Hugo_Symbol Entrez_Gene_Id Center NCBI_Build Chromosome Start_position End_position Strand Variant_Classification Variant_Type Reference_Allele Tumor_Seq_Allele1 Tumor_Seq_Allele2 dbSNP_RS dbSNP_Val_Status Tumor_Sample_Barcode Matched_Norm_Sample_Barcode Match_Norm_Seq_Allele1 Match_Norm_Seq_Allele2 Tumor_Validation_Allele1 Tumor_Validation_Allele2 Match_Norm_Validation_Allele1 Match_Norm_Validation_Allele2 Verification_Status Validation_Status Mutation_Status Sequencing_Phase Sequence_Source Validation_Method Score BAM_file Sequencer Tumor_Sample_UUID Matched_Norm_Sample_UUID Genome_Change Annotation_Transcript Transcript_Strand Transcript_Exon Transcript_Position cDNA_Change Codon_Change Protein_Change Other_Transcripts Refseq_mRNA_Id Refseq_prot_Id SwissProt_acc_Id SwissProt_entry_Id Description UniProt_AApos UniProt_Region UniProt_Site UniProt_Natural_Variations UniProt_Experimental_Info GO_Biological_Process GO_Cellular_Component GO_Molecular_Function COSMIC_overlapping_mutations COSMIC_fusion_genes COSMIC_tissue_types_affected COSMIC_total_alterations_in_gene Tumorscape_Amplification_Peaks Tumorscape_Deletion_Peaks TCGAscape_Amplification_Peaks TCGAscape_Deletion_Peaks DrugBank ref_context gc_content CCLE_ONCOMAP_overlapping_mutations CCLE_ONCOMAP_total_mutations_in_gene CGC_Mutation_Type CGC_Translocation_Partner CGC_Tumor_Types_Somatic CGC_Tumor_Types_Germline CGC_Other_Diseases DNARepairGenes_Role FamilialCancerDatabase_Syndromes MUTSIG_Published_Results OREGANNO_ID OREGANNO_Values t_alt_count t_ref_count validation_status validation_method validation_tumor_sample validation_alt_allele pox qox isArtifactMode oxoGCut CA6 765 broad.mit.edu 37 1 9034714 9034714 + Missense_Mutation SNP T T G TCGA-CV-7414-01A-11D-2078-08 TCGA-CV-7414-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7137f980-5301-4b18-9664-d887eaced75e 1d18702d-756c-4764-92d5-6ffbd598cc90 g.chr1:9034714T>G uc001apm.2 + 8 902 c.878T>G c.(877-879)CTA>CGA p.L293R CA6_uc009vmn.2_Missense_Mutation_p.L233R NM_001215 NP_001206 P23280 CAH6_HUMAN carbonic anhydrase VI precursor 293 one-carbon metabolic process extracellular region carbonate dehydratase activity|zinc ion binding ovary(2) 2 Ovarian(185;0.112)|all_lung(157;0.143) all_epithelial(116;1.02e-19)|all_lung(118;3.6e-06)|Lung NSC(185;7.94e-06)|Renal(390;0.000147)|Breast(348;0.00123)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.9e-07)|COAD - Colon adenocarcinoma(227;8.28e-05)|Kidney(185;0.000268)|KIRC - Kidney renal clear cell carcinoma(229;0.000971)|STAD - Stomach adenocarcinoma(132;0.00184)|BRCA - Breast invasive adenocarcinoma(304;0.00192)|READ - Rectum adenocarcinoma(331;0.0649) CAGTTTTACCTACATAAGATT 0.383 NA 8 10 0 0 0 0 SLC2A5 6518 broad.mit.edu 37 1 9097693 9097693 + Silent SNP C C T TCGA-CV-7414-01A-11D-2078-08 TCGA-CV-7414-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7137f980-5301-4b18-9664-d887eaced75e 1d18702d-756c-4764-92d5-6ffbd598cc90 g.chr1:9097693C>T uc001apo.2 - 12 1750 c.1458G>A c.(1456-1458)CCG>CCA p.P486P SLC2A5_uc010nzy.1_Silent_p.P427P|SLC2A5_uc010nzz.1_Silent_p.P371P|SLC2A5_uc010oaa.1_Silent_p.P442P|SLC2A5_uc010oab.1_Silent_p.P486P NM_003039 NP_003030 P22732 GTR5_HUMAN solute carrier family 2 (facilitated 486 Cytoplasmic (Potential). carbohydrate metabolic process integral to membrane|plasma membrane fructose transmembrane transporter activity|glucose transmembrane transporter activity pancreas(2)|ovary(1) 3 Ovarian(185;0.112)|all_lung(157;0.185) all_epithelial(116;1.34e-15)|all_lung(118;9.46e-05)|Lung NSC(185;0.000172)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.00715)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;7.78e-07)|COAD - Colon adenocarcinoma(227;8.83e-05)|Kidney(185;0.000286)|KIRC - Kidney renal clear cell carcinoma(229;0.00103)|STAD - Stomach adenocarcinoma(132;0.0019)|BRCA - Breast invasive adenocarcinoma(304;0.00199)|READ - Rectum adenocarcinoma(331;0.0649) CCTCCTTTTCCGGGTACACTT 0.507 NA 49 75 0 0 0 0 CLSTN1 22883 broad.mit.edu 37 1 9794124 9794124 + Silent SNP C C G TCGA-CV-7414-01A-11D-2078-08 TCGA-CV-7414-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7137f980-5301-4b18-9664-d887eaced75e 1d18702d-756c-4764-92d5-6ffbd598cc90 g.chr1:9794124C>G uc001aqh.2 - 15 2946 c.2187G>C c.(2185-2187)CTG>CTC p.L729L CLSTN1_uc001aqi.2_Silent_p.L719L|CLSTN1_uc010oag.1_Silent_p.L710L|CLSTN1_uc001aqf.2_5'Flank NM_001009566 NP_001009566 O94985 CSTN1_HUMAN calsyntenin 1 isoform 1 729 Extracellular (Potential). homophilic cell adhesion cell junction|cell projection|endoplasmic reticulum membrane|Golgi membrane|integral to membrane|nucleus|postsynaptic membrane calcium ion binding skin(1) 1 all_lung(157;0.222) all_lung(284;4.03e-05)|Lung NSC(185;6.93e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00314)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|Colorectal(212;8.36e-08)|COAD - Colon adenocarcinoma(227;1.93e-05)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(304;0.000949)|KIRC - Kidney renal clear cell carcinoma(229;0.00122)|STAD - Stomach adenocarcinoma(132;0.00644)|READ - Rectum adenocarcinoma(331;0.0419) GCTCGTGGTTCAGCTCCTCTC 0.572 NA 18 30 0 0 0 0 CROCC 9696 broad.mit.edu 37 1 17266512 17266512 + Missense_Mutation SNP G G A TCGA-CV-7414-01A-11D-2078-08 TCGA-CV-7414-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7137f980-5301-4b18-9664-d887eaced75e 1d18702d-756c-4764-92d5-6ffbd598cc90 g.chr1:17266512G>A uc001azt.2 + 13 1801 c.1732G>A c.(1732-1734)GAC>AAC p.D578N CROCC_uc009voy.1_Missense_Mutation_p.D281N|CROCC_uc009voz.1_Missense_Mutation_p.D341N|CROCC_uc001azu.2_5'UTR NM_014675 NP_055490 Q5TZA2 CROCC_HUMAN ciliary rootlet coiled-coil 578 Potential. cell cycle|cell projection organization|centrosome organization|protein localization actin cytoskeleton|centriole|ciliary rootlet|plasma membrane kinesin binding|structural molecule activity ovary(2)|breast(2)|central_nervous_system(1) 5 Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000174)|all_lung(284;0.000234)|Renal(390;0.000518)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.63e-06)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181) GGACAAGACCGACGGCGCCAT 0.706 NA 6 33 0 0 0 0 YRDC 79693 broad.mit.edu 37 1 38272639 38272639 + Missense_Mutation SNP T T C TCGA-CV-7414-01A-11D-2078-08 TCGA-CV-7414-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7137f980-5301-4b18-9664-d887eaced75e 1d18702d-756c-4764-92d5-6ffbd598cc90 g.chr1:38272639T>C uc001cca.1 - 3 527 c.514A>G c.(514-516)ATT>GTT p.I172V C1orf122_uc001ccb.1_5'Flank NM_024640 NP_078916 Q86U90 YRDC_HUMAN ischemia/reperfusion inducible protein 172 YrdC-like. negative regulation of transport membrane|mitochondrion 0 Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197) Myeloproliferative disorder(586;0.0255) GGAATCCGAATGCCTACAAGC 0.498 NA 17 20 0 0 0 0 ELOVL1 64834 broad.mit.edu 37 1 43830081 43830081 + Missense_Mutation SNP T T C TCGA-CV-7414-01A-11D-2078-08 TCGA-CV-7414-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7137f980-5301-4b18-9664-d887eaced75e 1d18702d-756c-4764-92d5-6ffbd598cc90 g.chr1:43830081T>C uc001ciz.2 - 8 775 c.532A>G c.(532-534)ATG>GTG p.M178V ELOVL1_uc001cja.2_Missense_Mutation_p.M178V|ELOVL1_uc001cjb.2_Missense_Mutation_p.M178V|ELOVL1_uc001cjc.2_RNA|ELOVL1_uc010okh.1_Missense_Mutation_p.M151V NM_022821 NP_073732 Q9BW60 ELOV1_HUMAN elongation of very long chain fatty acids-like 178 Helical; (Potential). fatty acid elongation, monounsaturated fatty acid|fatty acid elongation, saturated fatty acid|long-chain fatty-acyl-CoA biosynthetic process|sphingolipid biosynthetic process|triglyceride biosynthetic process|very long-chain fatty acid biosynthetic process integral to endoplasmic reticulum membrane fatty acid elongase activity|protein binding 0 all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0333) TACAGGTACATTATGACATGC 0.522 NA 66 105 0 0 0 0 CYP4A11 1579 broad.mit.edu 37 1 47403778 47403778 + Missense_Mutation SNP T T G TCGA-CV-7414-01A-11D-2078-08 TCGA-CV-7414-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7137f980-5301-4b18-9664-d887eaced75e 1d18702d-756c-4764-92d5-6ffbd598cc90 g.chr1:47403778T>G uc001cqp.3 - 2 278 c.227A>C c.(226-228)CAG>CCG p.Q76P CYP4A11_uc001cqq.2_Missense_Mutation_p.Q76P|CYP4A11_uc010omm.1_RNA NM_000778 NP_000769 Q02928 CP4AB_HUMAN cytochrome P450, family 4, subfamily A, 76 long-chain fatty acid metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome alkane 1-monooxygenase activity|electron carrier activity|heme binding|oxygen binding ovary(2)|skin(2) 4 NADH(DB00157) CACCCATTTCTGAATCCGTTG 0.488 NA 26 53 0 0 0 0 ZFYVE9 9372 broad.mit.edu 37 1 52759159 52759159 + Silent SNP C C T TCGA-CV-7414-01A-11D-2078-08 TCGA-CV-7414-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7137f980-5301-4b18-9664-d887eaced75e 1d18702d-756c-4764-92d5-6ffbd598cc90 g.chr1:52759159C>T uc001cto.2 + 11 3232 c.3060C>T c.(3058-3060)TTC>TTT p.F1020F ZFYVE9_uc001ctp.2_Silent_p.F961F NM_004799 NP_004790 O95405 ZFYV9_HUMAN zinc finger, FYVE domain containing 9 isoform 3 1020 endocytosis|SMAD protein complex assembly|SMAD protein import into nucleus|transforming growth factor beta receptor signaling pathway early endosome membrane metal ion binding|protein binding|receptor activity|serine-type peptidase activity ovary(2)|lung(2)|central_nervous_system(2)|skin(2) 8 ATTCCTTCTTCAGTCAAAGTT 0.348 NA 15 25 0 0 0 0 COL11A1 1301 broad.mit.edu 37 1 103427750 103427750 + Missense_Mutation SNP T T A TCGA-CV-7414-01A-11D-2078-08 TCGA-CV-7414-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7137f980-5301-4b18-9664-d887eaced75e 1d18702d-756c-4764-92d5-6ffbd598cc90 g.chr1:103427750T>A uc001dul.2 - 40 3414 c.3096A>T c.(3094-3096)AGA>AGT p.R1032S COL11A1_uc001duk.2_Missense_Mutation_p.R228S|COL11A1_uc001dum.2_Missense_Mutation_p.R1044S|COL11A1_uc001dun.2_Missense_Mutation_p.R993S|COL11A1_uc009weh.2_Missense_Mutation_p.R916S NM_001854 NP_001845 P12107 COBA1_HUMAN alpha 1 type XI collagen isoform A 1032 Triple-helical region. collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception collagen type XI extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging ovary(6)|breast(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1) 12 all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181) Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248) CAGGAAGACCTCTTTCCCCTG 0.388 NA 26 7 0 0 0 0 NBPF10 100132406 broad.mit.edu 37 1 145302676 145302676 + Missense_Mutation SNP G G T TCGA-CV-7414-01A-11D-2078-08 TCGA-CV-7414-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7137f980-5301-4b18-9664-d887eaced75e 1d18702d-756c-4764-92d5-6ffbd598cc90 g.chr1:145302676G>T uc001end.3 + 8 1149 c.1114G>T c.(1114-1116)GCT>TCT p.A372S NBPF10_uc009wir.2_Intron|NBPF9_uc010oye.1_Intron|NBPF9_uc010oyf.1_Intron|NBPF9_uc010oyg.1_Intron|NBPF10_uc001emp.3_Intron|NBPF10_uc010oyi.1_5'UTR|NBPF10_uc001emq.1_Missense_Mutation_p.A101S NM_001039703 NP_001034792 A6NDV3 A6NDV3_HUMAN hypothetical protein LOC100132406 372 0 all_hematologic(923;0.032) Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258) CCTGGTTCACGCTCAGGAACG 0.483 NA 3 36 0.004672 0.00475577 1 0 FCRL3 115352 broad.mit.edu 37 1 157666065 157666065 + Silent SNP C C G TCGA-CV-7414-01A-11D-2078-08 TCGA-CV-7414-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7137f980-5301-4b18-9664-d887eaced75e 1d18702d-756c-4764-92d5-6ffbd598cc90 g.chr1:157666065C>G uc001frb.2 - 7 1189 c.897G>C c.(895-897)CTG>CTC p.L299L FCRL3_uc001fqx.3_RNA|FCRL3_uc001fqy.3_RNA|FCRL3_uc001fqz.3_Silent_p.L299L|FCRL3_uc009wsn.2_RNA|FCRL3_uc009wso.2_RNA|FCRL3_uc001fra.2_Silent_p.L25L|FCRL3_uc001frc.1_Silent_p.L299L NM_052939 NP_443171 Q96P31 FCRL3_HUMAN Fc receptor-like 3 precursor 299 Ig-like C2-type 4.|Extracellular (Potential). integral to membrane|plasma membrane receptor activity ovary(3)|breast(1) 4 all_hematologic(112;0.0378) CTCCTTCAATCAGCTGCCCTC 0.517 NA 7 95 0 0 0 0 ARHGAP30 257106 broad.mit.edu 37 1 161021182 161021182 + Missense_Mutation SNP C C G TCGA-CV-7414-01A-11D-2078-08 TCGA-CV-7414-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7137f980-5301-4b18-9664-d887eaced75e 1d18702d-756c-4764-92d5-6ffbd598cc90 g.chr1:161021182C>G uc001fxl.2 - 10 1688 c.1342G>C c.(1342-1344)GAG>CAG p.E448Q ARHGAP30_uc001fxk.2_Missense_Mutation_p.E448Q|ARHGAP30_uc001fxm.2_Missense_Mutation_p.E294Q|ARHGAP30_uc009wtx.2_Missense_Mutation_p.E121Q|ARHGAP30_uc001fxn.1_Missense_Mutation_p.E294Q NM_001025598 NP_001020769 Q7Z6I6 RHG30_HUMAN Rho GTPase activating protein 30 isoform 1 448 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity ovary(2)|upper_aerodigestive_tract(1) 3 all_cancers(52;8.05e-20)|Breast(13;0.00188)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00122) GCAGGGCACTCAAGGCCACGG 0.433 NA 6 49 0 0 0 0 TOR1AIP2 163590 broad.mit.edu 37 1 179815318 179815318 + Missense_Mutation SNP G G C TCGA-CV-7414-01A-11D-2078-08 TCGA-CV-7414-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7137f980-5301-4b18-9664-d887eaced75e 1d18702d-756c-4764-92d5-6ffbd598cc90 g.chr1:179815318G>C uc001gnk.2 - 6 1689 c.1301C>G c.(1300-1302)TCC>TGC p.S434C TOR1AIP2_uc001gnl.2_Missense_Mutation_p.S434C NM_145034 NP_659471 Q8NFQ8 TOIP2_HUMAN torsin A interacting protein 2 434 endoplasmic reticulum membrane|integral to membrane protein binding ovary(1) 1 GTGGTTGAAGGAGGTGGGAGT 0.502 NA 5 61 0 0 0 0 DHX9 1660 broad.mit.edu 37 1 182845596 182845596 + Missense_Mutation SNP C C G TCGA-CV-7414-01A-11D-2078-08 TCGA-CV-7414-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7137f980-5301-4b18-9664-d887eaced75e 1d18702d-756c-4764-92d5-6ffbd598cc90 g.chr1:182845596C>G uc001gpr.2 + 18 2207 c.2044C>G c.(2044-2046)CAG>GAG p.Q682E DHX9_uc001gps.2_Missense_Mutation_p.Q468E|DHX9_uc001gpt.2_5'Flank NM_001357 NP_001348 Q08211 DHX9_HUMAN DEAH (Asp-Glu-Ala-His) box polypeptide 9 682 Helicase C-terminal. CRD-mediated mRNA stabilization|nuclear mRNA splicing, via spliceosome centrosome|CRD-mediated mRNA stability complex|nucleolus|nucleoplasm|ribonucleoprotein complex ATP binding|ATP-dependent DNA helicase activity|ATP-dependent RNA helicase activity|DNA binding|double-stranded RNA binding|protein binding ovary(2) 2 CCATCGGTATCAGATTCTACC 0.383 NA 6 56 0 0 0 0 CDK18 5129 broad.mit.edu 37 1 205499409 205499409 + Missense_Mutation SNP C C T TCGA-CV-7414-01A-11D-2078-08 TCGA-CV-7414-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7137f980-5301-4b18-9664-d887eaced75e 1d18702d-756c-4764-92d5-6ffbd598cc90 g.chr1:205499409C>T uc001hcr.2 + 14 1553 c.1334C>T c.(1333-1335)TCA>TTA p.S445L CDK18_uc001hcp.2_Missense_Mutation_p.S415L|CDK18_uc001hcq.2_Missense_Mutation_p.S415L|CDK18_uc010prj.1_Missense_Mutation_p.S326L|CDK18_uc001hcs.2_Missense_Mutation_p.S326L|CDK18_uc009xbm.1_3'UTR|CDK18_uc001hct.2_RNA NM_212503 NP_997668 Q07002 CDK18_HUMAN PCTAIRE protein kinase 3 isoform a 413 Protein kinase. ATP binding|cyclin-dependent protein kinase activity|protein binding|signal transducer activity stomach(2) 2 AGTCGCATGTCAGCAGAGGCT 0.622 NA 5 70 0 0 0 0 SLC26A9 115019 broad.mit.edu 37 1 205892256 205892256 + Missense_Mutation SNP C C T TCGA-CV-7414-01A-11D-2078-08 TCGA-CV-7414-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7137f980-5301-4b18-9664-d887eaced75e 1d18702d-756c-4764-92d5-6ffbd598cc90 g.chr1:205892256C>T uc001hdq.2 - 16 1841 c.1727G>A c.(1726-1728)AGA>AAA p.R576K SLC26A9_uc001hdo.2_Missense_Mutation_p.R244K|SLC26A9_uc001hdp.2_Missense_Mutation_p.R576K NM_052934 NP_443166 Q7LBE3 S26A9_HUMAN solute carrier family 26, member 9 isoform a 576 STAS. integral to membrane chloride channel activity|secondary active sulfate transmembrane transporter activity ovary(1)|skin(1) 2 Breast(84;0.201) BRCA - Breast invasive adenocarcinoma(75;0.0458) GGGCCTCATTCTCCGCTTCTC 0.517 NA 28 78 0 0 0 0 CR1 1378 broad.mit.edu 37 1 207787831 207787831 + Nonsense_Mutation SNP G G T TCGA-CV-7414-01A-11D-2078-08 TCGA-CV-7414-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7137f980-5301-4b18-9664-d887eaced75e 1d18702d-756c-4764-92d5-6ffbd598cc90 g.chr1:207787831G>T uc001hfy.2 + 32 5448 c.5308G>T c.(5308-5310)GAA>TAA p.E1770* CR1_uc001hfx.2_Nonsense_Mutation_p.E2220* NM_000573 NP_000564 P17927 CR1_HUMAN complement receptor 1 isoform F precursor 1770 Extracellular (Potential).|Sushi 27. complement activation, classical pathway|innate immune response integral to plasma membrane complement receptor activity ovary(3) 3 TCCAGTGTGTGAACGTGAGTA 0.408 NA 5 45 8.13e-05 8.38e-05 1 0 CAPN2 824 broad.mit.edu 37 1 223958200 223958200 + Missense_Mutation SNP G G A TCGA-CV-7414-01A-11D-2078-08 TCGA-CV-7414-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7137f980-5301-4b18-9664-d887eaced75e 1d18702d-756c-4764-92d5-6ffbd598cc90 g.chr1:223958200G>A uc001hob.3 + 18 2100 c.1876G>A c.(1876-1878)GAA>AAA p.E626K CAPN2_uc010puy.1_Missense_Mutation_p.E548K|CAPN2_uc001hoc.2_Missense_Mutation_p.E207K NM_001748 NP_001739 P17655 CAN2_HUMAN calpain 2 isoform 1 626 Domain IV.|EF-hand 2.|2. proteolysis cytoplasm|plasma membrane lung(3)|breast(1)|skin(1) 5 GBM - Glioblastoma multiforme(131;0.109) GAATTCCTATGAAATGCGGAA 0.393 NA 4 37 0 0 0 0 EXOC8 149371 broad.mit.edu 37 1 231473420 231473420 + Silent SNP C C T TCGA-CV-7414-01A-11D-2078-08 TCGA-CV-7414-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7137f980-5301-4b18-9664-d887eaced75e 1d18702d-756c-4764-92d5-6ffbd598cc90 g.chr1:231473420C>T uc001huq.2 - 1 159 c.72G>A c.(70-72)GCG>GCA p.A24A C1orf124_uc001hur.2_5'Flank|C1orf124_uc001hus.2_5'Flank|C1orf124_uc001hut.2_5'Flank NM_175876 NP_787072 Q8IYI6 EXOC8_HUMAN exocyst complex 84-kDa subunit 24 exocytosis|protein transport growth cone|nucleus protein binding skin(1) 1 Breast(184;0.0871) all_cancers(173;0.151)|Prostate(94;0.183) CGTACAGCCGCGCCTCAAAAC 0.677 NA 6 50 0 0 0 0 SIPA1L2 57568 broad.mit.edu 37 1 232615429 232615429 + Missense_Mutation SNP C C T TCGA-CV-7414-01A-11D-2078-08 TCGA-CV-7414-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7137f980-5301-4b18-9664-d887eaced75e 1d18702d-756c-4764-92d5-6ffbd598cc90 g.chr1:232615429C>T uc001hvg.2 - 5 2187 c.2029G>A c.(2029-2031)GAA>AAA p.E677K NM_020808 NP_065859 Q9P2F8 SI1L2_HUMAN signal-induced proliferation-associated 1 like 677 Rap-GAP. regulation of small GTPase mediated signal transduction intracellular GTPase activator activity ovary(2)|central_nervous_system(2)|pancreas(1)|skin(1) 6 all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186) AACATGAGTTCGTAGTCTTTG 0.458 NA 5 57 0 0 0 0 GPR137B 7107 broad.mit.edu 37 1 236347168 236347168 + Missense_Mutation SNP G G A rs147708340 TCGA-CV-7414-01A-11D-2078-08 TCGA-CV-7414-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7137f980-5301-4b18-9664-d887eaced75e 1d18702d-756c-4764-92d5-6ffbd598cc90 g.chr1:236347168G>A uc001hxq.2 + 5 1019 c.928G>A c.(928-930)GTT>ATT p.V310I GPR137B_uc001hxr.1_Missense_Mutation_p.V92I|GPR137B_uc009xge.2_RNA NM_003272 NP_003263 O60478 G137B_HUMAN G protein-coupled receptor 137B 310 Helical; (Potential). integral to plasma membrane|membrane fraction 0 Ovarian(103;0.0634)|Breast(184;0.247) all_cancers(173;0.197)|Prostate(94;0.219)|Acute lymphoblastic leukemia(190;0.226) OV - Ovarian serous cystadenocarcinoma(106;0.00162) CACCTTAGTCGTTTATTTCTT 0.373 NA 18 28 0 0 0 0 OR6F1 343169 broad.mit.edu 37 1 247875239 247875239 + Silent SNP A A C TCGA-CV-7414-01A-11D-2078-08 TCGA-CV-7414-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7137f980-5301-4b18-9664-d887eaced75e 1d18702d-756c-4764-92d5-6ffbd598cc90 g.chr1:247875239A>C uc001idj.1 - 1 819 c.819T>G c.(817-819)GCT>GCG p.A273A NM_001005286 NP_001005286 Q8NGZ6 OR6F1_HUMAN olfactory receptor, family 6, subfamily F, 273 Helical; Name=7; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) OV - Ovarian serous cystadenocarcinoma(106;0.0168) GGACGTGGACAGCTTTGATCA 0.483 NA 43 55 0 0 0 0 LARP4B 23185 broad.mit.edu 37 10 882344 882344 + Missense_Mutation SNP T T A TCGA-CV-7414-01A-11D-2078-08 TCGA-CV-7414-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7137f980-5301-4b18-9664-d887eaced75e 1d18702d-756c-4764-92d5-6ffbd598cc90 g.chr10:882344T>A uc001ifs.1 - 7 790 c.749A>T c.(748-750)GAA>GTA p.E250V NM_015155 NP_055970 Q92615 LAR4B_HUMAN La ribonucleoprotein domain family, member 4B 250 RRM. nucleotide binding|RNA binding ovary(2)|central_nervous_system(1) 3 ATTACTTACTTCCACGGGGGT 0.363 NA 15 33 0 0 0 0 SLC39A12 221074 broad.mit.edu 37 10 18276458 18276458 + Silent SNP C C T TCGA-CV-7414-01A-11D-2078-08 TCGA-CV-7414-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7137f980-5301-4b18-9664-d887eaced75e 1d18702d-756c-4764-92d5-6ffbd598cc90 g.chr10:18276458C>T uc001ipo.2 + 7 1420 c.1147C>T c.(1147-1149)CTG>TTG p.L383L SLC39A12_uc001ipn.2_Silent_p.L383L|SLC39A12_uc001ipp.2_Silent_p.L383L|SLC39A12_uc010qck.1_Silent_p.L249L NM_001145195 NP_001138667 Q504Y0 S39AC_HUMAN solute carrier family 39 (zinc transporter), 383 Helical; (Potential). zinc ion transport integral to membrane metal ion transmembrane transporter activity ovary(1)|breast(1) 2 GGGCTCCATGCTGGGGACAGC 0.557 NA 22 40 0 0 0 0 PDSS1 23590 broad.mit.edu 37 10 27035305 27035305 + Missense_Mutation SNP G G A TCGA-CV-7414-01A-11D-2078-08 TCGA-CV-7414-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7137f980-5301-4b18-9664-d887eaced75e 1d18702d-756c-4764-92d5-6ffbd598cc90 g.chr10:27035305G>A uc001isv.2 + 12 1197 c.1151G>A c.(1150-1152)TGC>TAC p.C384Y PDSS1_uc001isw.2_3'UTR|PDSS1_uc010qdf.1_Missense_Mutation_p.C122Y NM_014317 NP_055132 Q5T2R2 DPS1_HUMAN prenyl diphosphate synthase, subunit 1 384 isoprenoid biosynthetic process|ubiquinone biosynthetic process mitochondrion metal ion binding|protein heterodimerization activity 0 CAGCAGTACTGCCATGAAGCA 0.423 NA 6 49 0 0 0 0 ZNF248 57209 broad.mit.edu 37 10 38121209 38121209 + Silent SNP C C G TCGA-CV-7414-01A-11D-2078-08 TCGA-CV-7414-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7137f980-5301-4b18-9664-d887eaced75e 1d18702d-756c-4764-92d5-6ffbd598cc90 g.chr10:38121209C>G uc001izd.1 - 6 1573 c.1074G>C c.(1072-1074)GGG>GGC p.G358G ZNF248_uc009xmc.2_Intron|ZNF248_uc001izb.2_Intron|ZNF248_uc001izc.2_Intron|ZNF248_uc010qeu.1_Silent_p.G358G NM_021045 NP_066383 Q8NDW4 ZN248_HUMAN zinc finger protein 248 358 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 TGAAATTACTCCCATTTTCAT 0.403 NA 29 58 0 0 0 0 HNRNPF 3185 broad.mit.edu 37 10 43882509 43882509 + Missense_Mutation SNP C C T TCGA-CV-7414-01A-11D-2078-08 TCGA-CV-7414-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7137f980-5301-4b18-9664-d887eaced75e 1d18702d-756c-4764-92d5-6ffbd598cc90 g.chr10:43882509C>T uc009xmh.1 - 3 1311 c.824G>A c.(823-825)AGA>AAA p.R275K HNRNPF_uc001jar.2_Missense_Mutation_p.R275K|HNRNPF_uc001jas.2_Missense_Mutation_p.R275K|HNRNPF_uc001jat.2_Missense_Mutation_p.R275K|HNRNPF_uc001jav.2_Missense_Mutation_p.R275K|HNRNPF_uc001jau.2_Missense_Mutation_p.R275K|uc010qfa.1_Missense_Mutation_p.S64F NM_001098208 NP_001091678 P52597 HNRPF_HUMAN heterogeneous nuclear ribonucleoprotein F 275 regulation of RNA splicing catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm nucleotide binding|protein binding|single-stranded RNA binding 0 GTCGCCGTATCTGTGGTCATA 0.562 NA 16 11 0 0 0 0 TMEM72 643236 broad.mit.edu 37 10 45430193 45430193 + Missense_Mutation SNP G G C TCGA-CV-7414-01A-11D-2078-08 TCGA-CV-7414-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7137f980-5301-4b18-9664-d887eaced75e 1d18702d-756c-4764-92d5-6ffbd598cc90 g.chr10:45430193G>C uc001jbn.2 + 5 636 c.439G>C c.(439-441)GAG>CAG p.E147Q uc001jbk.1_Intron|uc001jbl.2_Intron|TMEM72_uc009xmm.1_Missense_Mutation_p.E29Q NM_001123376 NP_001116848 A0PK05 TMM72_HUMAN transmembrane protein 72 147 integral to membrane 0 GGCCTCCCCAGAGCAGTACAC 0.612 NA 7 83 0 0 0 0 OR13A1 79290 broad.mit.edu 37 10 45799279 45799279 + Missense_Mutation SNP C C T TCGA-CV-7414-01A-11D-2078-08 TCGA-CV-7414-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7137f980-5301-4b18-9664-d887eaced75e 1d18702d-756c-4764-92d5-6ffbd598cc90 g.chr10:45799279C>T uc001jcc.1 - 4 901 c.592G>A c.(592-594)GAG>AAG p.E198K OR13A1_uc001jcd.1_Missense_Mutation_p.E194K NM_001004297 NP_001004297 Q8NGR1 O13A1_HUMAN olfactory receptor, family 13, subfamily A, 198 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 GGAGGGACCTCGCAGAAGAAA 0.567 NA 17 23 0 0 0 0 FAM21C 253725 broad.mit.edu 37 10 46250521 46250521 + Missense_Mutation SNP G G A TCGA-CV-7414-01A-11D-2078-08 TCGA-CV-7414-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7137f980-5301-4b18-9664-d887eaced75e 1d18702d-756c-4764-92d5-6ffbd598cc90 g.chr10:46250521G>A uc001jcu.2 + 15 1477 c.1378G>A c.(1378-1380)GAC>AAC p.D460N FAM21C_uc001jcs.1_Missense_Mutation_p.D405N|FAM21C_uc001jct.2_Missense_Mutation_p.D460N|FAM21C_uc010qfi.1_Missense_Mutation_p.D436N|FAM21C_uc010qfj.1_5'UTR|FAM21C_uc010qfk.1_5'Flank NM_015262 NP_056077 A8K5W5 A8K5W5_HUMAN hypothetical protein LOC253725 460 ovary(1) 1 tgatgatgatgacgaCTTTTT 0.438 NA 10 13 0 0 0 0 LRRC18 474354 broad.mit.edu 37 10 50122006 50122006 + Missense_Mutation SNP G G C TCGA-CV-7414-01A-11D-2078-08 TCGA-CV-7414-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7137f980-5301-4b18-9664-d887eaced75e 1d18702d-756c-4764-92d5-6ffbd598cc90 g.chr10:50122006G>C uc001jhd.2 - 1 275 c.195C>G c.(193-195)ATC>ATG p.I65M WDFY4_uc001jha.3_Intron|LRRC18_uc001jhe.1_Missense_Mutation_p.I65M NM_001006939 NP_001006940 Q8N456 LRC18_HUMAN leucine rich repeat containing 18 65 LRR 2. cytoplasm ovary(1)|pancreas(1) 2 TGGAGTCAGGGATCTTCCTGA 0.527 NA 10 22 0 0 0 0 CDH23 64072 broad.mit.edu 37 10 73326583 73326583 + Nonsense_Mutation SNP C C T TCGA-CV-7414-01A-11D-2078-08 TCGA-CV-7414-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7137f980-5301-4b18-9664-d887eaced75e 1d18702d-756c-4764-92d5-6ffbd598cc90 g.chr10:73326583C>T uc001jrx.3 + 7 891 c.514C>T c.(514-516)CAG>TAG p.Q172* CDH23_uc001jrw.3_Nonsense_Mutation_p.Q172*|CDH23_uc001jrv.2_Nonsense_Mutation_p.Q167*|CDH23_uc009xql.2_Nonsense_Mutation_p.Q217* NM_022124 NP_071407 Q9H251 CAD23_HUMAN cadherin-like 23 isoform 1 precursor 172 Cadherin 2.|Extracellular (Potential). calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound cytosol|integral to membrane|plasma membrane|stereocilium calcium ion binding|protein binding central_nervous_system(5)|large_intestine(4)|ovary(2) 11 CTACTCCTTCCAGCCCCCCTC 0.612 NA 3 42 0 0 0 0 ATAD1 84896 broad.mit.edu 37 10 89536107 89536107 + Missense_Mutation SNP C C T TCGA-CV-7414-01A-11D-2078-08 TCGA-CV-7414-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7137f980-5301-4b18-9664-d887eaced75e 1d18702d-756c-4764-92d5-6ffbd598cc90 g.chr10:89536107C>T uc001key.1 - 5 944 c.661G>A c.(661-663)GAT>AAT p.D221N ATAD1_uc010qmr.1_Missense_Mutation_p.D163N|ATAD1_uc009xth.1_RNA|ATAD1_uc001kez.1_Missense_Mutation_p.D221N NM_032810 NP_116199 Q8NBU5 ATAD1_HUMAN ATPase family, AAA domain containing 1 221 peroxisome ATP binding|nucleoside-triphosphatase activity large_intestine(1)|ovary(1) 2 all_cancers(4;6.78e-12)|Prostate(4;3.56e-12)|all_epithelial(4;5.58e-09)|Melanoma(5;0.0273)|Breast(4;0.0424)|all_hematologic(4;0.0846)|Colorectal(252;0.207)|Glioma(4;0.217)|all_neural(4;0.224) UCEC - Uterine corpus endometrioid carcinoma (6;0.00131)|GBM - Glioblastoma multiforme(1;1.1e-32)|Lung(2;1.4e-05)|LUSC - Lung squamous cell carcinoma(2;2.69e-05)|Colorectal(12;7.09e-05)|COAD - Colon adenocarcinoma(12;0.000261)|STAD - Stomach adenocarcinoma(243;0.235) TCCAATCCATCCCAGAGACTC 0.403 NA 41 31 0 0 0 0 DNTT 1791 broad.mit.edu 37 10 98064368 98064368 + Silent SNP C C T TCGA-CV-7414-01A-11D-2078-08 TCGA-CV-7414-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7137f980-5301-4b18-9664-d887eaced75e 1d18702d-756c-4764-92d5-6ffbd598cc90 g.chr10:98064368C>T uc001kmf.2 + 1 284 c.114C>T c.(112-114)TTC>TTT p.F38F DNTT_uc001kmg.2_Silent_p.F38F NM_004088 NP_004079 P04053 TDT_HUMAN terminal deoxynucleotidyltransferase isoform 1 38 BRCT. DNA modification nucleus DNA binding|DNA nucleotidylexotransferase activity|DNA-directed DNA polymerase activity|metal ion binding ovary(1) 1 Colorectal(252;0.0815)|all_hematologic(284;0.224) Epithelial(162;7.97e-08)|all cancers(201;1.89e-06) TGGTCGTCTTCATTTTGGAGA 0.542 NA 13 12 0 0 0 0 SMC3 9126 broad.mit.edu 37 10 112360248 112360248 + Missense_Mutation SNP C C G TCGA-CV-7414-01A-11D-2078-08 TCGA-CV-7414-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7137f980-5301-4b18-9664-d887eaced75e 1d18702d-756c-4764-92d5-6ffbd598cc90 g.chr10:112360248C>G uc001kze.2 + 22 2605 c.2479C>G c.(2479-2481)CGA>GGA p.R827G NM_005445 NP_005436 Q9UQE7 SMC3_HUMAN structural maintenance of chromosomes 3 827 Potential. cell division|DNA mediated transformation|DNA repair|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic spindle organization|negative regulation of DNA endoreduplication|signal transduction|sister chromatid cohesion basement membrane|chromatin|chromosome, centromeric region|cytoplasm|meiotic cohesin complex|nuclear matrix|nucleoplasm|spindle pole ATP binding|dynein binding|microtubule motor activity|protein heterodimerization activity ovary(1)|central_nervous_system(1)|skin(1) 3 Breast(234;0.0848)|Lung NSC(174;0.238) Epithelial(162;0.00206)|all cancers(201;0.0227)|BRCA - Breast invasive adenocarcinoma(275;0.127) TATTATTACTCGAGTAGAGAC 0.328 NA 4 86 0 0 0 0 DOCK1 1793 broad.mit.edu 37 10 129224216 129224216 + Missense_Mutation SNP G G C TCGA-CV-7414-01A-11D-2078-08 TCGA-CV-7414-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7137f980-5301-4b18-9664-d887eaced75e 1d18702d-756c-4764-92d5-6ffbd598cc90 g.chr10:129224216G>C uc001ljt.2 + 47 4856 c.4792G>C c.(4792-4794)GAG>CAG p.E1598Q DOCK1_uc010qun.1_Missense_Mutation_p.E1619Q|DOCK1_uc009yaq.2_Missense_Mutation_p.E593Q NM_001380 NP_001371 Q14185 DOCK1_HUMAN dedicator of cytokinesis 1 1598 DHR-2. apoptosis|axon guidance|blood coagulation|integrin-mediated signaling pathway|phagocytosis, engulfment|small GTPase mediated signal transduction cytosol|membrane GTP binding|GTPase activator activity|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding central_nervous_system(4)|ovary(2)|lung(1)|breast(1)|kidney(1) 9 all_epithelial(44;2.3e-07)|all_lung(145;0.00466)|Lung NSC(174;0.00685)|Colorectal(57;0.0107)|Renal(717;0.0113)|Breast(234;0.0492)|all_neural(114;0.108)|all_hematologic(284;0.14) BRCA - Breast invasive adenocarcinoma(275;0.0221)|Colorectal(40;0.115) CGAGAGGATGGAGGCCTGTTT 0.507 NA 27 93 0 0 0 0 CYP2E1 1571 broad.mit.edu 37 10 135346344 135346344 + Missense_Mutation SNP C C G TCGA-CV-7414-01A-11D-2078-08 TCGA-CV-7414-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7137f980-5301-4b18-9664-d887eaced75e 1d18702d-756c-4764-92d5-6ffbd598cc90 g.chr10:135346344C>G uc001lnj.1 + 5 830 c.797C>G c.(796-798)ACC>AGC p.T266S CYP2E1_uc001lnk.1_Missense_Mutation_p.T129S|CYP2E1_uc009ybl.1_Missense_Mutation_p.T67S|CYP2E1_uc009ybm.1_5'UTR|CYP2E1_uc001lnl.1_Missense_Mutation_p.T67S NM_000773 NP_000764 P05181 CP2E1_HUMAN cytochrome P450, family 2, subfamily E, 266 drug metabolic process|heterocycle metabolic process|monoterpenoid metabolic process|steroid metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome electron carrier activity|enzyme binding|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NADH or NADPH as one donor, and incorporation of one atom of oxygen|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen|oxygen binding central_nervous_system(3) 3 all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203) OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06) Acetaminophen(DB00316)|Chlorzoxazone(DB00356)|Cinnarizine(DB00568)|Clofibrate(DB00636)|Dacarbazine(DB00851)|Dapsone(DB00250)|Enflurane(DB00228)|Eszopiclone(DB00402)|Ethanol(DB00898)|Ethosuximide(DB00593)|Fomepizole(DB01213)|Glutathione(DB00143)|Halothane(DB01159)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Isoniazid(DB00951)|Menadione(DB00170)|Mephenytoin(DB00532)|Methoxyflurane(DB01028)|Midazolam(DB00683)|Mitoxantrone(DB01204)|Nicotine(DB00184)|Nifedipine(DB01115)|Nitrofurantoin(DB00698)|Orphenadrine(DB01173)|Phenelzine(DB00780)|Quinidine(DB00908)|S-Adenosylmethionine(DB00118)|Sevoflurane(DB01236)|Theophylline(DB00277)|Tolbutamide(DB01124) CGGGACCTCACCGACTGCCTG 0.512 NA Naso-/Oropharyngeal/Laryngeal_Cancer_Familial_Clustering_of 18 24 0 0 0 0 SYCE1 93426 broad.mit.edu 37 10 135370596 135370596 + Missense_Mutation SNP C C G TCGA-CV-7414-01A-11D-2078-08 TCGA-CV-7414-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7137f980-5301-4b18-9664-d887eaced75e 1d18702d-756c-4764-92d5-6ffbd598cc90 g.chr10:135370596C>G uc001lno.2 - 7 544 c.439G>C c.(439-441)GAG>CAG p.E147Q CYP2E1_uc001lnl.1_3'UTR|SYCE1_uc001lnm.2_Missense_Mutation_p.E19Q|SYCE1_uc009ybn.2_Missense_Mutation_p.E147Q|SYCE1_uc001lnn.2_Missense_Mutation_p.E111Q NM_001143764 NP_001137236 Q8N0S2 SYCE1_HUMAN synaptonemal complex central element protein 1 147 Potential. cell division central element ovary(1) 1 all_cancers(35;7.01e-07)|all_epithelial(44;1.45e-05)|Lung NSC(174;0.027)|all_lung(145;0.0384)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175) OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06) TTGTTCTTCTCTTCTTCAATC 0.498 NA 14 290 0 0 0 0 ATHL1 80162 broad.mit.edu 37 11 294725 294725 + Silent SNP C C G TCGA-CV-7414-01A-11D-2078-08 TCGA-CV-7414-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7137f980-5301-4b18-9664-d887eaced75e 1d18702d-756c-4764-92d5-6ffbd598cc90 g.chr11:294725C>G uc010qvu.1 + 14 2305 c.2190C>G c.(2188-2190)CTC>CTG p.L730L ATHL1_uc001lor.3_Silent_p.L482L|ATHL1_uc001lou.3_Silent_p.L305L|ATHL1_uc001lov.3_Silent_p.L191L NM_025092 NP_079368 Q32M88 ATHL1_HUMAN ATH1, acid trehalase-like 1 730 carbohydrate metabolic process hydrolase activity, acting on glycosyl bonds liver(1)|central_nervous_system(1)|skin(1) 3 all_cancers(49;1.12e-06)|all_epithelial(84;0.000375)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762) all cancers(45;5.38e-28)|Epithelial(43;3.25e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0327)|LUSC - Lung squamous cell carcinoma(625;0.122) CCGAGTCACTCACTGTGGACC 0.627 NA 11 178 0 0 0 0 SLC25A22 79751 broad.mit.edu 37 11 794488 794488 + Missense_Mutation SNP G G A TCGA-CV-7414-01A-11D-2078-08 TCGA-CV-7414-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7137f980-5301-4b18-9664-d887eaced75e 1d18702d-756c-4764-92d5-6ffbd598cc90 g.chr11:794488G>A uc001lri.2 - 4 514 c.172C>T c.(172-174)CGC>TGC p.R58C SLC25A22_uc009yci.2_Missense_Mutation_p.R58C|SLC25A22_uc001lrj.2_Missense_Mutation_p.R58C|SLC25A22_uc009ycj.2_Missense_Mutation_p.R58C NM_024698 NP_078974 Q9H936 GHC1_HUMAN mitochondrial glutamate carrier 1 58 Solcar 1. integral to membrane|mitochondrial inner membrane|nucleus L-glutamate transmembrane transporter activity|protein binding|symporter activity 0 all_cancers(49;4.75e-06)|all_epithelial(84;0.00204)|Breast(177;0.00234)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762) all cancers(45;6.27e-26)|Epithelial(43;4.84e-25)|OV - Ovarian serous cystadenocarcinoma(40;2.72e-19)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703) L-Glutamic Acid(DB00142) CCCTCGGAGCGGACGGTCTTG 0.692 NA 4 11 0 0 0 0 SYT8 90019 broad.mit.edu 37 11 1858629 1858629 + Missense_Mutation SNP C C G TCGA-CV-7414-01A-11D-2078-08 TCGA-CV-7414-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7137f980-5301-4b18-9664-d887eaced75e 1d18702d-756c-4764-92d5-6ffbd598cc90 g.chr11:1858629C>G uc001lue.1 + 9 1302 c.1174C>G c.(1174-1176)CTT>GTT p.L392V SYT8_uc001lud.2_Missense_Mutation_p.L392V|SYT8_uc001luf.1_Missense_Mutation_p.L378V|TNNI2_uc010qxc.1_5'Flank|TNNI2_uc010qxd.1_5'Flank|TNNI2_uc010qxe.1_5'Flank NM_138567 NP_612634 Q8NBV8 SYT8_HUMAN synaptotagmin VIII 392 Cytoplasmic (Potential). acrosomal vesicle|integral to membrane|plasma membrane|synaptic vesicle transporter activity ovary(1) 1 all_epithelial(84;0.000138)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.00136)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082) GCAGCCCCGCCTTCGCCTGCG 0.726 NA 9 7 0 0 0 0 SYT9 143425 broad.mit.edu 37 11 7335110 7335110 + Missense_Mutation SNP C C G TCGA-CV-7414-01A-11D-2078-08 TCGA-CV-7414-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7137f980-5301-4b18-9664-d887eaced75e 1d18702d-756c-4764-92d5-6ffbd598cc90 g.chr11:7335110C>G uc001mfe.2 + 3 1219 c.982C>G c.(982-984)CTA>GTA p.L328V SYT9_uc001mfd.2_RNA|SYT9_uc009yfi.2_Intron NM_175733 NP_783860 Q86SS6 SYT9_HUMAN synaptotagmin IX 328 Cytoplasmic (Potential). cell junction|integral to membrane|synaptic vesicle membrane metal ion binding|transporter activity ovary(2)|large_intestine(1) 3 Epithelial(150;1.34e-07)|LUSC - Lung squamous cell carcinoma(625;0.0949) GGATCACTTCCTAGACTTGGC 0.478 NA 46 77 0 0 0 0 NRIP3 56675 broad.mit.edu 37 11 9007292 9007292 + Silent SNP G G A TCGA-CV-7414-01A-11D-2078-08 TCGA-CV-7414-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7137f980-5301-4b18-9664-d887eaced75e 1d18702d-756c-4764-92d5-6ffbd598cc90 g.chr11:9007292G>A uc001mhg.2 - 4 642 c.528C>T c.(526-528)GGC>GGT p.G176G NRIP3_uc010rbu.1_Intron NM_020645 NP_065696 Q9NQ35 NRIP3_HUMAN nuclear receptor interacting protein 3 176 proteolysis aspartic-type endopeptidase activity 0 Epithelial(150;4.77e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0241) GGCGGAGGGAGCCCAGTGTGA 0.542 NA 34 40 0 0 0 0 CSRP3 8048 broad.mit.edu 37 11 19209824 19209824 + Missense_Mutation SNP G G A TCGA-CV-7414-01A-11D-2078-08 TCGA-CV-7414-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7137f980-5301-4b18-9664-d887eaced75e 1d18702d-756c-4764-92d5-6ffbd598cc90 g.chr11:19209824G>A uc001mpk.2 - 3 257 c.140C>T c.(139-141)ACG>ATG p.T47M NM_003476 NP_003467 P50461 CSRP3_HUMAN cysteine and glycine-rich protein 3 47 LIM zinc-binding 1. cell differentiation|skeletal muscle tissue development cytoskeleton|nucleus protein binding|zinc ion binding 0 CGCGACTGTCGTGCTGTCAAG 0.557 NA 37 50 0 0 0 0 HARBI1 283254 broad.mit.edu 37 11 46625165 46625165 + Missense_Mutation SNP G G A TCGA-CV-7414-01A-11D-2078-08 TCGA-CV-7414-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7137f980-5301-4b18-9664-d887eaced75e 1d18702d-756c-4764-92d5-6ffbd598cc90 g.chr11:46625165G>A uc001ncy.2 - 3 1213 c.965C>T c.(964-966)CCG>CTG p.P322L NM_173811 NP_776172 Q96MB7 HARB1_HUMAN harbinger transposase derived 1 322 cytoplasm|nucleus metal ion binding|nuclease activity 0 CTCCTCTTCCGGGGGCTGTTC 0.512 NA 21 29 0 0 0 0 PTPRJ 5795 broad.mit.edu 37 11 48166647 48166647 + Nonsense_Mutation SNP C C G TCGA-CV-7414-01A-11D-2078-08 TCGA-CV-7414-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7137f980-5301-4b18-9664-d887eaced75e 1d18702d-756c-4764-92d5-6ffbd598cc90 g.chr11:48166647C>G uc001ngp.3 + 14 3237 c.2882C>G c.(2881-2883)TCA>TGA p.S961* NM_002843 NP_002834 Q12913 PTPRJ_HUMAN protein tyrosine phosphatase, receptor type, J 961 Extracellular (Potential). contact inhibition|negative regulation of cell growth|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of MAP kinase activity|negative regulation of platelet-derived growth factor receptor signaling pathway|negative regulation of protein kinase B signaling cascade|negative regulation of T cell receptor signaling pathway|negative regulation of vascular permeability|platelet-derived growth factor receptor signaling pathway|positive chemotaxis|positive regulation of focal adhesion assembly|positive regulation of protein kinase B signaling cascade|positive regulation of survival gene product expression cell surface|cell-cell junction|immunological synapse|integral to plasma membrane|ruffle membrane beta-catenin binding|delta-catenin binding|gamma-catenin binding|mitogen-activated protein kinase binding|platelet-derived growth factor receptor binding|protein tyrosine phosphatase activity breast(3)|kidney(3)|ovary(1)|skin(1) 8 AGTCGCTACTCAGATGCTGTT 0.537 NA 9 107 0 0 0 0 OR4S2 219431 broad.mit.edu 37 11 55419207 55419207 + Silent SNP C C T TCGA-CV-7414-01A-11D-2078-08 TCGA-CV-7414-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7137f980-5301-4b18-9664-d887eaced75e 1d18702d-756c-4764-92d5-6ffbd598cc90 g.chr11:55419207C>T uc001nhs.1 + 1 828 c.828C>T c.(826-828)ATC>ATT p.I276I NM_001004059 NP_001004059 Q8NH73 OR4S2_HUMAN olfactory receptor, family 4, subfamily S, 276 Helical; Name=7; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2)|ovary(1) 3 all_epithelial(135;0.0748) ACACCATTATCACTCCCATGT 0.408 NA 6 161 0 0 0 0 AHNAK 79026 broad.mit.edu 37 11 62297223 62297223 + Missense_Mutation SNP C C G TCGA-CV-7414-01A-11D-2078-08 TCGA-CV-7414-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7137f980-5301-4b18-9664-d887eaced75e 1d18702d-756c-4764-92d5-6ffbd598cc90 g.chr11:62297223C>G uc001ntl.2 - 5 4966 c.4666G>C c.(4666-4668)GAA>CAA p.E1556Q AHNAK_uc001ntk.1_Intron NM_001620 NP_001611 Q09666 AHNK_HUMAN AHNAK nucleoprotein isoform 1 1556 nervous system development nucleus protein binding ovary(10)|pancreas(4)|skin(4)|upper_aerodigestive_tract(1) 19 Melanoma(852;0.155) TCTGGAGCTTCAAGATTCACA 0.458 NA 54 109 0 0 0 0 CATSPER1 117144 broad.mit.edu 37 11 65789074 65789074 + Silent SNP C C G TCGA-CV-7414-01A-11D-2078-08 TCGA-CV-7414-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7137f980-5301-4b18-9664-d887eaced75e 1d18702d-756c-4764-92d5-6ffbd598cc90 g.chr11:65789074C>G uc001ogt.2 - 4 1722 c.1584G>C c.(1582-1584)CTG>CTC p.L528L NM_053054 NP_444282 Q8NEC5 CTSR1_HUMAN sperm-associated cation channel 1 528 Helical; Name=Segment S3; (Potential). cell differentiation|multicellular organismal development|spermatogenesis cilium|flagellar membrane|integral to membrane protein binding ovary(2) 2 GGGTCTGCATCAGCAAGAAGT 0.632 NA 9 6 0 0 0 0 SUV420H1 51111 broad.mit.edu 37 11 67941319 67941319 + Missense_Mutation SNP C C G TCGA-CV-7414-01A-11D-2078-08 TCGA-CV-7414-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7137f980-5301-4b18-9664-d887eaced75e 1d18702d-756c-4764-92d5-6ffbd598cc90 g.chr11:67941319C>G uc001onm.1 - 6 861 c.605G>C c.(604-606)AGA>ACA p.R202T SUV420H1_uc009yse.1_5'UTR|SUV420H1_uc001onn.1_Missense_Mutation_p.R30T|SUV420H1_uc009ysf.2_5'UTR|SUV420H1_uc001ono.1_Missense_Mutation_p.R202T|SUV420H1_uc001onp.2_Missense_Mutation_p.R202T|SUV420H1_uc010rqa.1_Missense_Mutation_p.R179T|SUV420H1_uc001onq.2_Missense_Mutation_p.R202T NM_017635 NP_060105 Q4FZB7 SV421_HUMAN suppressor of variegation 4-20 homolog 1 isoform 202 SET. regulation of transcription, DNA-dependent|transcription, DNA-dependent protein binding ovary(2)|kidney(1) 3 TGATGAGTATCTATTACATGG 0.284 NA 22 34 0 0 0 0 C11orf24 53838 broad.mit.edu 37 11 68029521 68029521 + Silent SNP G G A TCGA-CV-7414-01A-11D-2078-08 TCGA-CV-7414-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7137f980-5301-4b18-9664-d887eaced75e 1d18702d-756c-4764-92d5-6ffbd598cc90 g.chr11:68029521G>A uc001onr.3 - 4 1384 c.942C>T c.(940-942)ATC>ATT p.I314I C11orf24_uc001ons.2_Silent_p.I314I NM_022338 NP_071733 Q96F05 CK024_HUMAN hypothetical protein LOC53838 precursor 314 Extracellular (Potential).|Pro-rich. integral to membrane 0 CCATCTCAGGGATTGGGCTGG 0.667 NA 10 34 0 0 0 0 AQP11 282679 broad.mit.edu 37 11 77301533 77301533 + Missense_Mutation SNP G G A TCGA-CV-7414-01A-11D-2078-08 TCGA-CV-7414-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7137f980-5301-4b18-9664-d887eaced75e 1d18702d-756c-4764-92d5-6ffbd598cc90 g.chr11:77301533G>A uc001oyj.2 + 1 854 c.496G>A c.(496-498)GCG>ACG p.A166T AQP11_uc009yuu.2_Intron NM_173039 NP_766627 Q8NBQ7 AQP11_HUMAN aquaporin 11 166 Helical; Name=4; (Potential). cell surface|integral to membrane transporter activity 0 all_cancers(14;1.75e-17)|all_epithelial(13;4.7e-20)|Ovarian(111;0.249) Epithelial(5;4.73e-49)|BRCA - Breast invasive adenocarcinoma(5;1.4e-30) CTTGCTCAAAGCGGTCATCAC 0.567 NA 30 14 0 0 0 0 CCDC90B 60492 broad.mit.edu 37 11 82985036 82985036 + Splice_Site SNP C C G rs11556842 TCGA-CV-7414-01A-11D-2078-08 TCGA-CV-7414-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7137f980-5301-4b18-9664-d887eaced75e 1d18702d-756c-4764-92d5-6ffbd598cc90 g.chr11:82985036C>G uc001pae.2 - 5 789 c.427_splice c.e5-1 p.K143_splice CCDC90B_uc001pac.2_Splice_Site_p.K42_splice|CCDC90B_uc001pad.2_Splice_Site_p.K42_splice|CCDC90B_uc001paf.2_Splice_Site_p.K134_splice NM_021825 NP_068597 Q9GZT6 CC90B_HUMAN coiled-coil domain containing 90B precursor integral to membrane|mitochondrion|mitochondrion 0 Acute lymphoblastic leukemia(157;0.103) TTTTCATTTTCTAGGTACAGG 0.284 NA 6 5 0 0 0 0 KIAA1826 84437 broad.mit.edu 37 11 105880399 105880399 + Missense_Mutation SNP C C G TCGA-CV-7414-01A-11D-2078-08 TCGA-CV-7414-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7137f980-5301-4b18-9664-d887eaced75e 1d18702d-756c-4764-92d5-6ffbd598cc90 g.chr11:105880399C>G uc001piy.2 - 3 1074 c.901G>C c.(901-903)GAG>CAG p.E301Q KIAA1826_uc001piz.2_Missense_Mutation_p.E301Q NM_032424 NP_115800 Q8NCY6 K1826_HUMAN hypothetical protein LOC84437 301 Potential. nucleus breast(1) 1 Melanoma(852;0.000878)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0321) BRCA - Breast invasive adenocarcinoma(274;5.56e-05)|Epithelial(105;0.00432)|all cancers(92;0.0309) CGTTCTCGCTCAAGTTTTAAC 0.408 NA 6 74 0 0 0 0 OR10G8 219869 broad.mit.edu 37 11 123900988 123900988 + Missense_Mutation SNP T T C TCGA-CV-7414-01A-11D-2078-08 TCGA-CV-7414-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7137f980-5301-4b18-9664-d887eaced75e 1d18702d-756c-4764-92d5-6ffbd598cc90 g.chr11:123900988T>C uc001pzp.1 + 1 659 c.659T>C c.(658-660)ATC>ACC p.I220T NM_001004464 NP_001004464 Q8NGN5 O10G8_HUMAN olfactory receptor, family 10, subfamily G, 220 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|skin(1) 2 Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521) TATGTGTCCATCGTCTGTTCC 0.542 NA 29 11 0 0 0 0 DCP1B 196513 broad.mit.edu 37 12 2061703 2061703 + Missense_Mutation SNP G G C TCGA-CV-7414-01A-11D-2078-08 TCGA-CV-7414-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7137f980-5301-4b18-9664-d887eaced75e 1d18702d-756c-4764-92d5-6ffbd598cc90 g.chr12:2061703G>C uc001qjx.1 - 7 1483 c.1403C>G c.(1402-1404)TCT>TGT p.S468C DCP1B_uc010sdy.1_Missense_Mutation_p.S366C NM_152640 NP_689853 Q8IZD4 DCP1B_HUMAN decapping enzyme Dcp1b 468 exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay cytosol|nucleus hydrolase activity|protein binding skin(1) 1 OV - Ovarian serous cystadenocarcinoma(31;0.00193) TGGCCGGTTAGAGGCATGCAG 0.537 NA 6 67 0 0 0 0 TAS2R46 259292 broad.mit.edu 37 12 11214516 11214516 + Silent SNP C C T TCGA-CV-7414-01A-11D-2078-08 TCGA-CV-7414-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7137f980-5301-4b18-9664-d887eaced75e 1d18702d-756c-4764-92d5-6ffbd598cc90 g.chr12:11214516C>T uc001qzp.1 - 1 378 c.378G>A c.(376-378)AAG>AAA p.K126K PRR4_uc009zhp.2_Intron|PRH1_uc001qzb.3_Intron|PRH1_uc001qzc.2_Intron|PRB4_uc001qzf.1_Intron|PRH1_uc001qzj.2_Intron NM_176887 NP_795368 P59540 T2R46_HUMAN taste receptor, type 2, member 46 126 Cytoplasmic (Potential). sensory perception of taste cilium membrane|integral to membrane G-protein coupled receptor activity ovary(1) 1 OV - Ovarian serous cystadenocarcinoma(49;0.0344) BRCA - Breast invasive adenocarcinoma(232;0.196) GAACAACACTCTTAACTCTCC 0.348 NA 33 59 0 0 0 0 GRIN2B 2904 broad.mit.edu 37 12 13764753 13764753 + Missense_Mutation SNP C C T TCGA-CV-7414-01A-11D-2078-08 TCGA-CV-7414-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7137f980-5301-4b18-9664-d887eaced75e 1d18702d-756c-4764-92d5-6ffbd598cc90 g.chr12:13764753C>T uc001rbt.2 - 8 1865 c.1686G>A c.(1684-1686)ATG>ATA p.M562I NM_000834 NP_000825 Q13224 NMDE2_HUMAN N-methyl-D-aspartate receptor subunit 2B 562 Helical; (Potential). response to ethanol cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding central_nervous_system(4)|ovary(3)|skin(3)|lung(2) 12 Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043) GCATCACAAACATCATCACCC 0.478 NA 7 67 0 0 0 0 SLC38A2 54407 broad.mit.edu 37 12 46760703 46760703 + Silent SNP C C T TCGA-CV-7414-01A-11D-2078-08 TCGA-CV-7414-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7137f980-5301-4b18-9664-d887eaced75e 1d18702d-756c-4764-92d5-6ffbd598cc90 g.chr12:46760703C>T uc001rpg.2 - 7 947 c.507G>A c.(505-507)GTG>GTA p.V169V SLC38A2_uc010sli.1_5'Flank|SLC38A2_uc001rph.2_Silent_p.V69V NM_018976 NP_061849 Q96QD8 S38A2_HUMAN solute carrier family 38, member 2 169 Helical; (Potential). cellular nitrogen compound metabolic process|glutamate secretion|neurotransmitter secretion|sodium ion transport integral to membrane|plasma membrane amino acid transmembrane transporter activity|symporter activity urinary_tract(1)|skin(1) 2 Lung SC(27;0.192)|Renal(347;0.236) OV - Ovarian serous cystadenocarcinoma(5;0.0048)|Epithelial(2;0.0374) GBM - Glioblastoma multiforme(48;0.226) ACTCATATTTCACTATGAAGA 0.388 NA 14 37 0 0 0 0 GPD1 2819 broad.mit.edu 37 12 50500130 50500130 + Silent SNP C C T TCGA-CV-7414-01A-11D-2078-08 TCGA-CV-7414-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7137f980-5301-4b18-9664-d887eaced75e 1d18702d-756c-4764-92d5-6ffbd598cc90 g.chr12:50500130C>T uc001rvz.2 + 4 453 c.420C>T c.(418-420)CTC>CTT p.L140L GPD1_uc001rwa.2_Silent_p.L117L NM_005276 NP_005267 P21695 GPDA_HUMAN glycerol-3-phosphate dehydrogenase 1 (soluble) 140 glycerol-3-phosphate catabolic process|triglyceride biosynthetic process cytosol|glycerol-3-phosphate dehydrogenase complex glycerol-3-phosphate dehydrogenase|protein homodimerization activity 0 NADH(DB00157) GGGAGCGCCTCGGCATCCCCA 0.617 NA 11 10 0 0 0 0 TARBP2 6895 broad.mit.edu 37 12 53899914 53899914 + Silent SNP C C T TCGA-CV-7414-01A-11D-2078-08 TCGA-CV-7414-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7137f980-5301-4b18-9664-d887eaced75e 1d18702d-756c-4764-92d5-6ffbd598cc90 g.chr12:53899914C>T uc001sdo.2 + 9 1571 c.1083C>T c.(1081-1083)ATC>ATT p.I361I TARBP2_uc001sdp.2_Silent_p.I340I|TARBP2_uc001sdq.2_Silent_p.I217I|TARBP2_uc001sdr.2_Silent_p.I217I|TARBP2_uc001sds.2_3'UTR|TARBP2_uc001sdt.2_Silent_p.I340I|TARBP2_uc001sdu.2_Silent_p.I217I|TARBP2_uc001sdv.2_RNA NM_134323 NP_599150 Q15633 TRBP2_HUMAN TAR RNA binding protein 2 isoform a 361 Sufficient for interaction with DICER1.|DRBM 3.|Sufficient for interaction with PRKRA. miRNA loading onto RISC involved in gene silencing by miRNA|negative regulation of defense response to virus by host|negative regulation of protein kinase activity|positive regulation of viral genome replication|pre-miRNA processing|production of siRNA involved in RNA interference|regulation of transcription from RNA polymerase II promoter|regulation of translation|regulation of viral transcription|targeting of mRNA for destruction involved in RNA interference cytosol|nucleus|perinuclear region of cytoplasm|RNA-induced silencing complex double-stranded RNA binding|protein homodimerization activity|siRNA binding central_nervous_system(1) 1 ACCTCAAGATCATGGCAGGCA 0.617 NA 7 21 0 0 0 0 HOXC13 3229 broad.mit.edu 37 12 54332775 54332775 + Missense_Mutation SNP G G A TCGA-CV-7414-01A-11D-2078-08 TCGA-CV-7414-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7137f980-5301-4b18-9664-d887eaced75e 1d18702d-756c-4764-92d5-6ffbd598cc90 g.chr12:54332775G>A uc001sei.2 + 1 200 c.85G>A c.(85-87)GGC>AGC p.G29S HOXC13_uc010sop.1_RNA NM_017410 NP_059106 P31276 HXC13_HUMAN homeobox C13 29 Gly-rich. nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(1) 1 gagcggcatcggcggcggcgg 0.493 NA T NUP98 AML 5 5 0 0 0 0 MYO1A 4640 broad.mit.edu 37 12 57430774 57430774 + Silent SNP C C T TCGA-CV-7414-01A-11D-2078-08 TCGA-CV-7414-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7137f980-5301-4b18-9664-d887eaced75e 1d18702d-756c-4764-92d5-6ffbd598cc90 g.chr12:57430774C>T uc001smw.3 - 20 2400 c.2157G>A c.(2155-2157)CTG>CTA p.L719L MYO1A_uc010sqz.1_Silent_p.L557L|MYO1A_uc009zpd.2_Silent_p.L719L NM_005379 NP_005370 Q9UBC5 MYO1A_HUMAN myosin IA 719 IQ 1. sensory perception of sound|vesicle localization brush border|cortical actin cytoskeleton|filamentous actin|lateral plasma membrane|microvillus|myosin complex actin binding|ATP binding|calmodulin binding|motor activity skin(4)|ovary(2)|urinary_tract(1) 7 TCTTTCGCATCAGTTGGTAGT 0.522 NA 37 64 0 0 0 0 CRADD 8738 broad.mit.edu 37 12 94244018 94244018 + Missense_Mutation SNP C C T TCGA-CV-7414-01A-11D-2078-08 TCGA-CV-7414-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7137f980-5301-4b18-9664-d887eaced75e 1d18702d-756c-4764-92d5-6ffbd598cc90 g.chr12:94244018C>T uc001tda.2 + 3 675 c.571C>T c.(571-573)CCC>TCC p.P191S CRADD_uc010sur.1_Intron|CRADD_uc010sus.1_Intron NM_003805 NP_003796 P78560 CRADD_HUMAN CASP2 and RIPK1 domain containing adaptor with 191 apoptosis|cellular response to mechanical stimulus|induction of apoptosis via death domain receptors|signal transduction intracellular death domain binding|protease binding|protein binding, bridging ovary(1) 1 GGAGGTGGACCCCTCGCTGCT 0.632 NA 11 26 0 0 0 0 CCDC63 160762 broad.mit.edu 37 12 111318961 111318961 + Silent SNP G G A TCGA-CV-7414-01A-11D-2078-08 TCGA-CV-7414-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7137f980-5301-4b18-9664-d887eaced75e 1d18702d-756c-4764-92d5-6ffbd598cc90 g.chr12:111318961G>A uc001trv.1 + 7 909 c.714G>A c.(712-714)CAG>CAA p.Q238Q CCDC63_uc009zvt.1_Missense_Mutation_p.E93K|CCDC63_uc010sye.1_Silent_p.Q198Q|CCDC63_uc001trw.1_Silent_p.Q153Q NM_152591 NP_689804 Q8NA47 CCD63_HUMAN coiled-coil domain containing 63 238 Potential. skin(6)|ovary(1)|pancreas(1) 8 AAGACCGCCAGAAGAAGGACA 0.557 NA 3 21 0 0 0 0 KSR2 283455 broad.mit.edu 37 12 117968797 117968797 + Missense_Mutation SNP G G A TCGA-CV-7414-01A-11D-2078-08 TCGA-CV-7414-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7137f980-5301-4b18-9664-d887eaced75e 1d18702d-756c-4764-92d5-6ffbd598cc90 g.chr12:117968797G>A uc001two.2 - 12 1719 c.1664C>T c.(1663-1665)ACG>ATG p.T555M NM_173598 NP_775869 Q6VAB6 KSR2_HUMAN kinase suppressor of ras 2 584 intracellular signal transduction cytoplasm|membrane ATP binding|metal ion binding|protein serine/threonine kinase activity lung(10)|central_nervous_system(2)|stomach(1)|large_intestine(1)|breast(1) 15 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) CCGGGTCGGCGTCTCCGGCAC 0.562 NA 45 72 0 0 0 0 SRRM4 84530 broad.mit.edu 37 12 119568510 119568510 + Silent SNP G G A TCGA-CV-7414-01A-11D-2078-08 TCGA-CV-7414-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7137f980-5301-4b18-9664-d887eaced75e 1d18702d-756c-4764-92d5-6ffbd598cc90 g.chr12:119568510G>A uc001txa.1 + 8 934 c.642G>A c.(640-642)GGG>GGA p.G214G NM_194286 NP_919262 A7MD48 SRRM4_HUMAN KIAA1853 protein 214 Ser-rich. cell differentiation|mRNA processing|nervous system development|regulation of RNA splicing|RNA splicing nucleus mRNA binding ovary(2) 2 CTGAGGAAGGGCAGAAGTCCC 0.652 NA 5 4 0 0 0 0 UBC 7316 broad.mit.edu 37 12 125397967 125397967 + Missense_Mutation SNP C C G TCGA-CV-7414-01A-11D-2078-08 TCGA-CV-7414-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7137f980-5301-4b18-9664-d887eaced75e 1d18702d-756c-4764-92d5-6ffbd598cc90 g.chr12:125397967C>G uc001ugs.3 - 2 799 c.351G>C c.(349-351)CAG>CAC p.Q117H UBC_uc001ugr.2_5'Flank|UBC_uc001ugu.1_Missense_Mutation_p.Q117H|UBC_uc001ugt.2_Missense_Mutation_p.Q117H|UBC_uc001ugv.2_Intron|UBC_uc001ugw.2_5'UTR NM_021009 NP_066289 P0CG48 UBC_HUMAN ubiquitin C 117 Ubiquitin-like 2. activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|endosome transport|epidermal growth factor receptor signaling pathway|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|M/G1 transition of mitotic cell cycle|mRNA metabolic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|viral reproduction cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane protein binding ovary(2) 2 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;6.17e-05)|Epithelial(86;0.000207)|all cancers(50;0.00308) AGATCAACCTCTGCTGGTCAG 0.547 NA 60 112 0 0 0 0 USPL1 10208 broad.mit.edu 37 13 31233392 31233392 + Missense_Mutation SNP G G C TCGA-CV-7414-01A-11D-2078-08 TCGA-CV-7414-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7137f980-5301-4b18-9664-d887eaced75e 1d18702d-756c-4764-92d5-6ffbd598cc90 g.chr13:31233392G>C uc001utc.2 + 9 3610 c.3178G>C c.(3178-3180)GAT>CAT p.D1060H USPL1_uc001utd.2_Missense_Mutation_p.D731H|USPL1_uc001ute.1_Missense_Mutation_p.D731H NM_005800 NP_005791 Q5W0Q7 USPL1_HUMAN ubiquitin specific peptidase like 1 1060 ubiquitin-dependent protein catabolic process ubiquitin thiolesterase activity pancreas(2)|skin(1) 3 Lung SC(185;0.0257)|Breast(139;0.203) all cancers(112;0.0306)|Epithelial(112;0.131)|OV - Ovarian serous cystadenocarcinoma(117;0.134) GATGAAGACTGATATTTTCGA 0.378 NA 7 56 0 0 0 0 COG3 83548 broad.mit.edu 37 13 46092895 46092895 + Splice_Site SNP A A G TCGA-CV-7414-01A-11D-2078-08 TCGA-CV-7414-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7137f980-5301-4b18-9664-d887eaced75e 1d18702d-756c-4764-92d5-6ffbd598cc90 g.chr13:46092895A>G uc001vak.2 + 18 2032 c.1931_splice c.e18-2 p.D644_splice COG3_uc010tfv.1_Splice_Site_p.D481_splice|COG3_uc010aci.2_Splice_Site_p.D420_splice NM_031431 NP_113619 Q96JB2 COG3_HUMAN component of golgi transport complex 3 ER to Golgi vesicle-mediated transport|intra-Golgi vesicle-mediated transport|intracellular protein transport|protein glycosylation|protein localization to organelle|protein stabilization|retrograde vesicle-mediated transport, Golgi to ER cis-Golgi network|Golgi cisterna membrane|Golgi transport complex protein binding|protein transporter activity breast(1)|skin(1) 2 Lung NSC(96;0.000145)|Breast(56;0.000596)|Prostate(109;0.00438)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262) KIRC - Kidney renal clear cell carcinoma(16;0.234) GBM - Glioblastoma multiforme(144;0.000124) TTTGTTTCACAGATGCAGCAT 0.398 NA 6 56 0 0 0 0 LCP1 3936 broad.mit.edu 37 13 46732751 46732751 + Missense_Mutation SNP C C G TCGA-CV-7414-01A-11D-2078-08 TCGA-CV-7414-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7137f980-5301-4b18-9664-d887eaced75e 1d18702d-756c-4764-92d5-6ffbd598cc90 g.chr13:46732751C>G uc001vaz.3 - 4 390 c.264G>C c.(262-264)AAG>AAC p.K88N LCP1_uc001vba.3_Missense_Mutation_p.K88N NM_002298 NP_002289 P13796 PLSL_HUMAN L-plastin 88 regulation of intracellular protein transport|T cell activation involved in immune response cell junction|cytosol|ruffle membrane calcium ion binding lung(4)|ovary(3) 7 Lung NSC(96;1.27e-05)|Breast(56;8.04e-05)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262) KIRC - Kidney renal clear cell carcinoma(16;0.234) GBM - Glioblastoma multiforme(144;5.39e-05) TTCTAAAGGTCTTGGCAACAT 0.398 NA T BCL6 NHL 13 38 0 0 0 0 ARHGEF7 8874 broad.mit.edu 37 13 111919901 111919901 + Silent SNP C C G TCGA-CV-7414-01A-11D-2078-08 TCGA-CV-7414-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7137f980-5301-4b18-9664-d887eaced75e 1d18702d-756c-4764-92d5-6ffbd598cc90 g.chr13:111919901C>G uc001vrs.2 + 10 1270 c.1020C>G c.(1018-1020)CCC>CCG p.P340P ARHGEF7_uc001vrr.2_Silent_p.P319P|ARHGEF7_uc001vrt.2_Silent_p.P290P|ARHGEF7_uc010tjn.1_RNA|ARHGEF7_uc001vru.1_Silent_p.P162P|ARHGEF7_uc001vrv.3_Silent_p.P162P|ARHGEF7_uc001vrw.3_Silent_p.P162P|ARHGEF7_uc001vrx.3_Silent_p.P162P|ARHGEF7_uc010tjo.1_Silent_p.P237P|ARHGEF7_uc010tjp.1_Silent_p.P84P|ARHGEF7_uc010agn.1_Silent_p.P84P NM_001113511 NP_001106983 Q14155 ARHG7_HUMAN PAK-interacting exchange factor beta isoform c 340 DH. apoptosis|epidermal growth factor receptor signaling pathway|induction of apoptosis by extracellular signals|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol protein binding|Rho guanyl-nucleotide exchange factor activity ovary(2)|skin(2)|pancreas(1)|lung(1)|kidney(1) 7 all_lung(23;3.96e-05)|Lung NSC(43;0.00156)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Medulloblastoma(90;0.163) BRCA - Breast invasive adenocarcinoma(86;0.188) CCAGGTTGCCCGAAGCTCAGC 0.453 NA 33 130 0 0 0 0 ATP11A 23250 broad.mit.edu 37 13 113481013 113481013 + Silent SNP C C G TCGA-CV-7414-01A-11D-2078-08 TCGA-CV-7414-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7137f980-5301-4b18-9664-d887eaced75e 1d18702d-756c-4764-92d5-6ffbd598cc90 g.chr13:113481013C>G uc001vsi.3 + 12 1117 c.1029C>G c.(1027-1029)CTC>CTG p.L343L ATP11A_uc001vsj.3_Silent_p.L343L|ATP11A_uc001vsm.1_Silent_p.L219L NM_015205 NP_056020 P98196 AT11A_HUMAN ATPase, class VI, type 11A isoform a 343 Extracellular (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) TGCAGTTCCTCAAGGCATTCA 0.537 NA 19 89 0 0 0 0 RNASE10 338879 broad.mit.edu 37 14 20978796 20978796 + Missense_Mutation SNP A A T TCGA-CV-7414-01A-11D-2078-08 TCGA-CV-7414-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7137f980-5301-4b18-9664-d887eaced75e 1d18702d-756c-4764-92d5-6ffbd598cc90 g.chr14:20978796A>T uc010tlj.1 + 1 166 c.166A>T c.(166-168)ACT>TCT p.T56S RNASE10_uc001vxp.2_Missense_Mutation_p.T84S NM_001012975 NP_001012993 Q5GAN6 RNS10_HUMAN ribonuclease, RNase A family, 10 (non-active) 56 extracellular region nucleic acid binding|pancreatic ribonuclease activity 0 all_cancers(95;0.00123) Epithelial(56;1.81e-07)|all cancers(55;1.86e-06) GBM - Glioblastoma multiforme(265;0.022)|READ - Rectum adenocarcinoma(17;0.191) AGCTGAGGCCACTGAGGAGGG 0.488 NA 24 33 0 0 0 0 MMP14 4323 broad.mit.edu 37 14 23310776 23310776 + Missense_Mutation SNP C C T rs139231227 TCGA-CV-7414-01A-11D-2078-08 TCGA-CV-7414-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7137f980-5301-4b18-9664-d887eaced75e 1d18702d-756c-4764-92d5-6ffbd598cc90 g.chr14:23310776C>T uc001whc.2 + 2 419 c.185C>T c.(184-186)TCA>TTA p.S62L NM_004995 NP_004986 P50281 MMP14_HUMAN matrix metalloproteinase 14 preproprotein 62 extracellular matrix|integral to plasma membrane|melanosome calcium ion binding|metalloendopeptidase activity|zinc ion binding 0 all_cancers(95;9.47e-05) GBM - Glioblastoma multiforme(265;0.00551) CAGTCACTCTCAGCGGCCATC 0.557 NA 3 20 0 0 0 0 FOXG1 2290 broad.mit.edu 37 14 29237831 29237831 + Missense_Mutation SNP C C T TCGA-CV-7414-01A-11D-2078-08 TCGA-CV-7414-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7137f980-5301-4b18-9664-d887eaced75e 1d18702d-756c-4764-92d5-6ffbd598cc90 g.chr14:29237831C>T uc001wqe.2 + 1 1545 c.1346C>T c.(1345-1347)TCG>TTG p.S449L NM_005249 NP_005240 P55316 FOXG1_HUMAN forkhead box G1 449 ST -> RP (in Ref. 1; CAA52239).|QAPST -> AGPPRP (in Ref. 1; CAA52240 and 2; CAA55038). axon midline choice point recognition|central nervous system neuron development|dorsal/ventral pattern formation|embryo development ending in birth or egg hatching|hindbrain development|inner ear morphogenesis|negative regulation of neuron differentiation|negative regulation of transcription, DNA-dependent|nonmotile primary cilium assembly|nose development|positive regulation of cell cycle|positive regulation of neuroblast proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of mitotic cell cycle|regulation of sequence-specific DNA binding transcription factor activity|tissue development transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding ovary(2)|lung(2) 4 LUAD - Lung adenocarcinoma(48;0.011)|Lung(238;0.0575) GBM - Glioblastoma multiforme(265;0.00413) CAGGCCCCCTCGACCCTGCCC 0.582 NA 22 37 0 0 0 0 ARHGAP5 394 broad.mit.edu 37 14 32560615 32560615 + Missense_Mutation SNP A A G TCGA-CV-7414-01A-11D-2078-08 TCGA-CV-7414-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7137f980-5301-4b18-9664-d887eaced75e 1d18702d-756c-4764-92d5-6ffbd598cc90 g.chr14:32560615A>G uc001wrl.2 + 2 979 c.740A>G c.(739-741)GAT>GGT p.D247G ARHGAP5_uc001wrm.2_Missense_Mutation_p.D247G|ARHGAP5_uc001wrn.2_Missense_Mutation_p.D247G|ARHGAP5_uc001wro.2_Intron|ARHGAP5_uc001wrp.2_Intron NM_001173 NP_001025226 Q13017 RHG05_HUMAN Rho GTPase activating protein 5 isoform b 247 cell adhesion|Rho protein signal transduction cytosol|membrane GTP binding|GTPase activity|Rho GTPase activator activity|SH2 domain binding ovary(4)|central_nervous_system(1) 5 Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.186) LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0952)|STAD - Stomach adenocarcinoma(7;0.173) GBM - Glioblastoma multiforme(265;0.00566) CAAATGTTGGATAAAACTCGT 0.343 NA 55 92 0 0 0 0 AKAP6 9472 broad.mit.edu 37 14 33004796 33004796 + Missense_Mutation SNP A A G TCGA-CV-7414-01A-11D-2078-08 TCGA-CV-7414-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7137f980-5301-4b18-9664-d887eaced75e 1d18702d-756c-4764-92d5-6ffbd598cc90 g.chr14:33004796A>G uc001wrq.2 + 3 531 c.361A>G c.(361-363)ATC>GTC p.I121V AKAP6_uc010aml.2_Missense_Mutation_p.I118V NM_004274 NP_004265 Q13023 AKAP6_HUMAN A-kinase anchor protein 6 121 protein targeting calcium channel complex|nuclear membrane|sarcoplasmic reticulum protein kinase A binding|receptor binding breast(6)|ovary(5)|lung(4)|skin(3)|large_intestine(2)|pancreas(1) 21 Breast(36;0.0388)|Prostate(35;0.15) LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116) GBM - Glioblastoma multiforme(265;0.019) TGTTGAGCAAATCCATGCCCT 0.473 NA 30 63 0 0 0 0 RALGAPA1 253959 broad.mit.edu 37 14 36103865 36103865 + Silent SNP A A G TCGA-CV-7414-01A-11D-2078-08 TCGA-CV-7414-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7137f980-5301-4b18-9664-d887eaced75e 1d18702d-756c-4764-92d5-6ffbd598cc90 g.chr14:36103865A>G uc001wti.2 - 32 4783 c.4392T>C c.(4390-4392)TTT>TTC p.F1464F RALGAPA1_uc010amp.2_RNA|RALGAPA1_uc001wtj.2_Silent_p.F1464F|RALGAPA1_uc010tpv.1_Silent_p.F1477F|RALGAPA1_uc010tpw.1_Silent_p.F1511F NM_014990 NP_055805 Q6GYQ0 RGPA1_HUMAN Ral GTPase activating protein, alpha subunit 1 1464 Minimal domain that binds to TCF3/E12 (By similarity). activation of Ral GTPase activity cytosol|mitochondrion|nucleus protein heterodimerization activity|Ral GTPase activator activity ovary(3)|breast(1) 4 CCAAATGCATAAAAGGATCAT 0.423 NA 16 35 0 0 0 0 FRMD6 122786 broad.mit.edu 37 14 52156612 52156612 + Missense_Mutation SNP A A G TCGA-CV-7414-01A-11D-2078-08 TCGA-CV-7414-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7137f980-5301-4b18-9664-d887eaced75e 1d18702d-756c-4764-92d5-6ffbd598cc90 g.chr14:52156612A>G uc001wzd.2 + 2 343 c.58A>G c.(58-60)ATT>GTT p.I20V FRMD6_uc001wzb.2_Missense_Mutation_p.I20V|FRMD6_uc001wzc.2_Missense_Mutation_p.I20V NM_152330 NP_689543 Q96NE9 FRMD6_HUMAN FERM domain containing 6 20 FERM. cytoskeleton|mitochondrion|plasma membrane binding ovary(1)|breast(1)|central_nervous_system(1) 3 all_epithelial(31;0.0163)|Breast(41;0.089) CAGTGTGTGCATTTTCCTTCC 0.433 NA 23 21 0 0 0 0 PTGDR 5729 broad.mit.edu 37 14 52741596 52741596 + Missense_Mutation SNP C C T TCGA-CV-7414-01A-11D-2078-08 TCGA-CV-7414-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7137f980-5301-4b18-9664-d887eaced75e 1d18702d-756c-4764-92d5-6ffbd598cc90 g.chr14:52741596C>T uc001wzq.2 + 2 1096 c.994C>T c.(994-996)CGG>TGG p.R332W NM_000953 NP_000944 Q13258 PD2R_HUMAN prostaglandin D2 receptor 332 Cytoplasmic (Potential). integral to membrane|plasma membrane prostaglandin D receptor activity|protein binding ovary(1)|lung(1)|central_nervous_system(1)|skin(1) 4 Breast(41;0.0639)|all_epithelial(31;0.0887) Nedocromil(DB00716) TCCAGTATTTCGGATATTTTT 0.413 NA 11 13 0 0 0 0 RTN1 6252 broad.mit.edu 37 14 60072193 60072193 + Nonsense_Mutation SNP G G A TCGA-CV-7414-01A-11D-2078-08 TCGA-CV-7414-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7137f980-5301-4b18-9664-d887eaced75e 1d18702d-756c-4764-92d5-6ffbd598cc90 g.chr14:60072193G>A uc001xen.1 - 5 2214 c.2005C>T c.(2005-2007)CAG>TAG p.Q669* RTN1_uc001xem.1_Nonsense_Mutation_p.Q249*|RTN1_uc001xek.1_Nonsense_Mutation_p.Q101*|RTN1_uc001xel.1_RNA|RTN1_uc010apl.1_Nonsense_Mutation_p.Q86* NM_021136 NP_066959 Q16799 RTN1_HUMAN reticulon 1 isoform A 669 Reticulon. neuron differentiation integral to endoplasmic reticulum membrane signal transducer activity ovary(2)|central_nervous_system(2) 4 OV - Ovarian serous cystadenocarcinoma(108;0.0968) ATCTGCTCCTGAGAAAGGGTG 0.517 NA 13 35 0 0 0 0 ZBTB1 22890 broad.mit.edu 37 14 64988268 64988268 + Missense_Mutation SNP A A T TCGA-CV-7414-01A-11D-2078-08 TCGA-CV-7414-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7137f980-5301-4b18-9664-d887eaced75e 1d18702d-756c-4764-92d5-6ffbd598cc90 g.chr14:64988268A>T uc001xhh.3 + 4 477 c.46A>T c.(46-48)AAC>TAC p.N16Y ZBTB1_uc010aqg.2_Missense_Mutation_p.N16Y|ZBTB1_uc001xhi.2_Missense_Mutation_p.N16Y NM_001123329 NP_001116801 Q9Y2K1 ZBTB1_HUMAN zinc finger and BTB domain containing 1 isoform 16 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding skin(1) 1 all_lung(585;0.000567)|Myeloproliferative disorder(585;0.0255)|all_neural(303;0.0294) UCEC - Uterine corpus endometrioid carcinoma (185;0.0182)|all cancers(60;3.78e-43)|OV - Ovarian serous cystadenocarcinoma(108;1.22e-20)|BRCA - Breast invasive adenocarcinoma(234;6.75e-06)|KIRC - Kidney renal clear cell carcinoma(182;0.00269)|STAD - Stomach adenocarcinoma(64;0.012) GCAGCTAAACAACCAAAGAGA 0.393 NA 26 42 0 0 0 0 RDH11 51109 broad.mit.edu 37 14 68151825 68151825 + Missense_Mutation SNP G G C TCGA-CV-7414-01A-11D-2078-08 TCGA-CV-7414-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7137f980-5301-4b18-9664-d887eaced75e 1d18702d-756c-4764-92d5-6ffbd598cc90 g.chr14:68151825G>C uc001xjv.3 - 6 851 c.761C>G c.(760-762)TCC>TGC p.S254C RDH11_uc001xjw.3_Missense_Mutation_p.S241C|RDH11_uc001xjx.3_Missense_Mutation_p.S184C NM_016026 NP_057110 Q8TC12 RDH11_HUMAN retinol dehydrogenase 11 254 Cytoplasmic (Potential). retinol metabolic process|steroid metabolic process endoplasmic reticulum membrane|integral to membrane binding|NADP-retinol dehydrogenase activity|retinol dehydrogenase activity ovary(1) 1 all cancers(60;0.00047)|OV - Ovarian serous cystadenocarcinoma(108;0.00206)|BRCA - Breast invasive adenocarcinoma(234;0.00924) Vitamin A(DB00162) GATGAAAAAGGAGAAAAGCCA 0.493 NA 4 64 0 0 0 0 RDH12 145226 broad.mit.edu 37 14 68196078 68196078 + Missense_Mutation SNP C C G TCGA-CV-7414-01A-11D-2078-08 TCGA-CV-7414-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7137f980-5301-4b18-9664-d887eaced75e 1d18702d-756c-4764-92d5-6ffbd598cc90 g.chr14:68196078C>G uc001xjz.3 + 8 1153 c.829C>G c.(829-831)CTG>GTG p.L277V NM_152443 NP_689656 Q96NR8 RDH12_HUMAN retinol dehydrogenase 12 277 photoreceptor cell maintenance|response to stimulus|retinol metabolic process intracellular binding|retinol dehydrogenase activity ovary(1) 1 all cancers(60;0.000704)|OV - Ovarian serous cystadenocarcinoma(108;0.00161)|BRCA - Breast invasive adenocarcinoma(234;0.00953) Vitamin A(DB00162) CCTGGAGCCCCTGAGTGGCAA 0.642 NA 5 86 0 0 0 0 SIPA1L1 26037 broad.mit.edu 37 14 72138364 72138364 + Silent SNP T T C TCGA-CV-7414-01A-11D-2078-08 TCGA-CV-7414-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7137f980-5301-4b18-9664-d887eaced75e 1d18702d-756c-4764-92d5-6ffbd598cc90 g.chr14:72138364T>C uc001xms.2 + 8 3132 c.2784T>C c.(2782-2784)AGT>AGC p.S928S SIPA1L1_uc001xmt.2_Silent_p.S928S|SIPA1L1_uc001xmu.2_Silent_p.S928S|SIPA1L1_uc001xmv.2_Silent_p.S928S|SIPA1L1_uc010ttm.1_Silent_p.S403S NM_015556 NP_056371 O43166 SI1L1_HUMAN signal-induced proliferation-associated 1 like 928 actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome GTPase activator activity ovary(3)|breast(1) 4 all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109) CAGTGGGTAGTTTTATTAACA 0.398 NA 53 35 0 0 0 0 RGS6 9628 broad.mit.edu 37 14 72939626 72939626 + Missense_Mutation SNP C C G TCGA-CV-7414-01A-11D-2078-08 TCGA-CV-7414-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7137f980-5301-4b18-9664-d887eaced75e 1d18702d-756c-4764-92d5-6ffbd598cc90 g.chr14:72939626C>G uc001xna.3 + 9 1106 c.583C>G c.(583-585)CAA>GAA p.Q195E RGS6_uc010ttn.1_Missense_Mutation_p.Q195E|RGS6_uc001xmx.3_Missense_Mutation_p.Q195E|RGS6_uc010tto.1_RNA|RGS6_uc001xmy.3_Missense_Mutation_p.Q195E|RGS6_uc010ttp.1_Missense_Mutation_p.Q126E|RGS6_uc001xmz.1_Missense_Mutation_p.Q56E|RGS6_uc010arg.2_RNA NM_004296 NP_004287 P49758 RGS6_HUMAN regulator of G-protein signalling 6 195 G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway cytoplasm|heterotrimeric G-protein complex GTPase activator activity|signal transducer activity upper_aerodigestive_tract(1)|lung(1)|skin(1) 3 all cancers(60;0.00309)|BRCA - Breast invasive adenocarcinoma(234;0.0281)|STAD - Stomach adenocarcinoma(64;0.0302)|OV - Ovarian serous cystadenocarcinoma(108;0.0476) TTTGGATAGTCAAGAACGAGC 0.363 NA 11 219 0 0 0 0 SPTLC2 9517 broad.mit.edu 37 14 78028787 78028787 + Missense_Mutation SNP G G C TCGA-CV-7414-01A-11D-2078-08 TCGA-CV-7414-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7137f980-5301-4b18-9664-d887eaced75e 1d18702d-756c-4764-92d5-6ffbd598cc90 g.chr14:78028787G>C uc001xub.2 - 6 990 c.802C>G c.(802-804)CTG>GTG p.L268V NM_004863 NP_004854 O15270 SPTC2_HUMAN serine palmitoyltransferase, long chain base 268 integral to membrane|serine C-palmitoyltransferase complex pyridoxal phosphate binding|serine C-palmitoyltransferase activity|transferase activity, transferring nitrogenous groups upper_aerodigestive_tract(1)|ovary(1) 2 Kidney(204;0.164) BRCA - Breast invasive adenocarcinoma(234;0.0346) L-Serine(DB00133)|Pyridoxal Phosphate(DB00114) CTGGCTCCCAGAACCAGTGAT 0.453 NA 32 42 0 0 0 0 TDP1 55775 broad.mit.edu 37 14 90446954 90446954 + Missense_Mutation SNP G G C TCGA-CV-7414-01A-11D-2078-08 TCGA-CV-7414-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7137f980-5301-4b18-9664-d887eaced75e 1d18702d-756c-4764-92d5-6ffbd598cc90 g.chr14:90446954G>C uc001xxy.2 + 8 1161 c.862G>C c.(862-864)GAC>CAC p.D288H TDP1_uc010atm.2_RNA|TDP1_uc001xxz.2_Missense_Mutation_p.D288H|TDP1_uc010atn.2_Missense_Mutation_p.D288H|TDP1_uc001xya.2_Missense_Mutation_p.D49H|TDP1_uc001xyb.2_RNA|TDP1_uc010ato.2_Missense_Mutation_p.D288H NM_018319 NP_060789 Q9NUW8 TYDP1_HUMAN tyrosyl-DNA phosphodiesterase 1 288 cell death|double-strand break repair|single strand break repair cytoplasm|nucleus 3'-tyrosyl-DNA phosphodiesterase activity|double-stranded DNA binding|exonuclease activity|protein binding|single-stranded DNA binding ovary(2) 2 all_cancers(154;0.185) COAD - Colon adenocarcinoma(157;0.23) CATCCATGCTGACTGGCACCA 0.453 NA Repair_of_DNA-protein_crosslinks 8 42 0 0 0 0 C14orf102 55051 broad.mit.edu 37 14 90783141 90783141 + Nonsense_Mutation SNP G G C TCGA-CV-7414-01A-11D-2078-08 TCGA-CV-7414-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7137f980-5301-4b18-9664-d887eaced75e 1d18702d-756c-4764-92d5-6ffbd598cc90 g.chr14:90783141G>C uc001xyi.1 - 3 219 c.188C>G c.(187-189)TCA>TGA p.S63* C14orf102_uc001xyj.1_Intron NM_017970 NP_060440 Q9H7Z3 CN102_HUMAN hypothetical protein LOC55051 isoform 1 63 Potential. protein binding ovary(2)|lung(1) 3 all_cancers(154;0.118) COAD - Colon adenocarcinoma(157;0.218) TGAAGACTCTGATTTCAGATG 0.194 NA 11 50 0 0 0 0 PRIMA1 145270 broad.mit.edu 37 14 94245530 94245530 + Missense_Mutation SNP G G C TCGA-CV-7414-01A-11D-2078-08 TCGA-CV-7414-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7137f980-5301-4b18-9664-d887eaced75e 1d18702d-756c-4764-92d5-6ffbd598cc90 g.chr14:94245530G>C uc001ybw.1 - 3 263 c.221C>G c.(220-222)TCC>TGC p.S74C PRIMA1_uc001ybx.1_RNA NM_178013 NP_821092 Q86XR5 PRIMA_HUMAN proline rich membrane anchor 1 precursor 74 Extracellular (Potential). neurotransmitter catabolic process cell junction|integral to membrane|synapse large_intestine(1)|skin(1) 2 all_cancers(154;0.127) Epithelial(152;0.138)|COAD - Colon adenocarcinoma(157;0.229) ACCTggggcggagaggagtct 0.368 NA 3 7 0 0 0 0 MAGEL2 54551 broad.mit.edu 37 15 23890666 23890666 + Missense_Mutation SNP G G A TCGA-CV-7414-01A-11D-2078-08 TCGA-CV-7414-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7137f980-5301-4b18-9664-d887eaced75e 1d18702d-756c-4764-92d5-6ffbd598cc90 g.chr15:23890666G>A uc001ywj.3 - 1 510 c.415C>T c.(415-417)CGC>TGC p.R139C NM_019066 NP_061939 MAGE-like protein 2 0 all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14) all cancers(64;1.84e-06)|Epithelial(43;1.2e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177) GGGGCCCTGCGCTCCTTCGAG 0.577 NA 10 15 0 0 0 0 C15orf2 23742 broad.mit.edu 37 15 24923324 24923324 + Silent SNP T T A TCGA-CV-7414-01A-11D-2078-08 TCGA-CV-7414-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7137f980-5301-4b18-9664-d887eaced75e 1d18702d-756c-4764-92d5-6ffbd598cc90 g.chr15:24923324T>A uc001ywo.2 + 1 2784 c.2310T>A c.(2308-2310)CCT>CCA p.P770P NM_018958 NP_061831 Q9NZP6 CO002_HUMAN hypothetical protein LOC23742 770 cell differentiation|multicellular organismal development|spermatogenesis ovary(2)|large_intestine(2)|skin(2)|kidney(1)|central_nervous_system(1) 8 all_cancers(20;2.14e-21)|all_epithelial(15;4.77e-19)|Lung NSC(15;1.43e-14)|all_lung(15;9.57e-14)|Breast(32;0.00086) all cancers(64;3.19e-24)|Epithelial(43;2.67e-17)|GBM - Glioblastoma multiforme(186;7.36e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000273)|Lung(196;0.229) GAGCCACCCCTCAACCCAAAT 0.562 NA 55 112 0 0 0 0 TP53BP1 7158 broad.mit.edu 37 15 43708450 43708450 + Missense_Mutation SNP G G C TCGA-CV-7414-01A-11D-2078-08 TCGA-CV-7414-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7137f980-5301-4b18-9664-d887eaced75e 1d18702d-756c-4764-92d5-6ffbd598cc90 g.chr15:43708450G>C uc001zrs.2 - 22 4979 c.4831C>G c.(4831-4833)CTT>GTT p.L1611V TP53BP1_uc010udp.1_Missense_Mutation_p.L1611V|TP53BP1_uc001zrq.3_Missense_Mutation_p.L1616V|TP53BP1_uc001zrr.3_Missense_Mutation_p.L1616V|TP53BP1_uc010udq.1_Missense_Mutation_p.L1616V|TP53BP1_uc001zrp.2_Missense_Mutation_p.L28V NM_005657 NP_005648 Q12888 TP53B_HUMAN tumor protein p53 binding protein 1 isoform 3 1611 double-strand break repair via homologous recombination|positive regulation of transcription from RNA polymerase II promoter condensed chromosome kinetochore|cytoplasm|nucleoplasm p53 binding|RNA polymerase II activating transcription factor binding|RNA polymerase II transcription cofactor activity ovary(2)|skin(2)|large_intestine(1)|pancreas(1)|kidney(1) 7 all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728) GBM - Glioblastoma multiforme(94;1.59e-06) GCCTTTGTAAGAGGTGTTACT 0.483 NA Direct_reversal_of_damage|Other_conserved_DNA_damage_response_genes 5 75 0 0 0 0 SLC27A2 11001 broad.mit.edu 37 15 50494767 50494767 + Missense_Mutation SNP G G A TCGA-CV-7414-01A-11D-2078-08 TCGA-CV-7414-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7137f980-5301-4b18-9664-d887eaced75e 1d18702d-756c-4764-92d5-6ffbd598cc90 g.chr15:50494767G>A uc001zxw.2 + 3 1004 c.772G>A c.(772-774)GAT>AAT p.D258N SLC27A2_uc010bes.2_Intron|SLC27A2_uc001zxx.2_Missense_Mutation_p.D23N NM_003645 NP_003636 O14975 S27A2_HUMAN solute carrier family 27 (fatty acid 258 Lumenal (Potential). bile acid biosynthetic process|fatty acid alpha-oxidation endoplasmic reticulum membrane|integral to membrane|peroxisomal matrix|peroxisomal membrane ATP binding|long-chain fatty acid-CoA ligase activity|phytanate-CoA ligase activity|pristanate-CoA ligase activity ovary(1)|skin(1) 2 all_lung(180;0.00177) all cancers(107;1.16e-06)|GBM - Glioblastoma multiforme(94;0.000113) GAAGGCAGATGATGTCATCTA 0.428 NA 7 89 0 0 0 0 TRPM7 54822 broad.mit.edu 37 15 50940979 50940979 + Missense_Mutation SNP C C G TCGA-CV-7414-01A-11D-2078-08 TCGA-CV-7414-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7137f980-5301-4b18-9664-d887eaced75e 1d18702d-756c-4764-92d5-6ffbd598cc90 g.chr15:50940979C>G uc001zyt.3 - 4 490 c.226G>C c.(226-228)GAA>CAA p.E76Q TRPM7_uc010bew.1_Missense_Mutation_p.E76Q NM_017672 NP_060142 Q96QT4 TRPM7_HUMAN transient receptor potential cation channel, 76 Cytoplasmic (Potential). cell death integral to membrane ATP binding|calcium channel activity|metal ion binding|protein serine/threonine kinase activity ovary(4)|stomach(3)|breast(1)|central_nervous_system(1)|skin(1) 10 all cancers(107;0.000819)|GBM - Glioblastoma multiforme(94;0.0045) GACCATTCTTCTATTGCCTGA 0.413 NA 36 95 0 0 0 0 MYO5C 55930 broad.mit.edu 37 15 52515861 52515861 + Silent SNP C C T TCGA-CV-7414-01A-11D-2078-08 TCGA-CV-7414-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7137f980-5301-4b18-9664-d887eaced75e 1d18702d-756c-4764-92d5-6ffbd598cc90 g.chr15:52515861C>T uc010bff.2 - 29 3644 c.3507G>A c.(3505-3507)TTG>TTA p.L1169L MYO5C_uc010uga.1_RNA NM_018728 NP_061198 Q9NQX4 MYO5C_HUMAN myosin VC 1169 Potential. myosin complex actin binding|ATP binding|calmodulin binding|motor activity ovary(7)|central_nervous_system(3)|large_intestine(2)|skin(2) 14 all cancers(107;0.0137) CTTTGAAGTTCAAAGCTTCAA 0.398 NA 19 39 0 0 0 0 WDR72 256764 broad.mit.edu 37 15 53994481 53994481 + Silent SNP G G C TCGA-CV-7414-01A-11D-2078-08 TCGA-CV-7414-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7137f980-5301-4b18-9664-d887eaced75e 1d18702d-756c-4764-92d5-6ffbd598cc90 g.chr15:53994481G>C uc002acj.2 - 12 1461 c.1419C>G c.(1417-1419)CTC>CTG p.L473L WDR72_uc010bfi.1_Silent_p.L473L NM_182758 NP_877435 Q3MJ13 WDR72_HUMAN WD repeat domain 72 473 WD 6. lung(1)|skin(1) 2 all cancers(107;0.0511) ATTTCGAAGAGAGACCATGTG 0.378 NA 6 98 0 0 0 0 CCPG1 9236 broad.mit.edu 37 15 55653023 55653023 + Missense_Mutation SNP C C G TCGA-CV-7414-01A-11D-2078-08 TCGA-CV-7414-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7137f980-5301-4b18-9664-d887eaced75e 1d18702d-756c-4764-92d5-6ffbd598cc90 g.chr15:55653023C>G uc002acv.1 - 8 1113 c.948G>C c.(946-948)AAG>AAC p.K316N CCPG1_uc002acy.2_Missense_Mutation_p.K316N|CCPG1_uc002acu.1_Missense_Mutation_p.K172N|CCPG1_uc002acw.1_Missense_Mutation_p.K41N|CCPG1_uc002acx.2_Intron|CCPG1_uc010bfk.1_Missense_Mutation_p.K316N|CCPG1_uc002acz.1_Missense_Mutation_p.K316N NM_020739 NP_065790 Q9ULG6 CCPG1_HUMAN cell cycle progression 1 isoform 2 316 Potential.|Lumenal (Potential). cell cycle integral to membrane ovary(1) 1 all cancers(107;0.0354) CTTTTTCTTCCTTCTCCAAGG 0.358 NA 3 54 0 0 0 0 VPS13C 54832 broad.mit.edu 37 15 62258317 62258317 + Nonsense_Mutation SNP G G A TCGA-CV-7414-01A-11D-2078-08 TCGA-CV-7414-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7137f980-5301-4b18-9664-d887eaced75e 1d18702d-756c-4764-92d5-6ffbd598cc90 g.chr15:62258317G>A uc002agz.2 - 30 3090 c.3016C>T c.(3016-3018)CAA>TAA p.Q1006* VPS13C_uc002aha.2_Nonsense_Mutation_p.Q963*|VPS13C_uc002ahb.1_Nonsense_Mutation_p.Q1006*|VPS13C_uc002ahc.1_Nonsense_Mutation_p.Q963* NM_020821 NP_065872 Q709C8 VP13C_HUMAN vacuolar protein sorting 13C protein isoform 2A 1006 protein localization ovary(2) 2 AAAGCAGTTTGAAAACTAGGT 0.308 NA 14 22 0 0 0 0 TLN2 83660 broad.mit.edu 37 15 63017195 63017195 + Silent SNP G G C TCGA-CV-7414-01A-11D-2078-08 TCGA-CV-7414-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7137f980-5301-4b18-9664-d887eaced75e 1d18702d-756c-4764-92d5-6ffbd598cc90 g.chr15:63017195G>C uc002alb.3 + 24 3147 c.3147G>C c.(3145-3147)CCG>CCC p.P1049P NM_015059 NP_055874 Q9Y4G6 TLN2_HUMAN talin 2 1049 Ala-rich. cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane actin cytoskeleton|cytoplasm|focal adhesion|ruffle|synapse actin binding|insulin receptor binding|structural constituent of cytoskeleton ovary(5)|upper_aerodigestive_tract(2)|lung(2)|breast(2) 11 CTTGTGGTCCGATGGAAATCG 0.493 NA 16 24 0 0 0 0 DIS3L 115752 broad.mit.edu 37 15 66601162 66601162 + Missense_Mutation SNP G G T TCGA-CV-7414-01A-11D-2078-08 TCGA-CV-7414-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7137f980-5301-4b18-9664-d887eaced75e 1d18702d-756c-4764-92d5-6ffbd598cc90 g.chr15:66601162G>T uc010ujm.1 + 4 553 c.538G>T c.(538-540)GTA>TTA p.V180L DIS3L_uc010ujl.1_5'UTR|DIS3L_uc002app.2_Missense_Mutation_p.V97L|DIS3L_uc002apq.2_Missense_Mutation_p.V180L|DIS3L_uc010bho.2_Missense_Mutation_p.V46L NM_001143688 NP_001137160 Q8TF46 DI3L1_HUMAN DIS3 mitotic control homolog (S. 180 rRNA catabolic process cytoplasm|exosome (RNase complex) exonuclease activity|protein binding|ribonuclease activity|RNA binding ovary(2) 2 AACAGAAGGAGTATTCGTGAT 0.398 NA 33 58 1.84e-18 1.96e-18 1 0 LRRC49 54839 broad.mit.edu 37 15 71302304 71302304 + Silent SNP C C T TCGA-CV-7414-01A-11D-2078-08 TCGA-CV-7414-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7137f980-5301-4b18-9664-d887eaced75e 1d18702d-756c-4764-92d5-6ffbd598cc90 g.chr15:71302304C>T uc002asw.2 + 13 1813 c.1566C>T c.(1564-1566)TTC>TTT p.F522F LRRC49_uc002asu.2_Silent_p.F512F|LRRC49_uc002asx.2_Silent_p.F478F|LRRC49_uc010ukf.1_Silent_p.F527F|LRRC49_uc002asy.2_Silent_p.F228F|LRRC49_uc002asz.2_Silent_p.F494F NM_017691 NP_060161 Q8IUZ0 LRC49_HUMAN leucine rich repeat containing 49 522 cytoplasm|microtubule ovary(1) 1 TAAGCCATTTCAGTATGCAGA 0.318 NA 17 22 0 0 0 0 CCDC33 80125 broad.mit.edu 37 15 74536424 74536424 + Silent SNP C C T TCGA-CV-7414-01A-11D-2078-08 TCGA-CV-7414-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7137f980-5301-4b18-9664-d887eaced75e 1d18702d-756c-4764-92d5-6ffbd598cc90 g.chr15:74536424C>T uc002axo.2 + 2 514 c.120C>T c.(118-120)ACC>ACT p.T40T NM_025055 NP_079331 Q8N5R6 CCD33_HUMAN coiled-coil domain containing 33 isoform 1 243 C2. protein binding ovary(3)|skin(2) 5 TCATGGTCACCCTCCATGGGG 0.607 NA 20 31 0 0 0 0 MTHFS 10588 broad.mit.edu 37 15 80181621 80181621 + Missense_Mutation SNP C C G TCGA-CV-7414-01A-11D-2078-08 TCGA-CV-7414-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7137f980-5301-4b18-9664-d887eaced75e 1d18702d-756c-4764-92d5-6ffbd598cc90 g.chr15:80181621C>G uc002bex.3 - 2 233 c.193G>C c.(193-195)GAA>CAA p.E65Q NM_006441 NP_006432 P49914 MTHFS_HUMAN 5,10-methenyltetrahydrofolate synthetase 65 folic acid-containing compound biosynthetic process|formate metabolic process|tetrahydrofolate metabolic process cytosol|Golgi apparatus|plasma membrane 5-formyltetrahydrofolate cyclo-ligase activity|ATP binding|folic acid binding 0 all cancers(203;0.00467) ATGATCTCTTCTGTCTCAATT 0.408 NA 30 45 0 0 0 0 AGBL1 123624 broad.mit.edu 37 15 86697725 86697725 + Missense_Mutation SNP G G C TCGA-CV-7414-01A-11D-2078-08 TCGA-CV-7414-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7137f980-5301-4b18-9664-d887eaced75e 1d18702d-756c-4764-92d5-6ffbd598cc90 g.chr15:86697725G>C uc002blz.1 + 3 269 c.189G>C c.(187-189)AGG>AGC p.R63S NM_152336 NP_689549 Q96MI9 CBPC4_HUMAN ATP/GTP binding protein-like 1 63 C-terminal protein deglutamylation|protein side chain deglutamylation|proteolysis cytosol metallocarboxypeptidase activity|tubulin binding|zinc ion binding 0 TTCTGGCCAGGAAGAACCTAT 0.478 NA 7 15 0 0 0 0 BTBD12 84464 broad.mit.edu 37 16 3656527 3656527 + Silent SNP C C T TCGA-CV-7414-01A-11D-2078-08 TCGA-CV-7414-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7137f980-5301-4b18-9664-d887eaced75e 1d18702d-756c-4764-92d5-6ffbd598cc90 g.chr16:3656527C>T uc002cvp.2 - 3 1335 c.708G>A c.(706-708)GCG>GCA p.A236A BTBD12_uc002cvq.1_Silent_p.A236A NM_032444 NP_115820 Q8IY92 SLX4_HUMAN BTB (POZ) domain containing 12 236 Interaction with C20orf94, ERCC4 and MSH2. DNA double-strand break processing involved in repair via single-strand annealing|double-strand break repair via homologous recombination|nucleotide-excision repair Slx1-Slx4 complex enzyme activator activity|protein binding 0 TTTCTTCCCGCGCAGCCTCGA 0.512 NA Direct_reversal_of_damage|Homologous_recombination Fanconi_Anemia 69 122 0 0 0 0 DNAJA3 9093 broad.mit.edu 37 16 4491549 4491549 + Missense_Mutation SNP C C G rs141103865 TCGA-CV-7414-01A-11D-2078-08 TCGA-CV-7414-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7137f980-5301-4b18-9664-d887eaced75e 1d18702d-756c-4764-92d5-6ffbd598cc90 g.chr16:4491549C>G uc002cwk.2 + 4 628 c.603C>G c.(601-603)TTC>TTG p.F201L DNAJA3_uc002cwl.2_Missense_Mutation_p.F201L|DNAJA3_uc010uxk.1_Missense_Mutation_p.F48L NM_005147 NP_005138 Q96EY1 DNJA3_HUMAN DnaJ (Hsp40) homolog, subfamily A, member 3 201 activation of caspase activity|negative regulation of apoptosis|negative regulation of caspase activity|negative regulation of cell proliferation|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interferon-gamma-mediated signaling pathway|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein kinase activity|neuromuscular junction development|positive regulation of apoptosis|positive regulation of protein ubiquitination|protein folding|protein folding|protein stabilization|response to heat|response to interferon-gamma cytosol|mitochondrial matrix|mitochondrial nucleoid|nucleus ATP binding|heat shock protein binding|interferon-gamma receptor binding|metal ion binding|NF-kappaB binding|protein kinase binding ovary(2)|breast(2) 4 TTGGAGATTTCCAGACCGTGT 0.443 NA 14 40 0 0 0 0 NAGPA 51172 broad.mit.edu 37 16 5081854 5081854 + Missense_Mutation SNP C C T TCGA-CV-7414-01A-11D-2078-08 TCGA-CV-7414-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7137f980-5301-4b18-9664-d887eaced75e 1d18702d-756c-4764-92d5-6ffbd598cc90 g.chr16:5081854C>T uc002cyg.2 - 3 595 c.574G>A c.(574-576)GAG>AAG p.E192K ALG1_uc002cyj.2_5'Flank|NAGPA_uc010buc.2_5'Flank|NAGPA_uc002cyf.2_Missense_Mutation_p.E50K|NAGPA_uc002cyh.2_RNA|NAGPA_uc002cyi.2_Intron|NAGPA_uc010uxx.1_3'UTR NM_016256 NP_057340 Q9UK23 NAGPA_HUMAN N-acetylglucosamine-1-phosphodiester 192 Lumenal (Potential). carbohydrate metabolic process|lysosome organization|protein modification process|protein targeting to lysosome Golgi cisterna membrane|integral to membrane N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase activity 0 N-Acetyl-D-glucosamine(DB00141) AATGGGTTCTCAGTGTCCAGC 0.557 NA 8 93 0 0 0 0 RRN3 54700 broad.mit.edu 37 16 15180300 15180300 + Missense_Mutation SNP G G C TCGA-CV-7414-01A-11D-2078-08 TCGA-CV-7414-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7137f980-5301-4b18-9664-d887eaced75e 1d18702d-756c-4764-92d5-6ffbd598cc90 g.chr16:15180300G>C uc002dde.2 - 4 332 c.264C>G c.(262-264)ATC>ATG p.I88M PDXDC1_uc002ddc.2_Intron|RRN3_uc010uzp.1_Translation_Start_Site|RRN3_uc010uzq.1_Intron|RRN3_uc002ddf.1_Missense_Mutation_p.I88M NM_018427 NP_060897 Q9NYV6 RRN3_HUMAN RRN3 RNA polymerase I transcription factor 88 regulation of transcription, DNA-dependent|transcription initiation from RNA polymerase I promoter nucleolus|nucleoplasm ovary(1) 1 GCCAGTTGATGATCTGGTCAT 0.303 NA 4 73 0 0 0 0 SMG1 23049 broad.mit.edu 37 16 18887543 18887543 + Missense_Mutation SNP T T A TCGA-CV-7414-01A-11D-2078-08 TCGA-CV-7414-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7137f980-5301-4b18-9664-d887eaced75e 1d18702d-756c-4764-92d5-6ffbd598cc90 g.chr16:18887543T>A uc002dfm.2 - 13 2156 c.1793A>T c.(1792-1794)AAG>ATG p.K598M SMG1_uc010bwb.2_Missense_Mutation_p.K458M NM_015092 NP_055907 Q96Q15 SMG1_HUMAN PI-3-kinase-related kinase SMG-1 598 Interaction with SMG8 and SMG9. DNA repair|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|peptidyl-serine phosphorylation|phosphatidylinositol phosphorylation|protein autophosphorylation cytoplasm|nucleus ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity breast(5)|stomach(4)|lung(4)|kidney(2)|ovary(1) 16 CACATGATTCTTAAAAGCCTC 0.373 NA 28 62 0 0 0 0 C16orf62 57020 broad.mit.edu 37 16 19663399 19663399 + Missense_Mutation SNP G G T TCGA-CV-7414-01A-11D-2078-08 TCGA-CV-7414-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7137f980-5301-4b18-9664-d887eaced75e 1d18702d-756c-4764-92d5-6ffbd598cc90 g.chr16:19663399G>T uc002dgn.1 + 26 2220 c.2208G>T c.(2206-2208)CAG>CAT p.Q736H C16orf62_uc002dgo.1_Missense_Mutation_p.Q643H|C16orf62_uc002dgp.1_Missense_Mutation_p.Q485H NM_020314 NP_064710 Q7Z3J2 CP062_HUMAN hypothetical protein LOC57020 736 integral to membrane ovary(1) 1 TGGCCAACCAGTGCCTCTCCC 0.542 NA 7 6 5.18e-06 5.38e-06 1 0 USP31 57478 broad.mit.edu 37 16 23116857 23116857 + Missense_Mutation SNP G G C TCGA-CV-7414-01A-11D-2078-08 TCGA-CV-7414-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7137f980-5301-4b18-9664-d887eaced75e 1d18702d-756c-4764-92d5-6ffbd598cc90 g.chr16:23116857G>C uc002dll.2 - 5 994 c.994C>G c.(994-996)CAC>GAC p.H332D NM_020718 NP_065769 Q70CQ4 UBP31_HUMAN ubiquitin specific peptidase 31 332 ubiquitin-dependent protein catabolic process cysteine-type peptidase activity|ubiquitin thiolesterase activity ovary(3)|lung(3)|breast(2)|pancreas(1)|skin(1) 10 GBM - Glioblastoma multiforme(48;0.0187) CTCATGCAGTGAGAACATTTG 0.438 NA 10 33 0 0 0 0 COG7 91949 broad.mit.edu 37 16 23436072 23436072 + Missense_Mutation SNP A A T TCGA-CV-7414-01A-11D-2078-08 TCGA-CV-7414-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7137f980-5301-4b18-9664-d887eaced75e 1d18702d-756c-4764-92d5-6ffbd598cc90 g.chr16:23436072A>T uc002dlo.2 - 7 1195 c.1007T>A c.(1006-1008)CTA>CAA p.L336Q NM_153603 NP_705831 P83436 COG7_HUMAN component of oligomeric golgi complex 7 336 intracellular protein transport|protein glycosylation|protein localization in Golgi apparatus|protein stabilization|retrograde vesicle-mediated transport, Golgi to ER Golgi membrane|Golgi transport complex protein binding 0 GBM - Glioblastoma multiforme(48;0.0401) ATGTTTACGTAGGTGGGGGAG 0.557 NA 31 59 0 0 0 0 CORO1A 11151 broad.mit.edu 37 16 30199516 30199516 + Missense_Mutation SNP C C G TCGA-CV-7414-01A-11D-2078-08 TCGA-CV-7414-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7137f980-5301-4b18-9664-d887eaced75e 1d18702d-756c-4764-92d5-6ffbd598cc90 g.chr16:30199516C>G uc002dww.2 + 9 1133 c.1011C>G c.(1009-1011)TTC>TTG p.F337L uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|CORO1A_uc010bzq.2_Missense_Mutation_p.F337L|CORO1A_uc010bzr.2_Missense_Mutation_p.F337L|CORO1A_uc002dwx.2_Missense_Mutation_p.F231L|CORO1A_uc002dwy.1_3'UTR|LOC606724_uc002dwz.1_5'Flank NM_007074 NP_009005 P31146 COR1A_HUMAN coronin, actin binding protein, 1A 337 WD 7. cell-substrate adhesion|innate immune response|leukocyte chemotaxis|negative regulation of actin nucleation|phagolysosome assembly|positive chemotaxis|regulation of cell shape|uropod organization actin filament|cortical actin cytoskeleton|lamellipodium|phagocytic cup|phagocytic vesicle membrane actin filament binding|phosphatidylinositol 3-kinase binding|protein C-terminus binding|protein homodimerization activity 0 CCCACAGGTTCTACAAGCTGC 0.662 NA 3 39 0 0 0 0 ZNF423 23090 broad.mit.edu 37 16 49559375 49559375 + Missense_Mutation SNP C C T TCGA-CV-7414-01A-11D-2078-08 TCGA-CV-7414-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7137f980-5301-4b18-9664-d887eaced75e 1d18702d-756c-4764-92d5-6ffbd598cc90 g.chr16:49559375C>T uc002efs.2 - 7 3906 c.3608G>A c.(3607-3609)TGC>TAC p.C1203Y ZNF423_uc010vgn.1_Missense_Mutation_p.C1086Y NM_015069 NP_055884 Q2M1K9 ZN423_HUMAN zinc finger protein 423 1203 C2H2-type 28. cell differentiation|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus zinc ion binding ovary(1)|lung(1)|kidney(1)|pancreas(1) 4 all_cancers(37;0.0155) CATCTGGTTGCACAGCTTACA 0.572 NA 4 22 0 0 0 0 NUP93 9688 broad.mit.edu 37 16 56875739 56875739 + Silent SNP C C T TCGA-CV-7414-01A-11D-2078-08 TCGA-CV-7414-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7137f980-5301-4b18-9664-d887eaced75e 1d18702d-756c-4764-92d5-6ffbd598cc90 g.chr16:56875739C>T uc002eka.2 + 21 2464 c.2343C>T c.(2341-2343)CGC>CGT p.R781R NUP93_uc002ekb.2_Silent_p.R658R|NUP93_uc010vhi.1_Silent_p.R658R NM_014669 NP_055484 Q8N1F7 NUP93_HUMAN nucleoporin 93kDa 781 carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction nuclear pore protein binding ovary(1)|lung(1) 2 TCGAGGACCGCGACTCTGTAA 0.512 NA 21 10 0 0 0 0 CDH11 1009 broad.mit.edu 37 16 65032599 65032599 + Missense_Mutation SNP G G A TCGA-CV-7414-01A-11D-2078-08 TCGA-CV-7414-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7137f980-5301-4b18-9664-d887eaced75e 1d18702d-756c-4764-92d5-6ffbd598cc90 g.chr16:65032599G>A uc002eoi.2 - 4 823 c.389C>T c.(388-390)GCG>GTG p.A130V CDH11_uc010cdn.2_RNA|CDH11_uc002eoj.2_Missense_Mutation_p.A130V|CDH11_uc010vin.1_Missense_Mutation_p.A4V|CDH11_uc010vio.1_Missense_Mutation_p.A130V NM_001797 NP_001788 P55287 CAD11_HUMAN cadherin 11, type 2 preproprotein 130 Extracellular (Potential).|Cadherin 1. adherens junction organization|cell junction assembly|homophilic cell adhesion|ossification|skeletal system development integral to membrane|plasma membrane calcium ion binding|protein binding lung(10)|ovary(3)|skin(1) 14 Ovarian(137;0.0973) OV - Ovarian serous cystadenocarcinoma(108;0.205) CCTGTCCACCGCCTGAGCCAT 0.527 NA T USP6 aneurysmal bone cysts TSP Lung(24;0.17) 17 7 0 0 0 0 MYO1C 4641 broad.mit.edu 37 17 1373933 1373933 + Missense_Mutation SNP G G T TCGA-CV-7414-01A-11D-2078-08 TCGA-CV-7414-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7137f980-5301-4b18-9664-d887eaced75e 1d18702d-756c-4764-92d5-6ffbd598cc90 g.chr17:1373933G>T uc002fsp.2 - 22 2483 c.2263C>A c.(2263-2265)CTC>ATC p.L755I MYO1C_uc002fsn.2_Missense_Mutation_p.L736I|MYO1C_uc002fso.2_Missense_Mutation_p.L720I|MYO1C_uc010vqj.1_Missense_Mutation_p.L720I|MYO1C_uc010vqk.1_Missense_Mutation_p.L731I NM_001080779 NP_001074248 O00159 MYO1C_HUMAN myosin IC isoform a 755 IQ 1. mRNA transport|protein transport|transmembrane transport basal plasma membrane|cytoplasm|filamentous actin|lateral plasma membrane|nuclear pore|nucleolus|nucleoplasm|stereocilium membrane actin binding|ATP binding|calmodulin binding|motor activity 0 UCEC - Uterine corpus endometrioid carcinoma (25;0.0822) TTCACCCGGAGGAATTTCTGC 0.622 NA 10 21 0.000219431 0.000225544 1 0 ZZEF1 23140 broad.mit.edu 37 17 3928237 3928237 + Silent SNP C C T TCGA-CV-7414-01A-11D-2078-08 TCGA-CV-7414-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7137f980-5301-4b18-9664-d887eaced75e 1d18702d-756c-4764-92d5-6ffbd598cc90 g.chr17:3928237C>T uc002fxe.2 - 43 7132 c.7068G>A c.(7066-7068)CTG>CTA p.L2356L ZZEF1_uc002fxh.2_Silent_p.L670L|ZZEF1_uc002fxi.2_Silent_p.L591L NM_015113 NP_055928 O43149 ZZEF1_HUMAN zinc finger, ZZ type with EF hand domain 1 2356 calcium ion binding|zinc ion binding ovary(2)|central_nervous_system(1)|pancreas(1) 4 ACAATCCTTTCAGGGCCAGGG 0.493 NA 8 108 0 0 0 0 POLR2A 5430 broad.mit.edu 37 17 7404130 7404130 + Missense_Mutation SNP G G A TCGA-CV-7414-01A-11D-2078-08 TCGA-CV-7414-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7137f980-5301-4b18-9664-d887eaced75e 1d18702d-756c-4764-92d5-6ffbd598cc90 g.chr17:7404130G>A uc002ghf.3 + 11 2078 c.1844G>A c.(1843-1845)AGT>AAT p.S615N NM_000937 NP_000928 P24928 RPB1_HUMAN DNA-directed RNA polymerase II A 615 mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction DNA-directed RNA polymerase II, core complex DNA binding|DNA-directed RNA polymerase activity|metal ion binding|RNA-directed RNA polymerase activity|ubiquitin protein ligase binding pancreas(1) 1 Prostate(122;0.173) GATGAAGACAGTGGCCCTTAC 0.547 NA 98 7 0 0 0 0 TP53 7157 broad.mit.edu 37 17 7577085 7577085 + Missense_Mutation SNP C C T rs112431538 TCGA-CV-7414-01A-11D-2078-08 TCGA-CV-7414-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7137f980-5301-4b18-9664-d887eaced75e 1d18702d-756c-4764-92d5-6ffbd598cc90 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) 28 9 0 0 0 0 DNAH2 146754 broad.mit.edu 37 17 7735024 7735024 + Silent SNP C C G TCGA-CV-7414-01A-11D-2078-08 TCGA-CV-7414-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7137f980-5301-4b18-9664-d887eaced75e 1d18702d-756c-4764-92d5-6ffbd598cc90 g.chr17:7735024C>G uc002giu.1 + 81 12671 c.12657C>G c.(12655-12657)GTC>GTG p.V4219V DNAH2_uc010cnm.1_Silent_p.V1157V NM_020877 NP_065928 Q9P225 DYH2_HUMAN dynein heavy chain domain 3 4219 ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity ovary(6)|skin(6)|central_nervous_system(1) 13 all_cancers(10;4.66e-07)|Prostate(122;0.081) GTCTCATCGTCATGTCTACAA 0.488 NA 11 48 0 0 0 0 NCOR1 9611 broad.mit.edu 37 17 16024584 16024584 + Splice_Site SNP C C T TCGA-CV-7414-01A-11D-2078-08 TCGA-CV-7414-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7137f980-5301-4b18-9664-d887eaced75e 1d18702d-756c-4764-92d5-6ffbd598cc90 g.chr17:16024584C>T uc002gpo.2 - 16 1875 c.1635_splice c.e16-1 p.K545_splice NCOR1_uc002gpn.2_Splice_Site_p.K545_splice|NCOR1_uc002gpp.1_Splice_Site_p.K436_splice|NCOR1_uc002gpr.2_Splice_Site_p.K436_splice NM_006311 NP_006302 O75376 NCOR1_HUMAN nuclear receptor co-repressor 1 cellular lipid metabolic process|chromatin modification|negative regulation of JNK cascade|regulation of glycolysis by negative regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by negative regulation of transcription from an RNA polymerase II promoter|spindle assembly|transcription from RNA polymerase II promoter nuclear chromatin|spindle microtubule|transcriptional repressor complex histone deacetylase binding|transcription corepressor activity|transcription regulatory region DNA binding upper_aerodigestive_tract(2)|ovary(1)|central_nervous_system(1)|kidney(1) 5 UCEC - Uterine corpus endometrioid carcinoma (92;0.101) GGTATTTTCTCTGGACACAAA 0.383 NA 5 132 0 0 0 0 MYO15A 51168 broad.mit.edu 37 17 18023707 18023707 + Missense_Mutation SNP C C G TCGA-CV-7414-01A-11D-2078-08 TCGA-CV-7414-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7137f980-5301-4b18-9664-d887eaced75e 1d18702d-756c-4764-92d5-6ffbd598cc90 g.chr17:18023707C>G uc010vxh.1 + 2 1931 c.1593C>G c.(1591-1593)TTC>TTG p.F531L NM_016239 NP_057323 Q9UKN7 MYO15_HUMAN myosin XV 531 Myosin head-like. sensory perception of sound cytoplasm|myosin complex|stereocilium actin binding|ATP binding|calmodulin binding|motor activity skin(4)|ovary(2)|pancreas(1)|breast(1)|central_nervous_system(1) 9 all_neural(463;0.228) GCCACCCTTTCTGGGGCTTCC 0.706 NA 4 9 0 0 0 0 SHMT1 6470 broad.mit.edu 37 17 18238931 18238931 + Silent SNP A A C TCGA-CV-7414-01A-11D-2078-08 TCGA-CV-7414-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7137f980-5301-4b18-9664-d887eaced75e 1d18702d-756c-4764-92d5-6ffbd598cc90 g.chr17:18238931A>C uc002gta.2 - 8 1063 c.873T>G c.(871-873)CTT>CTG p.L291L SHMT1_uc002gsz.2_Silent_p.L66L|SHMT1_uc002gtb.2_Intron|SHMT1_uc010cqb.2_Silent_p.L291L|SHMT1_uc010vxt.1_Silent_p.L153L|SHMT1_uc002gtc.1_5'Flank|SHMT1_uc002gtd.1_Silent_p.L291L NM_004169 NP_004160 P34896 GLYC_HUMAN serine hydroxymethyltransferase 1 (soluble) 291 carnitine biosynthetic process|folic acid metabolic process|L-serine catabolic process|one-carbon metabolic process|purine base biosynthetic process cytosol|nucleus glycine hydroxymethyltransferase activity|protein homodimerization activity|pyridoxal phosphate binding ovary(1) 1 Glycine(DB00145)|Mimosine(DB01055)|Pyridoxal Phosphate(DB00114)|Tetrahydrofolic acid(DB00116) CAGAATTGATAAGAGACTCCA 0.502 NA 102 92 0 0 0 0 TRIM16L 147166 broad.mit.edu 37 17 18638380 18638380 + Missense_Mutation SNP G G T TCGA-CV-7414-01A-11D-2078-08 TCGA-CV-7414-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7137f980-5301-4b18-9664-d887eaced75e 1d18702d-756c-4764-92d5-6ffbd598cc90 g.chr17:18638380G>T uc002gug.1 + 10 1341 c.654G>T c.(652-654)GAG>GAT p.E218D TRIM16L_uc010vyf.1_Missense_Mutation_p.E272D|TRIM16L_uc002guh.1_Missense_Mutation_p.E218D|TRIM16L_uc010cqg.1_Missense_Mutation_p.E320D|TRIM16L_uc002gui.1_Missense_Mutation_p.E218D|TRIM16L_uc010vyg.1_Missense_Mutation_p.E218D|TRIM16L_uc010vyh.1_Missense_Mutation_p.R131I NM_001037330 NP_001032407 Q309B1 TR16L_HUMAN tripartite motif-containing 16-like 218 B30.2/SPRY. cytoplasm 0 TTGAGGTGGAGATCTTCGGGG 0.587 NA 42 2 1.42e-22 1.52e-22 1 0 ATAD5 79915 broad.mit.edu 37 17 29220591 29220591 + Missense_Mutation SNP G G C TCGA-CV-7414-01A-11D-2078-08 TCGA-CV-7414-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7137f980-5301-4b18-9664-d887eaced75e 1d18702d-756c-4764-92d5-6ffbd598cc90 g.chr17:29220591G>C uc002hfs.1 + 21 5066 c.4720G>C c.(4720-4722)GAT>CAT p.D1574H NM_024857 NP_079133 Q96QE3 ATAD5_HUMAN ATPase family, AAA domain containing 5 1574 response to DNA damage stimulus nucleus ATP binding|nucleoside-triphosphatase activity ovary(3) 3 all_hematologic(16;0.0202)|Acute lymphoblastic leukemia(14;0.0238)|Myeloproliferative disorder(56;0.0393) GGTAATATTAGATGATAGTGA 0.358 NA 11 46 0 0 0 0 ATAD5 79915 broad.mit.edu 37 17 29221718 29221718 + Missense_Mutation SNP G G C TCGA-CV-7414-01A-11D-2078-08 TCGA-CV-7414-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7137f980-5301-4b18-9664-d887eaced75e 1d18702d-756c-4764-92d5-6ffbd598cc90 g.chr17:29221718G>C uc002hfs.1 + 22 5780 c.5434G>C c.(5434-5436)GAA>CAA p.E1812Q NM_024857 NP_079133 Q96QE3 ATAD5_HUMAN ATPase family, AAA domain containing 5 1812 response to DNA damage stimulus nucleus ATP binding|nucleoside-triphosphatase activity ovary(3) 3 all_hematologic(16;0.0202)|Acute lymphoblastic leukemia(14;0.0238)|Myeloproliferative disorder(56;0.0393) GAAGCTAAAAGAACAAGGAAA 0.303 NA 7 36 0 0 0 0 FBXL20 84961 broad.mit.edu 37 17 37421664 37421664 + Nonsense_Mutation SNP G G A TCGA-CV-7414-01A-11D-2078-08 TCGA-CV-7414-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7137f980-5301-4b18-9664-d887eaced75e 1d18702d-756c-4764-92d5-6ffbd598cc90 g.chr17:37421664G>A uc010wed.1 - 13 1197 c.976C>T c.(976-978)CGA>TGA p.R326* FBXL20_uc002hrt.2_Nonsense_Mutation_p.R326*|FBXL20_uc010cvu.2_Nonsense_Mutation_p.R294* NM_032875 NP_116264 Q96IG2 FXL20_HUMAN F-box and leucine-rich repeat protein 20 326 LRR 10. cytoplasm ovary(1) 1 LUAD - Lung adenocarcinoma(14;0.146) ACTTGAAGTCGAGGACAGTGT 0.338 NA 16 101 0 0 0 0 MED1 5469 broad.mit.edu 37 17 37565028 37565028 + Missense_Mutation SNP G G A TCGA-CV-7414-01A-11D-2078-08 TCGA-CV-7414-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7137f980-5301-4b18-9664-d887eaced75e 1d18702d-756c-4764-92d5-6ffbd598cc90 g.chr17:37565028G>A uc002hrv.3 - 17 3658 c.3446C>T c.(3445-3447)TCT>TTT p.S1149F MED1_uc010wee.1_Missense_Mutation_p.S977F|MED1_uc002hru.2_Intron NM_004774 NP_004765 Q15648 MED1_HUMAN mediator complex subunit 1 1149 Ser-rich. androgen biosynthetic process|androgen receptor signaling pathway|cellular lipid metabolic process|fat cell differentiation|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription initiation from RNA polymerase II promoter mediator complex DNA binding|estrogen receptor binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|peroxisome proliferator activated receptor binding|receptor activity|retinoic acid receptor binding|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding lung(2)|ovary(2)|breast(1)|skin(1)|kidney(1)|pancreas(1) 8 Ovarian(249;1.78e-06)|Lung SC(565;0.0262) Lung(15;0.0178)|LUAD - Lung adenocarcinoma(14;0.146) UCEC - Uterine corpus endometrioid carcinoma (308;6.64e-05)|BRCA - Breast invasive adenocarcinoma(366;0.00136)|READ - Rectum adenocarcinoma(1115;0.0649) CTTCCCCCCAGACTGGGATGA 0.478 NA HNSCC(31;0.082) 9 74 0 0 0 0 MED1 5469 broad.mit.edu 37 17 37565889 37565889 + Missense_Mutation SNP C C T TCGA-CV-7414-01A-11D-2078-08 TCGA-CV-7414-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7137f980-5301-4b18-9664-d887eaced75e 1d18702d-756c-4764-92d5-6ffbd598cc90 g.chr17:37565889C>T uc002hrv.3 - 17 2797 c.2585G>A c.(2584-2586)GGA>GAA p.G862E MED1_uc010wee.1_Missense_Mutation_p.G690E|MED1_uc002hru.2_Intron NM_004774 NP_004765 Q15648 MED1_HUMAN mediator complex subunit 1 862 Interaction with ESR1. androgen biosynthetic process|androgen receptor signaling pathway|cellular lipid metabolic process|fat cell differentiation|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription initiation from RNA polymerase II promoter mediator complex DNA binding|estrogen receptor binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|peroxisome proliferator activated receptor binding|receptor activity|retinoic acid receptor binding|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding lung(2)|ovary(2)|breast(1)|skin(1)|kidney(1)|pancreas(1) 8 Ovarian(249;1.78e-06)|Lung SC(565;0.0262) Lung(15;0.0178)|LUAD - Lung adenocarcinoma(14;0.146) UCEC - Uterine corpus endometrioid carcinoma (308;6.64e-05)|BRCA - Breast invasive adenocarcinoma(366;0.00136)|READ - Rectum adenocarcinoma(1115;0.0649) GAAATCTACTCCATCATGAAA 0.388 NA HNSCC(31;0.082) 31 223 0 0 0 0 KRT26 353288 broad.mit.edu 37 17 38928008 38928008 + Missense_Mutation SNP C C G TCGA-CV-7414-01A-11D-2078-08 TCGA-CV-7414-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7137f980-5301-4b18-9664-d887eaced75e 1d18702d-756c-4764-92d5-6ffbd598cc90 g.chr17:38928008C>G uc002hvf.2 - 1 404 c.358G>C c.(358-360)GAG>CAG p.E120Q NM_181539 NP_853517 Q7Z3Y9 K1C26_HUMAN keratin 26 120 Rod.|Linker 1. intermediate filament structural molecule activity 0 Breast(137;0.00526) TCACATTTCTCGTACCAGCCC 0.498 NA 10 104 0 0 0 0 WNK4 65266 broad.mit.edu 37 17 40932738 40932738 + Missense_Mutation SNP G G C TCGA-CV-7414-01A-11D-2078-08 TCGA-CV-7414-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7137f980-5301-4b18-9664-d887eaced75e 1d18702d-756c-4764-92d5-6ffbd598cc90 g.chr17:40932738G>C uc002ibj.2 + 1 43 c.22G>C c.(22-24)GAG>CAG p.E8Q WNK4_uc010wgx.1_5'UTR|WNK4_uc002ibk.1_5'Flank NM_032387 NP_115763 Q96J92 WNK4_HUMAN WNK lysine deficient protein kinase 4 8 intracellular protein kinase cascade tight junction ATP binding|protein serine/threonine kinase activity ovary(3)|skin(3)|stomach(1) 7 Breast(137;0.000143) BRCA - Breast invasive adenocarcinoma(366;0.0749) CCCGGCCACGGAGACCACCGT 0.711 NA 9 6 0 0 0 0 CACNA1G 8913 broad.mit.edu 37 17 48678415 48678416 + Missense_Mutation DNP CC CC TT TCGA-CV-7414-01A-11D-2078-08 TCGA-CV-7414-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7137f980-5301-4b18-9664-d887eaced75e 1d18702d-756c-4764-92d5-6ffbd598cc90 g.chr17:48678415_48678416CC>TT uc002irk.1 + 19 4167_4168 c.3795_3796CC>TT c.(3793-3798)TTCCGC>TTTTGC p.R1266C CACNA1G_uc002iri.1_Missense_Mutation_p.R1266C|CACNA1G_uc002irj.1_Missense_Mutation_p.R1243C|CACNA1G_uc002irl.1_Missense_Mutation_p.R1243C|CACNA1G_uc002irm.1_Missense_Mutation_p.R1243C|CACNA1G_uc002irn.1_Missense_Mutation_p.R1243C|CACNA1G_uc002iro.1_Missense_Mutation_p.R1243C|CACNA1G_uc002irp.1_Missense_Mutation_p.R1266C|CACNA1G_uc002irq.1_Missense_Mutation_p.R1243C|CACNA1G_uc002irr.1_Missense_Mutation_p.R1266C|CACNA1G_uc002irs.1_Missense_Mutation_p.R1266C|CACNA1G_uc002irt.1_Missense_Mutation_p.R1266C|CACNA1G_uc002irv.1_Missense_Mutation_p.R1266C|CACNA1G_uc002irw.1_Missense_Mutation_p.R1243C|CACNA1G_uc002iru.1_Missense_Mutation_p.R1243C|CACNA1G_uc002irx.1_Missense_Mutation_p.R1179C|CACNA1G_uc002iry.1_Missense_Mutation_p.R1179C|CACNA1G_uc002irz.1_Missense_Mutation_p.R1179C|CACNA1G_uc002isa.1_Missense_Mutation_p.R1179C|CACNA1G_uc002isb.1_Missense_Mutation_p.R1179C|CACNA1G_uc002isc.1_Missense_Mutation_p.R1179C|CACNA1G_uc002isd.1_Missense_Mutation_p.R1179C|CACNA1G_uc002ise.1_Missense_Mutation_p.R1179C|CACNA1G_uc002isf.1_Missense_Mutation_p.R1179C|CACNA1G_uc002isg.1_Missense_Mutation_p.R1179C|CACNA1G_uc002ish.1_Missense_Mutation_p.R1179C|CACNA1G_uc002isi.1_Missense_Mutation_p.R1156C|CACNA1G_uc002isj.2_5'UTR NM_018896 NP_061496 O43497 CAC1G_HUMAN voltage-dependent calcium channel alpha 1G 1266 Cytoplasmic (Potential).|III. axon guidance voltage-gated calcium channel complex low voltage-gated calcium channel activity breast(1) 1 Breast(11;6.7e-17) BRCA - Breast invasive adenocarcinoma(22;7.52e-09) Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909) TGGGCAGGTTCCGCCTCCTGTG 0.639 NA 3 47 0 0 0 0 SPAG9 9043 broad.mit.edu 37 17 49057213 49057213 + Silent SNP G G C rs149696370 TCGA-CV-7414-01A-11D-2078-08 TCGA-CV-7414-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7137f980-5301-4b18-9664-d887eaced75e 1d18702d-756c-4764-92d5-6ffbd598cc90 g.chr17:49057213G>C uc002itc.2 - 26 3512 c.3303C>G c.(3301-3303)GGC>GGG p.G1101G SPAG9_uc002itb.2_Silent_p.G1087G|SPAG9_uc002itd.2_Silent_p.G1091G|SPAG9_uc002ita.2_Silent_p.G944G NM_001130528 NP_001124000 O60271 JIP4_HUMAN sperm associated antigen 9 isoform 1 1101 positive regulation of cell migration|positive regulation of muscle cell differentiation|retrograde transport, endosome to Golgi|spermatogenesis acrosomal vesicle|integral to membrane|perinuclear region of cytoplasm lung(4)|breast(1) 5 BRCA - Breast invasive adenocarcinoma(22;4.24e-07) AGACCCACACGCCATCCCCCA 0.473 NA 26 14 0 0 0 0 CSH2 1443 broad.mit.edu 37 17 61949939 61949939 + Missense_Mutation SNP C C A TCGA-CV-7414-01A-11D-2078-08 TCGA-CV-7414-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7137f980-5301-4b18-9664-d887eaced75e 1d18702d-756c-4764-92d5-6ffbd598cc90 g.chr17:61949939C>A uc002jch.2 - 4 569 c.454G>T c.(454-456)GGG>TGG p.G152W CSH2_uc002jcg.2_Intron|CSH2_uc002jci.2_Missense_Mutation_p.G152W|GH2_uc002jcj.2_Intron|CSH2_uc002jck.2_Missense_Mutation_p.G152W NM_020991 NP_066271 P01243 CSH_HUMAN chorionic somatomammotropin hormone 2 isoform 1 152 female pregnancy|signal transduction extracellular region hormone activity|metal ion binding 0 ACCCTCACCCCCATCAGCGTT 0.582 NA 14 84 8.6e-14 9.13e-14 1 0 PRKCA 5578 broad.mit.edu 37 17 64299066 64299066 + Missense_Mutation SNP G G C TCGA-CV-7414-01A-11D-2078-08 TCGA-CV-7414-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7137f980-5301-4b18-9664-d887eaced75e 1d18702d-756c-4764-92d5-6ffbd598cc90 g.chr17:64299066G>C uc002jfp.1 + 1 141 c.97G>C c.(97-99)GAG>CAG p.E33Q PRKCA_uc002jfo.1_5'UTR NM_002737 NP_002728 P17252 KPCA_HUMAN protein kinase C, alpha 33 activation of phospholipase C activity|energy reserve metabolic process|induction of apoptosis by extracellular signals|intracellular signal transduction|mRNA metabolic process|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of blood vessel endothelial cell migration|regulation of insulin secretion|response to interleukin-1|synaptic transmission cytosol|endoplasmic reticulum|membrane fraction|nucleoplasm|plasma membrane ATP binding|enzyme binding|histone kinase activity (H3-T6 specific)|protein kinase C activity|zinc ion binding central_nervous_system(4)|large_intestine(1)|stomach(1)|lung(1)|breast(1)|ovary(1) 9 BRCA - Breast invasive adenocarcinoma(6;4.68e-09) Phosphatidylserine(DB00144)|Vitamin E(DB00163) GAACGTGCACGAGGTGAAGGA 0.627 NA 21 40 0 0 0 0 HELZ 9931 broad.mit.edu 37 17 65119122 65119122 + Silent SNP G G C TCGA-CV-7414-01A-11D-2078-08 TCGA-CV-7414-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7137f980-5301-4b18-9664-d887eaced75e 1d18702d-756c-4764-92d5-6ffbd598cc90 g.chr17:65119122G>C uc010wqk.1 - 26 3784 c.3597C>G c.(3595-3597)GTC>GTG p.V1199V HELZ_uc002jfv.3_RNA|HELZ_uc002jfx.3_Silent_p.V1198V NM_014877 NP_055692 helicase with zinc finger domain ovary(1)|pancreas(1) 2 all_cancers(12;1.24e-11)|Breast(2;1.05e-17)|all_epithelial(3;3.87e-13) TCCCTCCATAGACAGCAGGTA 0.408 NA 9 86 0 0 0 0 QRICH2 84074 broad.mit.edu 37 17 74287156 74287156 + Missense_Mutation SNP C C G TCGA-CV-7414-01A-11D-2078-08 TCGA-CV-7414-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7137f980-5301-4b18-9664-d887eaced75e 1d18702d-756c-4764-92d5-6ffbd598cc90 g.chr17:74287156C>G uc002jrd.1 - 4 3334 c.3154G>C c.(3154-3156)GAT>CAT p.D1052H QRICH2_uc010wsz.1_Missense_Mutation_p.D978H|QRICH2_uc010dgw.1_Intron NM_032134 NP_115510 Q9H0J4 QRIC2_HUMAN glutamine rich 2 1052 protein binding ovary(1)|pancreas(1)|lung(1)|central_nervous_system(1)|skin(1) 5 TGCTCCTCATCCAGATCCTTC 0.527 NA 32 63 0 0 0 0 ENPP7 339221 broad.mit.edu 37 17 77710865 77710865 + Missense_Mutation SNP G G A TCGA-CV-7414-01A-11D-2078-08 TCGA-CV-7414-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7137f980-5301-4b18-9664-d887eaced75e 1d18702d-756c-4764-92d5-6ffbd598cc90 g.chr17:77710865G>A uc002jxa.2 + 4 1072 c.1052G>A c.(1051-1053)GGG>GAG p.G351E NM_178543 NP_848638 Q6UWV6 ENPP7_HUMAN ectonucleotide pyrophosphatase/phosphodiesterase 351 negative regulation of cell proliferation|negative regulation of DNA replication|sphingomyelin metabolic process Golgi apparatus|integral to membrane|microvillus sphingomyelin phosphodiesterase activity central_nervous_system(2)|ovary(1) 3 OV - Ovarian serous cystadenocarcinoma(97;0.016)|BRCA - Breast invasive adenocarcinoma(99;0.0224) TTCAACAATGGGGAGCACGGC 0.602 NA 28 6 0 0 0 0 RNF213 57674 broad.mit.edu 37 17 78321903 78321903 + Silent SNP G G A TCGA-CV-7414-01A-11D-2078-08 TCGA-CV-7414-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7137f980-5301-4b18-9664-d887eaced75e 1d18702d-756c-4764-92d5-6ffbd598cc90 g.chr17:78321903G>A uc002jyh.1 + 4 4210 c.3987G>A c.(3985-3987)TCG>TCA p.S1329S NM_020914 NP_065965 Q9HCF4 ALO17_HUMAN ring finger protein 213 Error:Variant_position_missing_in_Q9HCF4_after_alignment ovary(8)|lung(6)|breast(3)|large_intestine(2)|central_nervous_system(1)|pancreas(1) 21 all_neural(118;0.0538) BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057) AGGCCAAATCGATCCTGCTGA 0.642 NA 37 6 0 0 0 0 ZNF750 79755 broad.mit.edu 37 17 80789425 80789425 + Nonsense_Mutation SNP G G C TCGA-CV-7414-01A-11D-2078-08 TCGA-CV-7414-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7137f980-5301-4b18-9664-d887eaced75e 1d18702d-756c-4764-92d5-6ffbd598cc90 g.chr17:80789425G>C uc002kga.2 - 2 1217 c.906C>G c.(904-906)TAC>TAG p.Y302* TBCD_uc002kfx.1_Intron|TBCD_uc002kfy.1_Intron|TBCD_uc002kfz.2_Intron NM_024702 NP_078978 Q32MQ0 ZN750_HUMAN zinc finger protein 750 302 intracellular zinc ion binding central_nervous_system(1) 1 Breast(20;0.000523)|all_neural(118;0.0779) all_cancers(8;0.0514)|all_epithelial(8;0.0748) OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.149) TGTAGTGATCGTATGTGGCTG 0.547 NA 115 31 0 0 0 0 COLEC12 81035 broad.mit.edu 37 18 346848 346848 + Silent SNP C C T TCGA-CV-7414-01A-11D-2078-08 TCGA-CV-7414-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7137f980-5301-4b18-9664-d887eaced75e 1d18702d-756c-4764-92d5-6ffbd598cc90 g.chr18:346848C>T uc002kkm.2 - 5 989 c.774G>A c.(772-774)CTG>CTA p.L258L NM_130386 NP_569057 Q5KU26 COL12_HUMAN collectin sub-family member 12 258 Potential.|Extracellular (Potential). carbohydrate mediated signaling|innate immune response|phagocytosis, recognition|protein homooligomerization collagen|integral to membrane galactose binding|low-density lipoprotein particle binding|metal ion binding|pattern recognition receptor activity|scavenger receptor activity ovary(1)|pancreas(1) 2 all_cancers(4;0.0442)|Myeloproliferative disorder(11;0.0426) CTTTCTCCTTCAGCCAATCCG 0.512 NA 9 30 0 0 0 0 CTAGE1 64693 broad.mit.edu 37 18 19995601 19995601 + Missense_Mutation SNP G G T TCGA-CV-7414-01A-11D-2078-08 TCGA-CV-7414-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7137f980-5301-4b18-9664-d887eaced75e 1d18702d-756c-4764-92d5-6ffbd598cc90 g.chr18:19995601G>T uc002ktv.1 - 1 2278 c.2174C>A c.(2173-2175)CCG>CAG p.P725Q NM_172241 NP_758441 Q96RT6 CTGE2_HUMAN cutaneous T-cell lymphoma-associated antigen 1 725 Pro-rich. integral to membrane ovary(1) 1 all_cancers(21;0.000361)|all_epithelial(16;9.61e-06)|Colorectal(14;0.0533)|Lung NSC(20;0.0605)|Ovarian(2;0.116)|all_lung(20;0.135) AAAACCTCTCGGTAAATAGAC 0.498 NA 22 26 5.26e-13 5.57e-13 1 0 KIAA1012 22878 broad.mit.edu 37 18 29437875 29437875 + Missense_Mutation SNP T T C TCGA-CV-7414-01A-11D-2078-08 TCGA-CV-7414-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7137f980-5301-4b18-9664-d887eaced75e 1d18702d-756c-4764-92d5-6ffbd598cc90 g.chr18:29437875T>C uc002kxc.3 - 20 3180 c.2816A>G c.(2815-2817)AAT>AGT p.N939S KIAA1012_uc002kxb.3_Missense_Mutation_p.N885S|KIAA1012_uc002kxd.3_Intron NM_014939 NP_055754 Q9Y2L5 TPPC8_HUMAN hypothetical protein LOC22878 939 ER to Golgi vesicle-mediated transport cis-Golgi network 0 TTTGCTGACATTGACAAATTC 0.378 NA 58 98 0 0 0 0 SETBP1 26040 broad.mit.edu 37 18 42532870 42532870 + Missense_Mutation SNP C C T TCGA-CV-7414-01A-11D-2078-08 TCGA-CV-7414-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7137f980-5301-4b18-9664-d887eaced75e 1d18702d-756c-4764-92d5-6ffbd598cc90 g.chr18:42532870C>T uc010dni.2 + 4 3861 c.3565C>T c.(3565-3567)CGG>TGG p.R1189W NM_015559 NP_056374 Q9Y6X0 SETBP_HUMAN SET binding protein 1 isoform a 1189 nucleus DNA binding upper_aerodigestive_tract(2)|large_intestine(1) 3 Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201) CCTGAGCGAGCGGCTGAGTAG 0.552 NA Schinzel-Giedion_syndrome 3 43 0 0 0 0 CDH7 1005 broad.mit.edu 37 18 63489364 63489364 + Missense_Mutation SNP C C A TCGA-CV-7414-01A-11D-2078-08 TCGA-CV-7414-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7137f980-5301-4b18-9664-d887eaced75e 1d18702d-756c-4764-92d5-6ffbd598cc90 g.chr18:63489364C>A uc002ljz.2 + 5 998 c.673C>A c.(673-675)CAG>AAG p.Q225K CDH7_uc002lka.2_Missense_Mutation_p.Q225K|CDH7_uc002lkb.2_Missense_Mutation_p.Q225K NM_033646 NP_387450 Q9ULB5 CADH7_HUMAN cadherin 7, type 2 preproprotein 225 Extracellular (Potential).|Cadherin 2. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(2)|pancreas(1)|skin(1) 4 Esophageal squamous(42;0.129) GGCTAAAGACCAGTATTTGCT 0.403 NA 18 34 5.35e-07 5.59e-07 1 0 CTDP1 9150 broad.mit.edu 37 18 77513778 77513778 + Silent SNP C C T TCGA-CV-7414-01A-11D-2078-08 TCGA-CV-7414-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7137f980-5301-4b18-9664-d887eaced75e 1d18702d-756c-4764-92d5-6ffbd598cc90 g.chr18:77513778C>T uc002lnh.1 + 13 3021 c.2874C>T c.(2872-2874)AAC>AAT p.N958N CTDP1_uc002lni.1_3'UTR|CTDP1_uc010drd.1_3'UTR NM_004715 NP_004706 Q9Y5B0 CTDP1_HUMAN CTD (carboxy-terminal domain, RNA polymerase II, 958 positive regulation of viral transcription|protein dephosphorylation|transcription elongation from RNA polymerase II promoter|viral reproduction nucleoplasm CTD phosphatase activity|DNA-directed RNA polymerase activity 0 Esophageal squamous(42;0.0157)|Melanoma(33;0.144) OV - Ovarian serous cystadenocarcinoma(15;5.2e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0277) CGGAGCTCAACGACCTCATGT 0.687 NA 9 13 0 0 0 0 APC2 10297 broad.mit.edu 37 19 1462153 1462153 + Silent SNP C C T TCGA-CV-7414-01A-11D-2078-08 TCGA-CV-7414-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7137f980-5301-4b18-9664-d887eaced75e 1d18702d-756c-4764-92d5-6ffbd598cc90 g.chr19:1462153C>T uc002lsr.1 + 14 2038 c.1830C>T c.(1828-1830)CTC>CTT p.L610L APC2_uc002lss.1_Silent_p.L192L|APC2_uc002lst.1_Silent_p.L610L|APC2_uc002lsu.1_Silent_p.L609L|C19orf25_uc010xgn.1_Intron NM_005883 NP_005874 O95996 APC2_HUMAN adenomatosis polyposis coli 2 610 negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|Wnt receptor signaling pathway actin filament|catenin complex|cytoplasmic microtubule|Golgi membrane|lamellipodium membrane|perinuclear region of cytoplasm beta-catenin binding|microtubule binding breast(3)|pancreas(1) 4 Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) TGTCCAGCCTCGTCGCCACCC 0.692 NA 4 5 0 0 0 0 ADAMTSL5 339366 broad.mit.edu 37 19 1510410 1510410 + Missense_Mutation SNP G G C rs149832091 TCGA-CV-7414-01A-11D-2078-08 TCGA-CV-7414-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7137f980-5301-4b18-9664-d887eaced75e 1d18702d-756c-4764-92d5-6ffbd598cc90 g.chr19:1510410G>C uc002ltd.2 - 4 653 c.209C>G c.(208-210)CCG>CGG p.P70R ADAMTSL5_uc010dsl.2_5'UTR|ADAMTSL5_uc010xgq.1_Missense_Mutation_p.P80R NM_213604 NP_998769 Q6ZMM2 ATL5_HUMAN ADAMTS-like 5 precursor 70 TSP type-1. proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding 0 Acute lymphoblastic leukemia(61;5.61e-13)|all_hematologic(61;2.65e-08) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) TCCCCAGCACGGTTCTTCCCC 0.672 NA 4 12 0 0 0 0 S1PR4 8698 broad.mit.edu 37 19 3179237 3179237 + Silent SNP G G A TCGA-CV-7414-01A-11D-2078-08 TCGA-CV-7414-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7137f980-5301-4b18-9664-d887eaced75e 1d18702d-756c-4764-92d5-6ffbd598cc90 g.chr19:3179237G>A uc002lxg.2 + 1 472 c.447G>A c.(445-447)CGG>CGA p.R149R NM_003775 NP_003766 O95977 S1PR4_HUMAN sphingosine-1-phosphate receptor 4 precursor 149 Cytoplasmic (By similarity). activation of phospholipase C activity|elevation of cytosolic calcium ion concentration|immune response integral to plasma membrane lipid binding|lysosphingolipid and lysophosphatidic acid receptor activity lung(1)|skin(1) 2 CCATGGTGCGGCCGGTGGCCG 0.692 NA 4 66 0 0 0 0 PLIN3 10226 broad.mit.edu 37 19 4859609 4859609 + Missense_Mutation SNP G G A TCGA-CV-7414-01A-11D-2078-08 TCGA-CV-7414-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7137f980-5301-4b18-9664-d887eaced75e 1d18702d-756c-4764-92d5-6ffbd598cc90 g.chr19:4859609G>A uc002mbj.2 - 4 518 c.341C>T c.(340-342)ACG>ATG p.T114M PLIN3_uc002mbk.2_Missense_Mutation_p.T114M|PLIN3_uc002mbl.3_Missense_Mutation_p.T114M NM_005817 NP_005808 O60664 PLIN3_HUMAN mannose 6 phosphate receptor binding protein 1 114 vesicle-mediated transport endosome membrane|Golgi apparatus|lipid particle protein binding 0 Galsulfase(DB01279)|Idursulfase(DB01271) TACCTTCTCCGTGGGCTGCTG 0.572 NA 21 29 0 0 0 0 MUC16 94025 broad.mit.edu 37 19 9085082 9085082 + Missense_Mutation SNP C C T TCGA-CV-7414-01A-11D-2078-08 TCGA-CV-7414-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7137f980-5301-4b18-9664-d887eaced75e 1d18702d-756c-4764-92d5-6ffbd598cc90 g.chr19:9085082C>T uc002mkp.2 - 1 6937 c.6733G>A c.(6733-6735)GAG>AAG p.E2245K NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 2245 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 GGAATACTCTCAGCCCCATCT 0.448 NA 11 19 0 0 0 0 ZNF699 374879 broad.mit.edu 37 19 9407596 9407596 + Missense_Mutation SNP C C G TCGA-CV-7414-01A-11D-2078-08 TCGA-CV-7414-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7137f980-5301-4b18-9664-d887eaced75e 1d18702d-756c-4764-92d5-6ffbd598cc90 g.chr19:9407596C>G uc002mlc.1 - 5 484 c.484G>C c.(484-486)GAG>CAG p.E162Q NM_198535 NP_940937 Q32M78 ZN699_HUMAN zinc finger protein 699 162 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 TAGATGTTCTCTACCATATGA 0.299 NA 5 18 0 0 0 0 MAN2B1 4125 broad.mit.edu 37 19 12776599 12776599 + Silent SNP C C T TCGA-CV-7414-01A-11D-2078-08 TCGA-CV-7414-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7137f980-5301-4b18-9664-d887eaced75e 1d18702d-756c-4764-92d5-6ffbd598cc90 g.chr19:12776599C>T uc002mub.2 - 2 256 c.180G>A c.(178-180)CCG>CCA p.P60P MAN2B1_uc010dyv.1_Silent_p.P60P|WDR83_uc002mue.3_5'Flank|WDR83_uc002muc.2_5'Flank NM_000528 NP_000519 O00754 MA2B1_HUMAN mannosidase, alpha, class 2B, member 1 60 protein deglycosylation lysosome alpha-mannosidase activity|zinc ion binding ovary(4)|central_nervous_system(2) 6 TCAGCATGTTCGGCTGCACTG 0.547 NA 15 33 0 0 0 0 DHPS 1725 broad.mit.edu 37 19 12790281 12790281 + Nonsense_Mutation SNP C C T TCGA-CV-7414-01A-11D-2078-08 TCGA-CV-7414-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7137f980-5301-4b18-9664-d887eaced75e 1d18702d-756c-4764-92d5-6ffbd598cc90 g.chr19:12790281C>T uc002muh.1 - 5 765 c.668G>A c.(667-669)TGG>TAG p.W223* DHPS_uc002muf.1_Nonsense_Mutation_p.W100*|DHPS_uc002mug.1_Nonsense_Mutation_p.W181*|DHPS_uc002mui.1_Nonsense_Mutation_p.W223*|DHPS_uc002muj.1_Nonsense_Mutation_p.W223*|DHPS_uc002muk.1_RNA|DHPS_uc010xmn.1_RNA NM_001930 NP_001921 P49366 DHYS_HUMAN deoxyhypusine synthase isoform a 223 peptidyl-lysine modification to hypusine|positive regulation of cell proliferation|post-translational protein modification|spermidine catabolic process to deoxyhypusine, using deoxyhypusine synthase|translation cytosol deoxyhypusine synthase activity|protein binding central_nervous_system(1) 1 Sulfadoxine(DB01299) CTTCTGGGCCCAGTAATACAC 0.398 NA 72 98 0 0 0 0 CC2D1A 54862 broad.mit.edu 37 19 14038078 14038078 + Missense_Mutation SNP G G T TCGA-CV-7414-01A-11D-2078-08 TCGA-CV-7414-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7137f980-5301-4b18-9664-d887eaced75e 1d18702d-756c-4764-92d5-6ffbd598cc90 g.chr19:14038078G>T uc002mxo.2 + 22 2615 c.2316G>T c.(2314-2316)GAG>GAT p.E772D CC2D1A_uc002mxp.2_Missense_Mutation_p.E772D|CC2D1A_uc010dzh.2_Missense_Mutation_p.E341D|CC2D1A_uc002mxq.1_3'UTR NM_017721 NP_060191 Q6P1N0 C2D1A_HUMAN coiled-coil and C2 domain containing 1A 772 positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleolus|plasma membrane DNA binding|signal transducer activity 0 OV - Ovarian serous cystadenocarcinoma(19;3.49e-23) AGATCCTTGAGGTGAGAGGTG 0.547 NA 3 48 6.4e-05 6.61e-05 1 0 TSSK6 83983 broad.mit.edu 37 19 19626011 19626011 + Missense_Mutation SNP A A G TCGA-CV-7414-01A-11D-2078-08 TCGA-CV-7414-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7137f980-5301-4b18-9664-d887eaced75e 1d18702d-756c-4764-92d5-6ffbd598cc90 g.chr19:19626011A>G uc002nmr.2 - 1 459 c.226T>C c.(226-228)TTC>CTC p.F76L TSSK6_uc002nmq.2_RNA|NDUFA13_uc002nms.2_5'Flank|NDUFA13_uc010xqx.1_5'Flank|NDUFA13_uc010xqy.1_5'Flank NM_032037 NP_114426 Q9BXA6 TSSK6_HUMAN testis-specific serine kinase 6 76 Protein kinase. multicellular organismal development|sperm chromatin condensation ATP binding|magnesium ion binding|protein serine/threonine kinase activity stomach(1) 1 ATGAACTCGAAGACGTGCACG 0.667 NA 11 26 0 0 0 0 ZNF91 7644 broad.mit.edu 37 19 23544721 23544721 + Missense_Mutation SNP C C G TCGA-CV-7414-01A-11D-2078-08 TCGA-CV-7414-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7137f980-5301-4b18-9664-d887eaced75e 1d18702d-756c-4764-92d5-6ffbd598cc90 g.chr19:23544721C>G uc002nre.2 - 4 1173 c.1060G>C c.(1060-1062)GAA>CAA p.E354Q ZNF91_uc010xrj.1_Missense_Mutation_p.E322Q NM_003430 NP_003421 Q05481 ZNF91_HUMAN zinc finger protein 91 354 C2H2-type 8. nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding 0 all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611) TTGCCACATTCTTTACATTTG 0.368 NA 14 32 0 0 0 0 ZNF536 9745 broad.mit.edu 37 19 30935350 30935350 + Missense_Mutation SNP G G A TCGA-CV-7414-01A-11D-2078-08 TCGA-CV-7414-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7137f980-5301-4b18-9664-d887eaced75e 1d18702d-756c-4764-92d5-6ffbd598cc90 g.chr19:30935350G>A uc002nsu.1 + 2 1019 c.881G>A c.(880-882)CGC>CAC p.R294H ZNF536_uc010edd.1_Missense_Mutation_p.R294H NM_014717 NP_055532 O15090 ZN536_HUMAN zinc finger protein 536 294 C2H2-type 3. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus zinc ion binding ovary(7)|large_intestine(2)|skin(2) 11 Esophageal squamous(110;0.0834) CGCCACATCCGCATCTTGCAC 0.647 NA 33 45 0 0 0 0 FCGBP 8857 broad.mit.edu 37 19 40363228 40363228 + Missense_Mutation SNP C C T TCGA-CV-7414-01A-11D-2078-08 TCGA-CV-7414-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7137f980-5301-4b18-9664-d887eaced75e 1d18702d-756c-4764-92d5-6ffbd598cc90 g.chr19:40363228C>T uc002omp.3 - 32 14850 c.14842G>A c.(14842-14844)GAG>AAG p.E4948K NM_003890 NP_003881 Q9Y6R7 FCGBP_HUMAN Fc fragment of IgG binding protein precursor 4948 VWFD 12. extracellular region protein binding ovary(4)|skin(4)|central_nervous_system(1) 9 all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06) Epithelial(26;6.25e-23)|all cancers(26;1.13e-20) TTTCGGCCCTCGGCGGTCACC 0.662 NA 10 13 0 0 0 0 ZNF226 7769 broad.mit.edu 37 19 44680376 44680376 + Missense_Mutation SNP C C T TCGA-CV-7414-01A-11D-2078-08 TCGA-CV-7414-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7137f980-5301-4b18-9664-d887eaced75e 1d18702d-756c-4764-92d5-6ffbd598cc90 g.chr19:44680376C>T uc002oyp.2 + 6 1105 c.961C>T c.(961-963)CAT>TAT p.H321Y ZNF226_uc002oyq.2_Missense_Mutation_p.H204Y|ZNF226_uc002oyr.2_Missense_Mutation_p.H204Y|ZNF226_uc010ejg.2_3'UTR|ZNF226_uc002oys.2_Missense_Mutation_p.H321Y|ZNF226_uc002oyt.2_Missense_Mutation_p.H321Y NM_001032373 NP_001027545 Q9NYT6 ZN226_HUMAN zinc finger protein 226 isoform a 321 C2H2-type 3. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 Prostate(69;0.0352)|all_neural(266;0.202) TCAGGGCGCTCATCTACAGAC 0.428 NA 5 38 0 0 0 0 ZNF320 162967 broad.mit.edu 37 19 53385154 53385154 + Silent SNP C C T TCGA-CV-7414-01A-11D-2078-08 TCGA-CV-7414-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7137f980-5301-4b18-9664-d887eaced75e 1d18702d-756c-4764-92d5-6ffbd598cc90 g.chr19:53385154C>T uc002qag.2 - 4 416 c.225G>A c.(223-225)CAG>CAA p.Q75Q ZNF320_uc010eqh.1_5'Flank|ZNF320_uc010eqi.1_Intron|ZNF320_uc002qah.2_Silent_p.Q21Q|ZNF320_uc002qai.2_Silent_p.Q75Q NM_207333 NP_997216 A2RRD8 ZN320_HUMAN zinc finger protein 320 75 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 GBM - Glioblastoma multiforme(134;0.0534) TTGCTTGTCTCTGCAATGTCC 0.393 NA 11 149 0 0 0 0 ZNF347 84671 broad.mit.edu 37 19 53652521 53652521 + Missense_Mutation SNP C C G TCGA-CV-7414-01A-11D-2078-08 TCGA-CV-7414-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7137f980-5301-4b18-9664-d887eaced75e 1d18702d-756c-4764-92d5-6ffbd598cc90 g.chr19:53652521C>G uc002qbb.1 - 3 184 c.115G>C c.(115-117)GAG>CAG p.E39Q ZNF347_uc010eql.1_Missense_Mutation_p.E39Q|ZNF347_uc002qbc.1_Missense_Mutation_p.E39Q NM_032584 NP_115973 Q96SE7 ZN347_HUMAN zinc finger protein 347 39 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 GBM - Glioblastoma multiforme(134;0.0179) CTATAATTCTCCAACATCACG 0.517 NA 41 71 0 0 0 0 NLRP7 199713 broad.mit.edu 37 19 55451377 55451377 + Silent SNP G G A TCGA-CV-7414-01A-11D-2078-08 TCGA-CV-7414-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7137f980-5301-4b18-9664-d887eaced75e 1d18702d-756c-4764-92d5-6ffbd598cc90 g.chr19:55451377G>A uc002qih.3 - 4 886 c.810C>T c.(808-810)TGC>TGT p.C270C NLRP7_uc002qig.3_Silent_p.C270C|NLRP7_uc002qii.3_Silent_p.C270C|NLRP7_uc010esk.2_Silent_p.C270C|NLRP7_uc010esl.2_Silent_p.C298C NM_206828 NP_996611 Q8WX94 NALP7_HUMAN NACHT, leucine rich repeat and PYD containing 7 270 NACHT. ATP binding large_intestine(1)|breast(1)|central_nervous_system(1) 3 GBM - Glioblastoma multiforme(193;0.0325) CCCAGTCCCCGCAGATGTCCT 0.592 NA 28 38 0 0 0 0 U2AF2 11338 broad.mit.edu 37 19 56166482 56166482 + Silent SNP C C T TCGA-CV-7414-01A-11D-2078-08 TCGA-CV-7414-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7137f980-5301-4b18-9664-d887eaced75e 1d18702d-756c-4764-92d5-6ffbd598cc90 g.chr19:56166482C>T uc002qlu.2 + 1 1067 c.12C>T c.(10-12)TTC>TTT p.F4F U2AF2_uc002qlt.2_Silent_p.F4F NM_007279 NP_009210 P26368 U2AF2_HUMAN U2 (RNU2) small nuclear RNA auxiliary factor 2 4 mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription nucleoplasm|spliceosomal complex enzyme binding|nucleotide binding|RNA binding ovary(1) 1 Colorectal(82;0.00244)|Ovarian(87;0.133) BRCA - Breast invasive adenocarcinoma(297;0.18) GBM - Glioblastoma multiforme(193;0.107) TGTCGGACTTCGACGAGTTCG 0.692 NA 6 15 0 0 0 0 SNTG2 54221 broad.mit.edu 37 2 1251141 1251141 + Missense_Mutation SNP G G A TCGA-CV-7414-01A-11D-2078-08 TCGA-CV-7414-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7137f980-5301-4b18-9664-d887eaced75e 1d18702d-756c-4764-92d5-6ffbd598cc90 g.chr2:1251141G>A uc002qwq.2 + 12 1059 c.931G>A c.(931-933)GAC>AAC p.D311N SNTG2_uc010ewi.2_Missense_Mutation_p.D184N NM_018968 NP_061841 Q9NY99 SNTG2_HUMAN syntrophin, gamma 2 311 PH. central nervous system development cytoplasm|cytoskeleton|sarcolemma|syntrophin complex actin binding|PDZ domain binding ovary(1)|large_intestine(1)|breast(1) 3 Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797) all_cancers(51;0.00469) all cancers(51;0.0178)|OV - Ovarian serous cystadenocarcinoma(76;0.07)|Epithelial(75;0.0864)|GBM - Glioblastoma multiforme(21;0.173) CCAAGGAGCTGACTCCTCTCA 0.502 NA 11 22 0 0 0 0 GREB1 9687 broad.mit.edu 37 2 11733135 11733135 + Missense_Mutation SNP G G A TCGA-CV-7414-01A-11D-2078-08 TCGA-CV-7414-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7137f980-5301-4b18-9664-d887eaced75e 1d18702d-756c-4764-92d5-6ffbd598cc90 g.chr2:11733135G>A uc002rbk.1 + 11 1879 c.1579G>A c.(1579-1581)GAG>AAG p.E527K GREB1_uc002rbo.1_Missense_Mutation_p.E161K NM_014668 NP_055483 Q4ZG55 GREB1_HUMAN growth regulation by estrogen in breast cancer 1 527 integral to membrane ovary(1) 1 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186) CTCCCTGGCCGAGGGCCTCTC 0.667 NA 3 11 0 0 0 0 ITSN2 50618 broad.mit.edu 37 2 24480764 24480764 + Missense_Mutation SNP G G A TCGA-CV-7414-01A-11D-2078-08 TCGA-CV-7414-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7137f980-5301-4b18-9664-d887eaced75e 1d18702d-756c-4764-92d5-6ffbd598cc90 g.chr2:24480764G>A uc002rfe.2 - 23 3139 c.2881C>T c.(2881-2883)CGG>TGG p.R961W ITSN2_uc002rff.2_Missense_Mutation_p.R934W|ITSN2_uc002rfg.2_Missense_Mutation_p.R961W|ITSN2_uc002rfh.1_RNA NM_006277 NP_006268 Q9NZM3 ITSN2_HUMAN intersectin 2 isoform 1 961 endocytosis|regulation of Rho protein signal transduction cytoplasm calcium ion binding|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity kidney(2)|ovary(1)|central_nervous_system(1) 4 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) TACTCTTCCCGTTTTACTTCA 0.403 NA 27 43 0 0 0 0 ITSN2 50618 broad.mit.edu 37 2 24494796 24494796 + Missense_Mutation SNP C C A TCGA-CV-7414-01A-11D-2078-08 TCGA-CV-7414-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7137f980-5301-4b18-9664-d887eaced75e 1d18702d-756c-4764-92d5-6ffbd598cc90 g.chr2:24494796C>A uc002rfe.2 - 19 2354 c.2096G>T c.(2095-2097)GGA>GTA p.G699V ITSN2_uc002rff.2_Missense_Mutation_p.G672V|ITSN2_uc002rfg.2_Missense_Mutation_p.G699V NM_006277 NP_006268 Q9NZM3 ITSN2_HUMAN intersectin 2 isoform 1 699 Potential. endocytosis|regulation of Rho protein signal transduction cytoplasm calcium ion binding|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity kidney(2)|ovary(1)|central_nervous_system(1) 4 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) gttttcttttccttgctttgc 0.104 NA 16 5 1.36e-06 1.42e-06 1 0 PLB1 151056 broad.mit.edu 37 2 28812554 28812554 + Missense_Mutation SNP G G A TCGA-CV-7414-01A-11D-2078-08 TCGA-CV-7414-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7137f980-5301-4b18-9664-d887eaced75e 1d18702d-756c-4764-92d5-6ffbd598cc90 g.chr2:28812554G>A uc002rmb.1 + 28 1933 c.1933G>A c.(1933-1935)GAC>AAC p.D645N PLB1_uc010ezj.1_Missense_Mutation_p.D634N|PLB1_uc002rmc.2_Missense_Mutation_p.D333N|PLB1_uc002rmd.1_Missense_Mutation_p.D155N NM_153021 NP_694566 Q6P1J6 PLB1_HUMAN phospholipase B1 precursor 645 4 X 308-326 AA approximate repeats.|2.|Extracellular (Potential). lipid catabolic process|retinoid metabolic process|steroid metabolic process apical plasma membrane|integral to membrane lysophospholipase activity|phospholipase A2 activity|retinyl-palmitate esterase activity ovary(4)|large_intestine(2)|skin(2)|breast(1) 9 Acute lymphoblastic leukemia(172;0.155) AGGATTGCCTGACAACTCTTT 0.498 NA 7 72 0 0 0 0 C2orf71 388939 broad.mit.edu 37 2 29294945 29294945 + Missense_Mutation SNP C C G TCGA-CV-7414-01A-11D-2078-08 TCGA-CV-7414-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7137f980-5301-4b18-9664-d887eaced75e 1d18702d-756c-4764-92d5-6ffbd598cc90 g.chr2:29294945C>G uc002rmt.1 - 1 2183 c.2183G>C c.(2182-2184)AGA>ACA p.R728T NM_001029883 NP_001025054 A6NGG8 CB071_HUMAN hypothetical protein LOC388939 728 response to stimulus|visual perception photoreceptor outer segment skin(1) 1 GACGGATGTTCTGGTGGGACA 0.547 NA 5 80 0 0 0 0 PRKD3 23683 broad.mit.edu 37 2 37520323 37520323 + Nonsense_Mutation SNP G G C TCGA-CV-7414-01A-11D-2078-08 TCGA-CV-7414-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7137f980-5301-4b18-9664-d887eaced75e 1d18702d-756c-4764-92d5-6ffbd598cc90 g.chr2:37520323G>C uc002rqd.2 - 2 935 c.380C>G c.(379-381)TCA>TGA p.S127* PRKD3_uc002rqf.1_Nonsense_Mutation_p.S127* NM_005813 NP_005804 O94806 KPCD3_HUMAN protein kinase D3 127 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction cytoplasm|membrane|nucleus ATP binding|metal ion binding|protein binding|protein kinase C activity lung(2)|ovary(1)|central_nervous_system(1) 4 all_hematologic(82;0.21) TTCATCTGCTGAGGTAATCAG 0.408 NA 6 76 0 0 0 0 TMEM178 130733 broad.mit.edu 37 2 39944277 39944277 + Silent SNP C C T TCGA-CV-7414-01A-11D-2078-08 TCGA-CV-7414-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7137f980-5301-4b18-9664-d887eaced75e 1d18702d-756c-4764-92d5-6ffbd598cc90 g.chr2:39944277C>T uc002rrt.2 + 4 805 c.780C>T c.(778-780)TGC>TGT p.C260C TMEM178_uc010fam.1_Silent_p.C214C NM_152390 NP_689603 Q8NBL3 TM178_HUMAN transmembrane protein 178 precursor 260 Helical; (Potential). integral to membrane 0 all_hematologic(82;0.248) CCATCTTTTGCGCCTGGTGCA 0.493 NA 55 71 0 0 0 0 GKN1 56287 broad.mit.edu 37 2 69206027 69206027 + Nonsense_Mutation SNP C C T TCGA-CV-7414-01A-11D-2078-08 TCGA-CV-7414-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7137f980-5301-4b18-9664-d887eaced75e 1d18702d-756c-4764-92d5-6ffbd598cc90 g.chr2:69206027C>T uc002sfc.2 + 4 334 c.271C>T c.(271-273)CAA>TAA p.Q91* NM_019617 NP_062563 Q9NS71 GKN1_HUMAN 18 kDa antrum mucosa protein precursor 91 BRICHOS. digestion|positive regulation of cell division extracellular region breast(1) 1 CAGACTCTTTCAAAAGAAGAC 0.433 NA 4 53 0 0 0 0 POLR1A 25885 broad.mit.edu 37 2 86302279 86302279 + Silent SNP G G A TCGA-CV-7414-01A-11D-2078-08 TCGA-CV-7414-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7137f980-5301-4b18-9664-d887eaced75e 1d18702d-756c-4764-92d5-6ffbd598cc90 g.chr2:86302279G>A uc002sqs.2 - 12 1864 c.1485C>T c.(1483-1485)TCC>TCT p.S495S NM_015425 NP_056240 O95602 RPA1_HUMAN DNA-directed RNA polymerase I A 495 termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter DNA-directed RNA polymerase I complex|nucleoplasm DNA binding|DNA-directed RNA polymerase activity|protein binding|zinc ion binding ovary(2)|skin(1) 3 TGATGACCATGGAGGCTCCTG 0.602 NA 20 6 0 0 0 0 AFF3 3899 broad.mit.edu 37 2 100266105 100266105 + Silent SNP G G A TCGA-CV-7414-01A-11D-2078-08 TCGA-CV-7414-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7137f980-5301-4b18-9664-d887eaced75e 1d18702d-756c-4764-92d5-6ffbd598cc90 g.chr2:100266105G>A uc002tag.2 - 12 1403 c.1167C>T c.(1165-1167)CTC>CTT p.L389L AFF3_uc002taf.2_Silent_p.L414L|AFF3_uc010fiq.1_Silent_p.L389L|AFF3_uc010yvr.1_Silent_p.L542L|AFF3_uc002tah.1_Silent_p.L414L NM_002285 NP_002276 P51826 AFF3_HUMAN AF4/FMR2 family, member 3 isoform 1 389 multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding ovary(2)|pancreas(1)|lung(1)|kidney(1)|skin(1) 6 AGAGAGCGCGGAGAGCCGTTC 0.363 NA 8 76 0 0 0 0 FOXD4L1 200350 broad.mit.edu 37 2 114257406 114257406 + Silent SNP C C T TCGA-CV-7414-01A-11D-2078-08 TCGA-CV-7414-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7137f980-5301-4b18-9664-d887eaced75e 1d18702d-756c-4764-92d5-6ffbd598cc90 g.chr2:114257406C>T uc002tjw.3 + 1 746 c.573C>T c.(571-573)TTC>TTT p.F191F NM_012184 NP_036316 Q9NU39 FX4L1_HUMAN forkhead box D4-like 1 191 Fork-head. axon extension involved in axon guidance|cartilage development|dichotomous subdivision of terminal units involved in ureteric bud branching|embryo development|enteric nervous system development|iridophore differentiation|lateral line nerve glial cell development|melanocyte differentiation|neural crest cell migration|pattern specification process|peripheral nervous system development|positive regulation of BMP signaling pathway|positive regulation of kidney development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|sympathetic nervous system development transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding 0 AGGACATGTTCGACAATGGCA 0.652 NA 13 180 0 0 0 0 TMEM177 80775 broad.mit.edu 37 2 120439145 120439145 + Missense_Mutation SNP C C G TCGA-CV-7414-01A-11D-2078-08 TCGA-CV-7414-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7137f980-5301-4b18-9664-d887eaced75e 1d18702d-756c-4764-92d5-6ffbd598cc90 g.chr2:120439145C>G uc010flg.1 + 2 1189 c.716C>G c.(715-717)TCT>TGT p.S239C TMEM177_uc002tme.2_Intron|TMEM177_uc002tmc.1_Missense_Mutation_p.S239C|TMEM177_uc002tmd.2_Missense_Mutation_p.S239C|TMEM177_uc010flh.2_Intron NM_001105198 NP_001098668 Q53S58 TM177_HUMAN transmembrane protein 177 239 integral to membrane ovary(1) 1 Colorectal(110;0.196) GCCTCCCTCTCTGCAGCCTAT 0.607 NA 16 33 0 0 0 0 NEB 4703 broad.mit.edu 37 2 152398055 152398055 + Missense_Mutation SNP C C T TCGA-CV-7414-01A-11D-2078-08 TCGA-CV-7414-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7137f980-5301-4b18-9664-d887eaced75e 1d18702d-756c-4764-92d5-6ffbd598cc90 g.chr2:152398055C>T uc010fnx.2 - 108 15676 c.15485G>A c.(15484-15486)AGA>AAA p.R5162K NEB_uc002txr.2_Missense_Mutation_p.R1585K NM_004543 NP_004534 P20929 NEBU_HUMAN nebulin isoform 3 5162 Nebulin 140. 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) GCCTGCAGCTCTGTAGACCAG 0.358 NA 7 90 0 0 0 0 BAZ2B 29994 broad.mit.edu 37 2 160194092 160194092 + Silent SNP C C T TCGA-CV-7414-01A-11D-2078-08 TCGA-CV-7414-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7137f980-5301-4b18-9664-d887eaced75e 1d18702d-756c-4764-92d5-6ffbd598cc90 g.chr2:160194092C>T uc002uao.2 - 32 5998 c.5646G>A c.(5644-5646)CGG>CGA p.R1882R BAZ2B_uc002uap.2_Silent_p.R1846R NM_013450 NP_038478 Q9UIF8 BAZ2B_HUMAN bromodomain adjacent to zinc finger domain, 2B 1882 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding ovary(3)|skin(1) 4 TTTCAATGTTCCGCTCCAAAT 0.488 NA 37 84 0 0 0 0 XIRP2 129446 broad.mit.edu 37 2 168107133 168107133 + Missense_Mutation SNP G G T TCGA-CV-7414-01A-11D-2078-08 TCGA-CV-7414-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7137f980-5301-4b18-9664-d887eaced75e 1d18702d-756c-4764-92d5-6ffbd598cc90 g.chr2:168107133G>T uc002udx.2 + 8 9249 c.9231G>T c.(9229-9231)GAG>GAT p.E3077D XIRP2_uc010fpn.2_Intron|XIRP2_uc010fpo.2_Intron|XIRP2_uc010fpp.2_Intron|XIRP2_uc002udy.2_Missense_Mutation_p.E2902D|XIRP2_uc010fpq.2_Missense_Mutation_p.E2855D|XIRP2_uc010fpr.2_Intron NM_152381 NP_689594 A4UGR9 XIRP2_HUMAN xin actin-binding repeat containing 2 isoform 1 2902 actin cytoskeleton organization cell junction actin binding skin(7)|ovary(6)|pancreas(1) 14 TTGCCAAAGAGAAAACAGTAC 0.353 NA 55 18 1.28e-28 1.38e-28 1 0 ZAK 51776 broad.mit.edu 37 2 174131080 174131080 + Missense_Mutation SNP G G C TCGA-CV-7414-01A-11D-2078-08 TCGA-CV-7414-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7137f980-5301-4b18-9664-d887eaced75e 1d18702d-756c-4764-92d5-6ffbd598cc90 g.chr2:174131080G>C uc002uhz.2 + 20 2205 c.2005G>C c.(2005-2007)GAG>CAG p.E669Q uc002uib.2_Intron NM_016653 NP_057737 Q9NYL2 MLTK_HUMAN MLK-related kinase isoform 1 669 activation of JUN kinase activity|activation of MAPKK activity|cell cycle arrest|cell death|cell differentiation|cell proliferation|DNA damage checkpoint|positive regulation of apoptosis|response to radiation cytoplasm|nucleus ATP binding|identical protein binding|magnesium ion binding|MAP kinase kinase kinase activity|protein binding lung(3)|stomach(1)|ovary(1)|skin(1) 6 OV - Ovarian serous cystadenocarcinoma(117;0.176) CACCTCTTCAGAGAGGGGTCG 0.458 NA 17 61 0 0 0 0 TTN 7273 broad.mit.edu 37 2 179413442 179413442 + Missense_Mutation SNP C C G TCGA-CV-7414-01A-11D-2078-08 TCGA-CV-7414-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7137f980-5301-4b18-9664-d887eaced75e 1d18702d-756c-4764-92d5-6ffbd598cc90 g.chr2:179413442C>G uc010zfg.1 - 288 85431 c.85207G>C c.(85207-85209)GAT>CAT p.D28403H uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.D22098H|TTN_uc010zfi.1_Missense_Mutation_p.D22031H|TTN_uc010zfj.1_Missense_Mutation_p.D21906H NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 29330 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) GTATGGATATCAGCCCGAAGG 0.478 NA 5 73 0 0 0 0 TRAK2 66008 broad.mit.edu 37 2 202285154 202285154 + Missense_Mutation SNP G G A rs146913241 byFrequency TCGA-CV-7414-01A-11D-2078-08 TCGA-CV-7414-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7137f980-5301-4b18-9664-d887eaced75e 1d18702d-756c-4764-92d5-6ffbd598cc90 g.chr2:202285154G>A uc002uyb.3 - 2 523 c.77C>T c.(76-78)TCG>TTG p.S26L TRAK2_uc002uyc.2_Missense_Mutation_p.S26L NM_015049 NP_055864 O60296 TRAK2_HUMAN trafficking protein, kinesin binding 2 26 early endosome|plasma membrane GABA receptor binding 0 GATGCTCTCCGAGTCTCTGTG 0.398 NA 11 88 0 0 0 0 ILKAP 80895 broad.mit.edu 37 2 239079271 239079271 + Missense_Mutation SNP C C T TCGA-CV-7414-01A-11D-2078-08 TCGA-CV-7414-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7137f980-5301-4b18-9664-d887eaced75e 1d18702d-756c-4764-92d5-6ffbd598cc90 g.chr2:239079271C>T uc002vxv.2 - 12 1215 c.1085G>A c.(1084-1086)CGC>CAC p.R362H ILKAP_uc010zns.1_Missense_Mutation_p.R294H|ILKAP_uc002vxw.2_Missense_Mutation_p.R242H NM_030768 NP_110395 Q9H0C8 ILKAP_HUMAN integrin-linked kinase-associated protein 362 PP2C-like. cytoplasm|protein serine/threonine phosphatase complex metal ion binding|protein binding ovary(3) 3 Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_lung(227;0.152)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Hepatocellular(293;0.244) Epithelial(121;5.49e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.93e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.82e-08)|BRCA - Breast invasive adenocarcinoma(100;0.00012)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.0163) TGCTTCGTAGCGGGCGTCGGC 0.612 NA 20 27 0 0 0 0 SIRPD 128646 broad.mit.edu 37 20 1517864 1517864 + Missense_Mutation SNP C C G TCGA-CV-7414-01A-11D-2078-08 TCGA-CV-7414-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7137f980-5301-4b18-9664-d887eaced75e 1d18702d-756c-4764-92d5-6ffbd598cc90 g.chr20:1517864C>G uc002wfi.2 - 3 558 c.514G>C c.(514-516)GAG>CAG p.E172Q NM_178460 NP_848555 Q9H106 SIRPD_HUMAN signal-regulatory protein delta precursor 172 extracellular region ovary(1)|kidney(1)|skin(1) 3 CTGTTTCTCTCAGGCAGGGCC 0.602 NA 5 83 0 0 0 0 SLC4A11 83959 broad.mit.edu 37 20 3210904 3210904 + Missense_Mutation SNP G G A rs121909388 TCGA-CV-7414-01A-11D-2078-08 TCGA-CV-7414-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7137f980-5301-4b18-9664-d887eaced75e 1d18702d-756c-4764-92d5-6ffbd598cc90 g.chr20:3210904G>A uc002wig.2 - 12 1514 c.1466C>T c.(1465-1467)TCG>TTG p.S489L SLC4A11_uc010zqe.1_Missense_Mutation_p.S516L|SLC4A11_uc002wih.2_RNA|SLC4A11_uc010zqf.1_Missense_Mutation_p.S473L NM_032034 NP_114423 Q8NBS3 S4A11_HUMAN solute carrier family 4 member 11 489 Membrane (bicarbonate transporter). S -> L (in CHED2; affects protein processing and transport to the cell surface). cellular cation homeostasis|fluid transport|phosphoenolpyruvate-dependent sugar phosphotransferase system basolateral plasma membrane|integral to membrane bicarbonate transmembrane transporter activity|borate transmembrane transporter activity|hydrogen ion channel activity|inorganic anion exchanger activity|sodium channel activity|sugar:hydrogen symporter activity ovary(1) 1 CTCCTCCGTCGACCTGCCAGG 0.637 NA 14 20 0 0 0 0 NKX2-2 4821 broad.mit.edu 37 20 21494272 21494272 + Silent SNP G G A TCGA-CV-7414-01A-11D-2078-08 TCGA-CV-7414-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7137f980-5301-4b18-9664-d887eaced75e 1d18702d-756c-4764-92d5-6ffbd598cc90 g.chr20:21494272G>A uc002wsi.2 - 1 393 c.36C>T c.(34-36)GTC>GTT p.V12V NM_002509 NP_002500 O95096 NKX22_HUMAN NK2 transcription factor related, locus 2 12 brain development|positive regulation of sequence-specific DNA binding transcription factor activity nucleus chromatin binding|core promoter proximal region DNA binding|transcription coactivator activity pancreas(1)|skin(1) 2 AGATGTCCTTGACCGAAAACC 0.572 NA 6 51 0 0 0 0 PLUNC 51297 broad.mit.edu 37 20 31829196 31829196 + Missense_Mutation SNP G G A TCGA-CV-7414-01A-11D-2078-08 TCGA-CV-7414-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7137f980-5301-4b18-9664-d887eaced75e 1d18702d-756c-4764-92d5-6ffbd598cc90 g.chr20:31829196G>A uc002wyv.2 + 6 657 c.587G>A c.(586-588)GGC>GAC p.G196D PLUNC_uc002wyt.3_Missense_Mutation_p.G196D|PLUNC_uc002wyu.3_Missense_Mutation_p.G196D NM_130852 NP_570913 Q9NP55 PLUNC_HUMAN palate, lung and nasal epithelium associated 196 innate immune response extracellular region lipid binding 0 TTCAGACTTGGCCCCCTCCCC 0.542 NA 97 165 0 0 0 0 EIF2S2 8894 broad.mit.edu 37 20 32677564 32677564 + Missense_Mutation SNP C C T TCGA-CV-7414-01A-11D-2078-08 TCGA-CV-7414-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7137f980-5301-4b18-9664-d887eaced75e 1d18702d-756c-4764-92d5-6ffbd598cc90 g.chr20:32677564C>T uc002xaf.2 - 9 1143 c.974G>A c.(973-975)CGA>CAA p.R325Q EIF2S2_uc002xag.2_Missense_Mutation_p.R322Q|EIF2S2_uc010ges.2_Missense_Mutation_p.R265Q NM_003908 NP_003899 P20042 IF2B_HUMAN eukaryotic translation initiation factor 2 beta 325 cytosol|eukaryotic translation initiation factor 2 complex metal ion binding|protein binding|translation initiation factor activity large_intestine(1) 1 GAGCTGTGCTCGCTTGCCCGT 0.473 NA 23 40 0 0 0 0 LBP 3929 broad.mit.edu 37 20 36993299 36993299 + Missense_Mutation SNP G G A TCGA-CV-7414-01A-11D-2078-08 TCGA-CV-7414-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7137f980-5301-4b18-9664-d887eaced75e 1d18702d-756c-4764-92d5-6ffbd598cc90 g.chr20:36993299G>A uc002xic.1 + 8 849 c.814G>A c.(814-816)GAA>AAA p.E272K NM_004139 NP_004130 P18428 LBP_HUMAN lipopolysaccharide-binding protein precursor 272 acute-phase response|cellular defense response|cellular response to lipoteichoic acid|defense response to Gram-negative bacterium|defense response to Gram-positive bacterium|detection of molecule of bacterial origin|innate immune response|lipid transport|lipopolysaccharide transport|lipopolysaccharide-mediated signaling pathway|macrophage activation involved in immune response|negative regulation of tumor necrosis factor production|opsonization|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of macrophage activation|positive regulation of respiratory burst involved in inflammatory response|positive regulation of toll-like receptor 4 signaling pathway|positive regulation of tumor necrosis factor production|Toll signaling pathway extracellular space Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|lipid binding|lipopolysaccharide binding|lipoteichoic acid binding|receptor binding ovary(1)|central_nervous_system(1) 2 Myeloproliferative disorder(115;0.00878) CCTTCCTGAGGAACACAACAA 0.468 NA 45 84 0 0 0 0 CHD6 84181 broad.mit.edu 37 20 40050616 40050616 + Silent SNP G G C TCGA-CV-7414-01A-11D-2078-08 TCGA-CV-7414-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7137f980-5301-4b18-9664-d887eaced75e 1d18702d-756c-4764-92d5-6ffbd598cc90 g.chr20:40050616G>C uc002xka.1 - 31 4837 c.4659C>G c.(4657-4659)CTC>CTG p.L1553L NM_032221 NP_115597 Q8TD26 CHD6_HUMAN chromodomain helicase DNA binding protein 6 1553 chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding ovary(6)|skin(5)|lung(2)|central_nervous_system(1) 14 Myeloproliferative disorder(115;0.00425) GAGGGCACTTGAGCACTTGCT 0.562 NA 14 39 0 0 0 0 RBPJL 11317 broad.mit.edu 37 20 43942191 43942191 + Missense_Mutation SNP G G C TCGA-CV-7414-01A-11D-2078-08 TCGA-CV-7414-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7137f980-5301-4b18-9664-d887eaced75e 1d18702d-756c-4764-92d5-6ffbd598cc90 g.chr20:43942191G>C uc002xns.2 + 7 775 c.703G>C c.(703-705)GAT>CAT p.D235H RBPJL_uc002xnt.2_Missense_Mutation_p.D235H NM_014276 NP_055091 Q9UBG7 RBPJL_HUMAN recombining binding protein L 235 signal transduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity ovary(1) 1 Myeloproliferative disorder(115;0.0122) CTCTGTGGAGGATGGGGCCTT 0.453 NA 7 15 0 0 0 0 ZNF335 63925 broad.mit.edu 37 20 44577711 44577711 + Missense_Mutation SNP C C G TCGA-CV-7414-01A-11D-2078-08 TCGA-CV-7414-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7137f980-5301-4b18-9664-d887eaced75e 1d18702d-756c-4764-92d5-6ffbd598cc90 g.chr20:44577711C>G uc002xqw.2 - 28 4033 c.3910G>C c.(3910-3912)GAT>CAT p.D1304H ZNF335_uc002xqv.2_Missense_Mutation_p.D416H|ZNF335_uc010zxk.1_Missense_Mutation_p.D1149H NM_022095 NP_071378 Q9H4Z2 ZN335_HUMAN zinc finger protein 335 1304 Gln-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding skin(3)|ovary(1) 4 Myeloproliferative disorder(115;0.0122) ATGGCAGCATCAGCCACTGCT 0.597 NA 6 32 0 0 0 0 CD40 958 broad.mit.edu 37 20 44757575 44757575 + Missense_Mutation SNP G G C TCGA-CV-7414-01A-11D-2078-08 TCGA-CV-7414-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7137f980-5301-4b18-9664-d887eaced75e 1d18702d-756c-4764-92d5-6ffbd598cc90 g.chr20:44757575G>C uc002xrg.1 + 9 807 c.730G>C c.(730-732)GGC>CGC p.G244R CD40_uc002xrh.1_3'UTR|CD40_uc002xri.1_3'UTR|CD40_uc002xrj.1_RNA|CD40_uc002xrk.1_RNA|CD40_uc002xrl.1_RNA NM_001250 NP_001241 P25942 TNR5_HUMAN CD40 antigen isoform 1 precursor 244 Cytoplasmic (Potential). B cell proliferation|cellular response to mechanical stimulus|inflammatory response|platelet activation|positive regulation of endothelial cell apoptosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein complex assembly CD40 receptor complex|extracellular region enzyme binding|receptor activity lung(1)|skin(1) 2 Myeloproliferative disorder(115;0.0122) Simvastatin(DB00641) CGATCTTCCTGGCTCCAACAC 0.597 NA Immune_Deficiency_with_Hyper-IgM OREG0025991 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 17 28 0 0 0 0 ARFGEF2 10564 broad.mit.edu 37 20 47633821 47633821 + Silent SNP T T C TCGA-CV-7414-01A-11D-2078-08 TCGA-CV-7414-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7137f980-5301-4b18-9664-d887eaced75e 1d18702d-756c-4764-92d5-6ffbd598cc90 g.chr20:47633821T>C uc002xtx.3 + 32 4503 c.4351T>C c.(4351-4353)TTA>CTA p.L1451L ARFGEF2_uc010zyf.1_Silent_p.L744L NM_006420 NP_006411 Q9Y6D5 BIG2_HUMAN ADP-ribosylation factor guanine 1451 exocytosis|intracellular signal transduction|regulation of ARF protein signal transduction cytosol|Golgi membrane ARF guanyl-nucleotide exchange factor activity breast(3)|upper_aerodigestive_tract(1) 4 BRCA - Breast invasive adenocarcinoma(12;0.00148)|Colorectal(8;0.198) TACAAATTGCTTAGAAAACTT 0.368 NA 23 32 0 0 0 0 ZNF217 7764 broad.mit.edu 37 20 52198233 52198233 + Missense_Mutation SNP G G T TCGA-CV-7414-01A-11D-2078-08 TCGA-CV-7414-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7137f980-5301-4b18-9664-d887eaced75e 1d18702d-756c-4764-92d5-6ffbd598cc90 g.chr20:52198233G>T uc002xwq.3 - 1 1404 c.1133C>A c.(1132-1134)TCC>TAC p.S378Y ZNF217_uc010gij.1_Missense_Mutation_p.S370Y NM_006526 NP_006517 O75362 ZN217_HUMAN zinc finger protein 217 378 C2H2-type 5. negative regulation of transcription, DNA-dependent histone deacetylase complex protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding skin(2)|ovary(1)|large_intestine(1)|lung(1)|breast(1) 6 all_cancers(1;6.75e-17)|all_epithelial(1;1.76e-18)|Breast(2;3.83e-14)|Lung NSC(4;9.04e-07)|all_lung(4;2.5e-06)|Ovarian(1;0.0398) BRCA - Breast invasive adenocarcinoma(1;9.88e-17)|Epithelial(1;1.56e-14)|all cancers(1;9.44e-13)|STAD - Stomach adenocarcinoma(23;0.0474)|Colorectal(105;0.198) GCCGCACTCGGAGCAGTGAGT 0.607 NA 6 57 0.00198382 0.00202778 1 0 KRTAP27-1 643812 broad.mit.edu 37 21 31709900 31709900 + Silent SNP G G T TCGA-CV-7414-01A-11D-2078-08 TCGA-CV-7414-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7137f980-5301-4b18-9664-d887eaced75e 1d18702d-756c-4764-92d5-6ffbd598cc90 g.chr21:31709900G>T uc002ynx.1 - 1 113 c.87C>A c.(85-87)ACC>ACA p.T29T NM_001077711 NP_001071179 Q3LI81 KR271_HUMAN keratin associated protein 27-1 29 intermediate filament ovary(2) 2 TGTCTTCAAAGGTTATAGGAT 0.468 NA 44 99 7.05e-23 7.56e-23 1 0 MRAP 56246 broad.mit.edu 37 21 33686872 33686872 + Missense_Mutation SNP G G T rs150983600 TCGA-CV-7414-01A-11D-2078-08 TCGA-CV-7414-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7137f980-5301-4b18-9664-d887eaced75e 1d18702d-756c-4764-92d5-6ffbd598cc90 g.chr21:33686872G>T uc002ypk.2 + 5 404 c.217G>T c.(217-219)GAT>TAT p.D73Y URB1_uc002ypn.2_3'UTR NM_206898 NP_996781 Q8TCY5 MRAP_HUMAN melanocortin 2 receptor accessory protein Error:Variant_position_missing_in_Q8TCY5_after_alignment positive regulation of cAMP biosynthetic process|protein localization at cell surface endoplasmic reticulum|integral to membrane|perinuclear region of cytoplasm|plasma membrane corticotropin hormone receptor binding|type 1 melanocortin receptor binding|type 3 melanocortin receptor binding|type 4 melanocortin receptor binding|type 5 melanocortin receptor binding 0 CTTTAACACAGATGAATCTCT 0.378 NA 23 28 3.29e-13 3.48e-13 1 0 ZNF295 49854 broad.mit.edu 37 21 43412300 43412300 + Silent SNP C C G TCGA-CV-7414-01A-11D-2078-08 TCGA-CV-7414-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7137f980-5301-4b18-9664-d887eaced75e 1d18702d-756c-4764-92d5-6ffbd598cc90 g.chr21:43412300C>G uc002zab.3 - 3 2119 c.1905G>C c.(1903-1905)CTG>CTC p.L635L ZNF295_uc002yzz.3_Intron|ZNF295_uc002yzy.3_Silent_p.L635L|ZNF295_uc002zaa.3_Silent_p.L635L NM_001098402 NP_001091872 Q9ULJ3 ZN295_HUMAN zinc finger protein 295 isoform L 635 negative regulation of transcription, DNA-dependent|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus|nucleus methyl-CpG binding|protein binding|zinc ion binding ovary(1)|central_nervous_system(1)|skin(1) 3 ACTTAATGATCAGGGCCTTCT 0.458 NA 4 81 0 0 0 0 TMPRSS3 64699 broad.mit.edu 37 21 43795836 43795836 + Missense_Mutation SNP C C T TCGA-CV-7414-01A-11D-2078-08 TCGA-CV-7414-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7137f980-5301-4b18-9664-d887eaced75e 1d18702d-756c-4764-92d5-6ffbd598cc90 g.chr21:43795836C>T uc002zbb.2 - 12 1537 c.1336G>A c.(1336-1338)GAG>AAG p.E446K TMPRSS3_uc002zay.2_Missense_Mutation_p.E203K|TMPRSS3_uc002zaz.2_Missense_Mutation_p.E319K|TMPRSS3_uc002zba.2_Missense_Mutation_p.E319K|TMPRSS3_uc002zbc.2_Missense_Mutation_p.E445K NM_024022 NP_076927 P57727 TMPS3_HUMAN transmembrane protease, serine 3 isoform 1 446 Peptidase S1.|Extracellular (Potential). cellular sodium ion homeostasis|proteolysis endoplasmic reticulum membrane|integral to membrane scavenger receptor activity|serine-type endopeptidase activity|sodium channel regulator activity ovary(2)|breast(1) 3 TCCATCTGCTCGTGGATCCAG 0.582 NA 37 78 0 0 0 0 ATP6V1E1 529 broad.mit.edu 37 22 18083871 18083871 + Missense_Mutation SNP C C A TCGA-CV-7414-01A-11D-2078-08 TCGA-CV-7414-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7137f980-5301-4b18-9664-d887eaced75e 1d18702d-756c-4764-92d5-6ffbd598cc90 g.chr22:18083871C>A uc002zmr.1 - 5 540 c.353G>T c.(352-354)GGA>GTA p.G118V ATP6V1E1_uc002zms.1_Intron|ATP6V1E1_uc002zmt.1_Missense_Mutation_p.G96V NM_001696 NP_001687 P36543 VATE1_HUMAN vacuolar H+ ATPase E1 isoform a 118 cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport apical plasma membrane|cytosol|endosome|proton-transporting two-sector ATPase complex, catalytic domain protein binding|proton-transporting ATPase activity, rotational mechanism large_intestine(1)|central_nervous_system(1) 2 all_epithelial(15;0.206) Lung(27;0.19) GAGAACCAGTCCATCCAGCAG 0.393 NA 41 69 3.05e-18 3.25e-18 1 0 SF3A1 10291 broad.mit.edu 37 22 30730681 30730681 + Missense_Mutation SNP T T C TCGA-CV-7414-01A-11D-2078-08 TCGA-CV-7414-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7137f980-5301-4b18-9664-d887eaced75e 1d18702d-756c-4764-92d5-6ffbd598cc90 g.chr22:30730681T>C uc003ahl.2 - 16 2416 c.2284A>G c.(2284-2286)ATC>GTC p.I762V NM_005877 NP_005868 Q15459 SF3A1_HUMAN splicing factor 3a, subunit 1, 120kDa isoform 1 762 Ubiquitin-like. nuclear mRNA 3'-splice site recognition catalytic step 2 spliceosome|nucleoplasm|U2-type spliceosomal complex protein binding|RNA binding ovary(3)|large_intestine(1)|pancreas(1) 5 TTGATGAAGATACCCTGGAAA 0.537 NA 26 46 0 0 0 0 CSF2RB 1439 broad.mit.edu 37 22 37334191 37334191 + Missense_Mutation SNP A A T TCGA-CV-7414-01A-11D-2078-08 TCGA-CV-7414-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7137f980-5301-4b18-9664-d887eaced75e 1d18702d-756c-4764-92d5-6ffbd598cc90 g.chr22:37334191A>T uc003aqa.3 + 14 2558 c.2341A>T c.(2341-2343)AGG>TGG p.R781W CSF2RB_uc003aqc.3_Missense_Mutation_p.R787W NM_000395 NP_000386 P32927 IL3RB_HUMAN colony stimulating factor 2 receptor, beta 781 Cytoplasmic (Potential). respiratory gaseous exchange granulocyte macrophage colony-stimulating factor receptor complex cytokine receptor activity skin(2)|pancreas(1) 3 Sargramostim(DB00020) CAGGTCACCAAGGAACAATCC 0.652 NA 15 32 0 0 0 0 WNT7B 7477 broad.mit.edu 37 22 46319005 46319005 + Missense_Mutation SNP G G C TCGA-CV-7414-01A-11D-2078-08 TCGA-CV-7414-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7137f980-5301-4b18-9664-d887eaced75e 1d18702d-756c-4764-92d5-6ffbd598cc90 g.chr22:46319005G>C uc003bgo.2 - 4 1155 c.781C>G c.(781-783)CAG>GAG p.Q261E WNT7B_uc010haa.2_Missense_Mutation_p.Q265E NM_058238 NP_478679 P56706 WNT7B_HUMAN wingless-type MMTV integration site family, 261 activation of JUN kinase activity|anterior/posterior pattern formation|axis specification|axonogenesis|canonical Wnt receptor signaling pathway|cell-cell signaling|cellular response to retinoic acid|central nervous system vasculogenesis|chorio-allantoic fusion|developmental growth involved in morphogenesis|embryonic placenta morphogenesis|establishment or maintenance of polarity of embryonic epithelium|fibroblast proliferation|forebrain regionalization|inner medullary collecting duct development|lens fiber cell development|lobar bronchus development|lung epithelium development|lung morphogenesis|lung-associated mesenchyme development|mammary gland epithelium development|metanephric collecting duct development|metanephric loop of Henle development|metanephros morphogenesis|negative regulation of smoothened signaling pathway|outer medullary collecting duct development|oxygen homeostasis|positive regulation of JNK cascade|positive regulation of osteoblast differentiation|renal inner medulla development|renal outer medulla development|stem cell proliferation|synapse organization|trachea cartilage morphogenesis|Wnt receptor signaling pathway, calcium modulating pathway extracellular space|plasma membrane|proteinaceous extracellular matrix extracellular matrix structural constituent|frizzled binding|signal transducer activity lung(1) 1 Ovarian(80;0.00965)|all_neural(38;0.0416) UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)|LUAD - Lung adenocarcinoma(64;0.247) ATGGGCTTCTGATAGCTGCGC 0.647 NA 7 62 0 0 0 0 BRPF1 7862 broad.mit.edu 37 3 9786777 9786777 + Silent SNP G G C TCGA-CV-7414-01A-11D-2078-08 TCGA-CV-7414-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7137f980-5301-4b18-9664-d887eaced75e 1d18702d-756c-4764-92d5-6ffbd598cc90 g.chr3:9786777G>C uc003bse.2 + 10 3387 c.2988G>C c.(2986-2988)CGG>CGC p.R996R BRPF1_uc003bsf.2_Silent_p.R1002R|BRPF1_uc003bsg.2_Silent_p.R995R|BRPF1_uc011ati.1_Silent_p.R901R NM_004634 NP_004625 P55201 BRPF1_HUMAN bromodomain and PHD finger-containing protein 1 996 Required for RUNX1 and RUNX2 transcriptional activation. histone H3 acetylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|MOZ/MORF histone acetyltransferase complex|plasma membrane DNA binding|zinc ion binding ovary(2)|central_nervous_system(1) 3 Medulloblastoma(99;0.227) GCCTTCCCCGGAGCAGCTCAG 0.557 NA 11 18 0 0 0 0 SLC6A1 6529 broad.mit.edu 37 3 11072889 11072889 + Silent SNP T T C TCGA-CV-7414-01A-11D-2078-08 TCGA-CV-7414-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7137f980-5301-4b18-9664-d887eaced75e 1d18702d-756c-4764-92d5-6ffbd598cc90 g.chr3:11072889T>C uc010hdq.2 + 13 1761 c.1350T>C c.(1348-1350)TTT>TTC p.F450F NM_003042 NP_003033 P30531 SC6A1_HUMAN solute carrier family 6 (neurotransmitter 450 neurotransmitter secretion integral to plasma membrane gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity ovary(1)|skin(1) 2 Ovarian(110;0.0392) OV - Ovarian serous cystadenocarcinoma(96;0.00099) Cocaine(DB00907)|Tiagabine(DB00906) TCAAACTCTTTGACTACTACT 0.498 NA 25 95 0 0 0 0 C3orf20 84077 broad.mit.edu 37 3 14799082 14799082 + Silent SNP C C T TCGA-CV-7414-01A-11D-2078-08 TCGA-CV-7414-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7137f980-5301-4b18-9664-d887eaced75e 1d18702d-756c-4764-92d5-6ffbd598cc90 g.chr3:14799082C>T uc003byy.2 + 13 2549 c.2145C>T c.(2143-2145)ATC>ATT p.I715I C3orf20_uc003byz.2_Silent_p.I593I|C3orf20_uc003bza.2_Silent_p.I593I|C3orf20_uc003bzb.1_Silent_p.I216I|C3orf20_uc011avj.1_Silent_p.I42I NM_032137 NP_115513 Q8ND61 CC020_HUMAN hypothetical protein LOC84077 715 cytoplasm|integral to membrane ovary(3)|skin(1) 4 TGTTTGGGATCATCTCAAGCC 0.637 NA 4 28 0 0 0 0 KAT2B 8850 broad.mit.edu 37 3 20181763 20181763 + Missense_Mutation SNP C C G TCGA-CV-7414-01A-11D-2078-08 TCGA-CV-7414-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7137f980-5301-4b18-9664-d887eaced75e 1d18702d-756c-4764-92d5-6ffbd598cc90 g.chr3:20181763C>G uc003cbq.2 + 13 2357 c.1911C>G c.(1909-1911)ATC>ATG p.I637M NM_003884 NP_003875 Q92831 KAT2B_HUMAN K(lysine) acetyltransferase 2B 637 N-acetyltransferase. cell cycle arrest|cellular response to insulin stimulus|chromatin remodeling|histone H3 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|negative regulation of cell proliferation|transcription initiation from RNA polymerase I promoter Ada2/Gcn5/Ada3 transcription activator complex|chromatin remodeling complex|PCAF complex cyclin-dependent protein kinase inhibitor activity|histone acetyltransferase activity|histone deacetylase binding|protein kinase binding|transcription coactivator activity|transcription factor binding ovary(1)|central_nervous_system(1)|pancreas(1) 3 TTGGCTATATCAAGGATTATG 0.328 NA 5 44 0 0 0 0 SCN11A 11280 broad.mit.edu 37 3 38888469 38888469 + Missense_Mutation SNP C C G TCGA-CV-7414-01A-11D-2078-08 TCGA-CV-7414-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7137f980-5301-4b18-9664-d887eaced75e 1d18702d-756c-4764-92d5-6ffbd598cc90 g.chr3:38888469C>G uc011ays.1 - 26 5291 c.5092G>C c.(5092-5094)GAT>CAT p.D1698H NM_014139 NP_054858 Q9UI33 SCNBA_HUMAN sodium channel, voltage-gated, type XI, alpha 1698 response to drug voltage-gated sodium channel complex voltage-gated sodium channel activity skin(6)|ovary(1)|haematopoietic_and_lymphoid_tissue(1)|pancreas(1) 9 Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226) Cocaine(DB00907) TCTAGGCCATCAGAGCCACCG 0.453 NA 4 74 0 0 0 0 SCN11A 11280 broad.mit.edu 37 3 38941542 38941542 + Missense_Mutation SNP G G C TCGA-CV-7414-01A-11D-2078-08 TCGA-CV-7414-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7137f980-5301-4b18-9664-d887eaced75e 1d18702d-756c-4764-92d5-6ffbd598cc90 g.chr3:38941542G>C uc011ays.1 - 13 2064 c.1865C>G c.(1864-1866)GCA>GGA p.A622G NM_014139 NP_054858 Q9UI33 SCNBA_HUMAN sodium channel, voltage-gated, type XI, alpha 622 II.|Helical; Name=S2 of repeat II; (By similarity). response to drug voltage-gated sodium channel complex voltage-gated sodium channel activity skin(6)|ovary(1)|haematopoietic_and_lymphoid_tissue(1)|pancreas(1) 9 Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226) Cocaine(DB00907) GCACATTTCTGCTATAAAAAT 0.428 NA 3 19 0 0 0 0 XCR1 2829 broad.mit.edu 37 3 46062824 46062824 + Missense_Mutation SNP C C T TCGA-CV-7414-01A-11D-2078-08 TCGA-CV-7414-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7137f980-5301-4b18-9664-d887eaced75e 1d18702d-756c-4764-92d5-6ffbd598cc90 g.chr3:46062824C>T uc003cpe.2 - 3 840 c.616G>A c.(616-618)GTG>ATG p.V206M uc003cpd.1_5'Flank|XCR1_uc003cpf.2_Missense_Mutation_p.V206M NM_005283 NP_005274 P46094 XCR1_HUMAN XC chemokine receptor 1 206 Helical; Name=5; (Potential). chemotaxis|G-protein signaling, coupled to cyclic nucleotide second messenger|inflammatory response integral to plasma membrane chemokine receptor activity ovary(1) 1 BRCA - Breast invasive adenocarcinoma(193;0.00113)|KIRC - Kidney renal clear cell carcinoma(197;0.0172)|Kidney(197;0.0203) AGGATCTCCACGTAGCAGAAC 0.587 NA 9 12 0 0 0 0 BSN 8927 broad.mit.edu 37 3 49699342 49699342 + Nonsense_Mutation SNP C C G TCGA-CV-7414-01A-11D-2078-08 TCGA-CV-7414-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7137f980-5301-4b18-9664-d887eaced75e 1d18702d-756c-4764-92d5-6ffbd598cc90 g.chr3:49699342C>G uc003cxe.3 + 6 10178 c.10064C>G c.(10063-10065)TCA>TGA p.S3355* NM_003458 NP_003449 Q9UPA5 BSN_HUMAN bassoon protein 3355 synaptic transmission cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome metal ion binding ovary(5)|pancreas(1)|central_nervous_system(1)|skin(1) 8 BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336) GCCATCTCCTCAAAGCGCAGC 0.572 NA 3 29 0 0 0 0 TEX264 51368 broad.mit.edu 37 3 51708516 51708516 + Missense_Mutation SNP G G C TCGA-CV-7414-01A-11D-2078-08 TCGA-CV-7414-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7137f980-5301-4b18-9664-d887eaced75e 1d18702d-756c-4764-92d5-6ffbd598cc90 g.chr3:51708516G>C uc010hls.2 + 3 365 c.196G>C c.(196-198)GAG>CAG p.E66Q TEX264_uc003dbk.3_Missense_Mutation_p.E66Q|TEX264_uc010hlt.2_Intron|TEX264_uc003dbl.3_Missense_Mutation_p.E66Q|TEX264_uc003dbm.3_Missense_Mutation_p.E105Q NM_001129884 NP_001123356 Q9Y6I9 TX264_HUMAN testis expressed 264 precursor 66 extracellular region 0 BRCA - Breast invasive adenocarcinoma(193;8.53e-05)|Kidney(197;0.000594)|KIRC - Kidney renal clear cell carcinoma(197;0.000759) GCTTTTCACTGAGAGCTGCAG 0.587 NA 4 39 0 0 0 0 RYBP 23429 broad.mit.edu 37 3 72428559 72428559 + Nonsense_Mutation SNP G G A TCGA-CV-7414-01A-11D-2078-08 TCGA-CV-7414-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7137f980-5301-4b18-9664-d887eaced75e 1d18702d-756c-4764-92d5-6ffbd598cc90 g.chr3:72428559G>A uc003dpe.2 - 2 265 c.148C>T c.(148-150)CAG>TAG p.Q50* NM_012234 NP_036366 Q8N488 RYBP_HUMAN RING1 and YY1 binding protein 60 apoptosis|histone H2A monoubiquitination|multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent cytoplasm|nucleoplasm DNA binding|protein binding|transcription corepressor activity|zinc ion binding 0 Prostate(10;0.00174)|Lung NSC(201;0.0659)|Myeloproliferative disorder(1037;0.204) BRCA - Breast invasive adenocarcinoma(55;0.000197)|Epithelial(33;0.00068)|LUSC - Lung squamous cell carcinoma(21;0.00228)|Lung(16;0.00677)|KIRC - Kidney renal clear cell carcinoma(39;0.198)|Kidney(39;0.232) GCCACCAGCTGAGAATTGATC 0.388 NA 16 18 0 0 0 0 DPPA2 151871 broad.mit.edu 37 3 109028157 109028157 + Missense_Mutation SNP C C T TCGA-CV-7414-01A-11D-2078-08 TCGA-CV-7414-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7137f980-5301-4b18-9664-d887eaced75e 1d18702d-756c-4764-92d5-6ffbd598cc90 g.chr3:109028157C>T uc003dxo.2 - 4 449 c.202G>A c.(202-204)GAG>AAG p.E68K NM_138815 NP_620170 Q7Z7J5 DPPA2_HUMAN developmental pluripotency associated 2 68 nucleus nucleic acid binding ovary(2)|upper_aerodigestive_tract(1) 3 GTAAATTGCTCATTTGTTTGA 0.363 NA 5 112 0 0 0 0 MUC13 56667 broad.mit.edu 37 3 124646819 124646819 + Nonsense_Mutation SNP G G C TCGA-CV-7414-01A-11D-2078-08 TCGA-CV-7414-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7137f980-5301-4b18-9664-d887eaced75e 1d18702d-756c-4764-92d5-6ffbd598cc90 g.chr3:124646819G>C uc003ehq.1 - 2 95 c.71C>G c.(70-72)TCA>TGA p.S24* NM_033049 NP_149038 Q9H3R2 MUC13_HUMAN mucin 13, epithelial transmembrane 24 Extracellular (Potential). extracellular region|integral to membrane|plasma membrane 0 AGCATCAGCTGAGTTGCCTTG 0.428 NA 5 110 0 0 0 0 MSL2 55167 broad.mit.edu 37 3 135870295 135870295 + Missense_Mutation SNP G G C TCGA-CV-7414-01A-11D-2078-08 TCGA-CV-7414-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7137f980-5301-4b18-9664-d887eaced75e 1d18702d-756c-4764-92d5-6ffbd598cc90 g.chr3:135870295G>C uc003eqx.1 - 2 2161 c.1428C>G c.(1426-1428)TGC>TGG p.C476W MSL2_uc011bmb.1_Missense_Mutation_p.C402W NM_018133 NP_060603 Q9HCI7 MSL2_HUMAN ring finger protein 184 isoform 1 476 histone H4-K16 acetylation MSL complex zinc ion binding central_nervous_system(1) 1 GTTGGCCTCGGCATGTAAGAA 0.478 NA 21 48 0 0 0 0 A4GNT 51146 broad.mit.edu 37 3 137850006 137850006 + Missense_Mutation SNP G G C TCGA-CV-7414-01A-11D-2078-08 TCGA-CV-7414-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7137f980-5301-4b18-9664-d887eaced75e 1d18702d-756c-4764-92d5-6ffbd598cc90 g.chr3:137850006G>C uc003ers.2 - 2 295 c.93C>G c.(91-93)TTC>TTG p.F31L NM_016161 NP_057245 Q9UNA3 A4GCT_HUMAN alpha-1,4-N-acetylglucosaminyltransferase 31 Lumenal (Potential). protein O-linked glycosylation Golgi membrane|Golgi stack|integral to membrane|membrane fraction acetylglucosaminyltransferase activity|galactosyltransferase activity central_nervous_system(1) 1 AAGGCAAACAGAAGAGGCAGC 0.562 NA 5 90 0 0 0 0 COPB2 9276 broad.mit.edu 37 3 139093347 139093347 + Silent SNP G G A TCGA-CV-7414-01A-11D-2078-08 TCGA-CV-7414-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7137f980-5301-4b18-9664-d887eaced75e 1d18702d-756c-4764-92d5-6ffbd598cc90 g.chr3:139093347G>A uc003etf.3 - 7 865 c.735C>T c.(733-735)ATC>ATT p.I245I COPB2_uc011bmv.1_Silent_p.I216I|COPB2_uc010hui.2_Silent_p.I216I|COPB2_uc011bmw.1_Silent_p.I245I NM_004766 NP_004757 P35606 COPB2_HUMAN coatomer protein complex, subunit beta 2 (beta 245 WD 6. COPI coating of Golgi vesicle|intra-Golgi vesicle-mediated transport|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER COPI vesicle coat|cytosol protein binding|structural molecule activity ovary(2) 2 CTGAACCTGTGATAATGATTG 0.388 NA 33 72 0 0 0 0 PTX3 5806 broad.mit.edu 37 3 157160376 157160376 + Missense_Mutation SNP G G C TCGA-CV-7414-01A-11D-2078-08 TCGA-CV-7414-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7137f980-5301-4b18-9664-d887eaced75e 1d18702d-756c-4764-92d5-6ffbd598cc90 g.chr3:157160376G>C uc003fbl.3 + 3 897 c.754G>C c.(754-756)GAG>CAG p.E252Q VEPH1_uc003fbj.1_Intron|VEPH1_uc003fbk.1_Intron|VEPH1_uc010hvu.1_Intron NM_002852 NP_002843 P26022 PTX3_HUMAN pentraxin 3 precursor 252 Pentaxin. inflammatory response extracellular region central_nervous_system(1) 1 Lung(72;0.0272)|LUSC - Lung squamous cell carcinoma(72;0.0461) GGTGGGTGGAGAGGAGAACAA 0.488 NA 39 78 0 0 0 0 SI 6476 broad.mit.edu 37 3 164785231 164785231 + Missense_Mutation SNP T T G TCGA-CV-7414-01A-11D-2078-08 TCGA-CV-7414-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7137f980-5301-4b18-9664-d887eaced75e 1d18702d-756c-4764-92d5-6ffbd598cc90 g.chr3:164785231T>G uc003fei.2 - 6 594 c.532A>C c.(532-534)AAA>CAA p.K178Q NM_001041 NP_001032 P14410 SUIS_HUMAN sucrase-isomaltase 178 Lumenal.|Isomaltase. carbohydrate metabolic process|polysaccharide digestion apical plasma membrane|brush border|Golgi apparatus|integral to membrane carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity ovary(7)|upper_aerodigestive_tract(4)|skin(2)|pancreas(1) 14 Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199) Acarbose(DB00284) GTAAACTCTTTTACATACTGA 0.343 NA HNSCC(35;0.089) 33 79 0 0 0 0 PRKCI 5584 broad.mit.edu 37 3 170011198 170011198 + Missense_Mutation SNP G G C TCGA-CV-7414-01A-11D-2078-08 TCGA-CV-7414-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7137f980-5301-4b18-9664-d887eaced75e 1d18702d-756c-4764-92d5-6ffbd598cc90 g.chr3:170011198G>C uc003fgs.2 + 14 1557 c.1319G>C c.(1318-1320)GGA>GCA p.G440A PRKCI_uc003fgt.2_5'UTR NM_002740 NP_002731 P41743 KPCI_HUMAN protein kinase C, iota 440 Protein kinase. anti-apoptosis|cellular membrane organization|cellular response to insulin stimulus|establishment or maintenance of epithelial cell apical/basal polarity|intracellular signal transduction|nerve growth factor receptor signaling pathway|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|protein targeting to membrane|secretion|tight junction assembly|vesicle-mediated transport cytosol|endosome|nucleus|polarisome ATP binding|phospholipid binding|protein binding|protein kinase C activity|zinc ion binding lung(2)|ovary(1)|breast(1)|skin(1) 5 all_cancers(22;6.45e-23)|all_epithelial(15;8.52e-28)|all_lung(20;6.31e-17)|Lung NSC(18;2.61e-16)|Ovarian(172;0.000337)|Breast(254;0.169) Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.197) TGGGCTCTTGGAGTGCTCATG 0.393 NA 21 71 0 0 0 0 MCF2L2 23101 broad.mit.edu 37 3 182923993 182923993 + Missense_Mutation SNP G G C TCGA-CV-7414-01A-11D-2078-08 TCGA-CV-7414-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7137f980-5301-4b18-9664-d887eaced75e 1d18702d-756c-4764-92d5-6ffbd598cc90 g.chr3:182923993G>C uc003fli.1 - 24 2812 c.2722C>G c.(2722-2724)CTT>GTT p.L908V NM_015078 NP_055893 Q86YR7 MF2L2_HUMAN Rho family guanine-nucleotide exchange factor 908 PH. regulation of Rho protein signal transduction intracellular Rho guanyl-nucleotide exchange factor activity ovary(2)|large_intestine(2)|breast(1) 5 all_cancers(143;1.26e-12)|Ovarian(172;0.0355) all cancers(12;3.35e-44)|Epithelial(37;6.48e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21) CGAATTGAAAGTGTCATCAGC 0.408 NA 8 95 0 0 0 0 EIF4A2 1974 broad.mit.edu 37 3 186504984 186504984 + Silent SNP C C G TCGA-CV-7414-01A-11D-2078-08 TCGA-CV-7414-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7137f980-5301-4b18-9664-d887eaced75e 1d18702d-756c-4764-92d5-6ffbd598cc90 g.chr3:186504984C>G uc003fqs.2 + 8 879 c.840C>G c.(838-840)CTC>CTG p.L280L EIF4A2_uc003fqt.2_RNA|EIF4A2_uc003fqu.2_Silent_p.L281L|EIF4A2_uc003fqv.2_Silent_p.L185L|EIF4A2_uc003fqw.2_Silent_p.L185L|EIF4A2_uc011bsb.1_Silent_p.L153L|SNORA63_uc010hyw.1_5'Flank|SNORA4_uc010hyx.1_5'Flank NM_001967 NP_001958 Q14240 IF4A2_HUMAN eukaryotic translation initiation factor 4A2 280 Helicase C-terminal. interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation cytosol|eukaryotic translation initiation factor 4F complex ATP binding|ATP-dependent helicase activity|protein binding|translation initiation factor activity ovary(2)|breast(2) 4 all_cancers(143;2.68e-12)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;1.07e-20) GBM - Glioblastoma multiforme(93;0.0704) TTATTTTTCTCAATACGAGGC 0.423 NA T BCL6 NHL 27 139 0 0 0 0 ZNF595 152687 broad.mit.edu 37 4 59346 59346 + Silent SNP G G A TCGA-CV-7414-01A-11D-2078-08 TCGA-CV-7414-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7137f980-5301-4b18-9664-d887eaced75e 1d18702d-756c-4764-92d5-6ffbd598cc90 g.chr4:59346G>A uc003fzv.1 + 2 183 c.27G>A c.(25-27)GTG>GTA p.V9V ZNF595_uc003fzu.1_RNA|ZNF718_uc003fzt.3_Silent_p.V9V|ZNF595_uc010iay.1_RNA|ZNF595_uc011bus.1_5'UTR|ZNF595_uc011but.1_Intron NM_182524 NP_872330 Q7Z3I0 Q7Z3I0_HUMAN zinc finger protein 595 9 regulation of transcription, DNA-dependent intracellular nucleic acid binding|zinc ion binding 0 all_cancers(4;0.0738)|all_epithelial(65;0.139) Lung(54;0.0654)|Epithelial(2;0.0921)|all cancers(2;0.146)|LUSC - Lung squamous cell carcinoma(95;0.173) TCAGGGATGTGGCCATAGAAT 0.413 NA 53 173 0 0 0 0 JAKMIP1 152789 broad.mit.edu 37 4 6055779 6055779 + Missense_Mutation SNP C C T TCGA-CV-7414-01A-11D-2078-08 TCGA-CV-7414-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7137f980-5301-4b18-9664-d887eaced75e 1d18702d-756c-4764-92d5-6ffbd598cc90 g.chr4:6055779C>T uc003giu.3 - 13 2080 c.1804G>A c.(1804-1806)GAA>AAA p.E602K JAKMIP1_uc010idb.1_Missense_Mutation_p.E602K|JAKMIP1_uc010idc.1_Missense_Mutation_p.E417K|JAKMIP1_uc010idd.1_Intron|JAKMIP1_uc011bwc.1_Missense_Mutation_p.E437K|JAKMIP1_uc003giv.3_Missense_Mutation_p.E602K|JAKMIP1_uc010ide.2_3'UTR NM_144720 NP_653321 Q96N16 JKIP1_HUMAN janus kinase and microtubule interacting protein 602 Mediates interaction with TYK2 and GABBR1.|Potential. protein transport cytoplasm|membrane|microtubule|peripheral to membrane of membrane fraction|ribonucleoprotein complex GABA receptor binding|RNA binding large_intestine(1)|pancreas(1)|ovary(1)|skin(1) 4 TCTCTTACTTCGAGTTCTAGC 0.403 NA 9 135 0 0 0 0 MAN2B2 23324 broad.mit.edu 37 4 6606982 6606982 + Silent SNP G G A TCGA-CV-7414-01A-11D-2078-08 TCGA-CV-7414-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7137f980-5301-4b18-9664-d887eaced75e 1d18702d-756c-4764-92d5-6ffbd598cc90 g.chr4:6606982G>A uc003gjf.1 + 11 1776 c.1740G>A c.(1738-1740)TTG>TTA p.L580L MAN2B2_uc003gje.1_Silent_p.L580L|MAN2B2_uc011bwf.1_Silent_p.L529L NM_015274 NP_056089 Q9Y2E5 MA2B2_HUMAN mannosidase, alpha, class 2B, member 2 580 mannose metabolic process extracellular region alpha-mannosidase activity|carbohydrate binding|zinc ion binding ovary(2) 2 GCAGGTACTTGGTGCCTGTGG 0.612 NA 39 7 0 0 0 0 SORCS2 57537 broad.mit.edu 37 4 7714493 7714493 + Missense_Mutation SNP G G C TCGA-CV-7414-01A-11D-2078-08 TCGA-CV-7414-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7137f980-5301-4b18-9664-d887eaced75e 1d18702d-756c-4764-92d5-6ffbd598cc90 g.chr4:7714493G>C uc003gkb.3 + 15 1902 c.1902G>C c.(1900-1902)TGG>TGC p.W634C SORCS2_uc011bwi.1_Missense_Mutation_p.W462C NM_020777 NP_065828 Q96PQ0 SORC2_HUMAN VPS10 domain receptor protein SORCS 2 precursor 634 Lumenal (Potential). integral to membrane neuropeptide receptor activity ovary(1)|central_nervous_system(1) 2 GCTCCGATTGGGAGCTGGTCA 0.597 NA 18 20 0 0 0 0 NSUN7 79730 broad.mit.edu 37 4 40752793 40752793 + Missense_Mutation SNP C C A TCGA-CV-7414-01A-11D-2078-08 TCGA-CV-7414-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7137f980-5301-4b18-9664-d887eaced75e 1d18702d-756c-4764-92d5-6ffbd598cc90 g.chr4:40752793C>A uc003gvj.3 + 2 578 c.83C>A c.(82-84)TCC>TAC p.S28Y NSUN7_uc003gvh.2_Missense_Mutation_p.S28Y|NSUN7_uc003gvi.3_Missense_Mutation_p.S28Y NM_024677 NP_078953 NOL1/NOP2/Sun domain family, member 7 0 CTGCCTCTGTCCGGTGGGAAA 0.527 NA 54 52 3.68e-26 3.96e-26 1 0 FRYL 285527 broad.mit.edu 37 4 48581067 48581067 + Missense_Mutation SNP G G C TCGA-CV-7414-01A-11D-2078-08 TCGA-CV-7414-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7137f980-5301-4b18-9664-d887eaced75e 1d18702d-756c-4764-92d5-6ffbd598cc90 g.chr4:48581067G>C uc003gyh.1 - 23 3056 c.2451C>G c.(2449-2451)CAC>CAG p.H817Q FRYL_uc003gyk.2_Missense_Mutation_p.H817Q NM_015030 NP_055845 O94915 FRYL_HUMAN furry-like 817 regulation of transcription, DNA-dependent|transcription, DNA-dependent protein binding skin(1) 1 CTGTAGAGCAGTGTTTAGGAA 0.393 NA 40 62 0 0 0 0 REST 5978 broad.mit.edu 37 4 57777137 57777137 + Silent SNP G G C TCGA-CV-7414-01A-11D-2078-08 TCGA-CV-7414-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7137f980-5301-4b18-9664-d887eaced75e 1d18702d-756c-4764-92d5-6ffbd598cc90 g.chr4:57777137G>C uc003hch.2 + 2 680 c.333G>C c.(331-333)CTG>CTC p.L111L REST_uc003hci.2_Silent_p.L111L|REST_uc003hcj.1_Silent_p.L111L|REST_uc010ihf.2_5'UTR NM_005612 NP_005603 Q13127 REST_HUMAN RE1-silencing transcription factor 111 Interaction with SIN3A. cardiac muscle cell myoblast differentiation|cellular response to drug|cellular response to electrical stimulus|cellular response to glucocorticoid stimulus|histone H4 deacetylation|negative regulation by host of viral transcription|negative regulation of aldosterone biosynthetic process|negative regulation of calcium ion-dependent exocytosis|negative regulation of cell proliferation|negative regulation of cortisol biosynthetic process|negative regulation of dense core granule biogenesis|negative regulation of insulin secretion|negative regulation of mesenchymal stem cell differentiation|negative regulation of neurogenesis|negative regulation of neuron differentiation|positive regulation of apoptosis|positive regulation of caspase activity|positive regulation of transcription, DNA-dependent cytoplasm|transcriptional repressor complex calcium channel activity|chromatin binding|core promoter proximal region sequence-specific DNA binding|core promoter sequence-specific DNA binding|outward rectifier potassium channel activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|zinc ion binding skin(5)|upper_aerodigestive_tract(1)|ovary(1)|lung(1)|central_nervous_system(1) 9 Glioma(25;0.08)|all_neural(26;0.181) ACATGGAACTGAGAAGTTTGG 0.433 NA 19 56 0 0 0 0 ENAM 10117 broad.mit.edu 37 4 71509397 71509397 + Missense_Mutation SNP G G A TCGA-CV-7414-01A-11D-2078-08 TCGA-CV-7414-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7137f980-5301-4b18-9664-d887eaced75e 1d18702d-756c-4764-92d5-6ffbd598cc90 g.chr4:71509397G>A uc011caw.1 + 9 2535 c.2254G>A c.(2254-2256)GCT>ACT p.A752T NM_031889 NP_114095 Q9NRM1 ENAM_HUMAN enamelin precursor 752 bone mineralization|odontogenesis proteinaceous extracellular matrix structural constituent of tooth enamel ovary(3) 3 Lung(101;0.235) TAATAATGCCGCTGGACCAGA 0.453 NA 27 38 0 0 0 0 MAPK10 5602 broad.mit.edu 37 4 87028405 87028405 + Missense_Mutation SNP C C T TCGA-CV-7414-01A-11D-2078-08 TCGA-CV-7414-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7137f980-5301-4b18-9664-d887eaced75e 1d18702d-756c-4764-92d5-6ffbd598cc90 g.chr4:87028405C>T uc003hpq.2 - 4 404 c.337G>A c.(337-339)GTC>ATC p.V113I MAPK10_uc010ikg.2_Missense_Mutation_p.V75I|MAPK10_uc003hpr.2_Missense_Mutation_p.V75I|MAPK10_uc003hps.2_Missense_Mutation_p.V113I|MAPK10_uc003hpt.2_Missense_Mutation_p.V113I|MAPK10_uc003hpu.2_Missense_Mutation_p.V113I|MAPK10_uc003hpv.2_5'UTR|MAPK10_uc010ikh.1_RNA|MAPK10_uc003hpo.2_5'UTR|MAPK10_uc011ccw.1_5'UTR|MAPK10_uc003hpp.2_5'UTR NM_138982 NP_620448 P53779 MK10_HUMAN mitogen-activated protein kinase 10 isoform 2 113 Protein kinase. innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|regulation of sequence-specific DNA binding transcription factor activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|nucleoplasm ATP binding|JUN kinase activity|MAP kinase kinase activity|protein binding stomach(1)|breast(1)|central_nervous_system(1) 3 Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.243) OV - Ovarian serous cystadenocarcinoma(123;0.002) TTCATGAGGACCAGCTCCCGG 0.438 NA 28 36 0 0 0 0 SLC10A6 345274 broad.mit.edu 37 4 87754557 87754557 + Missense_Mutation SNP G G A TCGA-CV-7414-01A-11D-2078-08 TCGA-CV-7414-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7137f980-5301-4b18-9664-d887eaced75e 1d18702d-756c-4764-92d5-6ffbd598cc90 g.chr4:87754557G>A uc003hqd.2 - 2 546 c.398C>T c.(397-399)TCC>TTC p.S133F NM_197965 NP_932069 Q3KNW5 SOAT_HUMAN sodium-dependent organic anion transporter 133 Cytoplasmic (Potential). integral to membrane|plasma membrane bile acid:sodium symporter activity 0 Acute lymphoblastic leukemia(40;0.244)|all_hematologic(202;0.248) OV - Ovarian serous cystadenocarcinoma(123;0.00099) GGCCACGGTGGAACAGGTTGT 0.443 NA 19 61 0 0 0 0 ADH4 127 broad.mit.edu 37 4 100048496 100048496 + Splice_Site SNP C C G TCGA-CV-7414-01A-11D-2078-08 TCGA-CV-7414-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7137f980-5301-4b18-9664-d887eaced75e 1d18702d-756c-4764-92d5-6ffbd598cc90 g.chr4:100048496C>G uc003hun.2 - 7 920 c.844_splice c.e7-1 p.K282_splice uc003hum.1_Intron|ADH4_uc011ced.1_Splice_Site_p.K301_splice NM_000670 NP_000661 P08319 ADH4_HUMAN class II alcohol dehydrogenase, pi subunit alcohol catabolic process|cellular aldehyde metabolic process|ethanol oxidation|quinone cofactor metabolic process|retinol metabolic process|xenobiotic metabolic process cytosol|microtubule cytoskeleton alcohol dehydrogenase activity, zinc-dependent|all-trans retinal binding|benzaldehyde dehydrogenase activity|NAD binding|NADPH:quinone reductase activity|retinol binding|retinol dehydrogenase activity|zinc ion binding skin(2) 2 OV - Ovarian serous cystadenocarcinoma(123;4.48e-08) NADH(DB00157) GGGCTGCTTTCTGTGATGGAG 0.284 NA 10 45 0 0 0 0 KIAA1109 84162 broad.mit.edu 37 4 123160874 123160874 + Missense_Mutation SNP C C G TCGA-CV-7414-01A-11D-2078-08 TCGA-CV-7414-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7137f980-5301-4b18-9664-d887eaced75e 1d18702d-756c-4764-92d5-6ffbd598cc90 g.chr4:123160874C>G uc003ieh.2 + 27 4082 c.4037C>G c.(4036-4038)TCT>TGT p.S1346C KIAA1109_uc003iei.1_Missense_Mutation_p.S1099C|KIAA1109_uc010ins.1_Missense_Mutation_p.S689C|KIAA1109_uc003iek.2_5'UTR NM_015312 NP_056127 Q2LD37 K1109_HUMAN fragile site-associated protein 1346 regulation of cell growth|regulation of epithelial cell differentiation integral to membrane|nucleus ovary(8)|skin(2)|pancreas(1)|central_nervous_system(1) 12 AGTGATGTCTCTCGAAGTGAT 0.433 NA 6 129 0 0 0 0 KIAA0922 23240 broad.mit.edu 37 4 154502640 154502640 + Missense_Mutation SNP G G C TCGA-CV-7414-01A-11D-2078-08 TCGA-CV-7414-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7137f980-5301-4b18-9664-d887eaced75e 1d18702d-756c-4764-92d5-6ffbd598cc90 g.chr4:154502640G>C uc003inm.3 + 9 872 c.820G>C c.(820-822)GAA>CAA p.E274Q KIAA0922_uc010ipp.2_Missense_Mutation_p.E274Q|KIAA0922_uc010ipq.2_Missense_Mutation_p.E126Q NM_015196 NP_056011 A2VDJ0 T131L_HUMAN hypothetical protein LOC23240 isoform 2 274 Extracellular (Potential). integral to membrane upper_aerodigestive_tract(1)|ovary(1) 2 all_hematologic(180;0.093) Renal(120;0.118) AAAAGAATTTGAAGAAAACAC 0.343 NA 3 33 0 0 0 0 SORBS2 8470 broad.mit.edu 37 4 186567862 186567862 + Missense_Mutation SNP T T C TCGA-CV-7414-01A-11D-2078-08 TCGA-CV-7414-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7137f980-5301-4b18-9664-d887eaced75e 1d18702d-756c-4764-92d5-6ffbd598cc90 g.chr4:186567862T>C uc003iyl.2 - 10 1502 c.644A>G c.(643-645)TAT>TGT p.Y215C SORBS2_uc003iyh.2_Missense_Mutation_p.Y394C|SORBS2_uc011ckw.1_Missense_Mutation_p.Y284C|SORBS2_uc003iyi.2_Missense_Mutation_p.Y301C|SORBS2_uc011ckx.1_Missense_Mutation_p.Y261C|SORBS2_uc003iyk.2_Missense_Mutation_p.Y286C|SORBS2_uc003iym.2_Missense_Mutation_p.Y315C|SORBS2_uc003iyn.1_Missense_Mutation_p.Y261C|SORBS2_uc011cky.1_Missense_Mutation_p.Y278C|SORBS2_uc003iyp.2_Missense_Mutation_p.Y315C|SORBS2_uc011cku.1_Missense_Mutation_p.Y134C|SORBS2_uc011ckv.1_Missense_Mutation_p.Y119C|SORBS2_uc003iyd.2_Missense_Mutation_p.Y394C|SORBS2_uc003iye.2_Missense_Mutation_p.Y215C|SORBS2_uc003iya.2_Missense_Mutation_p.Y215C|SORBS2_uc003iyb.2_Missense_Mutation_p.Y215C|SORBS2_uc003iyc.2_Missense_Mutation_p.Y200C|SORBS2_uc003iyg.2_Missense_Mutation_p.Y301C|SORBS2_uc003iyf.2_Missense_Mutation_p.Y278C|SORBS2_uc003iyo.1_Missense_Mutation_p.Y119C NM_021069 NP_066547 O94875 SRBS2_HUMAN sorbin and SH3 domain containing 2 isoform 2 215 actin cytoskeleton|nucleus|perinuclear region of cytoplasm|Z disc cytoskeletal adaptor activity|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding ovary(1) 1 all_cancers(14;4.27e-52)|all_epithelial(14;6.58e-39)|all_lung(41;1.42e-13)|Lung NSC(41;3.73e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00692)|Hepatocellular(41;0.00826)|Renal(120;0.00994)|Prostate(90;0.0101)|all_hematologic(60;0.0174)|all_neural(102;0.244) OV - Ovarian serous cystadenocarcinoma(60;1.54e-09)|BRCA - Breast invasive adenocarcinoma(30;0.000232)|GBM - Glioblastoma multiforme(59;0.000385)|STAD - Stomach adenocarcinoma(60;0.00109)|LUSC - Lung squamous cell carcinoma(40;0.0205) GCCAGGTTCATATTCAAAAAT 0.428 NA 26 12 0 0 0 0 KLKB1 3818 broad.mit.edu 37 4 187173205 187173205 + Silent SNP A A G TCGA-CV-7414-01A-11D-2078-08 TCGA-CV-7414-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7137f980-5301-4b18-9664-d887eaced75e 1d18702d-756c-4764-92d5-6ffbd598cc90 g.chr4:187173205A>G uc003iyy.2 + 11 1250 c.1179A>G c.(1177-1179)GGA>GGG p.G393G KLKB1_uc011clc.1_Silent_p.G191G|KLKB1_uc011cld.1_Silent_p.G355G NM_000892 NP_000883 P03952 KLKB1_HUMAN plasma kallikrein B1 precursor 393 Peptidase S1. blood coagulation, intrinsic pathway|Factor XII activation|fibrinolysis|plasminogen activation|positive regulation of fibrinolysis cytoplasm|extracellular space|plasma membrane serine-type endopeptidase activity ovary(1) 1 all_cancers(14;1.55e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00664)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243) OV - Ovarian serous cystadenocarcinoma(60;1.29e-10)|BRCA - Breast invasive adenocarcinoma(30;3.8e-05)|GBM - Glioblastoma multiforme(59;0.000131)|STAD - Stomach adenocarcinoma(60;0.000292)|LUSC - Lung squamous cell carcinoma(40;0.00241)|READ - Rectum adenocarcinoma(43;0.168) GCATTGTTGGAGGAACAAACT 0.507 NA 25 15 0 0 0 0 LRRC14B 389257 broad.mit.edu 37 5 192316 192316 + Silent SNP C C T TCGA-CV-7414-01A-11D-2078-08 TCGA-CV-7414-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7137f980-5301-4b18-9664-d887eaced75e 1d18702d-756c-4764-92d5-6ffbd598cc90 g.chr5:192316C>T uc003jal.1 + 1 691 c.663C>T c.(661-663)AAC>AAT p.N221N NM_001080478 NP_001073947 A6NHZ5 LR14B_HUMAN leucine rich repeat containing 14B 221 skin(1) 1 TGGTGCACAACGTGCGGCTGC 0.716 NA 3 4 0 0 0 0 DNAH5 1767 broad.mit.edu 37 5 13885256 13885256 + Missense_Mutation SNP G G A TCGA-CV-7414-01A-11D-2078-08 TCGA-CV-7414-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7137f980-5301-4b18-9664-d887eaced75e 1d18702d-756c-4764-92d5-6ffbd598cc90 g.chr5:13885256G>A uc003jfd.2 - 19 2867 c.2825C>T c.(2824-2826)ACG>ATG p.T942M NM_001369 NP_001360 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 942 Stem (By similarity). microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity ovary(14)|skin(13)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|pancreas(1) 31 Lung NSC(4;0.00476) CTTTTTCCTCGTGACTGTCGT 0.423 NA Kartagener_syndrome 27 42 0 0 0 0 RANBP3L 202151 broad.mit.edu 37 5 36265071 36265071 + Missense_Mutation SNP G G T TCGA-CV-7414-01A-11D-2078-08 TCGA-CV-7414-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7137f980-5301-4b18-9664-d887eaced75e 1d18702d-756c-4764-92d5-6ffbd598cc90 g.chr5:36265071G>T uc003jkh.2 - 6 963 c.470C>A c.(469-471)ACA>AAA p.T157K RANBP3L_uc011cow.1_Missense_Mutation_p.T182K NM_145000 NP_659437 Q86VV4 RNB3L_HUMAN RAN binding protein 3-like isoform 2 157 intracellular transport ovary(1) 1 all_lung(31;4.52e-05) Epithelial(62;0.0543)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.149)|Colorectal(62;0.202) CTTATTATTTGTTTTTTCTTT 0.418 NA 36 63 1.36e-19 1.45e-19 1 0 RASA1 5921 broad.mit.edu 37 5 86672284 86672284 + Missense_Mutation SNP A A G TCGA-CV-7414-01A-11D-2078-08 TCGA-CV-7414-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7137f980-5301-4b18-9664-d887eaced75e 1d18702d-756c-4764-92d5-6ffbd598cc90 g.chr5:86672284A>G uc003kiw.2 + 16 2204 c.2086A>G c.(2086-2088)ATA>GTA p.I696V RASA1_uc010jav.2_RNA|RASA1_uc003kix.2_Missense_Mutation_p.I519V|RASA1_uc011ctv.1_Missense_Mutation_p.I529V|RASA1_uc011ctw.1_Missense_Mutation_p.I530V|RASA1_uc010jaw.2_Missense_Mutation_p.I518V NM_002890 NP_002881 P20936 RASA1_HUMAN RAS p21 protein activator 1 isoform 1 696 cytokinesis|embryo development|intracellular signal transduction|negative regulation of cell-matrix adhesion|negative regulation of neuron apoptosis|negative regulation of Ras protein signal transduction|positive regulation of anti-apoptosis|regulation of actin filament polymerization|regulation of cell shape|regulation of RNA metabolic process|vasculogenesis cytosol|intrinsic to internal side of plasma membrane glycoprotein binding|GTPase binding|potassium channel inhibitor activity|Ras GTPase activator activity|receptor binding upper_aerodigestive_tract(3)|ovary(1)|lung(1) 5 all_cancers(142;8.25e-07)|Lung NSC(167;0.000185)|all_lung(232;0.000222)|Colorectal(57;0.00542)|Ovarian(174;0.0423) OV - Ovarian serous cystadenocarcinoma(54;4.72e-41)|Epithelial(54;1.51e-36)|all cancers(79;3.76e-31) CAGCTCCCATATACCATTAAA 0.423 NA 6 24 0 0 0 0 ARSK 153642 broad.mit.edu 37 5 94938983 94938983 + Missense_Mutation SNP A A C TCGA-CV-7414-01A-11D-2078-08 TCGA-CV-7414-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7137f980-5301-4b18-9664-d887eaced75e 1d18702d-756c-4764-92d5-6ffbd598cc90 g.chr5:94938983A>C uc003kld.2 + 8 1522 c.1364A>C c.(1363-1365)AAA>ACA p.K455T ARSK_uc010jbg.2_Missense_Mutation_p.K296T|ARSK_uc011cum.1_RNA NM_198150 NP_937793 Q6UWY0 ARSK_HUMAN arylsulfatase K precursor 455 extracellular region arylsulfatase activity|metal ion binding pancreas(1) 1 all_cancers(142;3.38e-06)|all_epithelial(76;6.57e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.00473) all cancers(79;6.5e-16) GTTGCTGTAAAATTTCCAGAA 0.308 NA 3 3 0 0 0 0 TRIM36 55521 broad.mit.edu 37 5 114469606 114469606 + Missense_Mutation SNP G G C TCGA-CV-7414-01A-11D-2078-08 TCGA-CV-7414-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7137f980-5301-4b18-9664-d887eaced75e 1d18702d-756c-4764-92d5-6ffbd598cc90 g.chr5:114469606G>C uc003kqs.2 - 8 1994 c.1485C>G c.(1483-1485)ATC>ATG p.I495M TRIM36_uc011cwc.1_Missense_Mutation_p.I483M|TRIM36_uc003kqt.2_Missense_Mutation_p.I340M NM_018700 NP_061170 Q9NQ86 TRI36_HUMAN tripartite motif-containing 36 isoform 1 495 Fibronectin type-III. acrosomal vesicle|cytoskeleton ligase activity|zinc ion binding ovary(4)|lung(2)|breast(2) 8 all_cancers(142;0.00133)|all_epithelial(76;2.41e-05)|Prostate(80;0.00955)|Ovarian(225;0.0443)|Breast(839;0.195) OV - Ovarian serous cystadenocarcinoma(64;3.62e-08)|Epithelial(69;7.69e-08)|all cancers(49;9.33e-06) AAGGACTACAGATTGAACCCT 0.388 NA 7 38 0 0 0 0 HSPA4 3308 broad.mit.edu 37 5 132427045 132427045 + Silent SNP T T C TCGA-CV-7414-01A-11D-2078-08 TCGA-CV-7414-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7137f980-5301-4b18-9664-d887eaced75e 1d18702d-756c-4764-92d5-6ffbd598cc90 g.chr5:132427045T>C uc003kyj.2 + 12 1820 c.1539T>C c.(1537-1539)GAT>GAC p.D513D NM_002154 NP_002145 P34932 HSP74_HUMAN heat shock 70kDa protein 4 513 cellular chaperone-mediated protein complex assembly|protein import into mitochondrial outer membrane|response to unfolded protein cytoplasm|nucleus ATP binding lung(1)|breast(1) 2 KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) TGGAAACAGATCAGAATGCAA 0.438 NA 15 28 0 0 0 0 PCDHB6 56130 broad.mit.edu 37 5 140531735 140531735 + Missense_Mutation SNP G G A TCGA-CV-7414-01A-11D-2078-08 TCGA-CV-7414-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7137f980-5301-4b18-9664-d887eaced75e 1d18702d-756c-4764-92d5-6ffbd598cc90 g.chr5:140531735G>A uc003lir.2 + 1 1897 c.1897G>A c.(1897-1899)GCA>ACA p.A633T PCDHB6_uc011dah.1_Missense_Mutation_p.A497T NM_018939 NP_061762 Q9Y5E3 PCDB6_HUMAN protocadherin beta 6 precursor 633 Cadherin 6.|Extracellular (Potential). calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to plasma membrane calcium ion binding skin(1) 1 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) CGAGCGAGACGCAGCCAAGCA 0.677 NA 9 26 0 0 0 0 ARHGAP26 23092 broad.mit.edu 37 5 142500686 142500686 + Missense_Mutation SNP G G C TCGA-CV-7414-01A-11D-2078-08 TCGA-CV-7414-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7137f980-5301-4b18-9664-d887eaced75e 1d18702d-756c-4764-92d5-6ffbd598cc90 g.chr5:142500686G>C uc011dbj.1 + 18 1707 c.1672G>C c.(1672-1674)GAG>CAG p.E558Q ARHGAP26_uc003lmt.2_Missense_Mutation_p.E558Q|ARHGAP26_uc003lmw.2_Missense_Mutation_p.E558Q NM_015071 NP_055886 Q9UNA1 RHG26_HUMAN GTPase regulator associated with the focal 558 Rho-GAP. actin cytoskeleton organization|filopodium assembly|nervous system development|small GTPase mediated signal transduction cytoskeleton|cytosol|focal adhesion cytoskeletal adaptor activity|Rho GTPase activator activity|SH3 domain binding ovary(1) 1 all_hematologic(541;0.0416) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) CATTGTCATTGAGATCCTAAT 0.443 NA 10 35 0 0 0 0 FBXO38 81545 broad.mit.edu 37 5 147807315 147807315 + Missense_Mutation SNP C C G TCGA-CV-7414-01A-11D-2078-08 TCGA-CV-7414-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7137f980-5301-4b18-9664-d887eaced75e 1d18702d-756c-4764-92d5-6ffbd598cc90 g.chr5:147807315C>G uc003lpf.1 + 15 2578 c.2458C>G c.(2458-2460)CTG>GTG p.L820V FBXO38_uc003lpg.1_Intron|FBXO38_uc003lph.2_Intron NM_205836 NP_995308 Q6PIJ6 FBX38_HUMAN F-box protein 38 isoform b 820 cytoplasm|nucleus ovary(4)|skin(2) 6 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CTTTAGGACTCTGCCACAAGG 0.577 NA 13 4 0 0 0 0 FOXI1 2299 broad.mit.edu 37 5 169532981 169532981 + Missense_Mutation SNP C C T TCGA-CV-7414-01A-11D-2078-08 TCGA-CV-7414-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7137f980-5301-4b18-9664-d887eaced75e 1d18702d-756c-4764-92d5-6ffbd598cc90 g.chr5:169532981C>T uc003mai.3 + 1 65 c.20C>T c.(19-21)CCG>CTG p.P7L FOXI1_uc003maj.3_Missense_Mutation_p.P7L NM_012188 NP_036320 Q12951 FOXI1_HUMAN forkhead box I1 isoform a 7 Pro-rich. epidermal cell fate specification|otic placode formation|pattern specification process|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|transcription regulatory region DNA binding breast(3)|central_nervous_system(1) 4 Renal(175;0.000159)|Lung NSC(126;0.0267)|all_lung(126;0.04) Medulloblastoma(196;0.0109)|all_neural(177;0.0298) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) TTCGACCTGCCGGCGCCCTCC 0.697 NA Pendred_syndrome 8 3 0 0 0 0 HUS1B 135458 broad.mit.edu 37 6 656504 656504 + Silent SNP C C T TCGA-CV-7414-01A-11D-2078-08 TCGA-CV-7414-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7137f980-5301-4b18-9664-d887eaced75e 1d18702d-756c-4764-92d5-6ffbd598cc90 g.chr6:656504C>T uc003mtg.2 - 1 461 c.441G>A c.(439-441)CCG>CCA p.P147P EXOC2_uc003mtd.2_Intron|EXOC2_uc003mte.2_Intron|EXOC2_uc011dho.1_Intron NM_148959 NP_683762 Q8NHY5 HUS1B_HUMAN HUS1 checkpoint protein B 147 0 Ovarian(93;0.0733) Breast(5;0.00139)|all_lung(73;0.0691)|all_hematologic(90;0.0895) OV - Ovarian serous cystadenocarcinoma(45;0.041)|BRCA - Breast invasive adenocarcinoma(62;0.0965) GCAGGCTGGGCGGCAGGCAGT 0.716 NA 15 24 0 0 0 0 DSP 1832 broad.mit.edu 37 6 7569532 7569532 + Silent SNP C C T TCGA-CV-7414-01A-11D-2078-08 TCGA-CV-7414-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7137f980-5301-4b18-9664-d887eaced75e 1d18702d-756c-4764-92d5-6ffbd598cc90 g.chr6:7569532C>T uc003mxp.1 + 12 1812 c.1533C>T c.(1531-1533)ATC>ATT p.I511I DSP_uc003mxq.1_Silent_p.I511I NM_004415 NP_004406 P15924 DESP_HUMAN desmoplakin isoform I 511 Globular 1.|Interacts with plakophilin 1 and junction plakoglobin. 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) TGGGGCTGATCATCCCTCCTC 0.577 NA 21 45 0 0 0 0 MRS2 57380 broad.mit.edu 37 6 24409763 24409763 + Missense_Mutation SNP A A G TCGA-CV-7414-01A-11D-2078-08 TCGA-CV-7414-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7137f980-5301-4b18-9664-d887eaced75e 1d18702d-756c-4764-92d5-6ffbd598cc90 g.chr6:24409763A>G uc003neb.2 + 4 498 c.376A>G c.(376-378)ATC>GTC p.I126V MRS2_uc003nea.2_Missense_Mutation_p.I126V|MRS2_uc011djl.1_Missense_Mutation_p.I126V|MRS2_uc011djm.1_RNA|MRS2_uc011djn.1_Intron|MRS2_uc003nec.2_Missense_Mutation_p.I3V NM_020662 NP_065713 Q9HD23 MRS2_HUMAN MRS2-like, magnesium homeostasis factor 126 Mitochondrial matrix (Potential). ion transport integral to membrane|mitochondrial inner membrane 0 TGTAATGAGTATCACAGTCAG 0.313 NA 22 39 0 0 0 0 FAM65B 9750 broad.mit.edu 37 6 24843781 24843781 + Nonsense_Mutation SNP G G C TCGA-CV-7414-01A-11D-2078-08 TCGA-CV-7414-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7137f980-5301-4b18-9664-d887eaced75e 1d18702d-756c-4764-92d5-6ffbd598cc90 g.chr6:24843781G>C uc003neo.1 - 14 1405 c.1229C>G c.(1228-1230)TCA>TGA p.S410* FAM65B_uc011djs.1_Nonsense_Mutation_p.S389*|FAM65B_uc011dju.1_Nonsense_Mutation_p.S394*|FAM65B_uc003nep.2_Nonsense_Mutation_p.S360*|FAM65B_uc011djt.1_Nonsense_Mutation_p.S360* NM_014722 NP_055537 Q9Y4F9 FA65B_HUMAN hypothetical protein LOC9750 isoform 1 410 cell differentiation|muscle organ development cytoskeleton|filopodium|mitochondrion binding ovary(1) 1 AGGTAGATTTGACTATAGATA 0.413 NA 3 17 0 0 0 0 HIST1H4C 8364 broad.mit.edu 37 6 26104378 26104378 + Missense_Mutation SNP G G C TCGA-CV-7414-01A-11D-2078-08 TCGA-CV-7414-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7137f980-5301-4b18-9664-d887eaced75e 1d18702d-756c-4764-92d5-6ffbd598cc90 g.chr6:26104378G>C uc003ngi.2 + 1 203 c.203G>C c.(202-204)CGA>CCA p.R68P NM_003542 NP_003533 P62805 H4_HUMAN histone cluster 1, H4c 68 CenH3-containing nucleosome assembly at centromere|negative regulation of megakaryocyte differentiation|phosphatidylinositol-mediated signaling|telomere maintenance nucleoplasm|nucleosome DNA binding|protein binding 0 AACGTTATTCGAGACGCCGTC 0.527 NA 9 29 0 0 0 0 BRPF3 27154 broad.mit.edu 37 6 36193116 36193116 + Missense_Mutation SNP G G C TCGA-CV-7414-01A-11D-2078-08 TCGA-CV-7414-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7137f980-5301-4b18-9664-d887eaced75e 1d18702d-756c-4764-92d5-6ffbd598cc90 g.chr6:36193116G>C uc003olv.3 + 11 3478 c.3254G>C c.(3253-3255)CGA>CCA p.R1085P BRPF3_uc010jwb.2_Missense_Mutation_p.R815P|BRPF3_uc011dtj.1_RNA|BRPF3_uc010jwc.2_Intron|BRPF3_uc011dtk.1_Missense_Mutation_p.R751P|BRPF3_uc010jwd.2_5'UTR NM_015695 NP_056510 Q9ULD4 BRPF3_HUMAN bromodomain and PHD finger containing, 3 1085 PWWP. histone H3 acetylation|platelet activation|platelet degranulation cytosol|extracellular region|MOZ/MORF histone acetyltransferase complex protein binding|zinc ion binding ovary(1)|skin(1) 2 GCCAAGTGCCGAGGCTACCCC 0.642 NA 4 26 0 0 0 0 KIF6 221458 broad.mit.edu 37 6 39311516 39311516 + Missense_Mutation SNP G G C TCGA-CV-7414-01A-11D-2078-08 TCGA-CV-7414-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7137f980-5301-4b18-9664-d887eaced75e 1d18702d-756c-4764-92d5-6ffbd598cc90 g.chr6:39311516G>C uc003oot.2 - 22 2492 c.2397C>G c.(2395-2397)ATC>ATG p.I799M KIF6_uc003oos.2_Missense_Mutation_p.I250M|KIF6_uc010jwz.1_Missense_Mutation_p.I174M|KIF6_uc010jxa.1_Missense_Mutation_p.I573M|KIF6_uc011dua.1_Missense_Mutation_p.I782M|KIF6_uc010jxb.1_Missense_Mutation_p.I743M NM_145027 NP_659464 Q6ZMV9 KIF6_HUMAN kinesin family member 6 799 microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity|protein binding breast(2)|central_nervous_system(1) 3 GTCTGGCCTTGATGAAGGCGA 0.582 NA 15 35 0 0 0 0 HSP90AB1 3326 broad.mit.edu 37 6 44216418 44216418 + Missense_Mutation SNP C C G TCGA-CV-7414-01A-11D-2078-08 TCGA-CV-7414-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7137f980-5301-4b18-9664-d887eaced75e 1d18702d-756c-4764-92d5-6ffbd598cc90 g.chr6:44216418C>G uc003oxa.1 + 2 136 c.52C>G c.(52-54)CAG>GAG p.Q18E HSP90AB1_uc011dvr.1_Missense_Mutation_p.Q18E|HSP90AB1_uc003oxb.1_Missense_Mutation_p.Q18E|HSP90AB1_uc011dvs.1_5'UTR|HSP90AB1_uc003oxc.1_5'Flank NM_007355 NP_031381 P08238 HS90B_HUMAN heat shock 90kDa protein 1, beta 18 axon guidance|negative regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of nitric oxide biosynthetic process|protein folding|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to unfolded protein cytosol|melanosome ATP binding|nitric-oxide synthase regulator activity|TPR domain binding|unfolded protein binding p.Q18*(1) lung(3)|breast(1) 4 all_cancers(18;1.7e-05)|all_lung(25;0.00747)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273) Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536) TTTTGCCTTTCAGGCAGAAAT 0.423 NA 15 115 0 0 0 0 ELOVL5 60481 broad.mit.edu 37 6 53156755 53156755 + Missense_Mutation SNP C C G TCGA-CV-7414-01A-11D-2078-08 TCGA-CV-7414-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7137f980-5301-4b18-9664-d887eaced75e 1d18702d-756c-4764-92d5-6ffbd598cc90 g.chr6:53156755C>G uc003pbq.1 - 3 513 c.65G>C c.(64-66)AGA>ACA p.R22T ELOVL5_uc003pbr.1_Missense_Mutation_p.R22T|ELOVL5_uc011dwx.1_Missense_Mutation_p.R22T|ELOVL5_uc003pbs.1_Missense_Mutation_p.R22T NM_021814 NP_068586 Q9NYP7 ELOV5_HUMAN elongation of very long chain fatty acids-like 22 fatty acid elongation, monounsaturated fatty acid|fatty acid elongation, polyunsaturated fatty acid|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process|very long-chain fatty acid biosynthetic process endoplasmic reticulum membrane|integral to membrane fatty acid elongase activity|protein binding 0 Lung NSC(77;0.116) TCCTTTTACTCTAGTATCTGa 0.274 NA 30 26 0 0 0 0 DOPEY1 23033 broad.mit.edu 37 6 83863897 83863897 + Splice_Site SNP A A T TCGA-CV-7414-01A-11D-2078-08 TCGA-CV-7414-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7137f980-5301-4b18-9664-d887eaced75e 1d18702d-756c-4764-92d5-6ffbd598cc90 g.chr6:83863897A>T uc003pjs.1 + 33 6650 c.6390_splice c.e33-2 p.H2130_splice DOPEY1_uc011dyy.1_Splice_Site_p.H2121_splice|DOPEY1_uc010kbl.1_Splice_Site_p.H2121_splice|DOPEY1_uc003pjt.2_Splice_Site NM_015018 NP_055833 Q5JWR5 DOP1_HUMAN dopey family member 1 protein transport ovary(2)|breast(1)|central_nervous_system(1) 4 all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203) BRCA - Breast invasive adenocarcinoma(397;0.053) TATCTCTTTCAGTTGGAGAGC 0.363 NA 23 39 0 0 0 0 TSPYL4 23270 broad.mit.edu 37 6 116574228 116574228 + Missense_Mutation SNP T T C TCGA-CV-7414-01A-11D-2078-08 TCGA-CV-7414-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7137f980-5301-4b18-9664-d887eaced75e 1d18702d-756c-4764-92d5-6ffbd598cc90 g.chr6:116574228T>C uc003pwn.2 - 1 1034 c.944A>G c.(943-945)TAT>TGT p.Y315C DSE_uc011ebf.1_5'Flank|TSPYL4_uc011ebe.1_Missense_Mutation_p.Y143C|uc003pwo.1_5'Flank NM_021648 NP_067680 Q9UJ04 TSYL4_HUMAN TSPY-like 4 315 nucleosome assembly nucleus 0 all_cancers(87;0.0144)|all_epithelial(87;0.021)|Colorectal(196;0.234) all cancers(137;0.045)|OV - Ovarian serous cystadenocarcinoma(136;0.0666)|GBM - Glioblastoma multiforme(226;0.095)|Epithelial(106;0.125) TCTGCGTTCATATTCCTTGAC 0.552 NA 17 29 0 0 0 0 GRM1 2911 broad.mit.edu 37 6 146673517 146673517 + Missense_Mutation SNP G G C TCGA-CV-7414-01A-11D-2078-08 TCGA-CV-7414-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7137f980-5301-4b18-9664-d887eaced75e 1d18702d-756c-4764-92d5-6ffbd598cc90 g.chr6:146673517G>C uc010khw.1 + 5 1788 c.1318G>C c.(1318-1320)GAT>CAT p.D440H GRM1_uc010khv.1_Missense_Mutation_p.D440H|GRM1_uc003qll.2_Missense_Mutation_p.D440H|GRM1_uc011edz.1_Missense_Mutation_p.D440H|GRM1_uc011eea.1_Missense_Mutation_p.D440H NM_000838 NP_000829 Q13255 GRM1_HUMAN glutamate receptor, metabotropic 1 isoform alpha 440 Extracellular (Potential). synaptic transmission integral to plasma membrane G-protein coupled receptor activity|glutamate receptor activity lung(8)|ovary(4)|central_nervous_system(3)|large_intestine(2)|breast(2) 19 Ovarian(120;0.0387) OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762) Acamprosate(DB00659)|L-Glutamic Acid(DB00142) GGGCCTCTGCGATGCCATGAA 0.547 NA 10 89 0 0 0 0 PNLDC1 154197 broad.mit.edu 37 6 160222146 160222146 + Missense_Mutation SNP C C G TCGA-CV-7414-01A-11D-2078-08 TCGA-CV-7414-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7137f980-5301-4b18-9664-d887eaced75e 1d18702d-756c-4764-92d5-6ffbd598cc90 g.chr6:160222146C>G uc003qsx.1 + 3 274 c.103C>G c.(103-105)CTT>GTT p.L35V PNLDC1_uc003qsy.1_Missense_Mutation_p.L46V NM_173516 NP_775787 Q8NA58 PNDC1_HUMAN poly(A)-specific ribonuclease (PARN)-like domain 35 Cytoplasmic (Potential). integral to membrane|nucleus nucleic acid binding 0 Breast(66;0.00519)|Ovarian(120;0.123) OV - Ovarian serous cystadenocarcinoma(65;1.55e-18)|BRCA - Breast invasive adenocarcinoma(81;5.87e-06) TGTTCACAGTCTTTTTGATTT 0.483 NA 5 117 0 0 0 0 MAP3K4 4216 broad.mit.edu 37 6 161469773 161469773 + Missense_Mutation SNP C C G TCGA-CV-7414-01A-11D-2078-08 TCGA-CV-7414-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7137f980-5301-4b18-9664-d887eaced75e 1d18702d-756c-4764-92d5-6ffbd598cc90 g.chr6:161469773C>G uc003qtn.2 + 3 611 c.469C>G c.(469-471)CAT>GAT p.H157D MAP3K4_uc010kkc.1_Missense_Mutation_p.R157G|MAP3K4_uc003qto.2_Missense_Mutation_p.H157D|MAP3K4_uc011efz.1_RNA|MAP3K4_uc011ega.1_Translation_Start_Site NM_005922 NP_005913 Q9Y6R4 M3K4_HUMAN mitogen-activated protein kinase kinase kinase 4 157 activation of MAPKK activity|JNK cascade|positive regulation of JUN kinase activity perinuclear region of cytoplasm ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein binding ovary(3)|lung(3)|skin(2)|stomach(1) 9 Breast(66;0.000776)|Ovarian(120;0.0367)|Prostate(117;0.0771) OV - Ovarian serous cystadenocarcinoma(65;1.85e-18)|BRCA - Breast invasive adenocarcinoma(81;3.04e-05) AGAGCGTGATCGTAAAAAAAA 0.403 NA 7 75 0 0 0 0 DLL1 28514 broad.mit.edu 37 6 170592437 170592437 + Missense_Mutation SNP C C T TCGA-CV-7414-01A-11D-2078-08 TCGA-CV-7414-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7137f980-5301-4b18-9664-d887eaced75e 1d18702d-756c-4764-92d5-6ffbd598cc90 g.chr6:170592437C>T uc003qxm.2 - 9 2400 c.1930G>A c.(1930-1932)GTG>ATG p.V644M NM_005618 NP_005609 O00548 DLL1_HUMAN delta-like 1 precursor 644 Cytoplasmic (Potential). cell communication|cell fate determination|hemopoiesis|Notch receptor processing|Notch signaling pathway|regulation of cell adhesion extracellular region|integral to plasma membrane calcium ion binding|Notch binding lung(4)|ovary(1) 5 Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246) OV - Ovarian serous cystadenocarcinoma(33;6.71e-23)|BRCA - Breast invasive adenocarcinoma(81;4.81e-06)|GBM - Glioblastoma multiforme(31;0.0584) AGGTCCTGCACGAGGTTATAG 0.627 NA 28 57 0 0 0 0 ETV1 2115 broad.mit.edu 37 7 14027742 14027742 + Silent SNP G G A TCGA-CV-7414-01A-11D-2078-08 TCGA-CV-7414-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7137f980-5301-4b18-9664-d887eaced75e 1d18702d-756c-4764-92d5-6ffbd598cc90 g.chr7:14027742G>A uc011jxq.1 - 4 841 c.102C>T c.(100-102)TTC>TTT p.F34F ETV1_uc011jxn.1_5'Flank|ETV1_uc011jxo.1_5'Flank|ETV1_uc011jxp.1_5'Flank|ETV1_uc003ssw.3_Silent_p.F34F|ETV1_uc003ssx.2_RNA|ETV1_uc011jxr.1_Silent_p.F34F|ETV1_uc011jxs.1_Silent_p.F34F|ETV1_uc010ktv.2_5'Flank NM_004956 NP_004947 P50549 ETV1_HUMAN ets variant gene 1 isoform a 34 transcription from RNA polymerase II promoter nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity TMPRSS2/ETV1(24)|EWSR1/ETV1(7) prostate(24)|soft_tissue(4)|bone(3)|lung(2)|central_nervous_system(1)|ovary(1) 35 CTCTGTTAATGAATTTTCTTT 0.378 NA T EWSR1|TMPRSS2|SLC45A3|C15orf21|HNRNPA2B1. ACSL3 Ewing sarcoma|prostate 4 36 0 0 0 0 DNAH11 8701 broad.mit.edu 37 7 21745088 21745088 + Missense_Mutation SNP T T G TCGA-CV-7414-01A-11D-2078-08 TCGA-CV-7414-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7137f980-5301-4b18-9664-d887eaced75e 1d18702d-756c-4764-92d5-6ffbd598cc90 g.chr7:21745088T>G uc003svc.2 + 40 6531 c.6500T>G c.(6499-6501)CTT>CGT p.L2167R NM_003777 NP_003768 Q96DT5 DYH11_HUMAN dynein, axonemal, heavy chain 11 2167 AAA 2 (By similarity). microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity ovary(8)|large_intestine(3)|pancreas(3)|central_nervous_system(1) 15 GTTGTCCAGCTTGAGGAACTG 0.433 NA Kartagener_syndrome 7 12 0 0 0 0 FZD9 8326 broad.mit.edu 37 7 72849813 72849813 + Silent SNP A A G TCGA-CV-7414-01A-11D-2078-08 TCGA-CV-7414-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7137f980-5301-4b18-9664-d887eaced75e 1d18702d-756c-4764-92d5-6ffbd598cc90 g.chr7:72849813A>G uc003tyb.2 + 1 1705 c.1476A>G c.(1474-1476)GGA>GGG p.G492G NM_003508 NP_003499 O00144 FZD9_HUMAN frizzled 9 precursor 492 Extracellular (Potential). B cell differentiation|brain development|canonical Wnt receptor signaling pathway|embryo development|gonad development|neuroblast proliferation|vasculature development cell surface|filopodium membrane|integral to membrane|perinuclear region of cytoplasm G-protein coupled receptor activity|PDZ domain binding|protein heterodimerization activity|protein homodimerization activity|Wnt receptor activity|Wnt-protein binding central_nervous_system(1) 1 Lung NSC(55;0.0659)|all_lung(88;0.152) CGGGGCCCGGAGGCCGGAGGG 0.652 NA 4 40 0 0 0 0 GTF2IRD1 9569 broad.mit.edu 37 7 73952488 73952488 + Missense_Mutation SNP G G A TCGA-CV-7414-01A-11D-2078-08 TCGA-CV-7414-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7137f980-5301-4b18-9664-d887eaced75e 1d18702d-756c-4764-92d5-6ffbd598cc90 g.chr7:73952488G>A uc003uaq.2 + 12 1825 c.1432G>A c.(1432-1434)GAA>AAA p.E478K GTF2IRD1_uc010lbq.2_Missense_Mutation_p.E510K|GTF2IRD1_uc003uap.2_Missense_Mutation_p.E478K|GTF2IRD1_uc003uar.1_Missense_Mutation_p.E478K NM_016328 NP_057412 Q9UHL9 GT2D1_HUMAN GTF2I repeat domain containing 1 isoform 1 478 nucleus DNA binding|protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity ovary(4) 4 CAGCATGTCTGAAGACTGTGG 0.642 NA 5 65 0 0 0 0 CACNA2D1 781 broad.mit.edu 37 7 81964507 81964507 + Missense_Mutation SNP C C G TCGA-CV-7414-01A-11D-2078-08 TCGA-CV-7414-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7137f980-5301-4b18-9664-d887eaced75e 1d18702d-756c-4764-92d5-6ffbd598cc90 g.chr7:81964507C>G uc003uhr.1 - 3 494 c.238G>C c.(238-240)GAA>CAA p.E80Q NM_000722 NP_000713 P54289 CA2D1_HUMAN calcium channel, voltage-dependent, alpha 80 Extracellular (Potential). voltage-gated calcium channel complex metal ion binding ovary(5)|pancreas(1) 6 Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115) GCTGCAATTTCTACCAGCTGG 0.343 NA 57 106 0 0 0 0 PCLO 27445 broad.mit.edu 37 7 82595320 82595320 + Missense_Mutation SNP G G A TCGA-CV-7414-01A-11D-2078-08 TCGA-CV-7414-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7137f980-5301-4b18-9664-d887eaced75e 1d18702d-756c-4764-92d5-6ffbd598cc90 g.chr7:82595320G>A uc003uhx.2 - 4 4073 c.3784C>T c.(3784-3786)CAT>TAT p.H1262Y PCLO_uc003uhv.2_Missense_Mutation_p.H1262Y NM_033026 NP_149015 Q9Y6V0 PCLO_HUMAN piccolo isoform 1 1201 cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity ovary(7) 7 AGTAAGTCATGTTTCTGTTCT 0.418 NA 74 96 0 0 0 0 C7orf63 79846 broad.mit.edu 37 7 89929196 89929196 + Missense_Mutation SNP T T A TCGA-CV-7414-01A-11D-2078-08 TCGA-CV-7414-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7137f980-5301-4b18-9664-d887eaced75e 1d18702d-756c-4764-92d5-6ffbd598cc90 g.chr7:89929196T>A uc010lep.2 + 17 2124 c.1873T>A c.(1873-1875)TTC>ATC p.F625I C7orf63_uc003ukf.2_RNA|C7orf63_uc003ukg.2_Missense_Mutation_p.F300I|C7orf63_uc011khj.1_Missense_Mutation_p.F607I|C7orf63_uc011khk.1_Missense_Mutation_p.F187I NM_001039706 NP_001034795 A5D8W1 CG063_HUMAN hypothetical protein LOC79846 isoform 1 625 binding ovary(1) 1 CCAAAAAAAATTCTGTAATCT 0.323 NA 8 10 0 0 0 0 FAM133B 257415 broad.mit.edu 37 7 92195342 92195342 + Nonsense_Mutation SNP G G A TCGA-CV-7414-01A-11D-2078-08 TCGA-CV-7414-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7137f980-5301-4b18-9664-d887eaced75e 1d18702d-756c-4764-92d5-6ffbd598cc90 g.chr7:92195342G>A uc003umc.2 - 10 744 c.643C>T c.(643-645)CGA>TGA p.R215* FAM133B_uc003umb.2_Nonsense_Mutation_p.R205*|FAM133B_uc003umd.2_RNA NM_152789 NP_690002 Q5BKY9 F133B_HUMAN hypothetical protein LOC257415 isoform 1 215 Lys-rich. p.R215Q(1) ovary(1) 1 all_cancers(62;7.39e-11)|all_epithelial(64;7.03e-10)|Breast(17;0.00201)|all_lung(186;0.0384)|Lung NSC(181;0.053)|all_hematologic(106;0.237) STAD - Stomach adenocarcinoma(4;6.16e-07)|GBM - Glioblastoma multiforme(5;9.78e-06)|all cancers(6;1.67e-05)|Epithelial(20;0.113)|LUSC - Lung squamous cell carcinoma(200;0.225)|Lung(22;0.23) GCTTTTTCTCGTTCTTCACTG 0.323 NA 11 16 0 0 0 0 SPDYE3 441272 broad.mit.edu 37 7 99917593 99917593 + Missense_Mutation SNP G G C TCGA-CV-7414-01A-11D-2078-08 TCGA-CV-7414-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7137f980-5301-4b18-9664-d887eaced75e 1d18702d-756c-4764-92d5-6ffbd598cc90 g.chr7:99917593G>C uc003uug.1 + 5 739 c.499G>C c.(499-501)GAT>CAT p.D167H uc011kjm.1_5'Flank NM_001004351 NP_001004351 A6NKU9 SPDE3_HUMAN speedy homolog E3 544 0 GTGGGCGCGAGATCGCGCCCA 0.582 NA 9 59 0 0 0 0 MUC17 140453 broad.mit.edu 37 7 100686712 100686712 + Silent SNP G G A TCGA-CV-7414-01A-11D-2078-08 TCGA-CV-7414-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7137f980-5301-4b18-9664-d887eaced75e 1d18702d-756c-4764-92d5-6ffbd598cc90 g.chr7:100686712G>A uc003uxp.1 + 3 12068 c.12015G>A c.(12013-12015)GTG>GTA p.V4005V MUC17_uc010lho.1_RNA NM_001040105 NP_001035194 Q685J3 MUC17_HUMAN mucin 17 precursor 4005 Extracellular (Potential). extracellular region|integral to membrane|plasma membrane extracellular matrix constituent, lubricant activity ovary(14)|skin(8)|breast(3)|lung(2) 27 Lung NSC(181;0.136)|all_lung(186;0.182) TCACATATGTGACCATGTCTA 0.488 NA 11 318 0 0 0 0 MUC17 140453 broad.mit.edu 37 7 100686943 100686943 + Silent SNP G G A TCGA-CV-7414-01A-11D-2078-08 TCGA-CV-7414-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7137f980-5301-4b18-9664-d887eaced75e 1d18702d-756c-4764-92d5-6ffbd598cc90 g.chr7:100686943G>A uc003uxp.1 + 3 12299 c.12246G>A c.(12244-12246)ACG>ACA p.T4082T MUC17_uc010lho.1_RNA NM_001040105 NP_001035194 Q685J3 MUC17_HUMAN mucin 17 precursor 4082 Extracellular (Potential). extracellular region|integral to membrane|plasma membrane extracellular matrix constituent, lubricant activity ovary(14)|skin(8)|breast(3)|lung(2) 27 Lung NSC(181;0.136)|all_lung(186;0.182) CCTCCTCCACGACTGTGAACC 0.572 NA 40 280 0 0 0 0 PLOD3 8985 broad.mit.edu 37 7 100855553 100855553 + Missense_Mutation SNP C C T TCGA-CV-7414-01A-11D-2078-08 TCGA-CV-7414-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7137f980-5301-4b18-9664-d887eaced75e 1d18702d-756c-4764-92d5-6ffbd598cc90 g.chr7:100855553C>T uc003uyd.2 - 10 1564 c.1108G>A c.(1108-1110)GAG>AAG p.E370K PLOD3_uc010lhs.2_5'UTR NM_001084 NP_001075 O60568 PLOD3_HUMAN procollagen-lysine, 2-oxoglutarate 5-dioxygenase 370 protein modification process rough endoplasmic reticulum membrane iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-lysine 5-dioxygenase activity|protein binding ovary(1)|skin(1) 2 Lung NSC(181;0.168)|all_lung(186;0.215) Succinic acid(DB00139)|Vitamin C(DB00126) TCCCTGGCCTCGCCTGGGCTC 0.667 NA 23 165 0 0 0 0 PLOD3 8985 broad.mit.edu 37 7 100859523 100859523 + Missense_Mutation SNP C C G TCGA-CV-7414-01A-11D-2078-08 TCGA-CV-7414-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7137f980-5301-4b18-9664-d887eaced75e 1d18702d-756c-4764-92d5-6ffbd598cc90 g.chr7:100859523C>G uc003uyd.2 - 4 879 c.423G>C c.(421-423)GAG>GAC p.E141D ZNHIT1_uc003uye.2_5'Flank|ZNHIT1_uc003uyf.2_5'Flank NM_001084 NP_001075 O60568 PLOD3_HUMAN procollagen-lysine, 2-oxoglutarate 5-dioxygenase 141 protein modification process rough endoplasmic reticulum membrane iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-lysine 5-dioxygenase activity|protein binding ovary(1)|skin(1) 2 Lung NSC(181;0.168)|all_lung(186;0.215) Succinic acid(DB00139)|Vitamin C(DB00126) AGCAGAAGCTCTCTGCAGAGA 0.637 NA 17 97 0 0 0 0 KIAA1549 57670 broad.mit.edu 37 7 138602191 138602191 + Silent SNP G G A TCGA-CV-7414-01A-11D-2078-08 TCGA-CV-7414-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7137f980-5301-4b18-9664-d887eaced75e 1d18702d-756c-4764-92d5-6ffbd598cc90 g.chr7:138602191G>A uc011kql.1 - 2 2230 c.2181C>T c.(2179-2181)CTC>CTT p.L727L KIAA1549_uc003vuk.3_Silent_p.L677L|KIAA1549_uc011kqj.1_Silent_p.L727L NM_020910 NP_065961 Q9HCM3 K1549_HUMAN hypothetical protein LOC57670 isoform 1 727 Ser-rich. integral to membrane KIAA1549/BRAF(229) central_nervous_system(229)|pancreas(1) 230 CAACAAACTCGAGAGAATCAG 0.468 NA O BRAF pilocytic astrocytoma 4 26 0 0 0 0 ASH2L 9070 broad.mit.edu 37 8 37964677 37964677 + Missense_Mutation SNP G G C TCGA-CV-7414-01A-11D-2078-08 TCGA-CV-7414-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7137f980-5301-4b18-9664-d887eaced75e 1d18702d-756c-4764-92d5-6ffbd598cc90 g.chr8:37964677G>C uc003xkt.3 + 3 452 c.394G>C c.(394-396)GAT>CAT p.D132H ASH2L_uc011lbk.1_Intron|ASH2L_uc003xku.3_Missense_Mutation_p.D38H|ASH2L_uc010lwa.2_Missense_Mutation_p.D38H NM_004674 NP_004665 Q9UBL3 ASH2L_HUMAN ash2-like isoform a 132 C4-type. hemopoiesis|histone H3-K4 methylation|positive regulation of cell proliferation|regulation of transcription, DNA-dependent|response to estrogen stimulus|transcription from RNA polymerase II promoter Set1C/COMPASS complex metal ion binding|protein binding|transcription regulatory region DNA binding ovary(1)|lung(1) 2 Colorectal(12;0.000501) Lung NSC(58;0.0295)|all_lung(54;0.0413) ATTTGGCATAGATACCTCGTG 0.433 NA 12 228 0 0 0 0 WHSC1L1 54904 broad.mit.edu 37 8 38172976 38172976 + Silent SNP C C T TCGA-CV-7414-01A-11D-2078-08 TCGA-CV-7414-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7137f980-5301-4b18-9664-d887eaced75e 1d18702d-756c-4764-92d5-6ffbd598cc90 g.chr8:38172976C>T uc003xli.2 - 11 2591 c.2073G>A c.(2071-2073)TCG>TCA p.S691S WHSC1L1_uc011lbm.1_Silent_p.S691S|WHSC1L1_uc010lwe.2_Silent_p.S691S NM_023034 NP_075447 Q9BZ95 NSD3_HUMAN WHSC1L1 protein isoform long 691 cell differentiation|cell growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome histone-lysine N-methyltransferase activity|zinc ion binding breast(1) 1 Colorectal(12;0.000442)|Esophageal squamous(3;0.0725) all_lung(54;0.00787)|Lung NSC(58;0.0295)|Hepatocellular(245;0.065) Epithelial(3;3.12e-43)|all cancers(3;1.72e-38)|BRCA - Breast invasive adenocarcinoma(5;2.84e-27)|LUSC - Lung squamous cell carcinoma(2;2.79e-25)|Lung(2;5.03e-23)|COAD - Colon adenocarcinoma(9;0.0511) TGCCTCTTCTCGACAAACTTG 0.428 NA T NUP98 AML 29 271 0 0 0 0 CEBPD 1052 broad.mit.edu 37 8 48650425 48650425 + Silent SNP G G A TCGA-CV-7414-01A-11D-2078-08 TCGA-CV-7414-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7137f980-5301-4b18-9664-d887eaced75e 1d18702d-756c-4764-92d5-6ffbd598cc90 g.chr8:48650425G>A uc003xqh.1 - 1 302 c.258C>T c.(256-258)TTC>TTT p.F86F KIAA0146_uc003xqg.1_Intron NM_005195 NP_005186 P49716 CEBPD_HUMAN CCAAT/enhancer binding protein delta 86 transcription from RNA polymerase II promoter nucleus protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity 0 all_cancers(86;0.0782)|Lung NSC(58;0.00363)|all_epithelial(80;0.0042)|all_lung(54;0.00914) GATTGCTGTTGAAGAGGTCGG 0.612 NA 5 5 0 0 0 0 PXDNL 137902 broad.mit.edu 37 8 52320812 52320812 + Missense_Mutation SNP C C G TCGA-CV-7414-01A-11D-2078-08 TCGA-CV-7414-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7137f980-5301-4b18-9664-d887eaced75e 1d18702d-756c-4764-92d5-6ffbd598cc90 g.chr8:52320812C>G uc003xqu.3 - 17 3473 c.3372G>C c.(3370-3372)CAG>CAC p.Q1124H PXDNL_uc003xqt.3_RNA NM_144651 NP_653252 A1KZ92 PXDNL_HUMAN peroxidasin homolog-like precursor 1124 hydrogen peroxide catabolic process extracellular space heme binding|peroxidase activity ovary(1)|pancreas(1) 2 all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015) AGAAGAGCCTCTGGGTCAGCT 0.577 NA 11 64 0 0 0 0 NSMAF 8439 broad.mit.edu 37 8 59511881 59511881 + Missense_Mutation SNP T T C TCGA-CV-7414-01A-11D-2078-08 TCGA-CV-7414-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7137f980-5301-4b18-9664-d887eaced75e 1d18702d-756c-4764-92d5-6ffbd598cc90 g.chr8:59511881T>C uc003xtt.2 - 19 1709 c.1495A>G c.(1495-1497)AGC>GGC p.S499G NSMAF_uc011lee.1_Missense_Mutation_p.S530G NM_003580 NP_003571 Q92636 FAN_HUMAN neutral sphingomyelinase (N-SMase) activation 499 BEACH. ceramide metabolic process cytoplasm|soluble fraction protein binding|receptor signaling protein activity ovary(1) 1 all_lung(136;0.174)|Lung NSC(129;0.2) ACATAATTGCTTTCCAATGCA 0.393 NA 49 73 0 0 0 0 CSPP1 79848 broad.mit.edu 37 8 68071344 68071344 + Missense_Mutation SNP G G C TCGA-CV-7414-01A-11D-2078-08 TCGA-CV-7414-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7137f980-5301-4b18-9664-d887eaced75e 1d18702d-756c-4764-92d5-6ffbd598cc90 g.chr8:68071344G>C uc003xxi.2 + 21 2631 c.2600G>C c.(2599-2601)AGA>ACA p.R867T CSPP1_uc003xxh.1_RNA|CSPP1_uc003xxj.2_Missense_Mutation_p.R832T|CSPP1_uc003xxk.2_Missense_Mutation_p.R487T NM_001077204 NP_001070672 Q1MSJ5 CSPP1_HUMAN centrosome spindle pole associated protein 1 867 centrosome|microtubule|spindle ovary(3)|breast(2) 5 Breast(64;0.214) Lung NSC(129;0.0908)|all_lung(136;0.152) Epithelial(68;0.00145)|OV - Ovarian serous cystadenocarcinoma(28;0.00589)|all cancers(69;0.0069)|BRCA - Breast invasive adenocarcinoma(89;0.153) TACTGTGAAAGAGACAATTTG 0.279 NA 8 107 0 0 0 0 FAM92A1 137392 broad.mit.edu 37 8 94740469 94740469 + Missense_Mutation SNP G G A TCGA-CV-7414-01A-11D-2078-08 TCGA-CV-7414-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7137f980-5301-4b18-9664-d887eaced75e 1d18702d-756c-4764-92d5-6ffbd598cc90 g.chr8:94740469G>A uc010maq.2 + 8 917 c.814G>A c.(814-816)GAA>AAA p.E272K FAM92A1_uc003yfv.3_RNA|FAM92A1_uc003yfx.3_RNA|FAM92A1_uc003yfw.3_RNA|FAM92A1_uc010mar.2_Missense_Mutation_p.E79K NM_145269 NP_660312 A1XBS5 F92A1_HUMAN hypothetical protein LOC137392 272 0 Breast(36;2.4e-06) BRCA - Breast invasive adenocarcinoma(8;0.0168) TCAACAAGCAGAAGATGATGA 0.279 NA 5 46 0 0 0 0 KIAA1429 25962 broad.mit.edu 37 8 95550492 95550492 + Missense_Mutation SNP C C G TCGA-CV-7414-01A-11D-2078-08 TCGA-CV-7414-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7137f980-5301-4b18-9664-d887eaced75e 1d18702d-756c-4764-92d5-6ffbd598cc90 g.chr8:95550492C>G uc003ygo.1 - 3 275 c.262G>C c.(262-264)GGA>CGA p.G88R KIAA1429_uc003ygp.2_Missense_Mutation_p.G88R NM_015496 NP_056311 Q69YN4 VIR_HUMAN hypothetical protein LOC25962 isoform 1 88 mRNA processing|RNA splicing nucleus ovary(1)|skin(1) 2 Breast(36;3.29e-05) BRCA - Breast invasive adenocarcinoma(8;0.00185) ACATACCTTCCCAACCTATCG 0.368 NA 21 38 0 0 0 0 MTDH 92140 broad.mit.edu 37 8 98735238 98735238 + Missense_Mutation SNP G G C TCGA-CV-7414-01A-11D-2078-08 TCGA-CV-7414-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7137f980-5301-4b18-9664-d887eaced75e 1d18702d-756c-4764-92d5-6ffbd598cc90 g.chr8:98735238G>C uc003yhz.2 + 11 1981 c.1653G>C c.(1651-1653)AAG>AAC p.K551N MTDH_uc010mbf.2_RNA NM_178812 NP_848927 Q86UE4 LYRIC_HUMAN metadherin 551 Cytoplasmic (Potential). lipopolysaccharide-mediated signaling pathway|negative regulation of apoptosis|negative regulation of transcription from RNA polymerase II promoter|positive regulation of angiogenesis|positive regulation of autophagy|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of protein kinase B signaling cascade apical plasma membrane|endoplasmic reticulum membrane|integral to membrane|intercellular canaliculus|nuclear body|nuclear membrane|nucleolus|perinuclear region of cytoplasm|tight junction NF-kappaB binding|RNA polymerase II transcription factor binding|transcription coactivator activity liver(1)|central_nervous_system(1) 2 Breast(36;2.56e-06) OV - Ovarian serous cystadenocarcinoma(57;0.178) CAAATACCAAGCAAAATAGTG 0.373 NA 32 95 0 0 0 0 VPS13B 157680 broad.mit.edu 37 8 100847876 100847876 + Silent SNP A A G TCGA-CV-7414-01A-11D-2078-08 TCGA-CV-7414-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7137f980-5301-4b18-9664-d887eaced75e 1d18702d-756c-4764-92d5-6ffbd598cc90 g.chr8:100847876A>G uc003yiv.2 + 54 10038 c.9927A>G c.(9925-9927)TTA>TTG p.L3309L VPS13B_uc003yiw.2_Silent_p.L3284L NM_017890 NP_060360 Q7Z7G8 VP13B_HUMAN vacuolar protein sorting 13B isoform 5 3309 protein transport ovary(7)|skin(4)|lung(3)|central_nervous_system(2)|pancreas(2)|breast(1)|kidney(1) 20 Breast(36;3.73e-07) OV - Ovarian serous cystadenocarcinoma(57;0.00636) CCAAAGACTTACTTCCAAGCC 0.428 NA 21 48 0 0 0 0 PABPC1 26986 broad.mit.edu 37 8 101733737 101733737 + Silent SNP C C G TCGA-CV-7414-01A-11D-2078-08 TCGA-CV-7414-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7137f980-5301-4b18-9664-d887eaced75e 1d18702d-756c-4764-92d5-6ffbd598cc90 g.chr8:101733737C>G uc003yjs.1 - 1 579 c.75G>C c.(73-75)GCG>GCC p.A25A PABPC1_uc011lhc.1_Silent_p.A25A|PABPC1_uc011lhd.1_Intron|PABPC1_uc003yjt.1_Silent_p.A25A|PABPC1_uc003yju.2_RNA NM_002568 NP_002559 P11940 PABP1_HUMAN poly(A) binding protein, cytoplasmic 1 25 RRM 1. mRNA polyadenylation|mRNA stabilization|negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening|translation catalytic step 2 spliceosome|cytosol nucleotide binding|poly(A) RNA binding|protein C-terminus binding|translation activator activity 0 all_cancers(14;6.8e-05)|all_epithelial(15;3.16e-07)|Lung NSC(17;0.000453)|all_lung(17;0.00125) Epithelial(11;6.37e-11)|all cancers(13;1.11e-08)|OV - Ovarian serous cystadenocarcinoma(57;3.91e-05)|STAD - Stomach adenocarcinoma(118;0.206) CGTAGAGCATCGCCTCGGTCA 0.672 NA 7 43 0 0 0 0 KLF10 7071 broad.mit.edu 37 8 103664280 103664280 + Missense_Mutation SNP G G C TCGA-CV-7414-01A-11D-2078-08 TCGA-CV-7414-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7137f980-5301-4b18-9664-d887eaced75e 1d18702d-756c-4764-92d5-6ffbd598cc90 g.chr8:103664280G>C uc011lhk.1 - 3 434 c.280C>G c.(280-282)CCA>GCA p.P94A KLF10_uc011lhj.1_Missense_Mutation_p.P83A NM_005655 NP_005646 Q13118 KLF10_HUMAN Kruppel-like factor 10 isoform a 94 cell proliferation|cell-cell signaling|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|skeletal system development|transforming growth factor beta receptor signaling pathway nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding 0 all_epithelial(15;5.63e-07)|Lung NSC(17;8.18e-05)|all_lung(17;0.000169) OV - Ovarian serous cystadenocarcinoma(57;0.000112)|STAD - Stomach adenocarcinoma(118;0.0826) CTGTAAGGTGGAGTCAAACAC 0.343 NA OREG0018913 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 42 32 0 0 0 0 CSMD3 114788 broad.mit.edu 37 8 114031357 114031357 + Silent SNP G G A TCGA-CV-7414-01A-11D-2078-08 TCGA-CV-7414-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7137f980-5301-4b18-9664-d887eaced75e 1d18702d-756c-4764-92d5-6ffbd598cc90 g.chr8:114031357G>A uc003ynu.2 - 6 1128 c.969C>T c.(967-969)CTC>CTT p.L323L CSMD3_uc003ynt.2_Silent_p.L283L|CSMD3_uc011lhx.1_Silent_p.L323L|CSMD3_uc010mcx.1_Silent_p.L323L NM_198123 NP_937756 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 isoform 1 323 Extracellular (Potential).|CUB 2. 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 AATGCAGTCTGAGCCAGTTTT 0.353 NA HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 6 115 0 0 0 0 ZC3H3 23144 broad.mit.edu 37 8 144621302 144621302 + Missense_Mutation SNP G G A TCGA-CV-7414-01A-11D-2078-08 TCGA-CV-7414-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7137f980-5301-4b18-9664-d887eaced75e 1d18702d-756c-4764-92d5-6ffbd598cc90 g.chr8:144621302G>A uc003yyd.2 - 2 264 c.235C>T c.(235-237)CGG>TGG p.R79W NM_015117 NP_055932 Q8IXZ2 ZC3H3_HUMAN zinc finger CCCH-type containing 3 79 mRNA polyadenylation|poly(A)+ mRNA export from nucleus|regulation of mRNA export from nucleus nucleus nucleic acid binding|zinc ion binding skin(1) 1 all_cancers(97;8.64e-11)|all_epithelial(106;6.43e-09)|Lung NSC(106;0.000202)|all_lung(105;0.000548)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155) Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.107) CCCGGGGGCCGATTCACGAGG 0.672 NA 62 46 0 0 0 0 ZNF251 90987 broad.mit.edu 37 8 145947498 145947498 + Missense_Mutation SNP C C T TCGA-CV-7414-01A-11D-2078-08 TCGA-CV-7414-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7137f980-5301-4b18-9664-d887eaced75e 1d18702d-756c-4764-92d5-6ffbd598cc90 g.chr8:145947498C>T uc003zdv.3 - 5 1803 c.1547G>A c.(1546-1548)CGT>CAT p.R516H NM_138367 NP_612376 Q9BRH9 ZN251_HUMAN zinc finger protein 251 516 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 all_cancers(97;3.54e-11)|all_epithelial(106;2.65e-10)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;2.75e-39)|Epithelial(56;7.54e-38)|all cancers(56;6.19e-33)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.11) GBM - Glioblastoma multiforme(99;0.198) TCTGCACTTACGAGTCTCTCC 0.532 NA 28 62 0 0 0 0 CDKN2A 1029 broad.mit.edu 37 9 21971029 21971029 + Nonsense_Mutation SNP C C T TCGA-CV-7414-01A-11D-2078-08 TCGA-CV-7414-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7137f980-5301-4b18-9664-d887eaced75e 1d18702d-756c-4764-92d5-6ffbd598cc90 g.chr9:21971029C>T uc003zpk.2 - 2 541 c.329G>A c.(328-330)TGG>TAG p.W110* MTAP_uc003zpi.1_Intron|CDKN2A_uc003zpj.2_3'UTR|CDKN2A_uc010miu.2_RNA|CDKN2A_uc003zpl.2_Silent_p.L165L NM_000077 NP_000068 P42771 CD2A1_HUMAN cyclin-dependent kinase inhibitor 2A isoform 1 110 ANK 4. cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence cytosol|nucleus cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein binding|protein kinase binding p.0?(1112)|p.W110*(38)|p.?(13)|p.H83fs*2(2)|p.W110fs*9(1)|p.D105fs*8(1)|p.A68fs*3(1)|p.R107fs*33(1)|p.W110fs*36(1)|p.W110C(1) haematopoietic_and_lymphoid_tissue(647)|skin(419)|upper_aerodigestive_tract(414)|central_nervous_system(381)|lung(325)|pancreas(244)|oesophagus(230)|urinary_tract(225)|pleura(94)|liver(91)|soft_tissue(79)|bone(77)|ovary(76)|biliary_tract(71)|stomach(46)|breast(46)|kidney(39)|NS(28)|thyroid(24)|cervix(23)|meninges(18)|genital_tract(15)|endometrium(13)|prostate(11)|autonomic_ganglia(10)|salivary_gland(10)|large_intestine(9)|adrenal_gland(6)|eye(4)|vulva(2)|small_intestine(1) 3678 all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172) all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05) CAGACGGCCCCAGGCATCGCG 0.731 17 Uveal_Melanoma_Familial|Familial_Malignant_Melanoma_and_Tumors_of_the_Nervous_System|Hereditary_Melanoma HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07) 26 7 0 0 0 0 FAM75A6 389730 broad.mit.edu 37 9 43628678 43628678 + Silent SNP C C G TCGA-CV-7414-01A-11D-2078-08 TCGA-CV-7414-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7137f980-5301-4b18-9664-d887eaced75e 1d18702d-756c-4764-92d5-6ffbd598cc90 g.chr9:43628678C>G uc011lrb.1 - 3 293 c.264G>C c.(262-264)CCG>CCC p.P88P NM_001145196 NP_001138668 Q5VVP1 F75A6_HUMAN hypothetical protein LOC389730 88 integral to membrane 0 CCAGGCCTCTCGGGCACTCTC 0.587 NA 30 21 0 0 0 0 GNAQ 2776 broad.mit.edu 37 9 80537224 80537224 + Silent SNP C C T TCGA-CV-7414-01A-11D-2078-08 TCGA-CV-7414-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7137f980-5301-4b18-9664-d887eaced75e 1d18702d-756c-4764-92d5-6ffbd598cc90 g.chr9:80537224C>T uc004akw.2 - 2 215 c.174G>A c.(172-174)CAG>CAA p.Q58Q NM_002072 NP_002063 P50148 GNAQ_HUMAN guanine nucleotide binding protein (G protein), 58 activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|glutamate signaling pathway|negative regulation of protein kinase activity|platelet activation|protein ADP-ribosylation|protein stabilization|regulation of action potential|regulation of catenin import into nucleus cytoplasm|heterotrimeric G-protein complex G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activator activity|GTPase activity|signal transducer activity eye(136)|skin(44)|meninges(11)|ovary(1)|kidney(1) 193 TGATTCTCATCTGCTTGATAA 0.463 NA Mis uveal melanoma 66 82 0 0 0 0 COL27A1 85301 broad.mit.edu 37 9 117015171 117015171 + Missense_Mutation SNP A A C TCGA-CV-7414-01A-11D-2078-08 TCGA-CV-7414-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7137f980-5301-4b18-9664-d887eaced75e 1d18702d-756c-4764-92d5-6ffbd598cc90 g.chr9:117015171A>C uc011lxl.1 + 27 3100 c.3100A>C c.(3100-3102)ATG>CTG p.M1034L COL27A1_uc004bii.2_RNA NM_032888 NP_116277 Q8IZC6 CORA1_HUMAN collagen, type XXVII, alpha 1 precursor 1034 Pro-rich.|Collagen-like 7.|Triple-helical region. cell adhesion extracellular matrix structural constituent ovary(3)|skin(1) 4 TCATCCTGGAATGCCAGGTGG 0.552 NA 21 31 0 0 0 0 TNC 3371 broad.mit.edu 37 9 117797486 117797486 + Silent SNP G G C TCGA-CV-7414-01A-11D-2078-08 TCGA-CV-7414-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7137f980-5301-4b18-9664-d887eaced75e 1d18702d-756c-4764-92d5-6ffbd598cc90 g.chr9:117797486G>C uc004bjj.3 - 22 6146 c.5784C>G c.(5782-5784)GTC>GTG p.V1928V TNC_uc010mvf.2_Silent_p.V1655V NM_002160 NP_002151 P24821 TENA_HUMAN tenascin C precursor 1928 Fibronectin type-III 15. cell adhesion|response to wounding|signal transduction extracellular space receptor binding|syndecan binding central_nervous_system(4)|upper_aerodigestive_tract(1)|ovary(1)|skin(1) 7 AAAATACCTTGACTGTGCCAT 0.468 NA 8 73 0 0 0 0 CDK5RAP2 55755 broad.mit.edu 37 9 123169396 123169396 + Silent SNP G G C TCGA-CV-7414-01A-11D-2078-08 TCGA-CV-7414-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7137f980-5301-4b18-9664-d887eaced75e 1d18702d-756c-4764-92d5-6ffbd598cc90 g.chr9:123169396G>C uc004bkf.2 - 32 5038 c.4857C>G c.(4855-4857)CTC>CTG p.L1619L CDK5RAP2_uc010mvi.2_Silent_p.L628L|CDK5RAP2_uc004bke.2_Silent_p.L904L|CDK5RAP2_uc004bkg.2_Intron|CDK5RAP2_uc011lxw.1_Silent_p.L884L|CDK5RAP2_uc011lxx.1_RNA|CDK5RAP2_uc011lxy.1_RNA|CDK5RAP2_uc011lxz.1_Silent_p.L884L|CDK5RAP2_uc011lya.1_Silent_p.L884L|CDK5RAP2_uc004bkh.1_Silent_p.L1389L|CDK5RAP2_uc004bki.2_3'UTR NM_018249 NP_060719 Q96SN8 CK5P2_HUMAN CDK5 regulatory subunit associated protein 2 1619 brain development|centrosome organization|chromosome segregation|G2/M transition of mitotic cell cycle|microtubule bundle formation|negative regulation of centriole replication|positive regulation of transcription, DNA-dependent|regulation of neuron differentiation|regulation of spindle checkpoint cytosol|Golgi apparatus|microtubule|pericentriolar material|perinuclear region of cytoplasm|spindle pole calmodulin binding|microtubule binding|neuronal Cdc2-like kinase binding|transcription regulatory region DNA binding ovary(2)|lung(1)|skin(1) 4 GCTGTTCCTTGAGCCTGCTCT 0.592 NA 18 56 0 0 0 0 PTGS1 5742 broad.mit.edu 37 9 125154519 125154519 + Missense_Mutation SNP C C T TCGA-CV-7414-01A-11D-2078-08 TCGA-CV-7414-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7137f980-5301-4b18-9664-d887eaced75e 1d18702d-756c-4764-92d5-6ffbd598cc90 g.chr9:125154519C>T uc004bmg.1 + 11 1631 c.1496C>T c.(1495-1497)GCG>GTG p.A499V PTGS1_uc011lys.1_Missense_Mutation_p.A437V|PTGS1_uc010mwb.1_Missense_Mutation_p.A353V|PTGS1_uc004bmf.1_Missense_Mutation_p.A462V|PTGS1_uc004bmh.1_Missense_Mutation_p.A390V|PTGS1_uc011lyt.1_Missense_Mutation_p.A390V NM_000962 NP_000953 P23219 PGH1_HUMAN prostaglandin-endoperoxide synthase 1 isoform 1 499 cyclooxygenase pathway|hormone biosynthetic process|regulation of blood pressure|response to oxidative stress|xenobiotic metabolic process endoplasmic reticulum membrane|Golgi apparatus|microsome|plasma membrane heme binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peroxidase activity|prostaglandin-endoperoxide synthase activity ovary(1)|skin(1) 2 Acetaminophen(DB00316)|Aspirin(DB00945)|Balsalazide(DB01014)|Bromfenac(DB00963)|Ciclopirox(DB01188)|Diclofenac(DB00586)|Diflunisal(DB00861)|Dipyrone(DB04817)|Etodolac(DB00749)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|gamma-Homolinolenic acid(DB00154)|Ibuprofen(DB01050)|Icosapent(DB00159)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lumiracoxib(DB01283)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Mesalazine(DB00244)|Minoxidil(DB00350)|Nabumetone(DB00461)|Naproxen(DB00788)|Phenacetin(DB03783)|Piroxicam(DB00554)|Rofecoxib(DB00533)|Salicyclic acid(DB00936)|Salsalate(DB01399)|Sulindac(DB00605)|Suprofen(DB00870)|Tenoxicam(DB00469)|Tolmetin(DB00500) GACATTGATGCGTTGGAGTTC 0.468 NA 5 57 0 0 0 0 GOLGA2 2801 broad.mit.edu 37 9 131022404 131022404 + Missense_Mutation SNP C C G TCGA-CV-7414-01A-11D-2078-08 TCGA-CV-7414-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7137f980-5301-4b18-9664-d887eaced75e 1d18702d-756c-4764-92d5-6ffbd598cc90 g.chr9:131022404C>G uc011maw.1 - 18 1755 c.1742G>C c.(1741-1743)GGA>GCA p.G581A GOLGA2_uc010mxw.2_Intron|GOLGA2_uc004buh.2_Missense_Mutation_p.G54A NM_004486 NP_004477 Q08379 GOGA2_HUMAN Golgi autoantigen, golgin subfamily a, 2 581 Potential. Golgi cisterna membrane protein binding ovary(1) 1 CAGCTTCTTTCCCAGCTCCCT 0.612 NA 7 124 0 0 0 0 NUP188 23511 broad.mit.edu 37 9 131745290 131745290 + Missense_Mutation SNP C C G TCGA-CV-7414-01A-11D-2078-08 TCGA-CV-7414-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7137f980-5301-4b18-9664-d887eaced75e 1d18702d-756c-4764-92d5-6ffbd598cc90 g.chr9:131745290C>G uc004bws.1 + 17 1801 c.1779C>G c.(1777-1779)ATC>ATG p.I593M NUP188_uc004bwu.2_5'Flank NM_015354 NP_056169 Q5SRE5 NU188_HUMAN nucleoporin 188kDa 593 carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction nuclear pore protein binding ovary(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)|kidney(1)|breast(1) 7 CATCTCGCATCTACATGCTGC 0.532 NA 40 65 0 0 0 0 SETX 23064 broad.mit.edu 37 9 135204799 135204799 + Missense_Mutation SNP C C G TCGA-CV-7414-01A-11D-2078-08 TCGA-CV-7414-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7137f980-5301-4b18-9664-d887eaced75e 1d18702d-756c-4764-92d5-6ffbd598cc90 g.chr9:135204799C>G uc004cbk.2 - 10 2369 c.2186G>C c.(2185-2187)AGA>ACA p.R729T SETX_uc004cbj.2_Missense_Mutation_p.R348T|SETX_uc010mzt.2_Missense_Mutation_p.R348T NM_015046 NP_055861 Q7Z333 SETX_HUMAN senataxin 729 cell death|double-strand break repair|RNA processing cytoplasm|nucleolus|nucleoplasm ATP binding|DNA helicase activity ovary(2)|skin(1) 3 Myeloproliferative disorder(178;0.204) OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171) TGGACCATTTCTTGAAGTACA 0.363 NA 9 106 0 0 0 0 FAM9B 171483 broad.mit.edu 37 X 8995923 8995923 + Missense_Mutation SNP C C G TCGA-CV-7414-01A-11D-2078-08 TCGA-CV-7414-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7137f980-5301-4b18-9664-d887eaced75e 1d18702d-756c-4764-92d5-6ffbd598cc90 g.chrX:8995923C>G uc011mhu.1 - 6 567 c.478G>C c.(478-480)GAC>CAC p.D160H FAM9B_uc011mhv.1_RNA|FAM9B_uc004csh.2_Missense_Mutation_p.D200H NM_205849 NP_995321 Q8IZU0 FAM9B_HUMAN family with sequence similarity 9, member B 160 nucleus 0 Hepatocellular(5;0.219) ACGAATTGGTCACGTAGCAGC 0.358 NA 4 30 0 0 0 0 CXorf21 80231 broad.mit.edu 37 X 30578057 30578057 + Nonsense_Mutation SNP G G T TCGA-CV-7414-01A-11D-2078-08 TCGA-CV-7414-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7137f980-5301-4b18-9664-d887eaced75e 1d18702d-756c-4764-92d5-6ffbd598cc90 g.chrX:30578057G>T uc004dcg.1 - 3 692 c.416C>A c.(415-417)TCA>TAA p.S139* NM_025159 NP_079435 Q9HAI6 CX021_HUMAN hypothetical protein LOC80231 139 ovary(1) 1 TGTTGTCACTGAATTAATGGC 0.433 NA 36 9 4.23e-30 4.56e-30 1 0 AR 367 broad.mit.edu 37 X 66905872 66905872 + Missense_Mutation SNP G G A rs137852569 TCGA-CV-7414-01A-11D-2078-08 TCGA-CV-7414-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7137f980-5301-4b18-9664-d887eaced75e 1d18702d-756c-4764-92d5-6ffbd598cc90 g.chrX:66905872G>A uc004dwu.1 + 3 2904 c.1789G>A c.(1789-1791)GCC>ACC p.A597T AR_uc011mpd.1_Missense_Mutation_p.A597T|AR_uc011mpe.1_RNA|AR_uc011mpf.1_Missense_Mutation_p.A597T|AR_uc004dwv.1_Missense_Mutation_p.A65T NM_000044 NP_000035 P10275 ANDR_HUMAN androgen receptor isoform 1 596 NR C4-type.|Interaction with HIPK3 (By similarity).|Nuclear receptor. A -> T (in AIS; abolishes dimerization). cell death|cell growth|cell proliferation|cell-cell signaling|negative regulation of apoptosis|negative regulation of integrin biosynthetic process|positive regulation of cell proliferation|positive regulation of integrin biosynthetic process|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphorylation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|regulation of establishment of protein localization in plasma membrane|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transport cytoplasm|nuclear chromatin|nucleoplasm androgen binding|androgen receptor activity|beta-catenin binding|enzyme binding|ligand-regulated transcription factor activity|protein dimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding ovary(3)|lung(2)|breast(2)|central_nervous_system(1) 8 all_cancers(1;0.173)|Prostate(1;2.27e-16)|all_epithelial(1;0.102) all_lung(315;1.3e-11) Bicalutamide(DB01128)|Cyproterone(DB04839)|Dromostanolone(DB00858)|Finasteride(DB01216)|Fluoxymesterone(DB01185)|Flutamide(DB00499)|Nandrolone(DB00984)|Nilutamide(DB00665)|Oxandrolone(DB00621)|Testosterone(DB00624) GTACCTGTGCGCCAGCAGAAA 0.413 NA Androgen_Insensitivity_Syndrome 3 33 0 0 0 0 KIAA2022 340533 broad.mit.edu 37 X 73964209 73964209 + Silent SNP G G A TCGA-CV-7414-01A-11D-2078-08 TCGA-CV-7414-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7137f980-5301-4b18-9664-d887eaced75e 1d18702d-756c-4764-92d5-6ffbd598cc90 g.chrX:73964209G>A uc004eby.2 - 3 800 c.183C>T c.(181-183)CCC>CCT p.P61P NM_001008537 NP_001008537 Q5QGS0 K2022_HUMAN hypothetical protein LOC340533 61 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 GGAGACCTCTGGGATACATCA 0.537 NA 3 9 0 0 0 0 PKN1 5585 broad.mit.edu 37 19 14562741 14562741 + Frame_Shift_Del DEL C C - TCGA-CV-7414-01A-11D-2078-08 TCGA-CV-7414-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7137f980-5301-4b18-9664-d887eaced75e 1d18702d-756c-4764-92d5-6ffbd598cc90 g.chr19:14562741delC uc002myp.2 + 7 1239 c.1071delC c.(1069-1071)CGCfs p.R357fs PKN1_uc002myq.2_Frame_Shift_Del_p.R363fs NM_002741 NP_002732 Q16512 PKN1_HUMAN protein kinase N1 isoform 2 357 C2. activation of JUN kinase activity|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription, DNA-dependent endosome|nucleus|plasma membrane androgen receptor binding|ATP binding|chromatin binding|GTP-Rho binding|histone binding|histone deacetylase binding|histone kinase activity (H3-T11 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding|Rac GTPase binding ovary(2)|breast(2)|skin(2)|large_intestine(1)|central_nervous_system(1) 8 CAGACAGCCGCCCCCCCTTCC 0.667 NA 11 10 --- --- --- --- NA NA NA NA FAT1 2195 broad.mit.edu 37 4 187539265 187539266 + Frame_Shift_Ins INS - - C TCGA-CV-7414-01A-11D-2078-08 TCGA-CV-7414-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7137f980-5301-4b18-9664-d887eaced75e 1d18702d-756c-4764-92d5-6ffbd598cc90 g.chr4:187539265_187539266insC uc003izf.2 - 10 8662_8663 c.8474_8475insG c.(8473-8475)GGAfs p.G2825fs NM_005245 NP_005236 Q14517 FAT1_HUMAN FAT tumor suppressor 1 precursor 2825 Extracellular (Potential).|Cadherin 26. actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm calcium ion binding|protein binding ovary(10)|central_nervous_system(1)|pancreas(1) 12 TTACTCTACTTCCCCCTGGCAG 0.436 NA HNSCC(5;0.00058) 29 24 --- --- --- --- NA NA NA NA