xzy.2 - 3 1073 c.285T>G c.(283-285)AGT>AGG p.S95R NM_004239 NP_004230 Q15643 TRIPB_HUMAN thyroid hormone receptor interactor 11 95 Potential. transcription from RNA polymerase II promoter cytoskeleton|Golgi apparatus|membrane|nucleus protein binding|transcription coactivator activity ovary(6)|skin(2)|kidney(2)|central_nervous_system(1)|lung(1)|breast(1) 13 COAD - Colon adenocarcinoma(157;0.223) GATTTCGGTAACTTGTAGATT 0.294000 T PDGFRB AML KIAA1409 57578 broad.mit.edu 37 14 94063712 94063712 + Missense_Mutation SNP A A C TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chr14:94063712A>C uc001ybv.1 + 21 2750 c.2667A>C c.(2665-2667)AAA>AAC p.K889N KIAA1409_uc001ybs.1_Missense_Mutation_p.K889N NM_020818 NP_065869 Q9P2D8 UNC79_HUMAN hypothetical protein LOC57578 1066 integral to membrane ovary(10)|skin(4)|large_intestine(3) 17 all_cancers(154;0.0354)|all_epithelial(191;0.216) Epithelial(152;0.188) CAGTGGAAAAAGTTGCTGTAA 0.423000 SETD3 84193 broad.mit.edu 37 14 99932051 99932051 + Missense_Mutation SNP T T C TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chr14:99932051T>C uc001ygc.2 - 2 262 c.92A>G c.(91-93)GAG>GGG p.E31G SETD3_uc001ygd.2_Missense_Mutation_p.E31G|SETD3_uc001ygf.2_Missense_Mutation_p.E31G NM_032233 NP_115609 Q86TU7 SETD3_HUMAN SET domain containing 3 isoform a 31 peptidyl-lysine dimethylation|peptidyl-lysine monomethylation|peptidyl-lysine trimethylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus histone methyltransferase activity (H3-K36 specific)|transcription coactivator activity 0 all_cancers(154;0.224)|all_epithelial(191;0.0644)|Melanoma(154;0.0866) CTGCAGCAGCTCACTGGTCAG 0.498000 AHNAK2 113146 broad.mit.edu 37 14 105419971 105419971 + Missense_Mutation SNP G G T TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chr14:105419971G>T uc010axc.1 - 7 1937 c.1817C>A c.(1816-1818)ACA>AAA p.T606K AHNAK2_uc001ypx.2_Missense_Mutation_p.T506K NM_138420 NP_612429 Q8IVF2 AHNK2_HUMAN AHNAK nucleoprotein 2 606 nucleus ovary(1) 1 all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183) all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116) TGTGTCTTCTGTGGCTTTTTC 0.483000 RTF1 23168 broad.mit.edu 37 15 41772842 41772842 + Missense_Mutation SNP C C T TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chr15:41772842C>T uc001zny.2 + 18 2102 c.2090C>T c.(2089-2091)TCT>TTT p.S697F NM_015138 NP_055953 Q92541 RTF1_HUMAN Paf1/RNA polymerase II complex component 697 histone modification|regulation of transcription, DNA-dependent|transcription initiation, DNA-dependent nucleoplasm protein binding|single-stranded DNA binding ovary(2) 2 all_cancers(109;1.79e-19)|all_epithelial(112;8.18e-17)|Lung NSC(122;3.16e-11)|all_lung(180;8.14e-10)|Melanoma(134;0.0179)|Colorectal(260;0.0946)|Ovarian(310;0.143) OV - Ovarian serous cystadenocarcinoma(18;1.15e-16)|GBM - Glioblastoma multiforme(113;1.81e-06)|BRCA - Breast invasive adenocarcinoma(123;0.119) CCAAGGAGATCTCTGAACTTG 0.557000 MGA 23269 broad.mit.edu 37 15 42003309 42003309 + Missense_Mutation SNP A A C TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chr15:42003309A>C uc001zog.1 + 8 2937 c.2846A>C c.(2845-2847)AAT>ACT p.N949T MGA_uc010ucy.1_Missense_Mutation_p.N949T|MGA_uc010ucz.1_Missense_Mutation_p.N949T NM_001080541 NP_001074010 Q8IWI9 MGAP_HUMAN MAX-interacting protein isoform 2 949 MLL1 complex DNA binding|sequence-specific DNA binding transcription factor activity ovary(6)|kidney(3)|upper_aerodigestive_tract(1)|haematopoietic_and_lymphoid_tissue(1)|skin(1) 12 all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238) OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235) ATCTCAGAAAATCAGGCGAAT 0.408000 MGA 23269 broad.mit.edu 37 15 42032110 42032110 + Missense_Mutation SNP G G A TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chr15:42032110G>A uc010uda.1 + 3 268 c.142G>A c.(142-144)GGT>AGT p.G48S MGA_uc010ucy.1_Intron|MGA_uc010ucz.1_Intron NM_001164273 NP_001157745 Q8IWI9 MGAP_HUMAN MAX-interacting protein isoform 1 1413 MLL1 complex DNA binding|sequence-specific DNA binding transcription factor activity ovary(6)|kidney(3)|upper_aerodigestive_tract(1)|haematopoietic_and_lymphoid_tissue(1)|skin(1) 12 all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238) OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235) TCAGGTTAATGGTAAGAGTTA 0.443000 SEMA6D 80031 broad.mit.edu 37 15 48056380 48056380 + Silent SNP T T A TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chr15:48056380T>A uc010bek.2 + 11 1335 c.975T>A c.(973-975)GGT>GGA p.G325G SEMA6D_uc001zvw.2_Silent_p.G325G|SEMA6D_uc001zvx.1_Silent_p.G325G|SEMA6D_uc001zvy.2_Silent_p.G325G|SEMA6D_uc001zvz.2_Silent_p.G325G|SEMA6D_uc001zwa.2_Silent_p.G325G|SEMA6D_uc001zwb.2_Silent_p.G325G|SEMA6D_uc001zwc.2_Silent_p.G325G NM_153618 NP_705871 Q8NFY4 SEM6D_HUMAN semaphorin 6D isoform 4 precursor 325 Sema.|Extracellular (Potential). axon guidance cytoplasm|integral to membrane|plasma membrane receptor activity skin(3)|breast(1) 4 all_lung(180;0.000635)|Myeloproliferative disorder(241;0.116)|Melanoma(134;0.18) all cancers(107;1.2e-11)|GBM - Glioblastoma multiforme(94;1.2e-06) GCATCCCTGGTTCTGCTGTCT 0.458000 MYEF2 50804 broad.mit.edu 37 15 48435171 48435171 + Nonsense_Mutation SNP G G T TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chr15:48435171G>T uc001zwi.3 - 17 1861 c.1737C>A c.(1735-1737)TGC>TGA p.C579* MYEF2_uc001zwg.3_Nonsense_Mutation_p.C117*|MYEF2_uc001zwh.3_Nonsense_Mutation_p.C167*|MYEF2_uc001zwj.3_Nonsense_Mutation_p.C555* NM_016132 NP_057216 Q9P2K5 MYEF2_HUMAN myelin expression factor 2 579 RRM 3. transcription, DNA-dependent Golgi apparatus|nucleus DNA binding|nucleotide binding|RNA binding lung(2)|ovary(1) 3 all_lung(180;0.00217) all cancers(107;3.73e-10)|GBM - Glioblastoma multiforme(94;7.81e-07) TCATTATTCTGCAGGCTTTTT 0.393000 UNC13C 440279 broad.mit.edu 37 15 54786926 54786926 + Missense_Mutation SNP A A C TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chr15:54786926A>C uc002ack.2 + 18 5054 c.5054A>C c.(5053-5055)TAC>TCC p.Y1685S NM_001080534 NP_001074003 Q8NB66 UN13C_HUMAN unc-13 homolog C 1685 MHD1. exocytosis|intracellular signal transduction cell junction|cytoplasm|presynaptic membrane metal ion binding ovary(5)|pancreas(2) 7 GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124) GTTCCTGAATACTCCTTGTAA 0.353000 BBS4 585 broad.mit.edu 37 15 73029293 73029293 + Missense_Mutation SNP C C T TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chr15:73029293C>T uc002avb.2 + 15 1482 c.1439C>T c.(1438-1440)ACG>ATG p.T480M BBS4_uc010ukv.1_Missense_Mutation_p.T468M|BBS4_uc002avc.2_Missense_Mutation_p.T308M|BBS4_uc002avd.2_Missense_Mutation_p.T488M NM_033028 NP_149017 Q96RK4 BBS4_HUMAN Bardet-Biedl syndrome 4 480 Required for localization to centrosomes. adult behavior|brain morphogenesis|cell cycle cytokinesis|centrosome organization|cerebral cortex development|convergent extension involved in gastrulation|dendrite development|fat cell differentiation|heart looping|hippocampus development|intracellular transport|maintenance of protein location in nucleus|melanosome transport|microtubule anchoring at centrosome|neural tube closure|nonmotile primary cilium assembly|photoreceptor cell maintenance|pigment granule aggregation in cell center|positive regulation of flagellum assembly|regulation of cilium beat frequency involved in ciliary motility|regulation of cytokinesis|regulation of lipid metabolic process|retina homeostasis|retinal rod cell development|sensory perception of smell|sensory processing|spermatid development|striatum development BBSome|centriolar satellite|centriole|cilium membrane|microtubule basal body|motile cilium|nonmotile primary cilium|nucleus|pericentriolar material alpha-tubulin binding|beta-tubulin binding|dynactin binding|microtubule motor activity 0 GCATACAGGACGCTCCCCTCA 0.522000 Bardet-Biedl_syndrome CPEB1 64506 broad.mit.edu 37 15 83221347 83221347 + Silent SNP G G A TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chr15:83221347G>A uc002bit.2 - 8 1415 c.1278C>T c.(1276-1278)TTC>TTT p.F426F CPEB1_uc002biq.2_Silent_p.F286F|CPEB1_uc002bir.2_Silent_p.F291F|CPEB1_uc002bis.2_Silent_p.F286F|CPEB1_uc010uod.1_Silent_p.F135F|CPEB1_uc010uoe.1_Silent_p.F364F|CPEB1_uc002biu.2_Silent_p.F388F|CPEB1_uc010uof.1_Silent_p.F286F|CPEB1_uc002biv.2_Silent_p.F361F|CPEB1_uc002bip.2_Silent_p.F135F NM_001079533 NP_001073001 Q9BZB8 CPEB1_HUMAN cytoplasmic polyadenylation element binding 366 RRM 1.|Necessary for stress granule assembly and correct localization in dcp1 bodies. mRNA processing|regulation of translation cell junction|cytoplasmic mRNA processing body|dendrite|postsynaptic density|postsynaptic membrane nucleotide binding|RNA binding ovary(1)|breast(1) 2 BRCA - Breast invasive adenocarcinoma(143;0.229) TCTCTAGTTCGAAGACCAGAT 0.493000 AGBL1 123624 broad.mit.edu 37 15 87531292 87531292 + Missense_Mutation SNP A A C TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chr15:87531292A>C uc002blz.1 + 23 3238 c.3158A>C c.(3157-3159)AAG>ACG p.K1053T NM_152336 NP_689549 Q96MI9 CBPC4_HUMAN ATP/GTP binding protein-like 1 1053 C-terminal protein deglutamylation|protein side chain deglutamylation|proteolysis cytosol metallocarboxypeptidase activity|tubulin binding|zinc ion binding 0 aactttttcaagatgaacctt 0.045000 WDR93 56964 broad.mit.edu 37 15 90244983 90244983 + Silent SNP A A C TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chr15:90244983A>C uc002boj.2 + 2 107 c.6A>C c.(4-6)TCA>TCC p.S2S WDR93_uc002bok.3_Silent_p.S2S|WDR93_uc010bnr.2_Silent_p.S2S NM_020212 NP_064597 Q6P2C0 WDR93_HUMAN WD repeat domain 93 2 electron transport chain mitochondrial inner membrane oxidoreductase activity, acting on NADH or NADPH ovary(2) 2 Lung NSC(78;0.0237)|all_lung(78;0.0478) KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|BRCA - Breast invasive adenocarcinoma(143;0.128) CTGTGATGTCATTCCCAAGAG 0.458000 IFT140 9742 broad.mit.edu 37 16 1574665 1574665 + Missense_Mutation SNP A A C TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chr16:1574665A>C uc002cmb.2 - 24 3391 c.3029T>G c.(3028-3030)CTG>CGG p.L1010R IFT140_uc002clz.2_Missense_Mutation_p.L623R NM_014714 NP_055529 Q96RY7 IF140_HUMAN intraflagellar transport 140 1010 TPR 5. ovary(3)|pancreas(1)|skin(1) 5 Hepatocellular(780;0.219) GGAGGCCGCCAGGTTTCCTGT 0.622000 TRAF7 84231 broad.mit.edu 37 16 2222327 2222327 + Missense_Mutation SNP A A C TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chr16:2222327A>C uc002cow.2 + 8 710 c.611A>C c.(610-612)GAG>GCG p.E204A NM_032271 NP_115647 Q6Q0C0 TRAF7_HUMAN TNF receptor-associated factor 7 204 activation of MAPKKK activity|apoptosis|regulation of apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasmic membrane-bounded vesicle|ubiquitin ligase complex identical protein binding|ubiquitin-protein ligase activity|zinc ion binding ovary(1)|lung(1)|breast(1) 3 CCCATCTTTGAGGTGGACCCC 0.677000 ADCY9 115 broad.mit.edu 37 16 4016903 4016903 + Missense_Mutation SNP C C T TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chr16:4016903C>T uc002cvx.2 - 11 3474 c.2935G>A c.(2935-2937)GGC>AGC p.G979S NM_001116 NP_001107 O60503 ADCY9_HUMAN adenylate cyclase 9 979 Helical; (Potential). activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport integral to plasma membrane adenylate cyclase activity|ATP binding|metal ion binding ovary(4)|large_intestine(1)|central_nervous_system(1) 6 ACCTCCTGGCCGATGAGGCTG 0.582000 TNP2 7142 broad.mit.edu 37 16 11362947 11362947 + Missense_Mutation SNP T T A TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chr16:11362947T>A uc002das.2 - 1 214 c.173A>T c.(172-174)AAC>ATC p.N58I C16orf75_uc002daq.1_Intron NM_005425 NP_005416 Q05952 STP2_HUMAN transition protein 2 (during histone to 58 cell differentiation|multicellular organismal development|spermatogenesis nucleosome|nucleus DNA binding 0 TCCAGTTGGGTTGCGGTGGCT 0.612000 TMC7 79905 broad.mit.edu 37 16 19041646 19041646 + Missense_Mutation SNP G G T TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chr16:19041646G>T uc002dfq.2 + 6 942 c.812G>T c.(811-813)AGC>ATC p.S271I TMC7_uc010vao.1_Missense_Mutation_p.S271I|TMC7_uc002dfp.2_Missense_Mutation_p.S271I|TMC7_uc010vap.1_Missense_Mutation_p.S161I NM_024847 NP_079123 Q7Z402 TMC7_HUMAN transmembrane channel-like 7 isoform a 271 Helical; (Potential). integral to membrane skin(2)|ovary(1) 3 TATTTGTTAAGCACAATCGCC 0.473000 GTF3C1 2975 broad.mit.edu 37 16 27492434 27492434 + Missense_Mutation SNP C C T TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chr16:27492434C>T uc002dov.1 - 27 4202 c.4162G>A c.(4162-4164)GAA>AAA p.E1388K GTF3C1_uc002dou.2_Missense_Mutation_p.E1388K NM_001520 NP_001511 Q12789 TF3C1_HUMAN general transcription factor IIIC, polypeptide 1388 transcription factor TFIIIC complex DNA binding|protein binding ovary(2)|pancreas(1)|breast(1)|skin(1) 5 TCTGGGATTTCAAGGTTAGAA 0.478000 SPN 6693 broad.mit.edu 37 16 29675643 29675643 + Silent SNP T T A TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chr16:29675643T>A uc002dtm.2 + 2 730 c.594T>A c.(592-594)ACT>ACA p.T198T uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|SPN_uc002dtn.2_Silent_p.T198T|SPN_uc010bzd.2_RNA NM_001030288 NP_001025459 P16150 LEUK_HUMAN sialophorin precursor 198 Extracellular (Potential). blood coagulation|cellular defense response|chemotaxis|defense response to bacterium|establishment or maintenance of cell polarity|immune response|leukocyte migration|negative regulation of cell adhesion|positive regulation of tumor necrosis factor biosynthetic process extracellular space|integral to plasma membrane bacterial cell surface binding|transmembrane receptor activity central_nervous_system(2) 2 AGACCTCCACTGGGACCACTG 0.572000 MAZ 4150 broad.mit.edu 37 16 29818187 29818187 + Silent SNP C C T TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chr16:29818187C>T uc002dty.2 + 1 333 c.165C>T c.(163-165)TCC>TCT p.S55S uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|MAZ_uc002dtv.1_Silent_p.S32S|MAZ_uc010vdx.1_Silent_p.S32S|MAZ_uc002dtw.2_Silent_p.S55S|MAZ_uc002dtx.2_Silent_p.S55S|MAZ_uc010bzg.2_Silent_p.S55S|MAZ_uc002dtz.1_5'Flank|MAZ_uc002dua.2_5'Flank|MAZ_uc010vdy.1_5'Flank NM_002383 NP_002374 P56270 MAZ_HUMAN MYC-associated zinc finger protein isoform 1 55 regulation of transcription, DNA-dependent|termination of RNA polymerase II transcription|transcription initiation from RNA polymerase II promoter nucleus DNA binding|protein binding|RNA binding|zinc ion binding ovary(1) 1 TCTTTGCCTCCCAGGGCTGCG 0.453000 NETO2 81831 broad.mit.edu 37 16 47143516 47143516 + Missense_Mutation SNP T T G TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chr16:47143516T>G uc002eer.1 - 7 1146 c.761A>C c.(760-762)AAG>ACG p.K254T NETO2_uc002eeq.1_Missense_Mutation_p.K27T|NETO2_uc010vgf.1_Missense_Mutation_p.K111T|NETO2_uc002ees.1_Missense_Mutation_p.K247T NM_018092 NP_060562 Q8NC67 NETO2_HUMAN neuropilin- and tolloid-like protein 2 254 Extracellular (Potential).|CUB 2. integral to membrane receptor activity 0 all_cancers(37;0.00114)|all_lung(18;0.00432)|Lung NSC(13;0.0384)|Breast(268;0.174) GCTGCAAAACTTGGCCTTCAG 0.423000 HNSCC(25;0.065) CMIP 80790 broad.mit.edu 37 16 81641288 81641288 + Silent SNP C C T TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chr16:81641288C>T uc002fgp.2 + 2 489 c.417C>T c.(415-417)GTC>GTT p.V139V CMIP_uc002fgq.1_Silent_p.V45V|CMIP_uc010vnq.1_5'Flank NM_198390 NP_938204 Q8IY22 CMIP_HUMAN c-Maf-inducing protein isoform C-mip 105 PH. cytoplasm|nucleus 0 GGGGAACTGTCTTACTGCAGG 0.498000 PLCG2 5336 broad.mit.edu 37 16 81944213 81944213 + Missense_Mutation SNP A A C TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chr16:81944213A>C uc002fgt.2 + 18 1974 c.1822A>C c.(1822-1824)AGC>CGC p.S608R PLCG2_uc010chg.1_Missense_Mutation_p.S608R NM_002661 NP_002652 P16885 PLCG2_HUMAN phospholipase C, gamma 2 608 SH2 1. TFSSI -> RFRRM (in Ref. 1; CAA32194/ AAA60112 and 3; AAQ76815). intracellular signal transduction|phospholipid catabolic process|platelet activation plasma membrane phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity large_intestine(4)|lung(2)|ovary(1)|skin(1) 8 CCTCACCTTCAGCAGCATCTA 0.652000 USP10 9100 broad.mit.edu 37 16 84797843 84797843 + Silent SNP C C T TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chr16:84797843C>T uc002fii.2 + 10 1948 c.1806C>T c.(1804-1806)ATC>ATT p.I602I USP10_uc010voe.1_Silent_p.I606I|USP10_uc010vof.1_Silent_p.I164I|USP10_uc002fij.2_Silent_p.I128I NM_005153 NP_005144 Q14694 UBP10_HUMAN ubiquitin specific protease 10 602 DNA damage response, signal transduction by p53 class mediator|DNA repair|protein deubiquitination|ubiquitin-dependent protein catabolic process early endosome|intermediate filament cytoskeleton|nucleus cystic fibrosis transmembrane conductance regulator binding|p53 binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity 0 AGACTCCAATCACCGGCATTT 0.488000 FBXO31 79791 broad.mit.edu 37 16 87369863 87369863 + Missense_Mutation SNP C C T TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chr16:87369863C>T uc002fjw.2 - 6 784 c.740G>A c.(739-741)CGG>CAG p.R247Q FBXO31_uc010vot.1_Missense_Mutation_p.R75Q|FBXO31_uc002fjv.2_Missense_Mutation_p.R139Q NM_024735 NP_079011 Q5XUX0 FBX31_HUMAN F-box protein 31 247 cell cycle|cyclin catabolic process|mitotic cell cycle G1/S transition DNA damage checkpoint|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process SCF ubiquitin ligase complex cyclin binding lung(1) 1 BRCA - Breast invasive adenocarcinoma(80;0.0272) CAGCCACGTCCGAAACTCCTT 0.547000 SMYD4 114826 broad.mit.edu 37 17 1703659 1703659 + Silent SNP T T A TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chr17:1703659T>A uc002ftm.3 - 5 1197 c.1029A>T c.(1027-1029)ACA>ACT p.T343T SMYD4_uc002ftn.1_Silent_p.T198T NM_052928 NP_443160 Q8IYR2 SMYD4_HUMAN SET and MYND domain containing 4 343 zinc ion binding skin(3)|kidney(2) 5 AGACACCCAGTGTGAGAAGCA 0.488000 OR1A1 8383 broad.mit.edu 37 17 3119805 3119805 + Silent SNP T T C TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chr17:3119805T>C uc010vrc.1 + 1 891 c.891T>C c.(889-891)GCT>GCC p.A297A NM_014565 NP_055380 Q9P1Q5 OR1A1_HUMAN olfactory receptor, family 1, subfamily A, 297 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|skin(1) 2 ACATGAAGGCTGCCCTGCGGA 0.438000 ALOX15 246 broad.mit.edu 37 17 4534935 4534935 + Missense_Mutation SNP T T C TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chr17:4534935T>C uc002fyh.2 - 14 1963 c.1949A>G c.(1948-1950)TAC>TGC p.Y650C ALOX15_uc010vsd.1_Missense_Mutation_p.Y611C|ALOX15_uc010vse.1_Missense_Mutation_p.Y672C NM_001140 NP_001131 P16050 LOX15_HUMAN arachidonate 15-lipoxygenase 650 Lipoxygenase. inflammatory response|leukotriene biosynthetic process nucleus arachidonate 15-lipoxygenase activity|iron ion binding|lipoxygenase activity skin(3)|ovary(1)|lung(1) 5 READ - Rectum adenocarcinoma(115;0.0327) Ciclopirox(DB01188)|Masoprocol(DB00179)|Zileuton(DB00744) GGGCCGCAGGTACTCGTAGGG 0.567000 NUP88 4927 broad.mit.edu 37 17 5308509 5308509 + Missense_Mutation SNP T T G TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chr17:5308509T>G uc002gbo.1 - 6 938 c.912A>C c.(910-912)GAA>GAC p.E304D NUP88_uc010vsx.1_Missense_Mutation_p.E304D|NUP88_uc010cle.1_Missense_Mutation_p.E303D|NUP88_uc010vsy.1_Missense_Mutation_p.E304D NM_002532 NP_002523 Q99567 NUP88_HUMAN nucleoporin 88kDa 304 carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction cytosol|nuclear pore transporter activity kidney(1) 1 CATAGTTATCTTCAGCCGCAG 0.443000 CLEC10A 10462 broad.mit.edu 37 17 6978394 6978394 + Silent SNP C C T TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chr17:6978394C>T uc002gek.2 - 9 1233 c.930G>A c.(928-930)CAG>CAA p.Q310Q CLEC10A_uc002gej.2_Silent_p.Q286Q|CLEC10A_uc002gel.2_Silent_p.Q283Q|CLEC10A_uc010clv.1_3'UTR NM_182906 NP_878910 Q8IUN9 CLC10_HUMAN C-type lectin, superfamily member 14 isoform 1 310 Extracellular (Potential). endocytosis|innate immune response integral to membrane|plasma membrane sugar binding 0 CCTGGCTGGTCTGACCCAGGC 0.637000 MYH10 4628 broad.mit.edu 37 17 8411923 8411923 + Missense_Mutation SNP T T G TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chr17:8411923T>G uc002gll.2 - 24 3166 c.3070A>C c.(3070-3072)AAC>CAC p.N1024H MYH10_uc002glm.2_Missense_Mutation_p.N1055H|MYH10_uc010cnx.2_Missense_Mutation_p.N1033H NM_005964 NP_005955 P35580 MYH10_HUMAN myosin, heavy polypeptide 10, non-muscle 1024 Potential. actin filament-based movement|axon guidance|cytokinesis after mitosis|regulation of cell shape cell cortex|cleavage furrow|midbody|myosin complex|stress fiber actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity ovary(2) 2 TTGGCCAAGTTTTTCGCCTTT 0.423000 MYH13 8735 broad.mit.edu 37 17 10215260 10215260 + Missense_Mutation SNP T T C TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chr17:10215260T>C uc002gmk.1 - 32 4589 c.4499A>G c.(4498-4500)GAG>GGG p.E1500G NM_003802 NP_003793 Q9UKX3 MYH13_HUMAN myosin, heavy polypeptide 13, skeletal muscle 1500 Potential. muscle contraction muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|microfilament motor activity ovary(4)|skin(2) 6 CCTCAGTGTCTCTAACTGGTC 0.542000 MED9 55090 broad.mit.edu 37 17 17394653 17394653 + Silent SNP G G A TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chr17:17394653G>A uc002grh.1 + 2 341 c.285G>A c.(283-285)CAG>CAA p.Q95Q NM_018019 NP_060489 Q9NWA0 MED9_HUMAN mediator complex subunit 9 95 regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent protein binding 0 GCAAGTTCCAGGAGATGCGCA 0.587000 LRRC48 83450 broad.mit.edu 37 17 17900913 17900913 + Missense_Mutation SNP C C T TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chr17:17900913C>T uc010vxd.1 + 10 1343 c.964C>T c.(964-966)CGC>TGC p.R322C LRRC48_uc002gsa.2_Missense_Mutation_p.R322C|LRRC48_uc010vxc.1_Missense_Mutation_p.R322C|LRRC48_uc002gsb.2_Missense_Mutation_p.R322C|LRRC48_uc010vxe.1_RNA NM_001130090 NP_001123562 Q9H069 LRC48_HUMAN leucine rich repeat containing 48 isoform a 322 cytoplasm pancreas(1) 1 all_neural(463;0.228) GCAGGGCAAACGCAAGATTGC 0.567000 CYTSB 92521 broad.mit.edu 37 17 20108508 20108508 + Missense_Mutation SNP A A C TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chr17:20108508A>C uc002gwq.2 + 4 1291 c.1146A>C c.(1144-1146)GAA>GAC p.E382D CYTSB_uc010cqx.2_Missense_Mutation_p.E382D|CYTSB_uc002gwr.2_Missense_Mutation_p.E382D|CYTSB_uc002gws.2_Missense_Mutation_p.E382D|CYTSB_uc002gwv.2_Missense_Mutation_p.E301D|CYTSB_uc010vzf.1_Intron|CYTSB_uc002gww.2_Missense_Mutation_p.E158D|CYTSB_uc002gwt.2_Missense_Mutation_p.E301D|CYTSB_uc002gwu.2_Missense_Mutation_p.E301D NM_001033553 NP_001028725 Q5M775 CYTSB_HUMAN spectrin domain with coiled-coils 1 NSP5b3b 382 E -> G (in Ref. 2; AAW29999/AAW30000/ AAW30002). nucleus 0 AGATGGAAGAAAACCACCATA 0.438000 PROCA1 147011 broad.mit.edu 37 17 27031404 27031404 + Missense_Mutation SNP T T G TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chr17:27031404T>G uc002hcb.3 - 4 486 c.283A>C c.(283-285)ACC>CCC p.T95P PROCA1_uc010crv.2_Missense_Mutation_p.T21P|PROCA1_uc002hca.1_Missense_Mutation_p.T93P NM_152465 NP_689678 Q8NCQ7 PRCA1_HUMAN protein interacting with cyclin A1 121 lipid catabolic process calcium ion binding|phospholipase A2 activity ovary(1) 1 Lung NSC(42;0.00431) TGGGAGCAGGTTGGGCCCGCG 0.642000 CDK12 51755 broad.mit.edu 37 17 37627139 37627139 + Missense_Mutation SNP T T G TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chr17:37627139T>G uc010cvv.2 + 2 1640 c.1054T>G c.(1054-1056)TCC>GCC p.S352A CDK12_uc010wef.1_Missense_Mutation_p.S351A|CDK12_uc002hrw.3_Missense_Mutation_p.S352A NM_016507 NP_057591 Q9NYV4 CDK12_HUMAN Cdc2-related kinase, arginine/serine-rich 352 mRNA processing|phosphorylation of RNA polymerase II C-terminal domain|protein autophosphorylation|regulation of MAP kinase activity|RNA splicing nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck|nucleolus ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity p.S352F(1) ovary(10)|lung(4)|breast(2)|skin(2)|large_intestine(1) 19 CAGTAGGAAATCCATGAAGTC 0.353000 TCGA Ovarian(9;0.13) GRB7 2886 broad.mit.edu 37 17 37901697 37901697 + Missense_Mutation SNP T T C TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chr17:37901697T>C uc002hsr.2 + 11 1365 c.1115T>C c.(1114-1116)CTG>CCG p.L372P GRB7_uc002hss.2_Missense_Mutation_p.L372P|GRB7_uc010cwc.2_Missense_Mutation_p.L372P|GRB7_uc002hst.2_Missense_Mutation_p.L372P NM_005310 NP_005301 Q14451 GRB7_HUMAN growth factor receptor-bound protein 7 372 blood coagulation|epidermal growth factor receptor signaling pathway|leukocyte migration|negative regulation of translation|positive regulation of cell migration|stress granule assembly cytosol|focal adhesion|stress granule phosphatidylinositol binding|protein kinase binding|SH3/SH2 adaptor activity lung(2)|ovary(1)|breast(1)|skin(1) 5 all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052) UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;6.86e-60)|all cancers(3;1.65e-53)|BRCA - Breast invasive adenocarcinoma(8;2.03e-43)|STAD - Stomach adenocarcinoma(3;1.43e-12)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171) GATAATACCCTGGTGGCCATG 0.622000 KRT40 125115 broad.mit.edu 37 17 39140420 39140420 + Missense_Mutation SNP C C T TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chr17:39140420C>T uc010cxh.1 - 3 267 c.106G>A c.(106-108)GGT>AGT p.G36S KRT40_uc002hvq.1_RNA NM_182497 NP_872303 Q6A162 K1C40_HUMAN type I hair keratin KA36 36 Head. intermediate filament structural molecule activity 0 Breast(137;0.00043) GCACAGGTACCGGGGAGACAA 0.572000 KRT34 3885 broad.mit.edu 37 17 39535633 39535633 + Missense_Mutation SNP T T C TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chr17:39535633T>C uc002hwm.2 - 5 986 c.974A>G c.(973-975)GAG>GGG p.E325G NM_021013 NP_066293 O76011 KRT34_HUMAN keratin 34 325 Rod.|Coil 2. epidermis development intermediate filament protein binding|structural molecule activity central_nervous_system(1) 1 Breast(137;0.000496) CAGCTCGATCTCCAGGGCGTT 0.607000 RND2 8153 broad.mit.edu 37 17 41180175 41180175 + Missense_Mutation SNP T T A TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chr17:41180175T>A uc002icn.2 + 4 505 c.398T>A c.(397-399)CTG>CAG p.L133Q NM_005440 NP_005431 P52198 RND2_HUMAN Rho family GTPase 2 precursor 133 small GTPase mediated signal transduction acrosomal membrane GTP binding|GTPase activity 0 Breast(137;0.000717) BRCA - Breast invasive adenocarcinoma(366;0.156) CTGAGGGAGCTGTCCAAGCAG 0.562000 SLC4A1 6521 broad.mit.edu 37 17 42338113 42338113 + Missense_Mutation SNP C C T TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chr17:42338113C>T uc002igf.3 - 5 388 c.239G>A c.(238-240)CGC>CAC p.R80H SLC4A1_uc002igg.3_Missense_Mutation_p.R80H NM_000342 NP_000333 P02730 B3AT_HUMAN solute carrier family 4, anion exchanger, member 80 Cytoplasmic. bicarbonate transport|cellular ion homeostasis basolateral plasma membrane|cortical cytoskeleton|integral to plasma membrane|Z disc ankyrin binding|chloride transmembrane transporter activity|inorganic anion exchanger activity|protein anchor|protein homodimerization activity ovary(1)|central_nervous_system(1)|skin(1) 3 Breast(137;0.014)|Prostate(33;0.0181) BRCA - Breast invasive adenocarcinoma(366;0.115) TTGCACCCAGCGCGCCGCCTC 0.617000 CCDC43 124808 broad.mit.edu 37 17 42756257 42756257 + Missense_Mutation SNP T T G TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chr17:42756257T>G uc002ihc.2 - 5 686 c.642A>C c.(640-642)AAA>AAC p.K214N CCDC43_uc010czw.1_3'UTR NM_144609 NP_653210 Q96MW1 CCD43_HUMAN coiled-coil domain containing 43 isoform 1 214 Potential. 0 Prostate(33;0.0322) GTGTCCTTTTTTTTTCCTTTT 0.473000 OSBPL7 114881 broad.mit.edu 37 17 45896428 45896428 + Missense_Mutation SNP C C T TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chr17:45896428C>T uc002ilx.1 - 5 496 c.293G>A c.(292-294)CGG>CAG p.R98Q OSBPL7_uc002ilw.1_5'Flank NM_145798 NP_665741 Q9BZF2 OSBL7_HUMAN oxysterol-binding protein-like protein 7 98 PH. lipid transport lipid binding 0 GACCGACAGCCGGACATCGAT 0.557000 SNX11 29916 broad.mit.edu 37 17 46189961 46189961 + Missense_Mutation SNP A A G TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chr17:46189961A>G uc002inf.1 + 4 422 c.68A>G c.(67-69)GAC>GGC p.D23G SNX11_uc010wlg.1_Missense_Mutation_p.D15G|SNX11_uc010wlh.1_Missense_Mutation_p.D15G|SNX11_uc010wli.1_5'UTR|SNX11_uc010wlj.1_Intron|SNX11_uc002ing.1_Missense_Mutation_p.D23G|SNX11_uc002inh.1_Missense_Mutation_p.D23G NM_152244 NP_689450 Q9Y5W9 SNX11_HUMAN sorting nexin 11 23 PX. cell communication|protein transport membrane phosphatidylinositol binding 0 CGTGTTCAGGACCCCCGAGTG 0.488000 HOXB1 3211 broad.mit.edu 37 17 46607133 46607133 + Silent SNP G G A TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chr17:46607133G>A uc002ink.1 - 2 688 c.682C>T c.(682-684)CTG>TTG p.L228L NM_002144 NP_002135 P14653 HXB1_HUMAN homeobox B1 228 Homeobox. nucleus protein domain specific binding|sequence-specific DNA binding transcription factor activity ovary(1) 1 GCCCGGCTCAGGTACTTGTTG 0.572000 B4GALNT2 124872 broad.mit.edu 37 17 47241594 47241594 + Missense_Mutation SNP T T C TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chr17:47241594T>C uc002ion.2 + 8 1150 c.1091T>C c.(1090-1092)ATT>ACT p.I364T B4GALNT2_uc010wlt.1_Missense_Mutation_p.I278T|B4GALNT2_uc010wlu.1_Missense_Mutation_p.I304T NM_153446 NP_703147 Q8NHY0 B4GN2_HUMAN beta-1,4-N-acetyl-galactosaminyl transferase 2 364 Lumenal (Potential). lipid glycosylation|negative regulation of cell-cell adhesion|UDP-N-acetylgalactosamine metabolic process integral to Golgi membrane acetylgalactosaminyltransferase activity large_intestine(1)|ovary(1) 2 all cancers(6;0.000316) CCCCTGGAAATTAAAGACAAT 0.522000 DLX3 1747 broad.mit.edu 37 17 48069187 48069187 + Missense_Mutation SNP T T G TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chr17:48069187T>G uc002ipy.2 - 3 784 c.558A>C c.(556-558)AAA>AAC p.K186N NM_005220 NP_005211 O60479 DLX3_HUMAN distal-less homeobox 3 186 Homeobox. nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity 0 TCTTGTAGAGTTTCTTGAACT 0.532000 EPN3 55040 broad.mit.edu 37 17 48614290 48614290 + Missense_Mutation SNP G G A rs141972412 TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chr17:48614290G>A uc002ira.3 + 2 808 c.373G>A c.(373-375)GAG>AAG p.E125K EPN3_uc010wms.1_Missense_Mutation_p.E180K|EPN3_uc010wmt.1_RNA|EPN3_uc010wmu.1_Missense_Mutation_p.E125K NM_017957 NP_060427 Q9H201 EPN3_HUMAN epsin 3 125 ENTH. clathrin-coated vesicle|nucleus|perinuclear region of cytoplasm lipid binding ovary(1) 1 Breast(11;1.23e-18) BRCA - Breast invasive adenocarcinoma(22;2.88e-09) CAACGTGCGCGAGAAGGTCAA 0.637000 MRC2 9902 broad.mit.edu 37 17 60741993 60741993 + Missense_Mutation SNP G G C TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chr17:60741993G>C uc002jad.2 + 2 605 c.203G>C c.(202-204)TGC>TCC p.C68S MRC2_uc002jac.2_Missense_Mutation_p.C68S NM_006039 NP_006030 Q9UBG0 MRC2_HUMAN mannose receptor, C type 2 68 Extracellular (Potential).|Ricin B-type lectin. endocytosis integral to membrane receptor activity|sugar binding ovary(1)|central_nervous_system(1)|skin(1) 3 ACCCCGGCTTGCAATACCAGC 0.637000 ABCA5 23461 broad.mit.edu 37 17 67250625 67250625 + Missense_Mutation SNP A A C TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chr17:67250625A>C uc002jif.2 - 31 5293 c.4075T>G c.(4075-4077)TTA>GTA p.L1359V ABCA5_uc002jib.2_Missense_Mutation_p.L325V|ABCA5_uc002jic.2_Missense_Mutation_p.L582V|ABCA5_uc002jid.2_Missense_Mutation_p.L276V|ABCA5_uc002jie.2_RNA|ABCA5_uc002jig.2_Missense_Mutation_p.L1359V NM_018672 NP_061142 Q8WWZ7 ABCA5_HUMAN ATP-binding cassette, sub-family A , member 5 1359 ABC transporter 2. cholesterol efflux|high-density lipoprotein particle remodeling|negative regulation of macrophage derived foam cell differentiation Golgi membrane|integral to membrane|late endosome membrane|lysosomal membrane ATP binding|ATPase activity ovary(2)|central_nervous_system(1)|skin(1) 4 Breast(10;3.72e-11) TAATCTCCTAAAAATACCTAT 0.358000 KCNJ16 3773 broad.mit.edu 37 17 68129047 68129047 + Missense_Mutation SNP A A C TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chr17:68129047A>C uc002jin.2 + 5 1305 c.819A>C c.(817-819)AAA>AAC p.K273N KCNJ16_uc002jio.2_Missense_Mutation_p.K273N|KCNJ16_uc002jip.2_Missense_Mutation_p.K273N|KCNJ16_uc002jiq.2_Missense_Mutation_p.K305N NM_018658 NP_061128 Q9NPI9 IRK16_HUMAN potassium inwardly-rectifying channel J16 273 Cytoplasmic (By similarity). synaptic transmission voltage-gated potassium channel complex inward rectifier potassium channel activity ovary(1)|central_nervous_system(1)|skin(1) 3 Breast(10;2.96e-09) CAGTAGCCAAAGATAACTTTG 0.448000 C1QTNF1 114897 broad.mit.edu 37 17 77043792 77043793 + Missense_Mutation DNP GC GC AT TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chr17:77043792_77043793GC>AT uc002jwp.2 + 4 808_809 c.468_469GC>AT c.(466-471)ATGCAC>ATATAC p.156_157MH>IY C1QTNF1_uc002jwq.2_Missense_Mutation_p.74_75MH>IY|C1QTNF1_uc002jwr.3_Missense_Mutation_p.166_167MH>IY|C1QTNF1_uc002jws.2_Missense_Mutation_p.156_157MH>IY|C1QTNF1_uc002jwt.2_Missense_Mutation_p.254_255MH>IY NM_030968 NP_112230 Q9BXJ1 C1QT1_HUMAN C1q and tumor necrosis factor related protein 1 156_157 C1q. collagen ovary(1) 1 BRCA - Breast invasive adenocarcinoma(99;0.0294)|OV - Ovarian serous cystadenocarcinoma(97;0.201) AGAAGCCCATGCACAGCAACCA 0.599000 RNF213 57674 broad.mit.edu 37 17 78324165 78324165 + Missense_Mutation SNP A A T TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chr17:78324165A>T uc002jyh.1 + 6 4595 c.4372A>T c.(4372-4374)ATC>TTC p.I1458F NM_020914 NP_065965 Q9HCF4 ALO17_HUMAN ring finger protein 213 Error:Variant_position_missing_in_Q9HCF4_after_alignment ovary(8)|lung(6)|breast(3)|large_intestine(2)|central_nervous_system(1)|pancreas(1) 21 all_neural(118;0.0538) BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057) TGAAGATGGAATCCGTAGCGC 0.353000 MAPRE2 10982 broad.mit.edu 37 18 32707044 32707044 + Missense_Mutation SNP A A C TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chr18:32707044A>C uc002kyg.2 + 5 923 c.743A>C c.(742-744)AAT>ACT p.N248T MAPRE2_uc010xcb.1_Missense_Mutation_p.N205T|MAPRE2_uc010xcc.1_Missense_Mutation_p.N236T|MAPRE2_uc002kyf.2_Missense_Mutation_p.N248T|MAPRE2_uc002kyh.2_Missense_Mutation_p.N195T|MAPRE2_uc010xcd.1_Missense_Mutation_p.N205T NM_014268 NP_055083 Q15555 MARE2_HUMAN microtubule-associated protein, RP/EB family, 248 DCTN1-binding.|EB1 C-terminal. cell division|cell proliferation|mitosis|signal transduction cytoplasm|microtubule microtubule binding ovary(1) 1 ATACAGCTTAATGAACAGGTA 0.527000 ZNF532 55205 broad.mit.edu 37 18 56587298 56587298 + Silent SNP A A G TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chr18:56587298A>G uc002lho.2 + 4 2326 c.1779A>G c.(1777-1779)CCA>CCG p.P593P ZNF532_uc002lhp.2_Silent_p.P591P|ZNF532_uc010xeg.1_Silent_p.P591P|ZNF532_uc002lhr.2_Silent_p.P591P|ZNF532_uc002lhs.2_Silent_p.P591P NM_018181 NP_060651 Q9HCE3 ZN532_HUMAN zinc finger protein 532 593 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|skin(1) 2 GTGTCAATCCAGTCCCTGTTT 0.557000 ZNF407 55628 broad.mit.edu 37 18 72344603 72344603 + Missense_Mutation SNP T T C TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chr18:72344603T>C uc002llw.2 + 1 1685 c.1628T>C c.(1627-1629)TTG>TCG p.L543S ZNF407_uc010xfc.1_Missense_Mutation_p.L543S|ZNF407_uc010dqu.1_Missense_Mutation_p.L543S|ZNF407_uc002llu.2_Missense_Mutation_p.L542S NM_017757 NP_060227 Q9C0G0 ZN407_HUMAN zinc finger protein 407 isoform 1 543 C2H2-type 4. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(2) 2 Esophageal squamous(42;0.131)|Prostate(75;0.173) BRCA - Breast invasive adenocarcinoma(31;0.184) AGGACAGATTTGGAAATCCAT 0.463000 JSRP1 126306 broad.mit.edu 37 19 2252554 2252554 + Missense_Mutation SNP T T G TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chr19:2252554T>G uc002lvi.1 - 6 805 c.770A>C c.(769-771)AAG>ACG p.K257T JSRP1_uc002lvj.1_Missense_Mutation_p.K257T NM_144616 NP_653217 Q96MG2 JSPR1_HUMAN junctional sarcoplasmic reticulum protein 1 257 Arg-rich. sarcoplasmic reticulum membrane pancreas(1) 1 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) CCTCTCTTTCTTAGGTCTCTC 0.706000 SPPL2B 56928 broad.mit.edu 37 19 2337467 2337467 + Missense_Mutation SNP C C T TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chr19:2337467C>T uc002lvs.2 + 3 292 c.212C>T c.(211-213)ACG>ATG p.T71M SPPL2B_uc010dsw.1_Missense_Mutation_p.T43M|SPPL2B_uc010dsy.1_Missense_Mutation_p.T43M|SPPL2B_uc010dsz.1_Missense_Mutation_p.T71M|SPPL2B_uc002lvr.2_Missense_Mutation_p.T71M|SPPL2B_uc010dta.1_5'Flank|SPPL2B_uc002lvu.2_5'Flank NM_152988 NP_694533 Q8TCT7 PSL1_HUMAN signal peptide peptidase-like 2B isoform 2 71 Cytoplasmic (Potential).|PA. Golgi membrane|integral to membrane aspartic-type endopeptidase activity 0 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) CGCAACTGGACGGCCTCCCTG 0.642000 MAP2K2 5605 broad.mit.edu 37 19 4117551 4117551 + Missense_Mutation SNP A A C rs121434498 TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chr19:4117551A>C uc002lzk.2 - 2 423 c.169T>G c.(169-171)TTT>GTT p.F57V NM_030662 NP_109587 P36507 MP2K2_HUMAN mitogen-activated protein kinase kinase 2 57 F -> C (in CFC syndrome). activation of MAPK activity|activation of MAPKK activity|axon guidance|epidermal growth factor receptor signaling pathway|ERK1 and ERK2 cascade|innate immune response|insulin receptor signaling pathway|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|Ras protein signal transduction|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|extracellular region ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity 0 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0149)|STAD - Stomach adenocarcinoma(1328;0.18) TGGGTGAGAAAGGCTTCCAGC 0.597000 Cardiofaciocutaneous_syndrome KDM4B 23030 broad.mit.edu 37 19 5135478 5135478 + Silent SNP G G A TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chr19:5135478G>A uc002mbq.3 + 15 2440 c.2214G>A c.(2212-2214)GAG>GAA p.E738E KDM4B_uc010xim.1_Silent_p.E772E|KDM4B_uc002mbr.3_Silent_p.E496E NM_015015 NP_055830 O94953 KDM4B_HUMAN jumonji domain containing 2B 738 PHD-type 1. chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding lung(1) 1 CTGGCGGTGAGAACACGGAGC 0.637000 PTPRS 5802 broad.mit.edu 37 19 5244113 5244113 + Missense_Mutation SNP T T C TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chr19:5244113T>C uc002mbv.2 - 11 1603 c.1369A>G c.(1369-1371)ATC>GTC p.I457V PTPRS_uc002mbu.1_Missense_Mutation_p.I444V|PTPRS_uc010xin.1_Missense_Mutation_p.I444V|PTPRS_uc002mbw.2_Missense_Mutation_p.I444V|PTPRS_uc002mbx.2_Missense_Mutation_p.I448V|PTPRS_uc002mby.2_Missense_Mutation_p.I444V NM_002850 NP_002841 Q13332 PTPRS_HUMAN protein tyrosine phosphatase, receptor type, 457 Extracellular (Potential).|Fibronectin type-III 2. cell adhesion integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity large_intestine(2)|ovary(1)|central_nervous_system(1) 4 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182) TAGCCGCGGATCAGGCCGTTG 0.682000 FBN3 84467 broad.mit.edu 37 19 8167646 8167646 + Nonsense_Mutation SNP C C T TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chr19:8167646C>T uc002mjf.2 - 39 5072 c.5051G>A c.(5050-5052)TGG>TAG p.W1684* NM_032447 NP_115823 Q75N90 FBN3_HUMAN fibrillin 3 precursor 1684 TB 7. proteinaceous extracellular matrix calcium ion binding|extracellular matrix structural constituent ovary(6)|skin(3)|pancreas(1)|central_nervous_system(1) 11 GGGTCTATTCCAGGCCTGGCC 0.542000 FBN3 84467 broad.mit.edu 37 19 8196690 8196690 + Missense_Mutation SNP C C T rs143761441 TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chr19:8196690C>T uc002mjf.2 - 14 1759 c.1738G>A c.(1738-1740)GGC>AGC p.G580S NM_032447 NP_115823 Q75N90 FBN3_HUMAN fibrillin 3 precursor 580 EGF-like 7; calcium-binding. proteinaceous extracellular matrix calcium ion binding|extracellular matrix structural constituent ovary(6)|skin(3)|pancreas(1)|central_nervous_system(1) 11 ACGCAGATGCCGGGCGTCTGG 0.552000 MUC16 94025 broad.mit.edu 37 19 9048508 9048508 + Silent SNP C C T TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chr19:9048508C>T uc002mkp.2 - 5 33327 c.33123G>A c.(33121-33123)GTG>GTA p.V11041V NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 11043 Thr-rich.|Extracellular (Potential). cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1) 57 GAGAGGTCACCACTCCTGGTA 0.488000 MUC16 94025 broad.mit.edu 37 19 9069337 9069337 + Missense_Mutation SNP C C T TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chr19:9069337C>T uc002mkp.2 - 3 18313 c.18109G>A c.(18109-18111)GGA>AGA p.G6037R NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 6039 Thr-rich.|Extracellular (Potential). cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1) 57 GGTGTGTGTCCGGATGGCTGG 0.448000 MUC16 94025 broad.mit.edu 37 19 9076788 9076788 + Missense_Mutation SNP G G A TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chr19:9076788G>A uc002mkp.2 - 3 10862 c.10658C>T c.(10657-10659)ACC>ATC p.T3553I NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 3554 Thr-rich.|Extracellular (Potential). cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1) 57 GTTGGGTGTGGTAGTTGAGAT 0.547000 MUC16 94025 broad.mit.edu 37 19 9086693 9086693 + Missense_Mutation SNP T T G TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chr19:9086693T>G uc002mkp.2 - 1 5326 c.5122A>C c.(5122-5124)ACT>CCT p.T1708P NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 1708 Ser-rich.|Thr-rich.|Extracellular (Potential). cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1) 57 CCTTCAGTAGTTGACTCAGAA 0.488000 MUC16 94025 broad.mit.edu 37 19 9090185 9090185 + Missense_Mutation SNP T T C TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chr19:9090185T>C uc002mkp.2 - 1 1834 c.1630A>G c.(1630-1632)AAA>GAA p.K544E NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 544 Thr-rich.|Extracellular (Potential). cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1) 57 CTCTCTGTTTTCATGCTAGGA 0.532000 ZNF560 147741 broad.mit.edu 37 19 9577597 9577597 + Missense_Mutation SNP T T G TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chr19:9577597T>G uc002mlp.1 - 10 2236 c.2026A>C c.(2026-2028)AAA>CAA p.K676Q ZNF560_uc010dwr.1_Missense_Mutation_p.K570Q NM_152476 NP_689689 Q96MR9 ZN560_HUMAN zinc finger protein 560 676 C2H2-type 12. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding skin(2)|ovary(1)|large_intestine(1)|pancreas(1)|liver(1) 6 GCATGAGTTTTTAAGTGTTGA 0.358000 ZNF846 162993 broad.mit.edu 37 19 9868802 9868802 + Silent SNP T T C TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chr19:9868802T>C uc002mmb.1 - 6 1482 c.951A>G c.(949-951)AAA>AAG p.K317K ZNF846_uc010xky.1_RNA|ZNF846_uc010xkz.1_RNA|ZNF846_uc010dww.2_Silent_p.K188K|ZNF846_uc002mmc.1_Silent_p.K188K NM_001077624 NP_001071092 Q147U1 ZN846_HUMAN zinc finger protein 846 317 C2H2-type 7. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 TAGTGAAGGCTTTTCCACATT 0.398000 OLFM2 93145 broad.mit.edu 37 19 9967528 9967528 + Silent SNP G G A TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chr19:9967528G>A uc002mmp.2 - 5 670 c.642C>T c.(640-642)TTC>TTT p.F214F OLFM2_uc002mmo.2_Silent_p.F136F NM_058164 NP_477512 O95897 NOE2_HUMAN olfactomedin 2 precursor 214 Olfactomedin-like. extracellular region large_intestine(1)|skin(1) 2 TCCAGGAGCCGAAGCGGGACC 0.652000 DNM2 1785 broad.mit.edu 37 19 10908118 10908118 + Missense_Mutation SNP T T C TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chr19:10908118T>C uc002mps.1 + 10 1423 c.1259T>C c.(1258-1260)CTC>CCC p.L420P DNM2_uc010dxk.2_RNA|DNM2_uc002mpt.1_Intron|DNM2_uc002mpv.1_Missense_Mutation_p.L420P|DNM2_uc002mpu.1_Intron|DNM2_uc010dxl.1_Intron|DNM2_uc002mpw.2_Missense_Mutation_p.L153P NM_001005361 NP_001005361 P50570 DYN2_HUMAN dynamin 2 isoform 2 420 G2/M transition of mitotic cell cycle|positive regulation of apoptosis|positive regulation of transcription, DNA-dependent|post-Golgi vesicle-mediated transport|receptor internalization|signal transduction|synaptic vesicle transport|transferrin transport cell junction|cytosol|Golgi membrane|microtubule|postsynaptic density|postsynaptic membrane GTP binding|GTPase activity|microtubule binding central_nervous_system(2)|skin(2)|ovary(1)|breast(1) 6 Epithelial(33;4.17e-05)|all cancers(31;8.48e-05) ATTGTAAAACTCAAAGAGCCG 0.502000 ZNF823 55552 broad.mit.edu 37 19 11832957 11832957 + Silent SNP A A G TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chr19:11832957A>G uc002msm.2 - 4 1518 c.1392T>C c.(1390-1392)ACT>ACC p.T464T ZNF823_uc010xmd.1_Silent_p.T282T|ZNF823_uc010dyi.1_Silent_p.T420T NM_001080493 NP_001073962 P16415 ZN823_HUMAN ZFP-36 for a zinc finger protein 464 C2H2-type 11; atypical. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(2) 2 CTCCAGTGTGAGTTGTCTCAT 0.403000 HNSCC(68;0.2) ZNF20 7568 broad.mit.edu 37 19 12246374 12246374 + Silent SNP T T C TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chr19:12246374T>C uc002mtf.1 - 3 284 c.141A>G c.(139-141)GGA>GGG p.G47G ZNF20_uc002mte.1_Silent_p.G12G|ZNF20_uc002mtg.1_Silent_p.G47G NM_021143 NP_066966 P17024 ZNF20_HUMAN zinc finger protein 20 47 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 TCCATGTTTTTCCTAAAACAC 0.358000 ZNF564 163050 broad.mit.edu 37 19 12637395 12637395 + Missense_Mutation SNP T T G TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chr19:12637395T>G uc002mty.2 - 4 1737 c.1527A>C c.(1525-1527)CAA>CAC p.Q509H ZNF709_uc002mtx.3_Intron NM_144976 NP_659413 Q8TBZ8 ZN564_HUMAN zinc finger protein 564 509 C2H2-type 15. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 TTTTTCCACATTGCTTACATT 0.353000 DDX39 10212 broad.mit.edu 37 19 14521953 14521953 + Missense_Mutation SNP T T A TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chr19:14521953T>A uc010xnp.1 - 5 506 c.461A>T c.(460-462)AAG>ATG p.K154M DDX39_uc002myo.2_Missense_Mutation_p.K154M|DDX39_uc010dzl.2_RNA|DDX39_uc010dzm.1_Missense_Mutation_p.K154M NM_005804 NP_005795 O00148 DX39A_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 39 154 Helicase ATP-binding. mRNA export from nucleus|nuclear mRNA splicing, via spliceosome nucleus ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding 0 TTCATCCTTCTTGATGGAGAG 0.587000 EMR3 84658 broad.mit.edu 37 19 14758024 14758024 + Missense_Mutation SNP T T C TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chr19:14758024T>C uc002mzi.3 - 8 999 c.851A>G c.(850-852)AAG>AGG p.K284R EMR3_uc010dzp.2_Missense_Mutation_p.K232R|EMR3_uc010xnv.1_Missense_Mutation_p.K158R NM_032571 NP_115960 Q9BY15 EMR3_HUMAN egf-like module-containing mucin-like receptor 284 Extracellular (Potential). neuropeptide signaling pathway extracellular space|integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity ovary(5)|skin(1) 6 CGTCACAGACTTGGAGAGAGA 0.468000 TSSK6 83983 broad.mit.edu 37 19 19625642 19625642 + Missense_Mutation SNP C C T TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chr19:19625642C>T uc002nmr.2 - 1 828 c.595G>A c.(595-597)GGC>AGC p.G199S TSSK6_uc002nmq.2_RNA|NDUFA13_uc002nms.2_5'Flank|NDUFA13_uc010xqx.1_5'Flank|NDUFA13_uc010xqy.1_5'Flank NM_032037 NP_114426 Q9BXA6 TSSK6_HUMAN testis-specific serine kinase 6 199 Protein kinase. multicellular organismal development|sperm chromatin condensation ATP binding|magnesium ion binding|protein serine/threonine kinase activity stomach(1) 1 AGCACGACGCCCATGCTCCAC 0.657000 ZNF14 7561 broad.mit.edu 37 19 19822523 19822523 + Missense_Mutation SNP T T G TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chr19:19822523T>G uc002nnk.1 - 4 1721 c.1567A>C c.(1567-1569)AAA>CAA p.K523Q NM_021030 NP_066358 P17017 ZNF14_HUMAN zinc finger protein 14 523 C2H2-type 15. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(3) 3 Renal(1328;0.0474) GTGTGAATTTTTTCATGTTCT 0.408000 ZNF43 7594 broad.mit.edu 37 19 21991547 21991547 + Missense_Mutation SNP C C T TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chr19:21991547C>T uc002nqj.2 - 4 1422 c.1292G>A c.(1291-1293)TGT>TAT p.C431Y ZNF43_uc010ecv.2_Missense_Mutation_p.C425Y|ZNF43_uc002nql.2_Missense_Mutation_p.C425Y|ZNF43_uc002nqm.2_Missense_Mutation_p.C425Y|ZNF43_uc002nqk.2_Missense_Mutation_p.C361Y NM_003423 NP_003414 P17038 ZNF43_HUMAN zinc finger protein 43 431 C2H2-type 10. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding large_intestine(1)|ovary(1) 2 Renal(1328;0.000219)|Hepatocellular(1079;0.121) GBM - Glioblastoma multiforme(1328;5.97e-05)|STAD - Stomach adenocarcinoma(1328;0.0127) GGCTTTGCCACATTCTTCACA 0.388000 ZNF208 7757 broad.mit.edu 37 19 22156857 22156857 + Missense_Mutation SNP T T C TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chr19:22156857T>C uc002nqp.2 - 4 1128 c.979A>G c.(979-981)ACC>GCC p.T327A ZNF208_uc002nqo.1_Intron|ZNF208_uc010ecw.1_5'Flank NM_007153 NP_009084 zinc finger protein 208 ovary(5)|skin(2) 7 all_lung(12;0.0961)|Lung NSC(12;0.103) GTAATAAGGGTTGAGACCTTA 0.393000 ZNF257 113835 broad.mit.edu 37 19 22270892 22270892 + Missense_Mutation SNP A A G TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chr19:22270892A>G uc010ecx.2 + 4 509 c.340A>G c.(340-342)AGA>GGA p.R114G ZNF257_uc010ecy.2_Missense_Mutation_p.R82G NM_033468 NP_258429 Q9Y2Q1 ZN257_HUMAN zinc finger protein 257 114 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 all_lung(12;0.0961)|Lung NSC(12;0.103) TTTACAATTAAGAAAGGGCTG 0.358000 ZNF181 339318 broad.mit.edu 37 19 35232041 35232041 + Missense_Mutation SNP T T G TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chr19:35232041T>G uc002nvu.3 + 4 1218 c.755T>G c.(754-756)CTC>CGC p.L252R ZNF181_uc010xsa.1_Missense_Mutation_p.L251R|ZNF181_uc010xsb.1_Missense_Mutation_p.L251R|ZNF181_uc010xsc.1_Missense_Mutation_p.L187R NM_001029997 NP_001025168 Q2M3W8 ZN181_HUMAN zinc finger protein 181 isoform 1 252 C2H2-type 1. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 all_lung(56;1.13e-07)|Lung NSC(56;1.81e-07)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.138) CAGTCAATCCTCAATCGCCAC 0.448000 FFAR1 2864 broad.mit.edu 37 19 35842879 35842879 + Missense_Mutation SNP T T G TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chr19:35842879T>G uc002nzc.2 + 1 435 c.425T>G c.(424-426)TTT>TGT p.F142C NM_005303 NP_005294 O14842 FFAR1_HUMAN free fatty acid receptor 1 142 Helical; Name=4; (Potential). energy reserve metabolic process|regulation of insulin secretion integral to plasma membrane G-protein coupled receptor activity|guanyl-nucleotide exchange factor activity|lipid binding central_nervous_system(1) 1 all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162) Epithelial(14;4.58e-20)|OV - Ovarian serous cystadenocarcinoma(14;6.67e-19)|all cancers(14;2.01e-17)|LUSC - Lung squamous cell carcinoma(66;0.0417) Icosapent(DB00159) GGTCTGGTCTTTGGGTTGGAG 0.662000 ZNF585A 199704 broad.mit.edu 37 19 37642537 37642537 + Missense_Mutation SNP A A C TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chr19:37642537A>C uc002ofo.1 - 5 2495 c.2264T>G c.(2263-2265)TTC>TGC p.F755C ZNF585A_uc002ofm.1_Missense_Mutation_p.F700C|ZNF585A_uc002ofn.1_Missense_Mutation_p.F700C NM_199126 NP_954577 Q6P3V2 Z585A_HUMAN zinc finger protein 585A 755 C2H2-type 22. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding|zinc ion binding ovary(1)|central_nervous_system(1)|skin(1) 3 COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) TTTCTGAACGAAGCCTTTCCC 0.488000 ZNF780A 284323 broad.mit.edu 37 19 40580508 40580508 + Missense_Mutation SNP T T C TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chr19:40580508T>C uc002omy.2 - 6 2066 c.1841A>G c.(1840-1842)GAA>GGA p.E614G ZNF780A_uc002omw.3_Intron|ZNF780A_uc002omz.2_Missense_Mutation_p.E614G|ZNF780A_uc010xvh.1_Missense_Mutation_p.E615G NM_001010880 NP_001010880 O75290 Z780A_HUMAN zinc finger protein 780A isoform b 614 C2H2-type 17. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925) TTCCTTACATTCAAAGGGTTT 0.418000 CYP2A13 1553 broad.mit.edu 37 19 41596320 41596320 + Missense_Mutation SNP G G A rs146392271 TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chr19:41596320G>A uc002opt.2 + 4 514 c.505G>A c.(505-507)GAT>AAT p.D169N NM_000766 NP_000757 Q16696 CP2AD_HUMAN cytochrome P450, family 2, subfamily A, 169 xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|coumarin 7-hydroxylase activity|electron carrier activity|heme binding ovary(2)|skin(1) 3 Clomipramine(DB01242)|Nicotine(DB00184) CGCCAATATCGATCCCACCTT 0.552000 ZNF223 7766 broad.mit.edu 37 19 44564948 44564948 + Missense_Mutation SNP A A C TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chr19:44564948A>C uc002oyf.1 + 4 442 c.189A>C c.(187-189)GAA>GAC p.E63D ZNF284_uc010ejd.2_RNA NM_013361 NP_037493 Q9UK11 ZN223_HUMAN zinc finger protein 223 63 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 Prostate(69;0.0352) TAAGGGAGGAAAAGTTTTGGA 0.398000 ZNF225 7768 broad.mit.edu 37 19 44636097 44636097 + Missense_Mutation SNP G G A TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chr19:44636097G>A uc002oyj.1 + 5 1573 c.1330G>A c.(1330-1332)GAC>AAC p.D444N ZNF225_uc010eje.1_Missense_Mutation_p.D361N|ZNF225_uc010ejf.1_Missense_Mutation_p.D444N NM_013362 NP_037494 Q9UK10 ZN225_HUMAN zinc finger protein 225 444 C2H2-type 10. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 Prostate(69;0.0352)|all_neural(266;0.202) GTTGGATCTTGACTTTCATCA 0.453000 ZFP112 7771 broad.mit.edu 37 19 44833807 44833807 + Missense_Mutation SNP T T G TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chr19:44833807T>G uc010ejj.2 - 5 634 c.521A>C c.(520-522)TAT>TCT p.Y174S ZFP112_uc002ozc.3_Missense_Mutation_p.Y168S|ZFP112_uc010xwy.1_Missense_Mutation_p.Y191S|ZFP112_uc010xwz.1_Missense_Mutation_p.Y173S NM_001083335 NP_001076804 Q9UJU3 ZF112_HUMAN zinc finger protein 228 isoform 1 174 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(3)|skin(2) 5 CCAAGATGGATACCCTTGACT 0.368000 ZNF180 7733 broad.mit.edu 37 19 44981801 44981801 + Missense_Mutation SNP T T G TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chr19:44981801T>G uc002ozf.3 - 5 1179 c.897A>C c.(895-897)AAA>AAC p.K299N ZNF180_uc002ozh.3_5'UTR|ZNF180_uc002ozi.3_Missense_Mutation_p.K272N|ZNF180_uc002ozg.3_Missense_Mutation_p.K298N|ZNF180_uc010ejm.2_Missense_Mutation_p.K274N NM_013256 NP_037388 Q9UJW8 ZN180_HUMAN zinc finger protein 180 299 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(2) 2 Prostate(69;0.0435) AATCAAAGGTTTTTCCTCCTC 0.343000 ZNF180 7733 broad.mit.edu 37 19 44982338 44982338 + Silent SNP T T C TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chr19:44982338T>C uc002ozf.3 - 5 642 c.360A>G c.(358-360)AAA>AAG p.K120K ZNF180_uc002ozh.3_5'UTR|ZNF180_uc002ozi.3_Silent_p.K93K|ZNF180_uc002ozg.3_Silent_p.K119K|ZNF180_uc010ejm.2_Silent_p.K95K NM_013256 NP_037388 Q9UJW8 ZN180_HUMAN zinc finger protein 180 120 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(2) 2 Prostate(69;0.0435) AAGTTGAATCTTTTTTTCCAA 0.338000 PNMAL1 55228 broad.mit.edu 37 19 46973452 46973452 + Missense_Mutation SNP T T G TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chr19:46973452T>G uc002peq.3 - 2 1147 c.841A>C c.(841-843)AGC>CGC p.S281R PNMAL1_uc002per.3_Missense_Mutation_p.S281R NM_018215 NP_060685 Q86V59 PNML1_HUMAN PNMA-like 1 isoform a 281 0 Ovarian(192;0.00965)|all_neural(266;0.0459) OV - Ovarian serous cystadenocarcinoma(262;0.000166)|all cancers(93;0.0014)|GBM - Glioblastoma multiforme(486;0.0421)|Epithelial(262;0.0427) ATCGCCATGCTTTCAGCATCA 0.527000 DHDH 27294 broad.mit.edu 37 19 49447725 49447725 + Missense_Mutation SNP A A T TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chr19:49447725A>T uc002ple.1 + 6 896 c.856A>T c.(856-858)AGT>TGT p.S286C NM_014475 NP_055290 Q9UQ10 DHDH_HUMAN dimeric dihydrodiol dehydrogenase 286 carbohydrate metabolic process binding|D-xylose 1-dehydrogenase (NADP+) activity|electron carrier activity|NAD(P)+ transhydrogenase activity|trans-1,2-dihydrobenzene-1,2-diol dehydrogenase activity 0 all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261) OV - Ovarian serous cystadenocarcinoma(262;0.000158)|all cancers(93;0.000258)|Epithelial(262;0.0173)|GBM - Glioblastoma multiforme(486;0.0179) GGCAGGCATGAGTTATGAGGC 0.627000 NR1H2 7376 broad.mit.edu 37 19 50881883 50881883 + Missense_Mutation SNP T T C TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chr19:50881883T>C uc010enw.2 + 7 856 c.580T>C c.(580-582)TCA>CCA p.S194P NR1H2_uc002prv.3_RNA|NR1H2_uc002prz.3_Missense_Mutation_p.S193P|NR1H2_uc002psa.3_Missense_Mutation_p.S96P NM_007121 NP_009052 P55055 NR1H2_HUMAN nuclear receptor subfamily 1, group H, member 2 193 Poly-Ser. negative regulation of cholesterol storage|negative regulation of interferon-gamma-mediated signaling pathway|negative regulation of lipid transport|negative regulation of pinocytosis|negative regulation of transcription, DNA-dependent|positive regulation of cellular protein metabolic process|positive regulation of cholesterol efflux|positive regulation of fatty acid biosynthetic process|positive regulation of lipoprotein lipase activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of triglyceride biosynthetic process|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor cytoplasm|nucleoplasm sequence-specific DNA binding|steroid hormone receptor activity|zinc ion binding 0 all_neural(266;0.057) OV - Ovarian serous cystadenocarcinoma(262;0.00757)|GBM - Glioblastoma multiforme(134;0.0186) CAGCAGCAGCTCAGCCTCTGG 0.607000 ZNF880 400713 broad.mit.edu 37 19 52888022 52888022 + Missense_Mutation SNP A A G TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chr19:52888022A>G uc002pzc.2 + 4 1238 c.1189A>G c.(1189-1191)AAT>GAT p.N397D NM_001145434 NP_001138906 Q6PDB4 ZN880_HUMAN zinc finger protein LOC400713 397 C2H2-type 8. regulation of transcription, DNA-dependent intracellular nucleic acid binding|zinc ion binding 0 TTGTCTAACCAATCATCATAG 0.403000 ZNF808 388558 broad.mit.edu 37 19 53057134 53057134 + Missense_Mutation SNP A A C TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chr19:53057134A>C uc010epq.1 + 5 1142 c.965A>C c.(964-966)AAG>ACG p.K322T ZNF808_uc002pzq.2_RNA|ZNF808_uc010epr.1_5'Flank NM_001039886 NP_001034975 Q8N4W9 ZN808_HUMAN zinc finger protein 808 322 C2H2-type 4. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 OV - Ovarian serous cystadenocarcinoma(262;0.00501)|GBM - Glioblastoma multiforme(134;0.0213) GAGTGTGGCAAGGTCTTTCGT 0.383000 ZNF160 90338 broad.mit.edu 37 19 53571418 53571418 + Missense_Mutation SNP T T G TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chr19:53571418T>G uc010eqk.2 - 7 2785 c.2369A>C c.(2368-2370)AAA>ACA p.K790T ZNF160_uc002qaq.3_Missense_Mutation_p.K790T|ZNF160_uc002qar.3_Missense_Mutation_p.K790T NM_001102603 NP_001096073 Q9HCG1 ZN160_HUMAN zinc finger protein 160 790 C2H2-type 20. hemopoiesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(1) 1 GBM - Glioblastoma multiforme(134;0.02) CTCATTACATTTGTAACGCTT 0.448000 ZNF677 342926 broad.mit.edu 37 19 53741755 53741755 + Missense_Mutation SNP C C A TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chr19:53741755C>A uc002qbf.1 - 5 410 c.225G>T c.(223-225)GAG>GAT p.E75D ZNF677_uc002qbg.1_Missense_Mutation_p.E75D NM_182609 NP_872415 Q86XU0 ZN677_HUMAN zinc finger protein 677 75 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 GBM - Glioblastoma multiforme(134;0.00352) GGTATAATTCCTCTTTATTAT 0.348000 PRPF31 26121 broad.mit.edu 37 19 54627955 54627955 + Silent SNP C C T TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chr19:54627955C>T uc002qdh.2 + 8 1171 c.775C>T c.(775-777)CTG>TTG p.L259L PRPF31_uc010yek.1_Silent_p.L259L NM_015629 NP_056444 Q8WWY3 PRP31_HUMAN pre-mRNA processing factor 31 homolog 259 Nop. assembly of spliceosomal tri-snRNP Cajal body|MLL1 complex|nuclear speck|U4 snRNP|U4/U6 x U5 tri-snRNP complex|U4atac snRNP RNA binding|snRNP binding ovary(1) 1 all_cancers(19;0.00681)|all_epithelial(19;0.00362)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19) GCGCAAGACGCTGTCGGGCTT 0.652000 KIR3DL1 3811 broad.mit.edu 37 19 55341674 55341674 + Missense_Mutation SNP T T G TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chr19:55341674T>G uc002qhk.3 + 9 1342 c.1279T>G c.(1279-1281)TTG>GTG p.L427V KIR2DS4_uc010yfj.1_Intron|KIR2DS4_uc010yfk.1_Intron|KIR3DL1_uc010yfn.1_Missense_Mutation_p.L352V|KIR3DL1_uc010esf.2_Missense_Mutation_p.L332V|KIR3DL1_uc010yfo.1_Missense_Mutation_p.L369V|KIR3DL1_uc002qhl.3_Intron|KIR2DS4_uc010esg.1_5'Flank|KIR2DS4_uc002qhm.1_5'Flank NM_013289 NP_037421 P43629 KI3L1_HUMAN killer cell immunoglobulin-like receptor, three 427 Cytoplasmic (Potential). immune response|regulation of immune response integral to plasma membrane HLA-B specific inhibitory MHC class I receptor activity ovary(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|skin(1) 5 GBM - Glioblastoma multiforme(193;0.0192) AGATACCATCTTGTACACGGA 0.512000 KIR2DS4 3809 broad.mit.edu 37 19 55349282 55349282 + Missense_Mutation SNP C C A TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chr19:55349282C>A uc002qhm.1 + 3 368 c.322C>A c.(322-324)CCC>ACC p.P108T KIR2DS4_uc010yfj.1_Missense_Mutation_p.P101T|KIR2DS4_uc010yfk.1_RNA|KIR3DL1_uc002qhl.3_Intron|KIR2DS4_uc010esg.1_Missense_Mutation_p.P108T|KIR2DS4_uc002qhn.1_Missense_Mutation_p.P55T NM_012314 NP_036446 P43632 KI2S4_HUMAN killer cell immunoglobulin-like receptor, two 108 Extracellular (Potential). integral to plasma membrane receptor activity 0 GBM - Glioblastoma multiforme(193;0.0192) TCCTCACTCCCCCTATCAGTT 0.507000 BRSK1 84446 broad.mit.edu 37 19 55813018 55813018 + Silent SNP A A C TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chr19:55813018A>C uc002qkg.2 + 8 1094 c.817A>C c.(817-819)AGG>CGG p.R273R BRSK1_uc002qkf.2_Silent_p.R289R|BRSK1_uc002qkh.2_5'Flank NM_032430 NP_115806 Q8TDC3 BRSK1_HUMAN BR serine/threonine kinase 1 273 Protein kinase. establishment of cell polarity|G2/M transition DNA damage checkpoint|neuron differentiation|response to UV cell junction|cytoplasm|nucleus magnesium ion binding|protein serine/threonine kinase activity ovary(2)|stomach(1)|lung(1)|breast(1)|skin(1) 6 Renal(1328;0.245) BRCA - Breast invasive adenocarcinoma(297;0.209) GBM - Glioblastoma multiforme(193;0.0474) GCCCGAAAAAAGGCTCAGTGT 0.577000 NLRP9 338321 broad.mit.edu 37 19 56243492 56243492 + Missense_Mutation SNP A A C TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chr19:56243492A>C uc002qly.2 - 2 1733 c.1705T>G c.(1705-1707)TTC>GTC p.F569V NM_176820 NP_789790 Q7RTR0 NALP9_HUMAN NLR family, pyrin domain containing 9 569 cytoplasm ATP binding skin(4)|ovary(2)|breast(1) 7 Colorectal(82;0.000133)|Ovarian(87;0.133) GBM - Glioblastoma multiforme(193;0.123) ATATAAATGAAAACTTCTTCA 0.343000 ZNF211 10520 broad.mit.edu 37 19 58152729 58152729 + Missense_Mutation SNP A A G TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chr19:58152729A>G uc002qpq.2 + 3 1055 c.875A>G c.(874-876)AAA>AGA p.K292R ZNF211_uc010yhb.1_Missense_Mutation_p.K296R|ZNF211_uc002qpp.2_Missense_Mutation_p.K305R|ZNF211_uc002qpr.2_Missense_Mutation_p.K356R|ZNF211_uc002qps.2_Missense_Mutation_p.K357R|ZNF211_uc002qpt.2_Missense_Mutation_p.K304R|ZNF211_uc010yhc.1_Missense_Mutation_p.K304R|ZNF211_uc010yhd.1_Missense_Mutation_p.K231R|ZNF211_uc010yhe.1_Missense_Mutation_p.K283R NM_198855 NP_942152 Q13398 ZN211_HUMAN zinc finger protein 211 isoform 2 292 C2H2-type 3. nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(2) 2 Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026) GAATGTGGAAAATTCTTTACC 0.413000 TPO 7173 broad.mit.edu 37 2 1507813 1507813 + Missense_Mutation SNP A A T TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chr2:1507813A>T uc002qww.2 + 14 2571 c.2480A>T c.(2479-2481)GAC>GTC p.D827V TPO_uc010ewj.2_RNA|TPO_uc002qwu.2_Missense_Mutation_p.D770V|TPO_uc002qwr.2_Missense_Mutation_p.D827V|TPO_uc002qwx.2_Missense_Mutation_p.D770V|TPO_uc010yio.1_Missense_Mutation_p.D654V|TPO_uc010yip.1_Intron|TPO_uc002qwy.1_Intron|TPO_uc002qwz.2_Intron NM_000547 NP_000538 P07202 PERT_HUMAN thyroid peroxidase isoform a 827 Extracellular (Potential).|EGF-like; calcium-binding (Potential). cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process cell surface|cytoplasm|integral to plasma membrane calcium ion binding|heme binding|iodide peroxidase activity ovary(7)|pancreas(6)|skin(5)|lung(1)|kidney(1) 20 all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627) all_cancers(51;0.0338) all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12) Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550) CTCTGCGCGGACCCCTACGAG 0.572000 TAF1B 9014 broad.mit.edu 37 2 10074061 10074061 + Missense_Mutation SNP A A C TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chr2:10074061A>C uc002qzz.2 + 15 1815 c.1715A>C c.(1714-1716)AAA>ACA p.K572T TAF1B_uc010yja.1_Missense_Mutation_p.K317T|TAF1B_uc010exd.2_Missense_Mutation_p.K317T NM_005680 NP_005671 Q53T94 TAF1B_HUMAN TBP-associated factor 1B 572 termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter nucleoplasm DNA binding|sequence-specific DNA binding transcription factor activity ovary(1)|breast(1)|pancreas(1) 3 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) TTTGAGAAAAAATACAGTGTA 0.303000 ODC1 4953 broad.mit.edu 37 2 10584276 10584276 + Missense_Mutation SNP T T C TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chr2:10584276T>C uc010exg.1 - 5 828 c.394A>G c.(394-396)ACT>GCT p.T132A ODC1_uc002ran.1_5'Flank|ODC1_uc002rao.1_Missense_Mutation_p.T132A|ODC1_uc010yjd.1_Missense_Mutation_p.T2A NM_002539 NP_002530 P11926 DCOR_HUMAN ornithine decarboxylase 1 132 polyamine biosynthetic process|regulation of cellular amino acid metabolic process|response to virus cytosol ornithine decarboxylase activity|protein binding ovary(1) 1 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) Epithelial(75;0.11)|OV - Ovarian serous cystadenocarcinoma(76;0.161) Pyridoxal Phosphate(DB00114)|Spermine(DB00127) CTATCAAAAGTCATCATCTGG 0.428000 APOB 338 broad.mit.edu 37 2 21225959 21225959 + Missense_Mutation SNP G G T TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chr2:21225959G>T uc002red.2 - 29 12463 c.12335C>A c.(12334-12336)GCT>GAT p.A4112D NM_000384 NP_000375 P04114 APOB_HUMAN apolipoprotein B precursor 4112 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) AACCCACTCAGCATTGTTCTG 0.488000 APOB 338 broad.mit.edu 37 2 21233516 21233516 + Missense_Mutation SNP T T A TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chr2:21233516T>A uc002red.2 - 26 6352 c.6224A>T c.(6223-6225)GAG>GTG p.E2075V NM_000384 NP_000375 P04114 APOB_HUMAN apolipoprotein B precursor 2075 Heparin-binding. 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) TTGCAAGGTCTCAAAAAATGG 0.353000 APOB 338 broad.mit.edu 37 2 21233884 21233884 + Missense_Mutation SNP A A T TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chr2:21233884A>T uc002red.2 - 26 5984 c.5856T>A c.(5854-5856)CAT>CAA p.H1952Q NM_000384 NP_000375 P04114 APOB_HUMAN apolipoprotein B precursor 1952 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) ACACGAGATGATGACTTGTGG 0.478000 APOB 338 broad.mit.edu 37 2 21234742 21234742 + Silent SNP C C T TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chr2:21234742C>T uc002red.2 - 26 5126 c.4998G>A c.(4996-4998)GTG>GTA p.V1666V NM_000384 NP_000375 P04114 APOB_HUMAN apolipoprotein B precursor 1666 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) CATTCTCCAGCACCAGGAGAC 0.463000 ITSN2 50618 broad.mit.edu 37 2 24523025 24523025 + Missense_Mutation SNP T T G TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chr2:24523025T>G uc002rfe.2 - 12 1355 c.1097A>C c.(1096-1098)AAA>ACA p.K366T ITSN2_uc002rff.2_Missense_Mutation_p.K366T|ITSN2_uc002rfg.2_Missense_Mutation_p.K366T|ITSN2_uc010eyd.2_Missense_Mutation_p.K391T NM_006277 NP_006268 Q9NZM3 ITSN2_HUMAN intersectin 2 isoform 1 366 Potential. endocytosis|regulation of Rho protein signal transduction cytoplasm calcium ion binding|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity kidney(2)|ovary(1)|central_nervous_system(1) 4 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) GGCTTTCCGTTTGTCCTCAAA 0.458000 NLRC4 58484 broad.mit.edu 37 2 32476658 32476658 + Missense_Mutation SNP T T A TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chr2:32476658T>A uc002roi.2 - 4 521 c.275A>T c.(274-276)CAG>CTG p.Q92L NLRC4_uc002roj.1_Missense_Mutation_p.Q92L|NLRC4_uc010ezt.1_Intron NM_021209 NP_067032 Q9NPP4 NLRC4_HUMAN caspase recruitment domain protein 12 92 activation of caspase activity|defense response to bacterium|detection of bacterium|interleukin-1 beta secretion|positive regulation of apoptosis cytoplasm ATP binding|magnesium ion binding|protein homodimerization activity ovary(3)|large_intestine(1)|lung(1)|skin(1) 6 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208) TTCTGATGTCTGATGAAAAAG 0.438000 YIPF4 84272 broad.mit.edu 37 2 32526534 32526534 + Silent SNP A A G TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chr2:32526534A>G uc002rok.2 + 5 834 c.567A>G c.(565-567)GGA>GGG p.G189G NM_032312 NP_115688 Q9BSR8 YIPF4_HUMAN Yip1 domain family, member 4 189 endoplasmic reticulum|integral to membrane protein binding 0 Acute lymphoblastic leukemia(172;0.155) TGGTGGTTGGATCATTTGAAG 0.348000 BIRC6 57448 broad.mit.edu 37 2 32678936 32678936 + Missense_Mutation SNP T T C TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chr2:32678936T>C uc010ezu.2 + 23 4813 c.4679T>C c.(4678-4680)CTT>CCT p.L1560P NM_016252 NP_057336 Q9NR09 BIRC6_HUMAN baculoviral IAP repeat-containing 6 1560 anti-apoptosis|apoptosis intracellular acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding ovary(5)|skin(4)|lung(2)|central_nervous_system(1)|breast(1)|pancreas(1) 14 Acute lymphoblastic leukemia(172;0.155) CTCACTGGACTTTTGGAAGTT 0.398000 TTC27 55622 broad.mit.edu 37 2 32855667 32855667 + Missense_Mutation SNP T T C TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chr2:32855667T>C uc002rom.2 + 2 397 c.166T>C c.(166-168)TTT>CTT p.F56L TTC27_uc010ymx.1_Missense_Mutation_p.F6L NM_017735 NP_060205 Q6P3X3 TTC27_HUMAN tetratricopeptide repeat domain 27 56 protein binding central_nervous_system(1) 1 TCAAAATATTTTTAATTCAAC 0.358000 PLEKHH2 130271 broad.mit.edu 37 2 43924480 43924480 + Missense_Mutation SNP G G A TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chr2:43924480G>A uc010yny.1 + 7 756 c.673G>A c.(673-675)GGA>AGA p.G225R PLEKHH2_uc002rte.3_Missense_Mutation_p.G225R|PLEKHH2_uc002rtf.3_Missense_Mutation_p.G224R NM_172069 NP_742066 Q8IVE3 PKHH2_HUMAN pleckstrin homology domain containing, family H 225 cytoplasm|cytoskeleton|integral to membrane binding skin(2)|central_nervous_system(1) 3 all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17) GTTCACTGAAGGAAAAGACAT 0.358000 PREPL 9581 broad.mit.edu 37 2 44549015 44549015 + Missense_Mutation SNP A A T TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chr2:44549015A>T uc002ruf.2 - 13 2080 c.2045T>A c.(2044-2046)CTA>CAA p.L682Q PREPL_uc002rug.2_Missense_Mutation_p.L616Q|PREPL_uc002ruh.2_Missense_Mutation_p.L620Q|PREPL_uc010fax.2_Missense_Mutation_p.L682Q|PREPL_uc002rui.3_Missense_Mutation_p.L593Q|PREPL_uc002ruj.1_Missense_Mutation_p.L593Q|PREPL_uc002ruk.1_Missense_Mutation_p.L682Q NM_006036 NP_006027 Q4J6C6 PPCEL_HUMAN prolyl endopeptidase-like isoform C 682 proteolysis cytosol serine-type endopeptidase activity ovary(1) 1 all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175) CTGAATATCTAGAATAATATT 0.413000 FSHR 2492 broad.mit.edu 37 2 49191026 49191026 + Missense_Mutation SNP A A T TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chr2:49191026A>T uc002rww.2 - 10 1008 c.934T>A c.(934-936)TCC>ACC p.S312T FSHR_uc002rwx.2_Missense_Mutation_p.S250T|FSHR_uc010fbn.2_Missense_Mutation_p.S286T NM_000145 NP_000136 P23945 FSHR_HUMAN follicle stimulating hormone receptor isoform 1 312 Extracellular (Potential). female gamete generation|male gonad development|spermatogenesis integral to membrane|plasma membrane follicle-stimulating hormone receptor activity|protein binding ovary(4)|lung(2)|central_nervous_system(1)|skin(1) 8 all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.181) Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151) Choriogonadotropin alfa(DB00097)|Follitropin beta(DB00066)|Menotropins(DB00032)|Urofollitropin(DB00094) GCCAGAGAGGATCTCTGACCC 0.403000 Gonadal_Dysgenesis_46_XX SPTBN1 6711 broad.mit.edu 37 2 54872493 54872493 + Missense_Mutation SNP A A C TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chr2:54872493A>C uc002rxu.2 + 21 4646 c.4397A>C c.(4396-4398)AAG>ACG p.K1466T SPTBN1_uc002rxx.2_Missense_Mutation_p.K1453T NM_003128 NP_003119 Q01082 SPTB2_HUMAN spectrin, beta, non-erythrocytic 1 isoform 1 1466 Spectrin 12. actin filament capping|axon guidance cytosol|nucleolus|plasma membrane|sarcomere|spectrin actin binding|calmodulin binding|protein binding|structural constituent of cytoskeleton ovary(3)|breast(2)|central_nervous_system(2)|skin(1) 8 Lung(47;0.24) GTGCAGACCAAGTTCATGGAG 0.557000 REL 5966 broad.mit.edu 37 2 61145345 61145345 + Missense_Mutation SNP A A C TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chr2:61145345A>C uc002sam.1 + 6 779 c.555A>C c.(553-555)GAA>GAC p.E185D REL_uc002san.1_Missense_Mutation_p.E185D NM_002908 NP_002899 Q04864 REL_HUMAN v-rel reticuloendotheliosis viral oncogene 185 RHD. positive regulation of I-kappaB kinase/NF-kappaB cascade nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity ovary(2)|breast(1) 3 all_hematologic(2;0.0797) Ovarian(717;0.0728) LUSC - Lung squamous cell carcinoma(5;6.2e-08)|Lung(5;1.65e-06)|Epithelial(17;0.064)|all cancers(80;0.221) ATACTGCAGAATTAAGGATTT 0.308000 A Hodgkin Lymphoma ZNF638 27332 broad.mit.edu 37 2 71654264 71654264 + Silent SNP T T C TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chr2:71654264T>C uc002shx.2 + 24 5584 c.5265T>C c.(5263-5265)ACT>ACC p.T1755T ZNF638_uc002shy.2_Silent_p.T1755T|ZNF638_uc002shz.2_Silent_p.T1755T|ZNF638_uc002sia.2_Silent_p.T1755T|ZNF638_uc002sib.1_3'UTR|ZNF638_uc010fed.2_Intron|ZNF638_uc002sic.2_Silent_p.T852T|ZNF638_uc002sid.2_Silent_p.T124T NM_014497 NP_055312 Q14966 ZN638_HUMAN zinc finger protein 638 1755 RNA splicing cytoplasm|nuclear speck double-stranded DNA binding|nucleotide binding|RNA binding|zinc ion binding pancreas(2)|ovary(1)|skin(1) 4 ATGAAGTAACTGAAGAGGATG 0.388000 HK2 3099 broad.mit.edu 37 2 75104388 75104388 + Missense_Mutation SNP T T G TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chr2:75104388T>G uc002snd.2 + 8 2897 c.971T>G c.(970-972)CTC>CGC p.L324R NM_000189 NP_000180 P52789 HXK2_HUMAN hexokinase 2 324 Regulatory. apoptotic mitochondrial changes|glucose transport|glycolysis|transmembrane transport cytosol|mitochondrial outer membrane ATP binding|glucokinase activity ovary(1)|lung(1) 2 GGGGGGAAGCTCAGCCCAGAG 0.547000 CHST10 9486 broad.mit.edu 37 2 101023091 101023091 + Missense_Mutation SNP A A G TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chr2:101023091A>G uc002tam.2 - 3 406 c.47T>C c.(46-48)TTC>TCC p.F16S NM_004854 NP_004845 O43529 CHSTA_HUMAN HNK-1 sulfotransferase 16 Helical; Signal-anchor for type II membrane protein; (Potential). carbohydrate biosynthetic process|cell adhesion Golgi membrane|integral to membrane|membrane fraction ovary(1) 1 CATGAACATGAAAATCACCCA 0.478000 NPAS2 4862 broad.mit.edu 37 2 101582145 101582145 + Missense_Mutation SNP T T A TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chr2:101582145T>A uc002tap.1 + 10 1110 c.824T>A c.(823-825)CTG>CAG p.L275Q NPAS2_uc010yvt.1_Missense_Mutation_p.L340Q NM_002518 NP_002509 Q99743 NPAS2_HUMAN neuronal PAS domain protein 2 275 PAS 2. central nervous system development|positive regulation of transcription from RNA polymerase II promoter|rhythmic process transcription factor complex DNA binding|Hsp90 protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity ovary(3)|upper_aerodigestive_tract(1) 4 ATAGGATACCTGCCTTTTGAA 0.562000 SLC9A2 6549 broad.mit.edu 37 2 103281748 103281748 + Missense_Mutation SNP T T G TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chr2:103281748T>G uc002tca.2 + 3 1085 c.943T>G c.(943-945)TTC>GTC p.F315V NM_003048 NP_003039 Q9UBY0 SL9A2_HUMAN solute carrier family 9 (sodium/hydrogen 315 Helical; Name=I/M7; (Potential). integral to membrane|plasma membrane sodium:hydrogen antiporter activity central_nervous_system(3)|skin(3)|breast(2) 8 ACTGTTTGTTTTCCTGTACAG 0.443000 RANBP2 5903 broad.mit.edu 37 2 109371385 109371385 + Missense_Mutation SNP A A C TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chr2:109371385A>C uc002tem.3 + 16 2353 c.2227A>C c.(2227-2229)AAA>CAA p.K743Q NM_006267 NP_006258 P49792 RBP2_HUMAN RAN binding protein 2 743 carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction cytosol|nuclear pore peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding RANBP2/ALK(16) soft_tissue(16)|lung(1)|pancreas(1) 18 GGAGTCTGTAAAAGAGATGCT 0.333000 THSD7B 80731 broad.mit.edu 37 2 138033526 138033526 + Silent SNP A A G TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chr2:138033526A>G uc002tva.1 + 11 2337 c.2337A>G c.(2335-2337)TTA>TTG p.L779L THSD7B_uc010zbj.1_Intron|THSD7B_uc002tvb.2_Silent_p.L669L NM_001080427 NP_001073896 thrombospondin, type I, domain containing 7B ovary(4)|central_nervous_system(2)|pancreas(1) 7 BRCA - Breast invasive adenocarcinoma(221;0.19) CTTGCATCTTAGTGCCAGAGT 0.418000 LRP1B 53353 broad.mit.edu 37 2 141032079 141032079 + Missense_Mutation SNP T T A TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chr2:141032079T>A uc002tvj.1 - 85 14028 c.13056A>T c.(13054-13056)GAA>GAT p.E4352D NM_018557 NP_061027 Q9NZR2 LRP1B_HUMAN low density lipoprotein-related protein 1B 4352 Extracellular (Potential).|EGF-like 13. protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1) 50 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) ATTTTGGTCCTTCATAGCGCG 0.428000 TSP Lung(27;0.18) LRP1B 53353 broad.mit.edu 37 2 141128301 141128301 + Silent SNP A A G TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chr2:141128301A>G uc002tvj.1 - 71 11958 c.10986T>C c.(10984-10986)AGT>AGC p.S3662S NM_018557 NP_061027 Q9NZR2 LRP1B_HUMAN low density lipoprotein-related protein 1B 3662 Extracellular (Potential).|LDL-receptor class A 29. protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1) 50 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) TCTCTTCATCACTGCCATCCA 0.398000 TSP Lung(27;0.18) RIF1 55183 broad.mit.edu 37 2 152319680 152319680 + Missense_Mutation SNP A A T TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chr2:152319680A>T uc002txm.2 + 30 3776 c.3646A>T c.(3646-3648)AGT>TGT p.S1216C RIF1_uc002txl.2_Missense_Mutation_p.S1216C|RIF1_uc002txn.2_Missense_Mutation_p.S1216C|RIF1_uc002txo.2_Missense_Mutation_p.S1216C|RIF1_uc002txp.2_RNA NM_018151 NP_060621 Q5UIP0 RIF1_HUMAN RAP1 interacting factor 1 1216 cell cycle|response to DNA damage stimulus chromosome, telomeric region|cytoplasm|nucleus|spindle binding ovary(5)|breast(4)|skin(3)|lung(2)|kidney(1) 15 BRCA - Breast invasive adenocarcinoma(221;0.0429) ATACCCTACAAGTCGGAGGCA 0.388000 NEB 4703 broad.mit.edu 37 2 152573961 152573961 + Missense_Mutation SNP A A C TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chr2:152573961A>C uc010fnx.2 - 10 982 c.791T>G c.(790-792)TTT>TGT p.F264C NM_004543 NP_004534 P20929 NEBU_HUMAN nebulin isoform 3 264 Nebulin 6. muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development actin cytoskeleton|cytosol|Z disc actin binding|structural constituent of muscle ovary(8)|large_intestine(5)|breast(3)|central_nervous_system(2)|skin(1)|pancreas(1) 20 BRCA - Breast invasive adenocarcinoma(221;0.219) TTTCTTGGCAAATTCTATATC 0.423000 LY75 4065 broad.mit.edu 37 2 160706613 160706613 + Missense_Mutation SNP A A C TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chr2:160706613A>C uc002ubc.3 - 23 3097 c.3028T>G c.(3028-3030)TTA>GTA p.L1010V LY75_uc002ubb.3_Missense_Mutation_p.L1010V|LY75_uc010fos.2_Missense_Mutation_p.L1010V NM_002349 NP_002340 O60449 LY75_HUMAN lymphocyte antigen 75 precursor 1010 Extracellular (Potential).|C-type lectin 6. endocytosis|immune response|inflammatory response integral to plasma membrane receptor activity|sugar binding 0 COAD - Colon adenocarcinoma(177;0.132) CCAATCCATAAAGTAGCTTCC 0.338000 SLC38A11 151258 broad.mit.edu 37 2 165796034 165796034 + Missense_Mutation SNP A A C TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chr2:165796034A>C uc002ucv.1 - 7 832 c.295T>G c.(295-297)TTC>GTC p.F99V SLC38A11_uc002ucu.1_Missense_Mutation_p.F77V|SLC38A11_uc002ucw.1_Missense_Mutation_p.F99V NM_173512 NP_775783 Q08AI6 S38AB_HUMAN solute carrier family 38, member 11 99 Helical; (Potential). amino acid transport|sodium ion transport integral to membrane p.L99H(1) ovary(1) 1 CCAATAATGAAGTGGCGACCA 0.333000 CSRNP3 80034 broad.mit.edu 37 2 166451672 166451672 + Missense_Mutation SNP A A C TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chr2:166451672A>C uc002udf.2 + 4 473 c.97A>C c.(97-99)AGT>CGT p.S33R CSRNP3_uc002udg.2_Missense_Mutation_p.S33R NM_024969 NP_079245 Q8WYN3 CSRN3_HUMAN cysteine-serine-rich nuclear protein 3 33 Ser-rich. apoptosis|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter nucleus DNA binding|sequence-specific DNA binding transcription factor activity ovary(3)|large_intestine(1)|skin(1) 5 CAGCAGTGAAAGTGCTGACAG 0.453000 XIRP2 129446 broad.mit.edu 37 2 168099931 168099931 + Missense_Mutation SNP G G A TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chr2:168099931G>A uc002udx.2 + 8 2047 c.2029G>A c.(2029-2031)GCG>ACG p.A677T XIRP2_uc010fpn.2_Intron|XIRP2_uc010fpo.2_Intron|XIRP2_uc010fpp.2_Intron|XIRP2_uc002udy.2_Missense_Mutation_p.A502T|XIRP2_uc010fpq.2_Missense_Mutation_p.A455T|XIRP2_uc010fpr.2_Intron NM_152381 NP_689594 A4UGR9 XIRP2_HUMAN xin actin-binding repeat containing 2 isoform 1 502 actin cytoskeleton organization cell junction actin binding skin(7)|ovary(6)|pancreas(1) 14 AGAAGAATCAGCGGTAACTAT 0.433000 B3GALT1 8708 broad.mit.edu 37 2 168725733 168725733 + Missense_Mutation SNP T T G TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chr2:168725733T>G uc002udz.1 + 2 535 c.184T>G c.(184-186)TCT>GCT p.S62A NM_020981 NP_066191 Q9Y5Z6 B3GT1_HUMAN UDP-Gal:betaGlcNAc beta 62 Lumenal (Potential). lipid glycosylation|protein glycosylation Golgi membrane|integral to membrane UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity ovary(2)|pancreas(1)|skin(1) 4 CAACCCACATTCTTTTGAATT 0.408000 KLHL23 151230 broad.mit.edu 37 2 170592685 170592685 + Missense_Mutation SNP G G C TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chr2:170592685G>C uc002ufh.1 + 4 1499 c.1161G>C c.(1159-1161)GAG>GAC p.E387D KLHL23_uc002ufi.1_Missense_Mutation_p.E387D NM_144711 NP_653312 Q8NBE8 KLH23_HUMAN kelch-like 23 387 Kelch 3. 0 AAGAGGCTGAGTTCTATGATC 0.403000 MYO3B 140469 broad.mit.edu 37 2 171073866 171073866 + Silent SNP A A G TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chr2:171073866A>G uc002ufy.2 + 6 707 c.564A>G c.(562-564)AGA>AGG p.R188R MYO3B_uc002ufv.2_Silent_p.R175R|MYO3B_uc010fqb.1_Silent_p.R175R|MYO3B_uc002ufz.2_Silent_p.R188R|MYO3B_uc002ufw.2_RNA|MYO3B_uc002ufx.2_RNA|MYO3B_uc002uga.2_Silent_p.R175R NM_138995 NP_620482 Q8WXR4 MYO3B_HUMAN myosin IIIB isoform 2 188 Protein kinase. response to stimulus|visual perception cytoplasm|myosin complex actin binding|ATP binding|motor activity|protein serine/threonine kinase activity lung(8)|ovary(6)|skin(4)|central_nervous_system(1) 19 GTCTGCGGAGAAACACATCTG 0.423000 DCAF17 80067 broad.mit.edu 37 2 172336628 172336628 + Silent SNP A A G TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chr2:172336628A>G uc002ugx.2 + 13 1576 c.1347A>G c.(1345-1347)AAA>AAG p.K449K DCAF17_uc010zdq.1_RNA|DCAF17_uc010fqf.1_Silent_p.K382K|DCAF17_uc010zdr.1_RNA|DCAF17_uc010fqg.2_Silent_p.K169K NM_025000 NP_079276 Q5H9S7 DCA17_HUMAN DDB1 and CUL4 associated factor 17 isoform 1 449 CUL4 RING ubiquitin ligase complex|integral to membrane|nucleolus 0 CTGAAGGAAAAGCTCACCTGG 0.383000 SLC25A12 8604 broad.mit.edu 37 2 172683315 172683315 + Missense_Mutation SNP T T C TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chr2:172683315T>C uc002uhh.2 - 9 1012 c.923A>G c.(922-924)CAG>CGG p.Q308R SLC25A12_uc010fqh.2_Missense_Mutation_p.Q201R NM_003705 NP_003696 O75746 CMC1_HUMAN solute carrier family 25, member 12 308 gluconeogenesis|malate-aspartate shuttle|response to calcium ion integral to membrane|mitochondrial inner membrane calcium ion binding|L-aspartate transmembrane transporter activity|L-glutamate transmembrane transporter activity|protein binding 0 OV - Ovarian serous cystadenocarcinoma(117;0.216) L-Aspartic Acid(DB00128) TACCTGTCTCTGAAGTTCTGC 0.398000 HAT1 8520 broad.mit.edu 37 2 172822019 172822019 + Missense_Mutation SNP T T G TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chr2:172822019T>G uc002uhi.2 + 5 546 c.470T>G c.(469-471)TTT>TGT p.F157C HAT1_uc010fqi.2_5'UTR|HAT1_uc002uhj.2_Missense_Mutation_p.F72C NM_003642 NP_003633 O14929 HAT1_HUMAN histone acetyltransferase 1 157 chromatin silencing at telomere|DNA packaging cytoplasm|nuclear matrix|nucleoplasm histone acetyltransferase activity|protein binding large_intestine(1)|ovary(1) 2 OV - Ovarian serous cystadenocarcinoma(117;0.216) GGAGAAAACTTTACCTTTCAG 0.323000 TTN 7273 broad.mit.edu 37 2 179435725 179435725 + Missense_Mutation SNP T T A TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chr2:179435725T>A uc010zfg.1 - 275 67654 c.67430A>T c.(67429-67431)AAG>ATG p.K22477M uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.K16172M|TTN_uc010zfi.1_Missense_Mutation_p.K16105M|TTN_uc010zfj.1_Missense_Mutation_p.K15980M NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 23404 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1) 153 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) TAATTCTTTCTTCTCAACAAT 0.418000 TTN 7273 broad.mit.edu 37 2 179490044 179490044 + Missense_Mutation SNP A A C TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chr2:179490044A>C uc010zfg.1 - 190 37024 c.36800T>G c.(36799-36801)CTA>CGA p.L12267R TTN_uc010zfh.1_Missense_Mutation_p.L5962R|TTN_uc010zfi.1_Missense_Mutation_p.L5895R|TTN_uc010zfj.1_Missense_Mutation_p.L5770R NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 13194 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1) 153 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) TTTTGCTGTTAGTTGGACTTC 0.378000 TTN 7273 broad.mit.edu 37 2 179592845 179592845 + Missense_Mutation SNP G G T TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chr2:179592845G>T uc010zfg.1 - 64 16198 c.15974C>A c.(15973-15975)ACT>AAT p.T5325N TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.T1986N NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 6252 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1) 153 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) ACCTTTCACAGTTAAGATGCC 0.368000 TTN 7273 broad.mit.edu 37 2 179598199 179598199 + Missense_Mutation SNP G G A TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chr2:179598199G>A uc010zfg.1 - 51 12313 c.12089C>T c.(12088-12090)GCA>GTA p.A4030V TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.A691V NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 4957 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1) 153 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) GGGATCTCCTGCTGTCACCTG 0.473000 TTN 7273 broad.mit.edu 37 2 179600525 179600525 + Missense_Mutation SNP A A G TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chr2:179600525A>G uc010zfg.1 - 47 11140 c.10916T>C c.(10915-10917)ATC>ACC p.I3639T TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.I300T NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 4566 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1) 153 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) ATCAATGATGATCAACTCTGC 0.398000 TTN 7273 broad.mit.edu 37 2 179642153 179642153 + Missense_Mutation SNP C C T TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chr2:179642153C>T uc010zfg.1 - 26 4863 c.4639G>A c.(4639-4641)GTG>ATG p.V1547M TTN_uc010zfh.1_Missense_Mutation_p.V1501M|TTN_uc010zfi.1_Missense_Mutation_p.V1501M|TTN_uc010zfj.1_Missense_Mutation_p.V1501M|TTN_uc002unb.2_Missense_Mutation_p.V1547M|uc002unc.1_RNA NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 1547 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1) 153 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) TTACCTTCCACAGTTAAAATC 0.378000 ANKAR 150709 broad.mit.edu 37 2 190541514 190541514 + Missense_Mutation SNP G G A TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chr2:190541514G>A uc002uqw.1 + 1 85 c.85G>A c.(85-87)GTC>ATC p.V29I ANKAR_uc002uqu.2_Intron|ANKAR_uc002uqv.1_Missense_Mutation_p.V100I NM_144708 NP_653309 Q7Z5J8 ANKAR_HUMAN ankyrin and armadillo repeat containing 100 integral to membrane binding ovary(2)|pancreas(1)|skin(1) 4 OV - Ovarian serous cystadenocarcinoma(117;0.00156)|Epithelial(96;0.0256)|all cancers(119;0.0744) CTATAGAGAGGTCCATCAAAT 0.413000 DNAH7 56171 broad.mit.edu 37 2 196682507 196682507 + Missense_Mutation SNP T T G TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chr2:196682507T>G uc002utj.3 - 50 9439 c.9338A>C c.(9337-9339)CAG>CCG p.Q3113P NM_018897 NP_061720 Q8WXX0 DYH7_HUMAN dynein, axonemal, heavy chain 7 3113 AAA 5 (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity skin(10)|ovary(2) 12 TCCCAGAAGCTGATCTTGCAT 0.333000 DNAH7 56171 broad.mit.edu 37 2 196729698 196729698 + Missense_Mutation SNP G G T TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chr2:196729698G>T uc002utj.3 - 41 6782 c.6681C>A c.(6679-6681)AGC>AGA p.S2227R NM_018897 NP_061720 Q8WXX0 DYH7_HUMAN dynein, axonemal, heavy chain 7 2227 ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity skin(10)|ovary(2) 12 TGATGAGCCAGCTTCTGTCTG 0.348000 HECW2 57520 broad.mit.edu 37 2 197183343 197183343 + Missense_Mutation SNP T T G TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chr2:197183343T>G uc002utm.1 - 9 2454 c.2271A>C c.(2269-2271)GAA>GAC p.E757D HECW2_uc002utl.1_Missense_Mutation_p.E401D NM_020760 NP_065811 Q9P2P5 HECW2_HUMAN HECT, C2 and WW domain containing E3 ubiquitin 757 Interaction with TP73. protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasm ubiquitin-protein ligase activity skin(5)|ovary(5)|lung(4)|pancreas(2)|central_nervous_system(1)|kidney(1) 18 CAGCACTGCCTTCTTCTTGCG 0.662000 SGOL2 151246 broad.mit.edu 37 2 201434462 201434462 + Missense_Mutation SNP A A C TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chr2:201434462A>C uc002uvw.2 + 6 663 c.550A>C c.(550-552)ACA>CCA p.T184P SGOL2_uc002uvv.3_Missense_Mutation_p.T184P|SGOL2_uc010zhd.1_Missense_Mutation_p.T184P|SGOL2_uc010zhe.1_Missense_Mutation_p.T184P NM_152524 NP_689737 Q562F6 SGOL2_HUMAN shugoshin-like 2 isoform 1 184 cell division|mitotic prometaphase condensed chromosome kinetochore|cytosol|mitotic cohesin complex protein binding ovary(2)|skin(2) 4 TAAATCAAAGACATTACCTGA 0.323000 SGOL2 151246 broad.mit.edu 37 2 201437583 201437583 + Missense_Mutation SNP A A C TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chr2:201437583A>C uc002uvw.2 + 7 2627 c.2514A>C c.(2512-2514)AAA>AAC p.K838N SGOL2_uc010zhd.1_Missense_Mutation_p.K838N|SGOL2_uc010zhe.1_Missense_Mutation_p.K838N NM_152524 NP_689737 Q562F6 SGOL2_HUMAN shugoshin-like 2 isoform 1 838 cell division|mitotic prometaphase condensed chromosome kinetochore|cytosol|mitotic cohesin complex protein binding ovary(2)|skin(2) 4 ACCTAGAAAAAGATAACTTCT 0.313000 ALS2 57679 broad.mit.edu 37 2 202590090 202590090 + Missense_Mutation SNP T T G TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chr2:202590090T>G uc002uyo.2 - 20 3692 c.3336A>C c.(3334-3336)CAA>CAC p.Q1112H ALS2_uc002uyp.3_Missense_Mutation_p.Q1112H|ALS2_uc010ftl.2_RNA NM_020919 NP_065970 Q96Q42 ALS2_HUMAN alsin isoform 1 1112 MORN 3. 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 TGTAGACTCCTTGACCGCACA 0.388000 MAP2 4133 broad.mit.edu 37 2 210558070 210558070 + Silent SNP A A G TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chr2:210558070A>G uc002vde.1 + 7 1424 c.1176A>G c.(1174-1176)AAA>AAG p.K392K MAP2_uc002vdc.1_Silent_p.K392K|MAP2_uc002vdd.1_Intron|MAP2_uc002vdf.1_Intron|MAP2_uc002vdg.1_Intron|MAP2_uc002vdh.1_Intron|MAP2_uc002vdi.1_Silent_p.K388K NM_002374 NP_002365 P11137 MAP2_HUMAN microtubule-associated protein 2 isoform 1 392 central nervous system neuron development|dendrite morphogenesis|negative regulation of microtubule depolymerization cytoplasm|microtubule|microtubule associated complex beta-dystroglycan binding|calmodulin binding|structural molecule activity ovary(9)|upper_aerodigestive_tract(2)|large_intestine(2)|pancreas(2)|central_nervous_system(1)|skin(1) 17 Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202) UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18) Estramustine(DB01196) CCTTACCCAAAGATGCTCACA 0.433000 MAP2 4133 broad.mit.edu 37 2 210574811 210574811 + Missense_Mutation SNP A A G TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chr2:210574811A>G uc002vde.1 + 12 5154 c.4906A>G c.(4906-4908)ATC>GTC p.I1636V MAP2_uc002vdd.1_Missense_Mutation_p.I337V|MAP2_uc002vdf.1_Missense_Mutation_p.I280V|MAP2_uc002vdg.1_Missense_Mutation_p.I280V|MAP2_uc002vdh.1_Missense_Mutation_p.I337V|MAP2_uc002vdi.1_Missense_Mutation_p.I1632V NM_002374 NP_002365 P11137 MAP2_HUMAN microtubule-associated protein 2 isoform 1 1636 central nervous system neuron development|dendrite morphogenesis|negative regulation of microtubule depolymerization cytoplasm|microtubule|microtubule associated complex beta-dystroglycan binding|calmodulin binding|structural molecule activity ovary(9)|upper_aerodigestive_tract(2)|large_intestine(2)|pancreas(2)|central_nervous_system(1)|skin(1) 17 Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202) UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18) Estramustine(DB01196) CAAGTCTGCCATCTTGGTGCC 0.557000 C2orf67 151050 broad.mit.edu 37 2 211019060 211019060 + Missense_Mutation SNP T T G TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chr2:211019060T>G uc002vds.2 - 2 455 c.247A>C c.(247-249)ATG>CTG p.M83L C2orf67_uc002vdt.2_Missense_Mutation_p.M83L|C2orf67_uc002vdw.2_Missense_Mutation_p.M83L|C2orf67_uc002vdy.1_Missense_Mutation_p.M83L|C2orf67_uc002vdv.2_Missense_Mutation_p.M83L|C2orf67_uc002vdx.1_Missense_Mutation_p.M83L NM_152519 NP_689732 A0AUZ9 CB067_HUMAN hypothetical protein LOC151050 83 ovary(3) 3 Renal(323;0.202) Epithelial(149;0.00435)|Lung(261;0.0529)|LUSC - Lung squamous cell carcinoma(261;0.0551)|all cancers(144;0.0696) TTAGATCTCATTAAAAAAACA 0.313000 CPS1 1373 broad.mit.edu 37 2 211540529 211540529 + Silent SNP A A G TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chr2:211540529A>G uc002vee.3 + 36 4371 c.4239A>G c.(4237-4239)CAA>CAG p.Q1413Q CPS1_uc010fur.2_Silent_p.Q1419Q|CPS1_uc010fus.2_Silent_p.Q962Q NM_001875 NP_001866 P31327 CPSM_HUMAN carbamoyl-phosphate synthetase 1 isoform b 1413 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) GGCCGTCTCAAGAAGGACAGA 0.438000 ERBB4 2066 broad.mit.edu 37 2 212566700 212566700 + Missense_Mutation SNP T T C TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chr2:212566700T>C uc002veg.1 - 12 1579 c.1481A>G c.(1480-1482)GAA>GGA p.E494G ERBB4_uc002veh.1_Missense_Mutation_p.E494G|ERBB4_uc010zji.1_Missense_Mutation_p.E494G|ERBB4_uc010zjj.1_Missense_Mutation_p.E494G|ERBB4_uc010fut.1_Missense_Mutation_p.E494G NM_005235 NP_005226 Q15303 ERBB4_HUMAN v-erb-a erythroblastic leukemia viral oncogene 494 Extracellular (Potential). cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway basolateral plasma membrane|cytoplasm|integral to membrane|nucleus ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity lung(21)|skin(5)|stomach(2)|breast(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1) 33 Renal(323;0.06)|Lung NSC(271;0.197) UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266) ACTACAATTTTCAGCTTTTCT 0.343000 TSP Lung(8;0.080) ABCA12 26154 broad.mit.edu 37 2 215840618 215840618 + Missense_Mutation SNP C C T TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chr2:215840618C>T uc002vew.2 - 34 5492 c.5272G>A c.(5272-5274)GTT>ATT p.V1758I ABCA12_uc002vev.2_Missense_Mutation_p.V1440I|ABCA12_uc010zjn.1_Missense_Mutation_p.V685I NM_173076 NP_775099 Q86UK0 ABCAC_HUMAN ATP-binding cassette, sub-family A, member 12 1758 Helical; (Potential). cellular homeostasis|lipid transport integral to membrane ATP binding|ATPase activity ovary(6)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|skin(1)|pancreas(1) 11 Renal(323;0.127) Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011) GCAGTGGTAACAAAGACGATG 0.498000 XRCC5 7520 broad.mit.edu 37 2 217001884 217001884 + Missense_Mutation SNP C C T TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chr2:217001884C>T uc002vfy.2 + 11 1327 c.1187C>T c.(1186-1188)GCT>GTT p.A396V XRCC5_uc002vfz.2_Missense_Mutation_p.A282V NM_021141 NP_066964 P13010 XRCC5_HUMAN ATP-dependent DNA helicase II 396 Ku. double-strand break repair via nonhomologous end joining|initiation of viral infection|negative regulation of transcription, DNA-dependent|provirus integration|telomere maintenance|transcription, DNA-dependent Ku70:Ku80 complex|nonhomologous end joining complex|nuclear telomere cap complex|nucleoplasm ATP binding|ATP-dependent DNA helicase activity|double-stranded DNA binding|protein C-terminus binding|telomeric DNA binding|transcription regulatory region DNA binding lung(1)|kidney(1) 2 Renal(323;0.0328) Epithelial(149;9.78e-06)|all cancers(144;0.000632)|LUSC - Lung squamous cell carcinoma(224;0.00871)|Lung(261;0.0117) GTTCGATATGCTTATGACAAA 0.398000 Direct_reversal_of_damage|NHEJ USP37 57695 broad.mit.edu 37 2 219341575 219341575 + Silent SNP T T C TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chr2:219341575T>C uc002vie.2 - 19 2484 c.2031A>G c.(2029-2031)GAA>GAG p.E677E USP37_uc010fvs.1_Silent_p.E677E|USP37_uc010zkf.1_Silent_p.E677E|USP37_uc002vif.2_Silent_p.E677E|USP37_uc002vig.2_Silent_p.E583E NM_020935 NP_065986 Q86T82 UBP37_HUMAN ubiquitin specific peptidase 37 677 ubiquitin-dependent protein catabolic process nucleus cysteine-type peptidase activity|ubiquitin thiolesterase activity skin(3)|ovary(1)|prostate(1) 5 Renal(207;0.0915) Epithelial(149;1.08e-06)|all cancers(144;0.000197)|LUSC - Lung squamous cell carcinoma(224;0.00375)|Lung(261;0.00487) TTTCCAGGTCTTCCTGCTGCT 0.383000 ZFAND2B 130617 broad.mit.edu 37 2 220072471 220072471 + Silent SNP T T C TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chr2:220072471T>C uc002vka.2 + 3 424 c.252T>C c.(250-252)TGT>TGC p.C84C ZFAND2B_uc010zkt.1_Silent_p.C84C|ZFAND2B_uc010fwd.1_Silent_p.C84C|ZFAND2B_uc002vjy.1_Silent_p.C84C|ZFAND2B_uc002vjz.1_Silent_p.C84C|ZFAND2B_uc002vkb.1_5'UTR NM_138802 NP_620157 Q8WV99 ZFN2B_HUMAN zinc finger, AN1-type domain 2B 84 endoplasmic reticulum protein binding|zinc ion binding 0 Renal(207;0.0915) Epithelial(149;1.16e-06)|all cancers(144;0.000191)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) ACAGAGACTGTCGCTCTGATC 0.547000 WDR69 164781 broad.mit.edu 37 2 228769686 228769686 + Silent SNP A A C TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chr2:228769686A>C uc002vpn.1 + 8 769 c.690A>C c.(688-690)TCA>TCC p.S230S WDR69_uc010zlw.1_Silent_p.S215S|WDR69_uc002vpo.1_RNA NM_178821 NP_849143 Q8N136 WDR69_HUMAN WD repeat domain 69 230 WD 4. breast(1) 1 Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23) Epithelial(121;1.22e-10)|all cancers(144;8.11e-08)|Lung(261;0.011)|LUSC - Lung squamous cell carcinoma(224;0.0148) TTAACACCTCAGGAGACAGAA 0.408000 SPHKAP 80309 broad.mit.edu 37 2 228890176 228890176 + Missense_Mutation SNP T T G TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chr2:228890176T>G uc002vpq.2 - 5 422 c.375A>C c.(373-375)GAA>GAC p.E125D SPHKAP_uc002vpp.2_Missense_Mutation_p.E125D|SPHKAP_uc010zlx.1_Missense_Mutation_p.E125D NM_001142644 NP_001136116 Q2M3C7 SPKAP_HUMAN sphingosine kinase type 1-interacting protein 125 cytoplasm protein binding skin(5)|ovary(4)|lung(1) 10 Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23) Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232) CAATTTCATTTTCTTTTGGTT 0.363000 SLC16A14 151473 broad.mit.edu 37 2 230902235 230902235 + Missense_Mutation SNP T T G TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chr2:230902235T>G uc002vqd.1 - 5 1757 c.1394A>C c.(1393-1395)GAC>GCC p.D465A FBXO36_uc010fxi.1_Intron NM_152527 NP_689740 Q7RTX9 MOT14_HUMAN solute carrier family 16 (monocarboxylic acid 465 Cytoplasmic (Potential). integral to membrane|plasma membrane symporter activity ovary(4)|skin(2) 6 Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.149)|Acute lymphoblastic leukemia(138;0.164) Epithelial(121;7.31e-13)|all cancers(144;5.1e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00948) TTGCGTGATGTCATAGATCCA 0.338000 CAB39 51719 broad.mit.edu 37 2 231678800 231678800 + Missense_Mutation SNP A A C TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chr2:231678800A>C uc002vqx.2 + 7 1096 c.664A>C c.(664-666)AAT>CAT p.N222H CAB39_uc010fxr.2_Missense_Mutation_p.N222H|CAB39_uc010fxq.2_Missense_Mutation_p.N222H|CAB39_uc002vqy.2_5'UTR NM_016289 NP_057373 Q9Y376 CAB39_HUMAN calcium binding protein 39 222 cell cycle arrest|insulin receptor signaling pathway|regulation of fatty acid oxidation cytosol kinase binding central_nervous_system(1) 1 all_lung(227;4.63e-07)|all_hematologic(139;1.83e-06)|Lung NSC(271;2.11e-05)|Acute lymphoblastic leukemia(138;5.51e-05)|Hepatocellular(293;0.0207)|Lung SC(224;0.187) all cancers(144;1.64e-12)|Epithelial(121;5.29e-11)|LUSC - Lung squamous cell carcinoma(224;0.0154)|Lung(119;0.0177)|COAD - Colon adenocarcinoma(134;0.226) TCATTCAGAAAATTATGTGAC 0.204000 COL6A3 1293 broad.mit.edu 37 2 238289663 238289663 + Missense_Mutation SNP C C T TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chr2:238289663C>T uc002vwl.2 - 5 2077 c.1792G>A c.(1792-1794)GAC>AAC p.D598N COL6A3_uc002vwo.2_Missense_Mutation_p.D392N|COL6A3_uc010znj.1_Missense_Mutation_p.D191N|COL6A3_uc002vwq.2_Missense_Mutation_p.D392N|COL6A3_uc002vwr.2_Missense_Mutation_p.D191N|COL6A3_uc010znk.1_Missense_Mutation_p.D598N NM_004369 NP_004360 P12111 CO6A3_HUMAN alpha 3 type VI collagen isoform 1 precursor 598 VWFA 3.|Nonhelical region. axon guidance|cell adhesion|muscle organ development collagen type VI|extracellular space serine-type endopeptidase inhibitor activity ovary(8)|central_nervous_system(6)|skin(2)|upper_aerodigestive_tract(1)|pancreas(1) 18 Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203) Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034) AGGGAGGAGTCGAAAGCGATC 0.592000 PPP1R7 5510 broad.mit.edu 37 2 242105831 242105831 + Missense_Mutation SNP A A C TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chr2:242105831A>C uc002wat.1 + 8 809 c.794A>C c.(793-795)GAG>GCG p.E265A PPP1R7_uc010fzm.1_Missense_Mutation_p.E249A|PPP1R7_uc002war.2_Missense_Mutation_p.E259A|PPP1R7_uc002was.2_Missense_Mutation_p.E265A|PPP1R7_uc002wau.1_Missense_Mutation_p.E222A|PPP1R7_uc002wav.1_Missense_Mutation_p.E191A NM_002712 NP_002703 Q15435 PP1R7_HUMAN protein phosphatase 1, regulatory subunit 7 265 LRR 9. cytoplasm|nucleus protein binding|protein phosphatase type 1 regulator activity ovary(3) 3 all_cancers(19;6.1e-33)|all_epithelial(40;1.07e-13)|Breast(86;0.000141)|Renal(207;0.00528)|all_lung(227;0.0446)|Ovarian(221;0.104)|Lung NSC(271;0.115)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.238) Epithelial(32;6.92e-32)|all cancers(36;5.35e-29)|OV - Ovarian serous cystadenocarcinoma(60;3.4e-14)|Kidney(56;4.23e-09)|KIRC - Kidney renal clear cell carcinoma(57;4.24e-08)|BRCA - Breast invasive adenocarcinoma(100;3.56e-06)|Lung(119;0.000588)|LUSC - Lung squamous cell carcinoma(224;0.0048)|Colorectal(34;0.0137)|COAD - Colon adenocarcinoma(134;0.096) AATGGCATCGAGGTCATCGAG 0.617000 DEFB129 140881 broad.mit.edu 37 20 210029 210029 + Missense_Mutation SNP C C A TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chr20:210029C>A uc002wda.2 + 2 174 c.169C>A c.(169-171)CCA>ACA p.P57T NM_080831 NP_543021 Q9H1M3 DB129_HUMAN beta defensin 129 precursor 57 defense response to bacterium extracellular region ovary(1) 1 all_cancers(10;7.65e-05)|Lung NSC(37;0.0417)|all_epithelial(17;0.0676)|all_lung(30;0.0713)|Breast(17;0.231) OV - Ovarian serous cystadenocarcinoma(29;0.122) TTGTGTTGGACCAAAAGTGGT 0.378000 TGM3 7053 broad.mit.edu 37 20 2315813 2315813 + Missense_Mutation SNP A A G TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chr20:2315813A>G uc002wfx.3 + 11 1791 c.1694A>G c.(1693-1695)AAG>AGG p.K565R NM_003245 NP_003236 Q08188 TGM3_HUMAN transglutaminase 3 precursor 565 cell envelope organization|hair follicle morphogenesis|keratinization|peptide cross-linking|protein tetramerization cytoplasm|extrinsic to internal side of plasma membrane acyltransferase activity|calcium ion binding|GDP binding|GTP binding|GTPase activity|magnesium ion binding|protein-glutamine gamma-glutamyltransferase activity p.K565K(1) large_intestine(4)|ovary(3)|breast(1)|skin(1) 9 L-Glutamine(DB00130) AAGTACCTGAAGTCAGACAAC 0.557000 GPCPD1 56261 broad.mit.edu 37 20 5559187 5559187 + Missense_Mutation SNP T T G TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chr20:5559187T>G uc002wme.3 - 8 757 c.544A>C c.(544-546)ATG>CTG p.M182L GPCPD1_uc002wmd.3_Missense_Mutation_p.M1L NM_019593 NP_062539 Q9NPB8 GPCP1_HUMAN hypothetical protein LOC56261 182 glycerol metabolic process|lipid metabolic process carbohydrate binding|glycerophosphodiester phosphodiesterase activity 0 CTATTGGACATTTTGTGGAGT 0.453000 PLCB1 23236 broad.mit.edu 37 20 8630095 8630095 + Missense_Mutation SNP G G T TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chr20:8630095G>T uc002wnb.2 + 7 596 c.593G>T c.(592-594)AGG>ATG p.R198M PLCB1_uc010zrb.1_Missense_Mutation_p.R97M|PLCB1_uc010gbv.1_Missense_Mutation_p.R198M|PLCB1_uc002wmz.1_Missense_Mutation_p.R198M|PLCB1_uc002wna.2_Missense_Mutation_p.R198M|PLCB1_uc002wnc.1_Missense_Mutation_p.R97M NM_015192 NP_056007 Q9NQ66 PLCB1_HUMAN phosphoinositide-specific phospholipase C beta 1 198 activation of meiosis involved in egg activation|CD24 biosynthetic process|cerebral cortex development|G1 phase|G2/M transition of mitotic cell cycle|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of monocyte extravasation|negative regulation of transcription, DNA-dependent|phosphatidylinositol metabolic process|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of JNK cascade|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of fertilization|regulation of G-protein coupled receptor protein signaling pathway|synaptic transmission cytosol|nuclear chromatin|nuclear speck calcium ion binding|calmodulin binding|enzyme binding|GTPase activator activity|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity ovary(4)|breast(3)|upper_aerodigestive_tract(2)|skin(2)|lung(1) 12 CCATCTTCAAGGGTGAGCATG 0.254000 ANKRD5 63926 broad.mit.edu 37 20 10035216 10035216 + Missense_Mutation SNP A A G TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chr20:10035216A>G uc002wno.2 + 10 2534 c.2141A>G c.(2140-2142)AAG>AGG p.K714R uc002wnn.1_Intron|ANKRD5_uc002wnp.2_Missense_Mutation_p.K714R|ANKRD5_uc010gbz.2_Missense_Mutation_p.K525R NM_022096 NP_071379 Q9NU02 ANKR5_HUMAN ankyrin repeat domain protein 5 714 calcium ion binding ovary(1)|breast(1) 2 GGTTATACTAAGAAAGTGGAT 0.363000 C20orf26 26074 broad.mit.edu 37 20 20056254 20056254 + Silent SNP A A G TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chr20:20056254A>G uc002wru.2 + 6 637 c.561A>G c.(559-561)AAA>AAG p.K187K C20orf26_uc010gcw.1_Silent_p.K141K|C20orf26_uc010zse.1_Silent_p.K187K|C20orf26_uc010zsf.1_Silent_p.K187K NM_015585 NP_056400 Q8NHU2 CT026_HUMAN hypothetical protein LOC26074 187 ovary(3)|pancreas(1) 4 READ - Rectum adenocarcinoma(2;0.171) ACGTTCGCAAAGCCAGGTACA 0.483000 NKX2-2 4821 broad.mit.edu 37 20 21494272 21494272 + Silent SNP G G A TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chr20:21494272G>A uc002wsi.2 - 1 393 c.36C>T c.(34-36)GTC>GTT p.V12V NM_002509 NP_002500 O95096 NKX22_HUMAN NK2 transcription factor related, locus 2 12 brain development|positive regulation of sequence-specific DNA binding transcription factor activity nucleus chromatin binding|core promoter proximal region DNA binding|transcription coactivator activity pancreas(1)|skin(1) 2 AGATGTCCTTGACCGAAAACC 0.572000 TMEM90B 79953 broad.mit.edu 37 20 24523780 24523780 + Missense_Mutation SNP T T C TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chr20:24523780T>C uc002wtw.1 + 2 680 c.47T>C c.(46-48)ATC>ACC p.I16T NM_024893 NP_079169 Q9H7V2 SYNG1_HUMAN transmembrane protein 90B 16 Cytoplasmic (Potential). response to biotic stimulus early endosome membrane|integral to membrane|plasma membrane 0 CACAGTAAAATCAGTGATGCT 0.517000 HCK 3055 broad.mit.edu 37 20 30674564 30674564 + Silent SNP G G A TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chr20:30674564G>A uc002wxh.2 + 9 1140 c.969G>A c.(967-969)GTG>GTA p.V323V HCK_uc010gdy.2_Silent_p.V302V|HCK_uc002wxi.2_Silent_p.V301V NM_002110 NP_002101 P08631 HCK_HUMAN hemopoietic cell kinase isoform p61HCK 323 Protein kinase. interspecies interaction between organisms|mesoderm development|regulation of defense response to virus by virus|viral reproduction caveola|cytosol ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding lung(4)|ovary(2)|central_nervous_system(2)|pancreas(1) 9 UCEC - Uterine corpus endometrioid carcinoma (5;0.0241) TTCATGCGGTGGTCACCAAGG 0.572000 RALY 22913 broad.mit.edu 37 20 32660008 32660008 + Missense_Mutation SNP C C T TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chr20:32660008C>T uc002xab.2 + 3 426 c.128C>T c.(127-129)TCT>TTT p.S43F RALY_uc010zui.1_Missense_Mutation_p.S43F|RALY_uc002xac.2_Missense_Mutation_p.S43F|RALY_uc002xad.2_RNA|RALY_uc002xae.1_Missense_Mutation_p.S43F NM_016732 NP_057951 Q9UKM9 RALY_HUMAN RNA binding protein (autoantigenic, 43 RRM. catalytic step 2 spliceosome|heterogeneous nuclear ribonucleoprotein complex nucleotide binding|RNA binding ovary(1) 1 ACCATCTTCTCTAAGTATGGC 0.512000 C20orf152 140894 broad.mit.edu 37 20 34571996 34571996 + Missense_Mutation SNP A A C TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chr20:34571996A>C uc002xes.1 + 5 656 c.500A>C c.(499-501)GAG>GCG p.E167A C20orf152_uc002xer.1_Missense_Mutation_p.E167A|C20orf152_uc010gfp.1_Intron Q96M20 CT152_HUMAN SubName: Full=C20orf152 protein; 167 cNMP. 0 Breast(12;0.00631) ACCAAGGACGAGGATGGCAGC 0.542000 EMILIN3 90187 broad.mit.edu 37 20 39990482 39990482 + Missense_Mutation SNP G G A rs148759441 TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chr20:39990482G>A uc002xjy.1 - 4 1951 c.1727C>T c.(1726-1728)ACG>ATG p.T576M NM_052846 NP_443078 Q9NT22 EMIL3_HUMAN elastin microfibril interfacer 3 576 proteinaceous extracellular matrix ovary(1) 1 Myeloproliferative disorder(115;0.00425) TGAGCTGCCCGTCCCTTCTGC 0.612000 ADNP 23394 broad.mit.edu 37 20 49509420 49509420 + Missense_Mutation SNP C C T TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chr20:49509420C>T uc002xvt.1 - 5 2176 c.1831G>A c.(1831-1833)GCT>ACT p.A611T ADNP_uc002xvu.1_Missense_Mutation_p.A611T NM_015339 NP_056154 Q9H2P0 ADNP_HUMAN activity-dependent neuroprotector 611 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(2) 2 GGCACTGCAGCTTGAGGTGAA 0.433000 BCAS1 8537 broad.mit.edu 37 20 52601953 52601953 + Missense_Mutation SNP T T C TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chr20:52601953T>C uc002xws.2 - 7 1351 c.1013A>G c.(1012-1014)AAG>AGG p.K338R BCAS1_uc010zza.1_Missense_Mutation_p.K96R|BCAS1_uc010zzb.1_Missense_Mutation_p.K286R|BCAS1_uc010gim.2_Missense_Mutation_p.K286R|BCAS1_uc002xwt.2_Missense_Mutation_p.K338R|BCAS1_uc010gil.1_Missense_Mutation_p.K338R NM_003657 NP_003648 O75363 BCAS1_HUMAN breast carcinoma amplified sequence 1 338 cytoplasm protein binding ovary(2)|central_nervous_system(1) 3 Breast(2;9.53e-15)|Lung NSC(4;5.57e-06)|all_lung(4;1.44e-05) STAD - Stomach adenocarcinoma(23;0.116)|Colorectal(105;0.198) TTTGGAATTCTTGCCAGCCCC 0.517000 MC3R 4159 broad.mit.edu 37 20 54824097 54824097 + Silent SNP C C T TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chr20:54824097C>T uc002xxb.2 + 1 310 c.198C>T c.(196-198)AAC>AAT p.N66N NM_019888 NP_063941 P41968 MC3R_HUMAN melanocortin 3 receptor 103 Cytoplasmic (Potential). activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|positive regulation of cAMP biosynthetic process integral to plasma membrane melanocyte-stimulating hormone receptor activity|neuropeptide binding|protein binding p.N103N(1) ovary(2)|breast(2) 4 Colorectal(105;0.202) TGGTCAGGAACGGCAACCTGC 0.562000 CASS4 57091 broad.mit.edu 37 20 55012519 55012519 + Silent SNP T T G TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chr20:55012519T>G uc002xxp.2 + 3 561 c.336T>G c.(334-336)GTT>GTG p.V112V CASS4_uc002xxq.3_Silent_p.V112V|CASS4_uc002xxr.2_Silent_p.V112V|CASS4_uc010zze.1_Intron|CASS4_uc010gio.2_Silent_p.V112V NM_001164116 NP_001157588 Q9NQ75 CASS4_HUMAN HEF-like protein isoform a 112 cell adhesion cytoplasm|cytoskeleton|focal adhesion two-component sensor activity ovary(2)|skin(1) 3 CAGGCCCCGTTTATGAGCAGA 0.617000 CDH26 60437 broad.mit.edu 37 20 58559774 58559774 + Missense_Mutation SNP T T C TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chr20:58559774T>C uc002ybe.2 + 6 922 c.622T>C c.(622-624)TCT>CCT p.S208P CDH26_uc010zzy.1_RNA NM_177980 NP_817089 Q8IXH8 CAD26_HUMAN cadherin-like 26 isoform a 208 Cadherin 2.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(3)|central_nervous_system(1) 4 all_lung(29;0.00963) BRCA - Breast invasive adenocarcinoma(7;5.58e-09) CTTCCTCATTTCTCAAACACC 0.373000 CDH26 60437 broad.mit.edu 37 20 58559811 58559811 + Missense_Mutation SNP T T G TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chr20:58559811T>G uc002ybe.2 + 6 959 c.659T>G c.(658-660)GTT>GGT p.V220G CDH26_uc010zzy.1_RNA NM_177980 NP_817089 Q8IXH8 CAD26_HUMAN cadherin-like 26 isoform a 220 Cadherin 2.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(3)|central_nervous_system(1) 4 all_lung(29;0.00963) BRCA - Breast invasive adenocarcinoma(7;5.58e-09) GGTTTCCGGGTTGATCGCCTT 0.378000 TAF4 6874 broad.mit.edu 37 20 60587991 60587991 + Splice_Site SNP C C T TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chr20:60587991C>T uc002ybs.2 - 3 1522 c.1522_splice c.e3-1 p.A508_splice NM_003185 NP_003176 O00268 TAF4_HUMAN TBP-associated factor 4 interspecies interaction between organisms|positive regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction cytoplasm|MLL1 complex|transcription factor TFIID complex|transcription factor TFTC complex DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity ovary(2)|pancreas(1) 3 Breast(26;1e-08) BRCA - Breast invasive adenocarcinoma(19;3.1e-07) TTCCAGGTGCCTGAAAAATAA 0.478000 TCFL5 10732 broad.mit.edu 37 20 61485451 61485451 + Missense_Mutation SNP C C T TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chr20:61485451C>T uc002ydp.2 - 5 1390 c.1297G>A c.(1297-1299)GAG>AAG p.E433K TCFL5_uc002ydo.2_Missense_Mutation_p.E206K|TCFL5_uc002ydq.2_Missense_Mutation_p.E432K NM_006602 NP_006593 Q9UL49 TCFL5_HUMAN transcription factor-like 5 protein 433 Helix-loop-helix motif. cell differentiation|multicellular organismal development|regulation of cell differentiation|regulation of cell proliferation|spermatogenesis|transcription from RNA polymerase II promoter DNA binding|sequence-specific DNA binding transcription factor activity large_intestine(1) 1 Breast(26;5.68e-08) TTGTCAGTCTCGGCATTGCAG 0.488000 DIDO1 11083 broad.mit.edu 37 20 61513128 61513128 + Missense_Mutation SNP C C T TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chr20:61513128C>T uc002ydr.1 - 16 4444 c.4180G>A c.(4180-4182)GAG>AAG p.E1394K DIDO1_uc002yds.1_Missense_Mutation_p.E1394K NM_033081 NP_149072 Q9BTC0 DIDO1_HUMAN death inducer-obliterator 1 isoform c 1394 apoptosis|transcription, DNA-dependent cytoplasm|nucleus zinc ion binding ovary(3)|skin(3) 6 Breast(26;5.68e-08) AAGGCCCTCTCCGGGTCGTAC 0.602000 YTHDF1 54915 broad.mit.edu 37 20 61834292 61834292 + Missense_Mutation SNP T T C TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chr20:61834292T>C uc002yeh.2 - 4 1294 c.1000A>G c.(1000-1002)AGA>GGA p.R334G YTHDF1_uc011aaq.1_Missense_Mutation_p.R284G NM_017798 NP_060268 Q9BYJ9 YTHD1_HUMAN YTH domain family, member 1 334 ovary(2) 2 GCCGCGTTTCTGTTGCGTGGG 0.647000 GRIK1 2897 broad.mit.edu 37 21 31027143 31027143 + Missense_Mutation SNP A A C TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chr21:31027143A>C uc002yno.1 - 5 1231 c.767T>G c.(766-768)TTT>TGT p.F256C GRIK1_uc002ynn.2_Missense_Mutation_p.F256C|GRIK1_uc011acs.1_Missense_Mutation_p.F256C|GRIK1_uc011act.1_Missense_Mutation_p.F200C|GRIK1_uc010glq.1_Missense_Mutation_p.F114C|GRIK1_uc002ynr.2_Missense_Mutation_p.F256C NM_000830 NP_000821 P39086 GRIK1_HUMAN glutamate receptor, ionotropic, kainate 1 256 Extracellular (Potential). central nervous system development|synaptic transmission cell junction|postsynaptic membrane kainate selective glutamate receptor activity large_intestine(1)|ovary(1)|skin(1) 3 L-Glutamic Acid(DB00142)|Topiramate(DB00273) GGTTGTGAAAAAGTAGTGATA 0.408000 ERG 2078 broad.mit.edu 37 21 39795341 39795341 + Missense_Mutation SNP C C T TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chr21:39795341C>T uc010gnw.2 - 5 695 c.400G>A c.(400-402)GTG>ATG p.V134M ERG_uc002yxa.2_Missense_Mutation_p.V127M|ERG_uc011aek.1_Missense_Mutation_p.V35M|ERG_uc010gnv.2_Missense_Mutation_p.V35M|ERG_uc010gnx.2_Missense_Mutation_p.V134M|ERG_uc011ael.1_Missense_Mutation_p.V134M|ERG_uc002yxb.2_Missense_Mutation_p.V134M|ERG_uc011aem.1_Missense_Mutation_p.V127M|ERG_uc002yxc.3_Missense_Mutation_p.V134M NM_001136155 NP_001129627 P11308 ERG_HUMAN ets-related isoform 4 134 PNT. cell proliferation|multicellular organismal development|protein phosphorylation cytoplasm|nucleus|ribonucleoprotein complex protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity TMPRSS2/ERG(2499)|FUS/ERG(163)|EWSR1/ERG(162) prostate(2499)|bone(167)|haematopoietic_and_lymphoid_tissue(153)|soft_tissue(5)|lung(2)|skin(1)|ovary(1) 2828 Prostate(19;3.6e-06) CCTGCTGGCACGATAACTCTG 0.612000 BACE2 25825 broad.mit.edu 37 21 42647325 42647325 + Missense_Mutation SNP T T G TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chr21:42647325T>G uc002yyw.2 + 9 1794 c.1331T>G c.(1330-1332)ATT>AGT p.I444S BACE2_uc002yyx.2_Missense_Mutation_p.I394S|BACE2_uc002yyy.2_Missense_Mutation_p.F388V|BACE2_uc010goo.2_RNA NM_012105 NP_036237 Q9Y5Z0 BACE2_HUMAN beta-site APP-cleaving enzyme 2 isoform A 444 Extracellular (Potential). membrane protein ectodomain proteolysis|negative regulation of amyloid precursor protein biosynthetic process|peptide hormone processing cell surface|endoplasmic reticulum|endosome|Golgi apparatus|integral to membrane aspartic-type endopeptidase activity ovary(2) 2 Prostate(19;1.57e-07)|all_epithelial(19;0.0251) GTGTCTGAAATTTCCGGGCCT 0.512000 COL6A2 1292 broad.mit.edu 37 21 47546039 47546039 + Missense_Mutation SNP A A C TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chr21:47546039A>C uc002zia.1 + 26 2392 c.2310A>C c.(2308-2310)GAA>GAC p.E770D COL6A2_uc002zhy.1_Missense_Mutation_p.E770D|COL6A2_uc002zhz.1_Missense_Mutation_p.E770D|COL6A2_uc002zib.1_Missense_Mutation_p.E176D|COL6A2_uc002zic.1_5'Flank NM_001849 NP_001840 P12110 CO6A2_HUMAN alpha 2 type VI collagen isoform 2C2 precursor 770 VWFA 2.|Nonhelical region. axon guidance|cell-cell adhesion|extracellular matrix organization|protein heterotrimerization collagen|extracellular space|protein complex extracellular matrix structural constituent|protein binding, bridging central_nervous_system(7)|ovary(1) 8 Breast(49;0.245) Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649) ACGAGAGTGAAAACCTCTACT 0.597000 MYO18B 84700 broad.mit.edu 37 22 26423450 26423450 + Missense_Mutation SNP C C T TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chr22:26423450C>T uc003abz.1 + 43 7760 c.7510C>T c.(7510-7512)CAC>TAC p.H2504Y MYO18B_uc003aca.1_Missense_Mutation_p.H2385Y|MYO18B_uc010guy.1_Missense_Mutation_p.H2386Y|MYO18B_uc010guz.1_Missense_Mutation_p.H2384Y|MYO18B_uc011aka.1_Missense_Mutation_p.H1658Y|MYO18B_uc011akb.1_Missense_Mutation_p.H2017Y|MYO18B_uc010gva.1_Missense_Mutation_p.H487Y|MYO18B_uc010gvb.1_RNA NM_032608 NP_115997 Q8IUG5 MY18B_HUMAN myosin XVIIIB 2504 nucleus|sarcomere|unconventional myosin complex actin binding|ATP binding|motor activity ovary(5)|central_nervous_system(3)|large_intestine(2)|breast(2) 12 GGATCCCGCTCACCTGTCTGA 0.542000 TRIOBP 11078 broad.mit.edu 37 22 38120199 38120199 + Nonsense_Mutation SNP C C T TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chr22:38120199C>T uc003atr.2 + 7 1907 c.1636C>T c.(1636-1638)CGA>TGA p.R546* TRIOBP_uc003atu.2_Nonsense_Mutation_p.R374*|TRIOBP_uc003atq.1_Nonsense_Mutation_p.R546*|TRIOBP_uc003ats.1_Nonsense_Mutation_p.R374* NM_001039141 NP_001034230 Q9H2D6 TARA_HUMAN TRIO and F-actin binding protein isoform 6 546 actin modification|barbed-end actin filament capping actin cytoskeleton|cytoplasm|nucleus actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding central_nervous_system(1) 1 Melanoma(58;0.0574) TAGAGCTGCACGAGACAACCC 0.587000 XRCC6 2547 broad.mit.edu 37 22 42054327 42054327 + Missense_Mutation SNP T T G TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chr22:42054327T>G uc003bao.1 + 11 1563 c.1493T>G c.(1492-1494)ATG>AGG p.M498R XRCC6_uc003bap.1_Missense_Mutation_p.M457R|XRCC6_uc011apc.1_Missense_Mutation_p.M448R|XRCC6_uc003baq.1_Missense_Mutation_p.M498R|XRCC6_uc003bar.1_Missense_Mutation_p.M498R|XRCC6_uc003bas.1_Missense_Mutation_p.M448R NM_001469 NP_001460 P12956 XRCC6_HUMAN ATP-dependent DNA helicase II, 70 kDa subunit 498 DNA ligation|double-strand break repair via nonhomologous end joining|initiation of viral infection|negative regulation of transcription, DNA-dependent|positive regulation of transcription from RNA polymerase II promoter|provirus integration|telomere maintenance|transcription, DNA-dependent DNA-dependent protein kinase-DNA ligase 4 complex|Ku70:Ku80 complex|membrane fraction|nuclear telomere cap complex|transcription factor complex 5'-deoxyribose-5-phosphate lyase activity|ATP binding|ATP-dependent DNA helicase activity|double-stranded DNA binding|protein C-terminus binding|transcription regulatory region DNA binding skin(2)|ovary(1)|lung(1)|kidney(1) 5 TTGGATTTGATGGAGCCGGAA 0.468000 Direct_reversal_of_damage|NHEJ LMF2 91289 broad.mit.edu 37 22 50941834 50941834 + Missense_Mutation SNP G G A rs144527949 TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chr22:50941834G>A uc003blp.2 - 14 2141 c.2110C>T c.(2110-2112)CGG>TGG p.R704W LMF2_uc010hba.2_Missense_Mutation_p.R526W|LMF2_uc003blo.2_Missense_Mutation_p.R679W NM_033200 NP_149977 Q9BU23 LMF2_HUMAN lipase maturation factor 2 704 endoplasmic reticulum membrane|integral to membrane breast(1) 1 all_cancers(38;1.31e-09)|all_epithelial(38;1.81e-08)|all_lung(38;0.000817)|Breast(42;0.00387)|Lung NSC(38;0.0124)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178) BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247) TTCTTTCGCCGGGTGGTCCTC 0.672000 CHL1 10752 broad.mit.edu 37 3 447378 447378 + Missense_Mutation SNP T T A TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chr3:447378T>A uc003bou.2 + 27 3882 c.3611T>A c.(3610-3612)TTT>TAT p.F1204Y CHL1_uc003bot.2_Missense_Mutation_p.F1220Y|CHL1_uc011asi.1_Missense_Mutation_p.F1167Y NM_006614 NP_006605 O00533 CHL1_HUMAN cell adhesion molecule with homology to L1CAM 1204 Cytoplasmic (Potential). axon guidance|cell adhesion|signal transduction integral to membrane|plasma membrane|proteinaceous extracellular matrix skin(5)|central_nervous_system(4)|large_intestine(2)|ovary(1) 12 all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201) Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198) ACAGCAACTTTTCCCCTTCGG 0.428000 LMCD1 29995 broad.mit.edu 37 3 8543665 8543665 + Missense_Mutation SNP A A T TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chr3:8543665A>T uc003bqq.2 + 1 155 c.41A>T c.(40-42)AAG>ATG p.K14M uc003bqp.2_5'Flank|LMCD1_uc011atd.1_Translation_Start_Site|LMCD1_uc011ate.1_Translation_Start_Site NM_014583 NP_055398 Q9NZU5 LMCD1_HUMAN LIM and cysteine-rich domains 1 14 positive regulation of calcineurin-NFAT signaling pathway|regulation of cardiac muscle hypertrophy|transcription, DNA-dependent cytoplasm|extracellular space|nucleus transcription corepressor activity|zinc ion binding ovary(1) 1 OV - Ovarian serous cystadenocarcinoma(96;0.124) GGAGTTAAAAAGGTGAGTGGA 0.522000 SRGAP3 9901 broad.mit.edu 37 3 9055164 9055164 + Missense_Mutation SNP A A C TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chr3:9055164A>C uc003brf.1 - 17 2651 c.1975T>G c.(1975-1977)TTC>GTC p.F659V SRGAP3_uc003brg.1_Missense_Mutation_p.F635V NM_014850 NP_055665 O43295 SRGP2_HUMAN SLIT-ROBO Rho GTPase activating protein 3 659 Rho-GAP. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity|protein binding SRGAP3/RAF1(4) central_nervous_system(4)|skin(3)|urinary_tract(1)|breast(1) 9 OV - Ovarian serous cystadenocarcinoma(96;0.0563) GTAGGCCCGAAGCAGATGGCC 0.527000 T RAF1 pilocytic astrocytoma SLC6A11 6538 broad.mit.edu 37 3 10861460 10861460 + Missense_Mutation SNP C C T TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chr3:10861460C>T uc003bvz.2 + 3 489 c.455C>T c.(454-456)GCA>GTA p.A152V SLC6A11_uc003bvy.1_Missense_Mutation_p.A152V NM_014229 NP_055044 P48066 S6A11_HUMAN solute carrier family 6 (neurotransmitter 152 Extracellular (Potential). neurotransmitter secretion integral to plasma membrane gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity skin(3)|ovary(1) 4 OV - Ovarian serous cystadenocarcinoma(96;0.229) ATCATCCTGGCATGGGCCATT 0.493000 KCNH8 131096 broad.mit.edu 37 3 19492867 19492867 + Missense_Mutation SNP T T G TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chr3:19492867T>G uc003cbk.1 + 10 1991 c.1796T>G c.(1795-1797)CTT>CGT p.L599R KCNH8_uc011awe.1_3'UTR|KCNH8_uc010hex.1_Missense_Mutation_p.L60R|KCNH8_uc011awf.1_3'UTR NM_144633 NP_653234 Q96L42 KCNH8_HUMAN potassium voltage-gated channel, subfamily H, 599 cNMP.|Cytoplasmic (Potential). integral to membrane two-component sensor activity lung(4)|ovary(1) 5 ATGGAAGTTCTTAAAGACAGC 0.448000 CMTM6 54918 broad.mit.edu 37 3 32525568 32525568 + Missense_Mutation SNP A A C rs112118640 TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chr3:32525568A>C uc003cfa.1 - 4 602 c.436T>G c.(436-438)TTT>GTT p.F146V NM_017801 NP_060271 Q9NX76 CKLF6_HUMAN CKLF-like MARVEL transmembrane domain containing 146 MARVEL.|Helical; (Potential). chemotaxis extracellular space|integral to membrane cytokine activity 0 AGGAACATAAAACTTGCTATA 0.378000 GOLGA4 2803 broad.mit.edu 37 3 37368800 37368800 + Missense_Mutation SNP A A G TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chr3:37368800A>G uc003cgv.2 + 14 5727 c.5423A>G c.(5422-5424)TAT>TGT p.Y1808C GOLGA4_uc010hgr.1_Missense_Mutation_p.Y1369C|GOLGA4_uc003cgw.2_Missense_Mutation_p.Y1830C|GOLGA4_uc010hgs.2_Intron|GOLGA4_uc003cgx.2_Missense_Mutation_p.Y1689C NM_002078 NP_002069 Q13439 GOGA4_HUMAN golgi autoantigen, golgin subfamily a, 4 1808 Potential.|Glu-rich. Golgi to plasma membrane protein transport Golgi membrane|trans-Golgi network protein binding ovary(2)|breast(1)|central_nervous_system(1) 4 AACAAGAAATATTCCTTGATA 0.383000 ITGA9 3680 broad.mit.edu 37 3 37574896 37574896 + Missense_Mutation SNP G G T TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chr3:37574896G>T uc003chd.2 + 14 1518 c.1465G>T c.(1465-1467)GTG>TTG p.V489L ITGA9_uc003chc.2_Missense_Mutation_p.V489L NM_002207 NP_002198 Q13797 ITA9_HUMAN integrin, alpha 9 precursor 489 Extracellular (Potential). axon guidance|cell adhesion|integrin-mediated signaling pathway integrin complex receptor activity breast(3)|pancreas(1)|lung(1)|skin(1) 6 KIRC - Kidney renal clear cell carcinoma(284;0.165)|Kidney(284;0.197) ACAGCAGCCTGTGAACTGCCT 0.567000 SCN11A 11280 broad.mit.edu 37 3 38950547 38950547 + Missense_Mutation SNP T T A TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chr3:38950547T>A uc011ays.1 - 9 1439 c.1240A>T c.(1240-1242)ATA>TTA p.I414L NM_014139 NP_054858 Q9UI33 SCNBA_HUMAN sodium channel, voltage-gated, type XI, alpha 414 response to drug voltage-gated sodium channel complex voltage-gated sodium channel activity skin(6)|ovary(1)|haematopoietic_and_lymphoid_tissue(1)|pancreas(1) 9 Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226) Cocaine(DB00907) TTGGCCTCTATCTCTGCAGCT 0.493000 SLC25A38 54977 broad.mit.edu 37 3 39433052 39433052 + Missense_Mutation SNP T T C TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chr3:39433052T>C uc003cjo.2 + 4 798 c.397T>C c.(397-399)TCT>CCT p.S133P NM_017875 NP_060345 Q96DW6 S2538_HUMAN solute carrier family 25, member 38 133 Solcar 2.|Helical; Name=3; (Potential). erythrocyte differentiation|heme biosynthetic process|transport integral to membrane|mitochondrial inner membrane 0 KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661) GGGGGTGGGCTCTCGCTCTGT 0.527000 ZNF621 285268 broad.mit.edu 37 3 40573631 40573631 + Missense_Mutation SNP C C T TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chr3:40573631C>T uc003ckm.2 + 5 586 c.370C>T c.(370-372)CAC>TAC p.H124Y ZNF621_uc003ckn.2_Missense_Mutation_p.H124Y|ZNF621_uc003cko.2_Missense_Mutation_p.H89Y|ZNF621_uc011aze.1_Missense_Mutation_p.H116Y NM_001098414 NP_001091884 Q6ZSS3 ZN621_HUMAN zinc finger protein 621 124 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 KIRC - Kidney renal clear cell carcinoma(284;0.0515)|Kidney(284;0.0648) CGTTTCTCAGCACTTTGATTT 0.403000 NME6 10201 broad.mit.edu 37 3 48336623 48336623 + Silent SNP T T C TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chr3:48336623T>C uc003csp.3 - 5 387 c.336A>G c.(334-336)CCA>CCG p.P112P NME6_uc003cso.2_Silent_p.P120P|NME6_uc011bbh.1_Missense_Mutation_p.Q99R|NME6_uc010hju.2_Silent_p.P14P|NME6_uc011bbi.1_Intron NM_005793 NP_005784 O75414 NDK6_HUMAN nucleoside diphosphate kinase type 6 112 anti-apoptosis|apoptosis|CTP biosynthetic process|GTP biosynthetic process|negative regulation of cell growth|negative regulation of mitosis|UTP biosynthetic process mitochondrion ATP binding|metal ion binding|nucleoside diphosphate kinase activity 0 BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00609) GGATAGAATCTGGGGCCACAT 0.587000 PBRM1 55193 broad.mit.edu 37 3 52620667 52620667 + Missense_Mutation SNP T T A TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chr3:52620667T>A uc003des.2 - 20 3173 c.3161A>T c.(3160-3162)GAG>GTG p.E1054V PBRM1_uc003dex.2_RNA|PBRM1_uc003deq.2_Missense_Mutation_p.E1054V|PBRM1_uc003der.2_Missense_Mutation_p.E1022V|PBRM1_uc003det.2_Missense_Mutation_p.E1069V|PBRM1_uc003deu.2_Missense_Mutation_p.E1069V|PBRM1_uc003dev.2_RNA|PBRM1_uc003dew.2_Missense_Mutation_p.E1054V|PBRM1_uc010hmk.1_Missense_Mutation_p.E1029V|PBRM1_uc003dey.2_Missense_Mutation_p.E1029V|PBRM1_uc003dez.1_Missense_Mutation_p.E1053V|PBRM1_uc003dfb.1_Missense_Mutation_p.E966V|PBRM1_uc003dfa.1_Missense_Mutation_p.E400V NM_181042 NP_060635 Q86U86 PB1_HUMAN polybromo 1 isoform 4 1054 BAH 1. chromatin remodeling|mitosis|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent nuclear chromosome chromatin binding|DNA binding|protein binding kidney(136)|breast(4) 140 BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613) AAAAACATCCTCATCTCGGAA 0.398000 Mis|N|F|S|D|O clear cell renal carcinoma|breast IL17RD 54756 broad.mit.edu 37 3 57131970 57131970 + Silent SNP A A C TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chr3:57131970A>C uc003dil.2 - 12 1850 c.1761T>G c.(1759-1761)GTT>GTG p.V587V IL17RD_uc003dik.2_Silent_p.V563V|IL17RD_uc010hna.2_Silent_p.V443V|IL17RD_uc011bex.1_Silent_p.V443V NM_017563 NP_060033 Q8NFM7 I17RD_HUMAN interleukin 17 receptor D precursor 587 Cytoplasmic (Potential). Golgi membrane|integral to membrane|plasma membrane receptor activity 0 KIRC - Kidney renal clear cell carcinoma(284;0.0173)|Kidney(284;0.0204) CATCATTTAAAACCAAGCCCG 0.557000 EPHA3 2042 broad.mit.edu 37 3 89498524 89498524 + Silent SNP T T C TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chr3:89498524T>C uc003dqy.2 + 14 2721 c.2496T>C c.(2494-2496)GAT>GAC p.D832D EPHA3_uc010hon.1_RNA NM_005233 NP_005224 P29320 EPHA3_HUMAN ephrin receptor EphA3 isoform a precursor 832 Cytoplasmic (Potential).|Protein kinase. extracellular region|integral to plasma membrane ATP binding lung(17)|ovary(7)|large_intestine(4)|central_nervous_system(2)|stomach(1)|skin(1)|pancreas(1) 33 all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612) Lung NSC(201;0.0782) LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942) CCAATCAGGATGTAAGTATTT 0.438000 TSP Lung(6;0.00050) PROS1 5627 broad.mit.edu 37 3 93596037 93596037 + Splice_Site SNP T T A TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chr3:93596037T>A uc003drb.3 - 14 1986 c.1645_splice c.e14-1 p.D549_splice PROS1_uc010hoo.2_Splice_Site_p.D418_splice|PROS1_uc003dqz.3_Splice_Site_p.D418_splice NM_000313 NP_000304 P07225 PROS_HUMAN protein S, alpha preproprotein leukocyte migration|peptidyl-glutamic acid carboxylation|platelet activation|platelet degranulation|post-translational protein modification|proteolysis endoplasmic reticulum membrane|extracellular region|Golgi lumen|Golgi membrane|platelet alpha granule lumen calcium ion binding|endopeptidase inhibitor activity large_intestine(1) 1 Antihemophilic Factor(DB00025)|Drotrecogin alfa(DB00055)|Menadione(DB00170) CAGAATATCCTGAAGAGCAGA 0.338000 OR5H1 26341 broad.mit.edu 37 3 97852429 97852429 + Missense_Mutation SNP A A T TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chr3:97852429A>T uc011bgt.1 + 1 888 c.888A>T c.(886-888)CAA>CAT p.Q296H NM_001005338 NP_001005338 A6NKK0 OR5H1_HUMAN olfactory receptor, family 5, subfamily H, 296 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|breast(1) 2 GAAATAAGCAAGTCACAGTTT 0.323000 ZBTB11 27107 broad.mit.edu 37 3 101371354 101371354 + Missense_Mutation SNP A A C TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chr3:101371354A>C uc003dve.3 - 10 2860 c.2630T>G c.(2629-2631)ATG>AGG p.M877R NM_014415 NP_055230 O95625 ZBT11_HUMAN zinc finger protein ZNF-U69274 877 C2H2-type 10. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding skin(1) 1 ATGGTTGTTCATGTGTCTCCT 0.398000 ALCAM 214 broad.mit.edu 37 3 105243281 105243281 + Missense_Mutation SNP A A C TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chr3:105243281A>C uc003dvx.2 + 3 863 c.323A>C c.(322-324)GAA>GCA p.E108A ALCAM_uc003dvv.2_Missense_Mutation_p.E108A|ALCAM_uc003dvw.1_Missense_Mutation_p.E108A|ALCAM_uc003dvy.2_Missense_Mutation_p.E108A|ALCAM_uc011bhh.1_Missense_Mutation_p.E57A NM_001627 NP_001618 Q13740 CD166_HUMAN activated leukocyte cell adhesion molecule 108 Extracellular (Potential).|Ig-like V-type 1. cell adhesion|signal transduction integral to membrane receptor binding ovary(2)|breast(1) 3 ATCAGTGATGAAAAGAGATTT 0.413000 IFT57 55081 broad.mit.edu 37 3 107881466 107881466 + Missense_Mutation SNP A A G TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chr3:107881466A>G uc003dwx.3 - 11 1396 c.1148T>C c.(1147-1149)CTG>CCG p.L383P NM_018010 NP_060480 Q9NWB7 IFT57_HUMAN estrogen-related receptor beta like 1 383 pDED. activation of caspase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent cilium|microtubule basal body DNA binding|protein binding ovary(1)|skin(1)|pancreas(1) 3 OV - Ovarian serous cystadenocarcinoma(3;0.0428)|Epithelial(53;0.246) TTCTTGCTTCAGTTTTGTTAA 0.363000 MYH15 22989 broad.mit.edu 37 3 108118049 108118049 + Missense_Mutation SNP A A T TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chr3:108118049A>T uc003dxa.1 - 35 4919 c.4862T>A c.(4861-4863)ATT>AAT p.I1621N NM_014981 NP_055796 Q9Y2K3 MYH15_HUMAN myosin, heavy polypeptide 15 1621 Potential. myofibril|myosin filament actin binding|ATP binding|calmodulin binding|motor activity ovary(5)|central_nervous_system(2) 7 GGTAACCTCAATTCTGCTCTT 0.478000 GRAMD1C 54762 broad.mit.edu 37 3 113652477 113652477 + Silent SNP T T G TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chr3:113652477T>G uc003eaq.3 + 12 1405 c.1329T>G c.(1327-1329)TCT>TCG p.S443S GRAMD1C_uc011bil.1_RNA|GRAMD1C_uc011bim.1_RNA|GRAMD1C_uc003ear.2_Silent_p.S276S|GRAMD1C_uc003eas.2_Silent_p.S238S|GRAMD1C_uc003eat.2_Silent_p.S102S NM_017577 NP_060047 Q8IYS0 GRM1C_HUMAN GRAM domain containing 1C 443 integral to membrane ovary(2)|skin(1) 3 TCATCCGATCTTCAAAACAGA 0.299000 ZDHHC23 254887 broad.mit.edu 37 3 113672689 113672689 + Missense_Mutation SNP T T G TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chr3:113672689T>G uc003eau.2 + 3 603 c.304T>G c.(304-306)TTC>GTC p.F102V ZDHHC23_uc003eav.2_Missense_Mutation_p.F96V NM_173570 NP_775841 Q8IYP9 ZDH23_HUMAN zinc finger, DHHC domain containing 23 102 Helical; (Potential). integral to membrane acyltransferase activity|zinc ion binding ovary(2) 2 GCTGCCTGTCTTCCTTCATGT 0.512000 ZDHHC23 254887 broad.mit.edu 37 3 113675244 113675244 + Missense_Mutation SNP T T G TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chr3:113675244T>G uc003eau.2 + 4 1230 c.931T>G c.(931-933)TTC>GTC p.F311V ZDHHC23_uc003eav.2_Missense_Mutation_p.F305V|ZDHHC23_uc003eaw.1_5'Flank NM_173570 NP_775841 Q8IYP9 ZDH23_HUMAN zinc finger, DHHC domain containing 23 311 Helical; (Potential). integral to membrane acyltransferase activity|zinc ion binding ovary(2) 2 CCTTTTGATCTTCTTGCTCAC 0.388000 ADPRH 141 broad.mit.edu 37 3 119306346 119306346 + Missense_Mutation SNP A A G TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chr3:119306346A>G uc003ecs.2 + 5 993 c.695A>G c.(694-696)AAA>AGA p.K232R ADPRH_uc010hqv.2_Missense_Mutation_p.K232R|ADPRH_uc011bjb.1_Missense_Mutation_p.K125R|ADPRH_uc003ect.2_Missense_Mutation_p.K232R NM_001125 NP_001116 P54922 ADPRH_HUMAN ADP-ribosylarginine hydrolase 232 protein de-ADP-ribosylation ADP-ribosylarginine hydrolase activity|magnesium ion binding ovary(1) 1 Lung NSC(201;0.0977) GBM - Glioblastoma multiforme(114;0.23) AATTACCTAAAACTTAGAGGG 0.408000 PLA1A 51365 broad.mit.edu 37 3 119325745 119325745 + Silent SNP A A G TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chr3:119325745A>G uc003ecu.2 + 2 237 c.198A>G c.(196-198)CTA>CTG p.L66L PLA1A_uc003ecv.2_Silent_p.L66L|PLA1A_uc003ecw.2_RNA|PLA1A_uc011bjc.1_Intron NM_015900 NP_056984 Q53H76 PLA1A_HUMAN phospholipase A1 member A precursor 66 lipid catabolic process|phosphatidylserine metabolic process extracellular region phospholipase A1 activity upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1) 3 GTGGGCAGCTAGTAGAAGGAA 0.483000 PARP9 83666 broad.mit.edu 37 3 122264287 122264287 + Missense_Mutation SNP T T G TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chr3:122264287T>G uc010hri.2 - 7 1626 c.1481A>C c.(1480-1482)AAT>ACT p.N494T PARP9_uc003eff.3_Missense_Mutation_p.N459T|PARP9_uc011bjs.1_Missense_Mutation_p.N459T|PARP9_uc003efg.2_Missense_Mutation_p.N39T|PARP9_uc003efi.2_Missense_Mutation_p.N459T|PARP9_uc003efh.2_Missense_Mutation_p.N494T|PARP9_uc003efj.2_Missense_Mutation_p.N459T NM_001146102 NP_001139574 Q8IXQ6 PARP9_HUMAN poly (ADP-ribose) polymerase family, member 9 494 cell migration cytosol|nucleus NAD+ ADP-ribosyltransferase activity|protein binding ovary(1)|pancreas(1)|prostate(1)|skin(1) 4 GBM - Glioblastoma multiforme(114;0.0519) ACCACTGTAATTGTTCAAACT 0.443000 DIRC2 84925 broad.mit.edu 37 3 122591434 122591434 + Missense_Mutation SNP T T G TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chr3:122591434T>G uc003efw.3 + 8 1450 c.1311T>G c.(1309-1311)TTT>TTG p.F437L DIRC2_uc010hrl.2_RNA|DIRC2_uc010hrm.2_Missense_Mutation_p.F275L NM_032839 NP_116228 Q96SL1 DIRC2_HUMAN disrupted in renal carcinoma 2 437 transport integral to membrane 0 GBM - Glioblastoma multiforme(114;0.0614) TTCTCACATTTTATCATACAG 0.299000 PODXL2 50512 broad.mit.edu 37 3 127379476 127379476 + Missense_Mutation SNP A A C rs115568415 byFrequency TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chr3:127379476A>C uc003ejq.2 + 3 629 c.605A>C c.(604-606)CAG>CCG p.Q202P NM_015720 NP_056535 Q9NZ53 PDXL2_HUMAN podocalyxin-like 2 precursor 202 Extracellular (Potential). leukocyte tethering or rolling integral to plasma membrane glycosaminoglycan binding|protein binding ovary(1)|central_nervous_system(1) 2 GCCAAGCCTCAGGTCCGTGAC 0.418000 IFT122 55764 broad.mit.edu 37 3 129182431 129182431 + Silent SNP C C G TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chr3:129182431C>G uc003emm.2 + 6 584 c.378C>G c.(376-378)GTC>GTG p.V126V IFT122_uc003eml.2_Silent_p.V177V|IFT122_uc003emn.2_Silent_p.V126V|IFT122_uc003emo.2_Silent_p.V74V|IFT122_uc003emp.2_5'UTR|IFT122_uc010htc.2_Silent_p.V177V|IFT122_uc011bky.1_5'UTR|IFT122_uc003emq.2_Silent_p.V74V|IFT122_uc003emr.2_5'UTR|IFT122_uc011bla.1_5'UTR|IFT122_uc011bkx.1_Silent_p.V74V|IFT122_uc011bkz.1_RNA NM_052989 NP_443715 Q9HBG6 IF122_HUMAN WD repeat domain 10 isoform 2 126 WD 3. camera-type eye morphogenesis|cilium morphogenesis|embryonic body morphogenesis|embryonic heart tube development|limb development|neural tube closure microtubule basal body|photoreceptor connecting cilium ovary(1)|skin(1) 2 AGAAGTCTGTCTCCAAACACA 0.338000 STAG1 10274 broad.mit.edu 37 3 136162135 136162135 + Missense_Mutation SNP C C T TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chr3:136162135C>T uc003era.1 - 15 1832 c.1540G>A c.(1540-1542)GAG>AAG p.E514K STAG1_uc003erb.1_Missense_Mutation_p.E514K|STAG1_uc003erc.1_Missense_Mutation_p.E288K|STAG1_uc010hua.1_Missense_Mutation_p.E377K NM_005862 NP_005853 Q8WVM7 STAG1_HUMAN stromal antigen 1 514 cell division|chromosome segregation|mitotic metaphase/anaphase transition|mitotic prometaphase cell junction|chromatin|chromosome, centromeric region|nucleoplasm protein binding ovary(2) 2 ATACCTTCCTCTCCTTGAACA 0.358000 DZIP1L 199221 broad.mit.edu 37 3 137786411 137786411 + Missense_Mutation SNP G G A TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chr3:137786411G>A uc003erq.2 - 14 2327 c.1964C>T c.(1963-1965)ACC>ATC p.T655I NM_173543 NP_775814 Q8IYY4 DZI1L_HUMAN DAZ interacting protein 1-like 655 intracellular zinc ion binding ovary(1)|pancreas(1) 2 CTCCTCCGAGGTCTCTGTGTC 0.637000 CLSTN2 64084 broad.mit.edu 37 3 140275381 140275381 + Silent SNP C C T TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chr3:140275381C>T uc003etn.2 + 11 1891 c.1701C>T c.(1699-1701)ATC>ATT p.I567I CLSTN2_uc003etm.2_Silent_p.I567I NM_022131 NP_071414 Q9H4D0 CSTN2_HUMAN calsyntenin 2 precursor 567 Extracellular (Potential). homophilic cell adhesion endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane calcium ion binding skin(3)|large_intestine(2)|pancreas(1)|central_nervous_system(1) 7 CGCAGTCCATCCTGGTGATGG 0.517000 HNSCC(16;0.037) IGSF10 285313 broad.mit.edu 37 3 151155183 151155183 + Missense_Mutation SNP A A G TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chr3:151155183A>G uc011bod.1 - 6 7166 c.7166T>C c.(7165-7167)CTG>CCG p.L2389P IGSF10_uc011bob.1_Missense_Mutation_p.L416P|IGSF10_uc011boc.1_Missense_Mutation_p.L368P NM_178822 NP_849144 Q6WRI0 IGS10_HUMAN immunoglobulin superfamily, member 10 precursor 2389 Ig-like C2-type 10. cell differentiation|multicellular organismal development|ossification extracellular region skin(7)|ovary(5)|central_nervous_system(1) 13 LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517) GCTTGCTATCAGATACTGATA 0.388000 KCNAB1 7881 broad.mit.edu 37 3 156170727 156170727 + Splice_Site SNP T T C TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chr3:156170727T>C uc003far.2 + 3 421 c.357_splice c.e3+2 p.E119_splice KCNAB1_uc011bon.1_Splice_Site_p.E119_splice|KCNAB1_uc003fas.2_Splice_Site_p.E108_splice|KCNAB1_uc003fat.2_Splice_Site_p.E101_splice|KCNAB1_uc010hvt.1_Splice_Site_p.E101_splice NM_172160 NP_751892 Q14722 KCAB1_HUMAN potassium voltage-gated channel, shaker-related cytoplasm|integral to membrane oxidoreductase activity|potassium channel regulator activity|voltage-gated potassium channel activity ovary(3)|skin(1) 4 LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465) TCAGATGAGGTAAGTTACCTT 0.368000 SHOX2 6474 broad.mit.edu 37 3 157818055 157818055 + Missense_Mutation SNP G G C TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chr3:157818055G>C uc003fbr.2 - 3 740 c.601C>G c.(601-603)CAA>GAA p.Q201E SHOX2_uc003fbs.2_Missense_Mutation_p.Q225E|SHOX2_uc010hvw.2_Missense_Mutation_p.Q201E NM_006884 NP_006875 O60902 SHOX2_HUMAN short stature homeobox 2 isoform a 201 nervous system development nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity 0 Lung(72;0.00318)|LUSC - Lung squamous cell carcinoma(72;0.0043) TTATGGAGTTGATTTTCTTGT 0.308000 PIK3CA 5290 broad.mit.edu 37 3 178921553 178921553 + Missense_Mutation SNP T T A rs121913284 TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chr3:178921553T>A uc003fjk.2 + 5 1192 c.1035T>A c.(1033-1035)AAT>AAA p.N345K NM_006218 NP_006209 P42336 PK3CA_HUMAN phosphoinositide-3-kinase, catalytic, alpha 345 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.N345K(29)|p.N345I(2)|p.N345S(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) CCTACGTGAATGTAAATATTC 0.308000 57 Mis colorectal|gastric|gliobastoma|breast HNSCC(19;0.045)|TSP Lung(28;0.18) USP13 8975 broad.mit.edu 37 3 179426569 179426569 + Missense_Mutation SNP A A T TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chr3:179426569A>T uc003fkh.2 + 6 710 c.629A>T c.(628-630)AAG>ATG p.K210M USP13_uc003fkf.2_Missense_Mutation_p.K210M NM_003940 NP_003931 Q92995 UBP13_HUMAN ubiquitin thiolesterase 13 210 UBP-type. ubiquitin-dependent protein catabolic process cysteine-type endopeptidase activity|omega peptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding ovary(1) 1 all_cancers(143;7.79e-15)|Ovarian(172;0.0338)|Breast(254;0.148) OV - Ovarian serous cystadenocarcinoma(80;1e-25)|GBM - Glioblastoma multiforme(14;0.0169) AGTGGTTGGAAGTGTGCCAGA 0.493000 EIF2B5 8893 broad.mit.edu 37 3 183861999 183861999 + Missense_Mutation SNP T T C TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chr3:183861999T>C uc003fmp.2 + 14 2346 c.1982T>C c.(1981-1983)ATT>ACT p.I661T EIF2B5_uc003fmq.2_Missense_Mutation_p.I382T|EIF2B5_uc003fmr.2_Missense_Mutation_p.I69T NM_003907 NP_003898 Q13144 EI2BE_HUMAN eukaryotic translation initiation factor 2B, 661 W2. astrocyte development|myelination|negative regulation of translational initiation in response to stress|oligodendrocyte development|ovarian follicle development|positive regulation of translational initiation|response to glucose stimulus|response to heat|response to peptide hormone stimulus|RNA metabolic process cytosol|eukaryotic translation initiation factor 2B complex|nucleus guanyl-nucleotide exchange factor activity|transferase activity|translation initiation factor activity|translation initiation factor binding ovary(5) 5 all_cancers(143;7.59e-11)|Ovarian(172;0.0303) Epithelial(37;7.06e-36)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22) GCTCTTGGTATTTCCATGGCC 0.478000 PSMD2 5708 broad.mit.edu 37 3 184023845 184023845 + Missense_Mutation SNP A A C TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chr3:184023845A>C uc003fnn.1 + 14 1739 c.1706A>C c.(1705-1707)AAG>ACG p.K569T PSMD2_uc011brj.1_Missense_Mutation_p.K410T|PSMD2_uc011brk.1_Missense_Mutation_p.K439T NM_002808 NP_002799 Q13200 PSMD2_HUMAN proteasome 26S non-ATPase subunit 2 569 PC 5. anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|regulation of protein catabolic process|S phase of mitotic cell cycle|viral reproduction proteasome regulatory particle enzyme regulator activity|protein binding 0 all_cancers(143;1.54e-10)|Ovarian(172;0.0339) Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22) Bortezomib(DB00188) CCTGTAGGGAAGGGTGAGGCC 0.532000 OREG0015947 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) VPS8 23355 broad.mit.edu 37 3 184700383 184700383 + Missense_Mutation SNP G G A TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chr3:184700383G>A uc003fpb.1 + 40 3615 c.3444G>A c.(3442-3444)ATG>ATA p.M1148I VPS8_uc010hyd.1_Missense_Mutation_p.M1058I|VPS8_uc010hye.1_Missense_Mutation_p.M577I NM_015303 NP_056118 Q8N3P4 VPS8_HUMAN vacuolar protein sorting 8 homolog isoform b 1150 zinc ion binding ovary(1) 1 all_cancers(143;2.51e-11)|Ovarian(172;0.0339)|Breast(254;0.247) Epithelial(37;1.02e-33)|OV - Ovarian serous cystadenocarcinoma(80;4.81e-22) TGGAGGCAATGATGGCCCCTC 0.393000 MAP3K13 9175 broad.mit.edu 37 3 185191526 185191526 + Nonsense_Mutation SNP C C T TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chr3:185191526C>T uc010hyf.2 + 12 2673 c.2407C>T c.(2407-2409)CGA>TGA p.R803* MAP3K13_uc011brt.1_Nonsense_Mutation_p.R596*|MAP3K13_uc011bru.1_Nonsense_Mutation_p.R659*|MAP3K13_uc003fpi.2_Nonsense_Mutation_p.R803*|MAP3K13_uc010hyg.2_Nonsense_Mutation_p.R493* NM_004721 NP_004712 O43283 M3K13_HUMAN mitogen-activated protein kinase kinase kinase 803 activation of MAPKK activity|JNK cascade|positive regulation of NF-kappaB transcription factor activity|protein autophosphorylation cytoplasm|membrane|membrane fraction ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein kinase binding ovary(2)|skin(1) 3 all_cancers(143;7.21e-11)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;1.93e-20) AGCGCTACCTCGAAAAACAAG 0.507000 POLN 353497 broad.mit.edu 37 4 2077220 2077220 + Missense_Mutation SNP A A G TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chr4:2077220A>G uc003ger.2 - 22 2414 c.2414T>C c.(2413-2415)CTG>CCG p.L805P POLN_uc010icg.1_Missense_Mutation_p.L253P NM_181808 NP_861524 Q7Z5Q5 DPOLN_HUMAN DNA-directed DNA polymerase nu 805 DNA repair|DNA replication nucleus DNA binding|DNA-directed DNA polymerase activity kidney(2)|ovary(1)|skin(1) 4 OV - Ovarian serous cystadenocarcinoma(23;0.0955) TTCAAACAGCAGCTCATCATG 0.622000 DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage JAKMIP1 152789 broad.mit.edu 37 4 6082037 6082037 + Silent SNP T T C TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chr4:6082037T>C uc003giu.3 - 7 1380 c.1104A>G c.(1102-1104)AAA>AAG p.K368K JAKMIP1_uc010idb.1_Silent_p.K368K|JAKMIP1_uc010idc.1_Silent_p.K203K|JAKMIP1_uc010idd.1_Silent_p.K368K|JAKMIP1_uc011bwc.1_Silent_p.K203K|JAKMIP1_uc003giv.3_Silent_p.K368K|JAKMIP1_uc010ide.2_Silent_p.K368K NM_144720 NP_653321 Q96N16 JKIP1_HUMAN janus kinase and microtubule interacting protein 368 Mediates interaction with TYK2 and GABBR1.|Potential. protein transport cytoplasm|membrane|microtubule|peripheral to membrane of membrane fraction|ribonucleoprotein complex GABA receptor binding|RNA binding large_intestine(1)|pancreas(1)|ovary(1)|skin(1) 4 ACAGCTTTTCTTTCTGCAGCC 0.582000 SLC10A4 201780 broad.mit.edu 37 4 48490855 48490855 + Missense_Mutation SNP T T C TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chr4:48490855T>C uc003gyc.2 + 3 1432 c.1213T>C c.(1213-1215)TCT>CCT p.S405P ZAR1_uc003gyd.2_5'Flank NM_152679 NP_689892 Q96EP9 NTCP4_HUMAN solute carrier family 10, member 4 405 Extracellular (Potential). integral to membrane bile acid:sodium symporter activity central_nervous_system(1) 1 TACAGATATTTCTTATAAAAA 0.358000 UGT2B7 7364 broad.mit.edu 37 4 69964267 69964267 + Missense_Mutation SNP C C T TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chr4:69964267C>T uc003heg.3 + 2 777 c.731C>T c.(730-732)ACT>ATT p.T244I UGT2B7_uc010ihq.2_Missense_Mutation_p.T244I NM_001074 NP_001065 P16662 UD2B7_HUMAN UDP glucuronosyltransferase 2B7 precursor 244 lipid metabolic process endoplasmic reticulum membrane|integral to membrane|microsome glucuronosyltransferase activity ovary(1)|skin(1) 2 GGAAGACCCACTACATTATCT 0.353000 UGT2B7 7364 broad.mit.edu 37 4 69973826 69973826 + Missense_Mutation SNP C C T TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chr4:69973826C>T uc003heg.3 + 5 1142 c.1096C>T c.(1096-1098)CCA>TCA p.P366S UGT2B7_uc010ihq.2_Intron NM_001074 NP_001065 P16662 UD2B7_HUMAN UDP glucuronosyltransferase 2B7 precursor 366 lipid metabolic process endoplasmic reticulum membrane|integral to membrane|microsome glucuronosyltransferase activity ovary(1)|skin(1) 2 CCTAGGTCATCCAAAGACCAG 0.418000 ANKRD17 26057 broad.mit.edu 37 4 74019707 74019707 + Missense_Mutation SNP C C T TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chr4:74019707C>T uc003hgp.2 - 6 1241 c.1124G>A c.(1123-1125)GGA>GAA p.G375E ANKRD17_uc003hgo.2_Missense_Mutation_p.G262E|ANKRD17_uc003hgq.2_Missense_Mutation_p.G375E|ANKRD17_uc003hgr.2_Missense_Mutation_p.G375E|ANKRD17_uc011cbd.1_Missense_Mutation_p.G4E NM_032217 NP_115593 O75179 ANR17_HUMAN ankyrin repeat domain protein 17 isoform a 375 ANK 5. interspecies interaction between organisms cytoplasm|nucleus RNA binding ovary(5)|skin(3)|upper_aerodigestive_tract(1)|lung(1) 10 Breast(15;0.000295) Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154) TCCAGCACTTCCAGCTTCCAT 0.443000 NAAA 27163 broad.mit.edu 37 4 76846936 76846936 + Silent SNP G G A TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chr4:76846936G>A uc003hjb.2 - 5 682 c.618C>T c.(616-618)ATC>ATT p.I206I NAAA_uc003hja.2_Silent_p.I206I|NAAA_uc003hjc.3_Silent_p.I206I|NAAA_uc003hjd.3_Intron|NAAA_uc011cbq.1_Silent_p.I105I NM_014435 NP_055250 Q02083 NAAA_HUMAN N-acylethanolamine acid amidase isoform 1 206 lipid metabolic process lysosome hydrolase activity skin(1) 1 ACAGGGCAGCGATAGCATTCT 0.433000 NUP54 53371 broad.mit.edu 37 4 77053844 77053844 + Missense_Mutation SNP G G A TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chr4:77053844G>A uc003hjs.2 - 6 867 c.739C>T c.(739-741)CGT>TGT p.R247C NUP54_uc010ije.2_5'UTR|NUP54_uc011cbs.1_Missense_Mutation_p.R67C|NUP54_uc011cbt.1_Missense_Mutation_p.R199C|NUP54_uc003hjt.2_Missense_Mutation_p.R67C NM_017426 NP_059122 Q7Z3B4 NUP54_HUMAN nucleoporin 54kDa 247 9 X 2 AA repeats of F-G. carbohydrate metabolic process|glucose transport|mRNA transport|regulation of glucose transport|transmembrane transport|viral reproduction cytoplasm|nuclear membrane|nuclear pore|nucleoplasm ovary(1)|lung(1) 2 TTTGGCGAACGCTCAACAACA 0.373000 PRKG2 5593 broad.mit.edu 37 4 82064024 82064024 + Missense_Mutation SNP A A C TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chr4:82064024A>C uc003hmh.2 - 10 1345 c.1331T>G c.(1330-1332)TTT>TGT p.F444C PRKG2_uc011ccf.1_Missense_Mutation_p.F24C|PRKG2_uc011ccg.1_Missense_Mutation_p.F24C|PRKG2_uc011cch.1_Intron NM_006259 NP_006250 Q13237 KGP2_HUMAN protein kinase, cGMP-dependent, type II 444 platelet activation|signal transduction cytosol ATP binding|cGMP binding|cGMP-dependent protein kinase activity breast(3)|central_nervous_system(2)|ovary(1)|large_intestine(1) 7 TGATGAGGAAAATCTGGCCAC 0.468000 SEC31A 22872 broad.mit.edu 37 4 83774845 83774845 + Missense_Mutation SNP T T A TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chr4:83774845T>A uc003hnf.2 - 18 2196 c.2032A>T c.(2032-2034)AAT>TAT p.N678Y SEC31A_uc003hne.2_Missense_Mutation_p.N411Y|SEC31A_uc011ccl.1_Missense_Mutation_p.N639Y|SEC31A_uc003hnl.2_Missense_Mutation_p.N639Y|SEC31A_uc003hng.2_Missense_Mutation_p.N678Y|SEC31A_uc003hnh.2_Missense_Mutation_p.N678Y|SEC31A_uc003hni.2_Missense_Mutation_p.N678Y|SEC31A_uc003hnj.2_Missense_Mutation_p.N639Y|SEC31A_uc011ccm.1_Missense_Mutation_p.N673Y|SEC31A_uc011ccn.1_Missense_Mutation_p.N678Y|SEC31A_uc003hnk.2_Missense_Mutation_p.N639Y|SEC31A_uc003hnm.2_Missense_Mutation_p.N678Y|SEC31A_uc003hnn.1_Missense_Mutation_p.N678Y NM_001077207 NP_001070675 O94979 SC31A_HUMAN SEC31 homolog A isoform 1 678 WD 7. COPII vesicle coating|post-translational protein modification|protein N-linked glycosylation via asparagine|protein transport|response to calcium ion COPII vesicle coat|cytosol|endoplasmic reticulum membrane|perinuclear region of cytoplasm calcium-dependent protein binding SEC31A/JAK2(4)|SEC31A/ALK(3) haematopoietic_and_lymphoid_tissue(4)|soft_tissue(3)|breast(1) 8 Hepatocellular(203;0.114) TCTCCTTCATTTTCAAGCCTG 0.388000 PTPN13 5783 broad.mit.edu 37 4 87684297 87684297 + Missense_Mutation SNP A A T TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chr4:87684297A>T uc003hpz.2 + 24 4451 c.3971A>T c.(3970-3972)GAT>GTT p.D1324V PTPN13_uc003hpy.2_Missense_Mutation_p.D1324V|PTPN13_uc003hqa.2_Missense_Mutation_p.D1305V|PTPN13_uc003hqb.2_Missense_Mutation_p.D1133V NM_080683 NP_542414 Q12923 PTN13_HUMAN protein tyrosine phosphatase, non-receptor type 1324 cytoplasm|cytoskeleton|plasma membrane protein binding|protein binding|protein tyrosine phosphatase activity ovary(4)|breast(1)|kidney(1) 6 Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242) OV - Ovarian serous cystadenocarcinoma(123;0.00082) TCAGACATGGATGAAGCCACT 0.373000 TACR3 6870 broad.mit.edu 37 4 104511116 104511116 + Missense_Mutation SNP C C T TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chr4:104511116C>T uc003hxe.1 - 5 1264 c.1121G>A c.(1120-1122)TGT>TAT p.C374Y NM_001059 NP_001050 P29371 NK3R_HUMAN tachykinin receptor 3 374 Cytoplasmic (Potential). integral to plasma membrane tachykinin receptor activity ovary(3)|lung(2)|breast(1)|skin(1) 7 Hepatocellular(203;0.217) UCEC - Uterine corpus endometrioid carcinoma (10;0.22)|OV - Ovarian serous cystadenocarcinoma(123;3.4e-08) GATGAAAGGACACCAGCGAAA 0.453000 PPA2 27068 broad.mit.edu 37 4 106320269 106320269 + Missense_Mutation SNP A A C TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chr4:106320269A>C uc003hxl.2 - 8 728 c.708T>G c.(706-708)AAT>AAG p.N236K PPA2_uc003hxm.2_Missense_Mutation_p.N218K|PPA2_uc003hxn.2_Missense_Mutation_p.N207K|PPA2_uc003hxo.2_Missense_Mutation_p.N134K|PPA2_uc003hxp.2_Missense_Mutation_p.N70K|PPA2_uc003hxq.2_Missense_Mutation_p.N143K|PPA2_uc003hxr.2_Missense_Mutation_p.N143K NM_176869 NP_789845 Q9H2U2 IPYR2_HUMAN inorganic pyrophosphatase 2 isoform 1 precursor 236 diphosphate metabolic process|tRNA aminoacylation for protein translation mitochondrial matrix inorganic diphosphatase activity|magnesium ion binding pancreas(1) 1 Myeloproliferative disorder(5;0.0255)|Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;2.03e-07) ATCTAAACCAATTAAGAGTAG 0.294000 TBCK 93627 broad.mit.edu 37 4 107016730 107016730 + Missense_Mutation SNP T T A TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chr4:107016730T>A uc010ilv.2 - 25 2845 c.2480A>T c.(2479-2481)GAG>GTG p.E827V TBCK_uc003hyb.2_Missense_Mutation_p.E570V|TBCK_uc003hye.2_Missense_Mutation_p.E788V|TBCK_uc003hyc.2_Missense_Mutation_p.E764V|TBCK_uc003hyd.2_Missense_Mutation_p.E655V|TBCK_uc003hyf.2_Missense_Mutation_p.E827V NM_001163435 NP_001156907 Q8TEA7 TBCK_HUMAN TBC domain-containing protein kinase-like 827 Rhodanese. intracellular Rab GTPase activator activity large_intestine(2)|upper_aerodigestive_tract(1)|stomach(1)|ovary(1) 5 CTGGGTAAGCTCCCCTTCTGC 0.453000 ANK2 287 broad.mit.edu 37 4 114279513 114279513 + Missense_Mutation SNP T T C TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chr4:114279513T>C uc003ibe.3 + 38 9839 c.9739T>C c.(9739-9741)TCT>CCT p.S3247P ANK2_uc003ibd.3_Intron|ANK2_uc003ibf.3_Intron|ANK2_uc011cgc.1_Intron|ANK2_uc003ibg.3_Intron|ANK2_uc003ibh.3_Intron|ANK2_uc011cgd.1_Missense_Mutation_p.S549P|ANK2_uc011cgb.1_Missense_Mutation_p.S3262P NM_001148 NP_001139 Q01484 ANK2_HUMAN ankyrin 2 isoform 1 3214 axon guidance|signal transduction apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere protein binding|protein binding central_nervous_system(7)|ovary(3)|large_intestine(2)|breast(1)|skin(1) 14 Ovarian(17;0.0448)|Hepatocellular(203;0.218) OV - Ovarian serous cystadenocarcinoma(123;4.92e-05) CTGCCCCGACTCTTCTGAACC 0.483000 ANK2 287 broad.mit.edu 37 4 114302620 114302620 + Missense_Mutation SNP A A T TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chr4:114302620A>T uc003ibe.3 + 46 11967 c.11867A>T c.(11866-11868)AAT>ATT p.N3956I ANK2_uc003ibd.3_Missense_Mutation_p.N1862I|ANK2_uc003ibf.3_Missense_Mutation_p.N1871I|ANK2_uc011cgc.1_Missense_Mutation_p.N1047I|ANK2_uc003ibg.3_Missense_Mutation_p.N947I|ANK2_uc003ibh.3_Missense_Mutation_p.N576I|ANK2_uc011cgd.1_Missense_Mutation_p.N1258I|ANK2_uc010imr.2_Missense_Mutation_p.M130L|ANK2_uc010ims.2_Missense_Mutation_p.M69L NM_001148 NP_001139 Q01484 ANK2_HUMAN ankyrin 2 isoform 1 3923 NN -> SM (in Ref. 5; AC093879). axon guidance|signal transduction apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere protein binding|protein binding central_nervous_system(7)|ovary(3)|large_intestine(2)|breast(1)|skin(1) 14 Ovarian(17;0.0448)|Hepatocellular(203;0.218) OV - Ovarian serous cystadenocarcinoma(123;4.92e-05) CAGGACAACAATGAGTAAAGC 0.478000 MYOZ2 51778 broad.mit.edu 37 4 120107204 120107204 + Missense_Mutation SNP C C T TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chr4:120107204C>T uc003icp.3 + 6 857 c.644C>T c.(643-645)ACA>ATA p.T215I NM_016599 NP_057683 Q9NPC6 MYOZ2_HUMAN myozenin 2 215 protein phosphatase 2B binding 0 CTATTGCTAACAGATCCCAGG 0.383000 PDE5A 8654 broad.mit.edu 37 4 120423782 120423782 + Missense_Mutation SNP A A C TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chr4:120423782A>C uc003idh.2 - 19 2515 c.2360T>G c.(2359-2361)TTT>TGT p.F787C uc003ide.3_Intron|PDE5A_uc003idf.2_Missense_Mutation_p.F745C|PDE5A_uc003idg.2_Missense_Mutation_p.F735C NM_001083 NP_001074 O76074 PDE5A_HUMAN phosphodiesterase 5A isoform 1 787 Catalytic (By similarity). platelet activation|signal transduction cytosol 3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|zinc ion binding 0 Dipyridamole(DB00975)|Pentoxifylline(DB00806)|Sildenafil(DB00203)|Tadalafil(DB00820)|Theophylline(DB00277)|Vardenafil(DB00862) TCCTTGATCAAAAAATTCAGT 0.313000 PDE5A 8654 broad.mit.edu 37 4 120488237 120488237 + Missense_Mutation SNP T T G TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chr4:120488237T>G uc003idh.2 - 4 1049 c.894A>C c.(892-894)AAA>AAC p.K298N PDE5A_uc003idf.2_Missense_Mutation_p.K256N|PDE5A_uc003idg.2_Missense_Mutation_p.K246N NM_001083 NP_001074 O76074 PDE5A_HUMAN phosphodiesterase 5A isoform 1 298 GAF 1. platelet activation|signal transduction cytosol 3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|zinc ion binding 0 Dipyridamole(DB00975)|Pentoxifylline(DB00806)|Sildenafil(DB00203)|Tadalafil(DB00820)|Theophylline(DB00277)|Vardenafil(DB00862) CCTTTTCATCTTTTTCAGTAA 0.378000 DCLK2 166614 broad.mit.edu 37 4 151168778 151168778 + Missense_Mutation SNP T T C TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chr4:151168778T>C uc003ilm.3 + 13 1902 c.1802T>C c.(1801-1803)CTC>CCC p.L601P DCLK2_uc003iln.3_Missense_Mutation_p.L600P|DCLK2_uc003ilo.3_Missense_Mutation_p.L618P|DCLK2_uc003ilp.3_RNA NM_001040260 NP_001035350 Q8N568 DCLK2_HUMAN doublecortin-like kinase 2 isoform a 601 Protein kinase. intracellular signal transduction cytoplasm|cytoskeleton ATP binding|protein serine/threonine kinase activity ovary(3) 3 all_hematologic(180;0.151) CAGGAAGATCTCTTCGACCAG 0.488000 PET112L 5188 broad.mit.edu 37 4 152638205 152638205 + Nonsense_Mutation SNP G G A TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chr4:152638205G>A uc003iml.2 - 4 475 c.463C>T c.(463-465)CAG>TAG p.Q155* PET112L_uc003imm.3_Nonsense_Mutation_p.Q155* NM_004564 NP_004555 O75879 GATB_HUMAN PET112-like precursor 155 mitochondrion ATP binding|carbon-nitrogen ligase activity, with glutamine as amido-N-donor|translation factor activity, nucleic acid binding 0 all_hematologic(180;0.093) Acute lymphoblastic leukemia(8;0.138) L-Glutamic Acid(DB00142)|L-Glutamine(DB00130) GGGAGCCTCTGCTGGGTAATT 0.478000 TDO2 6999 broad.mit.edu 37 4 156841122 156841122 + Missense_Mutation SNP A A G TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chr4:156841122A>G uc003ipf.1 + 12 1265 c.1201A>G c.(1201-1203)AGC>GGC p.S401G NM_005651 NP_005642 P48775 T23O_HUMAN tryptophan 2,3-dioxygenase 401 tryptophan catabolic process to kynurenine cytosol tryptophan 2,3-dioxygenase activity 0 all_hematologic(180;0.24) Renal(120;0.0854) KIRC - Kidney renal clear cell carcinoma(143;0.0455)|Kidney(143;0.0568)|COAD - Colon adenocarcinoma(41;0.141) L-Tryptophan(DB00150) CTCCTACTTCAGCAGTGATGA 0.353000 CCDC111 201973 broad.mit.edu 37 4 185593465 185593465 + Missense_Mutation SNP A A C TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chr4:185593465A>C uc003iwk.2 + 7 1128 c.695A>C c.(694-696)AAA>ACA p.K232T CCDC111_uc010isd.1_RNA|CCDC111_uc003iwj.2_Missense_Mutation_p.K232T|CCDC111_uc003iwl.2_Missense_Mutation_p.K232T|CCDC111_uc003iwm.2_Missense_Mutation_p.K103T|CCDC111_uc003iwn.2_Missense_Mutation_p.K57T NM_152683 NP_689896 Q96LW4 CC111_HUMAN coiled-coil domain containing 111 232 DNA replication, synthesis of RNA primer DNA primase activity central_nervous_system(1) 1 all_lung(41;9.65e-12)|Lung NSC(41;1.64e-11)|Colorectal(36;0.00531)|Hepatocellular(41;0.00932)|Renal(120;0.0246)|Prostate(90;0.0283)|all_hematologic(60;0.0749)|all_neural(102;0.131) all cancers(43;5.84e-27)|Epithelial(43;2.2e-23)|OV - Ovarian serous cystadenocarcinoma(60;4.28e-11)|STAD - Stomach adenocarcinoma(60;2.66e-05)|GBM - Glioblastoma multiforme(59;3.03e-05)|Colorectal(24;7.57e-05)|BRCA - Breast invasive adenocarcinoma(30;0.000249)|COAD - Colon adenocarcinoma(29;0.000502)|LUSC - Lung squamous cell carcinoma(40;0.00995)|READ - Rectum adenocarcinoma(43;0.173) TCTTTCAATAAAATGTTCACA 0.448000 IRX1 79192 broad.mit.edu 37 5 3599747 3599747 + Missense_Mutation SNP G G A TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chr5:3599747G>A uc003jde.2 + 2 737 c.685G>A c.(685-687)GAC>AAC p.D229N NM_024337 NP_077313 P78414 IRX1_HUMAN iroquois homeobox protein 1 229 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity ovary(1)|pancreas(1) 2 GGAAAGCATCGACATTGACAA 0.642000 FASTKD3 79072 broad.mit.edu 37 5 7868084 7868084 + Missense_Mutation SNP T T C TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chr5:7868084T>C uc003jeb.2 - 2 250 c.113A>G c.(112-114)AAG>AGG p.K38R FASTKD3_uc011cmp.1_5'UTR|FASTKD3_uc003jec.2_Intron|MTRR_uc010itn.1_5'Flank|MTRR_uc003jee.3_5'Flank|MTRR_uc003jed.2_5'Flank|MTRR_uc003jef.3_5'Flank|MTRR_uc003jeg.3_5'Flank|MTRR_uc010ito.2_5'Flank NM_024091 NP_076996 Q14CZ7 FAKD3_HUMAN FAST kinase domains 3 38 apoptosis|cellular respiration mitochondrion ATP binding|protein kinase activity ovary(2)|breast(1)|pancreas(1) 4 CAGACGCTCCTTGACTACCTT 0.403000 DNAH5 1767 broad.mit.edu 37 5 13769199 13769199 + Missense_Mutation SNP T T G TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chr5:13769199T>G uc003jfd.2 - 58 9809 c.9767A>C c.(9766-9768)AAG>ACG p.K3256T DNAH5_uc003jfc.2_5'UTR NM_001369 NP_001360 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 3256 Stalk (By similarity).|Potential. microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity ovary(14)|skin(13)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|pancreas(1) 31 Lung NSC(4;0.00476) TACCTCAGCCTTGACCTTTTC 0.428000 Kartagener_syndrome ANKH 56172 broad.mit.edu 37 5 14758683 14758683 + Missense_Mutation SNP A A C TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chr5:14758683A>C uc003jfm.3 - 3 669 c.338T>G c.(337-339)ATT>AGT p.I113S NM_054027 NP_473368 Q9HCJ1 ANKH_HUMAN progressive ankylosis protein 113 Extracellular (Potential). locomotory behavior|regulation of bone mineralization|skeletal system development integral to plasma membrane|outer membrane inorganic diphosphate transmembrane transporter activity|inorganic phosphate transmembrane transporter activity upper_aerodigestive_tract(1) 1 TTTATTGATAATGTAGTATCC 0.413000 PRDM9 56979 broad.mit.edu 37 5 23526783 23526783 + Missense_Mutation SNP G G A TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chr5:23526783G>A uc003jgo.2 + 11 1768 c.1586G>A c.(1585-1587)TGT>TAT p.C529Y NM_020227 NP_064612 Q9NQV7 PRDM9_HUMAN PR domain containing 9 529 C2H2-type 2; degenerate. meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nucleoplasm histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding ovary(3)|large_intestine(2)|pancreas(1) 6 TATGGAGAGTGTGGACAAGGT 0.468000 HNSCC(3;0.000094) PDZD2 23037 broad.mit.edu 37 5 32077580 32077580 + Missense_Mutation SNP A A C TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chr5:32077580A>C uc003jhl.2 + 19 3938 c.3550A>C c.(3550-3552)AAG>CAG p.K1184Q PDZD2_uc003jhm.2_Missense_Mutation_p.K1184Q|PDZD2_uc011cnx.1_Missense_Mutation_p.K1010Q NM_178140 NP_835260 O15018 PDZD2_HUMAN PDZ domain containing 2 1184 cell adhesion cell-cell junction|endoplasmic reticulum|extracellular region|nucleus central_nervous_system(4)|ovary(2)|skin(2)|large_intestine(1) 9 ATCTCTGGGAAAGCTGACCAC 0.498000 ADAMTS12 81792 broad.mit.edu 37 5 33616123 33616123 + Missense_Mutation SNP T T C TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chr5:33616123T>C uc003jia.1 - 15 2361 c.2198A>G c.(2197-2199)GAA>GGA p.E733G ADAMTS12_uc010iuq.1_Missense_Mutation_p.E648G NM_030955 NP_112217 P58397 ATS12_HUMAN ADAM metallopeptidase with thrombospondin type 1 733 Spacer 1. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding ovary(4)|skin(2)|upper_aerodigestive_tract(1)|lung(1)|kidney(1) 9 TCCCTCAATTTCCATCACTCT 0.438000 HNSCC(64;0.19) ADAMTS12 81792 broad.mit.edu 37 5 33891900 33891900 + Missense_Mutation SNP A A C TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chr5:33891900A>C uc003jia.1 - 1 225 c.62T>G c.(61-63)TTT>TGT p.F21C ADAMTS12_uc010iuq.1_Missense_Mutation_p.F21C|ADAMTS12_uc003jib.1_Missense_Mutation_p.F21C NM_030955 NP_112217 P58397 ATS12_HUMAN ADAM metallopeptidase with thrombospondin type 1 21 proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding ovary(4)|skin(2)|upper_aerodigestive_tract(1)|lung(1)|kidney(1) 9 AAGCGCCCCAAAGTTAAGGAG 0.488000 HNSCC(64;0.19) SPEF2 79925 broad.mit.edu 37 5 35654723 35654723 + Silent SNP A A G TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chr5:35654723A>G uc003jjo.2 + 7 984 c.873A>G c.(871-873)AAA>AAG p.K291K SPEF2_uc003jjn.1_Silent_p.K291K|SPEF2_uc003jjq.3_Silent_p.K291K NM_024867 NP_079143 Q9C093 SPEF2_HUMAN KPL2 protein isoform 1 291 nucleobase, nucleoside, nucleotide and nucleic acid metabolic process ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity skin(2)|ovary(1)|central_nervous_system(1) 4 all_lung(31;7.56e-05) Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) AGTACATTAAAAAAATCCAGA 0.398000 UGT3A1 133688 broad.mit.edu 37 5 35965721 35965721 + Missense_Mutation SNP A A T TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chr5:35965721A>T uc003jjv.1 - 4 767 c.610T>A c.(610-612)TTT>ATT p.F204I UGT3A1_uc003jjw.1_RNA|UGT3A1_uc011coq.1_Missense_Mutation_p.F204I|UGT3A1_uc011cor.1_Missense_Mutation_p.F170I|UGT3A1_uc003jjy.1_Missense_Mutation_p.F150I NM_152404 NP_689617 Q6NUS8 UD3A1_HUMAN UDP glycosyltransferase 3 family, polypeptide A1 204 Extracellular (Potential). integral to membrane glucuronosyltransferase activity ovary(2)|central_nervous_system(1) 3 all_lung(31;0.000197) Epithelial(62;0.107)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) AACATCAGAAAATTCTTCACT 0.473000 UGT3A2 167127 broad.mit.edu 37 5 36066860 36066860 + Missense_Mutation SNP C C T TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chr5:36066860C>T uc003jjz.1 - 1 125 c.32G>A c.(31-33)GGC>GAC p.G11D UGT3A2_uc011cos.1_Missense_Mutation_p.G11D|UGT3A2_uc011cot.1_5'UTR NM_174914 NP_777574 Q3SY77 UD3A2_HUMAN UDP glycosyltransferase 3 family, polypeptide A2 11 integral to membrane glucuronosyltransferase activity ovary(2)|skin(2)|large_intestine(1)|pancreas(1) 6 all_lung(31;0.000179) Lung(74;0.111)|Epithelial(62;0.113)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) GAGAAGGAAGCCCACTAGAAG 0.612000 C5orf42 65250 broad.mit.edu 37 5 37108536 37108536 + Silent SNP T T C TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chr5:37108536T>C uc011cpa.1 - 51 9507 c.9276A>G c.(9274-9276)AAA>AAG p.K3092K C5orf42_uc003jko.1_Silent_p.K123K|C5orf42_uc003jkp.1_RNA|C5orf42_uc011coy.1_Silent_p.K1610K|C5orf42_uc003jks.2_RNA|C5orf42_uc011coz.1_Silent_p.K2185K NM_023073 NP_075561 E9PH94 E9PH94_HUMAN hypothetical protein LOC65250 3092 ovary(4)|breast(2)|skin(1) 7 all_lung(31;0.000616) COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202) TTCCATGTTTTTTTGTATGCT 0.398000 C5orf34 375444 broad.mit.edu 37 5 43503793 43503793 + Missense_Mutation SNP C C T rs145557336 byFrequency TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chr5:43503793C>T uc003jnz.1 - 6 1319 c.1002G>A c.(1000-1002)ATG>ATA p.M334I NM_198566 NP_940968 Q96MH7 CE034_HUMAN hypothetical protein LOC375444 334 breast(1) 1 Lung NSC(6;2.07e-05) TGTACCAAACCATTTTCACTA 0.378000 SFRS12 140890 broad.mit.edu 37 5 65458386 65458386 + Missense_Mutation SNP T T G TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chr5:65458386T>G uc003juo.2 + 6 1033 c.373T>G c.(373-375)TTT>GTT p.F125V SFRS12_uc003jun.2_Missense_Mutation_p.F241V|SFRS12_uc010iwy.2_Missense_Mutation_p.F125V NM_139168 NP_631907 Q8WXA9 SREK1_HUMAN splicing factor, arginine/serine-rich 12 isoform 125 RRM. mRNA processing|RNA splicing spliceosomal complex nucleic acid binding|nucleotide binding|protein binding 0 Lung NSC(167;9.34e-06)|Prostate(74;0.00187)|Ovarian(174;0.0545)|Breast(144;0.0928)|Colorectal(97;0.234) Lung(70;0.00449) GGCCCTTGCTTTTAATGGAGT 0.373000 ANKRA2 57763 broad.mit.edu 37 5 72858699 72858699 + Missense_Mutation SNP G G T TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chr5:72858699G>T uc003kcu.1 - 2 654 c.8C>A c.(7-9)ACA>AAA p.T3K UTP15_uc003kcw.1_5'Flank|UTP15_uc011cso.1_5'Flank|UTP15_uc011csp.1_5'Flank|ANKRA2_uc003kcv.2_Missense_Mutation_p.T3K NM_023039 NP_075526 Q9H9E1 ANRA2_HUMAN ankyrin repeat, family A (RFXANK-like), 2 3 cytoskeleton|cytosol|membrane low-density lipoprotein particle binding 0 Lung NSC(167;0.0378)|Ovarian(174;0.0908) OV - Ovarian serous cystadenocarcinoma(47;3.71e-54) ATTTGTTGATGTATCCATGAT 0.393000 ENC1 8507 broad.mit.edu 37 5 73931059 73931059 + Missense_Mutation SNP C C T TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chr5:73931059C>T uc003kdc.3 - 2 2383 c.1252G>A c.(1252-1254)GAC>AAC p.D418N ENC1_uc011css.1_Missense_Mutation_p.D345N NM_003633 NP_003624 O14682 ENC1_HUMAN ectodermal-neural cortex (with BTB-like domain) 418 Kelch 3. nervous system development cytoplasm|cytoskeleton|nuclear matrix actin binding ovary(1)|pancreas(1)|skin(1) 3 all_lung(232;0.0154)|Lung NSC(167;0.0331)|Ovarian(174;0.0798) OV - Ovarian serous cystadenocarcinoma(47;1.45e-59) ATTGTGGGGTCATAATGTTCT 0.552000 ARSK 153642 broad.mit.edu 37 5 94927138 94927138 + Missense_Mutation SNP T T G TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chr5:94927138T>G uc003kld.2 + 6 1063 c.905T>G c.(904-906)CTT>CGT p.L302R ARSK_uc010jbg.2_Missense_Mutation_p.L143R|ARSK_uc011cum.1_RNA NM_198150 NP_937793 Q6UWY0 ARSK_HUMAN arylsulfatase K precursor 302 extracellular region arylsulfatase activity|metal ion binding pancreas(1) 1 all_cancers(142;3.38e-06)|all_epithelial(76;6.57e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.00473) all cancers(79;6.5e-16) CAATTAGATCTTCTTCAGAAA 0.348000 PPIP5K2 23262 broad.mit.edu 37 5 102494226 102494226 + Missense_Mutation SNP A A G TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chr5:102494226A>G uc003kod.3 + 16 2205 c.1686A>G c.(1684-1686)ATA>ATG p.I562M PPIP5K2_uc011cva.1_RNA|PPIP5K2_uc003koe.2_Missense_Mutation_p.I562M NM_015216 NP_056031 O43314 VIP2_HUMAN Histidine acid phosphatase domain containing 1 562 inositol metabolic process cytosol acid phosphatase activity|ATP binding|diphosphoinositol-pentakisphosphate kinase activity|inositol 1,3,4,5,6-pentakisphosphate kinase activity|inositol hexakisphosphate 5-kinase activity ovary(1)|skin(1) 2 ACCTCAAAATATATGCCTCTG 0.333000 PCDHGC4 56098 broad.mit.edu 37 5 140865158 140865158 + Missense_Mutation SNP T T G TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chr5:140865158T>G uc003lky.1 + 1 418 c.418T>G c.(418-420)TTG>GTG p.L140V PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc003lkh.1_Intron|PCDHGB6_uc003lkj.1_Intron|PCDHGA10_uc003lkl.1_Intron|PCDHGB7_uc003lkn.1_Intron|PCDHGA11_uc003lkp.1_Intron|PCDHGA11_uc003lkq.1_Intron|PCDHGA12_uc003lkt.1_Intron|PCDHGC3_uc003lkv.1_Intron|PCDHGC3_uc003lkw.1_Intron|PCDHGC4_uc011dbb.1_Missense_Mutation_p.L140V NM_018928 NP_061751 Q9Y5F7 PCDGL_HUMAN protocadherin gamma subfamily C, 4 isoform 1 140 Extracellular (Potential).|Cadherin 2. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(4) 4 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GCAGCTGGACTTGGAAATTGG 0.542000 NR3C1 2908 broad.mit.edu 37 5 142661596 142661596 + Missense_Mutation SNP T T G TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chr5:142661596T>G uc003lmz.2 - 9 2684 c.2192A>C c.(2191-2193)AAT>ACT p.N731T NR3C1_uc003lmy.2_Missense_Mutation_p.N732T|NR3C1_uc003lna.2_Intron|NR3C1_uc003lnb.2_Missense_Mutation_p.N731T|NR3C1_uc011dbk.1_Missense_Mutation_p.N334T|NR3C1_uc003lnc.2_Missense_Mutation_p.N731T|NR3C1_uc003lnd.2_Missense_Mutation_p.N731T|NR3C1_uc003lne.2_Missense_Mutation_p.N731T|NR3C1_uc003lnf.2_Missense_Mutation_p.N732T NM_000176 NP_000167 P04150 GCR_HUMAN glucocorticoid receptor isoform alpha 731 Steroid-binding. chromatin modification|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to protein stimulus|transcription from RNA polymerase II promoter mitochondrial matrix|nucleoplasm glucocorticoid receptor activity|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|zinc ion binding ovary(2) 2 Acute lymphoblastic leukemia(2;3.2e-05)|all_hematologic(2;0.000361) KIRC - Kidney renal clear cell carcinoma(527;0.00111)|Kidney(363;0.00176) Amcinonide(DB00288)|Betamethasone(DB00443)|Budesonide(DB01222)|Dexamethasone(DB01234)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluticasone Propionate(DB00588)|Hydrocortamate(DB00769)|Hydrocortisone(DB00741)|Loteprednol Etabonate(DB00873)|Methylprednisolone(DB00959)|Mifepristone(DB00834)|Mometasone(DB00764)|Prednisone(DB00635) GTTAAGGAGATTTTCAACCAC 0.358000 WWC1 23286 broad.mit.edu 37 5 167841353 167841353 + Silent SNP G G A TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chr5:167841353G>A uc003lzu.2 + 9 1035 c.942G>A c.(940-942)AGG>AGA p.R314R WWC1_uc003lzv.2_Silent_p.R314R|WWC1_uc011den.1_Silent_p.R314R|WWC1_uc003lzw.2_Silent_p.R113R NM_015238 NP_056053 Q8IX03 KIBRA_HUMAN WW and C2 domain containing 1 isoform 3 314 Potential. cell migration|positive regulation of MAPKKK cascade|regulation of hippo signaling cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus|perinuclear region of cytoplasm|ruffle membrane protein binding|transcription coactivator activity ovary(2)|skin(2)|breast(1) 5 Renal(175;0.000212)|Lung NSC(126;0.0875)|all_lung(126;0.166) Medulloblastoma(196;0.0399)|all_neural(177;0.0577) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) all cancers(165;0.0364)|Epithelial(171;0.0765)|OV - Ovarian serous cystadenocarcinoma(192;0.0918) TGGCCCCCAGGATCGCCAACC 0.547000 MAK 4117 broad.mit.edu 37 6 10804105 10804105 + Silent SNP A A G TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chr6:10804105A>G uc003mzl.2 - 6 740 c.511T>C c.(511-513)TTA>CTA p.L171L SYCP2L_uc011dim.1_Intron|TMEM14B_uc010jos.1_Intron|MAK_uc010jot.2_RNA|MAK_uc010jou.2_RNA|MAK_uc003mzm.2_Silent_p.L171L|MAK_uc010jov.1_RNA NM_005906 NP_005897 P20794 MAK_HUMAN male germ cell-associated kinase 171 Protein kinase. cell differentiation|multicellular organismal development|spermatogenesis ATP binding|cyclin-dependent protein kinase activity breast(2)|skin(1) 3 Breast(50;0.107)|Ovarian(93;0.107) all_hematologic(90;0.117) GATCTCAGTAAAACTTCAGGG 0.418000 SLC17A1 6568 broad.mit.edu 37 6 25799054 25799054 + Missense_Mutation SNP T T G TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chr6:25799054T>G uc003nfh.3 - 12 1479 c.1363A>C c.(1363-1365)ATT>CTT p.I455L SLC17A1_uc011djy.1_RNA|SLC17A1_uc010jqb.1_Missense_Mutation_p.I453L|SLC17A1_uc010jqc.1_Missense_Mutation_p.I399L NM_005074 NP_005065 Q14916 NPT1_HUMAN solute carrier family 17 (sodium phosphate), 455 sodium ion transport|urate metabolic process integral to plasma membrane|membrane fraction sodium-dependent phosphate transmembrane transporter activity|symporter activity ovary(3)|pancreas(1) 4 CAGTCCTGAATTTCTGCTGTA 0.433000 HIST1H2AC 8334 broad.mit.edu 37 6 26124540 26124540 + Missense_Mutation SNP C C T TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chr6:26124540C>T uc003ngm.2 + 1 168 c.80C>T c.(79-81)CCG>CTG p.P27L HIST1H2BC_uc003ngk.3_5'Flank|HIST1H2BC_uc003ngl.2_5'Flank|HIST1H2AC_uc003ngn.2_RNA|HIST1H2AC_uc003ngo.2_RNA|HIST1H2AC_uc003ngp.2_Missense_Mutation_p.P27L NM_003512 NP_003503 Q93077 H2A1C_HUMAN histone cluster 1, H2ac 27 nucleosome assembly nucleosome|nucleus DNA binding 0 CTCCAGTTCCCGGTGGGCCGA 0.612000 BTN3A1 11119 broad.mit.edu 37 6 26410259 26410259 + Silent SNP T T C TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chr6:26410259T>C uc003nhv.2 + 7 1331 c.963T>C c.(961-963)TCT>TCC p.S321S BTN3A1_uc011dkj.1_Silent_p.S321S|BTN3A1_uc011dkk.1_Silent_p.S269S|BTN3A1_uc010jqj.2_Silent_p.S321S NM_007048 NP_008979 O00481 BT3A1_HUMAN butyrophilin, subfamily 3, member A1 isoform a 321 Cytoplasmic (Potential). lipid metabolic process integral to membrane upper_aerodigestive_tract(1)|ovary(1) 2 AGTATGCATCTCGTAAGTGCC 0.468000 MAS1L 116511 broad.mit.edu 37 6 29455004 29455004 + Missense_Mutation SNP T T G TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chr6:29455004T>G uc011dlq.1 - 1 676 c.676A>C c.(676-678)AAG>CAG p.K226Q NM_052967 NP_443199 P35410 MAS1L_HUMAN MAS1 oncogene-like 226 Helical; Name=5; (Potential). cytoplasm|integral to membrane|nucleus|plasma membrane G-protein coupled receptor activity ovary(7)|lung(2) 9 CCAGAAAGCTTTAGAAATATG 0.443000 DHX16 8449 broad.mit.edu 37 6 30630751 30630751 + Silent SNP T T C TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chr6:30630751T>C uc003nqz.2 - 8 1577 c.1365A>G c.(1363-1365)AGA>AGG p.R455R DHX16_uc003nqy.2_5'Flank|DHX16_uc011dmo.1_Silent_p.R395R NM_003587 NP_003578 O60231 DHX16_HUMAN DEAH (Asp-Glu-Ala-His) box polypeptide 16 455 Helicase ATP-binding. mRNA processing|RNA splicing nucleus ATP binding|ATP-dependent helicase activity|nucleic acid binding|RNA helicase activity ovary(2)|kidney(2) 4 TGGCAGCCACTCTCCGGGGTT 0.527000 ITPR3 3710 broad.mit.edu 37 6 33632880 33632880 + Silent SNP A A G TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chr6:33632880A>G uc011drk.1 + 13 1518 c.1299A>G c.(1297-1299)TCA>TCG p.S433S NM_002224 NP_002215 Q14573 ITPR3_HUMAN inositol 1,4,5-triphosphate receptor, type 3 433 Cytoplasmic (Potential).|MIR 5. 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 CCATCGTGTCAGTGCCCGTGT 0.567000 FTSJD2 23070 broad.mit.edu 37 6 37430704 37430704 + Silent SNP C C T TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chr6:37430704C>T uc003ons.2 + 13 1678 c.1425C>T c.(1423-1425)TCC>TCT p.S475S NM_015050 NP_055865 Q8N1G2 MTR1_HUMAN FtsJ methyltransferase domain containing 2 475 mRNA capping cytoplasm|nucleus mRNA (nucleoside-2'-O-)-methyltransferase activity|nucleic acid binding ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1) 5 ACACGGATTCCGACGTCAACT 0.502000 DNAH8 1769 broad.mit.edu 37 6 38690577 38690577 + Translation_Start_Site SNP C C T TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chr6:38690577C>T uc003ooe.1 + 1 26 c.-574C>T c.(-576--572)CACGA>CATGA DNAH8_uc003ood.1_Translation_Start_Site 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 GCATTCCGCACGACGGGGGAT 0.483000 DNAH8 1769 broad.mit.edu 37 6 38950132 38950132 + Missense_Mutation SNP A A C TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chr6:38950132A>C uc003ooe.1 + 84 12794 c.12194A>C c.(12193-12195)AAA>ACA p.K4065T DNAH8_uc003oog.1_Missense_Mutation_p.K514T 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 GAGCGACGAAAATTTGGCCCC 0.343000 HSP90AB1 3326 broad.mit.edu 37 6 44220806 44220806 + Missense_Mutation SNP T T C TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chr6:44220806T>C uc003oxa.1 + 11 1840 c.1756T>C c.(1756-1758)TCT>CCT p.S586P HSP90AB1_uc011dvr.1_Missense_Mutation_p.S576P|HSP90AB1_uc003oxb.1_Missense_Mutation_p.S586P|HSP90AB1_uc011dvs.1_Missense_Mutation_p.S406P|HSP90AB1_uc003oxc.1_Missense_Mutation_p.S224P NM_007355 NP_031381 P08238 HS90B_HUMAN heat shock 90kDa protein 1, beta 586 axon guidance|negative regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of nitric oxide biosynthetic process|protein folding|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to unfolded protein cytosol|melanosome ATP binding|nitric-oxide synthase regulator activity|TPR domain binding|unfolded protein binding lung(3)|breast(1) 4 all_cancers(18;1.7e-05)|all_lung(25;0.00747)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273) Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536) TAGACTTGTGTCTTCACCTTG 0.473000 TCTE1 202500 broad.mit.edu 37 6 44254189 44254189 + Missense_Mutation SNP C C T TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chr6:44254189C>T uc003oxi.2 - 3 514 c.358G>A c.(358-360)GTG>ATG p.V120M SPATS1_uc003oxg.2_Intron|TMEM151B_uc003oxf.2_Intron NM_182539 NP_872345 Q5JU00 TCTE1_HUMAN t-complex-associated testis expressed 1 120 ovary(2)|skin(2) 4 Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273) Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536) TTGGCGGTCACAGCCAGTGGT 0.592000 TDRD6 221400 broad.mit.edu 37 6 46661814 46661814 + Missense_Mutation SNP A A T TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chr6:46661814A>T uc003oyj.2 + 1 5949 c.5949A>T c.(5947-5949)AAA>AAT p.K1983N TDRD6_uc010jze.2_Missense_Mutation_p.K1977N NM_001010870 NP_001010870 O60522 TDRD6_HUMAN tudor domain containing 6 1983 cell differentiation|multicellular organismal development|spermatogenesis chromatoid body nucleic acid binding breast(3)|ovary(2)|skin(1) 6 Lung(136;0.192) TAGAGTATAAAAACAGGGATG 0.393000 TDRD6 221400 broad.mit.edu 37 6 46663629 46663629 + Silent SNP A A C TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chr6:46663629A>C uc003oyj.2 + 2 6118 c.6118A>C c.(6118-6120)AGA>CGA p.R2040R TDRD6_uc010jze.2_Silent_p.R2034R NM_001010870 NP_001010870 O60522 TDRD6_HUMAN tudor domain containing 6 2040 Tudor 8. cell differentiation|multicellular organismal development|spermatogenesis chromatoid body nucleic acid binding breast(3)|ovary(2)|skin(1) 6 Lung(136;0.192) GTCAAGTCTAAGAAACACATG 0.363000 EFHC1 114327 broad.mit.edu 37 6 52288746 52288746 + Silent SNP A A G TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chr6:52288746A>G uc003pap.3 + 2 281 c.66A>G c.(64-66)AAA>AAG p.K22K EFHC1_uc011dwv.1_5'UTR|EFHC1_uc011dww.1_Silent_p.K3K NM_018100 NP_060570 Q5JVL4 EFHC1_HUMAN EF-hand domain (C-terminal) containing 1 22 axoneme|neuronal cell body calcium ion binding|protein C-terminus binding ovary(2)|skin(1) 3 Lung NSC(77;0.109) TTCTTCAGAAAACAGCCTTCC 0.378000 DST 667 broad.mit.edu 37 6 56434681 56434681 + Missense_Mutation SNP A A C TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chr6:56434681A>C uc003pdf.2 - 48 7522 c.7494T>G c.(7492-7494)GAT>GAG p.D2498E DST_uc003pcz.3_Missense_Mutation_p.D2320E|DST_uc011dxj.1_Missense_Mutation_p.D2349E|DST_uc011dxk.1_Missense_Mutation_p.D2360E|DST_uc003pcy.3_Missense_Mutation_p.D1994E NM_001144769 NP_001138241 Q03001 DYST_HUMAN dystonin isoform 2 4406 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) ATTTTCCTAAATCCTCTGCAC 0.313000 LCA5 167691 broad.mit.edu 37 6 80197201 80197201 + Missense_Mutation SNP A A C TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chr6:80197201A>C uc003pix.2 - 8 2049 c.1614T>G c.(1612-1614)AAT>AAG p.N538K LCA5_uc003piy.2_Missense_Mutation_p.N538K NM_001122769 NP_001116241 Q86VQ0 LCA5_HUMAN Leber congenital amaurosis 5 538 protein transport cilium axoneme|microtubule basal body protein binding 0 all_cancers(76;3.32e-05)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.0176) BRCA - Breast invasive adenocarcinoma(397;0.0657) CATTTCCTGAATTCTGACCTT 0.423000 GABRR1 2569 broad.mit.edu 37 6 89907959 89907959 + Missense_Mutation SNP A A C TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chr6:89907959A>C uc003pna.2 - 5 807 c.352T>G c.(352-354)TTT>GTT p.F118V GABRR1_uc011dzv.1_Missense_Mutation_p.F95V NM_002042 NP_002033 P24046 GBRR1_HUMAN gamma-aminobutyric acid (GABA) receptor, rho 1 118 Extracellular (Probable). gamma-aminobutyric acid signaling pathway|synaptic transmission cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity pancreas(1) 1 all_cancers(76;9.49e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.46e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;0.000114) BRCA - Breast invasive adenocarcinoma(108;0.00917) Picrotoxin(DB00466) GTCATCGTAAAGTCCTGGGAG 0.557000 ASCC3 10973 broad.mit.edu 37 6 101214491 101214491 + Missense_Mutation SNP C C T TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chr6:101214491C>T uc003pqk.2 - 10 2016 c.1687G>A c.(1687-1689)GAA>AAA p.E563K ASCC3_uc011eai.1_Missense_Mutation_p.E465K|ASCC3_uc003pql.2_Missense_Mutation_p.E563K NM_006828 NP_006819 Q8N3C0 HELC1_HUMAN activating signal cointegrator 1 complex subunit 563 Helicase ATP-binding 1. regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|microtubule cytoskeleton ATP binding|ATP-dependent helicase activity|nucleic acid binding ovary(5)|skin(1) 6 all_cancers(76;1.45e-07)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(87;0.00149)|Hepatocellular(1;0.0893)|Colorectal(196;0.13) BRCA - Breast invasive adenocarcinoma(108;0.0539)|all cancers(137;0.103)|GBM - Glioblastoma multiforme(226;0.199) CCAGTCAATTCTTTCACAATG 0.363000 GRIK2 2898 broad.mit.edu 37 6 102124587 102124587 + Missense_Mutation SNP G G T TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chr6:102124587G>T uc003pqp.3 + 4 880 c.631G>T c.(631-633)GCA>TCA p.A211S GRIK2_uc003pqn.2_Missense_Mutation_p.A211S|GRIK2_uc003pqo.3_Missense_Mutation_p.A211S|GRIK2_uc010kcw.2_Missense_Mutation_p.A211S NM_021956 NP_068775 Q13002 GRIK2_HUMAN glutamate receptor, ionotropic, kainate 2 211 Extracellular (Potential). glutamate signaling pathway|induction of programmed cell death in response to chemical stimulus|neuron apoptosis|positive regulation of synaptic transmission|regulation of short-term neuronal synaptic plasticity cell junction|postsynaptic membrane extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity ovary(2)|pancreas(1)|breast(1)|skin(1) 5 all_cancers(76;1.19e-07)|Acute lymphoblastic leukemia(125;6.17e-11)|all_hematologic(75;6.01e-08)|all_epithelial(87;0.0121)|Colorectal(196;0.14) all cancers(137;0.112)|BRCA - Breast invasive adenocarcinoma(108;0.124)|GBM - Glioblastoma multiforme(226;0.206) L-Glutamic Acid(DB00142) TACAAAGGATGCAAAACCCTT 0.368000 ZBTB24 9841 broad.mit.edu 37 6 109798005 109798005 + Missense_Mutation SNP T T C TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chr6:109798005T>C uc003ptl.1 - 3 1249 c.1081A>G c.(1081-1083)ACC>GCC p.T361A ZBTB24_uc011ear.1_RNA|ZBTB24_uc010kds.1_Intron|ZBTB24_uc010kdt.1_RNA NM_014797 NP_055612 O43167 ZBT24_HUMAN zinc finger and BTB domain containing 24 isoform 361 C2H2-type 3. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding ovary(1)|central_nervous_system(1)|pancreas(1) 3 all_cancers(87;0.000189)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00686)|Lung SC(18;0.0743)|Colorectal(196;0.101)|all_lung(197;0.149) Epithelial(106;0.0154)|all cancers(137;0.0216)|OV - Ovarian serous cystadenocarcinoma(136;0.0242)|BRCA - Breast invasive adenocarcinoma(108;0.059) GAGTGCTTGGTGGTCAGAGCC 0.602000 AKD1 221264 broad.mit.edu 37 6 109954220 109954220 + Missense_Mutation SNP A A C TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chr6:109954220A>C uc003ptn.2 - 12 1237 c.1160T>G c.(1159-1161)ATG>AGG p.M387R AKD1_uc003ptr.3_Missense_Mutation_p.M387R NM_001145128 NP_001138600 Q5TCS8 AKD1_HUMAN adenylate kinase domain containing 1 isoform 1 387 nucleobase, nucleoside, nucleotide and nucleic acid metabolic process ATP binding|nucleobase, nucleoside, nucleotide kinase activity|nucleoside-triphosphatase activity ovary(1) 1 TGGTCCTGGCATAGGTGGAAG 0.368000 SLC16A10 117247 broad.mit.edu 37 6 111543321 111543321 + Missense_Mutation SNP A A C TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chr6:111543321A>C uc003pus.2 + 6 1606 c.1431A>C c.(1429-1431)CAA>CAC p.Q477H SLC16A10_uc003put.2_Missense_Mutation_p.Q163H NM_018593 NP_061063 Q8TF71 MOT10_HUMAN solute carrier family 16, member 10 477 Extracellular (Potential). aromatic amino acid transport|cellular nitrogen compound metabolic process|ion transport basolateral plasma membrane|integral to membrane amino acid transmembrane transporter activity 0 all_cancers(87;0.00172)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|all_epithelial(87;0.0313)|Colorectal(196;0.0466) OV - Ovarian serous cystadenocarcinoma(136;0.0703)|Epithelial(106;0.12)|all cancers(137;0.132) GTAAGAAGCAAAGAGAGATCA 0.433000 RFX6 222546 broad.mit.edu 37 6 117245856 117245856 + Missense_Mutation SNP T T G TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chr6:117245856T>G uc003pxm.2 + 15 1643 c.1580T>G c.(1579-1581)CTT>CGT p.L527R NM_173560 NP_775831 Q8HWS3 RFX6_HUMAN regulatory factor X, 6 527 glucose homeostasis|pancreatic A cell differentiation|pancreatic D cell differentiation|pancreatic E cell differentiation|positive regulation of transcription, DNA-dependent|regulation of insulin secretion|transcription, DNA-dependent|type B pancreatic cell differentiation nucleus protein binding|transcription regulatory region DNA binding ovary(1)|pancreas(1)|skin(1) 3 ATTCGAATGCTTCTCGATGAA 0.388000 ROS1 6098 broad.mit.edu 37 6 117715842 117715842 + Missense_Mutation SNP A A C TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chr6:117715842A>C uc003pxp.1 - 9 1115 c.916T>G c.(916-918)TTA>GTA p.L306V ROS1_uc011ebi.1_RNA|GOPC_uc003pxq.1_Intron NM_002944 NP_002935 P08922 ROS_HUMAN proto-oncogene c-ros-1 protein precursor 306 Extracellular (Potential). transmembrane receptor protein tyrosine kinase signaling pathway membrane fraction|sodium:potassium-exchanging ATPase complex ATP binding|transmembrane receptor protein tyrosine kinase activity lung(8)|ovary(6)|central_nervous_system(3)|skin(3)|stomach(2)|breast(2)|large_intestine(1) 25 all_cancers(87;0.00846)|all_epithelial(87;0.0242) GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137) AAATGTTTTAAAGATCTCTTT 0.348000 T GOPC|ROS1 glioblastoma|NSCLC DCBLD1 285761 broad.mit.edu 37 6 117842710 117842710 + Silent SNP A A C TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chr6:117842710A>C uc003pxs.2 + 4 608 c.483A>C c.(481-483)CGA>CGC p.R161R GOPC_uc003pxq.1_Intron|DCBLD1_uc003pxr.1_Silent_p.R161R NM_173674 NP_775945 Q8N8Z6 DCBD1_HUMAN discoidin, CUB and LCCL domain containing 1 161 LCCL.|Extracellular (Potential). cell adhesion integral to membrane ovary(1) 1 all_cancers(87;0.171) GBM - Glioblastoma multiforme(226;0.0447)|OV - Ovarian serous cystadenocarcinoma(136;0.0921)|all cancers(137;0.125) GTTTGGAACGAGCTAGCCATT 0.318000 L3MBTL3 84456 broad.mit.edu 37 6 130407341 130407341 + Silent SNP C C T TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chr6:130407341C>T uc003qbt.2 + 16 1634 c.1464C>T c.(1462-1464)AAC>AAT p.N488N L3MBTL3_uc003qbu.2_Silent_p.N463N NM_032438 NP_115814 Q96JM7 LMBL3_HUMAN l(3)mbt-like 3 isoform a 488 MBT 3. chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ovary(5)|skin(1) 6 GBM - Glioblastoma multiforme(226;0.0266)|OV - Ovarian serous cystadenocarcinoma(155;0.154) ACAAAAGGAACCCTATGTTTA 0.393000 EPB41L2 2037 broad.mit.edu 37 6 131191232 131191232 + Missense_Mutation SNP T T A TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chr6:131191232T>A uc003qch.2 - 15 2260 c.2078A>T c.(2077-2079)AAG>ATG p.K693M EPB41L2_uc003qce.1_Missense_Mutation_p.K71M|EPB41L2_uc003qcf.1_Intron|EPB41L2_uc003qcg.1_Intron|EPB41L2_uc011eby.1_Intron|EPB41L2_uc003qci.2_Missense_Mutation_p.K623M|EPB41L2_uc010kfk.2_Intron|EPB41L2_uc010kfl.1_Missense_Mutation_p.K623M|EPB41L2_uc003qcd.1_5'Flank|EPB41L2_uc003qcj.1_Missense_Mutation_p.K90M NM_001431 NP_001422 O43491 E41L2_HUMAN erythrocyte membrane protein band 4.1-like 2 693 cortical actin cytoskeleton organization extrinsic to membrane|plasma membrane|spectrin actin binding|structural molecule activity central_nervous_system(1)|skin(1) 2 Breast(56;0.0639) OV - Ovarian serous cystadenocarcinoma(155;0.0271)|GBM - Glioblastoma multiforme(226;0.0355) TGCCCGCTTCTTCTCCTCCAC 0.403000 UTRN 7402 broad.mit.edu 37 6 145069618 145069618 + Missense_Mutation SNP G G A TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chr6:145069618G>A uc003qkt.2 + 54 8268 c.8176G>A c.(8176-8178)GAC>AAC p.D2726N NM_007124 NP_009055 P46939 UTRO_HUMAN utrophin 2726 Spectrin 20. muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane actin binding|calcium ion binding|zinc ion binding ovary(4)|pancreas(1) 5 Ovarian(120;0.218) OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213) CTTACTCATTGACTCGCTGCA 0.443000 ARID1B 57492 broad.mit.edu 37 6 157256693 157256693 + Missense_Mutation SNP A A G TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chr6:157256693A>G uc003qqn.2 + 4 1959 c.1807A>G c.(1807-1809)AGA>GGA p.R603G ARID1B_uc003qqo.2_Missense_Mutation_p.R616G|ARID1B_uc003qqp.2_Missense_Mutation_p.R603G|ARID1B_uc003qqq.1_Missense_Mutation_p.R31G NM_017519 NP_059989 Q8NFD5 ARI1B_HUMAN AT rich interactive domain 1B (SWI1-like) 661 chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent SWI/SNF complex DNA binding|protein binding|transcription coactivator activity ovary(1)|breast(1) 2 Breast(66;0.000162)|Ovarian(120;0.0265) OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05) ACAGCAAGAAAGACCATCAAG 0.373000 SUN1 23353 broad.mit.edu 37 7 892458 892458 + Missense_Mutation SNP T T G TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chr7:892458T>G uc011jvp.1 + 10 1001 c.922T>G c.(922-924)TTA>GTA p.L308V GET4_uc003sjj.1_RNA|SUN1_uc003sjf.2_Missense_Mutation_p.L225V|SUN1_uc011jvq.1_Missense_Mutation_p.L205V|SUN1_uc003sjg.2_Missense_Mutation_p.L213V|SUN1_uc011jvr.1_Missense_Mutation_p.L117V|SUN1_uc003sji.2_Missense_Mutation_p.L146V|SUN1_uc003sjk.2_5'UTR NM_001130965 NP_001124437 O94901 SUN1_HUMAN unc-84 homolog A isoform a 335 Helical. cytoskeletal anchoring at nuclear membrane|nuclear matrix anchoring at nuclear membrane integral to membrane|nuclear inner membrane|SUN-KASH complex protein binding 0 AGGTCTCTCCTTACGGGGCCA 0.493000 GLCCI1 113263 broad.mit.edu 37 7 8125957 8125957 + Missense_Mutation SNP A A G TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chr7:8125957A>G uc003srk.2 + 8 1992 c.1433A>G c.(1432-1434)AAG>AGG p.K478R NM_138426 NP_612435 Q86VQ1 GLCI1_HUMAN glucocorticoid induced transcript 1 478 0 Ovarian(82;0.0608) UCEC - Uterine corpus endometrioid carcinoma (126;0.206) CTTATGCTCAAGAACTCCCCT 0.493000 DNAH11 8701 broad.mit.edu 37 7 21779255 21779255 + Silent SNP G G A TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chr7:21779255G>A uc003svc.2 + 49 7930 c.7899G>A c.(7897-7899)CCG>CCA p.P2633P NM_003777 NP_003768 Q96DT5 DYH11_HUMAN dynein, axonemal, heavy chain 11 2633 AAA 3 (By similarity). microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity ovary(8)|large_intestine(3)|pancreas(3)|central_nervous_system(1) 15 GCATGAATCCGATGGTGGGCA 0.423000 Kartagener_syndrome CRHR2 1395 broad.mit.edu 37 7 30693214 30693214 + Silent SNP C C T rs143275254 TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chr7:30693214C>T uc003tbn.2 - 12 1342 c.1098G>A c.(1096-1098)GTG>GTA p.V366V CRHR2_uc010kvw.1_3'UTR|CRHR2_uc010kvx.1_Silent_p.V365V|CRHR2_uc010kvy.1_Silent_p.V202V|CRHR2_uc003tbo.2_Silent_p.V352V|CRHR2_uc003tbp.2_Silent_p.V393V NM_001883 NP_001874 Q13324 CRFR2_HUMAN corticotropin releasing hormone receptor 2 366 Cytoplasmic (Potential). G-protein signaling, coupled to cAMP nucleotide second messenger integral to plasma membrane corticotrophin-releasing factor receptor activity|protein binding lung(2)|ovary(1)|skin(1) 4 CGGCTGAGCGCACCTGTGGGG 0.647000 AMPH 273 broad.mit.edu 37 7 38530710 38530710 + Missense_Mutation SNP T T G TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chr7:38530710T>G uc003tgu.2 - 5 405 c.336A>C c.(334-336)AAA>AAC p.K112N AMPH_uc003tgv.2_Missense_Mutation_p.K112N NM_001635 NP_001626 P49418 AMPH_HUMAN amphiphysin isoform 1 112 BAR. endocytosis|synaptic transmission actin cytoskeleton|cell junction|synaptic vesicle membrane ovary(3)|liver(1)|skin(1) 5 CATCCACGAGTTTTTGATGGA 0.393000 C7orf36 57002 broad.mit.edu 37 7 39612132 39612132 + Missense_Mutation SNP A A C TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chr7:39612132A>C uc003thc.3 + 3 517 c.508A>C c.(508-510)AAC>CAC p.N170H NM_020192 NP_064577 Q9NRH1 CG036_HUMAN hypothetical protein LOC57002 170 0 GTTTAACAAAAACTGTAGCAA 0.383000 INHBA 3624 broad.mit.edu 37 7 41739626 41739626 + Missense_Mutation SNP A A G TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chr7:41739626A>G uc003thq.2 - 1 582 c.347T>C c.(346-348)CTT>CCT p.L116P LOC285954_uc003tht.3_Intron|INHBA_uc003thr.2_Missense_Mutation_p.L116P|LOC285954_uc003ths.2_Intron NM_002192 NP_002183 P08476 INHBA_HUMAN inhibin beta A precursor 116 cell cycle arrest|cell surface receptor linked signaling pathway|defense response|erythrocyte differentiation|eyelid development in camera-type eye|G1/S transition of mitotic cell cycle|growth|hair follicle development|hemoglobin biosynthetic process|hemopoietic progenitor cell differentiation|induction of apoptosis|male gonad development|negative regulation of B cell differentiation|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of follicle-stimulating hormone secretion|negative regulation of interferon-gamma biosynthetic process|negative regulation of macrophage differentiation|negative regulation of phosphorylation|nervous system development|odontogenesis|ovarian follicle development|palate development|positive regulation of erythrocyte differentiation|positive regulation of follicle-stimulating hormone secretion|positive regulation of ovulation|positive regulation of transcription from RNA polymerase II promoter|progesterone secretion|regulation of activin receptor signaling pathway activin A complex|inhibin A complex cytokine activity|follistatin binding|growth factor activity|hormone activity|identical protein binding|signal transducer activity lung(5)|ovary(1) 6 CTGCTCCATAAGTTCATTCAT 0.532000 TSP Lung(11;0.080) GLI3 2737 broad.mit.edu 37 7 42005486 42005486 + Missense_Mutation SNP G G A TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chr7:42005486G>A uc011kbh.1 - 15 3276 c.3185C>T c.(3184-3186)TCG>TTG p.S1062L GLI3_uc011kbg.1_Missense_Mutation_p.S1003L NM_000168 NP_000159 P10071 GLI3_HUMAN GLI-Kruppel family member GLI3 1062 negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis cilium|cytosol|nucleolus beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding lung(11)|ovary(3)|large_intestine(2)|central_nervous_system(1)|kidney(1)|pancreas(1) 19 ACAGGGGGACGAGTGGAAGTT 0.637000 Greig_Cephalopolysyndactyly|Pallister-Hall_syndrome HECW1 23072 broad.mit.edu 37 7 43490478 43490478 + Missense_Mutation SNP T T G TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chr7:43490478T>G uc003tid.1 + 12 3055 c.2450T>G c.(2449-2451)CTG>CGG p.L817R HECW1_uc011kbi.1_Intron NM_015052 NP_055867 Q76N89 HECW1_HUMAN NEDD4-like ubiquitin-protein ligase 1 817 protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasm|nucleus ubiquitin-protein ligase activity p.R817Q(1) ovary(8)|lung(6)|breast(4)|skin(4)|pancreas(1) 23 CTTCCTTCCCTGAGGCCTGAA 0.428000 HECW1 23072 broad.mit.edu 37 7 43581478 43581478 + Missense_Mutation SNP T T G TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chr7:43581478T>G uc003tid.1 + 26 4734 c.4129T>G c.(4129-4131)TTG>GTG p.L1377V HECW1_uc011kbi.1_Missense_Mutation_p.L1343V NM_015052 NP_055867 Q76N89 HECW1_HUMAN NEDD4-like ubiquitin-protein ligase 1 1377 HECT. protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasm|nucleus ubiquitin-protein ligase activity ovary(8)|lung(6)|breast(4)|skin(4)|pancreas(1) 23 GCCCTGTGATTTGAGTGACCT 0.423000 URGCP 55665 broad.mit.edu 37 7 43918314 43918314 + Missense_Mutation SNP A A G TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chr7:43918314A>G uc003tiw.2 - 6 805 c.748T>C c.(748-750)TTC>CTC p.F250L URGCP_uc003tiu.2_Missense_Mutation_p.F207L|URGCP_uc003tiv.2_Missense_Mutation_p.F175L|URGCP_uc003tix.2_Missense_Mutation_p.F241L|URGCP_uc003tiy.2_Missense_Mutation_p.F207L|URGCP_uc003tiz.2_Missense_Mutation_p.F207L|URGCP_uc011kbj.1_Missense_Mutation_p.F207L NM_001077663 NP_001071131 Q8TCY9 URGCP_HUMAN up-regulated gene 4 isoform 3 250 cell cycle centrosome|nucleus GTP binding ovary(2)|liver(1)|skin(1) 4 TCTTCCCGGAAGCTCCCCATG 0.617000 ADCY1 107 broad.mit.edu 37 7 45688316 45688316 + Silent SNP C C T TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chr7:45688316C>T uc003tne.3 + 5 1086 c.1068C>T c.(1066-1068)TGC>TGT p.C356C ADCY1_uc003tnd.2_Silent_p.C131C NM_021116 NP_066939 Q08828 ADCY1_HUMAN adenylate cyclase 1 356 Cytoplasmic (Potential). activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport integral to membrane|plasma membrane ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|calmodulin binding|metal ion binding ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1) 6 Adenosine(DB00640)|Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171) GCTACTACTGCGTGTCGGGCC 0.577000 ABCA13 154664 broad.mit.edu 37 7 48311482 48311482 + Missense_Mutation SNP T T G TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chr7:48311482T>G uc003toq.2 + 17 2244 c.2219T>G c.(2218-2220)TTT>TGT p.F740C ABCA13_uc010kyr.2_Missense_Mutation_p.F243C NM_152701 NP_689914 Q86UQ4 ABCAD_HUMAN ATP binding cassette, sub-family A (ABC1), 740 transport integral to membrane ATP binding|ATPase activity ovary(5)|central_nervous_system(4)|skin(1) 10 GTGGAATTTTTTGAGAAATTA 0.368000 ABCA13 154664 broad.mit.edu 37 7 48319313 48319313 + Missense_Mutation SNP C C A TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chr7:48319313C>A uc003toq.2 + 18 8547 c.8522C>A c.(8521-8523)ACA>AAA p.T2841K ABCA13_uc010kys.1_5'Flank NM_152701 NP_689914 Q86UQ4 ABCAD_HUMAN ATP binding cassette, sub-family A (ABC1), 2841 transport integral to membrane ATP binding|ATPase activity ovary(5)|central_nervous_system(4)|skin(1) 10 ATAACTTCCACAAGAACTTTG 0.353000 POM121L12 285877 broad.mit.edu 37 7 53104142 53104142 + Missense_Mutation SNP G G A TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chr7:53104142G>A uc003tpz.2 + 1 794 c.778G>A c.(778-780)GCC>ACC p.A260T NM_182595 NP_872401 Q8N7R1 P1L12_HUMAN POM121 membrane glycoprotein-like 12 260 0 GGTCCAGCCCGCCCCATCCGC 0.657000 CHCHD2 51142 broad.mit.edu 37 7 56170610 56170610 + Missense_Mutation SNP T T G TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chr7:56170610T>G uc003tsa.2 - 3 476 c.395A>C c.(394-396)AAG>ACG p.K132T PSPH_uc003trj.2_Intron NM_016139 NP_057223 Q9Y6H1 CHCH2_HUMAN coiled-coil-helix-coiled-coil-helix domain 132 CHCH. mitochondrion 0 Breast(14;0.214) Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099) CTCACAGAGCTTGATGTCACC 0.498000 GTF2IRD1 9569 broad.mit.edu 37 7 73950527 73950527 + Missense_Mutation SNP T T C TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chr7:73950527T>C uc003uaq.2 + 11 1724 c.1331T>C c.(1330-1332)CTG>CCG p.L444P GTF2IRD1_uc010lbq.2_Missense_Mutation_p.L476P|GTF2IRD1_uc003uap.2_Missense_Mutation_p.L444P|GTF2IRD1_uc003uar.1_Missense_Mutation_p.L444P NM_016328 NP_057412 Q9UHL9 GT2D1_HUMAN GTF2I repeat domain containing 1 isoform 1 444 nucleus DNA binding|protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity ovary(4) 4 ACCACGAAGCTGGAGCCAGCC 0.642000 NCF1 653361 broad.mit.edu 37 7 74193722 74193722 + Missense_Mutation SNP T T G TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chr7:74193722T>G uc003ubb.2 + 4 419 c.349T>G c.(349-351)TTC>GTC p.F117V NCF1_uc010lbs.1_Missense_Mutation_p.F117V|NCF1_uc011kfh.1_Intron NM_000265 NP_000256 P14598 NCF1_HUMAN neutrophil cytosolic factor 1 117 PX. cell communication|cellular defense response|innate immune response|protein targeting to membrane|respiratory burst|superoxide anion generation cytosol|NADPH oxidase complex|soluble fraction electron carrier activity|GTP binding|GTPase activity|phosphatidylinositol binding|SH3 domain binding|superoxide-generating NADPH oxidase activity skin(1) 1 CCTCCTCGACTTCTTCAAGGT 0.502000 AKAP9 10142 broad.mit.edu 37 7 91667822 91667822 + Missense_Mutation SNP A A C TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chr7:91667822A>C uc003ulg.2 + 17 4653 c.4428A>C c.(4426-4428)CAA>CAC p.Q1476H AKAP9_uc003ule.2_Missense_Mutation_p.Q1488H|AKAP9_uc003ulf.2_Missense_Mutation_p.Q1476H|AKAP9_uc003uli.2_Missense_Mutation_p.Q1101H NM_005751 NP_005742 Q99996 AKAP9_HUMAN A-kinase anchor protein 9 isoform 2 1488 G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport centrosome|cytosol|Golgi apparatus receptor binding breast(7)|ovary(6)|lung(5)|skin(3)|large_intestine(2)|prostate(2)|central_nervous_system(1) 26 all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249) STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225) CATCAAAGCAAGCACATGCTG 0.338000 T BRAF papillary thyroid AKAP9 10142 broad.mit.edu 37 7 91730334 91730334 + Missense_Mutation SNP A A C TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chr7:91730334A>C uc003ulg.2 + 45 11286 c.11061A>C c.(11059-11061)CAA>CAC p.Q3687H AKAP9_uc003ulf.2_Missense_Mutation_p.Q3679H|AKAP9_uc003uli.2_Missense_Mutation_p.Q3310H|AKAP9_uc003ulj.2_Missense_Mutation_p.Q1457H|AKAP9_uc003ull.2_Missense_Mutation_p.Q583H NM_005751 NP_005742 Q99996 AKAP9_HUMAN A-kinase anchor protein 9 isoform 2 3691 G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport centrosome|cytosol|Golgi apparatus receptor binding breast(7)|ovary(6)|lung(5)|skin(3)|large_intestine(2)|prostate(2)|central_nervous_system(1) 26 all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249) STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225) CTTTACTTCAAACTCTGAGCC 0.388000 T BRAF papillary thyroid SAMD9L 219285 broad.mit.edu 37 7 92764157 92764157 + Silent SNP A A G TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chr7:92764157A>G uc003umh.1 - 5 2344 c.1128T>C c.(1126-1128)TCT>TCC p.S376S SAMD9L_uc003umj.1_Silent_p.S376S|SAMD9L_uc003umi.1_Silent_p.S376S|SAMD9L_uc010lfb.1_Silent_p.S376S|SAMD9L_uc003umk.1_Silent_p.S376S|SAMD9L_uc010lfc.1_Silent_p.S376S|SAMD9L_uc010lfd.1_Silent_p.S376S|SAMD9L_uc011khx.1_Intron NM_152703 NP_689916 Q8IVG5 SAM9L_HUMAN sterile alpha motif domain containing 9-like 376 ovary(4) 4 all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989) STAD - Stomach adenocarcinoma(171;0.000302) CCTCTTTTCTAGATGCTACCA 0.423000 ARPC1B 10095 broad.mit.edu 37 7 98985726 98985726 + Silent SNP G G A TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chr7:98985726G>A uc003upz.2 + 4 323 c.234G>A c.(232-234)GTG>GTA p.V78V ARPC1A_uc011kit.1_RNA|ARPC1B_uc003uqa.2_Silent_p.V78V|ARPC1B_uc003uqb.2_Silent_p.V78V|ARPC1B_uc003uqc.2_Silent_p.V78V|ARPC1B_uc003uqd.2_5'Flank NM_005720 NP_005711 O15143 ARC1B_HUMAN actin related protein 2/3 complex subunit 1B 78 WD 2. cellular component movement|regulation of actin filament polymerization Arp2/3 protein complex|cytoplasm actin binding|structural constituent of cytoskeleton 0 all_cancers(62;3.49e-09)|all_epithelial(64;2.57e-10)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166) STAD - Stomach adenocarcinoma(171;0.215) ACGCCTACGTGTGGACGCTGA 0.642000 CYP3A43 64816 broad.mit.edu 37 7 99447302 99447302 + Missense_Mutation SNP T T G TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chr7:99447302T>G uc003urx.1 + 7 758 c.655T>G c.(655-657)TTT>GTT p.F219V CYP3A43_uc003ury.1_Missense_Mutation_p.F219V|CYP3A43_uc003urz.1_Missense_Mutation_p.F219V|CYP3A43_uc003usa.1_RNA|CYP3A43_uc010lgi.1_Intron|CYP3A43_uc003usb.1_Missense_Mutation_p.L81R NM_057095 NP_476436 Q9HB55 CP343_HUMAN cytochrome P450, family 3, subfamily A, 219 Missing (in allele CYP3A43*2). xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|electron carrier activity|heme binding ovary(1)|skin(1) 2 Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323) Cetirizine(DB00341)|Doxycycline(DB00254) TTTGGATCCCTTTTTACTCTT 0.219000 MCM7 4176 broad.mit.edu 37 7 99693469 99693469 + Missense_Mutation SNP G G A TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chr7:99693469G>A uc003usw.1 - 11 2033 c.1523C>T c.(1522-1524)CCT>CTT p.P508L MCM7_uc003usv.1_Missense_Mutation_p.P332L|MCM7_uc003usx.1_Missense_Mutation_p.P332L|uc003usy.1_5'Flank|MIR25_hsa-mir-25|MI0000082_5'Flank|uc003usz.1_5'Flank|MIR93_hsa-mir-93|MI0000095_5'Flank|uc003uta.1_5'Flank|MIR106B_hsa-mir-106b|MI0000734_5'Flank NM_005916 NP_005907 P33993 MCM7_HUMAN minichromosome maintenance complex component 7 508 MCM. cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|regulation of phosphorylation|response to DNA damage stimulus|S phase of mitotic cell cycle chromatin|MCM complex ATP binding|protein binding 0 Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439) Atorvastatin(DB01076) CAGTGCAGCAGGTAGCTGTAT 0.607000 LAMB4 22798 broad.mit.edu 37 7 107748104 107748104 + Missense_Mutation SNP G G A TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chr7:107748104G>A uc010ljo.1 - 6 647 c.563C>T c.(562-564)TCG>TTG p.S188L LAMB4_uc003vey.2_Missense_Mutation_p.S188L NM_007356 NP_031382 A4D0S4 LAMB4_HUMAN laminin, beta 4 precursor 188 Laminin N-terminal. cell adhesion basement membrane ovary(4)|breast(2)|large_intestine(1)|skin(1) 8 TTCAATATCCGAGTATTTGGA 0.348000 CFTR 1080 broad.mit.edu 37 7 117235072 117235072 + Missense_Mutation SNP T T G TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chr7:117235072T>G uc003vjd.2 + 15 2711 c.2579T>G c.(2578-2580)ATT>AGT p.I860S CFTR_uc011knq.1_Missense_Mutation_p.I266S NM_000492 NP_000483 P13569 CFTR_HUMAN cystic fibrosis transmembrane conductance 860 Helical; Name=7; (Potential).|ABC transmembrane type-1 2. respiratory gaseous exchange apical plasma membrane|basolateral plasma membrane|chloride channel complex|early endosome membrane ATP binding|ATP-binding and phosphorylation-dependent chloride channel activity|channel-conductance-controlling ATPase activity|chloride channel regulator activity|enzyme binding|PDZ domain binding central_nervous_system(2)|skin(2)|ovary(1) 5 Lung NSC(10;0.00148)|all_lung(10;0.00171) STAD - Stomach adenocarcinoma(10;0.000534) Bumetanide(DB00887)|Glibenclamide(DB01016) AAGAGCTTAATTTTTGTGCTA 0.338000 Cystic_Fibrosis CFTR 1080 broad.mit.edu 37 7 117243768 117243768 + Missense_Mutation SNP T T G TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chr7:117243768T>G uc003vjd.2 + 17 2972 c.2840T>G c.(2839-2841)ATT>AGT p.I947S CFTR_uc011knq.1_Missense_Mutation_p.I353S NM_000492 NP_000483 P13569 CFTR_HUMAN cystic fibrosis transmembrane conductance 947 Cytoplasmic (Potential).|ABC transmembrane type-1 2. respiratory gaseous exchange apical plasma membrane|basolateral plasma membrane|chloride channel complex|early endosome membrane ATP binding|ATP-binding and phosphorylation-dependent chloride channel activity|channel-conductance-controlling ATPase activity|chloride channel regulator activity|enzyme binding|PDZ domain binding central_nervous_system(2)|skin(2)|ovary(1) 5 Lung NSC(10;0.00148)|all_lung(10;0.00171) STAD - Stomach adenocarcinoma(10;0.000534) Bumetanide(DB00887)|Glibenclamide(DB01016) GTGTCGAAAATTTTACACCAC 0.403000 Cystic_Fibrosis WNT16 51384 broad.mit.edu 37 7 120965524 120965524 + Missense_Mutation SNP A A G TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chr7:120965524A>G uc003vjv.2 + 1 104 c.55A>G c.(55-57)ACC>GCC p.T19A NM_016087 NP_057171 Q9UBV4 WNT16_HUMAN wingless-type MMTV integration site family, Error:Variant_position_missing_in_Q9UBV4_after_alignment anterior/posterior pattern formation|axis specification|axonogenesis|canonical Wnt receptor signaling pathway|keratinocyte differentiation|keratinocyte proliferation|negative regulation of cell death|optic cup formation involved in camera-type eye development|oxidative stress-induced premature senescence|positive regulation of gene expression|positive regulation of JNK cascade|positive regulation of phosphatidylinositol 3-kinase cascade|replicative senescence|Wnt receptor signaling pathway, calcium modulating pathway cytoplasm|extracellular space|plasma membrane|proteinaceous extracellular matrix frizzled binding|signal transducer activity lung(2)|ovary(2)|large_intestine(1) 5 all_neural(327;0.117) TTCTCAAAAGACCTCCCTATG 0.448000 LMOD2 442721 broad.mit.edu 37 7 123302476 123302476 + Missense_Mutation SNP T T C TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chr7:123302476T>C uc003vky.2 + 2 993 c.836T>C c.(835-837)TTC>TCC p.F279S NM_207163 NP_997046 Q6P5Q4 LMOD2_HUMAN leiomodin 2 (cardiac) 279 cytoskeleton actin binding|tropomyosin binding 0 GAGTCCAACTTCATAACGGGA 0.547000 PAX4 5078 broad.mit.edu 37 7 127253104 127253104 + Silent SNP C C T TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chr7:127253104C>T uc010lld.1 - 6 869 c.663G>A c.(661-663)GAG>GAA p.E221E PAX4_uc003vmf.2_Silent_p.E219E|PAX4_uc003vmg.1_Silent_p.E221E|PAX4_uc003vmh.2_Silent_p.E219E NM_006193 NP_006184 O43316 PAX4_HUMAN paired box 4 229 Homeobox. cell differentiation|endocrine pancreas development|organ morphogenesis nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity ovary(1) 1 ACTTGAGCTTCTCTTGCCGAC 0.448000 PLXNA4 91584 broad.mit.edu 37 7 131815261 131815261 + Missense_Mutation SNP T T G TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chr7:131815261T>G uc003vra.3 - 32 5891 c.5662A>C c.(5662-5664)ACC>CCC p.T1888P PLXNA4_uc003vqz.3_Missense_Mutation_p.T173P NM_020911 NP_065962 Q9HCM2 PLXA4_HUMAN plexin A4 isoform 1 1888 Cytoplasmic (Potential). integral to membrane|intracellular|plasma membrane ovary(1) 1 CTCATGAGGGTTATGACTTGT 0.532000 ATP6V0A4 50617 broad.mit.edu 37 7 138455901 138455901 + Missense_Mutation SNP T T C TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chr7:138455901T>C uc003vuf.2 - 2 330 c.92A>G c.(91-93)GAG>GGG p.E31G ATP6V0A4_uc003vug.2_Missense_Mutation_p.E31G|ATP6V0A4_uc003vuh.2_Missense_Mutation_p.E31G NM_130841 NP_570856 Q9HBG4 VPP4_HUMAN ATPase, H+ transporting, lysosomal V0 subunit 31 Cytoplasmic (Potential). cellular iron ion homeostasis|excretion|insulin receptor signaling pathway|ossification|regulation of pH|sensory perception of sound|transferrin transport apical plasma membrane|brush border membrane|endosome membrane|integral to membrane|proton-transporting two-sector ATPase complex, proton-transporting domain ATPase binding|hydrogen ion transmembrane transporter activity pancreas(1) 1 CAATCCGAGCTCTCCGAGCTC 0.478000 LUC7L2 51631 broad.mit.edu 37 7 139092001 139092001 + Missense_Mutation SNP G G A TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chr7:139092001G>A uc003vux.2 + 6 966 c.592G>A c.(592-594)GGA>AGA p.G198R LUC7L2_uc011kqs.1_Missense_Mutation_p.G195R|LUC7L2_uc011kqt.1_Missense_Mutation_p.G264R|LUC7L2_uc003vuy.2_Missense_Mutation_p.G197R|LUC7L2_uc003vuz.1_Missense_Mutation_p.G145R|LUC7L2_uc003vva.2_Missense_Mutation_p.G145R NM_016019 NP_057103 Q9Y383 LC7L2_HUMAN LUC7-like 2 198 C2H2-type; atypical. enzyme binding|metal ion binding 0 Melanoma(164;0.242) TGCCTATTTAGGACTTCATGA 0.398000 BRAF 673 broad.mit.edu 37 7 140453134 140453134 + Missense_Mutation SNP T T C rs121913377 TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chr7:140453134T>C uc003vwc.3 - 15 1862 c.1801A>G c.(1801-1803)AAA>GAA p.K601E NM_004333 NP_004324 P15056 BRAF_HUMAN B-Raf 601 Protein kinase. K -> Q (in CFC syndrome).|K -> E (in colorectal cancer). activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission cytosol|nucleus|plasma membrane ATP binding|metal ion binding p.K601E(47)|p.V600_K601>E(8)|p.K601N(7)|p.K601del(4)|p.K601Q(3)|p.T599_R603>I(2)|p.V600_W604del(1)|p.K601K(1)|p.K601L(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.K601I(1) KIAA1549/BRAF(229)|AKAP9_ENST00000356239/BRAF(10)|AGTRAP/BRAF(2)|FCHSD1/BRAF(2)|SLC45A3/BRAF(2) thyroid(8166)|large_intestine(5052)|skin(3798)|NS(368)|central_nervous_system(284)|ovary(236)|lung(78)|eye(53)|prostate(44)|endometrium(30)|biliary_tract(28)|soft_tissue(27)|haematopoietic_and_lymphoid_tissue(22)|breast(18)|upper_aerodigestive_tract(13)|stomach(13)|pancreas(10)|small_intestine(10)|testis(7)|bone(6)|cervix(5)|genital_tract(4)|oesophagus(3)|urinary_tract(3)|adrenal_gland(3)|gastrointestinal_tract_(site_indeterminate)(2)|liver(2)|meninges(1)|kidney(1)|autonomic_ganglia(1)|pituitary(1)|salivary_gland(1) 18290 Melanoma(164;0.00956) Sorafenib(DB00398) CATCGAGATTTCACTGTAGCT 0.368000 61 Mis|T|O AKAP9|KIAA1549 melanoma|colorectal|papillary thyroid|borderline ov|Non small-cell lung cancer (NSCLC)|cholangiocarcinoma|pilocytic astrocytoma Cardio-facio-cutaneous syndrome Cardiofaciocutaneous_syndrome TAS2R5 54429 broad.mit.edu 37 7 141491039 141491039 + Missense_Mutation SNP C C T TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chr7:141491039C>T uc003vwr.1 + 1 1023 c.878C>T c.(877-879)GCT>GTT p.A293V NM_018980 NP_061853 Q9NYW4 TA2R5_HUMAN taste receptor T2R5 293 Cytoplasmic (Potential). chemosensory behavior|sensory perception of taste taste receptor activity 0 Melanoma(164;0.0171) ACAGTGTGTGCTCGGAGATGC 0.493000 PRSS1 5644 broad.mit.edu 37 7 142460771 142460771 + Missense_Mutation SNP C C T TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chr7:142460771C>T uc003wak.2 + 5 661 c.644C>T c.(643-645)TCC>TTC p.S215F uc011krr.1_Intron|uc003vzp.2_Intron|uc011ksh.1_Intron|uc011ksi.1_Intron|uc003vzw.1_Intron|uc010loj.1_Intron|uc003wad.2_Intron|uc003wag.1_Intron|TRY6_uc011ksn.1_Intron|PRSS1_uc003wam.2_Missense_Mutation_p.S155F NM_002769 NP_002760 P07477 TRY1_HUMAN protease, serine, 1 preproprotein 215 Peptidase S1. digestion|proteolysis extracellular space metal ion binding|protein binding|serine-type endopeptidase activity large_intestine(1)|central_nervous_system(1) 2 Melanoma(164;0.047) all_cancers(3;2.14e-49)|Acute lymphoblastic leukemia(3;7.3e-185)|all_hematologic(3;1.1e-165) all cancers(2;0.000126)|Colorectal(2;0.000157)|Epithelial(2;0.000191)|COAD - Colon adenocarcinoma(2;0.00189) GGAGTTGTCTCCTGGGGTGAT 0.502000 Hereditary_Pancreatitis ZNF425 155054 broad.mit.edu 37 7 148801048 148801048 + Missense_Mutation SNP A A T TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chr7:148801048A>T uc003wfj.2 - 4 1988 c.1915T>A c.(1915-1917)TCT>ACT p.S639T NM_001001661 NP_001001661 Q6IV72 ZN425_HUMAN zinc finger protein 425 639 C2H2-type 16. negative regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|zinc ion binding breast(2)|ovary(1) 3 Melanoma(164;0.15) OV - Ovarian serous cystadenocarcinoma(82;0.00463) ATCACACAAGAGAATGGCTTT 0.537000 MLL3 58508 broad.mit.edu 37 7 151860106 151860106 + Missense_Mutation SNP G G A TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chr7:151860106G>A uc003wla.2 - 43 10775 c.10556C>T c.(10555-10557)TCA>TTA p.S3519L MLL3_uc003wkz.2_Missense_Mutation_p.S2580L|MLL3_uc003wky.2_Missense_Mutation_p.S1028L NM_170606 NP_733751 Q8NEZ4 MLL3_HUMAN myeloid/lymphoid or mixed-lineage leukemia 3 3519 intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent DNA binding|protein binding|zinc ion binding large_intestine(27)|pancreas(13)|ovary(9)|central_nervous_system(8)|breast(3)|upper_aerodigestive_tract(1)|urinary_tract(1)|skin(1) 63 all_neural(206;0.187) all_hematologic(28;0.0592)|Prostate(32;0.0906) OV - Ovarian serous cystadenocarcinoma(82;0.00715) UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462) GATTGATGGTGAATCAGGAAC 0.468000 N medulloblastoma MYOM2 9172 broad.mit.edu 37 8 2063895 2063895 + Missense_Mutation SNP T T A TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chr8:2063895T>A uc003wpx.3 + 26 3462 c.3324T>A c.(3322-3324)GAT>GAA p.D1108E MYOM2_uc011kwi.1_Missense_Mutation_p.D533E NM_003970 NP_003961 P54296 MYOM2_HUMAN myomesin 2 1108 muscle contraction myosin filament structural constituent of muscle ovary(4)|central_nervous_system(1)|skin(1) 6 Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217) BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179) TTATTGGAGATGGTATGCTAT 0.343000 XKR6 286046 broad.mit.edu 37 8 10755462 10755462 + Nonstop_Mutation SNP T T G TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chr8:10755462T>G uc003wtk.1 - 3 1953 c.1926A>C c.(1924-1926)TAA>TAC p.*642Y NM_173683 NP_775954 Q5GH73 XKR6_HUMAN XK, Kell blood group complex subunit-related 642 integral to membrane ovary(1)|skin(1) 2 Lung(29;0.0407)|COAD - Colon adenocarcinoma(149;0.0555) CAAGATGCTCTTAGAGTGAAG 0.448000 FBXO16 157574 broad.mit.edu 37 8 28340913 28340913 + Silent SNP T T A TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chr8:28340913T>A uc003xgu.2 - 2 149 c.51A>T c.(49-51)ACA>ACT p.T17T ZNF395_uc003xgt.2_5'UTR|FBXO16_uc003xgv.2_Silent_p.T16T|FBXO16_uc003xgw.2_Silent_p.T16T NM_172366 NP_758954 Q8IX29 FBX16_HUMAN F-box only protein 16 17 ovary(1) 1 Ovarian(32;2.06e-05) KIRC - Kidney renal clear cell carcinoma(542;0.121)|Kidney(114;0.144)|Colorectal(74;0.249) TGCTCATCTTTGTCTGCATTT 0.398000 WHSC1L1 54904 broad.mit.edu 37 8 38146168 38146168 + Missense_Mutation SNP T T C TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chr8:38146168T>C uc003xli.2 - 19 3856 c.3338A>G c.(3337-3339)GAG>GGG p.E1113G WHSC1L1_uc011lbm.1_Missense_Mutation_p.E1113G|WHSC1L1_uc010lwe.2_Missense_Mutation_p.E1064G NM_023034 NP_075447 Q9BZ95 NSD3_HUMAN WHSC1L1 protein isoform long 1113 AWS. cell differentiation|cell growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome histone-lysine N-methyltransferase activity|zinc ion binding breast(1) 1 Colorectal(12;0.000442)|Esophageal squamous(3;0.0725) all_lung(54;0.00787)|Lung NSC(58;0.0295)|Hepatocellular(245;0.065) Epithelial(3;3.12e-43)|all cancers(3;1.72e-38)|BRCA - Breast invasive adenocarcinoma(5;2.84e-27)|LUSC - Lung squamous cell carcinoma(2;2.79e-25)|Lung(2;5.03e-23)|COAD - Colon adenocarcinoma(9;0.0511) GTTCAGGCACTCCGATTCCAA 0.498000 T NUP98 AML KCNB2 9312 broad.mit.edu 37 8 73848915 73848915 + Missense_Mutation SNP G G A TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chr8:73848915G>A uc003xzb.2 + 3 1913 c.1325G>A c.(1324-1326)CGG>CAG p.R442Q NM_004770 NP_004761 Q92953 KCNB2_HUMAN potassium voltage-gated channel, Shab-related 442 Cytoplasmic (Potential). regulation of smooth muscle contraction voltage-gated potassium channel complex delayed rectifier potassium channel activity|protein binding skin(3)|large_intestine(1)|pancreas(1)|ovary(1)|central_nervous_system(1) 7 Breast(64;0.137) Epithelial(68;0.105) GCTCTTGAGCGGGCCAAAAGG 0.448000 MATN2 4147 broad.mit.edu 37 8 99030226 99030226 + Silent SNP A A G TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chr8:99030226A>G uc003yic.2 + 12 1932 c.1701A>G c.(1699-1701)AAA>AAG p.K567K MATN2_uc010mbh.1_Silent_p.K526K|MATN2_uc003yid.2_Silent_p.K567K|MATN2_uc003yie.1_Silent_p.K567K|MATN2_uc010mbi.1_Silent_p.K400K|MATN2_uc010mbj.1_Silent_p.K66K NM_002380 NP_002371 O00339 MATN2_HUMAN matrilin 2 isoform a precursor 567 EGF-like 9. proteinaceous extracellular matrix calcium ion binding ovary(2) 2 Breast(36;1.43e-06) OV - Ovarian serous cystadenocarcinoma(57;0.244) CTTCAGGGAAAGATGTCTGCC 0.483000 RIMS2 9699 broad.mit.edu 37 8 105026758 105026758 + Silent SNP C C T TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chr8:105026758C>T uc003yls.2 + 17 2710 c.2469C>T c.(2467-2469)GTC>GTT p.V823V RIMS2_uc003ylp.2_Silent_p.V1083V|RIMS2_uc003ylw.2_Silent_p.V897V|RIMS2_uc003ylq.2_Silent_p.V897V|RIMS2_uc003ylr.2_Silent_p.V922V NM_014677 NP_055492 Q9UQ26 RIMS2_HUMAN regulating synaptic membrane exocytosis 2 1145 intracellular protein transport cell junction|presynaptic membrane metal ion binding|Rab GTPase binding ovary(6)|lung(2)|breast(2)|skin(2)|large_intestine(1)|central_nervous_system(1)|pancreas(1) 15 OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229) CTGGGTCTGTCCAGACAAGCC 0.413000 HNSCC(12;0.0054) TM7SF4 81501 broad.mit.edu 37 8 105361784 105361784 + Missense_Mutation SNP A A G TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chr8:105361784A>G uc003ylx.1 + 2 1053 c.1004A>G c.(1003-1005)GAG>GGG p.E335G NM_030788 NP_110415 Q9H295 TM7S4_HUMAN dendritic cell-specific transmembrane protein 335 osteoclast differentiation cell surface|integral to membrane|plasma membrane pancreas(2)|large_intestine(1)|ovary(1) 4 OV - Ovarian serous cystadenocarcinoma(57;1.61e-06)|STAD - Stomach adenocarcinoma(118;0.229) CCAGGGTTTGAGGTTCACTTG 0.363000 EBAG9 9166 broad.mit.edu 37 8 110569190 110569190 + Missense_Mutation SNP G G T TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chr8:110569190G>T uc003ynf.2 + 5 583 c.348G>T c.(346-348)TTG>TTT p.L116F EBAG9_uc010mcn.1_RNA|EBAG9_uc003yng.2_Missense_Mutation_p.L116F NM_198120 NP_936056 O00559 RCAS1_HUMAN estrogen receptor binding site associated 116 Cytoplasmic (Potential). apoptosis|regulation of cell growth focal adhesion|Golgi membrane|integral to membrane|soluble fraction apoptotic protease activator activity 0 OV - Ovarian serous cystadenocarcinoma(57;1.39e-14) GAGAACCATTGAATTTTGGCA 0.328000 KLHL38 340359 broad.mit.edu 37 8 124664441 124664441 + Silent SNP C C A TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chr8:124664441C>A uc003yqs.1 - 1 750 c.726G>T c.(724-726)CTG>CTT p.L242L NM_001081675 NP_001075144 Q2WGJ6 KLH38_HUMAN kelch-like 38 242 0 GCGAGGACTGCAGGAGGGCAT 0.557000 FAM91A1 157769 broad.mit.edu 37 8 124801950 124801950 + Missense_Mutation SNP T T G TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chr8:124801950T>G uc003yqv.2 + 15 1437 c.1376T>G c.(1375-1377)GTT>GGT p.V459G FAM91A1_uc011lik.1_Missense_Mutation_p.V459G|FAM91A1_uc011lil.1_Missense_Mutation_p.V217G NM_144963 NP_659400 Q658Y4 F91A1_HUMAN hypothetical protein LOC157769 459 ovary(1)|central_nervous_system(1) 2 Lung NSC(37;8.76e-13)|Ovarian(258;0.00744)|all_neural(195;0.0741) STAD - Stomach adenocarcinoma(47;0.00192) AAAGATCTAGTTGCGCAAACT 0.348000 FER1L6 654463 broad.mit.edu 37 8 124985675 124985675 + Missense_Mutation SNP T T C TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chr8:124985675T>C uc003yqw.2 + 7 655 c.449T>C c.(448-450)GTC>GCC p.V150A NM_001039112 NP_001034201 Q2WGJ9 FR1L6_HUMAN fer-1-like 6 150 C2 1.|Cytoplasmic (Potential). integral to membrane ovary(5)|skin(5)|central_nervous_system(1) 11 Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741) STAD - Stomach adenocarcinoma(47;0.00186) TCTCCTCAGGTCTTTCACCAC 0.493000 BAI1 575 broad.mit.edu 37 8 143623495 143623495 + Silent SNP C C T TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chr8:143623495C>T uc003ywm.2 + 27 4083 c.3900C>T c.(3898-3900)CCC>CCT p.P1300P NM_001702 NP_001693 O14514 BAI1_HUMAN brain-specific angiogenesis inhibitor 1 1300 Cytoplasmic (Potential). axonogenesis|cell adhesion|negative regulation of angiogenesis|negative regulation of cell proliferation|neuropeptide signaling pathway|peripheral nervous system development cell-cell junction|integral to plasma membrane G-protein coupled receptor activity|protein binding lung(3)|ovary(2)|breast(1)|central_nervous_system(1)|pancreas(1) 8 all_cancers(97;2.84e-12)|all_epithelial(106;5.91e-09)|Lung NSC(106;0.000322)|all_lung(105;0.000616)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155) GGCCCCTGCCCGACTTCCCCA 0.647000 PTPRD 5789 broad.mit.edu 37 9 8521506 8521506 + Missense_Mutation SNP A A T TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chr9:8521506A>T uc003zkk.2 - 19 1443 c.732T>A c.(730-732)AAT>AAA p.N244K PTPRD_uc003zkp.2_Missense_Mutation_p.N244K|PTPRD_uc003zkq.2_Missense_Mutation_p.N244K|PTPRD_uc003zkr.2_Missense_Mutation_p.N238K|PTPRD_uc003zks.2_Missense_Mutation_p.N234K|PTPRD_uc003zkl.2_Missense_Mutation_p.N244K|PTPRD_uc003zkm.2_Missense_Mutation_p.N231K|PTPRD_uc003zkn.2_Missense_Mutation_p.N244K|PTPRD_uc003zko.2_Missense_Mutation_p.N241K NM_002839 NP_002830 P23468 PTPRD_HUMAN protein tyrosine phosphatase, receptor type, D 244 Extracellular (Potential).|Ig-like C2-type 3. transmembrane receptor protein tyrosine phosphatase signaling pathway integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity lung(14)|large_intestine(3)|ovary(2)|breast(2)|urinary_tract(1) 22 all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824) all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119) TGATTTCATGATTAGTGGGTG 0.453000 TSP Lung(15;0.13) NFIB 4781 broad.mit.edu 37 9 14307364 14307364 + Silent SNP G G A TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chr9:14307364G>A uc003zle.2 - 2 621 c.186C>T c.(184-186)CTC>CTT p.L62L NFIB_uc003zlf.2_Silent_p.L62L|NFIB_uc011lmo.1_Silent_p.L62L NM_005596 NP_005587 O00712 NFIB_HUMAN nuclear factor I/B 62 CTF/NF-I. anterior commissure morphogenesis|chondrocyte differentiation|Clara cell differentiation|commissural neuron axon guidance|DNA replication|glial cell differentiation|lung ciliated cell differentiation|negative regulation of DNA binding|negative regulation of epithelial cell proliferation involved in lung morphogenesis|negative regulation of mesenchymal cell proliferation involved in lung development|positive regulation of transcription from RNA polymerase II promoter|principal sensory nucleus of trigeminal nerve development|Type I pneumocyte differentiation|Type II pneumocyte differentiation cerebellar mossy fiber|nucleolus|nucleus RNA polymerase II transcription corepressor activity|sequence-specific DNA binding RNA polymerase II transcription factor activity 0 GBM - Glioblastoma multiforme(50;4.4e-08)|LUAD - Lung adenocarcinoma(58;0.119)|Lung(218;0.164) GCTTTTCACTGAGAAGCTCAT 0.458000 T MYB|HGMA2 adenoid cystic carcinoma|lipoma PTPLAD2 401494 broad.mit.edu 37 9 21029331 21029331 + Silent SNP A A G TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chr9:21029331A>G uc010miq.1 - 2 151 c.105T>C c.(103-105)TTT>TTC p.F35F PTPLAD2_uc003zoj.1_5'UTR|PTPLAD2_uc010mir.1_Silent_p.F35F NM_001010915 NP_001010915 Q5VWC8 HACD4_HUMAN protein tyrosine phosphatase-like A domain 35 Helical; (Potential). fatty acid biosynthetic process endoplasmic reticulum membrane|integral to membrane lyase activity skin(1) 1 Lung(24;6.02e-14)|LUSC - Lung squamous cell carcinoma(38;1.29e-10) TCATATTTGTAAATATCCAAG 0.313000 IFNA5 3442 broad.mit.edu 37 9 21304795 21304795 + Missense_Mutation SNP A A G TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chr9:21304795A>G uc011lnh.1 - 1 461 c.461T>C c.(460-462)CTG>CCG p.L154P NM_002169 NP_002160 P01569 IFNA5_HUMAN interferon, alpha 5 precursor 154 blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway extracellular space cytokine activity|cytokine receptor binding ovary(1) 1 Lung(24;2.34e-24)|LUSC - Lung squamous cell carcinoma(38;1.4e-13) CTTCTCTGTCAGATAGAGGGT 0.438000 UBAP2 55833 broad.mit.edu 37 9 33943446 33943446 + Missense_Mutation SNP G G A TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chr9:33943446G>A uc003ztq.1 - 15 1800 c.1687C>T c.(1687-1689)CCC>TCC p.P563S UBAP2_uc011loc.1_Missense_Mutation_p.P472S|UBAP2_uc011lod.1_Missense_Mutation_p.P296S|UBAP2_uc011loe.1_Missense_Mutation_p.P318S|UBAP2_uc011lof.1_Missense_Mutation_p.P488S|UBAP2_uc011log.1_Missense_Mutation_p.P509S|UBAP2_uc003ztr.2_Missense_Mutation_p.P435S|UBAP2_uc003zts.2_Missense_Mutation_p.P196S NM_018449 NP_060919 Q5T6F2 UBAP2_HUMAN ubiquitin associated protein 2 563 ovary(3) 3 LUSC - Lung squamous cell carcinoma(29;0.00575) GBM - Glioblastoma multiforme(74;0.168) AAGCTGATGGGAATCTGATTA 0.393000 TMEM8B 51754 broad.mit.edu 37 9 35846984 35846984 + Missense_Mutation SNP T T G TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chr9:35846984T>G uc003zym.2 + 11 1826 c.811T>G c.(811-813)TTC>GTC p.F271V TMEM8B_uc003zyk.2_Missense_Mutation_p.F271V|TMEM8B_uc003zyl.2_Missense_Mutation_p.F438V|TMEM8B_uc003zyn.2_Missense_Mutation_p.L166R|TMEM8B_uc003zyo.2_Missense_Mutation_p.F271V NM_001042589 NP_001036054 A6NDV4 TMM8B_HUMAN transmembrane protein 8B isoform a 271 Helical; (Potential). cell-matrix adhesion|regulation of growth|regulation of mitotic cell cycle cell surface|endoplasmic reticulum|integral to membrane|mitochondrion|nucleus|plasma membrane protein binding ovary(1) 1 CACCATGTTCTTCTCCACGGT 0.547000 RECK 8434 broad.mit.edu 37 9 36112368 36112368 + Missense_Mutation SNP G G A TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chr9:36112368G>A uc003zyv.2 + 16 2041 c.1955G>A c.(1954-1956)AGT>AAT p.S652N RECK_uc003zyw.2_Missense_Mutation_p.S524N|RECK_uc003zyx.2_RNA NM_021111 NP_066934 O95980 RECK_HUMAN RECK protein precursor 652 Kazal-like 1. anchored to membrane|peripheral to membrane of membrane fraction|plasma membrane metalloendopeptidase inhibitor activity|serine-type endopeptidase inhibitor activity skin(2)|ovary(1) 3 LUSC - Lung squamous cell carcinoma(32;0.112)|STAD - Stomach adenocarcinoma(86;0.228) ACTTACCCCAGTGCCTGCATT 0.488000 ZCCHC7 84186 broad.mit.edu 37 9 37356915 37356915 + Missense_Mutation SNP A A G TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chr9:37356915A>G uc003zzq.2 + 9 1455 c.1282A>G c.(1282-1284)AGG>GGG p.R428G ZCCHC7_uc011lqh.1_Missense_Mutation_p.R138G|ZCCHC7_uc011lqi.1_Missense_Mutation_p.R427G|ZCCHC7_uc010mlt.2_Missense_Mutation_p.R427G NM_032226 NP_115602 Q8N3Z6 ZCHC7_HUMAN zinc finger, CCHC domain containing 7 428 nucleic acid binding|zinc ion binding ovary(1)|central_nervous_system(1)|skin(1) 3 GBM - Glioblastoma multiforme(29;0.0137) CCATGATATAAGGAAGGGCCG 0.398000 ZNF658 26149 broad.mit.edu 37 9 40784134 40784134 + Missense_Mutation SNP C C A TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chr9:40784134C>A uc004abs.2 - 4 363 c.211G>T c.(211-213)GAT>TAT p.D71Y ZNF658_uc010mmm.1_Missense_Mutation_p.D71Y|ZNF658_uc010mmn.1_Missense_Mutation_p.D71Y NM_033160 NP_149350 Q5TYW1 ZN658_HUMAN zinc finger protein 658 71 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681) AGGAATTCATCTTCTAAAGAC 0.433000 TRPM3 80036 broad.mit.edu 37 9 73151027 73151027 + Missense_Mutation SNP T T C TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chr9:73151027T>C uc004aid.2 - 25 5210 c.4966A>G c.(4966-4968)ATC>GTC p.I1656V TRPM3_uc004ahu.2_Missense_Mutation_p.I1498V|TRPM3_uc004ahv.2_Missense_Mutation_p.I1458V|TRPM3_uc004ahw.2_Missense_Mutation_p.I1528V|TRPM3_uc004ahx.2_Missense_Mutation_p.I1515V|TRPM3_uc004ahy.2_Missense_Mutation_p.I1518V|TRPM3_uc004ahz.2_Missense_Mutation_p.I1505V|TRPM3_uc004aia.2_Missense_Mutation_p.I1503V|TRPM3_uc004aib.2_Missense_Mutation_p.I1493V|TRPM3_uc004aic.2_Intron NM_001007471 NP_001007472 Q9HCF6 TRPM3_HUMAN transient receptor potential cation channel, 1681 Cytoplasmic (Potential). integral to membrane calcium channel activity ovary(3)|pancreas(2)|central_nervous_system(2)|skin(2) 9 TTGTCACTGATGGAGAAGCTC 0.577000 TRPM3 80036 broad.mit.edu 37 9 73151754 73151754 + Missense_Mutation SNP A A C TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chr9:73151754A>C uc004aid.2 - 25 4483 c.4239T>G c.(4237-4239)GAT>GAG p.D1413E TRPM3_uc004ahu.2_Missense_Mutation_p.D1255E|TRPM3_uc004ahv.2_Missense_Mutation_p.D1215E|TRPM3_uc004ahw.2_Missense_Mutation_p.D1285E|TRPM3_uc004ahx.2_Missense_Mutation_p.D1272E|TRPM3_uc004ahy.2_Missense_Mutation_p.D1275E|TRPM3_uc004ahz.2_Missense_Mutation_p.D1262E|TRPM3_uc004aia.2_Missense_Mutation_p.D1260E|TRPM3_uc004aib.2_Missense_Mutation_p.D1250E|TRPM3_uc004aic.2_Intron NM_001007471 NP_001007472 Q9HCF6 TRPM3_HUMAN transient receptor potential cation channel, 1438 Cytoplasmic (Potential). integral to membrane calcium channel activity ovary(3)|pancreas(2)|central_nervous_system(2)|skin(2) 9 GAGGGTCTATATCACAGTGGA 0.507000 ALDH1A1 216 broad.mit.edu 37 9 75567908 75567908 + Silent SNP G G T TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chr9:75567908G>T uc004ajd.2 - 1 62 c.9C>A c.(7-9)TCC>TCA p.S3S ALDH1A1_uc011lsh.1_Intron NM_000689 NP_000680 P00352 AL1A1_HUMAN aldehyde dehydrogenase 1A1 3 cellular aldehyde metabolic process|ethanol oxidation|xenobiotic metabolic process cytosol aldehyde dehydrogenase (NAD) activity|androgen binding|Ras GTPase activator activity|retinal dehydrogenase activity ovary(3)|lung(1) 4 NADH(DB00157)|Tretinoin(DB00755)|Vitamin A(DB00162) GCGTGCCTGAGGATGACATTT 0.428000 PRUNE2 158471 broad.mit.edu 37 9 79325825 79325825 + Silent SNP A A T TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chr9:79325825A>T uc010mpk.2 - 8 1489 c.1365T>A c.(1363-1365)GGT>GGA p.G455G NM_015225 NP_056040 Q8WUY3 PRUN2_HUMAN prune homolog 2 455 apoptosis|G1 phase|induction of apoptosis cytoplasm metal ion binding|pyrophosphatase activity 0 GAGGCCCAGCACCTTCTCCCA 0.607000 C9orf103 414328 broad.mit.edu 37 9 86258448 86258448 + Missense_Mutation SNP A A G TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chr9:86258448A>G uc004amu.1 + 5 331 c.317A>G c.(316-318)GAG>GGG p.E106G C9orf103_uc004amt.1_Missense_Mutation_p.E60G|C9orf103_uc010mpv.1_Missense_Mutation_p.E60G NM_001001551 NP_001001551 Q5T6J7 GNTK_HUMAN gluconokinase-like protein 106 carbohydrate metabolic process cytoplasm ATP binding|gluconokinase activity|shikimate kinase activity 0 CTGAAGTGTGAGGAGTCGGGA 0.512000 KIF27 55582 broad.mit.edu 37 9 86457159 86457159 + Silent SNP T T G TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chr9:86457159T>G uc004ana.2 - 17 3858 c.3714A>C c.(3712-3714)CCA>CCC p.P1238P KIF27_uc010mpw.2_Silent_p.P1172P|KIF27_uc010mpx.2_Silent_p.P1141P NM_017576 NP_060046 Q86VH2 KIF27_HUMAN kinesin family member 27 1238 cilium assembly|microtubule-based movement cilium|cytoplasm|microtubule ATP binding|microtubule motor activity lung(4)|skin(1) 5 TACACTCTGATGGTGCTAGTT 0.408000 ZNF782 158431 broad.mit.edu 37 9 99580994 99580994 + Silent SNP T T G TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chr9:99580994T>G uc004awp.1 - 6 1592 c.1311A>C c.(1309-1311)CTA>CTC p.L437L ZNF782_uc011lup.1_Silent_p.L305L NM_001001662 NP_001001662 Q6ZMW2 ZN782_HUMAN zinc finger protein 782 437 C2H2-type 6. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 Acute lymphoblastic leukemia(62;0.0527) GGTGTATTCTTAGGCCTGACT 0.418000 TEX10 54881 broad.mit.edu 37 9 103111616 103111616 + Missense_Mutation SNP A A C TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chr9:103111616A>C uc004bas.2 - 2 245 c.30T>G c.(28-30)GAT>GAG p.D10E TEX10_uc011lvf.1_5'Flank|TEX10_uc011lvg.1_Missense_Mutation_p.D13E|TEX10_uc011lvh.1_Intron|TEX10_uc004bat.2_Missense_Mutation_p.D10E NM_017746 NP_060216 Q9NXF1 TEX10_HUMAN testis expressed 10 isoform 1 10 integral to membrane|MLL1 complex|nuclear membrane|nucleolus binding ovary(1)|skin(1) 2 Acute lymphoblastic leukemia(62;0.0527) OV - Ovarian serous cystadenocarcinoma(323;0.157) CTTTTTGAAAATCATGTTGGC 0.294000 TMEFF1 8577 broad.mit.edu 37 9 103204421 103204421 + Silent SNP C C T TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chr9:103204421C>T uc004bay.1 + 1 234 c.201C>T c.(199-201)TTC>TTT p.F67F C9orf30_uc004baw.2_Silent_p.F67F|C9orf30_uc004bax.2_RNA NM_003692 NP_003683 Q8IYR6 TEFF1_HUMAN transmembrane protein with EGF-like and two Error:Variant_position_missing_in_Q8IYR6_after_alignment multicellular organismal development integral to membrane|plasma membrane 0 Acute lymphoblastic leukemia(62;0.0452) TGCGGGATTTCAAACAGCTGA 0.527000 SLC44A1 23446 broad.mit.edu 37 9 108136917 108136917 + Missense_Mutation SNP C C A TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chr9:108136917C>A uc004bcn.2 + 13 1754 c.1533C>A c.(1531-1533)TTC>TTA p.F511L SLC44A1_uc010mtk.1_Missense_Mutation_p.F511L|SLC44A1_uc004bco.1_Missense_Mutation_p.F303L NM_080546 NP_536856 Q8WWI5 CTL1_HUMAN CDW92 antigen 511 Mitochondrial intermembrane (Potential). integral to membrane|mitochondrial outer membrane|plasma membrane choline transmembrane transporter activity breast(3)|ovary(1) 4 Choline(DB00122) GCACCAACTTCTGCACCTCAG 0.413000 LPAR1 1902 broad.mit.edu 37 9 113637849 113637849 + Missense_Mutation SNP T T G TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chr9:113637849T>G uc004bfa.2 - 5 1202 c.947A>C c.(946-948)AAA>ACA p.K316T LPAR1_uc011lwm.1_Missense_Mutation_p.K317T|LPAR1_uc004bfb.2_Missense_Mutation_p.K316T|LPAR1_uc004bfc.2_Missense_Mutation_p.K316T|LPAR1_uc011lwn.1_Missense_Mutation_p.K298T|LPAR1_uc011lwo.1_Missense_Mutation_p.K317T|LPAR1_uc010mub.2_Missense_Mutation_p.K316T NM_057159 NP_476500 Q92633 LPAR1_HUMAN lysophosphatidic acid receptor 1 316 Cytoplasmic (Potential). positive regulation of I-kappaB kinase/NF-kappaB cascade cell surface|integral to plasma membrane ovary(2) 2 GCTCATTTCTTTGTCGCGGTA 0.557000 LPAR1 1902 broad.mit.edu 37 9 113704450 113704450 + Splice_Site SNP T T C TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chr9:113704450T>C uc004bfa.2 - 4 301 c.46_splice c.e4-1 p.F16_splice LPAR1_uc011lwm.1_Splice_Site_p.F17_splice|LPAR1_uc004bfb.2_Splice_Site_p.F16_splice|LPAR1_uc004bfc.2_Splice_Site_p.F16_splice|LPAR1_uc011lwn.1_Splice_Site|LPAR1_uc011lwo.1_Splice_Site_p.F17_splice|LPAR1_uc010mub.2_Splice_Site_p.F16_splice NM_057159 NP_476500 Q92633 LPAR1_HUMAN lysophosphatidic acid receptor 1 positive regulation of I-kappaB kinase/NF-kappaB cascade cell surface|integral to plasma membrane ovary(2) 2 GGCTGTGAACTAAAAGAAAAA 0.368000 SNX30 401548 broad.mit.edu 37 9 115579987 115579987 + Silent SNP T T C TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chr9:115579987T>C uc004bgj.3 + 3 499 c.351T>C c.(349-351)AGT>AGC p.S117S NM_001012994 NP_001013012 Q5VWJ9 SNX30_HUMAN sorting nexin family member 30 117 PX. cell communication|protein transport cytoplasm phosphatidylinositol binding 0 CTTTGCAGAGTACTCGGGTGG 0.428000 DBC1 1620 broad.mit.edu 37 9 121929915 121929915 + Missense_Mutation SNP G G A TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chr9:121929915G>A uc004bkc.2 - 8 2189 c.1733C>T c.(1732-1734)CCC>CTC p.P578L NM_014618 NP_055433 O60477 DBC1_HUMAN deleted in bladder cancer 1 precursor 578 cell cycle arrest|cell death cytoplasm protein binding skin(3)|ovary(2)|central_nervous_system(2)|large_intestine(1) 8 TTCCCCGAAGGGCATGTTCCA 0.542000 NDUFA8 4702 broad.mit.edu 37 9 124914536 124914536 + Missense_Mutation SNP A A G TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chr9:124914536A>G uc004blv.2 - 2 345 c.203T>C c.(202-204)TTG>TCG p.L68S NM_014222 NP_055037 P51970 NDUA8_HUMAN NADH dehydrogenase (ubiquinone) 1 alpha 68 CHCH 1. mitochondrial electron transport, NADH to ubiquinone|transport mitochondrial intermembrane space|mitochondrial respiratory chain complex I NADH dehydrogenase (ubiquinone) activity breast(1) 1 NADH(DB00157) AAAGAAGTCCAAAGCACACTT 0.413000 PTGES2 80142 broad.mit.edu 37 9 130884681 130884681 + Missense_Mutation SNP C C T TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chr9:130884681C>T uc004bti.2 - 6 1443 c.965G>A c.(964-966)CGG>CAG p.R322Q PTGES2_uc004btj.2_RNA|PTGES2_uc004btk.2_Missense_Mutation_p.R131Q|PTGES2_uc004btl.2_Missense_Mutation_p.R131Q|PTGES2_uc004btm.2_RNA NM_025072 NP_079348 Q9H7Z7 PGES2_HUMAN prostaglandin E synthase 2 322 GST C-terminal.|Cytoplasmic (Potential). cell redox homeostasis|prostaglandin biosynthetic process Golgi membrane|integral to membrane|mitochondrion|perinuclear region of cytoplasm electron carrier activity|prostaglandin-E synthase activity|protein binding|protein disulfide oxidoreductase activity 0 CATGAAGGGCCGGTCCTTGCC 0.647000 CCBL1 883 broad.mit.edu 37 9 131600576 131600576 + Missense_Mutation SNP A A G TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chr9:131600576A>G uc004bwh.2 - 4 457 c.272T>C c.(271-273)CTC>CCC p.L91P CCBL1_uc004bwf.2_Missense_Mutation_p.L125P|CCBL1_uc004bwg.2_Intron|CCBL1_uc010myn.2_Missense_Mutation_p.L91P|CCBL1_uc004bwj.2_Intron|CCBL1_uc011mbl.1_Missense_Mutation_p.L185P|CCBL1_uc004bwi.2_RNA|CCBL1_uc010myo.2_Missense_Mutation_p.L91P NM_004059 NP_004050 Q16773 KAT1_HUMAN kynurenine aminotransferase I isoform a 91 kynurenine metabolic process|L-phenylalanine catabolic process|tryptophan catabolic process cytosol|nucleus 1-aminocyclopropane-1-carboxylate synthase activity|cysteine-S-conjugate beta-lyase activity|glutamine-phenylpyruvate transaminase activity|kynurenine-oxoglutarate transaminase activity|L-glutamine:pyruvate aminotransferase activity|L-phenylalanine:pyruvate aminotransferase activity|protein homodimerization activity|pyridoxal phosphate binding ovary(1) 1 L-Glutamine(DB00130)|Pyridoxal Phosphate(DB00114) CACATTCCTGAGCGGGTCTAT 0.592000 OLFM1 10439 broad.mit.edu 37 9 138011358 138011358 + Silent SNP C C T TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chr9:138011358C>T uc010nar.2 + 6 1108 c.792C>T c.(790-792)TAC>TAT p.Y264Y OLFM1_uc004cfl.3_Silent_p.Y246Y|OLFM1_uc004cfn.3_Silent_p.Y15Y NM_014279 NP_055094 Q99784 NOE1_HUMAN olfactomedin related ER localized protein 264 Olfactomedin-like. nervous system development endoplasmic reticulum lumen protein binding ovary(1)|skin(1) 2 Myeloproliferative disorder(178;0.0333) Epithelial(140;5.49e-08)|OV - Ovarian serous cystadenocarcinoma(145;9.68e-08)|all cancers(34;1.88e-07) AGGTGTGGTACATGGACGGCT 0.532000 MAMDC4 158056 broad.mit.edu 37 9 139748065 139748065 + Silent SNP C C T TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chr9:139748065C>T uc004cjs.2 + 4 447 c.397C>T c.(397-399)CTG>TTG p.L133L MAMDC4_uc011mej.1_5'UTR NM_206920 NP_996803 Q6UXC1 AEGP_HUMAN apical early endosomal glycoprotein precursor 133 Extracellular (Potential).|MAM 1. protein transport integral to membrane breast(4)|upper_aerodigestive_tract(2)|central_nervous_system(1) 7 all_cancers(76;0.0763)|all_epithelial(76;0.198) Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;1.52e-05)|Epithelial(140;0.000171) CTCGCCAACCCTGCGAGAGGC 0.682000 MSL3 10943 broad.mit.edu 37 X 11779011 11779011 + Missense_Mutation SNP T T A TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chrX:11779011T>A uc004cuw.2 + 4 442 c.337T>A c.(337-339)TTA>ATA p.L113I MSL3_uc004cuv.1_Missense_Mutation_p.L113I|MSL3_uc004cux.2_Missense_Mutation_p.L54I|MSL3_uc011mig.1_5'UTR|MSL3_uc011mih.1_Missense_Mutation_p.L101I|MSL3_uc004cuy.2_5'UTR|MSL3_uc011mii.1_5'UTR NM_078629 NP_523353 Q8N5Y2 MS3L1_HUMAN male-specific lethal 3-like 1 isoform a 113 histone H4-K16 acetylation|multicellular organismal development|transcription from RNA polymerase II promoter MSL complex DNA binding|methylated histone residue binding|sequence-specific DNA binding transcription factor activity ovary(1) 1 GGACTCTGTCTTAAAAGGCCT 0.418000 KLHL15 80311 broad.mit.edu 37 X 24006435 24006435 + Missense_Mutation SNP T T G TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chrX:24006435T>G uc004dba.3 - 4 1674 c.1418A>C c.(1417-1419)AAG>ACG p.K473T NM_030624 NP_085127 Q96M94 KLH15_HUMAN kelch-like 15 473 Kelch 3. ovary(1)|breast(1) 2 GTAATTCATCTTGCTCTTATT 0.458000 ZFX 7543 broad.mit.edu 37 X 24226360 24226360 + Silent SNP T T G TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chrX:24226360T>G uc004dbf.2 + 7 1224 c.966T>G c.(964-966)GTT>GTG p.V322V ZFX_uc004dbd.1_Silent_p.V322V|ZFX_uc010nfx.1_Silent_p.V93V|ZFX_uc004dbe.2_Silent_p.V322V|ZFX_uc011mjv.1_Silent_p.V361V|ZFX_uc010nfy.1_Intron|ZFX_uc010nfz.2_Silent_p.V25V NM_003410 NP_003401 P17010 ZFX_HUMAN zinc finger protein, X-linked 322 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|transcription coactivator activity|zinc ion binding ovary(2) 2 CTGACGAAGTTTATATGGAAG 0.443000 IL1RAPL1 11141 broad.mit.edu 37 X 29301159 29301159 + Missense_Mutation SNP A A C TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chrX:29301159A>C uc004dby.2 + 3 695 c.187A>C c.(187-189)AAT>CAT p.N63H NM_014271 NP_055086 Q9NZN1 IRPL1_HUMAN interleukin 1 receptor accessory protein-like 1 63 Ig-like C2-type 1.|Extracellular (Potential). innate immune response|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of exocytosis|regulation of neuron projection development cytoplasm|integral to membrane|plasma membrane protein binding|transmembrane receptor activity ovary(3)|lung(1)|pancreas(1) 5 TATCAGAACAAATTACTCCCT 0.418000 KDM6A 7403 broad.mit.edu 37 X 44928861 44928861 + Missense_Mutation SNP C C G TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chrX:44928861C>G uc004dge.3 + 17 2336 c.1961C>G c.(1960-1962)CCT>CGT p.P654R KDM6A_uc010nhk.2_Missense_Mutation_p.P620R|KDM6A_uc011mkz.1_Missense_Mutation_p.P706R|KDM6A_uc011mla.1_Missense_Mutation_p.P609R|KDM6A_uc011mlb.1_Missense_Mutation_p.P661R|KDM6A_uc011mlc.1_Missense_Mutation_p.P358R|KDM6A_uc011mld.1_Missense_Mutation_p.P293R NM_021140 NP_066963 O15550 KDM6A_HUMAN ubiquitously transcribed tetratricopeptide 654 histone H3-K4 methylation metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen kidney(24)|haematopoietic_and_lymphoid_tissue(23)|oesophagus(11)|large_intestine(7)|lung(5)|breast(4)|central_nervous_system(3)|urinary_tract(3)|endometrium(2)|pancreas(2) 84 TCGGCAGGTCCTAATGGTGAA 0.443000 D|N|F|S renal|oesophageal SCC|MM ITIH5L 347365 broad.mit.edu 37 X 54785174 54785174 + Missense_Mutation SNP T T C TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chrX:54785174T>C uc004dtj.2 - 8 1363 c.1333A>G c.(1333-1335)AAC>GAC p.N445D NM_198510 NP_940912 Q6UXX5 ITH5L_HUMAN inter-alpha (globulin) inhibitor H5-like 445 VWFA. hyaluronan metabolic process extracellular region serine-type endopeptidase inhibitor activity lung(2)|skin(2)|ovary(1)|breast(1) 6 ATTCCCCGGTTTTCCAGGGAC 0.582000 TRO 7216 broad.mit.edu 37 X 54955296 54955296 + Missense_Mutation SNP A A C TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chrX:54955296A>C uc004dtq.2 + 12 2246 c.2139A>C c.(2137-2139)GAA>GAC p.E713D TRO_uc004dts.2_Intron|TRO_uc004dtr.2_Intron|TRO_uc004dtt.2_Intron|TRO_uc004dtu.2_Intron|TRO_uc004dtv.2_Intron|TRO_uc011mok.1_Missense_Mutation_p.E244D|TRO_uc004dtw.2_Missense_Mutation_p.E316D|TRO_uc004dtx.2_Missense_Mutation_p.E96D NM_001039705 NP_001034794 Q12816 TROP_HUMAN trophinin isoform 5 713 embryo implantation|homophilic cell adhesion integral to plasma membrane ovary(1) 1 GAGCCCAAGAAAATGCAGATG 0.493000 ZC4H2 55906 broad.mit.edu 37 X 64140008 64140008 + Silent SNP C C T TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chrX:64140008C>T uc004dvu.2 - 3 439 c.351G>A c.(349-351)CTG>CTA p.L117L ZC4H2_uc004dvv.2_Silent_p.L94L|ZC4H2_uc011mov.1_Silent_p.L94L|ZC4H2_uc011mow.1_Silent_p.L117L|ZC4H2_uc004dvw.1_Silent_p.L117L NM_018684 NP_061154 Q9NQZ6 ZC4H2_HUMAN zinc finger, C4H2 domain containing 117 metal ion binding|protein binding ovary(1) 1 GGAGCCTCTGCAGGCCCAGAG 0.522000 RLIM 51132 broad.mit.edu 37 X 73812787 73812787 + Silent SNP A A G TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chrX:73812787A>G uc004ebu.2 - 5 653 c.363T>C c.(361-363)TCT>TCC p.S121S RLIM_uc004ebw.2_Silent_p.S121S NM_183353 NP_899196 Q9NVW2 RNF12_HUMAN ring finger protein, LIM domain interacting 121 random inactivation of X chromosome|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process cytoplasm|transcriptional repressor complex transcription corepressor activity|ubiquitin-protein ligase activity|zinc ion binding ovary(2) 2 CTGCTCTCCAAGATTGGTTTC 0.393000 KLHL4 56062 broad.mit.edu 37 X 86773290 86773290 + Missense_Mutation SNP G G A TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chrX:86773290G>A uc004efb.2 + 1 576 c.394G>A c.(394-396)GAT>AAT p.D132N KLHL4_uc004efa.2_Missense_Mutation_p.D132N NM_019117 NP_061990 Q9C0H6 KLHL4_HUMAN kelch-like 4 isoform 1 132 cytoplasm|microtubule cytoskeleton|nucleolus actin binding ovary(2)|lung(1)|breast(1)|central_nervous_system(1) 5 GATGATGGCTGATGACAATAT 0.363000 TCEAL5 340543 broad.mit.edu 37 X 102529262 102529262 + Missense_Mutation SNP T T G TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chrX:102529262T>G uc004ejz.1 - 3 525 c.230A>C c.(229-231)AAG>ACG p.K77T NM_001012979 NP_001012997 Q5H9L2 TCAL5_HUMAN transcription elongation factor A (SII)-like 5 77 Glu-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding lung(1)|breast(1) 2 ACCTTCAGACTTGCCCTGCTT 0.418000 CXorf57 55086 broad.mit.edu 37 X 105855681 105855681 + Missense_Mutation SNP A A G TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chrX:105855681A>G uc004emi.3 + 1 522 c.371A>G c.(370-372)AAA>AGA p.K124R CXorf57_uc004emj.3_Missense_Mutation_p.K124R|CXorf57_uc004emh.2_Missense_Mutation_p.K124R NM_018015 NP_060485 Q6NSI4 CX057_HUMAN hypothetical protein LOC55086 124 ovary(1)|lung(1)|breast(1) 3 AATATTCTTAAAGTTGGCATT 0.453000 KIAA1210 57481 broad.mit.edu 37 X 118221482 118221482 + Silent SNP T T C TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chrX:118221482T>C uc004era.3 - 11 3711 c.3711A>G c.(3709-3711)CAA>CAG p.Q1237Q NM_020721 NP_065772 Q9ULL0 K1210_HUMAN hypothetical protein LOC57481 1237 ovary(4)|skin(1) 5 CTGAGAAAACTTGGTGCTTGA 0.478000 THOC2 57187 broad.mit.edu 37 X 122830587 122830587 + Missense_Mutation SNP T T G TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chrX:122830587T>G uc004etu.2 - 6 483 c.451A>C c.(451-453)ATC>CTC p.I151L THOC2_uc011muh.1_Missense_Mutation_p.I72L|THOC2_uc011mui.1_Missense_Mutation_p.I36L NM_001081550 NP_001075019 Q8NI27 THOC2_HUMAN THO complex 2 151 intronless viral mRNA export from host nucleus|mRNA processing|RNA splicing THO complex part of transcription export complex protein binding|RNA binding ovary(3) 3 TTTGTCTTGATTTTAACTGAC 0.358000 USP26 83844 broad.mit.edu 37 X 132162027 132162027 + Silent SNP A A C TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chrX:132162027A>C uc010nrm.1 - 6 692 c.222T>G c.(220-222)ACT>ACG p.T74T USP26_uc011mvf.1_Silent_p.T74T NM_031907 NP_114113 Q9BXU7 UBP26_HUMAN ubiquitin-specific protease 26 74 protein deubiquitination|ubiquitin-dependent protein catabolic process nucleus cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity lung(3)|central_nervous_system(3)|kidney(1)|liver(1) 8 Acute lymphoblastic leukemia(192;0.000127) TATTTTGTAAAGTTAAATGCA 0.328000 ARHGEF6 9459 broad.mit.edu 37 X 135862980 135862980 + Missense_Mutation SNP T T G TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chrX:135862980T>G uc004fab.2 - 1 524 c.62A>C c.(61-63)AAA>ACA p.K21T NM_004840 NP_004831 Q15052 ARHG6_HUMAN Rac/Cdc42 guanine nucleotide exchange factor 6 21 CH. apoptosis|cell junction assembly|induction of apoptosis by extracellular signals|JNK cascade|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity|Rho guanyl-nucleotide exchange factor activity 0 Acute lymphoblastic leukemia(192;0.000127) GATGGTCTTTTTAGGGGACTC 0.458000 FGD1 2245 broad.mit.edu 37 X 54472631 54472632 + Frame_Shift_Ins INS - - G TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chrX:54472631_54472632insG uc004dtg.2 - 18 3530_3531 c.2796_2797insC c.(2794-2799)TCTGAGfs p.S932fs NM_004463 NP_004454 P98174 FGD1_HUMAN faciogenital dysplasia protein 932_933 actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|organ morphogenesis|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction cytoskeleton|cytosol|Golgi apparatus|lamellipodium|nucleus|plasma membrane|ruffle metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding ovary(3)|skin(2)|central_nervous_system(1) 6 TCCCTGTCCTCAGACAGTGTGG 0.644 RPL35A 6165 broad.mit.edu 37 3 197678096 197678098 + In_Frame_Del DEL TCT TCT - rs116840807 TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chr3:197678095_197678097CTCT>C uc003fyr.3 + 2 150_152 c.77_79CTCT>C c.(76-81)gctctt>gCtt p.L28del IQCG_uc003fyo.3_5'Flank|IQCG_uc003fyp.3_Intron|IQCG_uc003fyq.4_5'Flank|RPL35A_uc003fys.3_In_Frame_Del_p.L28del NM_000996 NP_000987 P18077 RL35A_HUMAN Homo sapiens ribosomal protein L35a (RPL35A), mRNA. 28 endocrine pancreas development|rRNA processing|ribosomal large subunit biogenesis|translational elongation|translational termination|viral transcription cytosol|ribosome protein binding|structural constituent of ribosome|tRNA binding lung(1)|prostate(1)|urinary_tract(1) 3 all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976) Lung NSC(153;0.132) Epithelial(36;1.04e-23)|all cancers(36;3.34e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07) GBM - Glioblastoma multiforme(93;0.182) GAGCACACAGCTCTTCTTAAAAT 0.419 RAB6A 5870 broad.mit.edu 37 11 73388969 73388978 + Frame_Shift_Del DEL CTGGTTGCTC CTGGTTGCTC - TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chr11:73388968_73388977ACTGGTTGCTC>A uc001ouf.3 - 7 1114_1123 c.593_602GAGCAACCAGT>T c.(592-603)gagcaaccagtcfs p.E198fs RAB6A_uc021qnd.1_Frame_Shift_Del_p.E165fs|RAB6A_uc001oue.3_Frame_Shift_Del_p.E198fs|RAB6A_uc009yts.3_Frame_Shift_Del_p.E94fs NM_198896 NP_942599 P20340 RAB6A_HUMAN Homo sapiens RAB6A, member RAS oncogene family (RAB6A), transcript variant 2, mRNA. 198 minus-end-directed organelle transport along microtubule|peptidyl-cysteine methylation|protein targeting to Golgi|retrograde vesicle-mediated transport, Golgi to ER|small GTPase mediated signal transduction Golgi membrane|cytoplasmic vesicle|cytosol|trans-Golgi network GTP binding|GTPase activity|protein domain specific binding large_intestine(2)|lung(2) 4 TCCTTCACTGACTGGTTGCTCCTGAGGCTT 0.424 EVPL 2125 broad.mit.edu 37 17 74005091 74005093 + In_Frame_Del DEL CCT CCT - TCGA-CD-5801-01A-11D-1600-08 TCGA-CD-5801-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6097aab1-54ce-4157-85fd-3543fe555da7 797549d4-068f-4f51-9d73-4f187492e0bf g.chr17:74005090_74005092ACCT>A uc010wss.1 - 21 4488_4490 c.4260_4262AGGT>T c.(4258-4263)gaggtg>gaTg p.1420_1421EV>D EVPL_uc002jqi.2_In_Frame_Del_p.1398_1399EV>D|EVPL_uc010wst.1_In_Frame_Del_p.868_869EV>D NM_001988 NP_001979 Q92817 EVPL_HUMAN Homo sapiens envoplakin (EVPL), mRNA. 1398 Central fibrous rod domain. keratinization|peptide cross-linking cornified envelope|cytoplasm|desmosome protein binding, bridging|structural molecule activity p.G1421S(1) breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4) 54 CCGCCGGCCCACCTCCTCATCCA 0.690