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 isArtifactMode oxoGCut pox pox_cutoff qox t_alt_count t_ref_count validation_alt_allele validation_tumor_sample MTHFR 4524 broad.mit.edu 37 1 11861287 11861287 + Missense_Mutation SNP C C T TCGA-DK-A1AB-01A-11D-A13W-08 TCGA-DK-A1AB-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f0fb2ba-0351-4ce0-8b74-31aa3deecae1 6bb1a3eb-1659-4df1-935d-f8b2d710ace4 g.chr1:11861287C>T uc001atc.1 - 3 590 c.406G>A c.(406-408)GAG>AAG p.E136K MTHFR_uc001atb.1_Missense_Mutation_p.E159K NM_005957 NP_005948 P42898 MTHR_HUMAN 5,10-methylenetetrahydrofolate reductase 136 blood circulation|folic acid metabolic process cytosol methylenetetrahydrofolate reductase (NADPH) activity|protein binding 0 Ovarian(185;0.249) Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00826)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.66e-06)|COAD - Colon adenocarcinoma(227;0.000261)|BRCA - Breast invasive adenocarcinoma(304;0.000304)|Kidney(185;0.000777)|KIRC - Kidney renal clear cell carcinoma(229;0.00261)|STAD - Stomach adenocarcinoma(313;0.0073)|READ - Rectum adenocarcinoma(331;0.0649) Benazepril(DB00542)|Cyanocobalamin(DB00115)|Folic Acid(DB00158)|L-Methionine(DB00134)|Menadione(DB00170)|Methotrexate(DB00563)|Pyridoxal Phosphate(DB00114)|Pyridoxine(DB00165)|Raltitrexed(DB00293)|Riboflavin(DB00140)|S-Adenosylmethionine(DB00118)|Tetrahydrofolic acid(DB00116) GTGATCTCCTCCAGGCGCTGA 0.612 NaN 0 0 0 0.049695 0 17 96 PHACTR4 65979 broad.mit.edu 37 1 28786756 28786756 + Missense_Mutation SNP G G C TCGA-DK-A1AB-01A-11D-A13W-08 TCGA-DK-A1AB-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f0fb2ba-0351-4ce0-8b74-31aa3deecae1 6bb1a3eb-1659-4df1-935d-f8b2d710ace4 g.chr1:28786756G>C uc001bpw.2 + 4 506 c.224G>C c.(223-225)AGA>ACA p.R75T PHACTR4_uc001bpu.2_Missense_Mutation_p.R75T|PHACTR4_uc001bpv.1_RNA|PHACTR4_uc001bpx.2_Missense_Mutation_p.R59T|PHACTR4_uc001bpy.2_Missense_Mutation_p.R85T NM_001048183 NP_001041648 Q8IZ21 PHAR4_HUMAN phosphatase and actin regulator 4 isoform 1 75 RPEL 1. actin binding|protein phosphatase inhibitor activity 0 Colorectal(325;3.46e-05)|Lung NSC(340;4.37e-05)|all_lung(284;7.01e-05)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261) OV - Ovarian serous cystadenocarcinoma(117;1.35e-21)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00273)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0144)|READ - Rectum adenocarcinoma(331;0.0649) CGAAAGCCAAGAGAAGAGCTG 0.388 NaN 0 0 0 0.058154 0 8 39 C1orf168 199920 broad.mit.edu 37 1 57233546 57233546 + Missense_Mutation SNP G G A TCGA-DK-A1AB-01A-11D-A13W-08 TCGA-DK-A1AB-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f0fb2ba-0351-4ce0-8b74-31aa3deecae1 6bb1a3eb-1659-4df1-935d-f8b2d710ace4 g.chr1:57233546G>A uc001cym.3 - 5 1425 c.1019C>T c.(1018-1020)TCT>TTT p.S340F C1orf168_uc009vzu.1_RNA NM_001004303 NP_001004303 Q5VWT5 CA168_HUMAN hypothetical protein LOC199920 340 ovary(3)|skin(2) 5 GGAGTTGCCAGAGTGTCTCAG 0.368 NaN 0 0 0 0.0918 0 23 107 C1orf168 199920 broad.mit.edu 37 1 57233561 57233561 + Missense_Mutation SNP G G A TCGA-DK-A1AB-01A-11D-A13W-08 TCGA-DK-A1AB-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f0fb2ba-0351-4ce0-8b74-31aa3deecae1 6bb1a3eb-1659-4df1-935d-f8b2d710ace4 g.chr1:57233561G>A uc001cym.3 - 5 1410 c.1004C>T c.(1003-1005)TCA>TTA p.S335L C1orf168_uc009vzu.1_RNA NM_001004303 NP_001004303 Q5VWT5 CA168_HUMAN hypothetical protein LOC199920 335 ovary(3)|skin(2) 5 TCTCAGATATGAAATTGTTGC 0.353 NaN 0 0 0 0.108266 0 24 109 DIRAS3 9077 broad.mit.edu 37 1 68512369 68512369 + Silent SNP G G A TCGA-DK-A1AB-01A-11D-A13W-08 TCGA-DK-A1AB-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f0fb2ba-0351-4ce0-8b74-31aa3deecae1 6bb1a3eb-1659-4df1-935d-f8b2d710ace4 g.chr1:68512369G>A uc001ded.2 - 2 907 c.612C>T c.(610-612)ACC>ACT p.T204T uc001deb.1_Intron|uc001dec.1_Intron NM_004675 NP_004666 O95661 DIRA3_HUMAN DIRAS family, GTP-binding RAS-like 3 204 regulation of cyclin-dependent protein kinase activity|regulation of gene expression by genetic imprinting|small GTPase mediated signal transduction plasma membrane GTP binding|GTPase activity skin(1) 1 CCTGGAGGCCGGTGGTGGGCT 0.527 NaN 0 0 0 0.139131 0 51 120 SSX2IP 117178 broad.mit.edu 37 1 85127956 85127956 + Missense_Mutation SNP C C G TCGA-DK-A1AB-01A-11D-A13W-08 TCGA-DK-A1AB-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f0fb2ba-0351-4ce0-8b74-31aa3deecae1 6bb1a3eb-1659-4df1-935d-f8b2d710ace4 g.chr1:85127956C>G uc001dkh.2 - 9 1127 c.852G>C c.(850-852)ATG>ATC p.M284I SSX2IP_uc001dkf.2_Missense_Mutation_p.M257I|SSX2IP_uc001dkg.2_RNA|SSX2IP_uc010orz.1_Missense_Mutation_p.M257I|SSX2IP_uc001dki.2_Missense_Mutation_p.M284I|SSX2IP_uc010osa.1_Missense_Mutation_p.M257I|SSX2IP_uc001dkj.2_Missense_Mutation_p.M284I|SSX2IP_uc009wci.2_Intron|SSX2IP_uc001dkk.1_Missense_Mutation_p.M280I NM_014021 NP_054740 Q9Y2D8 ADIP_HUMAN synovial sarcoma, X breakpoint 2 interacting 284 Potential. cell adhesion nucleus|protein complex ovary(2) 2 all cancers(265;0.0053)|Epithelial(280;0.0214)|OV - Ovarian serous cystadenocarcinoma(397;0.173) TTTCCTTTTTCATTTGTTGAA 0.323 NaN 0 0 0 0.02938 0 7 231 TGFBR3 7049 broad.mit.edu 37 1 92185667 92185667 + Missense_Mutation SNP C C G TCGA-DK-A1AB-01A-11D-A13W-08 TCGA-DK-A1AB-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f0fb2ba-0351-4ce0-8b74-31aa3deecae1 6bb1a3eb-1659-4df1-935d-f8b2d710ace4 g.chr1:92185667C>G uc001doh.2 - 9 1662 c.1196G>C c.(1195-1197)GGA>GCA p.G399A TGFBR3_uc009wde.2_Missense_Mutation_p.G176A|TGFBR3_uc010osy.1_Missense_Mutation_p.G357A|TGFBR3_uc001doi.2_Missense_Mutation_p.G398A|TGFBR3_uc001doj.2_Missense_Mutation_p.G398A NM_003243 NP_003234 Q03167 TGBR3_HUMAN transforming growth factor, beta receptor III 399 Extracellular (Potential). BMP signaling pathway|cardiac epithelial to mesenchymal transition|cardiac muscle cell proliferation|cell growth|cell migration|definitive erythrocyte differentiation|heart trabecula formation|immune response|intracellular protein kinase cascade|liver development|negative regulation of cellular component movement|negative regulation of epithelial cell proliferation|palate development|pathway-restricted SMAD protein phosphorylation|response to follicle-stimulating hormone stimulus|response to luteinizing hormone stimulus|response to prostaglandin E stimulus|transforming growth factor beta receptor signaling pathway|ventricular cardiac muscle tissue morphogenesis external side of plasma membrane|extracellular space|inhibin-betaglycan-ActRII complex|integral to plasma membrane|intracellular membrane-bounded organelle coreceptor activity|heparin binding|PDZ domain binding|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type III|type II transforming growth factor beta receptor binding ovary(3) 3 all_lung(203;0.00719)|Lung NSC(277;0.0268) all cancers(265;0.0108)|Epithelial(280;0.0825) CGGAAGGCCTCCATTTTGGCC 0.582 NaN 0 0 0 0.116897 0 27 57 RTCD1 8634 broad.mit.edu 37 1 100732130 100732130 + Silent SNP C C T TCGA-DK-A1AB-01A-11D-A13W-08 TCGA-DK-A1AB-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f0fb2ba-0351-4ce0-8b74-31aa3deecae1 6bb1a3eb-1659-4df1-935d-f8b2d710ace4 g.chr1:100732130C>T uc001dtc.2 + 2 314 c.96C>T c.(94-96)CTC>CTT p.L32L RTCD1_uc010ouh.1_Silent_p.L32L|RTCD1_uc001dtd.2_Silent_p.L32L NM_003729 NP_003720 O00442 RTC1_HUMAN RNA terminal phosphate cyclase domain 1 isoform 32 RNA processing mitochondrion|nucleoplasm ATP binding|protein binding|RNA binding|RNA-3'-phosphate cyclase activity 0 all_epithelial(167;0.000686)|all_lung(203;0.0154)|Lung NSC(277;0.0155) Epithelial(280;0.0513)|all cancers(265;0.0902)|COAD - Colon adenocarcinoma(174;0.149)|Colorectal(144;0.169)|Lung(183;0.196) TCCTAGGCCTCCCCTTGCGGG 0.637 NaN 0 0 0 0.021553 0 5 13 ANKRD35 148741 broad.mit.edu 37 1 145558885 145558885 + Missense_Mutation SNP C C G TCGA-DK-A1AB-01A-11D-A13W-08 TCGA-DK-A1AB-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f0fb2ba-0351-4ce0-8b74-31aa3deecae1 6bb1a3eb-1659-4df1-935d-f8b2d710ace4 g.chr1:145558885C>G uc001eob.1 + 7 612 c.504C>G c.(502-504)ATC>ATG p.I168M NBPF10_uc001emp.3_Intron|ANKRD35_uc010oyx.1_Missense_Mutation_p.I11M NM_144698 NP_653299 Q8N283 ANR35_HUMAN ankyrin repeat domain 35 168 ANK 4. ovary(4)|skin(1) 5 all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786) ACGCAGCTATCTGCTCACAGC 0.572 NaN 0 0 0 0.0918 0 26 90 CGN 57530 broad.mit.edu 37 1 151491775 151491775 + Silent SNP C C T TCGA-DK-A1AB-01A-11D-A13W-08 TCGA-DK-A1AB-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f0fb2ba-0351-4ce0-8b74-31aa3deecae1 6bb1a3eb-1659-4df1-935d-f8b2d710ace4 g.chr1:151491775C>T uc009wmw.2 + 2 924 c.780C>T c.(778-780)CTC>CTT p.L260L NM_020770 NP_065821 Q9P2M7 CING_HUMAN cingulin 254 Interacts with ZO-2.|Head. myosin complex|tight junction actin binding|motor activity ovary(2)|pancreas(1) 3 Ovarian(49;0.0273)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185) LUSC - Lung squamous cell carcinoma(543;0.181) TGAGTCCTCTCAGTGGCTTTA 0.582 NaN 0 0 0 0.105934 0 13 40 ADAM15 8751 broad.mit.edu 37 1 155033250 155033250 + Missense_Mutation SNP C C T TCGA-DK-A1AB-01A-11D-A13W-08 TCGA-DK-A1AB-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f0fb2ba-0351-4ce0-8b74-31aa3deecae1 6bb1a3eb-1659-4df1-935d-f8b2d710ace4 g.chr1:155033250C>T uc001fgr.1 + 19 2320 c.2219C>T c.(2218-2220)TCT>TTT p.S740F EFNA3_uc010pew.1_5'Flank|ADAM15_uc001fgq.1_Missense_Mutation_p.S425F|ADAM15_uc010peu.1_Missense_Mutation_p.S757F|ADAM15_uc001fgt.1_Missense_Mutation_p.S740F|ADAM15_uc010pev.1_Missense_Mutation_p.S750F|ADAM15_uc001fgs.1_Intron|ADAM15_uc001fgu.1_Missense_Mutation_p.S740F|ADAM15_uc001fgw.1_Missense_Mutation_p.S740F|ADAM15_uc001fgv.1_Missense_Mutation_p.S740F|ADAM15_uc001fgx.1_Intron|ADAM15_uc001fgz.1_RNA|ADAM15_uc001fgy.1_RNA|ADAM15_uc001fha.1_RNA|ADAM15_uc001fhb.1_Missense_Mutation_p.S31F|EFNA4_uc001fhc.2_5'Flank|EFNA4_uc001fhd.2_5'Flank|EFNA4_uc001fhe.2_5'Flank NM_207197 NP_997080 Q13444 ADA15_HUMAN a disintegrin and metalloproteinase domain 15 740 Cytoplasmic (Potential). angiogenesis|cell-matrix adhesion|collagen catabolic process|proteolysis acrosomal vesicle|adherens junction|endomembrane system|flagellum|integral to membrane metalloendopeptidase activity|SH3 domain binding|zinc ion binding central_nervous_system(3)|skin(2)|ovary(1) 6 all_epithelial(22;1.43e-30)|all_lung(78;6.64e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877) BRCA - Breast invasive adenocarcinoma(34;0.000434) GCAGCCCAATCTGGTCCCTCT 0.602 NaN 0 0 0 0.038147 0 7 46 YY1AP1 55249 broad.mit.edu 37 1 155629585 155629585 + Missense_Mutation SNP C C T TCGA-DK-A1AB-01A-11D-A13W-08 TCGA-DK-A1AB-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f0fb2ba-0351-4ce0-8b74-31aa3deecae1 6bb1a3eb-1659-4df1-935d-f8b2d710ace4 g.chr1:155629585C>T uc001fln.2 - 11 2278 c.2254G>A c.(2254-2256)GAG>AAG p.E752K YY1AP1_uc001flg.2_Missense_Mutation_p.E491K|YY1AP1_uc010pgg.1_Missense_Mutation_p.E591K|YY1AP1_uc010pgh.1_Missense_Mutation_p.E695K|YY1AP1_uc010pgi.1_Missense_Mutation_p.E844K|YY1AP1_uc001flh.2_Missense_Mutation_p.E824K|YY1AP1_uc009wqt.2_Missense_Mutation_p.E675K|YY1AP1_uc001flk.2_Missense_Mutation_p.E695K|YY1AP1_uc001fll.2_Missense_Mutation_p.E706K|YY1AP1_uc009wqv.2_Missense_Mutation_p.E423K|YY1AP1_uc001flm.2_Missense_Mutation_p.E695K|YY1AP1_uc001fli.2_Missense_Mutation_p.E706K|YY1AP1_uc009wqu.2_Missense_Mutation_p.E539K|YY1AP1_uc001flj.2_Missense_Mutation_p.E686K|YY1AP1_uc009wqw.2_Missense_Mutation_p.E675K|YY1AP1_uc001flo.2_Missense_Mutation_p.E640K|YY1AP1_uc001flp.2_Missense_Mutation_p.E706K NM_139118 NP_620829 Q9H869 YYAP1_HUMAN YY1-associated protein isoform 2 752 regulation of cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus protein binding ovary(2)|skin(1) 3 Hepatocellular(266;0.0997)|all_hematologic(923;0.145) CTTCCCTCCTCTGTTTTCACA 0.537 NaN 0 0 0 0.134883 0 30 99 YY1AP1 55249 broad.mit.edu 37 1 155629592 155629592 + Silent SNP C C T TCGA-DK-A1AB-01A-11D-A13W-08 TCGA-DK-A1AB-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f0fb2ba-0351-4ce0-8b74-31aa3deecae1 6bb1a3eb-1659-4df1-935d-f8b2d710ace4 g.chr1:155629592C>T uc001fln.2 - 11 2271 c.2247G>A c.(2245-2247)GTG>GTA p.V749V YY1AP1_uc001flg.2_Silent_p.V488V|YY1AP1_uc010pgg.1_Silent_p.V588V|YY1AP1_uc010pgh.1_Silent_p.V692V|YY1AP1_uc010pgi.1_Silent_p.V841V|YY1AP1_uc001flh.2_Silent_p.V821V|YY1AP1_uc009wqt.2_Silent_p.V672V|YY1AP1_uc001flk.2_Silent_p.V692V|YY1AP1_uc001fll.2_Silent_p.V703V|YY1AP1_uc009wqv.2_Silent_p.V420V|YY1AP1_uc001flm.2_Silent_p.V692V|YY1AP1_uc001fli.2_Silent_p.V703V|YY1AP1_uc009wqu.2_Silent_p.V536V|YY1AP1_uc001flj.2_Silent_p.V683V|YY1AP1_uc009wqw.2_Silent_p.V672V|YY1AP1_uc001flo.2_Silent_p.V637V|YY1AP1_uc001flp.2_Silent_p.V703V NM_139118 NP_620829 Q9H869 YYAP1_HUMAN YY1-associated protein isoform 2 749 regulation of cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus protein binding ovary(2)|skin(1) 3 Hepatocellular(266;0.0997)|all_hematologic(923;0.145) CCTCTGTTTTCACAACGGTCC 0.527 NaN 0 0 0 0.144211 0 30 106 TMEM79 84283 broad.mit.edu 37 1 156261349 156261349 + Missense_Mutation SNP C C T TCGA-DK-A1AB-01A-11D-A13W-08 TCGA-DK-A1AB-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f0fb2ba-0351-4ce0-8b74-31aa3deecae1 6bb1a3eb-1659-4df1-935d-f8b2d710ace4 g.chr1:156261349C>T uc010phi.1 + 4 1341 c.1145C>T c.(1144-1146)GCC>GTC p.A382V TMEM79_uc001fod.2_Missense_Mutation_p.A223V|TMEM79_uc009wrw.2_Missense_Mutation_p.A382V|C1orf85_uc001fof.3_Intron|C1orf85_uc001fog.1_Intron NM_032323 NP_115699 Q9BSE2 TMM79_HUMAN transmembrane protein 79 382 integral to membrane central_nervous_system(1) 1 Hepatocellular(266;0.158) CCGGACCACGCCCGCTCGGCC 0.657 NaN 0 0 0 0.043863 0 7 37 ARHGEF11 9826 broad.mit.edu 37 1 156948001 156948001 + Missense_Mutation SNP G G C TCGA-DK-A1AB-01A-11D-A13W-08 TCGA-DK-A1AB-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f0fb2ba-0351-4ce0-8b74-31aa3deecae1 6bb1a3eb-1659-4df1-935d-f8b2d710ace4 g.chr1:156948001G>C uc001fqo.2 - 6 1545 c.505C>G c.(505-507)CTG>GTG p.L169V ARHGEF11_uc001fqn.2_Missense_Mutation_p.L169V NM_014784 NP_055599 O15085 ARHGB_HUMAN Rho guanine nucleotide exchange factor (GEF) 11 169 actin cytoskeleton organization|apoptosis|axon guidance|cellular component movement|cytokinesis|establishment of cell polarity|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cell growth|regulation of Rho protein signal transduction|Rho protein signal transduction|striated muscle contraction cytosol|Golgi apparatus|plasma membrane G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|signal transducer activity ovary(3)|skin(2)|pleura(1)|lung(1)|kidney(1)|pancreas(1) 9 all_hematologic(923;0.0839)|Hepatocellular(266;0.158) ATTACCTGCAGAGGTTTGGGT 0.552 NaN 0 0 0 0.11911 0 13 30 OR10X1 128367 broad.mit.edu 37 1 158549553 158549553 + Missense_Mutation SNP A A G TCGA-DK-A1AB-01A-11D-A13W-08 TCGA-DK-A1AB-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f0fb2ba-0351-4ce0-8b74-31aa3deecae1 6bb1a3eb-1659-4df1-935d-f8b2d710ace4 g.chr1:158549553A>G uc010pin.1 - 1 137 c.137T>C c.(136-138)GTC>GCC p.V46A NM_001004477 NP_001004477 Q8NGY0 O10X1_HUMAN olfactory receptor, family 10, subfamily X, 46 Helical; Name=1; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 all_hematologic(112;0.0378) ACAAAAGAAGACCACAAAAAG 0.433 NaN 0 0 0 0.11126 0 37 108 PPOX 5498 broad.mit.edu 37 1 161138959 161138959 + Missense_Mutation SNP G G C TCGA-DK-A1AB-01A-11D-A13W-08 TCGA-DK-A1AB-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f0fb2ba-0351-4ce0-8b74-31aa3deecae1 6bb1a3eb-1659-4df1-935d-f8b2d710ace4 g.chr1:161138959G>C uc001fyj.2 + 7 1083 c.793G>C c.(793-795)GAA>CAA p.E265Q PPOX_uc001fyn.2_Intron|PPOX_uc001fyg.2_Missense_Mutation_p.E265Q|PPOX_uc001fyl.2_Missense_Mutation_p.E231Q|PPOX_uc001fym.2_RNA|PPOX_uc001fyk.2_Missense_Mutation_p.E103Q|PPOX_uc001fyh.2_Missense_Mutation_p.E103Q|PPOX_uc010pkg.1_Missense_Mutation_p.E103Q|PPOX_uc009wuc.1_Missense_Mutation_p.E103Q|PPOX_uc010pkh.1_Intron|PPOX_uc001fyi.2_Missense_Mutation_p.E103Q NM_001122764 NP_001116236 P50336 PPOX_HUMAN protoporphyrinogen oxidase 265 heme biosynthetic process intrinsic to mitochondrial inner membrane|mitochondrial intermembrane space flavin adenine dinucleotide binding|oxygen-dependent protoporphyrinogen oxidase activity ovary(1) 1 all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00275) CCTCCAGGCAGAAGGGCGCTG 0.567 NaN Porphyria_Variegata 0 0 0 0.038395 0 16 41 DCAF6 55827 broad.mit.edu 37 1 168014277 168014277 + Silent SNP G G A TCGA-DK-A1AB-01A-11D-A13W-08 TCGA-DK-A1AB-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f0fb2ba-0351-4ce0-8b74-31aa3deecae1 6bb1a3eb-1659-4df1-935d-f8b2d710ace4 g.chr1:168014277G>A uc001gew.2 + 14 2081 c.1839G>A c.(1837-1839)CAG>CAA p.Q613Q DCAF6_uc001gev.2_Silent_p.Q633Q|DCAF6_uc001gex.2_Silent_p.Q690Q|DCAF6_uc010plk.1_Silent_p.Q659Q|DCAF6_uc001gey.2_Silent_p.Q486Q|DCAF6_uc001gez.2_5'UTR NM_001017977 NP_001017977 Q58WW2 DCAF6_HUMAN IQ motif and WD repeats 1 isoform b 613 positive regulation of transcription from RNA polymerase II promoter CUL4 RING ubiquitin ligase complex|nucleus ligand-dependent nuclear receptor transcription coactivator activity ovary(1)|central_nervous_system(1)|skin(1) 3 CTTCAGATCAGACTAGCACTG 0.453 NaN 0 0 0 0.069456 0 37 90 SCYL3 57147 broad.mit.edu 37 1 169839492 169839492 + Missense_Mutation SNP C C G TCGA-DK-A1AB-01A-11D-A13W-08 TCGA-DK-A1AB-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f0fb2ba-0351-4ce0-8b74-31aa3deecae1 6bb1a3eb-1659-4df1-935d-f8b2d710ace4 g.chr1:169839492C>G uc001ggs.2 - 6 727 c.529G>C c.(529-531)GAA>CAA p.E177Q SCYL3_uc010plw.1_5'UTR|SCYL3_uc001ggt.2_Missense_Mutation_p.E177Q|SCYL3_uc001ggu.2_RNA NM_181093 NP_851607 Q8IZE3 PACE1_HUMAN SCY1-like 3 isoform 2 177 Protein kinase. cell migration Golgi apparatus|lamellipodium ATP binding|protein binding|protein kinase activity ovary(1)|skin(1) 2 all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181) GTTGTGAATTCTGGAGACTAA 0.398 NaN 0 0 0 0.0918 0 24 69 C1orf25 81627 broad.mit.edu 37 1 185112497 185112497 + Missense_Mutation SNP C C G TCGA-DK-A1AB-01A-11D-A13W-08 TCGA-DK-A1AB-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f0fb2ba-0351-4ce0-8b74-31aa3deecae1 6bb1a3eb-1659-4df1-935d-f8b2d710ace4 g.chr1:185112497C>G uc001grf.3 - 7 1123 c.851G>C c.(850-852)GGA>GCA p.G284A C1orf25_uc010pon.1_Missense_Mutation_p.G128A NM_030934 NP_112196 Q7Z2T5 TRM1L_HUMAN N2,N2-dimethylguanosine tRNA 284 intracellular RNA binding|tRNA (guanine-N2-)-methyltransferase activity|zinc ion binding 0 ACCAGTGGCTCCAAAAGCATC 0.338 NaN 0 0 0 0.050027 0 29 122 RPS6KC1 26750 broad.mit.edu 37 1 213303065 213303065 + Missense_Mutation SNP G G A TCGA-DK-A1AB-01A-11D-A13W-08 TCGA-DK-A1AB-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f0fb2ba-0351-4ce0-8b74-31aa3deecae1 6bb1a3eb-1659-4df1-935d-f8b2d710ace4 g.chr1:213303065G>A uc010ptr.1 + 6 827 c.668G>A c.(667-669)CGT>CAT p.R223H RPS6KC1_uc001hkd.2_Missense_Mutation_p.R211H|RPS6KC1_uc010pts.1_Missense_Mutation_p.R42H|RPS6KC1_uc010ptt.1_Missense_Mutation_p.R42H|RPS6KC1_uc010ptu.1_Missense_Mutation_p.R42H|RPS6KC1_uc010ptv.1_5'UTR|RPS6KC1_uc001hke.2_Missense_Mutation_p.R42H NM_012424 NP_036556 Q96S38 KS6C1_HUMAN ribosomal protein S6 kinase, 52kDa, polypeptide 223 cell communication|signal transduction early endosome|membrane ATP binding|phosphatidylinositol binding|protein binding|protein serine/threonine kinase activity lung(4)|ovary(3)|breast(1) 8 OV - Ovarian serous cystadenocarcinoma(81;0.00705)|all cancers(67;0.016)|GBM - Glioblastoma multiforme(131;0.0663)|Epithelial(68;0.145) CGGGAAAGTCGTAGCCTCTTT 0.413 NaN 0 0 0 0.045705 0 30 74 SPATA17 128153 broad.mit.edu 37 1 217975148 217975148 + Missense_Mutation SNP G G C TCGA-DK-A1AB-01A-11D-A13W-08 TCGA-DK-A1AB-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f0fb2ba-0351-4ce0-8b74-31aa3deecae1 6bb1a3eb-1659-4df1-935d-f8b2d710ace4 g.chr1:217975148G>C uc001hlh.1 + 9 987 c.961G>C c.(961-963)GAA>CAA p.E321Q SPATA17_uc001hli.2_Missense_Mutation_p.E321Q NM_138796 NP_620151 Q96L03 SPT17_HUMAN spermatogenesis associated 17 321 cytoplasm calmodulin binding pancreas(1) 1 OV - Ovarian serous cystadenocarcinoma(81;0.0516)|all cancers(67;0.0891)|GBM - Glioblastoma multiforme(131;0.117) TTCTTACAAAGAACAATTCCG 0.294 NaN 0 0 0 0.09319 0 13 51 URB2 9816 broad.mit.edu 37 1 229773838 229773838 + Nonsense_Mutation SNP C C T TCGA-DK-A1AB-01A-11D-A13W-08 TCGA-DK-A1AB-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f0fb2ba-0351-4ce0-8b74-31aa3deecae1 6bb1a3eb-1659-4df1-935d-f8b2d710ace4 g.chr1:229773838C>T uc001hts.1 + 4 3614 c.3478C>T c.(3478-3480)CAG>TAG p.Q1160* URB2_uc009xfd.1_Nonsense_Mutation_p.Q1160* NM_014777 NP_055592 Q14146 URB2_HUMAN URB2 ribosome biogenesis 2 homolog 1160 nucleolus central_nervous_system(2)|ovary(1) 3 TGTTTACTCTCAGATACTGTT 0.552 NaN 0 0 0 0.134883 0 30 61 URB2 9816 broad.mit.edu 37 1 229773864 229773864 + Silent SNP C C T rs114023508 byFrequency TCGA-DK-A1AB-01A-11D-A13W-08 TCGA-DK-A1AB-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f0fb2ba-0351-4ce0-8b74-31aa3deecae1 6bb1a3eb-1659-4df1-935d-f8b2d710ace4 g.chr1:229773864C>T uc001hts.1 + 4 3640 c.3504C>T c.(3502-3504)CTC>CTT p.L1168L URB2_uc009xfd.1_Silent_p.L1168L NM_014777 NP_055592 Q14146 URB2_HUMAN URB2 ribosome biogenesis 2 homolog 1168 nucleolus central_nervous_system(2)|ovary(1) 3 TGCCAGCTCTCGCGGGACATG 0.527 NaN 0 0 0 0.064281 0 35 64 COG2 22796 broad.mit.edu 37 1 230810788 230810788 + Missense_Mutation SNP C C T TCGA-DK-A1AB-01A-11D-A13W-08 TCGA-DK-A1AB-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f0fb2ba-0351-4ce0-8b74-31aa3deecae1 6bb1a3eb-1659-4df1-935d-f8b2d710ace4 g.chr1:230810788C>T uc001htw.2 + 9 1095 c.944C>T c.(943-945)TCT>TTT p.S315F COG2_uc001htx.2_Missense_Mutation_p.S315F|COG2_uc010pwc.1_Missense_Mutation_p.S188F NM_007357 NP_031383 Q14746 COG2_HUMAN component of oligomeric golgi complex 2 isoform 315 Golgi organization|intra-Golgi vesicle-mediated transport|intracellular protein transport|oligosaccharide biosynthetic process|protein glycosylation Golgi membrane|Golgi stack|Golgi transport complex protein binding|protein transporter activity 0 Breast(184;0.0871)|Ovarian(103;0.183) Prostate(94;0.178) TTGGTGAATTCTGTTTGGCCA 0.393 NaN 0 0 0 0.11126 0 43 134 PCNXL2 80003 broad.mit.edu 37 1 233394101 233394101 + Missense_Mutation SNP C C T TCGA-DK-A1AB-01A-11D-A13W-08 TCGA-DK-A1AB-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f0fb2ba-0351-4ce0-8b74-31aa3deecae1 6bb1a3eb-1659-4df1-935d-f8b2d710ace4 g.chr1:233394101C>T uc001hvl.2 - 5 1742 c.1507G>A c.(1507-1509)GAG>AAG p.E503K PCNXL2_uc009xfu.2_RNA|PCNXL2_uc009xfv.1_RNA NM_014801 NP_055616 A6NKB5 PCX2_HUMAN pecanex-like 2 503 integral to membrane central_nervous_system(1)|pancreas(1) 2 all_cancers(173;0.0347)|Prostate(94;0.137) ACCTTAGACTCGGAGCCTGTA 0.562 NaN 0 0 0 0.043863 0 18 57 EXO1 9156 broad.mit.edu 37 1 242048726 242048726 + Silent SNP G G A TCGA-DK-A1AB-01A-11D-A13W-08 TCGA-DK-A1AB-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f0fb2ba-0351-4ce0-8b74-31aa3deecae1 6bb1a3eb-1659-4df1-935d-f8b2d710ace4 g.chr1:242048726G>A uc001hzh.2 + 15 2862 c.2322G>A c.(2320-2322)CAG>CAA p.Q774Q EXO1_uc001hzi.2_Silent_p.Q774Q|EXO1_uc001hzj.2_Silent_p.Q774Q|EXO1_uc009xgq.2_Silent_p.Q773Q NM_130398 NP_569082 Q9UQ84 EXO1_HUMAN exonuclease 1 isoform b 774 Interaction with MSH2. meiosis|mismatch repair nucleus double-stranded DNA specific 5'-3' exodeoxyribonuclease activity|flap endonuclease activity|metal ion binding|protein binding|protein binding|ribonuclease H activity|single-stranded DNA specific 5'-3' exodeoxyribonuclease activity ovary(2)|lung(2)|skin(1) 5 Ovarian(103;0.103) all_cancers(173;0.0555) OV - Ovarian serous cystadenocarcinoma(106;0.0107) CAAGCATCCAGAAGAGAAAGC 0.453 NaN Direct_reversal_of_damage|Editing_and_processing_nucleases 0 0 0 0.049695 0 19 53 OR2T6 254879 broad.mit.edu 37 1 248551413 248551413 + Missense_Mutation SNP C C G TCGA-DK-A1AB-01A-11D-A13W-08 TCGA-DK-A1AB-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f0fb2ba-0351-4ce0-8b74-31aa3deecae1 6bb1a3eb-1659-4df1-935d-f8b2d710ace4 g.chr1:248551413C>G uc001iei.1 + 1 504 c.504C>G c.(502-504)TTC>TTG p.F168L NM_001005471 NP_001005471 Q8NHC8 OR2T6_HUMAN olfactory receptor, family 2, subfamily T, 168 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|skin(1) 3 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0265) GTCTCCCGTTCTGTGCCTCTC 0.532 NaN 0 0 0 0.09319 0 13 35 VIM 7431 broad.mit.edu 37 10 17277345 17277345 + Missense_Mutation SNP G G C TCGA-DK-A1AB-01A-11D-A13W-08 TCGA-DK-A1AB-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f0fb2ba-0351-4ce0-8b74-31aa3deecae1 6bb1a3eb-1659-4df1-935d-f8b2d710ace4 g.chr10:17277345G>C uc001iou.2 + 7 1599 c.1186G>C c.(1186-1188)GAG>CAG p.E396Q VIM_uc001iov.1_Missense_Mutation_p.E396Q|VIM_uc001iow.1_RNA|VIM_uc001iox.1_Missense_Mutation_p.E396Q|VIM_uc001ioy.1_Intron|VIM_uc001ioz.1_RNA|VIM_uc001ipb.1_RNA|VIM_uc009xjv.1_Missense_Mutation_p.E354Q|VIM_uc001ipc.1_Missense_Mutation_p.E396Q NM_003380 NP_003371 P08670 VIME_HUMAN vimentin 396 Rod.|Coil 2. cellular component disassembly involved in apoptosis|cellular component movement|interspecies interaction between organisms|muscle filament sliding cytosol|intermediate filament protein C-terminus binding|structural constituent of cytoskeleton large_intestine(1)|lung(1)|ovary(1)|pancreas(1) 4 CCTTGACATTGAGATTGCCAC 0.458 NaN 0 0 0 0.11911 0 14 56 NEBL 10529 broad.mit.edu 37 10 21117520 21117520 + Missense_Mutation SNP G G A TCGA-DK-A1AB-01A-11D-A13W-08 TCGA-DK-A1AB-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f0fb2ba-0351-4ce0-8b74-31aa3deecae1 6bb1a3eb-1659-4df1-935d-f8b2d710ace4 g.chr10:21117520G>A uc001iqi.2 - 17 2112 c.1715C>T c.(1714-1716)TCT>TTT p.S572F NEBL_uc001iqj.2_RNA|NEBL_uc001iqk.2_Intron|NEBL_uc001iql.1_RNA NM_006393 NP_006384 O76041 NEBL_HUMAN nebulette sarcomeric isoform 572 Nebulin 16. regulation of actin filament length actin binding|structural constituent of muscle ovary(2) 2 TGCTATGGTAGAATAGTTAGA 0.338 NaN 0 0 0 0.080935 0 12 51 MASTL 84930 broad.mit.edu 37 10 27459817 27459817 + Silent SNP G G A TCGA-DK-A1AB-01A-11D-A13W-08 TCGA-DK-A1AB-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f0fb2ba-0351-4ce0-8b74-31aa3deecae1 6bb1a3eb-1659-4df1-935d-f8b2d710ace4 g.chr10:27459817G>A uc001itm.2 + 8 2568 c.1929G>A c.(1927-1929)CTG>CTA p.L643L MASTL_uc001itl.2_Silent_p.L643L|MASTL_uc009xkw.1_Silent_p.L643L|MASTL_uc009xkx.1_RNA NM_032844 NP_116233 Q96GX5 GWL_HUMAN microtubule associated serine/threonine 643 Protein kinase. cell division|G2/M transition of mitotic cell cycle|mitosis|negative regulation of protein phosphatase type 2A activity|regulation of cell cycle|response to DNA damage stimulus centrosome|cleavage furrow|nucleus ATP binding|protein phosphatase 2A binding|protein serine/threonine kinase activity stomach(1)|ovary(1)|lung(1) 3 TGGAGGTGCTGAAAACGTTAG 0.398 NaN 0 0 0 0.108266 0 28 84 ARMC4 55130 broad.mit.edu 37 10 28273125 28273125 + Missense_Mutation SNP C C G TCGA-DK-A1AB-01A-11D-A13W-08 TCGA-DK-A1AB-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f0fb2ba-0351-4ce0-8b74-31aa3deecae1 6bb1a3eb-1659-4df1-935d-f8b2d710ace4 g.chr10:28273125C>G uc009xky.2 - 5 768 c.670G>C c.(670-672)GAA>CAA p.E224Q ARMC4_uc010qds.1_5'Flank|ARMC4_uc010qdt.1_5'Flank|ARMC4_uc001itz.2_Missense_Mutation_p.E224Q|ARMC4_uc010qdu.1_5'Flank NM_018076 NP_060546 Q5T2S8 ARMC4_HUMAN armadillo repeat containing 4 224 binding ovary(4)|skin(2) 6 GAGGTATATTCAATAGATTCC 0.328 NaN 0 0 0 0.069234 0 10 164 ANKRD30A 91074 broad.mit.edu 37 10 37478443 37478443 + Missense_Mutation SNP A A G TCGA-DK-A1AB-01A-11D-A13W-08 TCGA-DK-A1AB-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f0fb2ba-0351-4ce0-8b74-31aa3deecae1 6bb1a3eb-1659-4df1-935d-f8b2d710ace4 g.chr10:37478443A>G uc001iza.1 + 25 2401 c.2302A>G c.(2302-2304)ACG>GCG p.T768A NM_052997 NP_443723 Q9BXX3 AN30A_HUMAN ankyrin repeat domain 30A 824 nucleus DNA binding|sequence-specific DNA binding transcription factor activity ovary(7)|breast(1)|skin(1) 9 ACCCAAGGCTACGCATCAAAA 0.289 NaN 0 0 0 0.115264 0 3 53 ZNF485 220992 broad.mit.edu 37 10 44112076 44112076 + Silent SNP G G A TCGA-DK-A1AB-01A-11D-A13W-08 TCGA-DK-A1AB-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f0fb2ba-0351-4ce0-8b74-31aa3deecae1 6bb1a3eb-1659-4df1-935d-f8b2d710ace4 g.chr10:44112076G>A uc010qfc.1 + 5 779 c.585G>A c.(583-585)CTG>CTA p.L195L ZNF485_uc010qfd.1_Silent_p.L104L NM_145312 NP_660355 Q8NCK3 ZN485_HUMAN zinc finger protein 485 195 C2H2-type 3. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 GGAAGTTCCTGAAGAAGCACT 0.393 NaN 0 0 0 0.144211 0 31 90 ARID5B 84159 broad.mit.edu 37 10 63852251 63852251 + Missense_Mutation SNP G G A rs137983907 TCGA-DK-A1AB-01A-11D-A13W-08 TCGA-DK-A1AB-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f0fb2ba-0351-4ce0-8b74-31aa3deecae1 6bb1a3eb-1659-4df1-935d-f8b2d710ace4 g.chr10:63852251G>A uc001jlt.1 + 10 3055 c.3029G>A c.(3028-3030)CGG>CAG p.R1010Q NM_032199 NP_115575 Q14865 ARI5B_HUMAN AT rich interactive domain 5B (MRF1-like) 1010 liver development|negative regulation of transcription, DNA-dependent|positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent protein binding|transcription regulatory region DNA binding ovary(2)|upper_aerodigestive_tract(1)|kidney(1) 4 Prostate(12;0.016)|all_hematologic(501;0.215) GGGGCGGCGCGGCCGATCAAG 0.567 NaN 0 0 0 0.116897 0 23 77 NDST2 8509 broad.mit.edu 37 10 75568098 75568098 + Missense_Mutation SNP G G A TCGA-DK-A1AB-01A-11D-A13W-08 TCGA-DK-A1AB-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f0fb2ba-0351-4ce0-8b74-31aa3deecae1 6bb1a3eb-1659-4df1-935d-f8b2d710ace4 g.chr10:75568098G>A uc001jvk.2 - 3 853 c.49C>T c.(49-51)CAC>TAC p.H17Y NDST2_uc010qks.1_5'Flank|NDST2_uc010qkt.1_Intron|NDST2_uc009xro.2_5'Flank|NDST2_uc010qku.1_5'Flank NM_003635 NP_003626 P52849 NDST2_HUMAN heparan glucosaminyl 17 Cytoplasmic (Potential). Golgi membrane|integral to membrane [heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity ovary(1) 1 Prostate(51;0.0112) ATGAGGCGGTGCAGTTCCAGC 0.622 NaN 0 0 0 0.115264 0 3 4 HTR7 3363 broad.mit.edu 37 10 92617282 92617282 + Silent SNP C C G TCGA-DK-A1AB-01A-11D-A13W-08 TCGA-DK-A1AB-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f0fb2ba-0351-4ce0-8b74-31aa3deecae1 6bb1a3eb-1659-4df1-935d-f8b2d710ace4 g.chr10:92617282C>G uc001kha.2 - 1 390 c.147G>C c.(145-147)CTG>CTC p.L49L HTR7_uc001kgz.2_Silent_p.L49L|HTR7_uc001khb.2_Silent_p.L49L NM_019859 NP_062873 P34969 5HT7R_HUMAN 5-hydroxytryptamine receptor 7 isoform d 49 Extracellular (By similarity). blood circulation|circadian rhythm integral to plasma membrane protein binding|serotonin receptor activity ovary(1) 1 Eletriptan(DB00216)|Methysergide(DB00247)|Ziprasidone(DB00246) TCACCTCGCTCAGCAGGTGCG 0.701 NaN 0 0 0 0.021553 0 6 11 CCDC147 159686 broad.mit.edu 37 10 106209909 106209909 + Silent SNP C C G TCGA-DK-A1AB-01A-11D-A13W-08 TCGA-DK-A1AB-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f0fb2ba-0351-4ce0-8b74-31aa3deecae1 6bb1a3eb-1659-4df1-935d-f8b2d710ace4 g.chr10:106209909C>G uc001kyh.2 + 17 2591 c.2457C>G c.(2455-2457)CTC>CTG p.L819L NM_001008723 NP_001008723 Q5T655 CC147_HUMAN coiled-coil domain containing 147 819 Potential. ovary(2)|central_nervous_system(2)|skin(1) 5 Colorectal(252;0.103)|Breast(234;0.122) Epithelial(162;7.55e-10)|all cancers(201;3.37e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0189) CCAATGAGCTCCAGAATTTAA 0.328 NaN 0 0 0 0.139131 0 53 127 ATE1 11101 broad.mit.edu 37 10 123673374 123673374 + Missense_Mutation SNP G G C TCGA-DK-A1AB-01A-11D-A13W-08 TCGA-DK-A1AB-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f0fb2ba-0351-4ce0-8b74-31aa3deecae1 6bb1a3eb-1659-4df1-935d-f8b2d710ace4 g.chr10:123673374G>C uc001lfp.2 - 4 350 c.268C>G c.(268-270)CAC>GAC p.H90D ATE1_uc001lfq.2_Missense_Mutation_p.H90D|ATE1_uc010qtr.1_Intron|ATE1_uc010qts.1_5'UTR|ATE1_uc010qtt.1_Missense_Mutation_p.H83D|ATE1_uc001lfr.2_5'UTR|ATE1_uc009xzu.2_Intron NM_007041 NP_008972 O95260 ATE1_HUMAN arginyltransferase 1 isoform 2 90 protein arginylation cytoplasm|nucleus acyltransferase activity|arginyltransferase activity 0 all_neural(114;0.061)|Lung NSC(174;0.095)|all_lung(145;0.124)|Breast(234;0.212) ACCTTCTTGTGAGATTTTGAA 0.363 NaN 0 0 0 0.049695 0 21 46 NAV2 89797 broad.mit.edu 37 11 19955347 19955347 + Silent SNP G G A TCGA-DK-A1AB-01A-11D-A13W-08 TCGA-DK-A1AB-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f0fb2ba-0351-4ce0-8b74-31aa3deecae1 6bb1a3eb-1659-4df1-935d-f8b2d710ace4 g.chr11:19955347G>A uc010rdm.1 + 8 1987 c.1626G>A c.(1624-1626)GAG>GAA p.E542E NAV2_uc001mpp.2_Silent_p.E455E|NAV2_uc001mpr.3_Silent_p.E519E NM_145117 NP_660093 Q8IVL1 NAV2_HUMAN neuron navigator 2 isoform 2 542 nucleus ATP binding|helicase activity skin(4)|ovary(1)|pancreas(1) 6 TCAAGGAGGAGCCAAAAGAAG 0.423 NaN 0 0 0 0.076483 0 23 32 OR5W2 390148 broad.mit.edu 37 11 55681643 55681643 + Missense_Mutation SNP C C G rs12786096 TCGA-DK-A1AB-01A-11D-A13W-08 TCGA-DK-A1AB-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f0fb2ba-0351-4ce0-8b74-31aa3deecae1 6bb1a3eb-1659-4df1-935d-f8b2d710ace4 g.chr11:55681643C>G uc010rir.1 - 1 416 c.416G>C c.(415-417)AGA>ACA p.R139T NM_001001960 NP_001001960 Q8NH69 OR5W2_HUMAN olfactory receptor, family 5, subfamily W, 139 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|skin(1) 2 ATAGCACACTCTGCTAGACAT 0.468 NaN 0 0 0 0.043863 0 20 46 OR4D10 390197 broad.mit.edu 37 11 59245789 59245789 + Nonsense_Mutation SNP C C G TCGA-DK-A1AB-01A-11D-A13W-08 TCGA-DK-A1AB-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f0fb2ba-0351-4ce0-8b74-31aa3deecae1 6bb1a3eb-1659-4df1-935d-f8b2d710ace4 g.chr11:59245789C>G uc001nnz.1 + 1 887 c.887C>G c.(886-888)TCA>TGA p.S296* NM_001004705 NP_001004705 Q8NGI6 OR4DA_HUMAN olfactory receptor, family 4, subfamily D, 296 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|skin(1) 3 GAGATGAAGTCAGCCATGAGG 0.368 NaN 0 0 0 0.047766 0 9 31 C11orf66 220004 broad.mit.edu 37 11 61254053 61254053 + Nonsense_Mutation SNP C C T TCGA-DK-A1AB-01A-11D-A13W-08 TCGA-DK-A1AB-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f0fb2ba-0351-4ce0-8b74-31aa3deecae1 6bb1a3eb-1659-4df1-935d-f8b2d710ace4 g.chr11:61254053C>T uc001nru.1 + 9 930 c.805C>T c.(805-807)CGA>TGA p.R269* C11orf66_uc009ynq.1_Nonsense_Mutation_p.R249* NM_145017 NP_659454 Q7Z5V6 CK066_HUMAN IIIG9 protein 269 ovary(1) 1 AGCCTTCAGCCGAGGGAATGA 0.577 NaN 0 0 0 0.014758 0 4 14 POLA2 23649 broad.mit.edu 37 11 65034149 65034149 + Missense_Mutation SNP C C T TCGA-DK-A1AB-01A-11D-A13W-08 TCGA-DK-A1AB-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f0fb2ba-0351-4ce0-8b74-31aa3deecae1 6bb1a3eb-1659-4df1-935d-f8b2d710ace4 g.chr11:65034149C>T uc001odj.2 + 2 518 c.176C>T c.(175-177)TCA>TTA p.S59L POLA2_uc009yqf.1_Missense_Mutation_p.S59L|POLA2_uc010rod.1_Intron NM_002689 NP_002680 Q14181 DPOA2_HUMAN DNA-directed DNA polymerase alpha 2 59 DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication nucleoplasm DNA binding 0 Dacarbazine(DB00851) GGCCTTACCTCAGAGATCCTG 0.383 NaN 0 0 0 0.038395 0 18 25 FGF3 2248 broad.mit.edu 37 11 69625371 69625371 + Missense_Mutation SNP G G C TCGA-DK-A1AB-01A-11D-A13W-08 TCGA-DK-A1AB-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f0fb2ba-0351-4ce0-8b74-31aa3deecae1 6bb1a3eb-1659-4df1-935d-f8b2d710ace4 g.chr11:69625371G>C uc001oph.2 - 3 913 c.422C>G c.(421-423)CCT>CGT p.P141R NM_005247 NP_005238 P11487 FGF3_HUMAN fibroblast growth factor 3 precursor 141 fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|negative regulation of cardiac muscle tissue development|positive regulation of cell division|positive regulation of cell proliferation extracellular region growth factor activity ovary(1)|lung(1) 2 LUSC - Lung squamous cell carcinoma(11;5.05e-15)|STAD - Stomach adenocarcinoma(18;0.0278) GCGGGCCCCAGGCGTACTAGA 0.657 NaN 0 0 0 0.105934 0 14 9 SHANK2 22941 broad.mit.edu 37 11 70507825 70507825 + Silent SNP C C T TCGA-DK-A1AB-01A-11D-A13W-08 TCGA-DK-A1AB-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f0fb2ba-0351-4ce0-8b74-31aa3deecae1 6bb1a3eb-1659-4df1-935d-f8b2d710ace4 g.chr11:70507825C>T uc010rqn.1 - 1 99 c.48G>A c.(46-48)ACG>ACA p.T16T SHANK2_uc001opz.2_Silent_p.T16T|SHANK2_uc001oqc.2_Intron|uc009ysn.1_Missense_Mutation_p.P88L|SHANK2_uc010rqp.1_Silent_p.T16T NM_133266 NP_573573 Q9UPX8 SHAN2_HUMAN SH3 and multiple ankyrin repeat domains 2 Error:Variant_position_missing_in_Q9UPX8_after_alignment intracellular signal transduction cell junction|cytoplasm|postsynaptic density|postsynaptic membrane GKAP/Homer scaffold activity|ionotropic glutamate receptor binding|SH3 domain binding ovary(2)|pancreas(1)|central_nervous_system(1)|skin(1) 5 LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071) TATTGTAGCCCGTCATCATCA 0.542 NaN 0 0 0 0.134883 0 28 96 CLPB 81570 broad.mit.edu 37 11 72145375 72145375 + Silent SNP C C G TCGA-DK-A1AB-01A-11D-A13W-08 TCGA-DK-A1AB-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f0fb2ba-0351-4ce0-8b74-31aa3deecae1 6bb1a3eb-1659-4df1-935d-f8b2d710ace4 g.chr11:72145375C>G uc001osj.2 - 1 194 c.144G>C c.(142-144)CTG>CTC p.L48L CLPB_uc010rqx.1_5'UTR|CLPB_uc010rqy.1_Silent_p.L48L|CLPB_uc001osk.2_Silent_p.L48L|CLPB_uc009ytg.2_RNA|CLPB_uc010rqz.1_5'UTR NM_030813 NP_110440 Q9H078 CLPB_HUMAN caseinolytic peptidase B 48 cellular response to heat ATP binding|nucleoside-triphosphatase activity|protein binding pancreas(1) 1 TGGCTACCCTCAGCCACTGCG 0.692 NaN OREG0021194 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 0 0 0 0.132662 0 13 9 RAD52 5893 broad.mit.edu 37 12 1025522 1025522 + Missense_Mutation SNP C C G TCGA-DK-A1AB-01A-11D-A13W-08 TCGA-DK-A1AB-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f0fb2ba-0351-4ce0-8b74-31aa3deecae1 6bb1a3eb-1659-4df1-935d-f8b2d710ace4 g.chr12:1025522C>G uc001qis.1 - 9 967 c.853G>C c.(853-855)GAG>CAG p.E285Q RAD52_uc001qit.1_RNA|RAD52_uc010sdt.1_Missense_Mutation_p.E208Q|RAD52_uc001qiu.1_Missense_Mutation_p.E285Q|RAD52_uc001qiv.1_RNA|RAD52_uc001qiw.1_RNA|RAD52_uc010sdu.1_Nonstop_Mutation_p.*302S NM_134424 NP_602296 P43351 RAD52_HUMAN RAD52 homolog 285 DNA recombinase assembly|mitotic recombination|reciprocal meiotic recombination nucleoplasm DNA binding|protein binding central_nervous_system(1) 1 all_cancers(10;0.0119)|all_epithelial(11;0.0171)|all_lung(10;0.0521)|Ovarian(42;0.0816)|Lung NSC(10;0.0987) OV - Ovarian serous cystadenocarcinoma(31;0.00123)|BRCA - Breast invasive adenocarcinoma(9;0.0323) TCACTCTTCTCAGCTGACGGC 0.428 NaN Homologous_recombination 0 0 0 0.009096 0 4 10 C12orf11 55726 broad.mit.edu 37 12 27067369 27067369 + Nonsense_Mutation SNP G G T TCGA-DK-A1AB-01A-11D-A13W-08 TCGA-DK-A1AB-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f0fb2ba-0351-4ce0-8b74-31aa3deecae1 6bb1a3eb-1659-4df1-935d-f8b2d710ace4 g.chr12:27067369G>T uc001rhk.3 - 12 1928 c.1391C>A c.(1390-1392)TCA>TAA p.S464* C12orf11_uc001rhj.3_Intron|C12orf11_uc010sjk.1_Nonsense_Mutation_p.S363* NM_018164 NP_060634 Q9NVM9 M89BB_HUMAN hypothetical protein LOC55726 464 cell division|mitosis|regulation of mitotic cell cycle protein binding large_intestine(1)|ovary(1)|central_nervous_system(1) 3 Colorectal(261;0.0847) GGTGGTTTGTGAAATGATCAT 0.343 NaN 1 0 1.75199e-13 0.125774 1.95485e-13 27 101 ARNTL2 56938 broad.mit.edu 37 12 27573406 27573406 + Nonsense_Mutation SNP G G T TCGA-DK-A1AB-01A-11D-A13W-08 TCGA-DK-A1AB-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f0fb2ba-0351-4ce0-8b74-31aa3deecae1 6bb1a3eb-1659-4df1-935d-f8b2d710ace4 g.chr12:27573406G>T uc001rht.1 + 17 1870 c.1852G>T c.(1852-1854)GAA>TAA p.E618* ARNTL2_uc001rhw.2_Nonsense_Mutation_p.E581*|ARNTL2_uc010sjp.1_3'UTR|ARNTL2_uc001rhu.1_Nonsense_Mutation_p.E604*|ARNTL2_uc009zji.1_Nonsense_Mutation_p.E584*|ARNTL2_uc001rhv.1_Nonsense_Mutation_p.E570*|uc001rhx.2_Intron NM_020183 NP_064568 Q8WYA1 BMAL2_HUMAN aryl hydrocarbon receptor nuclear 618 circadian rhythm|entrainment of circadian clock|regulation of transcription from RNA polymerase II promoter nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity ovary(1)|skin(1) 2 Colorectal(261;0.0847)|Lung SC(9;0.184) GAATTACTTAGAAGCAGAGGG 0.448 NaN 1 0 1.67942e-08 0.038395 1.86082e-08 19 130 IPO8 10526 broad.mit.edu 37 12 30833508 30833508 + Nonsense_Mutation SNP G G A TCGA-DK-A1AB-01A-11D-A13W-08 TCGA-DK-A1AB-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f0fb2ba-0351-4ce0-8b74-31aa3deecae1 6bb1a3eb-1659-4df1-935d-f8b2d710ace4 g.chr12:30833508G>A uc001rjd.2 - 5 717 c.547C>T c.(547-549)CAG>TAG p.Q183* NM_006390 NP_006381 O15397 IPO8_HUMAN importin 8 183 intracellular protein transport|signal transduction cytoplasm|nucleus protein transporter activity|Ran GTPase binding skin(2)|central_nervous_system(1) 3 all_lung(12;6.66e-10)|Lung NSC(12;4.84e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233) ATTTGTTGCTGAATACGAGGC 0.343 NaN 0 0 0 0.139131 0 71 140 C12orf35 55196 broad.mit.edu 37 12 32137616 32137616 + Missense_Mutation SNP G G A TCGA-DK-A1AB-01A-11D-A13W-08 TCGA-DK-A1AB-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f0fb2ba-0351-4ce0-8b74-31aa3deecae1 6bb1a3eb-1659-4df1-935d-f8b2d710ace4 g.chr12:32137616G>A uc001rks.2 + 4 4141 c.3727G>A c.(3727-3729)GAT>AAT p.D1243N C12orf35_uc001rkt.2_5'Flank NM_018169 NP_060639 Q9HCM1 CL035_HUMAN hypothetical protein LOC55196 1243 ovary(1)|skin(1) 2 all_cancers(9;3.36e-11)|all_epithelial(9;2.56e-11)|all_lung(12;5.67e-10)|Acute lymphoblastic leukemia(23;0.0122)|Lung SC(12;0.0336)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204) OV - Ovarian serous cystadenocarcinoma(6;0.0114) GACTCCTCCAGATGGGAAAAG 0.368 NaN 0 0 0 0.083992 0 25 57 DDX23 9416 broad.mit.edu 37 12 49230568 49230568 + Silent SNP G G A TCGA-DK-A1AB-01A-11D-A13W-08 TCGA-DK-A1AB-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f0fb2ba-0351-4ce0-8b74-31aa3deecae1 6bb1a3eb-1659-4df1-935d-f8b2d710ace4 g.chr12:49230568G>A uc001rsm.2 - 10 1111 c.1020C>T c.(1018-1020)CTC>CTT p.L340L NM_004818 NP_004809 Q9BUQ8 DDX23_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 23 340 catalytic step 2 spliceosome|nucleoplasm|U5 snRNP ATP binding|ATP-dependent RNA helicase activity|nucleic acid binding|protein binding kidney(3)|ovary(1)|lung(1)|skin(1) 6 GAAGTTTGCGGAGTCTTGCCC 0.537 NaN 0 0 0 0.139131 0 110 285 TROAP 10024 broad.mit.edu 37 12 49722719 49722719 + Missense_Mutation SNP G G A TCGA-DK-A1AB-01A-11D-A13W-08 TCGA-DK-A1AB-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f0fb2ba-0351-4ce0-8b74-31aa3deecae1 6bb1a3eb-1659-4df1-935d-f8b2d710ace4 g.chr12:49722719G>A uc001rtx.3 + 9 1068 c.901G>A c.(901-903)GAC>AAC p.D301N TROAP_uc009zlh.2_Missense_Mutation_p.D301N|TROAP_uc001rty.2_Missense_Mutation_p.D9N NM_005480 NP_005471 Q12815 TROAP_HUMAN tastin isoform 1 301 cell adhesion cytoplasm ovary(1) 1 GGACAGCCATGACTCCCACCT 0.468 NaN 0 0 0 0.049695 0 20 49 GALNT6 11226 broad.mit.edu 37 12 51759233 51759233 + Silent SNP G G A TCGA-DK-A1AB-01A-11D-A13W-08 TCGA-DK-A1AB-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f0fb2ba-0351-4ce0-8b74-31aa3deecae1 6bb1a3eb-1659-4df1-935d-f8b2d710ace4 g.chr12:51759233G>A uc001ryk.2 - 4 1020 c.795C>T c.(793-795)CTC>CTT p.L265L GALNT6_uc009zma.1_RNA|GALNT6_uc001ryl.1_Silent_p.L265L NM_007210 NP_009141 Q8NCL4 GALT6_HUMAN polypeptide N-acetylgalactosaminyltransferase 6 265 Catalytic subdomain A.|Lumenal (Potential). protein O-linked glycosylation Golgi membrane|integral to membrane|perinuclear region of cytoplasm polypeptide N-acetylgalactosaminyltransferase activity|sugar binding ovary(2) 2 CCAGGAACGTGAGCACCTCCG 0.677 NaN 0 0 0 0.105934 0 13 29 LRP1 4035 broad.mit.edu 37 12 57595667 57595667 + Missense_Mutation SNP G G C TCGA-DK-A1AB-01A-11D-A13W-08 TCGA-DK-A1AB-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f0fb2ba-0351-4ce0-8b74-31aa3deecae1 6bb1a3eb-1659-4df1-935d-f8b2d710ace4 g.chr12:57595667G>C uc001snd.2 + 67 11039 c.10573G>C c.(10573-10575)GAT>CAT p.D3525H NM_002332 NP_002323 Q07954 LRP1_HUMAN low density lipoprotein-related protein 1 3525 Extracellular (Potential).|LDL-receptor class A 25. aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity coated pit|integral to plasma membrane|nucleus apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity ovary(8)|lung(3)|breast(3)|large_intestine(2)|central_nervous_system(2)|skin(2)|pancreas(2) 22 BRCA - Breast invasive adenocarcinoma(357;0.0103) Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031) GGATGGCTCGGATGAGCCCAA 0.632 NaN 0 0 0 0.11911 0 14 49 TBC1D15 64786 broad.mit.edu 37 12 72291701 72291701 + Missense_Mutation SNP G G A TCGA-DK-A1AB-01A-11D-A13W-08 TCGA-DK-A1AB-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f0fb2ba-0351-4ce0-8b74-31aa3deecae1 6bb1a3eb-1659-4df1-935d-f8b2d710ace4 g.chr12:72291701G>A uc001swu.2 + 11 1289 c.1280G>A c.(1279-1281)AGA>AAA p.R427K TBC1D15_uc009zrv.2_Missense_Mutation_p.R289K|TBC1D15_uc010stt.1_Missense_Mutation_p.R396K|TBC1D15_uc001swv.2_Missense_Mutation_p.R410K|TBC1D15_uc001sww.2_Missense_Mutation_p.R159K NM_022771 NP_073608 Q8TC07 TBC15_HUMAN TBC1 domain family, member 15 isoform 1 405 Rab-GAP TBC. protein binding|Rab GTPase activator activity 0 TCGAGGTTAAGAGATTATAGA 0.333 NaN 0 0 0 0.099896 0 28 71 C12orf51 283450 broad.mit.edu 37 12 112664513 112664513 + Missense_Mutation SNP C C G TCGA-DK-A1AB-01A-11D-A13W-08 TCGA-DK-A1AB-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f0fb2ba-0351-4ce0-8b74-31aa3deecae1 6bb1a3eb-1659-4df1-935d-f8b2d710ace4 g.chr12:112664513C>G uc009zwc.2 - 37 5656 c.5638G>C c.(5638-5640)GAA>CAA p.E1880Q C12orf51_uc001ttr.1_Missense_Mutation_p.E55Q NM_001109662 NP_001103132 chromosome 12 open reading frame 51 ovary(1)|lung(1) 2 TGTATGAATTCTTCACAAAAT 0.398 NaN 0 0 0 0.080935 0 12 26 IFT88 8100 broad.mit.edu 37 13 21157156 21157156 + Missense_Mutation SNP C C T TCGA-DK-A1AB-01A-11D-A13W-08 TCGA-DK-A1AB-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f0fb2ba-0351-4ce0-8b74-31aa3deecae1 6bb1a3eb-1659-4df1-935d-f8b2d710ace4 g.chr13:21157156C>T uc001unh.2 + 5 574 c.178C>T c.(178-180)CCA>TCA p.P60S IFT88_uc001uni.2_Missense_Mutation_p.P51S|IFT88_uc001unj.2_Missense_Mutation_p.P50S|IFT88_uc010tcq.1_Missense_Mutation_p.P50S NM_175605 NP_783195 Q13099 IFT88_HUMAN intraflagellar transport 88 homolog isoform 1 60 cilium morphogenesis centriole|intraflagellar transport particle B|microtubule basal body|microtubule-based flagellum protein binding ovary(1) 1 all_cancers(29;5.79e-25)|all_epithelial(30;2.57e-20)|all_lung(29;3.13e-16)|Lung SC(185;0.0262)|Ovarian(182;0.0825)|Hepatocellular(188;0.244) all cancers(112;0.000667)|Epithelial(112;0.00119)|OV - Ovarian serous cystadenocarcinoma(117;0.0141)|Lung(94;0.0183)|LUSC - Lung squamous cell carcinoma(192;0.0528) CAGAAGACCTCCAGTAAGTGA 0.219 NaN 0 0 0 0.043863 0 20 68 UGGT2 55757 broad.mit.edu 37 13 96513055 96513055 + Missense_Mutation SNP C C T TCGA-DK-A1AB-01A-11D-A13W-08 TCGA-DK-A1AB-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f0fb2ba-0351-4ce0-8b74-31aa3deecae1 6bb1a3eb-1659-4df1-935d-f8b2d710ace4 g.chr13:96513055C>T uc001vmt.2 - 32 3897 c.3727G>A c.(3727-3729)GAA>AAA p.E1243K NM_020121 NP_064506 Q9NYU1 UGGG2_HUMAN UDP-glucose ceramide glucosyltransferase-like 2 1243 Glucosyltransferase. post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine endoplasmic reticulum lumen|ER-Golgi intermediate compartment UDP-glucose:glycoprotein glucosyltransferase activity ovary(2)|central_nervous_system(1) 3 AAAAAACGTTCATATAAATGA 0.254 NaN 0 0 0 0.105934 0 13 65 ATP11A 23250 broad.mit.edu 37 13 113532599 113532599 + Silent SNP G G C TCGA-DK-A1AB-01A-11D-A13W-08 TCGA-DK-A1AB-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f0fb2ba-0351-4ce0-8b74-31aa3deecae1 6bb1a3eb-1659-4df1-935d-f8b2d710ace4 g.chr13:113532599G>C uc001vsi.3 + 29 3484 c.3396G>C c.(3394-3396)CTG>CTC p.L1132L ATP11A_uc001vsj.3_Intron|ATP11A_uc010ago.2_RNA NM_015205 NP_056020 P98196 AT11A_HUMAN ATPase, class VI, type 11A isoform a 1132 Cytoplasmic (Potential). ATP biosynthetic process integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity large_intestine(2)|ovary(2) 4 all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163) all_lung(25;0.134)|all_epithelial(44;0.141) CCAGCAGCCTGAGTTTCTGAT 0.572 NaN 0 0 0 0.038395 0 17 47 TRAPPC6B 122553 broad.mit.edu 37 14 39627491 39627491 + Nonsense_Mutation SNP G G A TCGA-DK-A1AB-01A-11D-A13W-08 TCGA-DK-A1AB-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f0fb2ba-0351-4ce0-8b74-31aa3deecae1 6bb1a3eb-1659-4df1-935d-f8b2d710ace4 g.chr14:39627491G>A uc001wut.1 - 3 600 c.265C>T c.(265-267)CAG>TAG p.Q89* TRAPPC6B_uc001wuu.1_Nonsense_Mutation_p.Q89*|TRAPPC6B_uc001wuv.1_RNA|TRAPPC6B_uc010tqd.1_Intron NM_001079537 NP_001073005 Q86SZ2 TPC6B_HUMAN trafficking protein particle complex 6B isoform 89 vesicle-mediated transport endoplasmic reticulum|Golgi apparatus guanylate cyclase activity|heme binding 0 Hepatocellular(127;0.213) LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711) GBM - Glioblastoma multiforme(112;0.0128) TTAATTACCTGATGATTTGTC 0.274 NaN 0 0 0 0.047766 0 7 42 CTAGE5 4253 broad.mit.edu 37 14 39783995 39783995 + Nonsense_Mutation SNP C C T TCGA-DK-A1AB-01A-11D-A13W-08 TCGA-DK-A1AB-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f0fb2ba-0351-4ce0-8b74-31aa3deecae1 6bb1a3eb-1659-4df1-935d-f8b2d710ace4 g.chr14:39783995C>T uc001wvg.3 + 15 1684 c.1348C>T c.(1348-1350)CAA>TAA p.Q450* CTAGE5_uc010tqe.1_Nonsense_Mutation_p.Q412*|CTAGE5_uc001wuz.3_Nonsense_Mutation_p.Q438*|CTAGE5_uc001wuy.3_Nonsense_Mutation_p.Q370*|CTAGE5_uc001wvb.3_Nonsense_Mutation_p.Q421*|CTAGE5_uc001wvc.3_Nonsense_Mutation_p.Q395*|CTAGE5_uc001wva.3_Nonsense_Mutation_p.Q421*|CTAGE5_uc001wvh.3_Nonsense_Mutation_p.Q450*|CTAGE5_uc001wvf.3_Nonsense_Mutation_p.Q375*|CTAGE5_uc001wvi.3_Nonsense_Mutation_p.Q455*|CTAGE5_uc010amz.2_Nonsense_Mutation_p.Q66*|CTAGE5_uc001wvj.3_Nonsense_Mutation_p.Q421* NM_005930 NP_005921 O15320 CTGE5_HUMAN CTAGE family, member 5 isoform 1 450 Potential. enzyme activator activity|protein binding 0 Hepatocellular(127;0.213) LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711) GBM - Glioblastoma multiforme(112;0.0475) TCATTCTTATCAAGGGCAGGT 0.229 NaN 0 0 0 0.049695 0 19 53 PPIL5 122769 broad.mit.edu 37 14 50074213 50074213 + Silent SNP G G A TCGA-DK-A1AB-01A-11D-A13W-08 TCGA-DK-A1AB-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f0fb2ba-0351-4ce0-8b74-31aa3deecae1 6bb1a3eb-1659-4df1-935d-f8b2d710ace4 g.chr14:50074213G>A uc001wwn.2 + 3 702 c.378G>A c.(376-378)GTG>GTA p.V126V SDCCAG1_uc010anj.1_Intron|PPIL5_uc001wwo.2_Intron|PPIL5_uc010ank.2_Silent_p.V67V|PPIL5_uc001wwp.2_RNA NM_152329 NP_689542 Q96L50 LLR1_HUMAN peptidylprolyl isomerase (cyclophilin)-like 5 126 0 all_epithelial(31;0.0021)|Breast(41;0.0124) TCACACCAGTGAAGACTTCAG 0.368 NaN 0 0 0 0.125774 0 31 95 SDCCAG1 9147 broad.mit.edu 37 14 50255908 50255908 + Missense_Mutation SNP G G A TCGA-DK-A1AB-01A-11D-A13W-08 TCGA-DK-A1AB-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f0fb2ba-0351-4ce0-8b74-31aa3deecae1 6bb1a3eb-1659-4df1-935d-f8b2d710ace4 g.chr14:50255908G>A uc001wxc.2 - 28 2919 c.2851C>T c.(2851-2853)CAT>TAT p.H951Y SDCCAG1_uc010anj.1_Missense_Mutation_p.H951Y|SDCCAG1_uc001wwz.2_Missense_Mutation_p.H151Y|SDCCAG1_uc001wxa.2_Missense_Mutation_p.H231Y|SDCCAG1_uc010tqi.1_Missense_Mutation_p.H930Y|SDCCAG1_uc001wxe.2_Missense_Mutation_p.H909Y NM_004713 NP_004704 O60524 NEMF_HUMAN serologically defined colon cancer antigen 1 951 cytoplasm|nucleus 0 all_epithelial(31;0.000822)|Breast(41;0.0117) all_lung(585;1.02e-05) OV - Ovarian serous cystadenocarcinoma(311;5.99e-34) TGTAACTCATGAGTTATAACC 0.428 NaN 0 0 0 0.139131 0 53 169 C14orf182 283551 broad.mit.edu 37 14 50472344 50472344 + Silent SNP G G C TCGA-DK-A1AB-01A-11D-A13W-08 TCGA-DK-A1AB-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f0fb2ba-0351-4ce0-8b74-31aa3deecae1 6bb1a3eb-1659-4df1-935d-f8b2d710ace4 g.chr14:50472344G>C uc001wxi.1 - 1 1895 c.174C>G c.(172-174)CTC>CTG p.L58L NM_001012706 NP_001012724 A1A4T8 CN182_HUMAN hypothetical protein LOC283551 58 0 CCCCGCTACTGAGTGGCAAGA 0.522 NaN 0 0 0 0.09836 0 42 151 ESR2 2100 broad.mit.edu 37 14 64727309 64727309 + Silent SNP G G A TCGA-DK-A1AB-01A-11D-A13W-08 TCGA-DK-A1AB-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f0fb2ba-0351-4ce0-8b74-31aa3deecae1 6bb1a3eb-1659-4df1-935d-f8b2d710ace4 g.chr14:64727309G>A uc001xha.1 - 5 1278 c.810C>T c.(808-810)CTC>CTT p.L270L ESR2_uc001xgu.2_Silent_p.L270L|ESR2_uc001xgv.2_Silent_p.L270L|ESR2_uc001xgw.2_RNA|ESR2_uc001xgx.2_Silent_p.L270L|ESR2_uc001xgy.1_Silent_p.L270L|ESR2_uc001xgz.1_Silent_p.L270L|ESR2_uc010aqb.1_RNA|ESR2_uc010aqc.1_Silent_p.L270L|ESR2_uc010aqd.1_RNA NM_001437 NP_001428 Q92731 ESR2_HUMAN estrogen receptor beta isoform 1 270 Steroid-binding. cell-cell signaling|negative regulation of cell growth|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor mitochondrion|nucleoplasm enzyme binding|estrogen receptor activity|receptor antagonist activity|sequence-specific DNA binding transcription factor activity|steroid binding|transcription coactivator activity|zinc ion binding central_nervous_system(2)|ovary(1) 3 all cancers(60;0.00916)|OV - Ovarian serous cystadenocarcinoma(108;0.0111)|BRCA - Breast invasive adenocarcinoma(234;0.0437) Bicalutamide(DB01128)|Estradiol(DB00783)|Estramustine(DB01196)|Raloxifene(DB00481)|Tamoxifen(DB00675)|Trilostane(DB01108) CCAGGAGGGTGAGCACTAGCT 0.677 NaN 0 0 0 0.055883 0 21 30 PLEKHG3 26030 broad.mit.edu 37 14 65194411 65194411 + Missense_Mutation SNP C C G TCGA-DK-A1AB-01A-11D-A13W-08 TCGA-DK-A1AB-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f0fb2ba-0351-4ce0-8b74-31aa3deecae1 6bb1a3eb-1659-4df1-935d-f8b2d710ace4 g.chr14:65194411C>G uc001xho.1 + 2 331 c.62C>G c.(61-63)TCT>TGT p.S21C PLEKHG3_uc001xhn.1_Missense_Mutation_p.S21C|PLEKHG3_uc001xhp.2_Missense_Mutation_p.S21C|PLEKHG3_uc010aqh.1_5'Flank NM_015549 NP_056364 A1L390 PKHG3_HUMAN pleckstrin homology domain containing, family G, 21 Ser-rich. 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) AGCCTGACCTCTACCACCTCC 0.667 NaN 0 0 0 0.014758 0 3 10 ZDHHC22 283576 broad.mit.edu 37 14 77605820 77605820 + Missense_Mutation SNP G G C TCGA-DK-A1AB-01A-11D-A13W-08 TCGA-DK-A1AB-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f0fb2ba-0351-4ce0-8b74-31aa3deecae1 6bb1a3eb-1659-4df1-935d-f8b2d710ace4 g.chr14:77605820G>C uc010asp.2 - 2 465 c.262C>G c.(262-264)CCA>GCA p.P88A NM_174976 NP_777636 Q8N966 ZDH22_HUMAN zinc finger, DHHC domain containing 22 88 DHHC-type. integral to membrane acyltransferase activity|zinc ion binding 0 Kidney(204;0.164) BRCA - Breast invasive adenocarcinoma(234;0.0277) GAGGGGCATGGAGTCTTCCTG 0.627 NaN 0 0 0 0.014758 0 5 9 EML5 161436 broad.mit.edu 37 14 89168814 89168814 + Missense_Mutation SNP C C G TCGA-DK-A1AB-01A-11D-A13W-08 TCGA-DK-A1AB-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f0fb2ba-0351-4ce0-8b74-31aa3deecae1 6bb1a3eb-1659-4df1-935d-f8b2d710ace4 g.chr14:89168814C>G uc001xxg.2 - 15 2400 c.2214G>C c.(2212-2214)TTG>TTC p.L738F EML5_uc001xxh.1_5'UTR NM_183387 NP_899243 Q05BV3 EMAL5_HUMAN echinoderm microtubule associated protein like 738 WD 11. cytoplasm|microtubule ovary(3) 3 CGTAGTCTTTCAAAGGATGAA 0.388 NaN 0 0 0 0.02938 0 7 53 CATSPERB 79820 broad.mit.edu 37 14 92088132 92088132 + Missense_Mutation SNP G G C rs143009010 TCGA-DK-A1AB-01A-11D-A13W-08 TCGA-DK-A1AB-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f0fb2ba-0351-4ce0-8b74-31aa3deecae1 6bb1a3eb-1659-4df1-935d-f8b2d710ace4 g.chr14:92088132G>C uc001xzs.1 - 19 2220 c.2080C>G c.(2080-2082)CTA>GTA p.L694V CATSPERB_uc010aub.1_Missense_Mutation_p.L216V NM_024764 NP_079040 Q9H7T0 CTSRB_HUMAN cation channel, sperm-associated, beta 694 cell differentiation|multicellular organismal development|spermatogenesis integral to membrane breast(2)|skin(2)|ovary(1) 5 all_cancers(154;0.0663)|all_epithelial(191;0.236) GTGCTCTTTAGAAAGGTCATA 0.383 NaN 0 0 0 0.139131 0 51 137 ATG2B 55102 broad.mit.edu 37 14 96752292 96752292 + Missense_Mutation SNP C C T TCGA-DK-A1AB-01A-11D-A13W-08 TCGA-DK-A1AB-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f0fb2ba-0351-4ce0-8b74-31aa3deecae1 6bb1a3eb-1659-4df1-935d-f8b2d710ace4 g.chr14:96752292C>T uc001yfi.2 - 42 6402 c.6037G>A c.(6037-6039)GAA>AAA p.E2013K NM_018036 NP_060506 Q96BY7 ATG2B_HUMAN ATG2 autophagy related 2 homolog B 2013 ovary(1)|kidney(1)|skin(1) 3 all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155) Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244) GCCGCAGTTTCATAAATGGTC 0.557 NaN 0 0 0 0.069234 0 6 16 EVL 51466 broad.mit.edu 37 14 100607527 100607527 + Missense_Mutation SNP G G A TCGA-DK-A1AB-01A-11D-A13W-08 TCGA-DK-A1AB-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f0fb2ba-0351-4ce0-8b74-31aa3deecae1 6bb1a3eb-1659-4df1-935d-f8b2d710ace4 g.chr14:100607527G>A uc001ygt.2 + 12 1338 c.1099G>A c.(1099-1101)GCT>ACT p.A367T EVL_uc001ygu.2_Missense_Mutation_p.A369T|EVL_uc010avu.2_Missense_Mutation_p.A226T|EVL_uc001ygw.1_5'Flank NM_016337 NP_057421 Q9UI08 EVL_HUMAN Enah/Vasp-like 367 EVH2. actin polymerization or depolymerization|axon guidance|cell surface receptor linked signaling pathway|organ morphogenesis cytoskeleton|cytosol|focal adhesion|lamellipodium actin binding|profilin binding|SH3 domain binding large_intestine(2)|ovary(1) 3 Melanoma(154;0.152) GATGAAGCCTGCTGGGAGCGT 0.647 NaN 0 0 0 0.02938 0 7 38 DYNC1H1 1778 broad.mit.edu 37 14 102442048 102442048 + Splice_Site SNP G G C TCGA-DK-A1AB-01A-11D-A13W-08 TCGA-DK-A1AB-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f0fb2ba-0351-4ce0-8b74-31aa3deecae1 6bb1a3eb-1659-4df1-935d-f8b2d710ace4 g.chr14:102442048G>C uc001yks.2 + 2 421 c.257_splice c.e2-1 p.E86_splice NM_001376 NP_001367 Q14204 DYHC1_HUMAN cytoplasmic dynein 1 heavy chain 1 cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding ovary(7)|central_nervous_system(2)|pancreas(1) 10 ATGATTTGTAGAGGACGTCGG 0.323 NaN 0 0 0 0.009096 0 3 76 INF2 64423 broad.mit.edu 37 14 105181636 105181636 + Missense_Mutation SNP C C T TCGA-DK-A1AB-01A-11D-A13W-08 TCGA-DK-A1AB-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f0fb2ba-0351-4ce0-8b74-31aa3deecae1 6bb1a3eb-1659-4df1-935d-f8b2d710ace4 g.chr14:105181636C>T uc001ypb.2 + 22 3853 c.3710C>T c.(3709-3711)TCT>TTT p.S1237F INF2_uc010tyi.1_Missense_Mutation_p.S1237F|INF2_uc001ypc.2_Intron|INF2_uc010awz.1_RNA NM_022489 NP_071934 Q27J81 INF2_HUMAN inverted formin 2 isoform 1 1237 actin cytoskeleton organization endoplasmic reticulum|nucleus|perinuclear region of cytoplasm actin binding|Rho GTPase binding 0 all_cancers(154;0.0896)|Melanoma(154;0.155)|all_epithelial(191;0.172) all cancers(16;0.00188)|OV - Ovarian serous cystadenocarcinoma(23;0.0191)|Epithelial(46;0.047)|GBM - Glioblastoma multiforme(11;0.116) Epithelial(152;0.176) CCCCCTGATTCTGATGATAAT 0.557 NaN 0 0 0 0.139131 0 48 132 AHNAK2 113146 broad.mit.edu 37 14 105410194 105410194 + Missense_Mutation SNP C C T TCGA-DK-A1AB-01A-11D-A13W-08 TCGA-DK-A1AB-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f0fb2ba-0351-4ce0-8b74-31aa3deecae1 6bb1a3eb-1659-4df1-935d-f8b2d710ace4 g.chr14:105410194C>T uc010axc.1 - 7 11714 c.11594G>A c.(11593-11595)CGC>CAC p.R3865H AHNAK2_uc001ypx.2_Missense_Mutation_p.R3765H NM_138420 NP_612429 Q8IVF2 AHNK2_HUMAN AHNAK nucleoprotein 2 3865 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) GTCCACCTGGCGAGCTTGGAC 0.607 NaN 0 0 0 0.139131 0 63 154 CYFIP1 23191 broad.mit.edu 37 15 22933811 22933811 + Silent SNP C C T TCGA-DK-A1AB-01A-11D-A13W-08 TCGA-DK-A1AB-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f0fb2ba-0351-4ce0-8b74-31aa3deecae1 6bb1a3eb-1659-4df1-935d-f8b2d710ace4 g.chr15:22933811C>T uc001yus.2 + 8 834 c.730C>T c.(730-732)CTG>TTG p.L244L CYFIP1_uc001yut.2_Silent_p.L244L|CYFIP1_uc010aya.1_Silent_p.L272L NM_014608 NP_055423 Q7L576 CYFP1_HUMAN cytoplasmic FMR1 interacting protein 1 isoform 244 axon extension|lamellipodium assembly|regulation of cell shape|ruffle organization cell junction|lamellipodium|mRNA cap binding complex|perinuclear region of cytoplasm|ruffle|synapse|synaptosome actin filament binding|Rac GTPase binding ovary(4)|pancreas(3)|liver(1)|skin(1) 9 all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488) all cancers(64;2.22e-06)|Epithelial(43;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00101) TATTGTGAATCTGTGTGTGGA 0.522 NaN 0 0 0 0.069456 0 33 148 APBA2 321 broad.mit.edu 37 15 29393870 29393870 + Silent SNP G G A TCGA-DK-A1AB-01A-11D-A13W-08 TCGA-DK-A1AB-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f0fb2ba-0351-4ce0-8b74-31aa3deecae1 6bb1a3eb-1659-4df1-935d-f8b2d710ace4 g.chr15:29393870G>A uc001zck.2 + 9 1614 c.1407G>A c.(1405-1407)CTG>CTA p.L469L APBA2_uc010azj.2_Silent_p.L457L|APBA2_uc010uat.1_Silent_p.L457L|APBA2_uc001zcl.2_Silent_p.L457L|APBA2_uc001zcm.1_Silent_p.L161L NM_005503 NP_005494 Q99767 APBA2_HUMAN amyloid beta A4 precursor protein-binding, 469 PID. nervous system development|protein transport protein binding 0 all_lung(180;1.73e-12)|Breast(32;2.89e-05)|Colorectal(260;0.234) all cancers(64;7.44e-11)|Epithelial(43;5.74e-10)|GBM - Glioblastoma multiforme(186;0.026)|BRCA - Breast invasive adenocarcinoma(123;0.0286)|Lung(196;0.24) TTGTAGTGCTGATGGCCAGAC 0.592 NaN 0 0 0 0.014758 0 4 18 RYR3 6263 broad.mit.edu 37 15 34047305 34047305 + Missense_Mutation SNP G G C TCGA-DK-A1AB-01A-11D-A13W-08 TCGA-DK-A1AB-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f0fb2ba-0351-4ce0-8b74-31aa3deecae1 6bb1a3eb-1659-4df1-935d-f8b2d710ace4 g.chr15:34047305G>C uc001zhi.2 + 58 8509 c.8439G>C c.(8437-8439)GAG>GAC p.E2813D RYR3_uc010bar.2_Missense_Mutation_p.E2813D NM_001036 NP_001027 Q15413 RYR3_HUMAN ryanodine receptor 3 2813 4.|Cytoplasmic (By similarity).|4 X approximate repeats. cellular calcium ion homeostasis integral to membrane calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity ovary(5)|central_nervous_system(4)|lung(1) 10 all_lung(180;7.18e-09) all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363) CCTCCATGGAGAAGAGGTTTG 0.443 NaN 0 0 0 0.014758 0 4 20 CATSPER2 117155 broad.mit.edu 37 15 43932621 43932621 + Silent SNP C C T TCGA-DK-A1AB-01A-11D-A13W-08 TCGA-DK-A1AB-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f0fb2ba-0351-4ce0-8b74-31aa3deecae1 6bb1a3eb-1659-4df1-935d-f8b2d710ace4 g.chr15:43932621C>T uc001zsh.2 - 5 677 c.462G>A c.(460-462)TTG>TTA p.L154L CATSPER2_uc010bdm.2_RNA|CATSPER2_uc001zsi.2_Silent_p.L154L|CATSPER2_uc001zsj.2_Silent_p.L154L|CATSPER2_uc001zsk.2_Silent_p.L154L NM_172095 NP_742093 Q96P56 CTSR2_HUMAN sperm-associated cation channel 2 isoform 2 154 Helical; Name=Segment S2; (Potential). cell differentiation|multicellular organismal development|spermatogenesis cilium|flagellar membrane|integral to membrane calcium channel activity|protein binding|voltage-gated ion channel activity ovary(1) 1 all_cancers(109;3.26e-15)|all_epithelial(112;1.48e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.027)|Colorectal(260;0.215) GBM - Glioblastoma multiforme(94;3.56e-07) TGAAAATAAGCAAGATAAACC 0.418 NaN 0 0 0 0.092188 0 43 97 ATP8B4 79895 broad.mit.edu 37 15 50152570 50152570 + Missense_Mutation SNP G G A TCGA-DK-A1AB-01A-11D-A13W-08 TCGA-DK-A1AB-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f0fb2ba-0351-4ce0-8b74-31aa3deecae1 6bb1a3eb-1659-4df1-935d-f8b2d710ace4 g.chr15:50152570G>A uc001zxu.2 - 28 3542 c.3400C>T c.(3400-3402)CAC>TAC p.H1134Y ATP8B4_uc010ber.2_Missense_Mutation_p.H1007Y|ATP8B4_uc010ufd.1_Missense_Mutation_p.H944Y|ATP8B4_uc010ufe.1_RNA|ATP8B4_uc001zxt.2_Missense_Mutation_p.H137Y NM_024837 NP_079113 Q8TF62 AT8B4_HUMAN ATPase class I type 8B member 4 1134 Cytoplasmic (Potential). ATP biosynthetic process integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity skin(3)|ovary(2)|breast(2)|large_intestine(1) 8 all_lung(180;0.00183) all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05) CCTTCTTGGTGAGCAAAAGCA 0.507 NaN 0 0 0 0.139131 0 50 115 TCF12 6938 broad.mit.edu 37 15 57565418 57565418 + Missense_Mutation SNP C C G TCGA-DK-A1AB-01A-11D-A13W-08 TCGA-DK-A1AB-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f0fb2ba-0351-4ce0-8b74-31aa3deecae1 6bb1a3eb-1659-4df1-935d-f8b2d710ace4 g.chr15:57565418C>G uc002aec.2 + 18 2148 c.1864C>G c.(1864-1866)CAA>GAA p.Q622E TCF12_uc010ugm.1_Missense_Mutation_p.Q674E|TCF12_uc010ugn.1_Missense_Mutation_p.Q642E|TCF12_uc002aea.2_Missense_Mutation_p.Q646E|TCF12_uc010bfs.2_Missense_Mutation_p.Q43E|TCF12_uc002aeb.2_Missense_Mutation_p.Q646E|TCF12_uc002aed.2_Missense_Mutation_p.Q622E|TCF12_uc002aee.2_Missense_Mutation_p.Q452E|TCF12_uc010bft.2_Missense_Mutation_p.Q476E|TCF12_uc010ugo.1_Missense_Mutation_p.Q386E|TCF12_uc010ugp.1_Missense_Mutation_p.Q279E|TCF12_uc010ugq.1_Missense_Mutation_p.Q256E|TCF12_uc010ugr.1_Missense_Mutation_p.Q235E NM_207038 NP_996921 Q99081 HTF4_HUMAN transcription factor 12 isoform b 622 Helix-loop-helix motif. immune response|muscle organ development|regulation of transcription from RNA polymerase II promoter nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity central_nervous_system(5)|ovary(2)|lung(1) 8 Colorectal(260;0.0907) all cancers(107;0.000313)|GBM - Glioblastoma multiforme(80;0.00878)|STAD - Stomach adenocarcinoma(283;0.239) TATTCTTCATCAAGCCGTGGC 0.448 NaN T TEC extraskeletal myxoid chondrosarcoma 0 0 0 0.080935 0 11 40 FAM96A 84191 broad.mit.edu 37 15 64385901 64385901 + Missense_Mutation SNP C C T TCGA-DK-A1AB-01A-11D-A13W-08 TCGA-DK-A1AB-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f0fb2ba-0351-4ce0-8b74-31aa3deecae1 6bb1a3eb-1659-4df1-935d-f8b2d710ace4 g.chr15:64385901C>T uc002amt.1 - 1 307 c.67G>A c.(67-69)GAG>AAG p.E23K FAM96A_uc002amu.1_Missense_Mutation_p.E23K|FAM96A_uc010uin.1_Missense_Mutation_p.E23K|SNX1_uc010bgv.2_5'Flank|SNX1_uc010uio.1_5'Flank|SNX1_uc002amv.2_5'Flank|SNX1_uc002amw.2_5'Flank|SNX1_uc002amx.2_5'Flank|SNX1_uc002amy.2_5'Flank|SNX1_uc010bgw.2_5'Flank NM_032231 NP_115607 Q9H5X1 FA96A_HUMAN family with sequence similarity 96, member A 23 chromosome segregation 0 GCTCCCGGCTCAGAGAGGCCG 0.582 NaN 0 0 0 0.058154 0 8 27 ITGA11 22801 broad.mit.edu 37 15 68620499 68620499 + Missense_Mutation SNP C C A TCGA-DK-A1AB-01A-11D-A13W-08 TCGA-DK-A1AB-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f0fb2ba-0351-4ce0-8b74-31aa3deecae1 6bb1a3eb-1659-4df1-935d-f8b2d710ace4 g.chr15:68620499C>A uc002ari.2 - 16 2090 c.2003G>T c.(2002-2004)TGC>TTC p.C668F ITGA11_uc010bib.2_Missense_Mutation_p.C668F NM_001004439 NP_001004439 Q9UKX5 ITA11_HUMAN integrin, alpha 11 precursor 668 Extracellular (Potential). cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development integrin complex collagen binding|receptor activity kidney(2)|pancreas(1) 3 Tirofiban(DB00775) GGCGGCCAGGCAGGTGGCATC 0.577 NaN 1 0 1.26484e-09 0.038147 1.40637e-09 6 38 RNPS1 10921 broad.mit.edu 37 16 2312402 2312402 + Missense_Mutation SNP C C T TCGA-DK-A1AB-01A-11D-A13W-08 TCGA-DK-A1AB-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f0fb2ba-0351-4ce0-8b74-31aa3deecae1 6bb1a3eb-1659-4df1-935d-f8b2d710ace4 g.chr16:2312402C>T uc002cpt.2 - 6 1099 c.553G>A c.(553-555)GGG>AGG p.G185R RNPS1_uc002cpu.2_Missense_Mutation_p.G185R|RNPS1_uc002cpv.2_Missense_Mutation_p.G8R|RNPS1_uc002cpw.2_Missense_Mutation_p.G185R|RNPS1_uc002cpx.2_Missense_Mutation_p.G162R|RNPS1_uc010uwa.1_RNA NM_080594 NP_542161 Q15287 RNPS1_HUMAN RNA-binding protein S1, serine-rich domain 185 Necessary for interaction with PNN and exon-skipping.|Necessary for interaction with the cleaved p110 isoform of CDC2L1.|RRM. mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|termination of RNA polymerase II transcription cytosol|nuclear speck mRNA 3'-UTR binding|nucleotide binding|protein binding ovary(1) 1 TTAATTTTCCCATAGGTGGAA 0.488 NaN 0 0 0 0.062417 0 23 50 ZNF205 7755 broad.mit.edu 37 16 3170223 3170223 + Missense_Mutation SNP G G A TCGA-DK-A1AB-01A-11D-A13W-08 TCGA-DK-A1AB-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f0fb2ba-0351-4ce0-8b74-31aa3deecae1 6bb1a3eb-1659-4df1-935d-f8b2d710ace4 g.chr16:3170223G>A uc002cub.2 + 7 1697 c.1562G>A c.(1561-1563)CGG>CAG p.R521Q ZNF205_uc002cua.2_Missense_Mutation_p.R521Q NM_001042428 NP_001035893 O95201 ZN205_HUMAN zinc finger protein 205 521 C2H2-type 8. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding 0 AACCTGCACCGGCACGAGAAG 0.632 NaN 0 0 0 0.047766 0 9 22 CLUAP1 23059 broad.mit.edu 37 16 3569975 3569975 + Missense_Mutation SNP G G A TCGA-DK-A1AB-01A-11D-A13W-08 TCGA-DK-A1AB-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f0fb2ba-0351-4ce0-8b74-31aa3deecae1 6bb1a3eb-1659-4df1-935d-f8b2d710ace4 g.chr16:3569975G>A uc002cvk.1 + 7 757 c.652G>A c.(652-654)GAA>AAA p.E218K CLUAP1_uc002cvj.1_Missense_Mutation_p.E218K|CLUAP1_uc002cvl.1_Missense_Mutation_p.E218K|CLUAP1_uc002cvm.1_Missense_Mutation_p.E52K NM_015041 NP_055856 Q96AJ1 CLUA1_HUMAN clusterin associated protein 1 isoform 1 218 Potential. nucleus protein binding ovary(1)|breast(1)|pancreas(1) 3 AGCCAAAATCGAAAAGAGAAA 0.383 NaN 0 0 0 0.09836 0 40 147 C16orf62 57020 broad.mit.edu 37 16 19621680 19621680 + Missense_Mutation SNP G G A TCGA-DK-A1AB-01A-11D-A13W-08 TCGA-DK-A1AB-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f0fb2ba-0351-4ce0-8b74-31aa3deecae1 6bb1a3eb-1659-4df1-935d-f8b2d710ace4 g.chr16:19621680G>A uc002dgn.1 + 12 978 c.966G>A c.(964-966)ATG>ATA p.M322I C16orf62_uc002dgo.1_Missense_Mutation_p.M322I|C16orf62_uc002dgp.1_Missense_Mutation_p.M71I|C16orf62_uc010vas.1_Missense_Mutation_p.M196I|C16orf62_uc002dgm.1_Missense_Mutation_p.M322I NM_020314 NP_064710 Q7Z3J2 CP062_HUMAN hypothetical protein LOC57020 322 integral to membrane ovary(1) 1 TGACATGCATGATCAGAGGGA 0.547 NaN 0 0 0 0.021553 0 5 17 NLRC5 84166 broad.mit.edu 37 16 57063929 57063929 + Missense_Mutation SNP G G A TCGA-DK-A1AB-01A-11D-A13W-08 TCGA-DK-A1AB-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f0fb2ba-0351-4ce0-8b74-31aa3deecae1 6bb1a3eb-1659-4df1-935d-f8b2d710ace4 g.chr16:57063929G>A uc002ekk.1 + 10 2575 c.2350G>A c.(2350-2352)GTG>ATG p.V784M NLRC5_uc010ccq.1_RNA|NLRC5_uc002ekn.2_Missense_Mutation_p.V533M|NLRC5_uc002ekl.2_Missense_Mutation_p.V589M|NLRC5_uc002ekm.2_Missense_Mutation_p.V589M|NLRC5_uc010ccr.1_RNA NM_032206 NP_115582 Q86WI3 NLRC5_HUMAN nucleotide-binding oligomerization domains 27 784 LRR 4. defense response to virus|innate immune response|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|negative regulation of type I interferon-mediated signaling pathway|positive regulation of interferon-gamma-mediated signaling pathway|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type I interferon-mediated signaling pathway|regulation of kinase activity cytosol|nucleus ATP binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding ovary(4)|skin(2)|breast(1) 7 all_neural(199;0.225) CAGCATCTGCGTGTCAACCCT 0.577 NaN 0 0 0 0.043863 0 20 58 DOK4 55715 broad.mit.edu 37 16 57508776 57508776 + Silent SNP G G A TCGA-DK-A1AB-01A-11D-A13W-08 TCGA-DK-A1AB-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f0fb2ba-0351-4ce0-8b74-31aa3deecae1 6bb1a3eb-1659-4df1-935d-f8b2d710ace4 g.chr16:57508776G>A uc010cdb.2 - 5 826 c.528C>T c.(526-528)CTC>CTT p.L176L DOK4_uc002elu.1_Silent_p.L176L|DOK4_uc002elv.3_Silent_p.L176L NM_018110 NP_060580 Q8TEW6 DOK4_HUMAN docking protein 4 176 IRS-type PTB. insulin receptor binding skin(1) 1 GCCACGAGACGAGCTTCACAC 0.637 NaN 0 0 0 0.080935 0 11 30 CCDC135 84229 broad.mit.edu 37 16 57757006 57757006 + Missense_Mutation SNP G G A TCGA-DK-A1AB-01A-11D-A13W-08 TCGA-DK-A1AB-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f0fb2ba-0351-4ce0-8b74-31aa3deecae1 6bb1a3eb-1659-4df1-935d-f8b2d710ace4 g.chr16:57757006G>A uc002emi.2 + 11 1590 c.1501G>A c.(1501-1503)GAC>AAC p.D501N CCDC135_uc002emj.2_Missense_Mutation_p.D501N|CCDC135_uc002emk.2_Missense_Mutation_p.D436N NM_032269 NP_115645 Q8IY82 CC135_HUMAN coiled-coil domain containing 135 501 cytoplasm central_nervous_system(1) 1 CCTGAAGACAGACTACTTCAA 0.577 NaN 0 0 0 0.144211 0 31 75 CCDC113 29070 broad.mit.edu 37 16 58292407 58292407 + Missense_Mutation SNP G G A rs151051990 TCGA-DK-A1AB-01A-11D-A13W-08 TCGA-DK-A1AB-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f0fb2ba-0351-4ce0-8b74-31aa3deecae1 6bb1a3eb-1659-4df1-935d-f8b2d710ace4 g.chr16:58292407G>A uc002ene.2 + 4 605 c.526G>A c.(526-528)GAG>AAG p.E176K CCDC113_uc010vid.1_Missense_Mutation_p.E122K NM_014157 NP_054876 Q9H0I3 CC113_HUMAN coiled-coil domain containing 113 isoform 1 176 Potential. protein complex 0 GAAATACATTGAGGACATGAA 0.408 NaN 0 0 0 0.105934 0 13 61 ZFHX3 463 broad.mit.edu 37 16 72992824 72992824 + Silent SNP G G A TCGA-DK-A1AB-01A-11D-A13W-08 TCGA-DK-A1AB-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f0fb2ba-0351-4ce0-8b74-31aa3deecae1 6bb1a3eb-1659-4df1-935d-f8b2d710ace4 g.chr16:72992824G>A uc002fck.2 - 2 1894 c.1221C>T c.(1219-1221)ACC>ACT p.T407T ZFHX3_uc002fcl.2_Intron NM_006885 NP_008816 Q15911 ZFHX3_HUMAN zinc finger homeobox 3 isoform A 407 muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation transcription factor complex enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding ovary(2)|skin(2) 4 Ovarian(137;0.13) GTACCGAGCTGGTGAGCCCGC 0.657 NaN 0 0 0 0.104719 0 40 106 CDYL2 124359 broad.mit.edu 37 16 80666970 80666970 + Missense_Mutation SNP G G T TCGA-DK-A1AB-01A-11D-A13W-08 TCGA-DK-A1AB-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f0fb2ba-0351-4ce0-8b74-31aa3deecae1 6bb1a3eb-1659-4df1-935d-f8b2d710ace4 g.chr16:80666970G>T uc002ffs.2 - 3 885 c.780C>A c.(778-780)TTC>TTA p.F260L NM_152342 NP_689555 Q8N8U2 CDYL2_HUMAN chromodomain protein, Y-like 2 260 nucleus catalytic activity|protein binding central_nervous_system(1) 1 GGATGTGCGTGAACCCTTCTT 0.552 NaN 1 0 5.45727e-16 0.134883 6.1106e-16 31 85 SMG6 23293 broad.mit.edu 37 17 2202737 2202737 + Missense_Mutation SNP C C A TCGA-DK-A1AB-01A-11D-A13W-08 TCGA-DK-A1AB-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f0fb2ba-0351-4ce0-8b74-31aa3deecae1 6bb1a3eb-1659-4df1-935d-f8b2d710ace4 g.chr17:2202737C>A uc002fub.1 - 2 1365 c.1310G>T c.(1309-1311)GGA>GTA p.G437V SMG6_uc002fud.1_Missense_Mutation_p.G406V NM_017575 NP_060045 Q86US8 EST1A_HUMAN Smg-6 homolog, nonsense mediated mRNA decay 437 Interaction with telomeric DNA. mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation|telomere maintenance chromosome, telomeric region|cytosol|nucleolus|telomerase holoenzyme complex endoribonuclease activity|metal ion binding|protein binding|telomeric DNA binding central_nervous_system(2)|lung(1)|kidney(1) 4 ACTACCAGATCCAAACAAAAG 0.542 NaN 1 0 1.96642e-18 0.092188 2.22534e-18 42 78 SRR 63826 broad.mit.edu 37 17 2222174 2222174 + Missense_Mutation SNP C C G TCGA-DK-A1AB-01A-11D-A13W-08 TCGA-DK-A1AB-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f0fb2ba-0351-4ce0-8b74-31aa3deecae1 6bb1a3eb-1659-4df1-935d-f8b2d710ace4 g.chr17:2222174C>G uc002fue.1 + 4 418 c.350C>G c.(349-351)GCA>GGA p.A117G SRR_uc002fui.1_5'UTR NM_021947 NP_068766 Q9GZT4 SRR_HUMAN serine racemase 117 D-serine biosynthetic process|L-serine metabolic process|protein homotetramerization|pyruvate biosynthetic process|response to lipopolysaccharide cytoplasm|neuronal cell body|soluble fraction ATP binding|calcium ion binding|D-serine ammonia-lyase activity|glycine binding|L-serine ammonia-lyase activity|magnesium ion binding|PDZ domain binding|protein homodimerization activity|pyridoxal phosphate binding|serine racemase activity|threonine racemase activity 0 Colorectal(1115;3.46e-05)|Myeloproliferative disorder(207;0.0255) COAD - Colon adenocarcinoma(228;3.24e-06)|READ - Rectum adenocarcinoma(1115;0.0649) L-Serine(DB00133)|Pyridoxal Phosphate(DB00114) AAAAAACTTGCAATACAAGCC 0.438 NaN 0 0 0 0.139131 0 57 95 TRPV1 7442 broad.mit.edu 37 17 3494637 3494637 + Nonsense_Mutation SNP G G A TCGA-DK-A1AB-01A-11D-A13W-08 TCGA-DK-A1AB-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f0fb2ba-0351-4ce0-8b74-31aa3deecae1 6bb1a3eb-1659-4df1-935d-f8b2d710ace4 g.chr17:3494637G>A uc010vrr.1 - 2 822 c.295C>T c.(295-297)CAG>TAG p.Q99* TRPV1_uc010vro.1_Nonsense_Mutation_p.Q99*|TRPV1_uc010vrp.1_Nonsense_Mutation_p.Q99*|TRPV1_uc010vrq.1_Silent_p.P73P|TRPV1_uc010vrs.1_Nonsense_Mutation_p.Q99*|TRPV1_uc010vrt.1_Nonsense_Mutation_p.Q99*|TRPV1_uc010vru.1_Nonsense_Mutation_p.Q99* NM_080706 NP_542437 Q8NER1 TRPV1_HUMAN transient receptor potential cation channel, 99 Cytoplasmic (Potential). cell surface receptor linked signaling pathway|chemosensory behavior|thermoception cell junction|dendritic spine membrane|integral to plasma membrane|postsynaptic membrane ATP binding|calcium channel activity|calmodulin binding ovary(1) 1 Lung(1;0.055)|COAD - Colon adenocarcinoma(5;0.0896)|LUAD - Lung adenocarcinoma(1115;0.131) Alpha-Linolenic Acid(DB00132)|Aspartame(DB00168)|Icosapent(DB00159) ACAGAGTCCTGGGACAGCAGC 0.582 NaN 0 0 0 0.058154 0 10 12 ASGR1 432 broad.mit.edu 37 17 7080605 7080605 + Silent SNP G G A TCGA-DK-A1AB-01A-11D-A13W-08 TCGA-DK-A1AB-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f0fb2ba-0351-4ce0-8b74-31aa3deecae1 6bb1a3eb-1659-4df1-935d-f8b2d710ace4 g.chr17:7080605G>A uc002ges.3 - 3 521 c.111C>T c.(109-111)TCC>TCT p.S37S ASGR1_uc010clx.1_5'Flank NM_001671 NP_001662 P07306 ASGR1_HUMAN asialoglycoprotein receptor 1 37 Cytoplasmic (Probable). receptor-mediated endocytosis integral to plasma membrane asialoglycoprotein receptor activity|metal ion binding|sugar binding breast(1)|central_nervous_system(1) 2 GGCGAGGTCCGGAGCAGAGAC 0.682 NaN OREG0024128 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 0 0 0 0.115264 0 3 27 TP53 7157 broad.mit.edu 37 17 7577085 7577085 + Missense_Mutation SNP C C T rs112431538 TCGA-DK-A1AB-01A-11D-A13W-08 TCGA-DK-A1AB-10A-01D-A13W-08 C T C C Valid Somatic Phase_I WXS Fluidigm;RNASeq Illumina GAIIx 5f0fb2ba-0351-4ce0-8b74-31aa3deecae1 6bb1a3eb-1659-4df1-935d-f8b2d710ace4 g.chr17:7577085C>T uc002gim.2 - 8 1047 c.853G>A c.(853-855)GAG>AAG p.E285K TP53_uc002gig.1_Intron|TP53_uc002gih.2_Missense_Mutation_p.E285K|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.E153K|TP53_uc010cng.1_Missense_Mutation_p.E153K|TP53_uc002gii.1_Missense_Mutation_p.E153K|TP53_uc010cnh.1_Missense_Mutation_p.E285K|TP53_uc010cni.1_Missense_Mutation_p.E285K|TP53_uc002gij.2_Missense_Mutation_p.E285K NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 285 |Interaction with E4F1.|Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity). E -> K (in sporadic cancers; somatic mutation).|E -> V (in sporadic cancers; somatic mutation).|E -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation).|E -> A (in a sporadic cancer; somatic mutation).|E -> G (in sporadic cancers; somatic mutation).|E -> D (in sporadic cancers; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.E285K(95)|p.E285*(16)|p.E285V(13)|p.0?(7)|p.E285Q(4)|p.E285E(3)|p.E285G(3)|p.E285A(2)|p.?(2)|p.R283fs*16(2)|p.E285_N288delEEEN(1)|p.R282_E287delRRTEEE(1)|p.T284_G293del10(1)|p.G279fs*59(1)|p.E285fs*13(1)|p.L265_K305del41(1)|p.T284fs*57(1)|p.R283fs*56(1)|p.V272_K292del21(1)|p.R283fs*59(1)|p.C275fs*20(1)|p.E285_L289delEEENL(1)|p.E285fs*60(1)|p.E285fs*20(1) large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1) 22245 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) TTCTCTTCCTCTGTGCGCCGG 0.562 111 Mis|N|F breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types Other_conserved_DNA_damage_response_genes Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 0 0 0 0.132662 0 14 24 TP53 7157 broad.mit.edu 37 17 7578188 7578188 + Nonsense_Mutation SNP C C A TCGA-DK-A1AB-01A-11D-A13W-08 TCGA-DK-A1AB-10A-01D-A13W-08 C A C C Valid Somatic Phase_I WXS Fluidigm;RNASeq Illumina GAIIx 5f0fb2ba-0351-4ce0-8b74-31aa3deecae1 6bb1a3eb-1659-4df1-935d-f8b2d710ace4 g.chr17:7578188C>A uc002gim.2 - 6 855 c.661G>T c.(661-663)GAG>TAG p.E221* TP53_uc002gig.1_Nonsense_Mutation_p.E221*|TP53_uc002gih.2_Nonsense_Mutation_p.E221*|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Nonsense_Mutation_p.E89*|TP53_uc010cng.1_Nonsense_Mutation_p.E89*|TP53_uc002gii.1_Nonsense_Mutation_p.E89*|TP53_uc010cnh.1_Nonsense_Mutation_p.E221*|TP53_uc010cni.1_Nonsense_Mutation_p.E221*|TP53_uc002gij.2_Nonsense_Mutation_p.E221*|TP53_uc010cnj.1_Intron|TP53_uc002gin.2_Nonsense_Mutation_p.E128*|TP53_uc002gio.2_Nonsense_Mutation_p.E89*|TP53_uc010vug.1_Nonsense_Mutation_p.E182* NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 221 Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity). E -> D (in sporadic cancers; somatic mutation).|E -> G (in sporadic cancers; somatic mutation).|E -> K (in sporadic cancers; somatic mutation).|E -> Q (in sporadic cancers; somatic mutation).|E -> A (in sporadic cancers; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.0?(7)|p.E221*(5)|p.E221fs*4(3)|p.E221G(2)|p.E221K(2)|p.E221D(2)|p.E221fs*26(2)|p.E221E(2)|p.Y220_P223delYEPP(1)|p.?(1)|p.E221fs*2(1)|p.V218_E224delVPYEPPE(1)|p.V218_E221delVPYE(1)|p.Y220fs*25(1)|p.V218fs*26(1) large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1) 22245 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) TCAGGCGGCTCATAGGGCACC 0.552 111 Mis|N|F breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types Other_conserved_DNA_damage_response_genes Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 1 0 2.31682e-05 0.132662 2.54931e-05 15 15 MED24 9862 broad.mit.edu 37 17 38187864 38187864 + Missense_Mutation SNP C C G TCGA-DK-A1AB-01A-11D-A13W-08 TCGA-DK-A1AB-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f0fb2ba-0351-4ce0-8b74-31aa3deecae1 6bb1a3eb-1659-4df1-935d-f8b2d710ace4 g.chr17:38187864C>G uc002htt.2 - 11 1307 c.994G>C c.(994-996)GAG>CAG p.E332Q MED24_uc010wes.1_Missense_Mutation_p.E192Q|MED24_uc010wet.1_Intron|MED24_uc002hts.2_Missense_Mutation_p.E357Q|MED24_uc002htu.2_Missense_Mutation_p.E319Q|MED24_uc010cwn.2_Missense_Mutation_p.E319Q|MED24_uc010weu.1_Missense_Mutation_p.E242Q|MED24_uc010wev.1_Missense_Mutation_p.E282Q|MED24_uc010wew.1_Missense_Mutation_p.E261Q|MED24_uc010wex.1_Missense_Mutation_p.E37Q NM_014815 NP_055630 O75448 MED24_HUMAN mediator complex subunit 24 isoform 1 332 androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|transcription initiation from RNA polymerase II promoter mediator complex ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding ovary(1) 1 Colorectal(19;0.000442) TTGACATCCTCAGTGAAGTCC 0.567 NaN 0 0 0 0.038395 0 17 69 TMEM99 147184 broad.mit.edu 37 17 38991464 38991464 + Silent SNP C C T TCGA-DK-A1AB-01A-11D-A13W-08 TCGA-DK-A1AB-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f0fb2ba-0351-4ce0-8b74-31aa3deecae1 6bb1a3eb-1659-4df1-935d-f8b2d710ace4 g.chr17:38991464C>T uc002hvj.1 + 3 1003 c.696C>T c.(694-696)CTC>CTT p.L232L NM_145274 NP_660317 Q8N816 TMM99_HUMAN transmembrane protein 99 precursor 232 Helical; (Potential). integral to membrane skin(1) 1 Breast(137;0.000301) GGCAAAGCCTCATATTACTCT 0.398 NaN 0 0 0 0.104719 0 45 59 SCN4A 6329 broad.mit.edu 37 17 62020202 62020202 + Silent SNP G G A TCGA-DK-A1AB-01A-11D-A13W-08 TCGA-DK-A1AB-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f0fb2ba-0351-4ce0-8b74-31aa3deecae1 6bb1a3eb-1659-4df1-935d-f8b2d710ace4 g.chr17:62020202G>A uc002jds.1 - 23 4349 c.4272C>T c.(4270-4272)GTC>GTT p.V1424V NM_000334 NP_000325 P35499 SCN4A_HUMAN voltage-gated sodium channel type 4 alpha 1424 Helical; Name=S3 of repeat IV; (Potential).|IV. muscle contraction voltage-gated sodium channel complex voltage-gated sodium channel activity ovary(1)|pancreas(1)|skin(1) 3 Lamotrigine(DB00555) TGGACAGGATGACGACCACGA 0.602 NaN 0 0 0 0.021553 0 6 22 SGSH 6448 broad.mit.edu 37 17 78188482 78188482 + Silent SNP G G C TCGA-DK-A1AB-01A-11D-A13W-08 TCGA-DK-A1AB-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f0fb2ba-0351-4ce0-8b74-31aa3deecae1 6bb1a3eb-1659-4df1-935d-f8b2d710ace4 g.chr17:78188482G>C uc002jxz.3 - 4 525 c.438C>G c.(436-438)CTC>CTG p.L146L SGSH_uc002jya.3_5'UTR|SGSH_uc002jxy.2_Silent_p.L146L|SGSH_uc010wue.1_Missense_Mutation_p.S158C NM_000199 NP_000190 P51688 SPHM_HUMAN N-sulfoglucosamine sulfohydrolase precursor 146 L -> P (in MPS3A; severe). proteoglycan metabolic process lysosome metal ion binding|N-sulfoglucosamine sulfohydrolase activity|sulfuric ester hydrolase activity ovary(1)|central_nervous_system(1) 2 all_neural(118;0.0952) OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.0908) GCCCCACCTGGAGGACGGAGC 0.612 NaN 0 0 0 0.105934 0 13 30 POTEC 388468 broad.mit.edu 37 18 14513764 14513764 + Missense_Mutation SNP C C T TCGA-DK-A1AB-01A-11D-A13W-08 TCGA-DK-A1AB-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f0fb2ba-0351-4ce0-8b74-31aa3deecae1 6bb1a3eb-1659-4df1-935d-f8b2d710ace4 g.chr18:14513764C>T uc010dln.2 - 10 1884 c.1430G>A c.(1429-1431)CGG>CAG p.R477Q POTEC_uc010xaj.1_RNA NM_001137671 NP_001131143 B2RU33 POTEC_HUMAN ANKRD26-like family B, member 2 477 skin(3) 3 AAGTTGTTTCCGGGTATCATT 0.358 NaN 0 0 0 0.009096 0 4 48 ZNF57 126295 broad.mit.edu 37 19 2918122 2918122 + Missense_Mutation SNP G G C TCGA-DK-A1AB-01A-11D-A13W-08 TCGA-DK-A1AB-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f0fb2ba-0351-4ce0-8b74-31aa3deecae1 6bb1a3eb-1659-4df1-935d-f8b2d710ace4 g.chr19:2918122G>C uc002lwr.2 + 4 1651 c.1503G>C c.(1501-1503)GAG>GAC p.E501D ZNF57_uc010xha.1_Missense_Mutation_p.E469D NM_173480 NP_775751 Q68EA5 ZNF57_HUMAN zinc finger protein 57 501 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding upper_aerodigestive_tract(1)|ovary(1)|skin(1) 3 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|GBM - Glioblastoma multiforme(1328;0.00161)|STAD - Stomach adenocarcinoma(1328;0.18) ACACTGGAGAGAAACCTCACA 0.463 NaN 0 0 0 0.108266 0 29 37 MUC16 94025 broad.mit.edu 37 19 9061174 9061174 + Missense_Mutation SNP G G C TCGA-DK-A1AB-01A-11D-A13W-08 TCGA-DK-A1AB-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f0fb2ba-0351-4ce0-8b74-31aa3deecae1 6bb1a3eb-1659-4df1-935d-f8b2d710ace4 g.chr19:9061174G>C uc002mkp.2 - 3 26476 c.26272C>G c.(26272-26274)CAA>GAA p.Q8758E NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 8760 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 ATTGTGGATTGAGCAGGACCT 0.498 NaN 0 0 0 0.062417 0 22 47 CD97 976 broad.mit.edu 37 19 14516631 14516631 + Silent SNP C C T TCGA-DK-A1AB-01A-11D-A13W-08 TCGA-DK-A1AB-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f0fb2ba-0351-4ce0-8b74-31aa3deecae1 6bb1a3eb-1659-4df1-935d-f8b2d710ace4 g.chr19:14516631C>T uc002myl.2 + 14 1824 c.1701C>T c.(1699-1701)CTC>CTT p.L567L CD97_uc002mym.2_Silent_p.L518L|CD97_uc002myn.2_Silent_p.L474L NM_078481 NP_510966 P48960 CD97_HUMAN CD97 antigen isoform 1 precursor 567 Helical; Name=1; (Potential). cell adhesion|cell-cell signaling|cellular component movement|immune response|inflammatory response|neuropeptide signaling pathway extracellular space|integral to plasma membrane calcium ion binding|G-protein coupled receptor activity|protein binding ovary(3)|breast(1) 4 TGTGCATCCTCACTTTCCTGC 0.632 NaN 0 0 0 0.116897 0 23 79 PLVAP 83483 broad.mit.edu 37 19 17487865 17487865 + Missense_Mutation SNP G G A TCGA-DK-A1AB-01A-11D-A13W-08 TCGA-DK-A1AB-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f0fb2ba-0351-4ce0-8b74-31aa3deecae1 6bb1a3eb-1659-4df1-935d-f8b2d710ace4 g.chr19:17487865G>A uc002ngk.1 - 1 283 c.233C>T c.(232-234)ACG>ATG p.T78M NM_031310 NP_112600 Q9BX97 PLVAP_HUMAN plasmalemma vesicle associated protein 78 Extracellular (Potential). caveola|integral to membrane|perinuclear region of cytoplasm 0 CTGGGAGGCCGTGAGCCCTAG 0.617 NaN 0 0 0 0.069234 0 10 32 ZNF493 284443 broad.mit.edu 37 19 21606279 21606279 + Missense_Mutation SNP C C G TCGA-DK-A1AB-01A-11D-A13W-08 TCGA-DK-A1AB-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f0fb2ba-0351-4ce0-8b74-31aa3deecae1 6bb1a3eb-1659-4df1-935d-f8b2d710ace4 g.chr19:21606279C>G uc002npx.2 + 2 714 c.434C>G c.(433-435)TCT>TGT p.S145C ZNF493_uc002npw.2_Missense_Mutation_p.S273C|ZNF493_uc002npy.2_Missense_Mutation_p.S145C NM_175910 NP_787106 Q6ZR52 ZN493_HUMAN zinc finger protein 493 isoform 1 145 C2H2-type 5. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 TGTGGCACATCTTTCTACCAA 0.348 NaN 0 0 0 0.144211 0 31 106 PDCD2L 84306 broad.mit.edu 37 19 34900411 34900411 + Missense_Mutation SNP C C A TCGA-DK-A1AB-01A-11D-A13W-08 TCGA-DK-A1AB-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f0fb2ba-0351-4ce0-8b74-31aa3deecae1 6bb1a3eb-1659-4df1-935d-f8b2d710ace4 g.chr19:34900411C>A uc002nvj.2 + 4 715 c.682C>A c.(682-684)CAA>AAA p.Q228K NM_032346 NP_115722 Q9BRP1 PDD2L_HUMAN programmed cell death 2-like 228 cytoplasm ovary(1) 1 Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.211) GTTGCTTTCCCAAAGGTGAGG 0.507 NaN 1 0 0.00909568 0.009096 0.00983818 4 44 RYR1 6261 broad.mit.edu 37 19 39001344 39001344 + Silent SNP C C G TCGA-DK-A1AB-01A-11D-A13W-08 TCGA-DK-A1AB-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f0fb2ba-0351-4ce0-8b74-31aa3deecae1 6bb1a3eb-1659-4df1-935d-f8b2d710ace4 g.chr19:39001344C>G uc002oit.2 + 60 9175 c.9045C>G c.(9043-9045)CTC>CTG p.L3015L RYR1_uc002oiu.2_Silent_p.L3015L|RYR1_uc002oiv.1_5'UTR|RYR1_uc010xuf.1_5'Flank NM_000540 NP_000531 P21817 RYR1_HUMAN skeletal muscle ryanodine receptor isoform 1 3015 Cytoplasmic. muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity ovary(7)|pancreas(2)|breast(1)|central_nervous_system(1)|skin(1) 12 all_cancers(60;7.91e-06) Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272) Dantrolene(DB01219) ACCACTGCCTCTATTTCTTGT 0.567 NaN 0 0 0 0.139131 0 46 152 EID2B 126272 broad.mit.edu 37 19 40023151 40023151 + Missense_Mutation SNP C C G TCGA-DK-A1AB-01A-11D-A13W-08 TCGA-DK-A1AB-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f0fb2ba-0351-4ce0-8b74-31aa3deecae1 6bb1a3eb-1659-4df1-935d-f8b2d710ace4 g.chr19:40023151C>G uc002olz.1 - 1 344 c.292G>C c.(292-294)GAG>CAG p.E98Q NM_152361 NP_689574 Q96D98 EID2B_HUMAN EP300 interacting inhibitor of differentiation 98 cell differentiation|muscle organ development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus 0 all_cancers(60;4.04e-06)|all_lung(34;1.77e-07)|Lung NSC(34;2.09e-07)|all_epithelial(25;1.13e-05)|Ovarian(47;0.159) Epithelial(26;8.61e-26)|all cancers(26;2.76e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657) TCCAGATACTCGCGGAACAAC 0.612 NaN 0 0 0 0.038147 0 7 52 MEGF8 1954 broad.mit.edu 37 19 42848852 42848852 + Nonsense_Mutation SNP C C G TCGA-DK-A1AB-01A-11D-A13W-08 TCGA-DK-A1AB-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f0fb2ba-0351-4ce0-8b74-31aa3deecae1 6bb1a3eb-1659-4df1-935d-f8b2d710ace4 g.chr19:42848852C>G uc002otl.3 + 12 2599 c.1964C>G c.(1963-1965)TCA>TGA p.S655* MEGF8_uc002otm.3_Nonsense_Mutation_p.S196* NM_001410 NP_001401 Q7Z7M0 MEGF8_HUMAN multiple EGF-like-domains 8 705 Extracellular (Potential). integral to membrane calcium ion binding|structural molecule activity ovary(1) 1 Prostate(69;0.00682) GAGCAGATCTCAGGCACTGTG 0.687 NaN 0 0 0 0.0333 0 13 43 CEACAM1 634 broad.mit.edu 37 19 43026092 43026092 + Silent SNP G G A TCGA-DK-A1AB-01A-11D-A13W-08 TCGA-DK-A1AB-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f0fb2ba-0351-4ce0-8b74-31aa3deecae1 6bb1a3eb-1659-4df1-935d-f8b2d710ace4 g.chr19:43026092G>A uc002otv.2 - 3 800 c.687C>T c.(685-687)GTC>GTT p.V229V uc010eif.1_Intron|uc002ott.1_Intron|uc010eig.1_Intron|uc010eih.1_Intron|CEACAM1_uc010eii.2_5'Flank|CEACAM1_uc002otw.2_Silent_p.V229V|CEACAM1_uc010eij.2_Silent_p.V229V|CEACAM1_uc002otx.2_Silent_p.V229V|CEACAM1_uc002oty.2_Silent_p.V229V|CEACAM1_uc002otz.2_Silent_p.V229V|CEACAM1_uc010eik.2_Intron|CEACAM1_uc002oua.2_Silent_p.V229V|CEACAM1_uc002oub.2_Silent_p.V229V|CEACAM1_uc002ouc.2_Silent_p.V229V NM_001712 NP_001703 P13688 CEAM1_HUMAN carcinoembryonic antigen-related cell adhesion 229 Ig-like C2-type 1.|Extracellular (Potential). angiogenesis|cell migration|homophilic cell adhesion|integrin-mediated signaling pathway extracellular region|integral to plasma membrane|membrane fraction ovary(1)|central_nervous_system(1) 2 Prostate(69;0.00682) GBM - Glioblastoma multiforme(486;0.00148) Arcitumomab(DB00113) CATTCAAGGTGACTGGGTCAC 0.557 NaN 0 0 0 0.092188 0 40 131 ZNF575 284346 broad.mit.edu 37 19 44039832 44039832 + Missense_Mutation SNP G G C TCGA-DK-A1AB-01A-11D-A13W-08 TCGA-DK-A1AB-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f0fb2ba-0351-4ce0-8b74-31aa3deecae1 6bb1a3eb-1659-4df1-935d-f8b2d710ace4 g.chr19:44039832G>C uc002ows.2 + 4 1259 c.731G>C c.(730-732)AGA>ACA p.R244T ZNF575_uc002owq.2_Missense_Mutation_p.R343T NM_174945 NP_777605 Q86XF7 ZN575_HUMAN zinc finger protein 575 244 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 Prostate(69;0.0199) AAGGGGGAGAGAGACTGAGCC 0.612 NaN 0 0 0 0.021553 0 5 19 CBLC 23624 broad.mit.edu 37 19 45285644 45285644 + Silent SNP C C G TCGA-DK-A1AB-01A-11D-A13W-08 TCGA-DK-A1AB-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f0fb2ba-0351-4ce0-8b74-31aa3deecae1 6bb1a3eb-1659-4df1-935d-f8b2d710ace4 g.chr19:45285644C>G uc002ozs.2 + 4 738 c.675C>G c.(673-675)CTC>CTG p.L225L CBLC_uc010ejt.2_Silent_p.L225L NM_012116 NP_036248 Q9ULV8 CBLC_HUMAN Cas-Br-M (murine) ecotropic retroviral 225 SH2-like.|Cbl-PTB. cell surface receptor linked signaling pathway|negative regulation of epidermal growth factor receptor activity|negative regulation of MAP kinase activity|protein ubiquitination involved in ubiquitin-dependent protein catabolic process nucleus calcium ion binding|epidermal growth factor receptor binding|phosphotyrosine binding|SH3 domain binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding ovary(4)|lung(1)|skin(1) 6 Lung NSC(12;0.00136)|all_lung(12;0.00371) Ovarian(192;0.231) CAACACTCCTCAAGAACTGGC 0.612 NaN M AML 0 0 0 0.144211 0 25 122 TBC1D17 79735 broad.mit.edu 37 19 50387619 50387619 + Silent SNP C C T TCGA-DK-A1AB-01A-11D-A13W-08 TCGA-DK-A1AB-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f0fb2ba-0351-4ce0-8b74-31aa3deecae1 6bb1a3eb-1659-4df1-935d-f8b2d710ace4 g.chr19:50387619C>T uc002pqo.2 + 11 1388 c.1236C>T c.(1234-1236)TTC>TTT p.F412F TBC1D17_uc010ybg.1_Silent_p.F379F|TBC1D17_uc002pqp.2_Silent_p.F63F|TBC1D17_uc002pqq.1_RNA|TBC1D17_uc002pqr.2_Silent_p.F63F|TBC1D17_uc002pqs.2_RNA NM_024682 NP_078958 Q9HA65 TBC17_HUMAN TBC1 domain family, member 17 412 Rab-GAP TBC. intracellular Rab GTPase activator activity 0 all_lung(116;0.000338)|Lung NSC(112;0.000446)|all_neural(266;0.107)|Ovarian(192;0.231) GBM - Glioblastoma multiforme(134;0.0116)|OV - Ovarian serous cystadenocarcinoma(262;0.017) TGTATCACTTCGACCTCGGTG 0.662 NaN 0 0 0 0.139131 0 51 207 KLK3 354 broad.mit.edu 37 19 51361378 51361378 + Silent SNP C C G rs2739452 TCGA-DK-A1AB-01A-11D-A13W-08 TCGA-DK-A1AB-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f0fb2ba-0351-4ce0-8b74-31aa3deecae1 6bb1a3eb-1659-4df1-935d-f8b2d710ace4 g.chr19:51361378C>G uc002pts.1 + 3 341 c.300C>G c.(298-300)CTC>CTG p.L100L KLK3_uc010ycj.1_Silent_p.L100L|KLK3_uc002ptr.1_Intron|KLK3_uc010eof.1_Intron NM_001030047 NP_001025218 P07288 KLK3_HUMAN prostate specific antigen isoform 3 100 Peptidase S1. negative regulation of angiogenesis|proteolysis extracellular region serine-type endopeptidase activity upper_aerodigestive_tract(1)|ovary(1)|kidney(1) 3 all_neural(266;0.057) OV - Ovarian serous cystadenocarcinoma(262;0.00763)|GBM - Glioblastoma multiforme(134;0.0144) CACACCCGCTCTACGATATGA 0.582 NaN 0 0 0 0.021553 0 6 46 LILRA3 11026 broad.mit.edu 37 19 54802062 54802062 + Missense_Mutation SNP G G A TCGA-DK-A1AB-01A-11D-A13W-08 TCGA-DK-A1AB-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f0fb2ba-0351-4ce0-8b74-31aa3deecae1 6bb1a3eb-1659-4df1-935d-f8b2d710ace4 g.chr19:54802062G>A uc002qfd.2 - 6 1191 c.1126C>T c.(1126-1128)CAT>TAT p.H376Y LILRA6_uc002qew.1_Intron|LILRA3_uc010erk.2_Missense_Mutation_p.H312Y NM_006865 NP_006856 Q8N6C8 LIRA3_HUMAN leukocyte immunoglobulin-like receptor, 376 Ig-like C2-type 4. defense response extracellular region|plasma membrane antigen binding|receptor activity ovary(1) 1 Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.105) TGGTACTTATGAGATTGGCGC 0.577 NaN 0 0 0 0.059317 0 33 103 TTYH1 57348 broad.mit.edu 37 19 54932504 54932504 + Missense_Mutation SNP C C G TCGA-DK-A1AB-01A-11D-A13W-08 TCGA-DK-A1AB-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f0fb2ba-0351-4ce0-8b74-31aa3deecae1 6bb1a3eb-1659-4df1-935d-f8b2d710ace4 g.chr19:54932504C>G uc002qfq.2 + 3 451 c.359C>G c.(358-360)TCC>TGC p.S120C TTYH1_uc010yey.1_Missense_Mutation_p.S169C|TTYH1_uc002qfr.2_Missense_Mutation_p.S120C|TTYH1_uc002qft.2_Missense_Mutation_p.S120C|TTYH1_uc002qfu.1_Missense_Mutation_p.S35C NM_020659 NP_065710 Q9H313 TTYH1_HUMAN tweety 1 isoform 1 120 Extracellular (Potential). cell adhesion chloride channel complex|plasma membrane chloride channel activity|iron ion transmembrane transporter activity 0 Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.0767) GATGGGGTGTCCCAGCTCAGC 0.627 NaN 0 0 0 0.058154 0 10 60 NLRP9 338321 broad.mit.edu 37 19 56243927 56243927 + Missense_Mutation SNP C C G TCGA-DK-A1AB-01A-11D-A13W-08 TCGA-DK-A1AB-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f0fb2ba-0351-4ce0-8b74-31aa3deecae1 6bb1a3eb-1659-4df1-935d-f8b2d710ace4 g.chr19:56243927C>G uc002qly.2 - 2 1298 c.1270G>C c.(1270-1272)GAG>CAG p.E424Q NM_176820 NP_789790 Q7RTR0 NALP9_HUMAN NLR family, pyrin domain containing 9 424 NACHT. cytoplasm ATP binding skin(4)|ovary(2)|breast(1) 7 Colorectal(82;0.000133)|Ovarian(87;0.133) GBM - Glioblastoma multiforme(193;0.123) ATCACGCCCTCAGACTCAGAT 0.483 NaN 0 0 0 0.139131 0 49 187 ZNF582 147948 broad.mit.edu 37 19 56895710 56895710 + Missense_Mutation SNP C C T TCGA-DK-A1AB-01A-11D-A13W-08 TCGA-DK-A1AB-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f0fb2ba-0351-4ce0-8b74-31aa3deecae1 6bb1a3eb-1659-4df1-935d-f8b2d710ace4 g.chr19:56895710C>T uc002qmz.1 - 5 1235 c.1076G>A c.(1075-1077)AGA>AAA p.R359K ZNF582_uc002qmy.2_Missense_Mutation_p.R390K NM_144690 NP_653291 Q96NG8 ZN582_HUMAN zinc finger protein 582 359 C2H2-type 7. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(3)|large_intestine(1) 4 Colorectal(82;0.000256)|Ovarian(87;0.243) GBM - Glioblastoma multiforme(193;0.0547) GGTATGAATTCTCTGATGTCG 0.418 NaN 0 0 0 0.083992 0 25 193 ZNF418 147686 broad.mit.edu 37 19 58438051 58438051 + Missense_Mutation SNP G G A TCGA-DK-A1AB-01A-11D-A13W-08 TCGA-DK-A1AB-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f0fb2ba-0351-4ce0-8b74-31aa3deecae1 6bb1a3eb-1659-4df1-935d-f8b2d710ace4 g.chr19:58438051G>A uc002qqs.1 - 4 1790 c.1498C>T c.(1498-1500)CAT>TAT p.H500Y ZNF418_uc010yhn.1_RNA|ZNF418_uc010yho.1_Missense_Mutation_p.H415Y NM_133460 NP_597717 Q8TF45 ZN418_HUMAN zinc finger protein 418 500 C2H2-type 11. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0158) ACTCTCTGATGAACACGAAAC 0.448 NaN 0 0 0 0.139131 0 150 94 ZBTB45 84878 broad.mit.edu 37 19 59028353 59028353 + Missense_Mutation SNP C C T TCGA-DK-A1AB-01A-11D-A13W-08 TCGA-DK-A1AB-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f0fb2ba-0351-4ce0-8b74-31aa3deecae1 6bb1a3eb-1659-4df1-935d-f8b2d710ace4 g.chr19:59028353C>T uc002qtd.2 - 2 980 c.688G>A c.(688-690)GAG>AAG p.E230K ZBTB45_uc002qte.2_Missense_Mutation_p.E230K|ZBTB45_uc002qtf.2_Missense_Mutation_p.E230K NM_032792 NP_116181 Q96K62 ZBT45_HUMAN zinc finger and BTB domain containing 45 230 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0165)|Lung(386;0.18) GCCTGGCCCTCGCCTGGGCCG 0.672 NaN OREG0025700 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 0 0 0 0.139131 0 51 270 NTSR2 23620 broad.mit.edu 37 2 11798719 11798719 + Silent SNP G G A TCGA-DK-A1AB-01A-11D-A13W-08 TCGA-DK-A1AB-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f0fb2ba-0351-4ce0-8b74-31aa3deecae1 6bb1a3eb-1659-4df1-935d-f8b2d710ace4 g.chr2:11798719G>A uc002rbq.3 - 4 1193 c.1119C>T c.(1117-1119)GTC>GTT p.V373V NM_012344 NP_036476 O95665 NTR2_HUMAN neurotensin receptor 2 373 Cytoplasmic (Potential). sensory perception integral to plasma membrane 0 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) Epithelial(75;0.129)|OV - Ovarian serous cystadenocarcinoma(76;0.24) Levocabastine(DB01106) ACAGGGAGCTGACGGCTTCCA 0.562 NaN 0 0 0 0.083992 0 21 66 APOB 338 broad.mit.edu 37 2 21233133 21233133 + Missense_Mutation SNP C C G TCGA-DK-A1AB-01A-11D-A13W-08 TCGA-DK-A1AB-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f0fb2ba-0351-4ce0-8b74-31aa3deecae1 6bb1a3eb-1659-4df1-935d-f8b2d710ace4 g.chr2:21233133C>G uc002red.2 - 26 6735 c.6607G>C c.(6607-6609)GAT>CAT p.D2203H NM_000384 NP_000375 P04114 APOB_HUMAN apolipoprotein B precursor 2203 cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity 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) ATGATTTCATCAATAATATTA 0.239 NaN 0 0 0 0.076483 0 24 56 CAD 790 broad.mit.edu 37 2 27460592 27460592 + Missense_Mutation SNP G G A TCGA-DK-A1AB-01A-11D-A13W-08 TCGA-DK-A1AB-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f0fb2ba-0351-4ce0-8b74-31aa3deecae1 6bb1a3eb-1659-4df1-935d-f8b2d710ace4 g.chr2:27460592G>A uc002rji.2 + 29 4732 c.4570G>A c.(4570-4572)GAG>AAG p.E1524K CAD_uc010eyw.2_Missense_Mutation_p.E1461K NM_004341 NP_004332 P27708 PYR1_HUMAN carbamoylphosphate synthetase 2/aspartate 1524 DHOase (dihydroorotase). 'de novo' pyrimidine base biosynthetic process|drug metabolic process|glutamine metabolic process|peptidyl-threonine phosphorylation|protein autophosphorylation|pyrimidine nucleoside biosynthetic process|pyrimidine nucleotide biosynthetic process cytosol|neuronal cell body|nuclear matrix|terminal button aspartate binding|aspartate carbamoyltransferase activity|ATP binding|carbamoyl-phosphate synthase (glutamine-hydrolyzing) activity|dihydroorotase activity|enzyme binding|identical protein binding|metal ion binding|protein kinase activity ovary(4)|large_intestine(2)|kidney(2)|lung(1)|pancreas(1) 10 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) L-Aspartic Acid(DB00128)|L-Glutamine(DB00130) CCAGCTGGCAGAGGCTGGCGC 0.647 NaN 0 0 0 0.09319 0 12 32 SRBD1 55133 broad.mit.edu 37 2 45826690 45826690 + Missense_Mutation SNP C C G TCGA-DK-A1AB-01A-11D-A13W-08 TCGA-DK-A1AB-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f0fb2ba-0351-4ce0-8b74-31aa3deecae1 6bb1a3eb-1659-4df1-935d-f8b2d710ace4 g.chr2:45826690C>G uc002rus.2 - 4 622 c.546G>C c.(544-546)AAG>AAC p.K182N NM_018079 NP_060549 Q8N5C6 SRBD1_HUMAN S1 RNA binding domain 1 182 nucleobase, nucleoside, nucleotide and nucleic acid metabolic process hydrolase activity, acting on ester bonds|RNA binding central_nervous_system(1) 1 all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17) LUSC - Lung squamous cell carcinoma(58;0.0917)|Lung(47;0.154) TCTTGATTTTCTTTAAAGCGG 0.443 NaN 0 0 0 0.139131 0 56 254 FSHR 2492 broad.mit.edu 37 2 49244635 49244635 + Nonsense_Mutation SNP G G A rs138079934 byFrequency TCGA-DK-A1AB-01A-11D-A13W-08 TCGA-DK-A1AB-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f0fb2ba-0351-4ce0-8b74-31aa3deecae1 6bb1a3eb-1659-4df1-935d-f8b2d710ace4 g.chr2:49244635G>A uc002rww.2 - 4 441 c.367C>T c.(367-369)CAA>TAA p.Q123* FSHR_uc002rwx.2_Nonsense_Mutation_p.Q123*|FSHR_uc010fbn.2_Nonsense_Mutation_p.Q123*|FSHR_uc010fbo.1_RNA NM_000145 NP_000136 P23945 FSHR_HUMAN follicle stimulating hormone receptor isoform 1 123 Extracellular (Potential).|LRR 4. 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) TACAGATATTGAAGGTTGGGA 0.398 NaN Gonadal_Dysgenesis_46_XX 0 0 0 0.105934 0 14 52 SPTBN1 6711 broad.mit.edu 37 2 54874297 54874297 + Silent SNP G G A TCGA-DK-A1AB-01A-11D-A13W-08 TCGA-DK-A1AB-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f0fb2ba-0351-4ce0-8b74-31aa3deecae1 6bb1a3eb-1659-4df1-935d-f8b2d710ace4 g.chr2:54874297G>A uc002rxu.2 + 24 5145 c.4896G>A c.(4894-4896)AAG>AAA p.K1632K SPTBN1_uc002rxx.2_Silent_p.K1619K NM_003128 NP_003119 Q01082 SPTB2_HUMAN spectrin, beta, non-erythrocytic 1 isoform 1 1632 Interaction with ANK2.|Spectrin 13. 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) CCATGTTGAAGAAGCACCAGA 0.552 NaN 0 0 0 0.0918 0 25 89 LOXL3 84695 broad.mit.edu 37 2 74779555 74779555 + Silent SNP G G A TCGA-DK-A1AB-01A-11D-A13W-08 TCGA-DK-A1AB-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f0fb2ba-0351-4ce0-8b74-31aa3deecae1 6bb1a3eb-1659-4df1-935d-f8b2d710ace4 g.chr2:74779555G>A uc002smp.1 - 2 279 c.207C>T c.(205-207)ATC>ATT p.I69I LOXL3_uc002smo.1_5'Flank|LOXL3_uc010ffm.1_Silent_p.I69I|LOXL3_uc002smq.1_Silent_p.I69I|LOXL3_uc010ffn.1_Silent_p.I69I|DOK1_uc002smr.2_Intron|DOK1_uc002sms.2_5'Flank|DOK1_uc010ffo.2_5'Flank|DOK1_uc002smt.2_5'Flank|DOK1_uc002smu.2_5'Flank|DOK1_uc010yrz.1_5'Flank|DOK1_uc002smv.2_5'Flank|DOK1_uc002smw.1_5'Flank NM_032603 NP_115992 P58215 LOXL3_HUMAN lysyl oxidase-like 3 precursor 69 SRCR 1. extracellular space|membrane copper ion binding|protein-lysine 6-oxidase activity|scavenger receptor activity 0 CATCATCGCAGATGGTGCCCC 0.652 NaN 0 0 0 0.069288 0 21 46 LMAN2L 81562 broad.mit.edu 37 2 97373526 97373526 + Missense_Mutation SNP C C G TCGA-DK-A1AB-01A-11D-A13W-08 TCGA-DK-A1AB-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f0fb2ba-0351-4ce0-8b74-31aa3deecae1 6bb1a3eb-1659-4df1-935d-f8b2d710ace4 g.chr2:97373526C>G uc002swu.2 - 7 865 c.829G>C c.(829-831)GAG>CAG p.E277Q LMAN2L_uc002swv.2_Missense_Mutation_p.E288Q|LMAN2L_uc010yut.1_Missense_Mutation_p.E143Q|LMAN2L_uc010yuu.1_Missense_Mutation_p.E141Q|LMAN2L_uc010yuv.1_Missense_Mutation_p.E130Q|LMAN2L_uc010yuw.1_Missense_Mutation_p.E132Q|LMAN2L_uc002sww.2_Missense_Mutation_p.E130Q|LMAN2L_uc010yux.1_Missense_Mutation_p.E132Q NM_030805 NP_110432 Q9H0V9 LMA2L_HUMAN lectin, mannose-binding 2-like isoform 2 277 Lumenal (Potential). ER to Golgi vesicle-mediated transport|protein folding|protein transport endoplasmic reticulum membrane|ER to Golgi transport vesicle|Golgi membrane|integral to membrane mannose binding|metal ion binding 0 GGGGTTCTCTCCACTGTCAGT 0.453 NaN 0 0 0 0.086207 0 40 109 RGPD4 285190 broad.mit.edu 37 2 108488568 108488568 + Missense_Mutation SNP G G C TCGA-DK-A1AB-01A-11D-A13W-08 TCGA-DK-A1AB-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f0fb2ba-0351-4ce0-8b74-31aa3deecae1 6bb1a3eb-1659-4df1-935d-f8b2d710ace4 g.chr2:108488568G>C uc010ywk.1 + 20 4190 c.4108G>C c.(4108-4110)GAT>CAT p.D1370H RGPD4_uc002tdu.2_Missense_Mutation_p.D557H|RGPD4_uc010ywl.1_Intron NM_182588 NP_872394 Q7Z3J3 RGPD4_HUMAN RANBP2-like and GRIP domain containing 4 1370 RanBD1 2. intracellular transport binding skin(2) 2 ATATGATAAAGATGTTGGTCA 0.358 NaN 0 0 0 0.02938 0 6 373 GCC2 9648 broad.mit.edu 37 2 109100719 109100719 + Missense_Mutation SNP G G A TCGA-DK-A1AB-01A-11D-A13W-08 TCGA-DK-A1AB-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f0fb2ba-0351-4ce0-8b74-31aa3deecae1 6bb1a3eb-1659-4df1-935d-f8b2d710ace4 g.chr2:109100719G>A uc002tec.2 + 13 3719 c.3565G>A c.(3565-3567)GAA>AAA p.E1189K GCC2_uc002ted.2_Missense_Mutation_p.E1088K NM_181453 NP_852118 Q8IWJ2 GCC2_HUMAN GRIP and coiled-coil domain-containing 2 1189 Potential. Golgi ribbon formation|late endosome to Golgi transport|microtubule anchoring|microtubule organizing center organization|protein localization in Golgi apparatus|protein targeting to lysosome|recycling endosome to Golgi transport|regulation of protein exit from endoplasmic reticulum membrane|trans-Golgi network identical protein binding ovary(1) 1 TTTGGAGCAAGAAATAAAAAT 0.254 NaN 0 0 0 0.049695 0 21 50 DDX18 8886 broad.mit.edu 37 2 118582552 118582552 + Silent SNP C C T TCGA-DK-A1AB-01A-11D-A13W-08 TCGA-DK-A1AB-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f0fb2ba-0351-4ce0-8b74-31aa3deecae1 6bb1a3eb-1659-4df1-935d-f8b2d710ace4 g.chr2:118582552C>T uc002tlh.1 + 9 1342 c.1243C>T c.(1243-1245)CTG>TTG p.L415L NM_006773 NP_006764 Q9NVP1 DDX18_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 18 415 Helicase C-terminal. ATP binding|ATP-dependent RNA helicase activity|RNA binding breast(2)|ovary(1)|lung(1) 4 GAGATTCCTTCTGCTCTTTAC 0.368 NaN 0 0 0 0.074837 0 40 138 TMEM37 140738 broad.mit.edu 37 2 120194518 120194518 + Silent SNP C C T TCGA-DK-A1AB-01A-11D-A13W-08 TCGA-DK-A1AB-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f0fb2ba-0351-4ce0-8b74-31aa3deecae1 6bb1a3eb-1659-4df1-935d-f8b2d710ace4 g.chr2:120194518C>T uc002tly.2 + 2 109 c.75C>T c.(73-75)TTC>TTT p.F25F NM_183240 NP_899063 Q8WXS4 CCGL_HUMAN transmembrane protein 37 25 Helical; (Potential). integral to membrane calcium channel activity|voltage-gated ion channel activity breast(1) 1 TTGAATCCTTCATCCGGACCC 0.617 NaN 0 0 0 0.064281 0 37 57 RAB3GAP1 22930 broad.mit.edu 37 2 135883809 135883809 + Missense_Mutation SNP G G A TCGA-DK-A1AB-01A-11D-A13W-08 TCGA-DK-A1AB-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f0fb2ba-0351-4ce0-8b74-31aa3deecae1 6bb1a3eb-1659-4df1-935d-f8b2d710ace4 g.chr2:135883809G>A uc002tuj.2 + 10 914 c.889G>A c.(889-891)GAT>AAT p.D297N RAB3GAP1_uc010fnf.2_Missense_Mutation_p.D297N|RAB3GAP1_uc010fng.2_Missense_Mutation_p.D122N|RAB3GAP1_uc010fnh.1_RNA NM_012233 NP_036365 Q15042 RB3GP_HUMAN RAB3 GTPase-activating protein 297 centrosome|nucleus|soluble fraction Rab GTPase activator activity|Rab GTPase binding ovary(1)|skin(1) 2 BRCA - Breast invasive adenocarcinoma(221;0.117) TGTGGATAATGATGTTTATTC 0.308 NaN 0 0 0 0.116897 0 28 86 NEB 4703 broad.mit.edu 37 2 152349881 152349881 + Missense_Mutation SNP C C T TCGA-DK-A1AB-01A-11D-A13W-08 TCGA-DK-A1AB-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f0fb2ba-0351-4ce0-8b74-31aa3deecae1 6bb1a3eb-1659-4df1-935d-f8b2d710ace4 g.chr2:152349881C>T uc010fnx.2 - 143 19374 c.19183G>A c.(19183-19185)GAA>AAA p.E6395K NEB_uc002txr.2_Intron|RIF1_uc002txp.2_Intron|NEB_uc010zbz.1_Missense_Mutation_p.E164K|NEB_uc002txq.2_Missense_Mutation_p.E274K|NEB_uc010zca.1_Missense_Mutation_p.E226K|NEB_uc010zcb.1_Missense_Mutation_p.E164K NM_004543 NP_004534 P20929 NEBU_HUMAN nebulin isoform 3 6395 Nebulin 176. 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) CTAATGTTTTCTTGGTTGCGC 0.383 NaN 0 0 0 0.132662 0 14 40 NOSTRIN 115677 broad.mit.edu 37 2 169717349 169717349 + Missense_Mutation SNP G G A TCGA-DK-A1AB-01A-11D-A13W-08 TCGA-DK-A1AB-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f0fb2ba-0351-4ce0-8b74-31aa3deecae1 6bb1a3eb-1659-4df1-935d-f8b2d710ace4 g.chr2:169717349G>A uc002ueg.2 + 14 1228 c.1224G>A c.(1222-1224)ATG>ATA p.M408I NOSTRIN_uc002uef.2_Missense_Mutation_p.M465I|NOSTRIN_uc002uei.2_Missense_Mutation_p.M291I|NOSTRIN_uc010fpu.2_Missense_Mutation_p.M380I|NOSTRIN_uc002ueh.2_Missense_Mutation_p.M330I|NOSTRIN_uc002uej.2_Missense_Mutation_p.M291I|NOSTRIN_uc002uek.2_Missense_Mutation_p.M92I NM_001039724 NP_001034813 Q8IVI9 NOSTN_HUMAN nitric oxide synthase trafficker isoform 2 408 endocytosis|nitric oxide metabolic process|regulation of nitric-oxide synthase activity cytoplasmic membrane-bounded vesicle|cytoskeleton|plasma membrane protein binding 0 CTTTTTTAATGAAGAGATTAG 0.378 NaN 0 0 0 0.108266 0 26 75 TTN 7273 broad.mit.edu 37 2 179440567 179440567 + Missense_Mutation SNP C C G TCGA-DK-A1AB-01A-11D-A13W-08 TCGA-DK-A1AB-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f0fb2ba-0351-4ce0-8b74-31aa3deecae1 6bb1a3eb-1659-4df1-935d-f8b2d710ace4 g.chr2:179440567C>G uc010zfg.1 - 275 62812 c.62588G>C c.(62587-62589)AGA>ACA p.R20863T uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.R14558T|TTN_uc010zfi.1_Missense_Mutation_p.R14491T|TTN_uc010zfj.1_Missense_Mutation_p.R14366T|uc002umv.1_5'Flank NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 21790 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) GTCCAAGACTCTGACGTTCAC 0.502 NaN 0 0 0 0.139131 0 48 131 TTN 7273 broad.mit.edu 37 2 179481949 179481949 + Nonsense_Mutation SNP C C A TCGA-DK-A1AB-01A-11D-A13W-08 TCGA-DK-A1AB-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f0fb2ba-0351-4ce0-8b74-31aa3deecae1 6bb1a3eb-1659-4df1-935d-f8b2d710ace4 g.chr2:179481949C>A uc010zfg.1 - 204 40293 c.40069G>T c.(40069-40071)GAA>TAA p.E13357* TTN_uc010zfh.1_Nonsense_Mutation_p.E7052*|TTN_uc010zfi.1_Nonsense_Mutation_p.E6985*|TTN_uc010zfj.1_Nonsense_Mutation_p.E6860* NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 14284 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) TTTCCTTTTTCCAATCCGGTA 0.323 NaN 1 0 0.004672 0.115264 0.005088 3 6 TTN 7273 broad.mit.edu 37 2 179604510 179604510 + Missense_Mutation SNP C C T TCGA-DK-A1AB-01A-11D-A13W-08 TCGA-DK-A1AB-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f0fb2ba-0351-4ce0-8b74-31aa3deecae1 6bb1a3eb-1659-4df1-935d-f8b2d710ace4 g.chr2:179604510C>T uc010zfh.1 - 46 13161 c.12937G>A c.(12937-12939)GAA>AAA p.E4313K TTN_uc010zfg.1_Intron|TTN_uc010zfi.1_Missense_Mutation_p.E4246K|TTN_uc010zfj.1_Missense_Mutation_p.E4121K|TTN_uc002umz.1_Intron NM_133437 NP_597681 Q8WZ42 TITIN_HUMAN titin isoform novex-2 Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment 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) ATGTCTATTTCCTCATATATA 0.378 NaN 0 0 0 0.139131 0 62 282 TTN 7273 broad.mit.edu 37 2 179605584 179605584 + Missense_Mutation SNP C C T TCGA-DK-A1AB-01A-11D-A13W-08 TCGA-DK-A1AB-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f0fb2ba-0351-4ce0-8b74-31aa3deecae1 6bb1a3eb-1659-4df1-935d-f8b2d710ace4 g.chr2:179605584C>T uc010zfh.1 - 46 12087 c.11863G>A c.(11863-11865)GAA>AAA p.E3955K TTN_uc010zfg.1_Intron|TTN_uc010zfi.1_Missense_Mutation_p.E3888K|TTN_uc010zfj.1_Missense_Mutation_p.E3763K|TTN_uc002umz.1_Intron NM_133437 NP_597681 Q8WZ42 TITIN_HUMAN titin isoform novex-2 3883 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) CTGGTGCTTTCAGGAGTGAGC 0.448 NaN 0 0 0 0.086207 0 38 146 DNAH7 56171 broad.mit.edu 37 2 196636429 196636429 + Silent SNP C C T TCGA-DK-A1AB-01A-11D-A13W-08 TCGA-DK-A1AB-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f0fb2ba-0351-4ce0-8b74-31aa3deecae1 6bb1a3eb-1659-4df1-935d-f8b2d710ace4 g.chr2:196636429C>T uc002utj.3 - 61 11489 c.11388G>A c.(11386-11388)CTG>CTA p.L3796L DNAH7_uc002uti.3_Silent_p.L279L NM_018897 NP_061720 Q8WXX0 DYH7_HUMAN dynein, axonemal, heavy chain 7 3796 ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity skin(10)|ovary(2) 12 TTATGGTCTTCAGTAACTTAT 0.378 NaN 0 0 0 0.139131 0 71 177 SGOL2 151246 broad.mit.edu 37 2 201437629 201437629 + Missense_Mutation SNP G G C TCGA-DK-A1AB-01A-11D-A13W-08 TCGA-DK-A1AB-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f0fb2ba-0351-4ce0-8b74-31aa3deecae1 6bb1a3eb-1659-4df1-935d-f8b2d710ace4 g.chr2:201437629G>C uc002uvw.2 + 7 2673 c.2560G>C c.(2560-2562)GAA>CAA p.E854Q SGOL2_uc010zhd.1_Missense_Mutation_p.E854Q|SGOL2_uc010zhe.1_Missense_Mutation_p.E854Q NM_152524 NP_689737 Q562F6 SGOL2_HUMAN shugoshin-like 2 isoform 1 854 cell division|mitotic prometaphase condensed chromosome kinetochore|cytosol|mitotic cohesin complex protein binding ovary(2)|skin(2) 4 AACAATTTCTGAAAATCTACA 0.308 NaN 0 0 0 0.139131 0 48 144 INO80D 54891 broad.mit.edu 37 2 206884568 206884568 + Missense_Mutation SNP T T A TCGA-DK-A1AB-01A-11D-A13W-08 TCGA-DK-A1AB-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f0fb2ba-0351-4ce0-8b74-31aa3deecae1 6bb1a3eb-1659-4df1-935d-f8b2d710ace4 g.chr2:206884568T>A uc002vaz.3 - 7 1705 c.1300A>T c.(1300-1302)ATA>TTA p.I434L NM_017759 NP_060229 Q53TQ3 IN80D_HUMAN INO80 complex subunit D 434 DNA recombination|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ovary(1) 1 GTCCGGCTTATGCTAAGGAAA 0.418 NaN 0 0 0 0.02938 0 7 36 NDUFS1 4719 broad.mit.edu 37 2 207009718 207009718 + Missense_Mutation SNP A A C TCGA-DK-A1AB-01A-11D-A13W-08 TCGA-DK-A1AB-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f0fb2ba-0351-4ce0-8b74-31aa3deecae1 6bb1a3eb-1659-4df1-935d-f8b2d710ace4 g.chr2:207009718A>C uc002vbe.2 - 9 897 c.770T>G c.(769-771)GTT>GGT p.V257G NDUFS1_uc010ziq.1_Missense_Mutation_p.V271G|NDUFS1_uc010zir.1_Missense_Mutation_p.V221G|NDUFS1_uc010zis.1_Missense_Mutation_p.V200G|NDUFS1_uc010zit.1_Missense_Mutation_p.V146G|NDUFS1_uc010ziu.1_Missense_Mutation_p.V141G NM_005006 NP_004997 P28331 NDUS1_HUMAN NADH dehydrogenase (ubiquinone) Fe-S protein 1, 257 apoptosis|ATP metabolic process|mitochondrial electron transport, NADH to ubiquinone|reactive oxygen species metabolic process|regulation of mitochondrial membrane potential|transport mitochondrial intermembrane space|mitochondrial respiratory chain complex I 2 iron, 2 sulfur cluster binding|4 iron, 4 sulfur cluster binding|electron carrier activity|metal ion binding|NADH dehydrogenase (ubiquinone) activity|protein binding ovary(1) 1 NADH(DB00157) ATTACTTCCAACCGCATCCAT 0.393 NaN 0 0 0 0.049695 0 20 77 DNPEP 23549 broad.mit.edu 37 2 220246839 220246839 + Missense_Mutation SNP C C T TCGA-DK-A1AB-01A-11D-A13W-08 TCGA-DK-A1AB-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f0fb2ba-0351-4ce0-8b74-31aa3deecae1 6bb1a3eb-1659-4df1-935d-f8b2d710ace4 g.chr2:220246839C>T uc010zlg.1 - 11 1065 c.983G>A c.(982-984)GGA>GAA p.G328E DNPEP_uc010zlf.1_RNA|DNPEP_uc002vle.2_Missense_Mutation_p.G320E|DNPEP_uc002vlf.1_Missense_Mutation_p.G306E|DNPEP_uc002vlh.2_Missense_Mutation_p.G267E|DNPEP_uc002vli.1_Missense_Mutation_p.G267E NM_012100 NP_036232 Q9ULA0 DNPEP_HUMAN aspartyl aminopeptidase 310 peptide metabolic process|proteolysis cytoplasm aminopeptidase activity|metallopeptidase activity|protein binding|zinc ion binding 0 Renal(207;0.0474) Epithelial(149;1.09e-06)|all cancers(144;0.000179)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) L-Glutamic Acid(DB00142) TGACTGTGCTCCCTGTGCACT 0.602 NaN 0 0 0 0.021553 0 6 20 SH3BP4 23677 broad.mit.edu 37 2 235943740 235943740 + Missense_Mutation SNP G G A TCGA-DK-A1AB-01A-11D-A13W-08 TCGA-DK-A1AB-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f0fb2ba-0351-4ce0-8b74-31aa3deecae1 6bb1a3eb-1659-4df1-935d-f8b2d710ace4 g.chr2:235943740G>A uc002vvp.2 + 3 487 c.94G>A c.(94-96)GAG>AAG p.E32K SH3BP4_uc010fym.2_Missense_Mutation_p.E32K|SH3BP4_uc002vvq.2_Missense_Mutation_p.E32K NM_014521 NP_055336 Q9P0V3 SH3B4_HUMAN SH3-domain binding protein 4 32 endocytosis clathrin-coated vesicle|coated pit|nucleus protein binding skin(3)|ovary(1) 4 Breast(86;0.000332)|Renal(207;0.00339)|all_lung(227;0.00458)|all_hematologic(139;0.0296)|Lung NSC(271;0.0419) Epithelial(121;7.66e-20)|BRCA - Breast invasive adenocarcinoma(100;0.000402)|Lung(119;0.00299)|LUSC - Lung squamous cell carcinoma(224;0.00645)|GBM - Glioblastoma multiforme(43;0.237) AGGGTTTTCAGAGACGAGCTT 0.532 NaN 0 0 0 0.038147 0 8 36 COL6A3 1293 broad.mit.edu 37 2 238277324 238277324 + Missense_Mutation SNP G G C TCGA-DK-A1AB-01A-11D-A13W-08 TCGA-DK-A1AB-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f0fb2ba-0351-4ce0-8b74-31aa3deecae1 6bb1a3eb-1659-4df1-935d-f8b2d710ace4 g.chr2:238277324G>C uc002vwl.2 - 10 5067 c.4782C>G c.(4780-4782)TTC>TTG p.F1594L COL6A3_uc002vwo.2_Missense_Mutation_p.F1388L|COL6A3_uc010znj.1_Missense_Mutation_p.F987L NM_004369 NP_004360 P12111 CO6A3_HUMAN alpha 3 type VI collagen isoform 1 precursor 1594 VWFA 8.|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) CTCGCACTGTGAAGACCAGTC 0.547 NaN 0 0 0 0.059317 0 33 229 COL6A3 1293 broad.mit.edu 37 2 238283544 238283544 + Missense_Mutation SNP G G A TCGA-DK-A1AB-01A-11D-A13W-08 TCGA-DK-A1AB-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f0fb2ba-0351-4ce0-8b74-31aa3deecae1 6bb1a3eb-1659-4df1-935d-f8b2d710ace4 g.chr2:238283544G>A uc002vwl.2 - 8 3475 c.3190C>T c.(3190-3192)CGG>TGG p.R1064W COL6A3_uc002vwo.2_Missense_Mutation_p.R858W|COL6A3_uc010znj.1_Missense_Mutation_p.R457W|COL6A3_uc002vwq.2_Missense_Mutation_p.R858W|COL6A3_uc002vwr.2_Missense_Mutation_p.R657W NM_004369 NP_004360 P12111 CO6A3_HUMAN alpha 3 type VI collagen isoform 1 precursor 1064 Nonhelical region.|VWFA 6. R -> Q (in UCMD). axon guidance|cell adhesion|muscle organ development collagen type VI|extracellular space serine-type endopeptidase inhibitor activity 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) ACGCGGACCCGGTCCTGGCCC 0.592 NaN 0 0 0 0.105934 0 13 31 HNF4A 3172 broad.mit.edu 37 20 43030114 43030114 + Silent SNP G G A TCGA-DK-A1AB-01A-11D-A13W-08 TCGA-DK-A1AB-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f0fb2ba-0351-4ce0-8b74-31aa3deecae1 6bb1a3eb-1659-4df1-935d-f8b2d710ace4 g.chr20:43030114G>A uc002xma.2 + 1 191 c.102G>A c.(100-102)TTG>TTA p.L34L HNF4A_uc010zwo.1_Intron|HNF4A_uc002xlt.2_Intron|HNF4A_uc002xlu.2_Intron|HNF4A_uc002xlv.2_Intron|uc002xlw.1_Intron|HNF4A_uc002xly.2_Silent_p.L34L|HNF4A_uc002xlz.2_Silent_p.L34L|HNF4A_uc010ggq.2_5'UTR NM_000457 NP_000448 P41235 HNF4A_HUMAN hepatocyte nuclear factor 4 alpha isoform b 34 blood coagulation|endocrine pancreas development|glucose homeostasis|negative regulation of cell growth|negative regulation of cell proliferation|ornithine metabolic process|phospholipid homeostasis|positive regulation of cholesterol homeostasis|regulation of growth hormone receptor signaling pathway|regulation of insulin secretion|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to glucose stimulus|triglyceride homeostasis|xenobiotic metabolic process cytoplasm activating transcription factor binding|protein homodimerization activity|receptor binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding ovary(1)|lung(1)|skin(1) 3 Myeloproliferative disorder(115;0.0122) COAD - Colon adenocarcinoma(18;0.00189) TGCAGGTGTTGACGATGGGCA 0.587 NaN 0 0 0 0.021553 0 5 36 C20orf85 128602 broad.mit.edu 37 20 56728657 56728657 + Silent SNP G G A TCGA-DK-A1AB-01A-11D-A13W-08 TCGA-DK-A1AB-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f0fb2ba-0351-4ce0-8b74-31aa3deecae1 6bb1a3eb-1659-4df1-935d-f8b2d710ace4 g.chr20:56728657G>A uc002xyv.2 + 2 164 c.126G>A c.(124-126)GGG>GGA p.G42G NM_178456 NP_848551 Q9H1P6 CT085_HUMAN hypothetical protein LOC128602 42 ovary(1) 1 all_epithelial(3;5.99e-14)|Lung NSC(12;0.000152)|all_lung(29;0.000518)|Melanoma(10;0.118) BRCA - Breast invasive adenocarcinoma(13;5.53e-12)|Epithelial(14;7.42e-08)|all cancers(14;7.19e-07) AGAACTGGGGGTTTTTAACAA 0.428 NaN 0 0 0 0.083992 0 24 106 CDH4 1002 broad.mit.edu 37 20 60419818 60419818 + Missense_Mutation SNP C C G TCGA-DK-A1AB-01A-11D-A13W-08 TCGA-DK-A1AB-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f0fb2ba-0351-4ce0-8b74-31aa3deecae1 6bb1a3eb-1659-4df1-935d-f8b2d710ace4 g.chr20:60419818C>G uc002ybn.1 + 5 685 c.671C>G c.(670-672)TCC>TGC p.S224C CDH4_uc002ybp.1_Missense_Mutation_p.S150C NM_001794 NP_001785 P55283 CADH4_HUMAN cadherin 4, type 1 preproprotein 224 Cadherin 1.|Extracellular (Potential). adherens junction organization|cell junction assembly calcium ion binding lung(3)|ovary(2)|skin(1) 6 BRCA - Breast invasive adenocarcinoma(19;2.36e-08) AGCATTGACTCCATGTCCGGC 0.617 NaN 0 0 0 0.146539 0 15 34 NPBWR2 2832 broad.mit.edu 37 20 62737520 62737520 + Missense_Mutation SNP A A C TCGA-DK-A1AB-01A-11D-A13W-08 TCGA-DK-A1AB-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f0fb2ba-0351-4ce0-8b74-31aa3deecae1 6bb1a3eb-1659-4df1-935d-f8b2d710ace4 g.chr20:62737520A>C uc011abt.1 - 1 665 c.665T>G c.(664-666)GTG>GGG p.V222G NM_005286 NP_005277 P48146 NPBW2_HUMAN neuropeptides B/W receptor 2 222 Helical; Name=5; (Potential). plasma membrane opioid receptor activity|protein binding large_intestine(1) 1 all_cancers(38;2.58e-11)|all_epithelial(29;6.4e-13)|Lung NSC(23;1.25e-09)|all_lung(23;4.21e-09) CACGGGCAGCACGAAGCCCAG 0.657 NaN 0 0 0 0.069234 0 8 19 KRTAP24-1 643803 broad.mit.edu 37 21 31654758 31654758 + Missense_Mutation SNP G G C TCGA-DK-A1AB-01A-11D-A13W-08 TCGA-DK-A1AB-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f0fb2ba-0351-4ce0-8b74-31aa3deecae1 6bb1a3eb-1659-4df1-935d-f8b2d710ace4 g.chr21:31654758G>C uc002ynv.2 - 1 519 c.493C>G c.(493-495)CTA>GTA p.L165V NM_001085455 NP_001078924 Q3LI83 KR241_HUMAN keratin associated protein 24-1 165 keratin filament structural molecule activity 0 CAGTGGTTTAGAGTTTGGAAA 0.443 NaN 0 0 0 0.104719 0 40 121 DYRK1A 1859 broad.mit.edu 37 21 38862650 38862650 + Missense_Mutation SNP G G C TCGA-DK-A1AB-01A-11D-A13W-08 TCGA-DK-A1AB-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f0fb2ba-0351-4ce0-8b74-31aa3deecae1 6bb1a3eb-1659-4df1-935d-f8b2d710ace4 g.chr21:38862650G>C uc002ywk.2 + 6 913 c.838G>C c.(838-840)GAA>CAA p.E280Q DYRK1A_uc002ywi.2_Missense_Mutation_p.E280Q|DYRK1A_uc002ywj.2_Missense_Mutation_p.E271Q|DYRK1A_uc002ywl.2_Missense_Mutation_p.E280Q|DYRK1A_uc002ywm.2_Missense_Mutation_p.E280Q|DYRK1A_uc011aei.1_Missense_Mutation_p.E41Q NM_001396 NP_001387 Q13627 DYR1A_HUMAN dual-specificity tyrosine-(Y)-phosphorylation 280 Protein kinase. nervous system development|peptidyl-tyrosine phosphorylation|protein autophosphorylation nuclear speck ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding|protein self-association|protein serine/threonine kinase activity ovary(2)|lung(1)|breast(1) 4 TGCGACTCCAGAACTTAGTAT 0.428 NaN 0 0 0 0.014758 0 5 124 CAND2 23066 broad.mit.edu 37 3 12858016 12858016 + Missense_Mutation SNP T T A TCGA-DK-A1AB-01A-11D-A13W-08 TCGA-DK-A1AB-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f0fb2ba-0351-4ce0-8b74-31aa3deecae1 6bb1a3eb-1659-4df1-935d-f8b2d710ace4 g.chr3:12858016T>A uc003bxk.2 + 10 1634 c.1585T>A c.(1585-1587)TGT>AGT p.C529S CAND2_uc003bxj.2_Missense_Mutation_p.C436S NM_001162499 NP_001155971 O75155 CAND2_HUMAN TBP-interacting protein isoform 1 529 HEAT 11. positive regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding skin(3)|pancreas(1) 4 TGTGATGGCCTGTGTGGCTGA 0.647 NaN 0 0 0 0.115264 0 3 37 TBC1D5 9779 broad.mit.edu 37 3 17349598 17349598 + Missense_Mutation SNP C C T TCGA-DK-A1AB-01A-11D-A13W-08 TCGA-DK-A1AB-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f0fb2ba-0351-4ce0-8b74-31aa3deecae1 6bb1a3eb-1659-4df1-935d-f8b2d710ace4 g.chr3:17349598C>T uc003cbf.2 - 14 2689 c.1024G>A c.(1024-1026)GAG>AAG p.E342K TBC1D5_uc010heu.2_5'UTR|TBC1D5_uc010hev.2_Missense_Mutation_p.E342K|TBC1D5_uc003cbe.2_Missense_Mutation_p.E342K|TBC1D5_uc010hew.1_Missense_Mutation_p.E294K NM_014744 NP_055559 Q92609 TBCD5_HUMAN TBC1 domain family, member 5 isoform b 342 Rab-GAP TBC. intracellular protein binding|Rab GTPase activator activity ovary(1) 1 AGGGGGAACTCTCGTCCAAAT 0.438 NaN 0 0 0 0.11911 0 11 14 CCDC12 151903 broad.mit.edu 37 3 46963564 46963564 + Missense_Mutation SNP T T G TCGA-DK-A1AB-01A-11D-A13W-08 TCGA-DK-A1AB-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f0fb2ba-0351-4ce0-8b74-31aa3deecae1 6bb1a3eb-1659-4df1-935d-f8b2d710ace4 g.chr3:46963564T>G uc003cqo.2 - 7 532 c.523A>C c.(523-525)ACC>CCC p.T175P NM_144716 NP_653317 Q8WUD4 CCD12_HUMAN coiled-coil domain containing 12 162 0 Prostate(884;0.0143)|Ovarian(412;0.0448)|Acute lymphoblastic leukemia(5;0.143) OV - Ovarian serous cystadenocarcinoma(275;2.2e-56)|BRCA - Breast invasive adenocarcinoma(193;0.00136)|KIRC - Kidney renal clear cell carcinoma(197;0.00703)|Kidney(197;0.00809) GAGTCACAGGTCTTTTGTTCG 0.617 NaN 0 0 0 0.014758 0 4 14 SETD2 29072 broad.mit.edu 37 3 47142947 47142947 + Splice_Site SNP C C T TCGA-DK-A1AB-01A-11D-A13W-08 TCGA-DK-A1AB-10A-01D-A13W-08 C T C C Valid Somatic Phase_I WXS Fluidigm Illumina GAIIx 5f0fb2ba-0351-4ce0-8b74-31aa3deecae1 6bb1a3eb-1659-4df1-935d-f8b2d710ace4 g.chr3:47142947C>T uc003cqs.2 - 8 5068 c.5015_splice c.e8+1 p.G1672_splice SETD2_uc003cqv.2_Splice_Site_p.G1739_splice NM_014159 NP_054878 Q9BYW2 SETD2_HUMAN SET domain containing 2 regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nucleus DNA binding|histone-lysine N-methyltransferase activity|oxidoreductase activity|transition metal ion binding kidney(24)|ovary(5)|skin(1)|central_nervous_system(1)|breast(1) 32 Acute lymphoblastic leukemia(5;0.0169) BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844) ACAATACTTACCCATATCTCT 0.358 NaN N|F|S|Mis clear cell renal carcinoma 0 0 0 0.09836 0 39 89 PTPRG 5793 broad.mit.edu 37 3 62261595 62261595 + Silent SNP G G A TCGA-DK-A1AB-01A-11D-A13W-08 TCGA-DK-A1AB-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f0fb2ba-0351-4ce0-8b74-31aa3deecae1 6bb1a3eb-1659-4df1-935d-f8b2d710ace4 g.chr3:62261595G>A uc003dlb.2 + 24 4232 c.3513G>A c.(3511-3513)CAG>CAA p.Q1171Q PTPRG_uc003dlc.2_Silent_p.Q1142Q|PTPRG_uc011bfi.1_Silent_p.Q417Q|uc010hno.2_Intron|uc003dld.3_Intron|uc010hnp.2_Intron|uc003dle.3_Intron NM_002841 NP_002832 P23470 PTPRG_HUMAN protein tyrosine phosphatase, receptor type, G 1171 Cytoplasmic (Potential).|Tyrosine-protein phosphatase 2. transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane identical protein binding|transmembrane receptor protein tyrosine phosphatase activity ovary(5)|lung(2) 7 BRCA - Breast invasive adenocarcinoma(55;0.000376)|KIRC - Kidney renal clear cell carcinoma(10;0.0499)|Kidney(10;0.065) TCAGTGCTCAGAAAGAGTGTA 0.318 NaN 0 0 0 0.069288 0 20 27 PPP4R2 151987 broad.mit.edu 37 3 73114035 73114035 + Nonsense_Mutation SNP C C G TCGA-DK-A1AB-01A-11D-A13W-08 TCGA-DK-A1AB-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f0fb2ba-0351-4ce0-8b74-31aa3deecae1 6bb1a3eb-1659-4df1-935d-f8b2d710ace4 g.chr3:73114035C>G uc003dph.1 + 8 741 c.671C>G c.(670-672)TCA>TGA p.S224* PPP4R2_uc003dpi.1_Nonsense_Mutation_p.S167* NM_174907 NP_777567 Q9NY27 PP4R2_HUMAN protein phosphatase 4, regulatory subunit 2 224 mRNA processing|protein modification process|regulation of double-strand break repair via homologous recombination|RNA splicing centrosome|nucleus|protein phosphatase 4 complex protein binding, bridging|protein phosphatase type 4 regulator activity lung(1) 1 Prostate(10;0.0187)|Lung SC(41;0.236) Epithelial(33;1.76e-07)|BRCA - Breast invasive adenocarcinoma(55;9.42e-05)|LUSC - Lung squamous cell carcinoma(21;0.00211)|Lung(16;0.00643)|KIRC - Kidney renal clear cell carcinoma(39;0.0164)|Kidney(39;0.0193)|OV - Ovarian serous cystadenocarcinoma(275;0.031) GAAGTTTCCTCAGTGAGCCCT 0.378 NaN 0 0 0 0.083992 0 25 58 PPP4R2 151987 broad.mit.edu 37 3 73114241 73114241 + Silent SNP C C A TCGA-DK-A1AB-01A-11D-A13W-08 TCGA-DK-A1AB-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f0fb2ba-0351-4ce0-8b74-31aa3deecae1 6bb1a3eb-1659-4df1-935d-f8b2d710ace4 g.chr3:73114241C>A uc003dph.1 + 8 947 c.877C>A c.(877-879)CGG>AGG p.R293R PPP4R2_uc003dpi.1_Silent_p.R236R NM_174907 NP_777567 Q9NY27 PP4R2_HUMAN protein phosphatase 4, regulatory subunit 2 293 mRNA processing|protein modification process|regulation of double-strand break repair via homologous recombination|RNA splicing centrosome|nucleus|protein phosphatase 4 complex protein binding, bridging|protein phosphatase type 4 regulator activity lung(1) 1 Prostate(10;0.0187)|Lung SC(41;0.236) Epithelial(33;1.76e-07)|BRCA - Breast invasive adenocarcinoma(55;9.42e-05)|LUSC - Lung squamous cell carcinoma(21;0.00211)|Lung(16;0.00643)|KIRC - Kidney renal clear cell carcinoma(39;0.0164)|Kidney(39;0.0193)|OV - Ovarian serous cystadenocarcinoma(275;0.031) CCGTTGTACCCGGCAGCACTG 0.348 NaN 1 0 0.004672 0.115264 0.005088 3 34 C3orf52 79669 broad.mit.edu 37 3 111821711 111821711 + Missense_Mutation SNP G G C rs139531193 by1000genomes TCGA-DK-A1AB-01A-11D-A13W-08 TCGA-DK-A1AB-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f0fb2ba-0351-4ce0-8b74-31aa3deecae1 6bb1a3eb-1659-4df1-935d-f8b2d710ace4 g.chr3:111821711G>C uc003dyq.3 + 3 368 c.295G>C c.(295-297)GAA>CAA p.E99Q C3orf52_uc011bhs.1_Missense_Mutation_p.E99Q|C3orf52_uc011bht.1_Missense_Mutation_p.E99Q NM_024616 NP_078892 Q5BVD1 TTMP_HUMAN TPA-induced transmembrane protein 99 endoplasmic reticulum membrane|integral to membrane 0 AGATGAAAATGAAATACTTGA 0.343 NaN 0 0 0 0.115264 0 2 5 SLC9A10 285335 broad.mit.edu 37 3 111996650 111996650 + Missense_Mutation SNP G G C TCGA-DK-A1AB-01A-11D-A13W-08 TCGA-DK-A1AB-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f0fb2ba-0351-4ce0-8b74-31aa3deecae1 6bb1a3eb-1659-4df1-935d-f8b2d710ace4 g.chr3:111996650G>C uc003dyu.2 - 5 598 c.376C>G c.(376-378)CTG>GTG p.L126V SLC9A10_uc011bhu.1_Translation_Start_Site|SLC9A10_uc010hqc.2_Missense_Mutation_p.L126V NM_183061 NP_898884 Q4G0N8 S9A10_HUMAN sperm-specific sodium proton exchanger 126 cell differentiation|multicellular organismal development|sodium ion transport|spermatogenesis cilium|flagellar membrane|integral to membrane solute:hydrogen antiporter activity ovary(3)|breast(2) 5 ACAGATGCCAGATGCCAAAGA 0.343 NaN 0 0 0 0.125774 0 29 95 HEG1 57493 broad.mit.edu 37 3 124746337 124746337 + Missense_Mutation SNP G G A TCGA-DK-A1AB-01A-11D-A13W-08 TCGA-DK-A1AB-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f0fb2ba-0351-4ce0-8b74-31aa3deecae1 6bb1a3eb-1659-4df1-935d-f8b2d710ace4 g.chr3:124746337G>A uc003ehs.3 - 3 693 c.625C>T c.(625-627)CAC>TAC p.H209Y HEG1_uc011bke.1_Missense_Mutation_p.H209Y NM_020733 NP_065784 Q9ULI3 HEG1_HUMAN HEG homolog 1 precursor 209 Extracellular (Potential). extracellular region|integral to membrane calcium ion binding ovary(2) 2 GATGGCAGGTGAAGACTTTCT 0.453 NaN 0 0 0 0.021553 0 6 27 TPRA1 131601 broad.mit.edu 37 3 127295478 127295478 + Silent SNP C C T TCGA-DK-A1AB-01A-11D-A13W-08 TCGA-DK-A1AB-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f0fb2ba-0351-4ce0-8b74-31aa3deecae1 6bb1a3eb-1659-4df1-935d-f8b2d710ace4 g.chr3:127295478C>T uc003ejl.2 - 5 771 c.480G>A c.(478-480)CTG>CTA p.L160L TPRA1_uc003ejm.2_RNA|TPRA1_uc003ejo.2_Silent_p.L160L|TPRA1_uc010hsk.2_Silent_p.L160L|TPRA1_uc003ejn.2_Silent_p.L160L NM_016372 NP_057456 Q86W33 TPRA1_HUMAN G protein-coupled receptor 175 isoform 1 160 Helical; Name=4; (Potential). aging|lipid metabolic process integral to membrane G-protein coupled receptor activity 0 CAGAGTAGGCCAGGGACAGCA 0.617 NaN 0 0 0 0.115264 0 3 14 EPHB1 2047 broad.mit.edu 37 3 134920360 134920360 + Silent SNP C C G TCGA-DK-A1AB-01A-11D-A13W-08 TCGA-DK-A1AB-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f0fb2ba-0351-4ce0-8b74-31aa3deecae1 6bb1a3eb-1659-4df1-935d-f8b2d710ace4 g.chr3:134920360C>G uc003eqt.2 + 12 2395 c.2175C>G c.(2173-2175)CTC>CTG p.L725L EPHB1_uc003equ.2_Silent_p.L286L NM_004441 NP_004432 P54762 EPHB1_HUMAN ephrin receptor EphB1 precursor 725 Cytoplasmic (Potential).|Protein kinase. integral to plasma membrane ATP binding|ephrin receptor activity|protein binding lung(11)|ovary(6)|stomach(4)|breast(3)|central_nervous_system(2)|skin(2)|large_intestine(1)|pancreas(1) 30 TGGGTATGCTCAGGGGCATCG 0.507 NaN 0 0 0 0.139131 0 54 139 PCCB 5096 broad.mit.edu 37 3 136045670 136045670 + Silent SNP G G C TCGA-DK-A1AB-01A-11D-A13W-08 TCGA-DK-A1AB-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f0fb2ba-0351-4ce0-8b74-31aa3deecae1 6bb1a3eb-1659-4df1-935d-f8b2d710ace4 g.chr3:136045670G>C uc003eqy.1 + 11 1167 c.1116G>C c.(1114-1116)GTG>GTC p.V372V PCCB_uc003eqz.1_Silent_p.V372V|PCCB_uc011bmc.1_Silent_p.V392V|PCCB_uc011bmd.1_Silent_p.V289V NM_000532 NP_000523 P05166 PCCB_HUMAN propionyl Coenzyme A carboxylase, beta 372 Carboxyltransferase. fatty acid beta-oxidation mitochondrial matrix ATP binding|propionyl-CoA carboxylase activity 0 Biotin(DB00121)|L-Valine(DB00161) ATTCATCTGTGAAAGGGGCTC 0.408 NaN 0 0 0 0.117977 0 44 208 CP 1356 broad.mit.edu 37 3 148897410 148897410 + Missense_Mutation SNP G G A TCGA-DK-A1AB-01A-11D-A13W-08 TCGA-DK-A1AB-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f0fb2ba-0351-4ce0-8b74-31aa3deecae1 6bb1a3eb-1659-4df1-935d-f8b2d710ace4 g.chr3:148897410G>A uc003ewy.3 - 15 2847 c.2594C>T c.(2593-2595)TCT>TTT p.S865F CP_uc011bnr.1_RNA|CP_uc003eww.3_Missense_Mutation_p.S17F|CP_uc003ewx.3_Missense_Mutation_p.S646F|CP_uc003ewz.2_Missense_Mutation_p.S865F NM_000096 NP_000087 P00450 CERU_HUMAN ceruloplasmin precursor 865 Plastocyanin-like 5.|F5/8 type A 3. cellular iron ion homeostasis|copper ion transport|transmembrane transport extracellular space chaperone binding|ferroxidase activity ovary(1) 1 Prostate(884;0.00217)|Hepatocellular(537;0.00826)|Myeloproliferative disorder(1037;0.0122)|all_neural(597;0.0189)|Melanoma(1037;0.152) LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607) Drotrecogin alfa(DB00055) TCCAGCTCCAGATCTTTCTGG 0.333 NaN 0 0 0 0.09319 0 11 68 PLCH1 23007 broad.mit.edu 37 3 155232664 155232664 + Missense_Mutation SNP T T A TCGA-DK-A1AB-01A-11D-A13W-08 TCGA-DK-A1AB-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f0fb2ba-0351-4ce0-8b74-31aa3deecae1 6bb1a3eb-1659-4df1-935d-f8b2d710ace4 g.chr3:155232664T>A uc011bok.1 - 11 1721 c.1444A>T c.(1444-1446)ACC>TCC p.T482S PLCH1_uc011boj.1_Missense_Mutation_p.T482S|PLCH1_uc011bol.1_Missense_Mutation_p.T464S NM_001130960 NP_001124432 Q4KWH8 PLCH1_HUMAN phospholipase C eta 1 isoform a 482 lipid catabolic process|phosphatidylinositol-mediated signaling membrane calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity skin(3)|ovary(1) 4 Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114) TGCTCAGTGGTCCCATTACTC 0.348 NaN 0 0 0 0.038395 0 18 55 TRIM59 286827 broad.mit.edu 37 3 160156757 160156757 + Missense_Mutation SNP G G C TCGA-DK-A1AB-01A-11D-A13W-08 TCGA-DK-A1AB-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f0fb2ba-0351-4ce0-8b74-31aa3deecae1 6bb1a3eb-1659-4df1-935d-f8b2d710ace4 g.chr3:160156757G>C uc003fdm.2 - 3 410 c.215C>G c.(214-216)TCT>TGT p.S72C IFT80_uc003fda.2_RNA NM_173084 NP_775107 Q8IWR1 TRI59_HUMAN tripartite motif-containing 59 72 integral to membrane|intracellular zinc ion binding 0 Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523) AACAGGTAAAGATTCAATGCC 0.393 NaN 0 0 0 0.086207 0 41 123 PIK3CA 5290 broad.mit.edu 37 3 178952074 178952074 + Missense_Mutation SNP G G T rs121913283 TCGA-DK-A1AB-01A-11D-A13W-08 TCGA-DK-A1AB-10A-01D-A13W-08 G T G G Valid Somatic Phase_I WXS Fluidigm;RNASeq Illumina GAIIx 5f0fb2ba-0351-4ce0-8b74-31aa3deecae1 6bb1a3eb-1659-4df1-935d-f8b2d710ace4 g.chr3:178952074G>T uc003fjk.2 + 21 3286 c.3129G>T c.(3127-3129)ATG>ATT p.M1043I NM_006218 NP_006209 P42336 PK3CA_HUMAN phosphoinositide-3-kinase, catalytic, alpha 1043 PI3K/PI4K. M -> I (in cancer; shows an increase in lipid kinase activity). epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity p.M1043I(33)|p.M1043V(14)|p.M1043T(3) 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) TGAAACAAATGAATGATGCAC 0.368 57 Mis colorectal|gastric|gliobastoma|breast HNSCC(19;0.045)|TSP Lung(28;0.18) 1 0 2.4375e-19 0.125774 2.7683e-19 28 55 USP13 8975 broad.mit.edu 37 3 179399668 179399668 + Missense_Mutation SNP T T A TCGA-DK-A1AB-01A-11D-A13W-08 TCGA-DK-A1AB-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f0fb2ba-0351-4ce0-8b74-31aa3deecae1 6bb1a3eb-1659-4df1-935d-f8b2d710ace4 g.chr3:179399668T>A uc003fkh.2 + 2 252 c.171T>A c.(169-171)AAT>AAA p.N57K USP13_uc003fkf.2_Missense_Mutation_p.N57K NM_003940 NP_003931 Q92995 UBP13_HUMAN ubiquitin thiolesterase 13 57 ubiquitin-dependent protein catabolic process cysteine-type endopeptidase activity|omega peptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding 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) TCTTCTAGAATTCTGAAGGTG 0.423 NaN 0 0 0 0.139131 0 73 205 IQCG 84223 broad.mit.edu 37 3 197616472 197616472 + Missense_Mutation SNP C C G TCGA-DK-A1AB-01A-11D-A13W-08 TCGA-DK-A1AB-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f0fb2ba-0351-4ce0-8b74-31aa3deecae1 6bb1a3eb-1659-4df1-935d-f8b2d710ace4 g.chr3:197616472C>G uc003fyo.2 - 11 1457 c.1311G>C c.(1309-1311)AAG>AAC p.K437N IQCG_uc003fyn.2_Missense_Mutation_p.K339N|IQCG_uc003fyp.2_Missense_Mutation_p.K437N|IQCG_uc003fym.2_Missense_Mutation_p.K138N NM_001134435 NP_001127907 Q9H095 IQCG_HUMAN IQ motif containing G 437 0 all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976) Epithelial(36;7.19e-24)|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;0.149) TGCCTCTCCTCTTATCCTTGC 0.443 NaN 0 0 0 0.014758 0 4 184 JAKMIP1 152789 broad.mit.edu 37 4 6087327 6087327 + Silent SNP C C G TCGA-DK-A1AB-01A-11D-A13W-08 TCGA-DK-A1AB-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f0fb2ba-0351-4ce0-8b74-31aa3deecae1 6bb1a3eb-1659-4df1-935d-f8b2d710ace4 g.chr4:6087327C>G uc003giu.3 - 4 930 c.654G>C c.(652-654)GTG>GTC p.V218V JAKMIP1_uc010idb.1_Silent_p.V218V|JAKMIP1_uc010idc.1_Silent_p.V53V|JAKMIP1_uc010idd.1_Silent_p.V218V|JAKMIP1_uc011bwc.1_Silent_p.V53V|JAKMIP1_uc003giv.3_Silent_p.V218V|JAKMIP1_uc010ide.2_Silent_p.V218V NM_144720 NP_653321 Q96N16 JKIP1_HUMAN janus kinase and microtubule interacting protein 218 Potential.|Mediates association with microtubules. 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 AGGCCAGAATCACACGGTCTT 0.522 NaN 0 0 0 0.059317 0 35 117 WDR1 9948 broad.mit.edu 37 4 10083020 10083020 + Silent SNP G G A TCGA-DK-A1AB-01A-11D-A13W-08 TCGA-DK-A1AB-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f0fb2ba-0351-4ce0-8b74-31aa3deecae1 6bb1a3eb-1659-4df1-935d-f8b2d710ace4 g.chr4:10083020G>A uc003gmf.2 - 11 1528 c.1245C>T c.(1243-1245)GTC>GTT p.V415V WDR1_uc003gmg.2_Silent_p.V275V|WDR1_uc010idm.2_RNA|hsa-mir-3138|MI0014161_5'Flank NM_017491 NP_059830 O75083 WDR1_HUMAN WD repeat-containing protein 1 isoform 1 415 platelet activation|platelet degranulation|sensory perception of sound cytoskeleton|cytosol|extracellular region actin binding ovary(2)|pancreas(1) 3 STAD - Stomach adenocarcinoma(129;0.000703)|Colorectal(103;0.0057)|LUSC - Lung squamous cell carcinoma(721;0.0232) CCCCGGGGCCGACGGCTACGC 0.567 NaN 0 0 0 0.132662 0 14 31 ATP10D 57205 broad.mit.edu 37 4 47593107 47593107 + Silent SNP G G C TCGA-DK-A1AB-01A-11D-A13W-08 TCGA-DK-A1AB-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f0fb2ba-0351-4ce0-8b74-31aa3deecae1 6bb1a3eb-1659-4df1-935d-f8b2d710ace4 g.chr4:47593107G>C uc003gxk.1 + 23 4154 c.3990G>C c.(3988-3990)CTG>CTC p.L1330L ATP10D_uc003gxl.1_Silent_p.L578L NM_020453 NP_065186 Q9P241 AT10D_HUMAN ATPase, class V, type 10D 1330 Cytoplasmic (Potential). ATP biosynthetic process|cation transport integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity ovary(2)|pancreas(1) 3 CTCCAATTCTGAGAGCTAAGC 0.413 NaN 0 0 0 0.134883 0 30 92 GNRHR 2798 broad.mit.edu 37 4 68619664 68619664 + Silent SNP G G A TCGA-DK-A1AB-01A-11D-A13W-08 TCGA-DK-A1AB-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f0fb2ba-0351-4ce0-8b74-31aa3deecae1 6bb1a3eb-1659-4df1-935d-f8b2d710ace4 g.chr4:68619664G>A uc003hdn.2 - 1 2141 c.390C>T c.(388-390)TTC>TTT p.F130F LOC550112_uc003hdl.3_Intron|GNRHR_uc003hdm.2_Silent_p.F130F NM_000406 NP_000397 P30968 GNRHR_HUMAN gonadotropin-releasing hormone receptor isoform 130 Helical; Name=3; (Potential). multicellular organismal development integral to plasma membrane gonadotropin-releasing hormone receptor activity ovary(1) 1 Abarelix(DB00106)|Cetrorelix(DB00050)|Danazol(DB01406)|Gonadorelin(DB00644)|Leuprolide(DB00007)|Nafarelin(DB00666) CCACCATCATGAAGGCTGGGG 0.507 NaN 0 0 0 0.105934 0 12 42 MANBA 4126 broad.mit.edu 37 4 103595103 103595103 + Missense_Mutation SNP G G A TCGA-DK-A1AB-01A-11D-A13W-08 TCGA-DK-A1AB-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f0fb2ba-0351-4ce0-8b74-31aa3deecae1 6bb1a3eb-1659-4df1-935d-f8b2d710ace4 g.chr4:103595103G>A uc003hwg.2 - 8 1185 c.1085C>T c.(1084-1086)TCA>TTA p.S362L MANBA_uc011ces.1_Missense_Mutation_p.S305L NM_005908 NP_005899 O00462 MANBA_HUMAN mannosidase, beta A, lysosomal precursor 362 carbohydrate metabolic process|protein modification process lysosome beta-mannosidase activity|cation binding ovary(1) 1 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;4.44e-08) GTCCTGGAATGAATCTGCTGG 0.368 NaN 0 0 0 0.074837 0 36 104 LEF1 51176 broad.mit.edu 37 4 109004529 109004529 + Silent SNP G G A TCGA-DK-A1AB-01A-11D-A13W-08 TCGA-DK-A1AB-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f0fb2ba-0351-4ce0-8b74-31aa3deecae1 6bb1a3eb-1659-4df1-935d-f8b2d710ace4 g.chr4:109004529G>A uc003hyt.1 - 5 1276 c.621C>T c.(619-621)ATC>ATT p.I207I LEF1_uc011cfj.1_Silent_p.I92I|LEF1_uc011cfk.1_Silent_p.I139I|LEF1_uc003hyu.1_Silent_p.I207I|LEF1_uc003hyv.1_Silent_p.I207I|LEF1_uc010imb.1_RNA NM_016269 NP_057353 Q9UJU2 LEF1_HUMAN lymphoid enhancer-binding factor 1 isoform 1 207 Pro-rich. canonical Wnt receptor signaling pathway|cell chemotaxis|cellular response to interleukin-4|epithelial to mesenchymal transition|histone H3 acetylation|histone H4 acetylation|negative regulation of apoptosis in bone marrow|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell-cell adhesion|negative regulation of DNA binding|negative regulation of estrogen receptor binding|negative regulation of interleukin-13 production|negative regulation of interleukin-4 production|negative regulation of interleukin-5 production|negative regulation of transcription, DNA-dependent|neutrophil differentiation|osteoblast differentiation|palate development|positive regulation by host of viral transcription|positive regulation of cell cycle process|positive regulation of cell growth|positive regulation of cell migration|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of cell proliferation in bone marrow|positive regulation of cell-cell adhesion|positive regulation of epithelial to mesenchymal transition|positive regulation of granulocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|T-helper 1 cell differentiation cytoplasm|protein-DNA complex|transcription factor complex armadillo repeat domain binding|beta-catenin binding|C2H2 zinc finger domain binding|caspase inhibitor activity|DNA bending activity|enhancer binding|estrogen receptor activity|estrogen receptor binding|gamma-catenin binding|histone binding|sequence-specific DNA binding|transcription regulatory region DNA binding large_intestine(1) 1 OV - Ovarian serous cystadenocarcinoma(123;0.000224) GAGGTGGGGTGATCTGTCCAA 0.463 NaN 0 0 0 0.043863 0 18 39 NAA15 80155 broad.mit.edu 37 4 140309202 140309202 + Missense_Mutation SNP T T A TCGA-DK-A1AB-01A-11D-A13W-08 TCGA-DK-A1AB-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f0fb2ba-0351-4ce0-8b74-31aa3deecae1 6bb1a3eb-1659-4df1-935d-f8b2d710ace4 g.chr4:140309202T>A uc003ihu.1 + 20 2821 c.2565T>A c.(2563-2565)AGT>AGA p.S855R NM_057175 NP_476516 Q9BXJ9 NAA15_HUMAN NMDA receptor regulated 1 855 angiogenesis|cell differentiation|N-terminal protein amino acid acetylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|transcription factor complex protein binding ovary(1)|skin(1) 2 ATGGAGATAGTTCTGCAGAAG 0.353 NaN 0 0 0 0.064281 0 36 85 CLGN 1047 broad.mit.edu 37 4 141320087 141320087 + Missense_Mutation SNP C C G TCGA-DK-A1AB-01A-11D-A13W-08 TCGA-DK-A1AB-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f0fb2ba-0351-4ce0-8b74-31aa3deecae1 6bb1a3eb-1659-4df1-935d-f8b2d710ace4 g.chr4:141320087C>G uc011chi.1 - 9 1020 c.802G>C c.(802-804)GAA>CAA p.E268Q CLGN_uc003iii.2_Missense_Mutation_p.E268Q NM_001130675 NP_001124147 O14967 CLGN_HUMAN calmegin precursor 268 Lumenal (Potential).|1-1. protein folding endoplasmic reticulum membrane|integral to membrane calcium ion binding|unfolded protein binding ovary(2)|skin(1) 3 all_hematologic(180;0.162) TTGGGATCTTCAATTTCTTTG 0.408 NaN 0 0 0 0.047766 0 9 215 SMARCA5 8467 broad.mit.edu 37 4 144469207 144469207 + Missense_Mutation SNP G G C TCGA-DK-A1AB-01A-11D-A13W-08 TCGA-DK-A1AB-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f0fb2ba-0351-4ce0-8b74-31aa3deecae1 6bb1a3eb-1659-4df1-935d-f8b2d710ace4 g.chr4:144469207G>C uc003ijg.2 + 22 3361 c.2899G>C c.(2899-2901)GAA>CAA p.E967Q NM_003601 NP_003592 O60264 SMCA5_HUMAN SWI/SNF-related matrix-associated 967 SANT 2. CenH3-containing nucleosome assembly at centromere|nucleosome positioning|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent condensed chromosome|nucleolus|nucleoplasm|NURF complex|RSF complex ATP binding|ATPase activity|DNA binding|helicase activity|nucleosome binding|protein binding skin(1) 1 all_hematologic(180;0.158) ATTTGACAAAGAAAATGTTTA 0.373 NaN 0 0 0 0.099896 0 27 69 ARFIP1 27236 broad.mit.edu 37 4 153791962 153791962 + Missense_Mutation SNP G G A rs142219628 TCGA-DK-A1AB-01A-11D-A13W-08 TCGA-DK-A1AB-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f0fb2ba-0351-4ce0-8b74-31aa3deecae1 6bb1a3eb-1659-4df1-935d-f8b2d710ace4 g.chr4:153791962G>A uc003imz.2 + 4 536 c.260G>A c.(259-261)CGA>CAA p.R87Q ARFIP1_uc003inb.2_Intron|ARFIP1_uc003ina.2_Intron|ARFIP1_uc003inc.2_Missense_Mutation_p.R87Q|ARFIP1_uc011cij.1_Intron NM_001025595 NP_001020766 P53367 ARFP1_HUMAN ADP-ribosylation factor interacting protein 1 87 intracellular protein transport|regulation of protein secretion cytosol|Golgi membrane ovary(1) 1 all_hematologic(180;0.093) GCAGCTAGTCGACTGGCTCAG 0.443 NaN 0 0 0 0.049695 0 19 66 ADCY2 108 broad.mit.edu 37 5 7817056 7817056 + Silent SNP C C T TCGA-DK-A1AB-01A-11D-A13W-08 TCGA-DK-A1AB-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f0fb2ba-0351-4ce0-8b74-31aa3deecae1 6bb1a3eb-1659-4df1-935d-f8b2d710ace4 g.chr5:7817056C>T uc003jdz.1 + 23 3028 c.2961C>T c.(2959-2961)ATC>ATT p.I987I ADCY2_uc011cmo.1_Silent_p.I807I|ADCY2_uc010itm.1_Silent_p.I183I NM_020546 NP_065433 Q08462 ADCY2_HUMAN adenylate cyclase 2 987 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 cytoplasm|dendrite|integral to membrane|plasma membrane ATP binding|metal ion binding ovary(5)|pancreas(1)|skin(1) 7 TGGATGCCATCAACAAGCACT 0.502 NaN OREG0016499 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 0 0 0 0.132662 0 15 52 MARCH6 10299 broad.mit.edu 37 5 10391798 10391798 + Missense_Mutation SNP G G A TCGA-DK-A1AB-01A-11D-A13W-08 TCGA-DK-A1AB-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f0fb2ba-0351-4ce0-8b74-31aa3deecae1 6bb1a3eb-1659-4df1-935d-f8b2d710ace4 g.chr5:10391798G>A uc003jet.1 + 7 904 c.721G>A c.(721-723)GAC>AAC p.D241N MARCH6_uc011cmu.1_Missense_Mutation_p.D193N|MARCH6_uc003jeu.1_5'UTR|MARCH6_uc011cmv.1_Missense_Mutation_p.D136N NM_005885 NP_005876 O60337 MARH6_HUMAN membrane-associated ring finger (C3HC4) 6 241 Cytoplasmic (Potential). protein K48-linked ubiquitination integral to endoplasmic reticulum membrane ubiquitin conjugating enzyme binding|ubiquitin-protein ligase activity|zinc ion binding ovary(1)|breast(1) 2 ggaggaagatgaCGCTGGTGT 0.423 NaN 0 0 0 0.021553 0 6 18 C5orf42 65250 broad.mit.edu 37 5 37185055 37185055 + Missense_Mutation SNP T T A TCGA-DK-A1AB-01A-11D-A13W-08 TCGA-DK-A1AB-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f0fb2ba-0351-4ce0-8b74-31aa3deecae1 6bb1a3eb-1659-4df1-935d-f8b2d710ace4 g.chr5:37185055T>A uc011cpa.1 - 25 4547 c.4316A>T c.(4315-4317)GAA>GTA p.E1439V C5orf42_uc011coy.1_5'Flank|C5orf42_uc003jks.2_RNA|C5orf42_uc011coz.1_Missense_Mutation_p.E514V|C5orf42_uc011cpb.1_Missense_Mutation_p.E320V NM_023073 NP_075561 E9PH94 E9PH94_HUMAN hypothetical protein LOC65250 1439 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) TGGTTTCTCTTCTTCAATTGG 0.428 NaN 0 0 0 0.117977 0 43 101 PAIP1 10605 broad.mit.edu 37 5 43533846 43533846 + Missense_Mutation SNP C C T TCGA-DK-A1AB-01A-11D-A13W-08 TCGA-DK-A1AB-10A-01D-A13W-08 C T C C Valid Somatic Phase_I WXS Fluidigm;RNASeq Illumina GAIIx 5f0fb2ba-0351-4ce0-8b74-31aa3deecae1 6bb1a3eb-1659-4df1-935d-f8b2d710ace4 g.chr5:43533846C>T uc003job.2 - 9 1493 c.1246G>A c.(1246-1248)GAT>AAT p.D416N PAIP1_uc003joa.2_Missense_Mutation_p.D337N|PAIP1_uc010ivp.2_Missense_Mutation_p.D337N|PAIP1_uc010ivo.2_RNA|PAIP1_uc003joc.2_Missense_Mutation_p.D304N NM_006451 NP_006442 Q9H074 PAIP1_HUMAN poly(A) binding protein interacting protein 1 416 mRNA stabilization|nuclear-transcribed mRNA poly(A) tail shortening|translational initiation cytosol protein binding|RNA binding|translation activator activity ovary(1) 1 Lung NSC(6;2.07e-05) ATACCTGGATCAGCTGCAGTG 0.358 NaN 0 0 0 0.134883 0 30 130 ZFYVE16 9765 broad.mit.edu 37 5 79732916 79732916 + Missense_Mutation SNP C C T TCGA-DK-A1AB-01A-11D-A13W-08 TCGA-DK-A1AB-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f0fb2ba-0351-4ce0-8b74-31aa3deecae1 6bb1a3eb-1659-4df1-935d-f8b2d710ace4 g.chr5:79732916C>T uc003kgr.3 + 4 714 c.412C>T c.(412-414)CAT>TAT p.H138Y ZFYVE16_uc010jak.1_Missense_Mutation_p.H138Y|ZFYVE16_uc003kgp.2_Missense_Mutation_p.H138Y|ZFYVE16_uc003kgq.3_Missense_Mutation_p.H138Y|ZFYVE16_uc003kgs.3_Missense_Mutation_p.H138Y NM_001105251 NP_001098721 Q7Z3T8 ZFY16_HUMAN zinc finger, FYVE domain containing 16 138 BMP signaling pathway|endosome transport|protein targeting to lysosome|regulation of endocytosis|vesicle organization early endosome membrane 1-phosphatidylinositol binding|metal ion binding|phosphatidylinositol-3,4,5-trisphosphate binding|protein binding|protein transporter activity 0 Lung NSC(167;0.00428)|all_lung(232;0.00455)|Ovarian(174;0.0261) OV - Ovarian serous cystadenocarcinoma(54;1.6e-46)|Epithelial(54;2.02e-41)|all cancers(79;5.05e-36) TAACTTAGTTCATGCAACCAA 0.358 NaN 0 0 0 0.146539 0 17 245 NR2F1 7025 broad.mit.edu 37 5 92929285 92929285 + Missense_Mutation SNP G G A TCGA-DK-A1AB-01A-11D-A13W-08 TCGA-DK-A1AB-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f0fb2ba-0351-4ce0-8b74-31aa3deecae1 6bb1a3eb-1659-4df1-935d-f8b2d710ace4 g.chr5:92929285G>A uc003kkj.2 + 3 2696 c.1009G>A c.(1009-1011)GAT>AAT p.D337N NM_005654 NP_005645 P10589 COT1_HUMAN nuclear receptor subfamily 2, group F, member 1 337 negative regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm ligand-regulated transcription factor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription coactivator activity|zinc ion binding urinary_tract(1)|ovary(1)|lung(1) 3 all_cancers(142;1.62e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0126)|Lung NSC(167;0.0155)|Ovarian(174;0.0218)|Prostate(281;0.173)|Colorectal(57;0.19) UCEC - Uterine corpus endometrioid carcinoma (5;0.0416)|all cancers(79;9.57e-18) TGGCCTGTCGGATGCGGCCCA 0.587 NaN 0 0 0 0.134883 0 28 90 SLCO6A1 133482 broad.mit.edu 37 5 101834305 101834305 + Missense_Mutation SNP C C G TCGA-DK-A1AB-01A-11D-A13W-08 TCGA-DK-A1AB-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f0fb2ba-0351-4ce0-8b74-31aa3deecae1 6bb1a3eb-1659-4df1-935d-f8b2d710ace4 g.chr5:101834305C>G uc003knn.2 - 1 416 c.244G>C c.(244-246)GAT>CAT p.D82H SLCO6A1_uc003kno.2_Missense_Mutation_p.D82H|SLCO6A1_uc003knp.2_Missense_Mutation_p.D82H|SLCO6A1_uc003knq.2_Missense_Mutation_p.D82H NM_173488 NP_775759 Q86UG4 SO6A1_HUMAN solute carrier organic anion transporter family, 82 Cytoplasmic (Potential). integral to membrane|plasma membrane transporter activity ovary(3)|skin(3)|central_nervous_system(1) 7 all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323) Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113) AAACTGTCATCCACTTCTCCC 0.493 NaN 0 0 0 0.139131 0 61 115 TSSK1B 83942 broad.mit.edu 37 5 112770004 112770004 + Missense_Mutation SNP G G A TCGA-DK-A1AB-01A-11D-A13W-08 TCGA-DK-A1AB-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f0fb2ba-0351-4ce0-8b74-31aa3deecae1 6bb1a3eb-1659-4df1-935d-f8b2d710ace4 g.chr5:112770004G>A uc003kqm.2 - 1 725 c.533C>T c.(532-534)TCA>TTA p.S178L MCC_uc003kql.3_Intron NM_032028 NP_114417 Q9BXA7 TSSK1_HUMAN testis-specific serine kinase 1 178 Protein kinase. cell differentiation|multicellular organismal development|spermatogenesis ATP binding|magnesium ion binding|protein serine/threonine kinase activity ovary(2)|skin(2)|stomach(1) 5 all_cancers(142;0.0138)|all_epithelial(76;0.000445)|Colorectal(10;0.00814)|Prostate(80;0.0115)|Ovarian(225;0.156) Epithelial(69;4.15e-08)|OV - Ovarian serous cystadenocarcinoma(64;4.49e-08)|all cancers(49;3.2e-06)|COAD - Colon adenocarcinoma(37;0.0371)|Colorectal(14;0.0449) ATACGCTGGTGACCCACAGAA 0.567 NaN 0 0 0 0.038147 0 7 28 MEGF10 84466 broad.mit.edu 37 5 126734416 126734416 + Missense_Mutation SNP G G C TCGA-DK-A1AB-01A-11D-A13W-08 TCGA-DK-A1AB-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f0fb2ba-0351-4ce0-8b74-31aa3deecae1 6bb1a3eb-1659-4df1-935d-f8b2d710ace4 g.chr5:126734416G>C uc003kuh.3 + 8 1070 c.708G>C c.(706-708)CAG>CAC p.Q236H MEGF10_uc010jdc.1_Missense_Mutation_p.Q236H|MEGF10_uc010jdd.1_Missense_Mutation_p.Q236H|MEGF10_uc003kui.3_Missense_Mutation_p.Q236H NM_032446 NP_115822 Q96KG7 MEG10_HUMAN multiple EGF-like-domains 10 precursor 236 Extracellular (Potential).|Necessary for interaction with AP2M1, self-assembly and formation of the irregular, mosaic-like adhesion pattern.|EGF-like 4. cell adhesion|phagocytosis basolateral plasma membrane|cell projection|integral to membrane|phagocytic cup ovary(4) 4 Prostate(80;0.165) KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488) OV - Ovarian serous cystadenocarcinoma(64;0.0657)|Epithelial(69;0.123) AGTGTGAGCAGAGATGCCCTT 0.507 NaN 0 0 0 0.069288 0 23 71 FCHSD1 89848 broad.mit.edu 37 5 141025388 141025388 + Missense_Mutation SNP C C G TCGA-DK-A1AB-01A-11D-A13W-08 TCGA-DK-A1AB-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f0fb2ba-0351-4ce0-8b74-31aa3deecae1 6bb1a3eb-1659-4df1-935d-f8b2d710ace4 g.chr5:141025388C>G uc003llk.2 - 13 1312 c.1261G>C c.(1261-1263)GAG>CAG p.E421Q FCHSD1_uc010jgg.2_Missense_Mutation_p.E104Q|FCHSD1_uc003llj.2_RNA NM_033449 NP_258260 Q86WN1 FCSD1_HUMAN FCH and double SH3 domains 1 421 FCHSD1/BRAF(2) skin(2)|ovary(1)|central_nervous_system(1) 4 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) AGCCGCCGCTCCTGCTCCACC 0.642 NaN 0 0 0 0.047766 0 4 9 GABRB2 2561 broad.mit.edu 37 5 160758051 160758051 + Missense_Mutation SNP C C T TCGA-DK-A1AB-01A-11D-A13W-08 TCGA-DK-A1AB-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f0fb2ba-0351-4ce0-8b74-31aa3deecae1 6bb1a3eb-1659-4df1-935d-f8b2d710ace4 g.chr5:160758051C>T uc003lys.1 - 9 1134 c.916G>A c.(916-918)GAC>AAC p.D306N GABRB2_uc011deh.1_Missense_Mutation_p.D145N|GABRB2_uc003lyr.1_Missense_Mutation_p.D306N|GABRB2_uc003lyt.1_Missense_Mutation_p.D306N|GABRB2_uc010jiu.1_Missense_Mutation_p.D243N NM_021911 NP_068711 P47870 GBRB2_HUMAN gamma-aminobutyric acid (GABA) A receptor, beta 306 Helical; (Probable). gamma-aminobutyric acid signaling pathway|synaptic transmission cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane chloride channel activity|GABA-A receptor activity 0 Renal(175;0.00259) Medulloblastoma(196;0.021)|all_neural(177;0.0463) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683) AGGTACATGTCAATGGCCTTC 0.483 NaN 0 0 0 0.139131 0 58 134 PDLIM7 9260 broad.mit.edu 37 5 176910713 176910713 + Missense_Mutation SNP C C G TCGA-DK-A1AB-01A-11D-A13W-08 TCGA-DK-A1AB-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f0fb2ba-0351-4ce0-8b74-31aa3deecae1 6bb1a3eb-1659-4df1-935d-f8b2d710ace4 g.chr5:176910713C>G uc003mhc.1 - 13 1391 c.1306G>C c.(1306-1308)GAA>CAA p.E436Q PDLIM7_uc003mha.1_Missense_Mutation_p.E330Q|PDLIM7_uc003mhb.1_Missense_Mutation_p.E402Q|PDLIM7_uc003mhd.1_Missense_Mutation_p.E288Q|PDLIM7_uc003mhe.1_RNA NM_005451 NP_005442 Q9NR12 PDLI7_HUMAN PDZ and LIM domain 7 isoform 1 436 LIM zinc-binding 3. cell differentiation|multicellular organismal development|ossification|receptor-mediated endocytosis cytoplasm|focal adhesion protein binding|zinc ion binding breast(1) 1 all_cancers(89;0.00033)|Renal(175;0.000269)|Lung NSC(126;0.00161)|all_lung(126;0.00286) all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) GTCTTTCCTTCCAGGTTGATC 0.587 NaN 0 0 0 0.021553 0 6 27 TBC1D9B 23061 broad.mit.edu 37 5 179318451 179318451 + Silent SNP G G A TCGA-DK-A1AB-01A-11D-A13W-08 TCGA-DK-A1AB-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f0fb2ba-0351-4ce0-8b74-31aa3deecae1 6bb1a3eb-1659-4df1-935d-f8b2d710ace4 g.chr5:179318451G>A uc003mlh.2 - 6 1009 c.972C>T c.(970-972)TTC>TTT p.F324F TBC1D9B_uc003mli.2_Silent_p.F324F|TBC1D9B_uc003mlj.2_Silent_p.F324F NM_198868 NP_942568 Q66K14 TBC9B_HUMAN TBC1 domain family, member 9B (with GRAM domain) 324 GRAM 2. integral to membrane|intracellular calcium ion binding|Rab GTPase activator activity breast(1)|skin(1) 2 all_cancers(89;0.000197)|all_epithelial(37;6.84e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243) all_cancers(40;0.0236)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) TGTTGGAGATGAACATCTGGC 0.597 NaN 0 0 0 0.054565 0 32 61 DSP 1832 broad.mit.edu 37 6 7581491 7581491 + Missense_Mutation SNP G G A TCGA-DK-A1AB-01A-11D-A13W-08 TCGA-DK-A1AB-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f0fb2ba-0351-4ce0-8b74-31aa3deecae1 6bb1a3eb-1659-4df1-935d-f8b2d710ace4 g.chr6:7581491G>A uc003mxp.1 + 23 5347 c.5068G>A c.(5068-5070)GAA>AAA p.E1690K DSP_uc003mxq.1_Intron NM_004415 NP_004406 P15924 DESP_HUMAN desmoplakin isoform I 1690 Central fibrous rod domain.|Potential. cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking cornified envelope|cytoplasm|desmosome protein binding, bridging|structural constituent of cytoskeleton central_nervous_system(6)|ovary(2)|skin(1) 9 Ovarian(93;0.0584) all_hematologic(90;0.236) OV - Ovarian serous cystadenocarcinoma(45;0.000508) GAAGGCGATAGAAGATAAAAG 0.458 NaN 0 0 0 0.134883 0 31 57 HIST1H3I 8354 broad.mit.edu 37 6 27839872 27839872 + Silent SNP C C T TCGA-DK-A1AB-01A-11D-A13W-08 TCGA-DK-A1AB-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f0fb2ba-0351-4ce0-8b74-31aa3deecae1 6bb1a3eb-1659-4df1-935d-f8b2d710ace4 g.chr6:27839872C>T uc003njy.2 - 1 228 c.222G>A c.(220-222)GAG>GAA p.E74E NM_003533 NP_003524 P68431 H31_HUMAN histone cluster 1, H3i 74 blood coagulation|nucleosome assembly|regulation of gene silencing|S phase nucleoplasm|nucleosome DNA binding|protein binding ovary(1) 1 CCTGTGCGATCTCCCGTACCA 0.622 NaN 0 0 0 0.116897 0 28 38 BAT3 7917 broad.mit.edu 37 6 31617000 31617000 + Silent SNP G G A TCGA-DK-A1AB-01A-11D-A13W-08 TCGA-DK-A1AB-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f0fb2ba-0351-4ce0-8b74-31aa3deecae1 6bb1a3eb-1659-4df1-935d-f8b2d710ace4 g.chr6:31617000G>A uc003nvg.3 - 4 713 c.399C>T c.(397-399)GTC>GTT p.V133V BAT3_uc003nvf.3_Silent_p.V133V|BAT3_uc003nvh.3_Silent_p.V133V|BAT3_uc003nvi.3_Silent_p.V133V|BAT3_uc011dnw.1_Silent_p.V133V|BAT3_uc011dnx.1_Silent_p.V133V|BAT3_uc003nvj.1_Silent_p.V133V NM_004639 NP_004630 P46379 BAG6_HUMAN HLA-B associated transcript-3 isoform a 133 apoptosis in response to endoplasmic reticulum stress|brain development|cell differentiation|chromatin modification|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|embryo development|internal peptidyl-lysine acetylation|kidney development|lung development|negative regulation of proteasomal ubiquitin-dependent protein catabolic process|protein stabilization|spermatogenesis|synaptonemal complex assembly|tail-anchored membrane protein insertion into ER membrane|transport|ubiquitin-dependent protein catabolic process BAT3 complex|nucleus polyubiquitin binding|proteasome binding|ribosome binding 0 TTCCAACCATGACATAGCTGT 0.552 NaN 0 0 0 0.117977 0 45 67 TNXB 7148 broad.mit.edu 37 6 32017875 32017875 + Silent SNP G G A TCGA-DK-A1AB-01A-11D-A13W-08 TCGA-DK-A1AB-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f0fb2ba-0351-4ce0-8b74-31aa3deecae1 6bb1a3eb-1659-4df1-935d-f8b2d710ace4 g.chr6:32017875G>A uc003nzl.2 - 27 9535 c.9333C>T c.(9331-9333)GTC>GTT p.V3111V NM_019105 NP_061978 P22105 TENX_HUMAN tenascin XB isoform 1 precursor 3158 Fibronectin type-III 23. actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction extracellular space|intracellular|proteinaceous extracellular matrix heparin binding|integrin binding 0 CTGAGATGGTGACCCCGTCCT 0.632 NaN 0 0 0 0.0333 0 15 14 PPP2R5D 5528 broad.mit.edu 37 6 42978430 42978430 + Missense_Mutation SNP G G C TCGA-DK-A1AB-01A-11D-A13W-08 TCGA-DK-A1AB-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f0fb2ba-0351-4ce0-8b74-31aa3deecae1 6bb1a3eb-1659-4df1-935d-f8b2d710ace4 g.chr6:42978430G>C uc003oth.2 + 14 1596 c.1510G>C c.(1510-1512)GAG>CAG p.E504Q MEA1_uc010jyc.1_Intron|PPP2R5D_uc003otg.2_Missense_Mutation_p.E472Q|PPP2R5D_uc010jyd.2_Missense_Mutation_p.E398Q|PPP2R5D_uc011dva.1_Missense_Mutation_p.E353Q|PPP2R5D_uc003oti.2_Missense_Mutation_p.E353Q|PPP2R5D_uc003otj.2_Missense_Mutation_p.E335Q NM_006245 NP_006236 Q14738 2A5D_HUMAN delta isoform of regulatory subunit B56, protein 504 nervous system development|signal transduction cytoplasm|nucleus|protein phosphatase type 2A complex protein binding|protein phosphatase type 2A regulator activity breast(1)|central_nervous_system(1) 2 Colorectal(64;0.00237)|all cancers(41;0.00411)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0664)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188) GGAAAGGGAAGAGATGTGGCA 0.542 NaN 0 0 0 0.069288 0 22 38 CUL9 23113 broad.mit.edu 37 6 43156401 43156401 + Missense_Mutation SNP G G C TCGA-DK-A1AB-01A-11D-A13W-08 TCGA-DK-A1AB-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f0fb2ba-0351-4ce0-8b74-31aa3deecae1 6bb1a3eb-1659-4df1-935d-f8b2d710ace4 g.chr6:43156401G>C uc003ouk.2 + 8 2203 c.2128G>C c.(2128-2130)GAG>CAG p.E710Q CUL9_uc003ouj.1_3'UTR|CUL9_uc003oul.2_Missense_Mutation_p.E710Q|CUL9_uc010jyk.2_5'UTR|CUL9_uc003oum.1_3'UTR NM_015089 NP_055904 Q8IWT3 CUL9_HUMAN p53-associated parkin-like cytoplasmic protein 710 ubiquitin-dependent protein catabolic process cullin-RING ubiquitin ligase complex|cytoplasm ATP binding|ubiquitin protein ligase binding|zinc ion binding ovary(5)|lung(3)|skin(2)|breast(1)|central_nervous_system(1) 12 TCAGGCTGTGGAGGAGGTCAC 0.577 NaN 0 0 0 0.11911 0 15 22 COL12A1 1303 broad.mit.edu 37 6 75843060 75843060 + Missense_Mutation SNP G G T TCGA-DK-A1AB-01A-11D-A13W-08 TCGA-DK-A1AB-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f0fb2ba-0351-4ce0-8b74-31aa3deecae1 6bb1a3eb-1659-4df1-935d-f8b2d710ace4 g.chr6:75843060G>T uc003phs.2 - 34 5909 c.5743C>A c.(5743-5745)CCC>ACC p.P1915T COL12A1_uc003pht.2_Missense_Mutation_p.P751T NM_004370 NP_004361 Q99715 COCA1_HUMAN collagen, type XII, alpha 1 long isoform 1915 Fibronectin type-III 14. cell adhesion|collagen fibril organization|skeletal system development collagen type XII|extracellular space extracellular matrix structural constituent conferring tensile strength ovary(6)|large_intestine(1)|breast(1)|skin(1) 9 GTATAAACGGGAACTACAGTC 0.373 NaN 1 0 5.61819e-17 0.108266 6.31302e-17 27 59 RIPPLY2 134701 broad.mit.edu 37 6 84563822 84563822 + Missense_Mutation SNP G G A TCGA-DK-A1AB-01A-11D-A13W-08 TCGA-DK-A1AB-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f0fb2ba-0351-4ce0-8b74-31aa3deecae1 6bb1a3eb-1659-4df1-935d-f8b2d710ace4 g.chr6:84563822G>A uc003pke.2 + 3 332 c.181G>A c.(181-183)GAT>AAT p.D61N NM_001009994 NP_001009994 Q5TAB7 RIPP2_HUMAN ripply2 protein 61 somite rostral/caudal axis specification nucleus 0 CCAGATGCCCGATGGCCCTGG 0.577 NaN 0 0 0 0.049695 0 17 34 DGKB 1607 broad.mit.edu 37 7 14733765 14733765 + Silent SNP G G A TCGA-DK-A1AB-01A-11D-A13W-08 TCGA-DK-A1AB-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f0fb2ba-0351-4ce0-8b74-31aa3deecae1 6bb1a3eb-1659-4df1-935d-f8b2d710ace4 g.chr7:14733765G>A uc003ssz.2 - 8 833 c.646C>T c.(646-648)CTG>TTG p.L216L DGKB_uc011jxt.1_Silent_p.L209L|DGKB_uc003sta.2_Silent_p.L216L|DGKB_uc011jxu.1_Silent_p.L216L|DGKB_uc011jxv.1_Silent_p.L216L NM_004080 NP_004071 Q9Y6T7 DGKB_HUMAN diacylglycerol kinase, beta isoform 1 216 EF-hand 2.|2 (Potential). activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation cytoplasm|plasma membrane ATP binding|calcium ion binding|diacylglycerol kinase activity|protein binding lung(5)|ovary(4)|breast(2)|skin(1) 12 Phosphatidylserine(DB00144) CATTCCTCCAGAGACACGGTT 0.443 NaN 0 0 0 0.038147 0 6 7 AHR 196 broad.mit.edu 37 7 17378911 17378911 + Nonsense_Mutation SNP G G T TCGA-DK-A1AB-01A-11D-A13W-08 TCGA-DK-A1AB-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f0fb2ba-0351-4ce0-8b74-31aa3deecae1 6bb1a3eb-1659-4df1-935d-f8b2d710ace4 g.chr7:17378911G>T uc011jxz.1 + 10 2075 c.1462G>T c.(1462-1464)GAA>TAA p.E488* AHR_uc003stt.3_RNA NM_001621 NP_001612 P35869 AHR_HUMAN aryl hydrocarbon receptor precursor 488 apoptosis|blood vessel development|cell cycle|regulation of B cell proliferation|response to stress|transcription from RNA polymerase II promoter|xenobiotic metabolic process cytosolic aryl hydrocarbon receptor complex|transcription factor complex Hsp90 protein binding|ligand-dependent nuclear receptor activity|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding urinary_tract(1)|kidney(1)|pancreas(1) 3 Lung NSC(10;0.0392)|all_lung(11;0.0754) CTTTTTCAACGAATCTATGAA 0.398 NaN 1 0 8.01111e-26 0.117977 9.13094e-26 44 122 GTF2IRD1 9569 broad.mit.edu 37 7 73933938 73933938 + Missense_Mutation SNP G G C TCGA-DK-A1AB-01A-11D-A13W-08 TCGA-DK-A1AB-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f0fb2ba-0351-4ce0-8b74-31aa3deecae1 6bb1a3eb-1659-4df1-935d-f8b2d710ace4 g.chr7:73933938G>C uc003uaq.2 + 6 1198 c.805G>C c.(805-807)GAG>CAG p.E269Q GTF2IRD1_uc010lbq.2_Missense_Mutation_p.E301Q|GTF2IRD1_uc003uap.2_Missense_Mutation_p.E269Q|GTF2IRD1_uc003uar.1_Missense_Mutation_p.E269Q NM_016328 NP_057412 Q9UHL9 GT2D1_HUMAN GTF2I repeat domain containing 1 isoform 1 269 nucleus DNA binding|protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity ovary(4) 4 CGCCATCCGAGAGCTCAAGCA 0.687 NaN 0 0 0 0.09319 0 12 45 SRCRB4D 136853 broad.mit.edu 37 7 76033741 76033741 + Missense_Mutation SNP C C T TCGA-DK-A1AB-01A-11D-A13W-08 TCGA-DK-A1AB-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f0fb2ba-0351-4ce0-8b74-31aa3deecae1 6bb1a3eb-1659-4df1-935d-f8b2d710ace4 g.chr7:76033741C>T uc003ufb.2 - 2 364 c.16G>A c.(16-18)GAG>AAG p.E6K ZP3_uc003ufc.3_Intron NM_080744 NP_542782 Q8WTU2 SRB4D_HUMAN scavenger receptor cysteine rich domain 6 extracellular region|membrane scavenger receptor activity pancreas(1) 1 ATTAGCATCTCTGCTTCCTTG 0.542 NaN 0 0 0 0.058154 0 10 71 RSBN1L 222194 broad.mit.edu 37 7 77408178 77408178 + Missense_Mutation SNP C C G TCGA-DK-A1AB-01A-11D-A13W-08 TCGA-DK-A1AB-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f0fb2ba-0351-4ce0-8b74-31aa3deecae1 6bb1a3eb-1659-4df1-935d-f8b2d710ace4 g.chr7:77408178C>G uc010ldt.1 + 8 2278 c.2234C>G c.(2233-2235)TCT>TGT p.S745C RSBN1L_uc003ugm.2_Missense_Mutation_p.S527C NM_198467 NP_940869 Q6PCB5 RSBNL_HUMAN round spermatid basic protein 1-like 745 nucleus ovary(1) 1 AAACTTCATTCTAAATATGAA 0.363 NaN 0 0 0 0.050027 0 35 85 ACN9 57001 broad.mit.edu 37 7 96810512 96810512 + Missense_Mutation SNP G G C TCGA-DK-A1AB-01A-11D-A13W-08 TCGA-DK-A1AB-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f0fb2ba-0351-4ce0-8b74-31aa3deecae1 6bb1a3eb-1659-4df1-935d-f8b2d710ace4 g.chr7:96810512G>C uc003uoo.3 + 2 1494 c.363G>C c.(361-363)ATG>ATC p.M121I NM_020186 NP_064571 Q9NRP4 ACN9_HUMAN ACN9 homolog precursor 121 regulation of gluconeogenesis mitochondrial intermembrane space 0 all_cancers(62;2.54e-08)|all_epithelial(64;2.24e-08)|Esophageal squamous(72;0.00507)|all_lung(186;0.154)|Lung NSC(181;0.159) CTGAGTCTATGAAACCAAAAT 0.318 NaN 0 0 0 0.058154 0 9 30 OR2F2 135948 broad.mit.edu 37 7 143633147 143633147 + Missense_Mutation SNP C C G TCGA-DK-A1AB-01A-11D-A13W-08 TCGA-DK-A1AB-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f0fb2ba-0351-4ce0-8b74-31aa3deecae1 6bb1a3eb-1659-4df1-935d-f8b2d710ace4 g.chr7:143633147C>G uc011ktv.1 + 1 822 c.822C>G c.(820-822)ATC>ATG p.I274M NM_001004685 NP_001004685 O95006 OR2F2_HUMAN olfactory receptor, family 2, subfamily F, 274 Helical; Name=7; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(3)|skin(1) 4 Melanoma(164;0.0903) AGAAGCTGATCTCTGTCTTCT 0.483 NaN 0 0 0 0.083992 0 23 78 SOX7 83595 broad.mit.edu 37 8 10584142 10584142 + Missense_Mutation SNP C C G TCGA-DK-A1AB-01A-11D-A13W-08 TCGA-DK-A1AB-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f0fb2ba-0351-4ce0-8b74-31aa3deecae1 6bb1a3eb-1659-4df1-935d-f8b2d710ace4 g.chr8:10584142C>G uc003wtf.2 - 2 352 c.273G>C c.(271-273)AAG>AAC p.K91N SOX7_uc011kwz.1_Missense_Mutation_p.K143N|uc003wtg.1_5'Flank NM_031439 NP_113627 Q9BT81 SOX7_HUMAN SRY-box 7 91 HMG box. endoderm formation|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|positive regulation of caspase activity|regulation of canonical Wnt receptor signaling pathway cytoplasm|nucleus transcription regulatory region DNA binding breast(1) 1 COAD - Colon adenocarcinoma(149;0.0732) CGTACGGCCTCTTCTGGGACA 0.602 NaN 0 0 0 0.047766 0 6 16 MTUS1 57509 broad.mit.edu 37 8 17612647 17612647 + Missense_Mutation SNP C C G TCGA-DK-A1AB-01A-11D-A13W-08 TCGA-DK-A1AB-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f0fb2ba-0351-4ce0-8b74-31aa3deecae1 6bb1a3eb-1659-4df1-935d-f8b2d710ace4 g.chr8:17612647C>G uc003wxv.2 - 2 1144 c.670G>C c.(670-672)GAT>CAT p.D224H MTUS1_uc010lsy.2_RNA|MTUS1_uc003wxw.2_Missense_Mutation_p.D224H|MTUS1_uc010lsz.2_Missense_Mutation_p.D224H NM_001001924 NP_001001924 Q9ULD2 MTUS1_HUMAN mitochondrial tumor suppressor 1 isoform 1 224 Golgi apparatus|microtubule|microtubule organizing center|mitochondrion|nucleus|plasma membrane|spindle ovary(1)|skin(1) 2 Colorectal(111;0.0778) CTTTCTCTATCATAAGTAGTT 0.418 NaN 0 0 0 0.083992 0 25 150 UNC5D 137970 broad.mit.edu 37 8 35406937 35406937 + Silent SNP G G A TCGA-DK-A1AB-01A-11D-A13W-08 TCGA-DK-A1AB-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f0fb2ba-0351-4ce0-8b74-31aa3deecae1 6bb1a3eb-1659-4df1-935d-f8b2d710ace4 g.chr8:35406937G>A uc003xjr.1 + 2 559 c.231G>A c.(229-231)GCG>GCA p.A77A UNC5D_uc003xjs.1_Silent_p.A72A NM_080872 NP_543148 Q6UXZ4 UNC5D_HUMAN unc-5 homolog D precursor 77 Extracellular (Potential).|Ig-like. apoptosis|axon guidance integral to membrane receptor activity upper_aerodigestive_tract(2)|ovary(2)|pancreas(1)|skin(1) 6 READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723) GGTGCAAAGCGAGGCCAGCCA 0.512 NaN 0 0 0 0.080935 0 12 39 SDCBP 6386 broad.mit.edu 37 8 59494245 59494245 + Silent SNP G G C TCGA-DK-A1AB-01A-11D-A13W-08 TCGA-DK-A1AB-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f0fb2ba-0351-4ce0-8b74-31aa3deecae1 6bb1a3eb-1659-4df1-935d-f8b2d710ace4 g.chr8:59494245G>C uc003xtn.2 + 9 993 c.843G>C c.(841-843)CGG>CGC p.R281R SDCBP_uc003xto.2_Silent_p.R280R|SDCBP_uc003xtr.2_Silent_p.R280R|SDCBP_uc003xtp.2_Silent_p.R275R|SDCBP_uc003xtq.2_Silent_p.R281R|SDCBP_uc003xts.2_Silent_p.R287R|SDCBP_uc011led.1_Silent_p.R222R NM_005625 NP_005616 O00560 SDCB1_HUMAN syntenin isoform 1 281 actin cytoskeleton organization|axon guidance|positive regulation of phosphorylation|protein targeting to membrane|substrate-dependent cell migration, cell extension|synaptic transmission cytoskeleton|cytosol|endoplasmic reticulum membrane|focal adhesion|interleukin-5 receptor complex|melanosome|nucleus cytoskeletal adaptor activity|frizzled binding|interleukin-5 receptor binding|protein heterodimerization activity|protein N-terminus binding|syndecan binding 0 all_lung(136;0.0271)|Lung NSC(129;0.0351)|all_epithelial(80;0.0554) TCTCTTGTAGGATGGCACCAA 0.383 NaN 0 0 0 0.076483 0 24 71 ZFHX4 79776 broad.mit.edu 37 8 77764240 77764240 + Nonsense_Mutation SNP C C T TCGA-DK-A1AB-01A-11D-A13W-08 TCGA-DK-A1AB-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f0fb2ba-0351-4ce0-8b74-31aa3deecae1 6bb1a3eb-1659-4df1-935d-f8b2d710ace4 g.chr8:77764240C>T uc003yav.2 + 10 5335 c.4948C>T c.(4948-4950)CAG>TAG p.Q1650* ZFHX4_uc003yau.1_Nonsense_Mutation_p.Q1695*|ZFHX4_uc003yaw.1_Nonsense_Mutation_p.Q1650* NM_024721 NP_078997 Q86UP3 ZFHX4_HUMAN zinc finger homeodomain 4 1650 Gln-rich. nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(8)|large_intestine(4)|breast(2)|lung(1) 15 BRCA - Breast invasive adenocarcinoma(89;0.0895) AGCACAAATTCAGATGCAACT 0.428 NaN HNSCC(33;0.089) 0 0 0 0.069288 0 23 61 COX6C 1345 broad.mit.edu 37 8 100904266 100904266 + Translation_Start_Site SNP G G C TCGA-DK-A1AB-01A-11D-A13W-08 TCGA-DK-A1AB-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f0fb2ba-0351-4ce0-8b74-31aa3deecae1 6bb1a3eb-1659-4df1-935d-f8b2d710ace4 g.chr8:100904266G>C uc003yiy.1 - 2 44 c.-16C>G c.(-18--14)ATCAA>ATGAA NM_004374 NP_004365 P09669 COX6C_HUMAN cytochrome c oxidase subunit VIc proprotein respiratory electron transport chain integral to membrane|mitochondrial inner membrane cytochrome-c oxidase activity HMGA2/COX6C(2) soft_tissue(2) 2 all cancers(13;8.32e-07)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169) TACTGTCCTTGATACGTAtgc 0.279 NaN T HMGA2 uterine leiomyoma 0 0 0 0.134883 0 28 73 DPYS 1807 broad.mit.edu 37 8 105459566 105459566 + Missense_Mutation SNP C C T TCGA-DK-A1AB-01A-11D-A13W-08 TCGA-DK-A1AB-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f0fb2ba-0351-4ce0-8b74-31aa3deecae1 6bb1a3eb-1659-4df1-935d-f8b2d710ace4 g.chr8:105459566C>T uc003yly.3 - 3 718 c.589G>A c.(589-591)GAC>AAC p.D197N NM_001385 NP_001376 Q14117 DPYS_HUMAN dihydropyrimidinase 197 protein homotetramerization|pyrimidine nucleoside catabolic process|thymine catabolic process|uracil catabolic process cytosol dihydropyrimidinase activity|zinc ion binding upper_aerodigestive_tract(1)|ovary(1) 2 OV - Ovarian serous cystadenocarcinoma(57;1.61e-06)|STAD - Stomach adenocarcinoma(118;0.229) GCAATTAAGTCTCCATTTTCC 0.453 NaN 0 0 0 0.09319 0 12 34 OXR1 55074 broad.mit.edu 37 8 107763046 107763046 + Silent SNP G G A TCGA-DK-A1AB-01A-11D-A13W-08 TCGA-DK-A1AB-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f0fb2ba-0351-4ce0-8b74-31aa3deecae1 6bb1a3eb-1659-4df1-935d-f8b2d710ace4 g.chr8:107763046G>A uc011lht.1 + 16 2601 c.2502G>A c.(2500-2502)GCG>GCA p.A834A OXR1_uc003ymf.2_Silent_p.A806A|OXR1_uc011lhu.1_Silent_p.A799A|OXR1_uc010mcg.2_RNA|OXR1_uc010mch.2_Silent_p.A462A|OXR1_uc003ymk.2_Silent_p.A203A|OXR1_uc003yml.2_Silent_p.A176A NM_018002 NP_060472 Q8N573 OXR1_HUMAN oxidation resistance 1 isoform 1 834 TLD. cell wall macromolecule catabolic process|response to oxidative stress mitochondrion 0 OV - Ovarian serous cystadenocarcinoma(57;1.81e-09) GAGAATTTGCGCTTTGGCTTG 0.323 NaN 0 0 0 0.0918 0 25 115 CSMD3 114788 broad.mit.edu 37 8 113348981 113348981 + Nonsense_Mutation SNP G G A TCGA-DK-A1AB-01A-11D-A13W-08 TCGA-DK-A1AB-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f0fb2ba-0351-4ce0-8b74-31aa3deecae1 6bb1a3eb-1659-4df1-935d-f8b2d710ace4 g.chr8:113348981G>A uc003ynu.2 - 44 7078 c.6919C>T c.(6919-6921)CAA>TAA p.Q2307* CSMD3_uc003yns.2_Nonsense_Mutation_p.Q1509*|CSMD3_uc003ynt.2_Nonsense_Mutation_p.Q2267*|CSMD3_uc011lhx.1_Nonsense_Mutation_p.Q2203*|CSMD3_uc003ynw.1_Nonsense_Mutation_p.Q18* NM_198123 NP_937756 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 isoform 1 2307 Extracellular (Potential).|CUB 13. integral to membrane|plasma membrane ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1) 63 AAACAATCTTGAAAGTTTGGA 0.373 NaN HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 0 0 0 0.064281 0 34 135 MTBP 27085 broad.mit.edu 37 8 121530149 121530149 + Missense_Mutation SNP C C T TCGA-DK-A1AB-01A-11D-A13W-08 TCGA-DK-A1AB-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f0fb2ba-0351-4ce0-8b74-31aa3deecae1 6bb1a3eb-1659-4df1-935d-f8b2d710ace4 g.chr8:121530149C>T uc003ypc.1 + 19 2350 c.2305C>T c.(2305-2307)CAC>TAC p.H769Y NM_022045 NP_071328 Q96DY7 MTBP_HUMAN Mdm2, transformed 3T3 cell double minute 2, p53 769 Interaction with MDM2 (By similarity). cell cycle arrest skin(2)|ovary(1) 3 Lung NSC(37;5.68e-08)|Ovarian(258;0.00769)|all_neural(195;0.0804)|Hepatocellular(40;0.161) STAD - Stomach adenocarcinoma(47;0.00503) TAATAGTAATCACTATCATCA 0.393 NaN 0 0 0 0.0918 0 25 79 FREM1 158326 broad.mit.edu 37 9 14776080 14776080 + Missense_Mutation SNP C C T rs61735747 by1000genomes TCGA-DK-A1AB-01A-11D-A13W-08 TCGA-DK-A1AB-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f0fb2ba-0351-4ce0-8b74-31aa3deecae1 6bb1a3eb-1659-4df1-935d-f8b2d710ace4 g.chr9:14776080C>T uc003zlm.2 - 25 5154 c.4564G>A c.(4564-4566)GTG>ATG p.V1522M FREM1_uc010mic.2_Intron|FREM1_uc003zlk.2_5'Flank|FREM1_uc003zll.2_Missense_Mutation_p.V58M NM_144966 NP_659403 Q5H8C1 FREM1_HUMAN FRAS1 related extracellular matrix 1 precursor 1522 CSPG 11. cell communication|multicellular organismal development basement membrane|integral to membrane metal ion binding|sugar binding ovary(2)|breast(2)|pancreas(1) 5 GBM - Glioblastoma multiforme(50;3.53e-06) AGCAGGCCCACGGCCCCTTGG 0.617 NaN 0 0 0 0.108266 0 27 67 HAUS6 54801 broad.mit.edu 37 9 19082988 19082988 + Missense_Mutation SNP C C G rs146901356 TCGA-DK-A1AB-01A-11D-A13W-08 TCGA-DK-A1AB-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f0fb2ba-0351-4ce0-8b74-31aa3deecae1 6bb1a3eb-1659-4df1-935d-f8b2d710ace4 g.chr9:19082988C>G uc003znk.2 - 8 1006 c.753G>C c.(751-753)GAG>GAC p.E251D HAUS6_uc011lmz.1_Missense_Mutation_p.E6D|HAUS6_uc003znl.1_Missense_Mutation_p.E115D|HAUS6_uc003znm.1_Missense_Mutation_p.E6D NM_017645 NP_060115 Q7Z4H7 HAUS6_HUMAN HAUS augmin-like complex, subunit 6 251 cell division|centrosome organization|mitosis|spindle assembly centrosome|HAUS complex|microtubule|nucleus|spindle ovary(2) 2 CAACTTCTCTCTCTTTTTCCA 0.353 NaN 0 0 0 0.049695 0 19 36 KIF27 55582 broad.mit.edu 37 9 86457231 86457231 + Missense_Mutation SNP C C G TCGA-DK-A1AB-01A-11D-A13W-08 TCGA-DK-A1AB-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f0fb2ba-0351-4ce0-8b74-31aa3deecae1 6bb1a3eb-1659-4df1-935d-f8b2d710ace4 g.chr9:86457231C>G uc004ana.2 - 17 3786 c.3642G>C c.(3640-3642)AAG>AAC p.K1214N KIF27_uc010mpw.2_Missense_Mutation_p.K1148N|KIF27_uc010mpx.2_Missense_Mutation_p.K1117N NM_017576 NP_060046 Q86VH2 KIF27_HUMAN kinesin family member 27 1214 Potential. cilium assembly|microtubule-based movement cilium|cytoplasm|microtubule ATP binding|microtubule motor activity lung(4)|skin(1) 5 GGCTGGTTTTCTTATAGAAAT 0.368 NaN 0 0 0 0.0918 0 23 45 RNF20 56254 broad.mit.edu 37 9 104309797 104309797 + Silent SNP G G A TCGA-DK-A1AB-01A-11D-A13W-08 TCGA-DK-A1AB-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f0fb2ba-0351-4ce0-8b74-31aa3deecae1 6bb1a3eb-1659-4df1-935d-f8b2d710ace4 g.chr9:104309797G>A uc004bbn.2 + 9 1179 c.1089G>A c.(1087-1089)CTG>CTA p.L363L NM_019592 NP_062538 Q5VTR2 BRE1A_HUMAN ring finger protein 20 363 Potential. histone H2B ubiquitination|histone monoubiquitination|negative regulation of cell migration|positive regulation of transcription, DNA-dependent|protein polyubiquitination|ubiquitin-dependent protein catabolic process nucleolus|ubiquitin ligase complex histone binding|p53 binding|transcription coactivator activity|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding ovary(4)|lung(1)|breast(1)|kidney(1)|skin(1) 8 all_hematologic(171;8.99e-06)|Acute lymphoblastic leukemia(62;0.000365)|Myeloproliferative disorder(762;0.0255) OV - Ovarian serous cystadenocarcinoma(323;2.88e-19)|STAD - Stomach adenocarcinoma(157;0.00311) ATGAAAAGCTGAAGGTAGGAA 0.448 NaN 0 0 0 0.069234 0 11 29 ABCA1 19 broad.mit.edu 37 9 107547853 107547853 + Missense_Mutation SNP C C G TCGA-DK-A1AB-01A-11D-A13W-08 TCGA-DK-A1AB-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f0fb2ba-0351-4ce0-8b74-31aa3deecae1 6bb1a3eb-1659-4df1-935d-f8b2d710ace4 g.chr9:107547853C>G uc004bcl.2 - 49 6782 c.6469G>C c.(6469-6471)GAT>CAT p.D2157H NIPSNAP3B_uc004bcj.1_Intron NM_005502 NP_005493 O95477 ABCA1_HUMAN ATP-binding cassette, sub-family A member 1 2157 Cdc42 protein signal transduction|cellular lipid metabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|endosome transport|G-protein coupled receptor protein signaling pathway|high-density lipoprotein particle assembly|interleukin-1 beta secretion|intracellular cholesterol transport|lysosome organization|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|platelet dense granule organization|positive regulation of cAMP biosynthetic process|reverse cholesterol transport integral to plasma membrane|membrane fraction|membrane raft|phagocytic vesicle anion transmembrane transporter activity|apolipoprotein A-I receptor activity|ATP binding|ATPase activity|cholesterol transporter activity|phospholipid transporter activity|small GTPase binding|syntaxin-13 binding large_intestine(4)|lung(4)|ovary(4)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|skin(1)|pancreas(1) 17 OV - Ovarian serous cystadenocarcinoma(323;0.023) Adenosine triphosphate(DB00171)|Glibenclamide(DB01016) CCAAAGAAATCCTGGACAGGC 0.438 NaN 0 0 0 0.059317 0 33 79 TRIM32 22954 broad.mit.edu 37 9 119460323 119460323 + Missense_Mutation SNP G G A TCGA-DK-A1AB-01A-11D-A13W-08 TCGA-DK-A1AB-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f0fb2ba-0351-4ce0-8b74-31aa3deecae1 6bb1a3eb-1659-4df1-935d-f8b2d710ace4 g.chr9:119460323G>A uc004bjx.2 + 2 460 c.302G>A c.(301-303)CGG>CAG p.R101Q ASTN2_uc004bjr.1_Intron|ASTN2_uc004bjs.1_Intron|ASTN2_uc004bjt.1_Intron|TRIM32_uc004bjw.2_Missense_Mutation_p.R101Q NM_001099679 NP_001093149 Q13049 TRI32_HUMAN tripartite motif-containing 32 101 fat cell differentiation|innate immune response|negative regulation of apoptosis|negative regulation of fibroblast proliferation|positive regulation of cell cycle|positive regulation of cell growth|positive regulation of cell migration|positive regulation of neurogenesis|positive regulation of neuron differentiation|positive regulation of NF-kappaB transcription factor activity|positive regulation of protein catabolic process|positive regulation of proteolysis|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to tumor necrosis factor|response to UV nucleus myosin binding|protein self-association|RNA binding|Tat protein binding|transcription coactivator activity|translation initiation factor binding|ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding central_nervous_system(2)|kidney(1) 3 CTCATGTGTCGGTCCTGTGGG 0.597 NaN Bardet-Biedl_syndrome 0 0 0 0.134883 0 25 78 FIBCD1 84929 broad.mit.edu 37 9 133780649 133780649 + Silent SNP G G C TCGA-DK-A1AB-01A-11D-A13W-08 TCGA-DK-A1AB-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f0fb2ba-0351-4ce0-8b74-31aa3deecae1 6bb1a3eb-1659-4df1-935d-f8b2d710ace4 g.chr9:133780649G>C uc004bzz.2 - 6 1343 c.1098C>G c.(1096-1098)CTC>CTG p.L366L FIBCD1_uc011mcc.1_Silent_p.L366L NM_032843 NP_116232 Q8N539 FBCD1_HUMAN fibrinogen C domain containing 1 366 Fibrinogen C-terminal.|Extracellular (Potential). signal transduction extracellular space|integral to membrane chitin binding|metal ion binding|receptor binding 0 all_hematologic(7;0.0028) OV - Ovarian serous cystadenocarcinoma(145;3.52e-05)|Epithelial(140;0.00019) CAGCCACGGTGAGCGGGTACC 0.657 NaN 0 0 0 0.038147 0 7 24 KDM6A 7403 broad.mit.edu 37 X 44969327 44969327 + Nonsense_Mutation SNP G G T TCGA-DK-A1AB-01A-11D-A13W-08 TCGA-DK-A1AB-10A-01D-A13W-08 G T G G Valid Somatic Phase_I WXS Fluidigm;RNASeq Illumina GAIIx 5f0fb2ba-0351-4ce0-8b74-31aa3deecae1 6bb1a3eb-1659-4df1-935d-f8b2d710ace4 g.chrX:44969327G>T uc004dge.3 + 28 4384 c.4009G>T c.(4009-4011)GAG>TAG p.E1337* KDM6A_uc011mkz.1_Nonsense_Mutation_p.E1389*|KDM6A_uc011mla.1_Nonsense_Mutation_p.E1292*|KDM6A_uc011mlb.1_Nonsense_Mutation_p.E1344*|KDM6A_uc011mlc.1_Nonsense_Mutation_p.E1041*|KDM6A_uc011mld.1_Nonsense_Mutation_p.E976* NM_021140 NP_066963 O15550 KDM6A_HUMAN ubiquitously transcribed tetratricopeptide 1337 histone H3-K4 methylation metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen 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 AAAACAGGTGGAGGTTTTTGA 0.348 NaN D|N|F|S renal|oesophageal SCC|MM 1 0 0.00307968 0.038147 0.00337703 8 71 APEX2 27301 broad.mit.edu 37 X 55033263 55033263 + Missense_Mutation SNP G G A TCGA-DK-A1AB-01A-11D-A13W-08 TCGA-DK-A1AB-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f0fb2ba-0351-4ce0-8b74-31aa3deecae1 6bb1a3eb-1659-4df1-935d-f8b2d710ace4 g.chrX:55033263G>A uc004dtz.2 + 6 1028 c.952G>A c.(952-954)GCA>ACA p.A318T APEX2_uc011mom.1_Missense_Mutation_p.A147T NM_014481 NP_055296 Q9UBZ4 APEX2_HUMAN apurinic/apyrimidinic endonuclease 2 318 cell cycle|DNA recombination|DNA repair nucleus DNA binding|DNA-(apurinic or apyrimidinic site) lyase activity|endonuclease activity|exonuclease activity|zinc ion binding breast(1) 1 CTCTGTGCCTGCAAAACAGTG 0.567 NaN Other_BER_factors 0 0 0 0.105934 0 13 24 KIAA2022 340533 broad.mit.edu 37 X 73964271 73964271 + Missense_Mutation SNP G G C TCGA-DK-A1AB-01A-11D-A13W-08 TCGA-DK-A1AB-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f0fb2ba-0351-4ce0-8b74-31aa3deecae1 6bb1a3eb-1659-4df1-935d-f8b2d710ace4 g.chrX:73964271G>C uc004eby.2 - 3 738 c.121C>G c.(121-123)CTA>GTA p.L41V NM_001008537 NP_001008537 Q5QGS0 K2022_HUMAN hypothetical protein LOC340533 41 base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|S phase of mitotic cell cycle delta DNA polymerase complex 3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity ovary(7)|large_intestine(4)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1) 15 GCAGCTTCTAGAGCTGCAAAT 0.463 NaN 0 0 0 0.105934 0 12 10 CDR1 1038 broad.mit.edu 37 X 139865962 139865962 + Silent SNP G G A TCGA-DK-A1AB-01A-11D-A13W-08 TCGA-DK-A1AB-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f0fb2ba-0351-4ce0-8b74-31aa3deecae1 6bb1a3eb-1659-4df1-935d-f8b2d710ace4 g.chrX:139865962G>A uc004fbg.1 - 1 762 c.570C>T c.(568-570)TTC>TTT p.F190F uc004fbf.1_RNA NM_004065 NP_004056 P51861 CDR1_HUMAN cerebellar degeneration-related protein 1, 190 5 X 6 AA approximate repeats.|3. 0 Acute lymphoblastic leukemia(192;7.65e-05) Lung SC(4;0.051) ACGTCTTCCAGAAAATCCATG 0.448 NaN 0 0 0 0.139131 0 69 139