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 PRAMEF11 440560 broad.mit.edu 37 1 12887612 12887612 + Missense_Mutation SNP T T C rs60558629 TCGA-CV-7407-01A-11D-2078-08 TCGA-CV-7407-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 94631dc8-6dcb-49ed-bb68-e1a57a65f1cb 1ef9d6ea-cd89-4b1f-b699-623bc0293b99 g.chr1:12887612T>C uc001auk.2 - 3 441 c.245A>G c.(244-246)CAT>CGT p.H82R NM_001146344 NP_001139816 O60813 PRA11_HUMAN PRAME family member 11 82 0 GAAGCACCCATGGGCCATAGC 0.488 NA 6 258 0 0 0 0 PLEKHM2 23207 broad.mit.edu 37 1 16059015 16059015 + Nonsense_Mutation SNP C C G TCGA-CV-7407-01A-11D-2078-08 TCGA-CV-7407-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 94631dc8-6dcb-49ed-bb68-e1a57a65f1cb 1ef9d6ea-cd89-4b1f-b699-623bc0293b99 g.chr1:16059015C>G uc010obo.1 + 18 3023 c.2796C>G c.(2794-2796)TAC>TAG p.Y932* NM_015164 NP_055979 Q8IWE5 PKHM2_HUMAN pleckstrin homology domain containing, family M 932 Golgi organization cytoplasm kinesin binding ovary(1) 1 Colorectal(325;0.000259)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.00057)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;9.18e-07)|COAD - Colon adenocarcinoma(227;4.5e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|STAD - Stomach adenocarcinoma(313;0.00774)|READ - Rectum adenocarcinoma(331;0.0657) GCAAGGAGTACTGCGTCTTGG 0.632 NA 8 8 0 0 0 0 COL24A1 255631 broad.mit.edu 37 1 86361734 86361734 + Silent SNP A A G TCGA-CV-7407-01A-11D-2078-08 TCGA-CV-7407-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 94631dc8-6dcb-49ed-bb68-e1a57a65f1cb 1ef9d6ea-cd89-4b1f-b699-623bc0293b99 g.chr1:86361734A>G uc001dlj.2 - 30 2889 c.2847T>C c.(2845-2847)GAT>GAC p.D949D COL24A1_uc001dli.2_Silent_p.D85D|COL24A1_uc010osd.1_Silent_p.D249D|COL24A1_uc001dlk.2_RNA|COL24A1_uc010ose.1_RNA|COL24A1_uc010osf.1_RNA NM_152890 NP_690850 Q17RW2 COOA1_HUMAN collagen, type XXIV, alpha 1 precursor 949 Collagen-like 8. cell adhesion collagen extracellular matrix structural constituent ovary(3)|central_nervous_system(1)|skin(1) 5 all cancers(265;0.0627)|Epithelial(280;0.0689) TTTTTCCTTGATCTCCTTTTT 0.318 NA 10 26 0 0 0 0 LRRC8D 55144 broad.mit.edu 37 1 90400516 90400516 + Missense_Mutation SNP G G C TCGA-CV-7407-01A-11D-2078-08 TCGA-CV-7407-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 94631dc8-6dcb-49ed-bb68-e1a57a65f1cb 1ef9d6ea-cd89-4b1f-b699-623bc0293b99 g.chr1:90400516G>C uc001dnm.2 + 3 2314 c.1889G>C c.(1888-1890)AGC>ACC p.S630T LRRC8D_uc001dnn.2_Missense_Mutation_p.S630T NM_001134479 NP_001127951 Q7L1W4 LRC8D_HUMAN leucine rich repeat containing 8 family, member 630 LRR 5. integral to membrane protein binding ovary(2) 2 all_lung(203;0.0894)|Lung NSC(277;0.227) all cancers(265;0.0109)|Epithelial(280;0.0427) GTACTGAACAGCCTTAAGAAA 0.418 NA 6 65 0 0 0 0 PSMB4 5692 broad.mit.edu 37 1 151373789 151373789 + Nonsense_Mutation SNP C C A TCGA-CV-7407-01A-11D-2078-08 TCGA-CV-7407-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 94631dc8-6dcb-49ed-bb68-e1a57a65f1cb 1ef9d6ea-cd89-4b1f-b699-623bc0293b99 g.chr1:151373789C>A uc001eyc.1 + 5 674 c.651C>A c.(649-651)TGC>TGA p.C217* PSMB4_uc010pda.1_3'UTR|PSMB4_uc001eyb.1_3'UTR NM_002796 NP_002787 P28070 PSB4_HUMAN proteasome beta 4 subunit 217 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction cytoplasm|nucleus|proteasome core complex threonine-type endopeptidase activity ovary(2) 2 Lung SC(34;0.00471)|Ovarian(49;0.00871)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181) TAGAACGCTGCATGCGAGTGC 0.577 NA 25 146 3.08e-08 3.45e-08 1 0 SMCP 4184 broad.mit.edu 37 1 152856943 152856943 + Silent SNP C C T TCGA-CV-7407-01A-11D-2078-08 TCGA-CV-7407-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 94631dc8-6dcb-49ed-bb68-e1a57a65f1cb 1ef9d6ea-cd89-4b1f-b699-623bc0293b99 g.chr1:152856943C>T uc001fat.2 + 2 190 c.45C>T c.(43-45)GGC>GGT p.G15G NM_030663 NP_109588 P49901 MCSP_HUMAN sperm mitochondria-associated cysteine-rich 15 2.|7 X 7 (OR 8) AA approximate repeats. penetration of zona pellucida|sperm motility mitochondrial membrane 0 Lung NSC(65;3.97e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.171) CAGCAAAAGGCAATCAATGCT 0.458 NA 16 48 0 0 0 0 PRCC 5546 broad.mit.edu 37 1 156756890 156756890 + Missense_Mutation SNP C C T TCGA-CV-7407-01A-11D-2078-08 TCGA-CV-7407-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 94631dc8-6dcb-49ed-bb68-e1a57a65f1cb 1ef9d6ea-cd89-4b1f-b699-623bc0293b99 g.chr1:156756890C>T uc001fqa.2 + 3 1297 c.1007C>T c.(1006-1008)CCT>CTT p.P336L PRCC_uc001fqb.2_Missense_Mutation_p.P336L NM_005973 NP_005964 Q92733 PRCC_HUMAN papillary renal cell carcinoma 336 cell cycle|mitotic cell cycle checkpoint nucleus protein binding PRCC/TFE3(25) kidney(25)|central_nervous_system(2) 27 all_hematologic(923;0.0839)|Hepatocellular(266;0.158) CCTTGGATGCCTAAGCCTGGG 0.572 NA T TFE3 papillary renal 89 181 0 0 0 0 CD1D 912 broad.mit.edu 37 1 158152716 158152716 + Missense_Mutation SNP G G A TCGA-CV-7407-01A-11D-2078-08 TCGA-CV-7407-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 94631dc8-6dcb-49ed-bb68-e1a57a65f1cb 1ef9d6ea-cd89-4b1f-b699-623bc0293b99 g.chr1:158152716G>A uc001frr.2 + 5 1155 c.656G>A c.(655-657)CGT>CAT p.R219H CD1D_uc009wss.2_Intron NM_001766 NP_001757 P15813 CD1D_HUMAN CD1D antigen precursor 219 Ig-like.|Extracellular (Potential). antigen processing and presentation, endogenous lipid antigen via MHC class Ib|detection of bacterium|innate immune response|interspecies interaction between organisms|positive regulation of innate immune response|T cell selection endosome membrane|integral to plasma membrane|lysosomal membrane beta-2-microglobulin binding|exogenous lipid antigen binding|histone binding ovary(1) 1 all_hematologic(112;0.0378) GGCCCTGGCCGTCTGCTGCTG 0.592 NA 12 95 0 0 0 0 ARHGAP30 257106 broad.mit.edu 37 1 161018149 161018149 + Missense_Mutation SNP C C A TCGA-CV-7407-01A-11D-2078-08 TCGA-CV-7407-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 94631dc8-6dcb-49ed-bb68-e1a57a65f1cb 1ef9d6ea-cd89-4b1f-b699-623bc0293b99 g.chr1:161018149C>A uc001fxl.2 - 12 3008 c.2662G>T c.(2662-2664)GTA>TTA p.V888L USF1_uc001fxi.2_5'Flank|USF1_uc001fxj.2_5'Flank|ARHGAP30_uc001fxk.2_Intron|ARHGAP30_uc001fxm.2_Missense_Mutation_p.V734L|ARHGAP30_uc009wtx.2_Missense_Mutation_p.V561L NM_001025598 NP_001020769 Q7Z6I6 RHG30_HUMAN Rho GTPase activating protein 30 isoform 1 888 Glu-rich. 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) TGTGGGGCTACCTCTTCCATC 0.587 NA 16 34 1.57e-10 1.79e-10 1 0 POGK 57645 broad.mit.edu 37 1 166818317 166818317 + Silent SNP G G A TCGA-CV-7407-01A-11D-2078-08 TCGA-CV-7407-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 94631dc8-6dcb-49ed-bb68-e1a57a65f1cb 1ef9d6ea-cd89-4b1f-b699-623bc0293b99 g.chr1:166818317G>A uc001gdt.1 + 5 621 c.501G>A c.(499-501)GGG>GGA p.G167G POGK_uc010ple.1_Silent_p.G82G|POGK_uc010plf.1_Silent_p.G49G NM_017542 NP_060012 Q9P215 POGK_HUMAN pogo transposable element with KRAB domain 167 multicellular organismal development|regulation of transcription, DNA-dependent nucleus DNA binding ovary(1) 1 GGAGTGAGGGGTACCCCTTCT 0.577 NA 9 54 0 0 0 0 F5 2153 broad.mit.edu 37 1 169511310 169511310 + Missense_Mutation SNP A A C TCGA-CV-7407-01A-11D-2078-08 TCGA-CV-7407-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 94631dc8-6dcb-49ed-bb68-e1a57a65f1cb 1ef9d6ea-cd89-4b1f-b699-623bc0293b99 g.chr1:169511310A>C uc001ggg.1 - 13 3163 c.3018T>G c.(3016-3018)CAT>CAG p.H1006Q NM_000130 NP_000121 P12259 FA5_HUMAN coagulation factor V precursor 1006 B. cell adhesion|platelet activation|platelet degranulation plasma membrane|platelet alpha granule lumen copper ion binding|oxidoreductase activity ovary(3)|large_intestine(1)|central_nervous_system(1)|skin(1) 6 all_hematologic(923;0.208) Drotrecogin alfa(DB00055) GTAGAGATTTATGTCTAACTC 0.463 NA 17 209 0 0 0 0 FMO1 2326 broad.mit.edu 37 1 171249964 171249964 + Nonsense_Mutation SNP C C T TCGA-CV-7407-01A-11D-2078-08 TCGA-CV-7407-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 94631dc8-6dcb-49ed-bb68-e1a57a65f1cb 1ef9d6ea-cd89-4b1f-b699-623bc0293b99 g.chr1:171249964C>T uc009wvz.2 + 6 803 c.667C>T c.(667-669)CGA>TGA p.R223* FMO1_uc010pme.1_Nonsense_Mutation_p.R160*|FMO1_uc001ghl.2_Nonsense_Mutation_p.R223*|FMO1_uc001ghm.2_Nonsense_Mutation_p.R223*|FMO1_uc001ghn.2_Nonsense_Mutation_p.R223* NM_002021 NP_002012 Q01740 FMO1_HUMAN flavin containing monooxygenase 1 223 NADPH oxidation|organic acid metabolic process|toxin metabolic process|xenobiotic metabolic process endoplasmic reticulum lumen|integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding skin(1) 1 all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181) GGTGATCAGCCGAATCTTTGA 0.517 NA 3 48 0 0 0 0 SLC26A9 115019 broad.mit.edu 37 1 205888028 205888028 + Silent SNP G G A TCGA-CV-7407-01A-11D-2078-08 TCGA-CV-7407-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 94631dc8-6dcb-49ed-bb68-e1a57a65f1cb 1ef9d6ea-cd89-4b1f-b699-623bc0293b99 g.chr1:205888028G>A uc001hdq.2 - 19 2310 c.2196C>T c.(2194-2196)GAC>GAT p.D732D SLC26A9_uc001hdm.2_5'Flank|SLC26A9_uc001hdn.2_5'Flank|SLC26A9_uc001hdo.2_Silent_p.D400D|SLC26A9_uc001hdp.2_Silent_p.D732D NM_052934 NP_443166 Q7LBE3 S26A9_HUMAN solute carrier family 26, member 9 isoform a 732 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) AGAGGACTGCGTCATGTATGC 0.522 NA OREG0014164 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 53 259 0 0 0 0 SERTAD4 56256 broad.mit.edu 37 1 210415025 210415025 + Missense_Mutation SNP G G C TCGA-CV-7407-01A-11D-2078-08 TCGA-CV-7407-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 94631dc8-6dcb-49ed-bb68-e1a57a65f1cb 1ef9d6ea-cd89-4b1f-b699-623bc0293b99 g.chr1:210415025G>C uc001hhy.2 + 4 593 c.414G>C c.(412-414)AGG>AGC p.R138S SERTAD4_uc009xcw.2_Missense_Mutation_p.R138S NM_019605 NP_062551 Q9NUC0 SRTD4_HUMAN SERTA domain containing 4 138 SERTA. protein binding ovary(1)|pancreas(1) 2 OV - Ovarian serous cystadenocarcinoma(81;0.0237)|all cancers(67;0.127) TGATGAAAAGGATCCATGGAG 0.428 NA 24 149 0 0 0 0 ANGEL2 90806 broad.mit.edu 37 1 213181634 213181634 + Missense_Mutation SNP T T C TCGA-CV-7407-01A-11D-2078-08 TCGA-CV-7407-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 94631dc8-6dcb-49ed-bb68-e1a57a65f1cb 1ef9d6ea-cd89-4b1f-b699-623bc0293b99 g.chr1:213181634T>C uc001hjz.2 - 3 715 c.560A>G c.(559-561)TAT>TGT p.Y187C ANGEL2_uc010pto.1_Missense_Mutation_p.Y61C|ANGEL2_uc010ptp.1_Missense_Mutation_p.Y61C|ANGEL2_uc001hka.2_Missense_Mutation_p.Y18C|ANGEL2_uc010ptq.1_RNA|ANGEL2_uc001hkb.2_Missense_Mutation_p.Y165C NM_144567 NP_653168 Q5VTE6 ANGE2_HUMAN LOC90806 protein 187 0 OV - Ovarian serous cystadenocarcinoma(81;0.00446)|all cancers(67;0.0169)|Epithelial(68;0.0921)|GBM - Glioblastoma multiforme(131;0.185) GCAATGTCTATAAAGGTGAGA 0.353 NA 20 77 0 0 0 0 SIPA1L2 57568 broad.mit.edu 37 1 232600688 232600688 + Silent SNP T T C TCGA-CV-7407-01A-11D-2078-08 TCGA-CV-7407-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 94631dc8-6dcb-49ed-bb68-e1a57a65f1cb 1ef9d6ea-cd89-4b1f-b699-623bc0293b99 g.chr1:232600688T>C uc001hvg.2 - 7 2876 c.2718A>G c.(2716-2718)GGA>GGG p.G906G SIPA1L2_uc001hvf.2_5'Flank NM_020808 NP_065859 Q9P2F8 SI1L2_HUMAN signal-induced proliferation-associated 1 like 906 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) TACTCACTAATCCAGATGTCC 0.428 NA 44 43 0 0 0 0 AKT3 10000 broad.mit.edu 37 1 243809217 243809217 + Missense_Mutation SNP G G C TCGA-CV-7407-01A-11D-2078-08 TCGA-CV-7407-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 94631dc8-6dcb-49ed-bb68-e1a57a65f1cb 1ef9d6ea-cd89-4b1f-b699-623bc0293b99 g.chr1:243809217G>C uc001iab.1 - 4 488 c.407C>G c.(406-408)TCT>TGT p.S136C AKT3_uc001hzz.1_Missense_Mutation_p.S136C NM_005465 NP_005456 Q9Y243 AKT3_HUMAN AKT3 kinase isoform 1 136 signal transduction Golgi apparatus|nucleus|plasma membrane ATP binding|protein binding|protein serine/threonine kinase activity stomach(1)|lung(1)|breast(1)|central_nervous_system(1) 4 all_cancers(71;0.000307)|all_epithelial(71;0.000374)|all_lung(81;0.0323)|Ovarian(71;0.0619)|all_neural(11;0.101)|Lung NSC(105;0.168) all_cancers(173;0.0274) all cancers(7;4.3e-08)|GBM - Glioblastoma multiforme(7;5.12e-06)|OV - Ovarian serous cystadenocarcinoma(106;0.00196) ATGGGTTGTAGAGGCATCCAT 0.383 NA 8 61 0 0 0 0 PLXDC2 84898 broad.mit.edu 37 10 20335831 20335831 + Missense_Mutation SNP A A G TCGA-CV-7407-01A-11D-2078-08 TCGA-CV-7407-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 94631dc8-6dcb-49ed-bb68-e1a57a65f1cb 1ef9d6ea-cd89-4b1f-b699-623bc0293b99 g.chr10:20335831A>G uc001iqg.1 + 3 995 c.358A>G c.(358-360)ATA>GTA p.I120V PLXDC2_uc001iqh.1_Intron NM_032812 NP_116201 Q6UX71 PXDC2_HUMAN plexin domain containing 2 precursor 120 Extracellular (Potential). integral to membrane ovary(2)|central_nervous_system(1)|skin(1) 4 TATATCTCGAATATATGGTCC 0.328 NA 11 88 0 0 0 0 GPR158 57512 broad.mit.edu 37 10 25861578 25861578 + Missense_Mutation SNP G G T TCGA-CV-7407-01A-11D-2078-08 TCGA-CV-7407-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 94631dc8-6dcb-49ed-bb68-e1a57a65f1cb 1ef9d6ea-cd89-4b1f-b699-623bc0293b99 g.chr10:25861578G>T uc001isj.2 + 7 1575 c.1515G>T c.(1513-1515)AGG>AGT p.R505S NM_020752 NP_065803 Q5T848 GP158_HUMAN G protein-coupled receptor 158 precursor 505 Helical; Name=3; (Potential). integral to membrane|plasma membrane G-protein coupled receptor activity ovary(4)|large_intestine(2)|pancreas(1)|skin(1) 8 GCTTTTCTAGGGTTTTGAAGG 0.368 NA 12 67 1.58e-08 1.78e-08 1 0 PPYR1 5540 broad.mit.edu 37 10 47087866 47087866 + Silent SNP C C A TCGA-CV-7407-01A-11D-2078-08 TCGA-CV-7407-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 94631dc8-6dcb-49ed-bb68-e1a57a65f1cb 1ef9d6ea-cd89-4b1f-b699-623bc0293b99 g.chr10:47087866C>A uc001jee.2 + 3 1502 c.1083C>A c.(1081-1083)GTC>GTA p.V361V ANXA8_uc001jed.3_Intron|PPYR1_uc009xna.2_Silent_p.V361V NM_005972 NP_005963 P50391 NPY4R_HUMAN pancreatic polypeptide receptor 1 361 Cytoplasmic (Potential). blood circulation|digestion|feeding behavior integral to plasma membrane ovary(1)|skin(1) 2 ATACGGAAGTCTCCAAAGGGT 0.567 NA 21 108 0.00465635 0.00487513 1 0 GDF10 2662 broad.mit.edu 37 10 48428782 48428782 + Silent SNP C C T TCGA-CV-7407-01A-11D-2078-08 TCGA-CV-7407-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 94631dc8-6dcb-49ed-bb68-e1a57a65f1cb 1ef9d6ea-cd89-4b1f-b699-623bc0293b99 g.chr10:48428782C>T uc001jfb.2 - 2 1560 c.1104G>A c.(1102-1104)AAG>AAA p.K368K GDF10_uc009xnp.2_Silent_p.K367K|GDF10_uc009xnq.1_Silent_p.K368K NM_004962 NP_004953 P55107 BMP3B_HUMAN growth differentiation factor 10 precursor 368 growth|skeletal system development|transforming growth factor beta receptor signaling pathway extracellular space cytokine activity|growth factor activity lung(1)|central_nervous_system(1) 2 CATCCCACTGCTTCCTCCGGG 0.572 NA 26 39 0 0 0 0 NRAP 4892 broad.mit.edu 37 10 115365978 115365978 + Missense_Mutation SNP C C T TCGA-CV-7407-01A-11D-2078-08 TCGA-CV-7407-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 94631dc8-6dcb-49ed-bb68-e1a57a65f1cb 1ef9d6ea-cd89-4b1f-b699-623bc0293b99 g.chr10:115365978C>T uc001laj.2 - 33 3930 c.3766G>A c.(3766-3768)GAG>AAG p.E1256K NRAP_uc009xyb.2_Intron|NRAP_uc001lak.2_Missense_Mutation_p.E1221K|NRAP_uc001lal.3_Missense_Mutation_p.E1256K NM_198060 NP_932326 Q86VF7 NRAP_HUMAN nebulin-related anchoring protein isoform S 1256 Nebulin 33. fascia adherens|muscle tendon junction actin binding|muscle alpha-actinin binding|zinc ion binding ovary(6)|central_nervous_system(3)|upper_aerodigestive_tract(1) 10 Colorectal(252;0.0233)|Breast(234;0.188) Epithelial(162;0.00392)|all cancers(201;0.00569) CGGATGAACTCGGGCAGACCC 0.438 NA 20 29 0 0 0 0 MRGPRX3 117195 broad.mit.edu 37 11 18158851 18158851 + Silent SNP G G A TCGA-CV-7407-01A-11D-2078-08 TCGA-CV-7407-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 94631dc8-6dcb-49ed-bb68-e1a57a65f1cb 1ef9d6ea-cd89-4b1f-b699-623bc0293b99 g.chr11:18158851G>A uc001mnu.2 + 3 463 c.102G>A c.(100-102)ACG>ACA p.T34T NM_054031 NP_473372 Q96LB0 MRGX3_HUMAN MAS-related GPR, member X3 34 Helical; Name=1; (Potential). integral to membrane|plasma membrane G-protein coupled receptor activity ovary(1)|pancreas(1) 2 CGGGGCTGACGTGCATCGTTT 0.572 NA 16 103 0 0 0 0 GAS2 2620 broad.mit.edu 37 11 22696395 22696395 + Splice_Site SNP G G A TCGA-CV-7407-01A-11D-2078-08 TCGA-CV-7407-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 94631dc8-6dcb-49ed-bb68-e1a57a65f1cb 1ef9d6ea-cd89-4b1f-b699-623bc0293b99 g.chr11:22696395G>A uc009yie.2 + 2 287 c.-19_splice c.e2-1 GAS2_uc001mqm.2_Splice_Site|GAS2_uc001mqn.2_Splice_Site|GAS2_uc001mqo.2_5'UTR NM_001143830 NP_001137302 O43903 GAS2_HUMAN growth arrest-specific 2 cell cycle arrest|cellular component disassembly involved in apoptosis|regulation of cell shape actin filament|cytosol|membrane ovary(1)|skin(1) 2 TTCCAAAACAGGTATTACAAG 0.418 NA 8 20 0 0 0 0 MRPL16 54948 broad.mit.edu 37 11 59575303 59575303 + Missense_Mutation SNP T T G TCGA-CV-7407-01A-11D-2078-08 TCGA-CV-7407-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 94631dc8-6dcb-49ed-bb68-e1a57a65f1cb 1ef9d6ea-cd89-4b1f-b699-623bc0293b99 g.chr11:59575303T>G uc001noh.2 - 3 355 c.141A>C c.(139-141)AAA>AAC p.K47N NM_017840 NP_060310 Q9NX20 RM16_HUMAN mitochondrial ribosomal protein L16 precursor 47 rRNA binding central_nervous_system(1) 1 TAAGCTTGGGTTTTTCAGGAA 0.368 NA 11 160 0 0 0 0 MS4A15 219995 broad.mit.edu 37 11 60543106 60543106 + Missense_Mutation SNP G G A TCGA-CV-7407-01A-11D-2078-08 TCGA-CV-7407-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 94631dc8-6dcb-49ed-bb68-e1a57a65f1cb 1ef9d6ea-cd89-4b1f-b699-623bc0293b99 g.chr11:60543106G>A uc009ynf.1 + 7 861 c.641G>A c.(640-642)AGC>AAC p.S214N MS4A15_uc001npx.2_Missense_Mutation_p.S121N|MS4A15_uc001npy.2_RNA|MS4A15_uc009yng.1_Missense_Mutation_p.S173N NM_001098835 NP_001092305 Q8N5U1 M4A15_HUMAN membrane-spanning 4-domains, subfamily A, member 214 integral to membrane receptor activity lung(1) 1 AACGCCTTCAGCGCAGACTTC 0.577 NA OREG0020991 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 45 156 0 0 0 0 AHNAK 79026 broad.mit.edu 37 11 62298958 62298958 + Silent SNP G G A TCGA-CV-7407-01A-11D-2078-08 TCGA-CV-7407-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 94631dc8-6dcb-49ed-bb68-e1a57a65f1cb 1ef9d6ea-cd89-4b1f-b699-623bc0293b99 g.chr11:62298958G>A uc001ntl.2 - 5 3231 c.2931C>T c.(2929-2931)GGC>GGT p.G977G AHNAK_uc001ntk.1_Intron NM_001620 NP_001611 Q09666 AHNK_HUMAN AHNAK nucleoprotein isoform 1 977 nervous system development nucleus protein binding ovary(10)|pancreas(4)|skin(4)|upper_aerodigestive_tract(1) 19 Melanoma(852;0.155) CTACTTTTGGGCCTTTCAGGT 0.463 NA 24 104 0 0 0 0 SLC22A12 116085 broad.mit.edu 37 11 64361159 64361159 + Silent SNP T T C TCGA-CV-7407-01A-11D-2078-08 TCGA-CV-7407-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 94631dc8-6dcb-49ed-bb68-e1a57a65f1cb 1ef9d6ea-cd89-4b1f-b699-623bc0293b99 g.chr11:64361159T>C uc001oam.1 + 4 1461 c.714T>C c.(712-714)TCT>TCC p.S238S SLC22A12_uc009ypr.1_Silent_p.S263S|SLC22A12_uc001oal.1_Silent_p.S17S|SLC22A12_uc009yps.1_Silent_p.S204S|SLC22A12_uc001oan.1_Intron|SLC22A12_uc009ypt.2_Silent_p.S56S NM_144585 NP_653186 Q96S37 S22AC_HUMAN urate anion exchanger 1 isoform a 238 Helical; (Potential). cellular homeostasis|response to drug|urate metabolic process apical plasma membrane|brush border membrane|integral to membrane PDZ domain binding|urate transmembrane transporter activity ovary(1) 1 CCTTGAACTCTCTGGGCTTCA 0.642 NA 10 29 0 0 0 0 ALKBH8 91801 broad.mit.edu 37 11 107427562 107427562 + Silent SNP G G A TCGA-CV-7407-01A-11D-2078-08 TCGA-CV-7407-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 94631dc8-6dcb-49ed-bb68-e1a57a65f1cb 1ef9d6ea-cd89-4b1f-b699-623bc0293b99 g.chr11:107427562G>A uc010rvr.1 - 3 372 c.297C>T c.(295-297)ACC>ACT p.T99T ALKBH8_uc010rvq.1_5'UTR|ALKBH8_uc009yxp.2_Silent_p.T99T|ALKBH8_uc001pjl.2_RNA NM_138775 NP_620130 Q96BT7 ALKB8_HUMAN alkB, alkylation repair homolog 8 99 RRM. response to DNA damage stimulus cytosol|nucleus metal ion binding|nucleotide binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors|protein binding|RNA binding|tRNA (uracil) methyltransferase activity 0 Melanoma(852;0.000288)|Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00301)|all_epithelial(67;0.00512)|Breast(348;0.104) BRCA - Breast invasive adenocarcinoma(274;3.53e-05)|Epithelial(105;0.00029)|all cancers(92;0.00518) TTCCATTGAGGGTAACATAGG 0.348 NA 5 33 0 0 0 0 ARHGEF12 23365 broad.mit.edu 37 11 120346103 120346103 + Missense_Mutation SNP A A T TCGA-CV-7407-01A-11D-2078-08 TCGA-CV-7407-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 94631dc8-6dcb-49ed-bb68-e1a57a65f1cb 1ef9d6ea-cd89-4b1f-b699-623bc0293b99 g.chr11:120346103A>T uc001pxl.1 + 33 3171 c.3164A>T c.(3163-3165)GAT>GTT p.D1055V ARHGEF12_uc009zat.2_Missense_Mutation_p.D1036V|ARHGEF12_uc010rzn.1_Missense_Mutation_p.D952V|ARHGEF12_uc009zau.1_Missense_Mutation_p.D952V NM_015313 NP_056128 Q9NZN5 ARHGC_HUMAN Rho guanine nucleotide exchange factor (GEF) 12 1055 PH. apoptosis|axon guidance|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|membrane G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity lung(2)|breast(2)|skin(2)|ovary(1) 7 Breast(109;0.000813)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_hematologic(192;0.107)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.231) AAGCAGGATGATAGACTGGTT 0.333 NA T MLL AML 8 69 0 0 0 0 ROBO3 64221 broad.mit.edu 37 11 124744033 124744033 + Missense_Mutation SNP G G A rs74787566 by1000genomes TCGA-CV-7407-01A-11D-2078-08 TCGA-CV-7407-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 94631dc8-6dcb-49ed-bb68-e1a57a65f1cb 1ef9d6ea-cd89-4b1f-b699-623bc0293b99 g.chr11:124744033G>A uc001qbc.2 + 12 2044 c.1852G>A c.(1852-1854)GGT>AGT p.G618S ROBO3_uc010saq.1_5'Flank|ROBO3_uc001qbd.2_5'Flank|ROBO3_uc010sar.1_5'Flank|ROBO3_uc001qbe.2_5'Flank NM_022370 NP_071765 Q96MS0 ROBO3_HUMAN roundabout, axon guidance receptor, homolog 3 618 Fibronectin type-III 1.|Extracellular (Potential). axon midline choice point recognition integral to membrane receptor activity breast(1)|central_nervous_system(1) 2 all_hematologic(175;0.215) Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|Breast(109;0.0481)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0296) CACAGTCAGCGGTCTGCAGCC 0.587 NA 6 73 0 0 0 0 B4GALNT3 283358 broad.mit.edu 37 12 653525 653525 + Silent SNP G G A TCGA-CV-7407-01A-11D-2078-08 TCGA-CV-7407-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 94631dc8-6dcb-49ed-bb68-e1a57a65f1cb 1ef9d6ea-cd89-4b1f-b699-623bc0293b99 g.chr12:653525G>A uc001qii.1 + 4 372 c.372G>A c.(370-372)CTG>CTA p.L124L B4GALNT3_uc001qij.1_Silent_p.L26L NM_173593 NP_775864 Q6L9W6 B4GN3_HUMAN beta 124 Lumenal (Potential). Golgi cisterna membrane|integral to membrane N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity ovary(1)|skin(1) 2 all_cancers(10;0.0158)|all_epithelial(11;0.0274)|Ovarian(42;0.0512)|all_lung(10;0.154)|Lung NSC(10;0.215) OV - Ovarian serous cystadenocarcinoma(31;0.00018)|BRCA - Breast invasive adenocarcinoma(9;0.0262) GTGCCAACCTGCATGTGTTTG 0.632 NA 9 75 0 0 0 0 AQP2 359 broad.mit.edu 37 12 50344816 50344816 + Missense_Mutation SNP A A C rs104894331 TCGA-CV-7407-01A-11D-2078-08 TCGA-CV-7407-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 94631dc8-6dcb-49ed-bb68-e1a57a65f1cb 1ef9d6ea-cd89-4b1f-b699-623bc0293b99 g.chr12:50344816A>C uc001rvn.2 + 1 293 c.203A>C c.(202-204)AAC>ACC p.N68T NM_000486 NP_000477 P41181 AQP2_HUMAN aquaporin 2 68 Cytoplasmic (Potential).|NPA 1. N -> S (in ANDI). cellular response to copper ion|cellular response to mercury ion|excretion apical plasma membrane|integral to membrane|transport vesicle membrane glycerol transmembrane transporter activity|water channel activity ovary(2) 2 GCCCACATCAACCCTGCCGTG 0.662 NA 9 35 0 0 0 0 ZBTB39 9880 broad.mit.edu 37 12 57396829 57396829 + Missense_Mutation SNP G G A TCGA-CV-7407-01A-11D-2078-08 TCGA-CV-7407-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 94631dc8-6dcb-49ed-bb68-e1a57a65f1cb 1ef9d6ea-cd89-4b1f-b699-623bc0293b99 g.chr12:57396829G>A uc001sml.1 - 2 1959 c.1873C>T c.(1873-1875)CGG>TGG p.R625W RDH16_uc010sqx.1_5'Flank NM_014830 NP_055645 O15060 ZBT39_HUMAN zinc finger and BTB domain containing 39 625 C2H2-type 6. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1) 1 GTGTGGATCCGCCGGTGGTAG 0.557 NA 9 70 0 0 0 0 TMEM132D 121256 broad.mit.edu 37 12 129569218 129569218 + Silent SNP G G T TCGA-CV-7407-01A-11D-2078-08 TCGA-CV-7407-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 94631dc8-6dcb-49ed-bb68-e1a57a65f1cb 1ef9d6ea-cd89-4b1f-b699-623bc0293b99 g.chr12:129569218G>T uc009zyl.1 - 6 1801 c.1473C>A c.(1471-1473)GTC>GTA p.V491V TMEM132D_uc001uia.2_Silent_p.V29V NM_133448 NP_597705 Q14C87 T132D_HUMAN transmembrane protein 132D precursor 491 Extracellular (Potential). integral to membrane ovary(10)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1) 14 all_neural(191;0.101)|Medulloblastoma(191;0.163) all_epithelial(31;0.0934)|Breast(359;0.133) OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246) CTTTCCCATTGACAAAGACGT 0.542 NA 7 28 2.01e-06 2.22e-06 1 0 ANKLE2 23141 broad.mit.edu 37 12 133319798 133319798 + Missense_Mutation SNP G G A TCGA-CV-7407-01A-11D-2078-08 TCGA-CV-7407-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 94631dc8-6dcb-49ed-bb68-e1a57a65f1cb 1ef9d6ea-cd89-4b1f-b699-623bc0293b99 g.chr12:133319798G>A uc001ukx.2 - 6 1362 c.1295C>T c.(1294-1296)TCG>TTG p.S432L ANKLE2_uc001uky.3_Missense_Mutation_p.S370L NM_015114 NP_055929 Q86XL3 ANKL2_HUMAN ankyrin repeat and LEM domain containing 2 432 ANK. cytoplasm|integral to membrane|nuclear envelope 0 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.0176)|Lung NSC(355;0.204) OV - Ovarian serous cystadenocarcinoma(86;2.3e-08)|Epithelial(86;1.56e-07)|all cancers(50;4.94e-06) ATGGTGTGACGAAAGCACGTT 0.353 NA 6 25 0 0 0 0 OR4N2 390429 broad.mit.edu 37 14 20295720 20295720 + Missense_Mutation SNP T T C TCGA-CV-7407-01A-11D-2078-08 TCGA-CV-7407-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 94631dc8-6dcb-49ed-bb68-e1a57a65f1cb 1ef9d6ea-cd89-4b1f-b699-623bc0293b99 g.chr14:20295720T>C uc010tkv.1 + 1 113 c.113T>C c.(112-114)ATC>ACC p.I38T NM_001004723 NP_001004723 Q8NGD1 OR4N2_HUMAN olfactory receptor, family 4, subfamily N, 38 Helical; Name=1; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|central_nervous_system(1)|skin(1) 4 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00327) TACTTCATCATCCTCCCTGGA 0.438 NA 20 277 0 0 0 0 METTL3 56339 broad.mit.edu 37 14 21971333 21971333 + Missense_Mutation SNP C C T TCGA-CV-7407-01A-11D-2078-08 TCGA-CV-7407-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 94631dc8-6dcb-49ed-bb68-e1a57a65f1cb 1ef9d6ea-cd89-4b1f-b699-623bc0293b99 g.chr14:21971333C>T uc001wbc.2 - 3 798 c.706G>A c.(706-708)GAA>AAA p.E236K METTL3_uc001wbb.2_Missense_Mutation_p.E81K|METTL3_uc010tlw.1_RNA|METTL3_uc010tlx.1_Missense_Mutation_p.E236K|METTL3_uc001wbd.1_Missense_Mutation_p.E236K NM_019852 NP_062826 Q86U44 MTA70_HUMAN methyltransferase like 3 236 gene expression nuclear speck mRNA (2'-O-methyladenosine-N6-)-methyltransferase activity|RNA binding pancreas(1)|skin(1) 2 all_cancers(95;0.000628) Epithelial(56;6.61e-06) GBM - Glioblastoma multiforme(265;0.0146) CTCTGTTGTTCCTTAGTGGAC 0.448 NA 38 114 0 0 0 0 RTN1 6252 broad.mit.edu 37 14 60212930 60212930 + Missense_Mutation SNP T T C TCGA-CV-7407-01A-11D-2078-08 TCGA-CV-7407-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 94631dc8-6dcb-49ed-bb68-e1a57a65f1cb 1ef9d6ea-cd89-4b1f-b699-623bc0293b99 g.chr14:60212930T>C uc001xen.1 - 2 720 c.511A>G c.(511-513)ACT>GCT p.T171A NM_021136 NP_066959 Q16799 RTN1_HUMAN reticulon 1 isoform A 171 neuron differentiation integral to endoplasmic reticulum membrane signal transducer activity ovary(2)|central_nervous_system(2) 4 OV - Ovarian serous cystadenocarcinoma(108;0.0968) TCTGCAGGAGTCATCTCTATT 0.507 NA 32 36 0 0 0 0 SYNE2 23224 broad.mit.edu 37 14 64486767 64486767 + Missense_Mutation SNP A A G TCGA-CV-7407-01A-11D-2078-08 TCGA-CV-7407-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 94631dc8-6dcb-49ed-bb68-e1a57a65f1cb 1ef9d6ea-cd89-4b1f-b699-623bc0293b99 g.chr14:64486767A>G uc001xgm.2 + 35 5337 c.5107A>G c.(5107-5109)ATA>GTA p.I1703V SYNE2_uc001xgl.2_Missense_Mutation_p.I1703V NM_015180 NP_055995 Q8WXH0 SYNE2_HUMAN spectrin repeat containing, nuclear envelope 2 1703 Cytoplasmic (Potential).|Potential. centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc actin binding|protein binding ovary(8)|breast(4)|central_nervous_system(1)|pancreas(1) 14 all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681) AGTGGCTGAAATACAGTTTTT 0.249 NA 14 72 0 0 0 0 ITPK1 3705 broad.mit.edu 37 14 93412779 93412779 + Silent SNP G G A TCGA-CV-7407-01A-11D-2078-08 TCGA-CV-7407-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 94631dc8-6dcb-49ed-bb68-e1a57a65f1cb 1ef9d6ea-cd89-4b1f-b699-623bc0293b99 g.chr14:93412779G>A uc001ybg.2 - 10 1087 c.798C>T c.(796-798)TCC>TCT p.S266S ITPK1_uc001ybe.2_Silent_p.S266S|ITPK1_uc001ybf.2_Silent_p.S147S|ITPK1_uc001ybh.2_Silent_p.S266S NM_014216 NP_055031 Q13572 ITPK1_HUMAN inositol 1,3,4-triphosphate 5/6 kinase isoform 266 ATP-grasp. blood coagulation|inositol trisphosphate metabolic process|signal transduction cytosol ATP binding|hydrolase activity|inositol tetrakisphosphate 1-kinase activity|inositol-1,3,4-trisphosphate 5/6-kinase activity|isomerase activity|ligase activity|magnesium ion binding 0 all_cancers(154;0.077)|all_epithelial(191;0.247) Epithelial(152;0.124)|all cancers(159;0.169) GCAGGGCCCGGGAGAGCTCCC 0.617 NA 12 43 0 0 0 0 VPS33B 26276 broad.mit.edu 37 15 91557634 91557634 + Missense_Mutation SNP T T C TCGA-CV-7407-01A-11D-2078-08 TCGA-CV-7407-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 94631dc8-6dcb-49ed-bb68-e1a57a65f1cb 1ef9d6ea-cd89-4b1f-b699-623bc0293b99 g.chr15:91557634T>C uc002bqp.1 - 4 623 c.269A>G c.(268-270)AAG>AGG p.K90R VPS33B_uc002bqq.1_5'UTR|VPS33B_uc010uqu.1_Missense_Mutation_p.K63R NM_018668 NP_061138 Q9H267 VP33B_HUMAN vacuolar protein sorting 33B (yeast homolog)) 90 cellular membrane fusion|lysosome localization|melanosome localization|platelet alpha granule organization|protein transport|vesicle docking involved in exocytosis late endosome membrane|lysosomal membrane|perinuclear region of cytoplasm|platelet alpha granule protein binding ovary(2) 2 Lung NSC(78;0.0987)|all_lung(78;0.175) TCGCATATTCTTGATGCGGGG 0.428 NA 33 144 0 0 0 0 MSLNL 401827 broad.mit.edu 37 16 830539 830539 + Silent SNP C C T TCGA-CV-7407-01A-11D-2078-08 TCGA-CV-7407-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 94631dc8-6dcb-49ed-bb68-e1a57a65f1cb 1ef9d6ea-cd89-4b1f-b699-623bc0293b99 g.chr16:830539C>T uc002cjz.1 - 3 462 c.462G>A c.(460-462)CCG>CCA p.P154P NM_001025190 NP_001020361 Q96KJ4 MSLNL_HUMAN mesothelin-like Error:Variant_position_missing_in_Q96KJ4_after_alignment cell adhesion integral to membrane breast(3)|ovary(1) 4 ACAGTGTGCACGGGTAGGTGA 0.562 NA 12 93 0 0 0 0 TNRC6A 27327 broad.mit.edu 37 16 24826581 24826581 + Missense_Mutation SNP C C T TCGA-CV-7407-01A-11D-2078-08 TCGA-CV-7407-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 94631dc8-6dcb-49ed-bb68-e1a57a65f1cb 1ef9d6ea-cd89-4b1f-b699-623bc0293b99 g.chr16:24826581C>T uc002dmm.2 + 19 4900 c.4786C>T c.(4786-4788)CGT>TGT p.R1596C TNRC6A_uc010bxs.2_Missense_Mutation_p.R1343C|TNRC6A_uc002dmn.2_Missense_Mutation_p.R1294C|TNRC6A_uc002dmo.2_Missense_Mutation_p.R1235C|TNRC6A_uc002dmp.2_Missense_Mutation_p.R197C|TNRC6A_uc002dmq.2_Missense_Mutation_p.R263C NM_014494 NP_055309 Q8NDV7 TNR6A_HUMAN trinucleotide repeat containing 6A 1596 negative regulation of translation involved in gene silencing by miRNA cytoplasmic mRNA processing body|micro-ribonucleoprotein complex nucleotide binding|RNA binding ovary(2) 2 GBM - Glioblastoma multiforme(48;0.0394) TGGCTGGCCACGTGCCAAATC 0.448 NA 7 31 0 0 0 0 CDH16 1014 broad.mit.edu 37 16 66945163 66945163 + Missense_Mutation SNP C C T TCGA-CV-7407-01A-11D-2078-08 TCGA-CV-7407-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 94631dc8-6dcb-49ed-bb68-e1a57a65f1cb 1ef9d6ea-cd89-4b1f-b699-623bc0293b99 g.chr16:66945163C>T uc002eql.2 - 14 1919 c.1846G>A c.(1846-1848)GAG>AAG p.E616K CDH16_uc010cdy.2_Missense_Mutation_p.E616K|CDH16_uc002eqm.2_Missense_Mutation_p.E519K NM_004062 NP_004053 O75309 CAD16_HUMAN cadherin 16 precursor 616 Extracellular (Potential).|Cadherin 6. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(2)|upper_aerodigestive_tract(1) 3 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0877)|Epithelial(162;0.203) GTGTGCACCTCCCCGGAGAAT 0.597 NA 3 18 0 0 0 0 PMFBP1 83449 broad.mit.edu 37 16 72173223 72173223 + Missense_Mutation SNP G G A TCGA-CV-7407-01A-11D-2078-08 TCGA-CV-7407-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 94631dc8-6dcb-49ed-bb68-e1a57a65f1cb 1ef9d6ea-cd89-4b1f-b699-623bc0293b99 g.chr16:72173223G>A uc002fcc.3 - 7 1055 c.883C>T c.(883-885)CCT>TCT p.P295S PMFBP1_uc002fcd.2_Missense_Mutation_p.P295S|PMFBP1_uc002fce.2_RNA|PMFBP1_uc002fcf.2_Missense_Mutation_p.P150S NM_031293 NP_112583 Q8TBY8 PMFBP_HUMAN polyamine modulated factor 1 binding protein 1 295 ovary(2) 2 Ovarian(137;0.179) GAGGAGCTAGGAGGGTATCTG 0.463 NA 4 15 0 0 0 0 PKD1L2 114780 broad.mit.edu 37 16 81142842 81142842 + Missense_Mutation SNP T T C TCGA-CV-7407-01A-11D-2078-08 TCGA-CV-7407-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 94631dc8-6dcb-49ed-bb68-e1a57a65f1cb 1ef9d6ea-cd89-4b1f-b699-623bc0293b99 g.chr16:81142842T>C uc002fgh.1 - 43 7043 c.7043A>G c.(7042-7044)GAG>GGG p.E2348G PKD1L2_uc002fgf.1_Missense_Mutation_p.E148G|PKD1L2_uc002fgg.1_RNA NM_052892 NP_443124 Q7Z442 PK1L2_HUMAN polycystin 1-like 2 isoform a 2348 Channel pore-region.|Cytoplasmic (Potential). neuropeptide signaling pathway integral to membrane calcium ion binding|ion channel activity|sugar binding ovary(1)|central_nervous_system(1)|pancreas(1) 3 GACCATCGTCTCCGCCGCATC 0.398 NA 4 9 0 0 0 0 SLC25A35 399512 broad.mit.edu 37 17 8197904 8197904 + Silent SNP G G A TCGA-CV-7407-01A-11D-2078-08 TCGA-CV-7407-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 94631dc8-6dcb-49ed-bb68-e1a57a65f1cb 1ef9d6ea-cd89-4b1f-b699-623bc0293b99 g.chr17:8197904G>A uc002gla.3 - 1 267 c.222C>T c.(220-222)TTC>TTT p.F74F SLC25A35_uc002gku.1_Silent_p.F74F|SLC25A35_uc002gkt.2_Silent_p.F74F|SLC25A35_uc002gkz.1_RNA NM_201520 NP_958928 Q3KQZ1 S2535_HUMAN solute carrier family 25, member 35 74 Solcar 1.|Helical; Name=2; (Potential). transport integral to membrane|mitochondrial inner membrane 0 CATTCATCAGGAACTGGTACA 0.627 NA 9 37 0 0 0 0 MYH8 4626 broad.mit.edu 37 17 10296168 10296168 + Missense_Mutation SNP T T C TCGA-CV-7407-01A-11D-2078-08 TCGA-CV-7407-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 94631dc8-6dcb-49ed-bb68-e1a57a65f1cb 1ef9d6ea-cd89-4b1f-b699-623bc0293b99 g.chr17:10296168T>C uc002gmm.2 - 37 5538 c.5443A>G c.(5443-5445)ATC>GTC p.I1815V uc002gml.1_Intron NM_002472 NP_002463 P13535 MYH8_HUMAN myosin, heavy chain 8, skeletal muscle, 1815 Potential. muscle filament sliding cytosol|muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle skin(6)|ovary(3)|breast(2) 11 AGTTTCTGGATCTGCTTCTTC 0.552 NA Trismus-Pseudocamptodactyly_Syndrome_with_Cardiac_Myxoma_and_Freckling 18 121 0 0 0 0 NCOR1 9611 broad.mit.edu 37 17 15971267 15971267 + Missense_Mutation SNP C C T TCGA-CV-7407-01A-11D-2078-08 TCGA-CV-7407-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 94631dc8-6dcb-49ed-bb68-e1a57a65f1cb 1ef9d6ea-cd89-4b1f-b699-623bc0293b99 g.chr17:15971267C>T uc002gpo.2 - 32 4922 c.4682G>A c.(4681-4683)CGG>CAG p.R1561Q NCOR1_uc002gpn.2_Missense_Mutation_p.R1577Q|NCOR1_uc002gpm.2_Missense_Mutation_p.R82Q|NCOR1_uc010vwb.1_Missense_Mutation_p.R145Q|NCOR1_uc010coy.2_Missense_Mutation_p.R469Q|NCOR1_uc010vwc.1_Missense_Mutation_p.R372Q NM_006311 NP_006302 O75376 NCOR1_HUMAN nuclear receptor co-repressor 1 1561 Interaction with ETO.|Interaction with C1D (By similarity). R -> W (in Ref. 1; AAC33550). 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) CAGGTGGCTCCGATAAACCTC 0.512 NA 9 40 0 0 0 0 MYO15A 51168 broad.mit.edu 37 17 18052259 18052259 + Missense_Mutation SNP C C T TCGA-CV-7407-01A-11D-2078-08 TCGA-CV-7407-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 94631dc8-6dcb-49ed-bb68-e1a57a65f1cb 1ef9d6ea-cd89-4b1f-b699-623bc0293b99 g.chr17:18052259C>T uc010vxh.1 + 32 7287 c.6949C>T c.(6949-6951)CCC>TCC p.P2317S NM_016239 NP_057323 Q9UKN7 MYO15_HUMAN myosin XV 2317 Tail. 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) CAGGGGAGGCCCCAAAGTGTA 0.642 NA 2 4 0 0 0 0 ACCN1 40 broad.mit.edu 37 17 32483504 32483504 + Silent SNP G G A TCGA-CV-7407-01A-11D-2078-08 TCGA-CV-7407-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 94631dc8-6dcb-49ed-bb68-e1a57a65f1cb 1ef9d6ea-cd89-4b1f-b699-623bc0293b99 g.chr17:32483504G>A uc002hhu.2 - 1 322 c.48C>T c.(46-48)AGC>AGT p.S16S NM_001094 NP_001085 Q16515 ACCN1_HUMAN amiloride-sensitive cation channel 1, neuronal 16 Cytoplasmic (By similarity). central nervous system development|peripheral nervous system development|synaptic transmission integral to plasma membrane ligand-gated sodium channel activity|protein binding ovary(2)|large_intestine(1)|central_nervous_system(1) 4 Breast(31;0.042)|Ovarian(249;0.202) UCEC - Uterine corpus endometrioid carcinoma (308;0.13)|BRCA - Breast invasive adenocarcinoma(366;0.215) Amiloride(DB00594) AGATCTGGATGCTAGAAGGTT 0.587 NA 14 25 0 0 0 0 C17orf66 256957 broad.mit.edu 37 17 34185484 34185484 + Missense_Mutation SNP C C T TCGA-CV-7407-01A-11D-2078-08 TCGA-CV-7407-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 94631dc8-6dcb-49ed-bb68-e1a57a65f1cb 1ef9d6ea-cd89-4b1f-b699-623bc0293b99 g.chr17:34185484C>T uc002hke.1 - 10 1134 c.985G>A c.(985-987)GTC>ATC p.V329I C17orf66_uc010wck.1_RNA|C17orf66_uc010wcl.1_Missense_Mutation_p.V289I|C17orf66_uc010wcm.1_Missense_Mutation_p.V295I NM_152781 NP_689994 A2RTY3 CQ066_HUMAN hypothetical protein LOC256957 329 binding breast(2)|skin(1) 3 Ovarian(249;0.17) UCEC - Uterine corpus endometrioid carcinoma (308;0.0184) GCCTTGATGACTGGGGCTGAG 0.572 NA 3 24 0 0 0 0 ACACA 31 broad.mit.edu 37 17 35600372 35600372 + Missense_Mutation SNP G G T TCGA-CV-7407-01A-11D-2078-08 TCGA-CV-7407-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 94631dc8-6dcb-49ed-bb68-e1a57a65f1cb 1ef9d6ea-cd89-4b1f-b699-623bc0293b99 g.chr17:35600372G>T uc002hnm.2 - 22 2926 c.2735C>A c.(2734-2736)CCC>CAC p.P912H ACACA_uc002hnk.2_Missense_Mutation_p.P834H|ACACA_uc002hnl.2_Missense_Mutation_p.P854H|ACACA_uc002hnn.2_Missense_Mutation_p.P912H|ACACA_uc002hno.2_Missense_Mutation_p.P949H|ACACA_uc010cuz.2_Missense_Mutation_p.P912H NM_198836 NP_942133 Q13085 ACACA_HUMAN acetyl-Coenzyme A carboxylase alpha isoform 2 912 acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process cytosol acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding large_intestine(1)|ovary(1) 2 Breast(25;0.00157)|Ovarian(249;0.15) Biotin(DB00121) CTCCACATTGGGGGGAATGCG 0.468 NA 20 128 1.34e-09 1.52e-09 1 0 CACNG5 27091 broad.mit.edu 37 17 64876725 64876725 + Missense_Mutation SNP T T G TCGA-CV-7407-01A-11D-2078-08 TCGA-CV-7407-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 94631dc8-6dcb-49ed-bb68-e1a57a65f1cb 1ef9d6ea-cd89-4b1f-b699-623bc0293b99 g.chr17:64876725T>G uc010wqi.1 + 4 572 c.335T>G c.(334-336)TTC>TGC p.F112C CACNG5_uc002jfr.2_Missense_Mutation_p.F112C|CACNG5_uc010wqj.1_Missense_Mutation_p.F112C NM_145811 NP_665810 Q9UF02 CCG5_HUMAN voltage-dependent calcium channel gamma-5 112 Helical; (Potential). regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|postsynaptic density|postsynaptic membrane voltage-gated calcium channel activity pancreas(1)|skin(1) 2 BRCA - Breast invasive adenocarcinoma(6;1.61e-08) TTCTTCATGTTCATTGGGTTT 0.512 NA 21 78 0 0 0 0 POTEC 388468 broad.mit.edu 37 18 14542833 14542833 + Missense_Mutation SNP A A C TCGA-CV-7407-01A-11D-2078-08 TCGA-CV-7407-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 94631dc8-6dcb-49ed-bb68-e1a57a65f1cb 1ef9d6ea-cd89-4b1f-b699-623bc0293b99 g.chr18:14542833A>C uc010dln.2 - 1 767 c.313T>G c.(313-315)TGC>GGC p.C105G POTEC_uc010xaj.1_RNA NM_001137671 NP_001131143 B2RU33 POTEC_HUMAN ANKRD26-like family B, member 2 105 skin(3) 3 CAGGGGAAGCAGTGACAGCAC 0.617 NA 11 147 0 0 0 0 ONECUT2 9480 broad.mit.edu 37 18 55143819 55143819 + Missense_Mutation SNP C C T TCGA-CV-7407-01A-11D-2078-08 TCGA-CV-7407-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 94631dc8-6dcb-49ed-bb68-e1a57a65f1cb 1ef9d6ea-cd89-4b1f-b699-623bc0293b99 g.chr18:55143819C>T uc002lgo.2 + 2 1411 c.1379C>T c.(1378-1380)TCC>TTC p.S460F NM_004852 NP_004843 O95948 ONEC2_HUMAN one cut domain, family member 2 460 Homeobox. organ morphogenesis nucleus sequence-specific DNA binding ovary(2)|central_nervous_system(1) 3 Colorectal(73;0.234) READ - Rectum adenocarcinoma(59;0.227)|Colorectal(16;0.245) ATCACCATTTCCCAGCAGCTG 0.582 NA 15 39 0 0 0 0 MYO1F 4542 broad.mit.edu 37 19 8618065 8618065 + Silent SNP G G A TCGA-CV-7407-01A-11D-2078-08 TCGA-CV-7407-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 94631dc8-6dcb-49ed-bb68-e1a57a65f1cb 1ef9d6ea-cd89-4b1f-b699-623bc0293b99 g.chr19:8618065G>A uc002mkg.2 - 6 576 c.462C>T c.(460-462)TTC>TTT p.F154F MYO1F_uc002mkh.2_Silent_p.F154F|MYO1F_uc010xkf.1_Silent_p.F154F NM_012335 NP_036467 O00160 MYO1F_HUMAN myosin IF 154 Myosin head-like. unconventional myosin complex actin binding|ATP binding|calmodulin binding|motor activity ovary(2)|skin(1) 3 TGGCGTTGCCGAAGGCCTCGA 0.567 NA 8 67 0 0 0 0 PBX4 80714 broad.mit.edu 37 19 19681616 19681616 + Missense_Mutation SNP C C T rs147300531 TCGA-CV-7407-01A-11D-2078-08 TCGA-CV-7407-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 94631dc8-6dcb-49ed-bb68-e1a57a65f1cb 1ef9d6ea-cd89-4b1f-b699-623bc0293b99 g.chr19:19681616C>T uc002nmy.2 - 3 221 c.220G>A c.(220-222)GAA>AAA p.E74K PBX4_uc010xqz.1_RNA|PBX4_uc010xra.1_5'UTR NM_025245 NP_079521 Q9BYU1 PBX4_HUMAN pre-B-cell leukemia homeobox 4 74 sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity large_intestine(1)|ovary(1) 2 GGGGGATCTTCGTCTTGAATG 0.537 NA 7 65 0 0 0 0 ZNF585B 92285 broad.mit.edu 37 19 37677052 37677052 + Missense_Mutation SNP C C T TCGA-CV-7407-01A-11D-2078-08 TCGA-CV-7407-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 94631dc8-6dcb-49ed-bb68-e1a57a65f1cb 1ef9d6ea-cd89-4b1f-b699-623bc0293b99 g.chr19:37677052C>T uc002ofq.2 - 5 1641 c.1387G>A c.(1387-1389)GAA>AAA p.E463K uc002ofp.1_5'Flank|ZNF585B_uc002ofr.1_Missense_Mutation_p.E277K NM_152279 NP_689492 Q52M93 Z585B_HUMAN zinc finger protein 585B 463 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding|zinc ion binding ovary(1) 1 COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) TAGGGCTTTTCTCCTGTGTGA 0.368 NA 17 296 0 0 0 0 ZNF383 163087 broad.mit.edu 37 19 37726884 37726884 + Missense_Mutation SNP T T G TCGA-CV-7407-01A-11D-2078-08 TCGA-CV-7407-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 94631dc8-6dcb-49ed-bb68-e1a57a65f1cb 1ef9d6ea-cd89-4b1f-b699-623bc0293b99 g.chr19:37726884T>G uc002oft.1 + 7 720 c.140T>G c.(139-141)CTT>CGT p.L47R ZNF383_uc002ofs.1_5'UTR|ZNF383_uc002ofu.1_Missense_Mutation_p.L47R NM_152604 NP_689817 Q8NA42 ZN383_HUMAN zinc finger protein 383 47 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|zinc ion binding ovary(1)|skin(1) 2 COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) TGAGCAGGACTTTACACTCCT 0.483 NA 9 153 0 0 0 0 SLC17A7 57030 broad.mit.edu 37 19 49933917 49933917 + Silent SNP G G A TCGA-CV-7407-01A-11D-2078-08 TCGA-CV-7407-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 94631dc8-6dcb-49ed-bb68-e1a57a65f1cb 1ef9d6ea-cd89-4b1f-b699-623bc0293b99 g.chr19:49933917G>A uc002pnp.2 - 12 1714 c.1542C>T c.(1540-1542)GAC>GAT p.D514D SLC17A7_uc002pno.2_Silent_p.D176D NM_020309 NP_064705 Q9P2U7 VGLU1_HUMAN solute carrier family 17, member 7 514 Cytoplasmic (Potential). glutamate secretion|neurotransmitter secretion cell junction|clathrin sculpted glutamate transport vesicle membrane|integral to membrane|synaptic vesicle membrane|synaptosome L-glutamate transmembrane transporter activity|sodium-dependent phosphate transmembrane transporter activity|sodium:inorganic phosphate symporter activity ovary(1)|pancreas(1)|skin(1) 3 all_lung(116;1.62e-07)|Lung NSC(112;8.47e-07)|all_neural(266;0.0381)|Ovarian(192;0.0392) OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(486;0.0245) CAGCCAGCTGGTCATGGCCAA 0.627 NA 11 47 0 0 0 0 PXDN 7837 broad.mit.edu 37 2 1653341 1653341 + Silent SNP G G A TCGA-CV-7407-01A-11D-2078-08 TCGA-CV-7407-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 94631dc8-6dcb-49ed-bb68-e1a57a65f1cb 1ef9d6ea-cd89-4b1f-b699-623bc0293b99 g.chr2:1653341G>A uc002qxa.2 - 17 2275 c.2211C>T c.(2209-2211)TTC>TTT p.F737F NM_012293 NP_036425 Q92626 PXDN_HUMAN peroxidasin precursor 737 extracellular matrix organization|hydrogen peroxide catabolic process|immune response endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity pancreas(6)|ovary(2) 8 Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797) all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716) all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228) ACTTCTGGTGGAAGCACATGT 0.612 NA 24 87 0 0 0 0 PXDN 7837 broad.mit.edu 37 2 1664729 1664729 + Silent SNP T T C TCGA-CV-7407-01A-11D-2078-08 TCGA-CV-7407-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 94631dc8-6dcb-49ed-bb68-e1a57a65f1cb 1ef9d6ea-cd89-4b1f-b699-623bc0293b99 g.chr2:1664729T>C uc002qxa.2 - 14 1825 c.1761A>G c.(1759-1761)GCA>GCG p.A587A PXDN_uc002qxb.1_Silent_p.A587A NM_012293 NP_036425 Q92626 PXDN_HUMAN peroxidasin precursor 587 Ig-like C2-type 4. extracellular matrix organization|hydrogen peroxide catabolic process|immune response endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity pancreas(6)|ovary(2) 8 Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797) all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716) all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228) GACCTGCGTCTGCAGGGCCAA 0.522 NA 10 32 0 0 0 0 APOB 338 broad.mit.edu 37 2 21231328 21231328 + Silent SNP G G A TCGA-CV-7407-01A-11D-2078-08 TCGA-CV-7407-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 94631dc8-6dcb-49ed-bb68-e1a57a65f1cb 1ef9d6ea-cd89-4b1f-b699-623bc0293b99 g.chr2:21231328G>A uc002red.2 - 26 8540 c.8412C>T c.(8410-8412)CTC>CTT p.L2804L NM_000384 NP_000375 P04114 APOB_HUMAN apolipoprotein B precursor 2804 cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity ovary(11)|skin(9)|central_nervous_system(3)|large_intestine(2)|upper_aerodigestive_tract(1)|pancreas(1) 27 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) Atorvastatin(DB01076) AATCAAAATTGAGAACTTCTA 0.448 NA 30 114 0 0 0 0 CCDC121 79635 broad.mit.edu 37 2 27850176 27850176 + Missense_Mutation SNP A A G TCGA-CV-7407-01A-11D-2078-08 TCGA-CV-7407-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 94631dc8-6dcb-49ed-bb68-e1a57a65f1cb 1ef9d6ea-cd89-4b1f-b699-623bc0293b99 g.chr2:27850176A>G uc002rle.2 - 2 672 c.491T>C c.(490-492)CTA>CCA p.L164P ZNF512_uc010yly.1_Intron|CCDC121_uc010eze.2_Missense_Mutation_p.L328P|CCDC121_uc002rld.2_Missense_Mutation_p.L326P|GPN1_uc010ezf.2_5'Flank|GPN1_uc010yma.1_5'Flank|GPN1_uc010ymb.1_5'Flank|GPN1_uc010ymc.1_5'Flank|GPN1_uc010ymd.1_5'Flank|GPN1_uc010yme.1_5'Flank|GPN1_uc010ezg.1_5'Flank NM_024584 NP_078860 Q6ZUS5 CC121_HUMAN coiled-coil domain containing 121 isoform 3 164 Potential. 0 Acute lymphoblastic leukemia(172;0.155) CTTTCCCAGTAGCCTCCTGTC 0.483 NA 24 84 0 0 0 0 C2orf42 54980 broad.mit.edu 37 2 70408542 70408542 + Silent SNP T T C TCGA-CV-7407-01A-11D-2078-08 TCGA-CV-7407-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 94631dc8-6dcb-49ed-bb68-e1a57a65f1cb 1ef9d6ea-cd89-4b1f-b699-623bc0293b99 g.chr2:70408542T>C uc002sgh.2 - 3 904 c.576A>G c.(574-576)AAA>AAG p.K192K NM_017880 NP_060350 Q9NWW7 CB042_HUMAN hypothetical protein LOC54980 192 0 TTGCCTTGCATTTCACCACCA 0.512 NA 14 102 0 0 0 0 TSGA10 80705 broad.mit.edu 37 2 99720536 99720536 + Missense_Mutation SNP T T C TCGA-CV-7407-01A-11D-2078-08 TCGA-CV-7407-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 94631dc8-6dcb-49ed-bb68-e1a57a65f1cb 1ef9d6ea-cd89-4b1f-b699-623bc0293b99 g.chr2:99720536T>C uc002szg.3 - 8 1133 c.505A>G c.(505-507)AAG>GAG p.K169E TSGA10_uc002szh.3_Missense_Mutation_p.K169E|TSGA10_uc002szi.3_Missense_Mutation_p.K169E|TSGA10_uc010fin.1_Missense_Mutation_p.K169E|TSGA10_uc010yvn.1_Missense_Mutation_p.K169E NM_182911 NP_878915 Q9BZW7 TSG10_HUMAN testis specific, 10 169 spermatogenesis cytoplasm|nuclear membrane ovary(1)|central_nervous_system(1) 2 ATGGTTTCCTTCATCAAAGTC 0.363 NA 22 55 0 0 0 0 IL18RAP 8807 broad.mit.edu 37 2 103068292 103068292 + Missense_Mutation SNP A A G TCGA-CV-7407-01A-11D-2078-08 TCGA-CV-7407-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 94631dc8-6dcb-49ed-bb68-e1a57a65f1cb 1ef9d6ea-cd89-4b1f-b699-623bc0293b99 g.chr2:103068292A>G uc002tbx.2 + 12 1935 c.1451A>G c.(1450-1452)AAC>AGC p.N484S IL18RAP_uc010fiz.2_Missense_Mutation_p.N342S NM_003853 NP_003844 O95256 I18RA_HUMAN interleukin 18 receptor accessory protein 484 TIR.|Cytoplasmic (Potential). cell surface receptor linked signaling pathway|inflammatory response|innate immune response integral to membrane transmembrane receptor activity skin(3)|ovary(2) 5 TTGAGCCCCAACTATGTCAAT 0.353 NA 12 86 0 0 0 0 CLASP1 23332 broad.mit.edu 37 2 122155929 122155929 + Missense_Mutation SNP A A G TCGA-CV-7407-01A-11D-2078-08 TCGA-CV-7407-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 94631dc8-6dcb-49ed-bb68-e1a57a65f1cb 1ef9d6ea-cd89-4b1f-b699-623bc0293b99 g.chr2:122155929A>G uc002tnc.2 - 28 3338 c.2948T>C c.(2947-2949)ATT>ACT p.I983T CLASP1_uc010yyv.1_Missense_Mutation_p.I68T|CLASP1_uc002tmz.2_Missense_Mutation_p.I68T|CLASP1_uc002tna.2_Missense_Mutation_p.I68T|CLASP1_uc010yyw.1_RNA|CLASP1_uc002tnb.2_RNA|CLASP1_uc010yyx.1_RNA|CLASP1_uc010yyy.1_RNA|CLASP1_uc010yyz.1_Missense_Mutation_p.I963T|CLASP1_uc010yza.1_Missense_Mutation_p.I955T|CLASP1_uc010yzb.1_RNA|CLASP1_uc010yzc.1_RNA NM_015282 NP_056097 Q7Z460 CLAP1_HUMAN CLIP-associating protein 1 isoform 1 983 HEAT 5. axon guidance|cell division|establishment or maintenance of cell polarity|exit from mitosis|G2/M transition of mitotic cell cycle|microtubule anchoring|microtubule bundle formation|microtubule nucleation|microtubule organizing center organization|mitotic prometaphase|negative regulation of microtubule depolymerization centrosomal corona|condensed chromosome kinetochore|cortical microtubule cytoskeleton|cytoplasmic microtubule|cytosol|Golgi apparatus|kinetochore microtubule kinetochore binding|microtubule plus-end binding ovary(1)|central_nervous_system(1) 2 Renal(3;0.0496) TTGATCCACAATAAATCTCAT 0.269 NA 3 3 0 0 0 0 LCT 3938 broad.mit.edu 37 2 136566291 136566291 + Missense_Mutation SNP T T G TCGA-CV-7407-01A-11D-2078-08 TCGA-CV-7407-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 94631dc8-6dcb-49ed-bb68-e1a57a65f1cb 1ef9d6ea-cd89-4b1f-b699-623bc0293b99 g.chr2:136566291T>G uc002tuu.1 - 8 3637 c.3626A>C c.(3625-3627)TAC>TCC p.Y1209S NM_002299 NP_002290 P09848 LPH_HUMAN lactase-phlorizin hydrolase preproprotein 1209 3.|Extracellular (Potential).|4 X approximate repeats. carbohydrate metabolic process|polysaccharide digestion apical plasma membrane|integral to plasma membrane|membrane fraction cation binding|glycosylceramidase activity|lactase activity ovary(7)|central_nervous_system(2)|skin(2)|pancreas(1)|lung(1) 13 BRCA - Breast invasive adenocarcinoma(221;0.169) TCTGGAGTAGTACGTGTTGAG 0.577 NA 45 96 0 0 0 0 LRP1B 53353 broad.mit.edu 37 2 141533735 141533735 + Missense_Mutation SNP G G T TCGA-CV-7407-01A-11D-2078-08 TCGA-CV-7407-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 94631dc8-6dcb-49ed-bb68-e1a57a65f1cb 1ef9d6ea-cd89-4b1f-b699-623bc0293b99 g.chr2:141533735G>T uc002tvj.1 - 33 6404 c.5432C>A c.(5431-5433)CCC>CAC p.P1811H NM_018557 NP_061027 Q9NZR2 LRP1B_HUMAN low density lipoprotein-related protein 1B 1811 Extracellular (Potential).|LDL-receptor class B 18. protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1) 50 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) TAGGATGGTGGGGTTTCTTCC 0.408 NA TSP Lung(27;0.18) 14 31 3.27e-08 3.65e-08 1 0 FMNL2 114793 broad.mit.edu 37 2 153471451 153471451 + Silent SNP A A G TCGA-CV-7407-01A-11D-2078-08 TCGA-CV-7407-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 94631dc8-6dcb-49ed-bb68-e1a57a65f1cb 1ef9d6ea-cd89-4b1f-b699-623bc0293b99 g.chr2:153471451A>G uc002tye.2 + 12 1516 c.1149A>G c.(1147-1149)GAA>GAG p.E383E NM_052905 NP_443137 Q96PY5 FMNL2_HUMAN formin-like 2 383 GBD/FH3. actin cytoskeleton organization cytoplasm actin binding|Rho GTPase binding central_nervous_system(2)|ovary(1) 3 CTCTACTGGAAGATGCTGAAA 0.398 NA 13 40 0 0 0 0 BAZ2B 29994 broad.mit.edu 37 2 160204060 160204060 + Missense_Mutation SNP C C G TCGA-CV-7407-01A-11D-2078-08 TCGA-CV-7407-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 94631dc8-6dcb-49ed-bb68-e1a57a65f1cb 1ef9d6ea-cd89-4b1f-b699-623bc0293b99 g.chr2:160204060C>G uc002uao.2 - 31 5743 c.5391G>C c.(5389-5391)TTG>TTC p.L1797F BAZ2B_uc002uap.2_Missense_Mutation_p.L1761F NM_013450 NP_038478 Q9UIF8 BAZ2B_HUMAN bromodomain adjacent to zinc finger domain, 2B 1797 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding ovary(3)|skin(1) 4 GAAGGACACTCAAATCCATTT 0.353 NA 3 56 0 0 0 0 COBLL1 22837 broad.mit.edu 37 2 165557131 165557131 + Missense_Mutation SNP G G C TCGA-CV-7407-01A-11D-2078-08 TCGA-CV-7407-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 94631dc8-6dcb-49ed-bb68-e1a57a65f1cb 1ef9d6ea-cd89-4b1f-b699-623bc0293b99 g.chr2:165557131G>C uc010zcw.1 - 13 1800 c.1676C>G c.(1675-1677)ACA>AGA p.T559R COBLL1_uc002ucp.2_Missense_Mutation_p.T493R|COBLL1_uc002ucq.2_Missense_Mutation_p.T454R|COBLL1_uc010zcx.1_Missense_Mutation_p.T500R|COBLL1_uc002ucs.1_RNA|COBLL1_uc002ucn.2_5'Flank|COBLL1_uc002uco.2_Missense_Mutation_p.T223R NM_014900 NP_055715 Q53SF7 COBL1_HUMAN COBL-like 1 531 ovary(2)|pancreas(1) 3 ATTTTTCAGTGTATTTATTAT 0.373 NA 12 87 0 0 0 0 TTN 7273 broad.mit.edu 37 2 179433970 179433970 + Missense_Mutation SNP C C T TCGA-CV-7407-01A-11D-2078-08 TCGA-CV-7407-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 94631dc8-6dcb-49ed-bb68-e1a57a65f1cb 1ef9d6ea-cd89-4b1f-b699-623bc0293b99 g.chr2:179433970C>T uc010zfg.1 - 275 69409 c.69185G>A c.(69184-69186)GGA>GAA p.G23062E uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.G16757E|TTN_uc010zfi.1_Missense_Mutation_p.G16690E|TTN_uc010zfj.1_Missense_Mutation_p.G16565E NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 23989 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) TATTTTGGATCCCCCATCCAA 0.393 NA 20 416 0 0 0 0 TTN 7273 broad.mit.edu 37 2 179457754 179457754 + Missense_Mutation SNP C C T TCGA-CV-7407-01A-11D-2078-08 TCGA-CV-7407-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 94631dc8-6dcb-49ed-bb68-e1a57a65f1cb 1ef9d6ea-cd89-4b1f-b699-623bc0293b99 g.chr2:179457754C>T uc010zfg.1 - 249 51612 c.51388G>A c.(51388-51390)GAT>AAT p.D17130N uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.D10825N|TTN_uc010zfi.1_Missense_Mutation_p.D10758N|TTN_uc010zfj.1_Missense_Mutation_p.D10633N NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 18057 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) CAAGTTAGATCGACTGAATTG 0.393 NA 7 216 0 0 0 0 TTN 7273 broad.mit.edu 37 2 179640277 179640277 + Missense_Mutation SNP G G A TCGA-CV-7407-01A-11D-2078-08 TCGA-CV-7407-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 94631dc8-6dcb-49ed-bb68-e1a57a65f1cb 1ef9d6ea-cd89-4b1f-b699-623bc0293b99 g.chr2:179640277G>A uc010zfg.1 - 28 6538 c.6314C>T c.(6313-6315)CCA>CTA p.P2105L TTN_uc010zfh.1_Missense_Mutation_p.P2059L|TTN_uc010zfi.1_Missense_Mutation_p.P2059L|TTN_uc010zfj.1_Missense_Mutation_p.P2059L|TTN_uc002unb.2_Missense_Mutation_p.P2105L|uc002unc.1_5'Flank NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 2105 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) TTCGGGGTCTGGTTTCCCCAC 0.478 NA 5 96 0 0 0 0 DNAJC10 54431 broad.mit.edu 37 2 183616441 183616441 + Missense_Mutation SNP G G A TCGA-CV-7407-01A-11D-2078-08 TCGA-CV-7407-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 94631dc8-6dcb-49ed-bb68-e1a57a65f1cb 1ef9d6ea-cd89-4b1f-b699-623bc0293b99 g.chr2:183616441G>A uc002uow.1 + 15 1778 c.1363G>A c.(1363-1365)GTT>ATT p.V455I DNAJC10_uc002uox.1_RNA|DNAJC10_uc002uoy.1_RNA|DNAJC10_uc002uoz.1_Missense_Mutation_p.V409I|DNAJC10_uc010fro.1_RNA NM_018981 NP_061854 Q8IXB1 DJC10_HUMAN DnaJ (Hsp40) homolog, subfamily C, member 10 455 Thioredoxin 2. apoptosis in response to endoplasmic reticulum stress|cell redox homeostasis|ER-associated protein catabolic process|glycerol ether metabolic process|negative regulation of protein phosphorylation|protein folding|response to endoplasmic reticulum stress endoplasmic reticulum chaperone complex|endoplasmic reticulum lumen|extracellular region ATPase activator activity|ATPase binding|chaperone binding|electron carrier activity|heat shock protein binding|misfolded protein binding|protein disulfide oxidoreductase activity|unfolded protein binding ovary(1)|large_intestine(1)|breast(1)|skin(1) 4 OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209) GAATTCTCATGTTACCACGCT 0.353 NA 20 276 0 0 0 0 NCKAP1 10787 broad.mit.edu 37 2 183845983 183845983 + Missense_Mutation SNP C C G TCGA-CV-7407-01A-11D-2078-08 TCGA-CV-7407-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 94631dc8-6dcb-49ed-bb68-e1a57a65f1cb 1ef9d6ea-cd89-4b1f-b699-623bc0293b99 g.chr2:183845983C>G uc002upc.2 - 13 1732 c.1330G>C c.(1330-1332)GAA>CAA p.E444Q NCKAP1_uc002upb.2_Missense_Mutation_p.E450Q NM_013436 NP_038464 Q9Y2A7 NCKP1_HUMAN NCK-associated protein 1 isoform 1 444 apoptosis|central nervous system development integral to membrane|lamellipodium membrane protein binding ovary(2) 2 OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209) TGCACGAGTTCATTGAGGACA 0.383 NA 5 110 0 0 0 0 NCKAP1 10787 broad.mit.edu 37 2 183866755 183866755 + Missense_Mutation SNP G G C TCGA-CV-7407-01A-11D-2078-08 TCGA-CV-7407-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 94631dc8-6dcb-49ed-bb68-e1a57a65f1cb 1ef9d6ea-cd89-4b1f-b699-623bc0293b99 g.chr2:183866755G>C uc002upc.2 - 6 931 c.529C>G c.(529-531)CGC>GGC p.R177G NCKAP1_uc002upb.2_Missense_Mutation_p.R183G NM_013436 NP_038464 Q9Y2A7 NCKP1_HUMAN NCK-associated protein 1 isoform 1 177 apoptosis|central nervous system development integral to membrane|lamellipodium membrane protein binding ovary(2) 2 OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209) TGGCCAAGGCGTGGGTATTCT 0.363 NA 6 108 0 0 0 0 ZNF142 7701 broad.mit.edu 37 2 219507041 219507041 + Missense_Mutation SNP G G C TCGA-CV-7407-01A-11D-2078-08 TCGA-CV-7407-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 94631dc8-6dcb-49ed-bb68-e1a57a65f1cb 1ef9d6ea-cd89-4b1f-b699-623bc0293b99 g.chr2:219507041G>C uc002vin.2 - 8 4634 c.4198C>G c.(4198-4200)CTG>GTG p.L1400V ZNF142_uc002vil.2_Missense_Mutation_p.L1361V|ZNF142_uc010fvt.2_Missense_Mutation_p.L1237V|ZNF142_uc002vim.2_Missense_Mutation_p.L1237V NM_001105537 NP_001099007 P52746 ZN142_HUMAN zinc finger protein 142 1400 C2H2-type 23. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|ovary(1)|skin(1) 4 Renal(207;0.0474) Epithelial(149;5.21e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948) TGCTGTTCCAGGTAGTGCTTT 0.612 NA 17 43 0 0 0 0 SLC4A3 6508 broad.mit.edu 37 2 220494312 220494312 + Missense_Mutation SNP G G A TCGA-CV-7407-01A-11D-2078-08 TCGA-CV-7407-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 94631dc8-6dcb-49ed-bb68-e1a57a65f1cb 1ef9d6ea-cd89-4b1f-b699-623bc0293b99 g.chr2:220494312G>A uc002vmp.3 + 5 775 c.506G>A c.(505-507)GGA>GAA p.G169E SLC4A3_uc002vmn.2_Missense_Mutation_p.G169E|SLC4A3_uc002vmo.3_Missense_Mutation_p.G169E|SLC4A3_uc010fwm.2_5'UTR|SLC4A3_uc010fwn.1_5'Flank NM_005070 NP_005061 P48751 B3A3_HUMAN solute carrier family 4, anion exchanger, member 169 Cytoplasmic. bicarbonate transport integral to plasma membrane|membrane fraction inorganic anion exchanger activity ovary(2)|upper_aerodigestive_tract(1)|breast(1)|skin(1) 5 Renal(207;0.0183) Epithelial(149;2.53e-07)|all cancers(144;5.57e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) TTCTCCATTGGAAGTGACGAG 0.637 NA 13 22 0 0 0 0 FARP2 9855 broad.mit.edu 37 2 242401976 242401976 + Silent SNP G G A TCGA-CV-7407-01A-11D-2078-08 TCGA-CV-7407-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 94631dc8-6dcb-49ed-bb68-e1a57a65f1cb 1ef9d6ea-cd89-4b1f-b699-623bc0293b99 g.chr2:242401976G>A uc002wbi.1 + 15 1743 c.1626G>A c.(1624-1626)GAG>GAA p.E542E FARP2_uc010zoq.1_Silent_p.E542E|FARP2_uc010zor.1_Silent_p.E542E NM_014808 NP_055623 O94887 FARP2_HUMAN FERM, RhoGEF and pleckstrin domain protein 2 542 DH. axon guidance|neuron remodeling|Rac protein signal transduction|regulation of Rho protein signal transduction cytoskeleton|cytosol|extrinsic to membrane cytoskeletal protein binding|Rho guanyl-nucleotide exchange factor activity upper_aerodigestive_tract(1)|ovary(1)|skin(1) 3 all_cancers(19;4.88e-34)|all_epithelial(40;4.81e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Lung NSC(271;0.0886)|Ovarian(221;0.0905)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.238) Epithelial(32;1.81e-33)|all cancers(36;1.61e-30)|OV - Ovarian serous cystadenocarcinoma(60;6.83e-15)|Kidney(56;1.19e-08)|KIRC - Kidney renal clear cell carcinoma(57;8.98e-08)|BRCA - Breast invasive adenocarcinoma(100;1.49e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00125)|Colorectal(34;0.0199)|COAD - Colon adenocarcinoma(134;0.121) TAGTCAAAGAGATTCTCGCTA 0.453 NA 9 50 0 0 0 0 NINL 22981 broad.mit.edu 37 20 25477346 25477346 + Missense_Mutation SNP C C T TCGA-CV-7407-01A-11D-2078-08 TCGA-CV-7407-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 94631dc8-6dcb-49ed-bb68-e1a57a65f1cb 1ef9d6ea-cd89-4b1f-b699-623bc0293b99 g.chr20:25477346C>T uc002wux.1 - 10 1337 c.1263G>A c.(1261-1263)ATG>ATA p.M421I NINL_uc010gdn.1_Missense_Mutation_p.M421I|NINL_uc010gdo.1_Missense_Mutation_p.M204I|NINL_uc010ztf.1_Missense_Mutation_p.M437I NM_025176 NP_079452 Q9Y2I6 NINL_HUMAN ninein-like 421 Potential. G2/M transition of mitotic cell cycle cytosol|microtubule|microtubule organizing center calcium ion binding ovary(2)|pancreas(1)|central_nervous_system(1)|skin(1) 5 GGCAGTCGTCCATCTCTTTCA 0.602 NA 6 37 0 0 0 0 ERG 2078 broad.mit.edu 37 21 39947591 39947591 + Missense_Mutation SNP T T C TCGA-CV-7407-01A-11D-2078-08 TCGA-CV-7407-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 94631dc8-6dcb-49ed-bb68-e1a57a65f1cb 1ef9d6ea-cd89-4b1f-b699-623bc0293b99 g.chr21:39947591T>C uc010gnw.2 - 3 329 c.34A>G c.(34-36)ATC>GTC p.I12V ERG_uc010gnv.2_Translation_Start_Site|ERG_uc010gnx.2_Missense_Mutation_p.I12V|ERG_uc011ael.1_Missense_Mutation_p.I12V|ERG_uc002yxb.2_Missense_Mutation_p.I12V|ERG_uc002yxc.3_Missense_Mutation_p.I12V|ERG_uc010gnz.2_RNA NM_001136155 NP_001129627 P11308 ERG_HUMAN ets-related isoform 4 12 cell proliferation|multicellular organismal development|protein phosphorylation cytoplasm|nucleus|ribonucleoprotein complex protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity TMPRSS2/ERG(2499)|FUS/ERG(163)|EWSR1/ERG(162) prostate(2499)|bone(167)|haematopoietic_and_lymphoid_tissue(153)|soft_tissue(5)|lung(2)|skin(1)|ovary(1) 2828 Prostate(19;3.6e-06) CTTACCTTGATATGAGCTGCT 0.507 NA 3 29 0 0 0 0 DSCAM 1826 broad.mit.edu 37 21 41496129 41496129 + Missense_Mutation SNP T T C TCGA-CV-7407-01A-11D-2078-08 TCGA-CV-7407-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 94631dc8-6dcb-49ed-bb68-e1a57a65f1cb 1ef9d6ea-cd89-4b1f-b699-623bc0293b99 g.chr21:41496129T>C uc002yyq.1 - 20 4141 c.3689A>G c.(3688-3690)TAT>TGT p.Y1230C DSCAM_uc002yyr.1_RNA NM_001389 NP_001380 O60469 DSCAM_HUMAN Down syndrome cell adhesion molecule isoform 1230 Fibronectin type-III 4.|Extracellular (Potential). cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction protein binding ovary(6)|skin(4)|upper_aerodigestive_tract(1) 11 all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103) TACTGTGGGATAGGGGTGGGA 0.552 NA 15 133 0 0 0 0 DSCAM 1826 broad.mit.edu 37 21 41711195 41711195 + Missense_Mutation SNP T T C TCGA-CV-7407-01A-11D-2078-08 TCGA-CV-7407-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 94631dc8-6dcb-49ed-bb68-e1a57a65f1cb 1ef9d6ea-cd89-4b1f-b699-623bc0293b99 g.chr21:41711195T>C uc002yyq.1 - 7 1810 c.1358A>G c.(1357-1359)CAC>CGC p.H453R DSCAM_uc002yyr.1_RNA NM_001389 NP_001380 O60469 DSCAM_HUMAN Down syndrome cell adhesion molecule isoform 453 Extracellular (Potential).|Ig-like C2-type 5. cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction protein binding ovary(6)|skin(4)|upper_aerodigestive_tract(1) 11 all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103) GCTGATGCGGTGACTGCCACC 0.607 NA 3 36 0 0 0 0 PFKL 5211 broad.mit.edu 37 21 45730967 45730967 + Splice_Site SNP G G T TCGA-CV-7407-01A-11D-2078-08 TCGA-CV-7407-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 94631dc8-6dcb-49ed-bb68-e1a57a65f1cb 1ef9d6ea-cd89-4b1f-b699-623bc0293b99 g.chr21:45730967G>T uc002zel.2 + 3 296 c.237_splice c.e3+1 p.L79_splice PFKL_uc002zek.2_Splice_Site_p.L126_splice|PFKL_uc011afd.1_Splice_Site_p.L126_splice NM_002626 NP_002617 P17858 K6PL_HUMAN liver phosphofructokinase fructose 6-phosphate metabolic process|glycolysis|protein oligomerization 6-phosphofructokinase complex 6-phosphofructokinase activity|ATP binding|fructose-6-phosphate binding|identical protein binding|kinase binding|metal ion binding 0 Colorectal(79;0.0811) CATCCAGCTGGTGAGGCCTGG 0.483 NA 6 20 3.6e-05 3.91e-05 1 0 GGTLC2 91227 broad.mit.edu 37 22 22988944 22988944 + Silent SNP C C G TCGA-CV-7407-01A-11D-2078-08 TCGA-CV-7407-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 94631dc8-6dcb-49ed-bb68-e1a57a65f1cb 1ef9d6ea-cd89-4b1f-b699-623bc0293b99 g.chr22:22988944C>G uc010gtt.2 + 1 163 c.129C>G c.(127-129)GTC>GTG p.V43V LOC96610_uc011aim.1_Intron|POM121L1P_uc011ait.1_5'Flank|GGTLC2_uc010gts.2_Silent_p.V43V NM_199127 NP_954578 Q14390 GGTL2_HUMAN gamma-glutamyltransferase-like 4 isoform 1 43 glutathione biosynthetic process gamma-glutamyltransferase activity ovary(1) 1 all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17) all_hematologic(6;1.3e-31)|Acute lymphoblastic leukemia(6;5.54e-23) READ - Rectum adenocarcinoma(21;0.145) TGTCTGTCGTCGCAGAGGACG 0.652 NA 2 7 0 0 0 0 SFI1 9814 broad.mit.edu 37 22 32011159 32011159 + Nonsense_Mutation SNP C C G TCGA-CV-7407-01A-11D-2078-08 TCGA-CV-7407-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 94631dc8-6dcb-49ed-bb68-e1a57a65f1cb 1ef9d6ea-cd89-4b1f-b699-623bc0293b99 g.chr22:32011159C>G uc003ale.2 + 29 3587 c.3194C>G c.(3193-3195)TCA>TGA p.S1065* SFI1_uc003alf.2_Nonsense_Mutation_p.S1034*|SFI1_uc003alg.2_Nonsense_Mutation_p.S983*|SFI1_uc011alp.1_Nonsense_Mutation_p.S971*|SFI1_uc011alq.1_Nonsense_Mutation_p.S1010*|SFI1_uc003alh.2_RNA|SFI1_uc010gwi.2_RNA|SFI1_uc003ali.2_Nonsense_Mutation_p.S157*|SFI1_uc003alj.2_Nonsense_Mutation_p.S199* NM_001007467 NP_001007468 A8K8P3 SFI1_HUMAN spindle assembly associated Sfi1 homolog isoform 1065 G2/M transition of mitotic cell cycle centriole|cytosol central_nervous_system(1) 1 GGGGCCCTGTCAAGCGCCCCT 0.716 NA 6 29 0 0 0 0 SLC5A4 6527 broad.mit.edu 37 22 32650129 32650129 + Silent SNP C C T TCGA-CV-7407-01A-11D-2078-08 TCGA-CV-7407-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 94631dc8-6dcb-49ed-bb68-e1a57a65f1cb 1ef9d6ea-cd89-4b1f-b699-623bc0293b99 g.chr22:32650129C>T uc003ami.2 - 2 209 c.207G>A c.(205-207)CCG>CCA p.P69P NM_014227 NP_055042 Q9NY91 SC5A4_HUMAN solute carrier family 5 (low affinity glucose 69 Helical; (Potential). carbohydrate transport|sodium ion transport integral to membrane symporter activity 0 ATCCACTTACCGGCCACCAGG 0.403 NA 29 35 0 0 0 0 ZIC1 7545 broad.mit.edu 37 3 147128517 147128517 + Silent SNP G G A TCGA-CV-7407-01A-11D-2078-08 TCGA-CV-7407-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 94631dc8-6dcb-49ed-bb68-e1a57a65f1cb 1ef9d6ea-cd89-4b1f-b699-623bc0293b99 g.chr3:147128517G>A uc003ewe.2 + 1 1337 c.618G>A c.(616-618)GCG>GCA p.A206A NM_003412 NP_003403 Q15915 ZIC1_HUMAN zinc finger protein of the cerebellum 1 206 behavior|brain development|cell differentiation|inner ear morphogenesis|pattern specification process|positive regulation of protein import into nucleus|positive regulation of transcription, DNA-dependent|regulation of smoothened signaling pathway cytoplasm|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1)|central_nervous_system(1) 2 ACATGGCCGCGCATCACGGCG 0.652 NA 14 48 0 0 0 0 SI 6476 broad.mit.edu 37 3 164741544 164741544 + Silent SNP T T A TCGA-CV-7407-01A-11D-2078-08 TCGA-CV-7407-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 94631dc8-6dcb-49ed-bb68-e1a57a65f1cb 1ef9d6ea-cd89-4b1f-b699-623bc0293b99 g.chr3:164741544T>A uc003fei.2 - 26 2975 c.2913A>T c.(2911-2913)GCA>GCT p.A971A NM_001041 NP_001032 P14410 SUIS_HUMAN sucrase-isomaltase 971 Lumenal.|P-type 2.|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) AACACTCAGGTGCTTTGGATA 0.363 NA HNSCC(35;0.089) 18 90 0 0 0 0 EVC 2121 broad.mit.edu 37 4 5755517 5755517 + Missense_Mutation SNP G G A TCGA-CV-7407-01A-11D-2078-08 TCGA-CV-7407-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 94631dc8-6dcb-49ed-bb68-e1a57a65f1cb 1ef9d6ea-cd89-4b1f-b699-623bc0293b99 g.chr4:5755517G>A uc003gil.1 + 10 1505 c.1321G>A c.(1321-1323)GTC>ATC p.V441I EVC_uc003gim.1_RNA|CRMP1_uc003gin.1_Intron NM_153717 NP_714928 P57679 EVC_HUMAN Ellis van Creveld syndrome protein 441 muscle organ development integral to membrane ovary(1)|skin(1) 2 Myeloproliferative disorder(84;0.117) CCCAGAGTTTGTCCAGCGAGG 0.552 NA 5 91 0 0 0 0 ZNF518B 85460 broad.mit.edu 37 4 10444982 10444982 + Missense_Mutation SNP G G A TCGA-CV-7407-01A-11D-2078-08 TCGA-CV-7407-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 94631dc8-6dcb-49ed-bb68-e1a57a65f1cb 1ef9d6ea-cd89-4b1f-b699-623bc0293b99 g.chr4:10444982G>A uc003gmn.2 - 3 3458 c.2971C>T c.(2971-2973)CGC>TGC p.R991C NM_053042 NP_444270 Q9C0D4 Z518B_HUMAN zinc finger protein 518B 991 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(3)|upper_aerodigestive_tract(1) 4 TAGGTCAGGCGTACATGATGC 0.383 NA 16 51 0 0 0 0 IRF2 3660 broad.mit.edu 37 4 185340660 185340660 + Silent SNP T T C TCGA-CV-7407-01A-11D-2078-08 TCGA-CV-7407-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 94631dc8-6dcb-49ed-bb68-e1a57a65f1cb 1ef9d6ea-cd89-4b1f-b699-623bc0293b99 g.chr4:185340660T>C uc003iwf.3 - 3 350 c.150A>G c.(148-150)AAA>AAG p.K50K NM_002199 NP_002190 P14316 IRF2_HUMAN interferon regulatory factor 2 50 IRF tryptophan pentad repeat. blood coagulation|cell proliferation|interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway focal adhesion|nucleoplasm DNA binding|protein binding|sequence-specific DNA binding transcription factor activity ovary(1) 1 all_lung(41;7.86e-14)|Lung NSC(41;1.87e-13)|Colorectal(36;0.00146)|Hepatocellular(41;0.00826)|Renal(120;0.00992)|Prostate(90;0.0115)|all_neural(102;0.0573)|all_hematologic(60;0.0592) all cancers(43;3.94e-27)|Epithelial(43;5.3e-24)|OV - Ovarian serous cystadenocarcinoma(60;1.06e-10)|Colorectal(24;7.98e-07)|STAD - Stomach adenocarcinoma(60;3.95e-05)|GBM - Glioblastoma multiforme(59;8.3e-05)|COAD - Colon adenocarcinoma(29;0.000106)|BRCA - Breast invasive adenocarcinoma(30;0.000311)|LUSC - Lung squamous cell carcinoma(40;0.0128)|READ - Rectum adenocarcinoma(43;0.0419) GTGGTGCATCTTTTTCCACAT 0.398 NA 11 82 0 0 0 0 ADCY2 108 broad.mit.edu 37 5 7695903 7695903 + Missense_Mutation SNP C C A TCGA-CV-7407-01A-11D-2078-08 TCGA-CV-7407-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 94631dc8-6dcb-49ed-bb68-e1a57a65f1cb 1ef9d6ea-cd89-4b1f-b699-623bc0293b99 g.chr5:7695903C>A uc003jdz.1 + 6 975 c.908C>A c.(907-909)GCA>GAA p.A303E ADCY2_uc011cmo.1_Missense_Mutation_p.A123E NM_020546 NP_065433 Q08462 ADCY2_HUMAN adenylate cyclase 2 303 Cytoplasmic (Potential). activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport cytoplasm|dendrite|integral to membrane|plasma membrane ATP binding|metal ion binding ovary(5)|pancreas(1)|skin(1) 7 ACCCGGCTGGCAAGTGACTGC 0.428 NA 15 14 2.32e-09 2.62e-09 1 0 SEMA5A 9037 broad.mit.edu 37 5 9224908 9224908 + Missense_Mutation SNP G G C TCGA-CV-7407-01A-11D-2078-08 TCGA-CV-7407-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 94631dc8-6dcb-49ed-bb68-e1a57a65f1cb 1ef9d6ea-cd89-4b1f-b699-623bc0293b99 g.chr5:9224908G>C uc003jek.2 - 8 1236 c.524C>G c.(523-525)GCT>GGT p.A175G NM_003966 NP_003957 Q13591 SEM5A_HUMAN semaphorin 5A precursor 175 Sema.|Extracellular (Potential). cell adhesion|cell-cell signaling integral to membrane|plasma membrane ovary(1)|central_nervous_system(1) 2 CTCCCCACCAGCTGTGAGGAG 0.572 NA 15 19 0 0 0 0 RICTOR 253260 broad.mit.edu 37 5 38950400 38950400 + Missense_Mutation SNP T T G TCGA-CV-7407-01A-11D-2078-08 TCGA-CV-7407-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 94631dc8-6dcb-49ed-bb68-e1a57a65f1cb 1ef9d6ea-cd89-4b1f-b699-623bc0293b99 g.chr5:38950400T>G uc003jlp.2 - 31 3574 c.3550A>C c.(3550-3552)AAA>CAA p.K1184Q RICTOR_uc003jlo.2_Missense_Mutation_p.K1184Q|RICTOR_uc010ivf.2_Missense_Mutation_p.K899Q NM_152756 NP_689969 Q6R327 RICTR_HUMAN rapamycin-insensitive companion of mTOR 1184 actin cytoskeleton reorganization|embryo development|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of TOR signaling cascade|regulation of protein kinase B signaling cascade|T cell costimulation cytosol|TORC2 complex protein binding ovary(3)|lung(3)|skin(2)|kidney(1)|central_nervous_system(1) 10 all_lung(31;0.000396) TTGGTGAATTTTAAGTCATTT 0.368 NA 29 137 0 0 0 0 CCNB1 891 broad.mit.edu 37 5 68467126 68467126 + Missense_Mutation SNP A A C TCGA-CV-7407-01A-11D-2078-08 TCGA-CV-7407-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 94631dc8-6dcb-49ed-bb68-e1a57a65f1cb 1ef9d6ea-cd89-4b1f-b699-623bc0293b99 g.chr5:68467126A>C uc003jvm.2 + 4 570 c.393A>C c.(391-393)GAA>GAC p.E131D CCNB1_uc011crd.1_Missense_Mutation_p.E131D|CCNB1_uc010ixb.2_Missense_Mutation_p.E131D NM_031966 NP_114172 P14635 CCNB1_HUMAN cyclin B1 131 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|mitotic cell cycle spindle checkpoint|mitotic metaphase plate congression|mitotic prometaphase|mitotic spindle stabilization|positive regulation of attachment of spindle microtubules to kinetochore|positive regulation of mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of cyclin-dependent protein kinase activity condensed nuclear chromosome outer kinetochore|cytosol|microtubule organizing center|nucleoplasm|spindle pole 0 Lung NSC(167;5.51e-05)|Prostate(74;0.00634)|Ovarian(174;0.0448)|Breast(144;0.198) OV - Ovarian serous cystadenocarcinoma(47;1.24e-56)|Epithelial(20;1.12e-52)|all cancers(19;2.63e-48)|Lung(70;0.0177) GCCCAATGGAAACATCTGGAT 0.423 NA 3 46 0 0 0 0 FER 2241 broad.mit.edu 37 5 108233448 108233448 + Missense_Mutation SNP G G C TCGA-CV-7407-01A-11D-2078-08 TCGA-CV-7407-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 94631dc8-6dcb-49ed-bb68-e1a57a65f1cb 1ef9d6ea-cd89-4b1f-b699-623bc0293b99 g.chr5:108233448G>C uc003kop.1 + 10 1519 c.1135G>C c.(1135-1137)GCA>CCA p.A379P FER_uc011cvf.1_Intron|FER_uc011cvg.1_Missense_Mutation_p.A204P NM_005246 NP_005237 P16591 FER_HUMAN fer (fps/fes related) tyrosine kinase 379 Potential. intracellular signal transduction|peptidyl-tyrosine phosphorylation cytoplasm|nucleus ATP binding|non-membrane spanning protein tyrosine kinase activity lung(2)|stomach(1)|ovary(1)|kidney(1) 5 all_cancers(142;2.86e-06)|all_epithelial(76;9.81e-08)|Prostate(80;0.00972)|Lung NSC(167;0.039)|Ovarian(225;0.0448)|all_lung(232;0.0496)|Colorectal(57;0.0986)|Breast(839;0.152) OV - Ovarian serous cystadenocarcinoma(64;6.77e-10)|Epithelial(69;4.13e-08)|COAD - Colon adenocarcinoma(37;0.0174) AAAGTTTTCAGCACAGAAGGA 0.398 NA 4 23 0 0 0 0 PCDHA1 56147 broad.mit.edu 37 5 140167440 140167440 + Missense_Mutation SNP C C T TCGA-CV-7407-01A-11D-2078-08 TCGA-CV-7407-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 94631dc8-6dcb-49ed-bb68-e1a57a65f1cb 1ef9d6ea-cd89-4b1f-b699-623bc0293b99 g.chr5:140167440C>T uc003lhb.2 + 1 1565 c.1565C>T c.(1564-1566)CCC>CTC p.P522L PCDHA1_uc003lha.2_Missense_Mutation_p.P522L|PCDHA1_uc003lgz.2_Missense_Mutation_p.P522L NM_018900 NP_061723 Q9Y5I3 PCDA1_HUMAN protocadherin alpha 1 isoform 1 precursor 522 Cadherin 5.|Extracellular (Potential). homophilic cell adhesion|nervous system development extracellular region|integral to plasma membrane calcium ion binding|protein binding skin(1) 1 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GCACTGCAGCCCCTGGACCAC 0.677 NA 39 35 0 0 0 0 DOCK2 1794 broad.mit.edu 37 5 169508940 169508940 + Missense_Mutation SNP C C A TCGA-CV-7407-01A-11D-2078-08 TCGA-CV-7407-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 94631dc8-6dcb-49ed-bb68-e1a57a65f1cb 1ef9d6ea-cd89-4b1f-b699-623bc0293b99 g.chr5:169508940C>A uc003maf.2 + 51 5462 c.5382C>A c.(5380-5382)GAC>GAA p.D1794E DOCK2_uc011der.1_RNA|DOCK2_uc010jjm.2_Missense_Mutation_p.D1286E|DOCK2_uc003mah.2_Missense_Mutation_p.D350E NM_004946 NP_004937 Q92608 DOCK2_HUMAN dedicator of cytokinesis 2 1794 actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction cytoskeleton|cytosol|endomembrane system|membrane electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding ovary(5)|pancreas(2) 7 Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337) Medulloblastoma(196;0.0399)|all_neural(177;0.0966) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) CAGATGGTGACAAGAAGACAC 0.542 NA 5 38 0.000602214 0.000643315 1 0 RANBP17 64901 broad.mit.edu 37 5 170668104 170668104 + Silent SNP T T G TCGA-CV-7407-01A-11D-2078-08 TCGA-CV-7407-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 94631dc8-6dcb-49ed-bb68-e1a57a65f1cb 1ef9d6ea-cd89-4b1f-b699-623bc0293b99 g.chr5:170668104T>G uc003mba.2 + 23 2611 c.2595T>G c.(2593-2595)GCT>GCG p.A865A RANBP17_uc003mbb.2_Silent_p.A190A|RANBP17_uc003mbd.2_Silent_p.A228A|RANBP17_uc010jjs.2_RNA NM_022897 NP_075048 Q9H2T7 RBP17_HUMAN RAN binding protein 17 865 mRNA transport|protein import into nucleus|transmembrane transport cytoplasm|nuclear pore GTP binding|protein transporter activity ovary(2)|central_nervous_system(1) 3 Renal(175;0.000159)|Lung NSC(126;0.00751)|all_lung(126;0.0123) Medulloblastoma(196;0.0399)|all_neural(177;0.0966) Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516) TACTCCAGGCTTTTGTCAAAA 0.438 NA T TRD@ ALL 32 96 0 0 0 0 DDX41 51428 broad.mit.edu 37 5 176939861 176939861 + Missense_Mutation SNP T T C TCGA-CV-7407-01A-11D-2078-08 TCGA-CV-7407-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 94631dc8-6dcb-49ed-bb68-e1a57a65f1cb 1ef9d6ea-cd89-4b1f-b699-623bc0293b99 g.chr5:176939861T>C uc003mho.2 - 13 1340 c.1319A>G c.(1318-1320)GAG>GGG p.E440G DOK3_uc003mhi.3_5'Flank|DOK3_uc003mhj.3_5'Flank|DOK3_uc003mhl.2_5'Flank|DDX41_uc003mhm.2_Missense_Mutation_p.E220G|DDX41_uc003mhn.2_Missense_Mutation_p.E309G|DDX41_uc003mhp.2_Missense_Mutation_p.E309G|DDX41_uc003mhq.1_Missense_Mutation_p.E220G NM_016222 NP_057306 Q9UJV9 DDX41_HUMAN DEAD-box protein abstrakt 440 Helicase C-terminal. apoptosis|multicellular organismal development catalytic step 2 spliceosome ATP binding|ATP-dependent helicase activity|protein binding|RNA binding|zinc ion binding 0 all_cancers(89;0.00033)|Renal(175;0.000269)|Lung NSC(126;0.00161)|all_lung(126;0.00286) all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.191) TGCCTTCTTCTCTGCAAAGAT 0.607 NA 11 68 0 0 0 0 HIST1H1T 3010 broad.mit.edu 37 6 26107762 26107762 + Missense_Mutation SNP G G A TCGA-CV-7407-01A-11D-2078-08 TCGA-CV-7407-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 94631dc8-6dcb-49ed-bb68-e1a57a65f1cb 1ef9d6ea-cd89-4b1f-b699-623bc0293b99 g.chr6:26107762G>A uc003ngj.2 - 1 603 c.560C>T c.(559-561)GCT>GTT p.A187V NM_005323 NP_005314 P22492 H1T_HUMAN histone cluster 1, H1t 187 cell differentiation|multicellular organismal development|nucleosome assembly|spermatogenesis nucleosome DNA binding ovary(2) 2 TGACTTCGAAGCCCTTGCCTT 0.468 NA 20 99 0 0 0 0 HIST1H2AL 8332 broad.mit.edu 37 6 27833180 27833180 + Silent SNP G G A TCGA-CV-7407-01A-11D-2078-08 TCGA-CV-7407-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 94631dc8-6dcb-49ed-bb68-e1a57a65f1cb 1ef9d6ea-cd89-4b1f-b699-623bc0293b99 g.chr6:27833180G>A uc003njw.2 + 1 74 c.48G>A c.(46-48)AAG>AAA p.K16K NM_003511 NP_003502 P0C0S8 H2A1_HUMAN histone cluster 1, H2al 16 nucleosome assembly nucleosome|nucleus DNA binding|enzyme binding 0 CCAAAGCCAAGACCCGCTCTT 0.637 NA 13 101 0 0 0 0 PGBD1 84547 broad.mit.edu 37 6 28268549 28268549 + Silent SNP G G A TCGA-CV-7407-01A-11D-2078-08 TCGA-CV-7407-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 94631dc8-6dcb-49ed-bb68-e1a57a65f1cb 1ef9d6ea-cd89-4b1f-b699-623bc0293b99 g.chr6:28268549G>A uc003nky.2 + 7 1288 c.918G>A c.(916-918)AGG>AGA p.R306R PGBD1_uc003nkz.2_Silent_p.R306R NM_032507 NP_115896 Q96JS3 PGBD1_HUMAN piggyBac transposable element derived 1 306 viral reproduction membrane|nucleus scavenger receptor activity|sequence-specific DNA binding transcription factor activity ovary(4) 4 CTACTGAAAGGACAGTTGCAC 0.448 NA 4 53 0 0 0 0 OR12D3 81797 broad.mit.edu 37 6 29342160 29342160 + Missense_Mutation SNP T T G TCGA-CV-7407-01A-11D-2078-08 TCGA-CV-7407-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 94631dc8-6dcb-49ed-bb68-e1a57a65f1cb 1ef9d6ea-cd89-4b1f-b699-623bc0293b99 g.chr6:29342160T>G uc003nme.2 - 1 909 c.905A>C c.(904-906)AAA>ACA p.K302T NM_030959 NP_112221 Q9UGF7 O12D3_HUMAN olfactory receptor, family 12, subfamily D, 302 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|breast(1) 3 ACCAAAGATTTTCTTCAGAGC 0.428 NA 4 132 0 0 0 0 COL11A2 1302 broad.mit.edu 37 6 33156845 33156845 + Missense_Mutation SNP C C G rs41268014 TCGA-CV-7407-01A-11D-2078-08 TCGA-CV-7407-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 94631dc8-6dcb-49ed-bb68-e1a57a65f1cb 1ef9d6ea-cd89-4b1f-b699-623bc0293b99 g.chr6:33156845C>G uc003ocx.1 - 3 581 c.353G>C c.(352-354)CGA>CCA p.R118P COL11A2_uc003ocy.1_Missense_Mutation_p.R118P|COL11A2_uc003ocz.1_Missense_Mutation_p.R118P|COL11A2_uc003oda.2_Missense_Mutation_p.R118P NM_080680 NP_542411 P13942 COBA2_HUMAN collagen, type XI, alpha 2 isoform 1 118 TSP N-terminal. cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development collagen type XI extracellular matrix structural constituent conferring tensile strength|protein binding, bridging ovary(3)|skin(2) 5 GCGGACAGGTCGGCCCAGCTC 0.617 NA 4 84 0 0 0 0 SLC26A8 116369 broad.mit.edu 37 6 35919038 35919038 + Missense_Mutation SNP C C T rs115071158 by1000genomes TCGA-CV-7407-01A-11D-2078-08 TCGA-CV-7407-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 94631dc8-6dcb-49ed-bb68-e1a57a65f1cb 1ef9d6ea-cd89-4b1f-b699-623bc0293b99 g.chr6:35919038C>T uc003olm.2 - 19 2485 c.2374G>A c.(2374-2376)GTG>ATG p.V792M SLC26A8_uc010jwa.2_RNA|SLC26A8_uc003olk.2_Missense_Mutation_p.V374M|SLC26A8_uc003oln.2_Missense_Mutation_p.V792M|SLC26A8_uc003oll.2_Missense_Mutation_p.V687M NM_052961 NP_443193 Q96RN1 S26A8_HUMAN solute carrier family 26, member 8 isoform a 792 Interaction with RACGAP1.|STAS.|Cytoplasmic (Potential). cell differentiation|meiosis|multicellular organismal development|spermatogenesis integral to membrane|plasma membrane anion:anion antiporter activity|chloride channel activity|oxalate transmembrane transporter activity|protein binding|sulfate transmembrane transporter activity ovary(2) 2 GCAAACAGCACGGCGTCGTGA 0.488 NA 12 50 0 0 0 0 TCTE1 202500 broad.mit.edu 37 6 44253954 44253954 + Missense_Mutation SNP G G A TCGA-CV-7407-01A-11D-2078-08 TCGA-CV-7407-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 94631dc8-6dcb-49ed-bb68-e1a57a65f1cb 1ef9d6ea-cd89-4b1f-b699-623bc0293b99 g.chr6:44253954G>A uc003oxi.2 - 3 749 c.593C>T c.(592-594)CCG>CTG p.P198L SPATS1_uc003oxg.2_Intron|TMEM151B_uc003oxf.2_Intron NM_182539 NP_872345 Q5JU00 TCTE1_HUMAN t-complex-associated testis expressed 1 198 ovary(2)|skin(2) 4 Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273) Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536) CTGCACCGGCGGAAGGAACTG 0.657 NA 6 33 0 0 0 0 MDN1 23195 broad.mit.edu 37 6 90482425 90482425 + Silent SNP G G A TCGA-CV-7407-01A-11D-2078-08 TCGA-CV-7407-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 94631dc8-6dcb-49ed-bb68-e1a57a65f1cb 1ef9d6ea-cd89-4b1f-b699-623bc0293b99 g.chr6:90482425G>A uc003pnn.1 - 14 2066 c.1950C>T c.(1948-1950)TTC>TTT p.F650F MDN1_uc003pno.1_Silent_p.F68F NM_014611 NP_055426 Q9NU22 MDN1_HUMAN MDN1, midasin homolog 650 protein complex assembly|regulation of protein complex assembly nucleus ATP binding|ATPase activity|unfolded protein binding ovary(8)|skin(2) 10 all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246) BRCA - Breast invasive adenocarcinoma(108;0.0193) GTGTAGCAGCGAAAGTGAACT 0.498 NA 10 51 0 0 0 0 GPR63 81491 broad.mit.edu 37 6 97246956 97246956 + Missense_Mutation SNP G G A TCGA-CV-7407-01A-11D-2078-08 TCGA-CV-7407-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 94631dc8-6dcb-49ed-bb68-e1a57a65f1cb 1ef9d6ea-cd89-4b1f-b699-623bc0293b99 g.chr6:97246956G>A uc010kcl.2 - 3 1130 c.652C>T c.(652-654)CCC>TCC p.P218S GPR63_uc003pou.2_Missense_Mutation_p.P218S NM_001143957 NP_001137429 Q9BZJ6 GPR63_HUMAN G protein-coupled receptor 63 218 Extracellular (Potential). integral to membrane|plasma membrane G-protein coupled receptor activity|protein binding upper_aerodigestive_tract(1)|ovary(1) 2 all_cancers(76;6.89e-05)|Acute lymphoblastic leukemia(125;7.02e-10)|all_hematologic(75;1.23e-06)|all_epithelial(107;0.0618)|Colorectal(196;0.0721) BRCA - Breast invasive adenocarcinoma(108;0.0912) TGCAGGTCGGGGTTTCCTACG 0.463 NA 11 52 0 0 0 0 SYNE1 23345 broad.mit.edu 37 6 152651117 152651117 + Silent SNP C C T TCGA-CV-7407-01A-11D-2078-08 TCGA-CV-7407-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 94631dc8-6dcb-49ed-bb68-e1a57a65f1cb 1ef9d6ea-cd89-4b1f-b699-623bc0293b99 g.chr6:152651117C>T uc010kiw.2 - 78 15305 c.14703G>A c.(14701-14703)AGG>AGA p.R4901R SYNE1_uc003qot.3_Silent_p.R4830R|SYNE1_uc003qou.3_Silent_p.R4901R|SYNE1_uc010kiz.2_Silent_p.R656R NM_182961 NP_892006 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 4901 Cytoplasmic (Potential). cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex actin binding|lamin binding central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2) 45 Ovarian(120;0.0955) BRCA - Breast invasive adenocarcinoma(37;0.243) OV - Ovarian serous cystadenocarcinoma(155;2.24e-10) CCTTCACTCTCCTCAGCCAGT 0.517 NA HNSCC(10;0.0054) 23 59 0 0 0 0 ZNF716 441234 broad.mit.edu 37 7 57528634 57528634 + Missense_Mutation SNP C C T TCGA-CV-7407-01A-11D-2078-08 TCGA-CV-7407-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 94631dc8-6dcb-49ed-bb68-e1a57a65f1cb 1ef9d6ea-cd89-4b1f-b699-623bc0293b99 g.chr7:57528634C>T uc011kdi.1 + 4 579 c.467C>T c.(466-468)ACA>ATA p.T156I NM_001159279 NP_001152751 zinc finger protein 716 ovary(2) 2 CAAAACAAAACATTTCAGACT 0.323 NA 6 10 0 0 0 0 ZNF804B 219578 broad.mit.edu 37 7 88963965 88963965 + Missense_Mutation SNP A A C TCGA-CV-7407-01A-11D-2078-08 TCGA-CV-7407-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 94631dc8-6dcb-49ed-bb68-e1a57a65f1cb 1ef9d6ea-cd89-4b1f-b699-623bc0293b99 g.chr7:88963965A>C uc011khi.1 + 4 2207 c.1669A>C c.(1669-1671)AGT>CGT p.S557R NM_181646 NP_857597 A4D1E1 Z804B_HUMAN zinc finger protein 804B 557 intracellular zinc ion binding ovary(5)|skin(3)|pancreas(2)|upper_aerodigestive_tract(1) 11 all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151) STAD - Stomach adenocarcinoma(171;0.0513) TTTGGACTACAGTGATTCTGA 0.343 NA HNSCC(36;0.09) 7 48 0 0 0 0 TRRAP 8295 broad.mit.edu 37 7 98580905 98580905 + Missense_Mutation SNP G G A TCGA-CV-7407-01A-11D-2078-08 TCGA-CV-7407-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 94631dc8-6dcb-49ed-bb68-e1a57a65f1cb 1ef9d6ea-cd89-4b1f-b699-623bc0293b99 g.chr7:98580905G>A uc003upp.2 + 59 9033 c.8824G>A c.(8824-8826)GAA>AAA p.E2942K TRRAP_uc011kis.1_Missense_Mutation_p.E2924K|TRRAP_uc003upr.2_Missense_Mutation_p.E2641K NM_003496 NP_003487 Q9Y4A5 TRRAP_HUMAN transformation/transcription domain-associated 2942 FAT. histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity ovary(9)|large_intestine(8)|central_nervous_system(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(1)|lung(1)|liver(1) 37 all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274) STAD - Stomach adenocarcinoma(171;0.215) GCAAATCATCGAACTCCAGGA 0.517 NA 6 19 0 0 0 0 CUX1 1523 broad.mit.edu 37 7 101559503 101559503 + Nonsense_Mutation SNP G G T TCGA-CV-7407-01A-11D-2078-08 TCGA-CV-7407-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 94631dc8-6dcb-49ed-bb68-e1a57a65f1cb 1ef9d6ea-cd89-4b1f-b699-623bc0293b99 g.chr7:101559503G>T uc003uyx.3 + 2 177 c.139G>T c.(139-141)GAG>TAG p.E47* CUX1_uc003uys.3_Nonsense_Mutation_p.E58*|CUX1_uc003uyt.2_Nonsense_Mutation_p.E58*|CUX1_uc011kkn.1_Intron|CUX1_uc003uyw.2_Nonsense_Mutation_p.E58*|CUX1_uc003uyv.2_Nonsense_Mutation_p.E58*|CUX1_uc003uyu.2_Nonsense_Mutation_p.E58* NM_181552 NP_853530 P39880 CUX1_HUMAN cut-like homeobox 1 isoform a 47 Potential. negative regulation of transcription from RNA polymerase II promoter nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity ovary(5)|pancreas(1)|central_nervous_system(1)|skin(1) 8 GAACACTCCAGAGGTGAGGCG 0.532 NA 7 55 0.00198382 0.00209435 1 0 FBXL13 222235 broad.mit.edu 37 7 102523890 102523890 + Missense_Mutation SNP G G C TCGA-CV-7407-01A-11D-2078-08 TCGA-CV-7407-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 94631dc8-6dcb-49ed-bb68-e1a57a65f1cb 1ef9d6ea-cd89-4b1f-b699-623bc0293b99 g.chr7:102523890G>C uc003vaq.2 - 14 1677 c.1250C>G c.(1249-1251)TCC>TGC p.S417C FBXL13_uc010liq.1_Intron|FBXL13_uc010lir.1_Missense_Mutation_p.S417C|FBXL13_uc003var.2_RNA|FBXL13_uc003vas.2_Missense_Mutation_p.S417C NM_145032 NP_659469 Q8NEE6 FXL13_HUMAN F-box and leucine-rich repeat protein 13 isoform 417 LRR 8. 0 AAATTTGAAGGATGCATCAGT 0.343 NA 14 37 0 0 0 0 RELN 5649 broad.mit.edu 37 7 103138354 103138354 + Missense_Mutation SNP G G A rs114501042 by1000genomes TCGA-CV-7407-01A-11D-2078-08 TCGA-CV-7407-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 94631dc8-6dcb-49ed-bb68-e1a57a65f1cb 1ef9d6ea-cd89-4b1f-b699-623bc0293b99 g.chr7:103138354G>A uc003vca.2 - 55 9023 c.8863C>T c.(8863-8865)CGC>TGC p.R2955C RELN_uc010liz.2_Missense_Mutation_p.R2955C NM_005045 NP_005036 P78509 RELN_HUMAN reelin isoform a 2955 axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity ovary(8)|upper_aerodigestive_tract(5)|large_intestine(2)|central_nervous_system(2)|skin(1)|pancreas(1) 19 COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184) CTACCGATGCGCCCCCAGTAT 0.468 NA 11 37 0 0 0 0 TFEC 22797 broad.mit.edu 37 7 115580975 115580975 + Missense_Mutation SNP A A C TCGA-CV-7407-01A-11D-2078-08 TCGA-CV-7407-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 94631dc8-6dcb-49ed-bb68-e1a57a65f1cb 1ef9d6ea-cd89-4b1f-b699-623bc0293b99 g.chr7:115580975A>C uc003vhj.1 - 8 858 c.674T>G c.(673-675)ATT>AGT p.I225S TFEC_uc003vhk.1_Missense_Mutation_p.I196S|TFEC_uc003vhl.3_3'UTR|TFEC_uc011kmw.1_3'UTR NM_012252 NP_036384 O14948 TFEC_HUMAN transcription factor EC isoform a 225 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity large_intestine(1) 1 STAD - Stomach adenocarcinoma(10;0.00878) ACGAGCCTGAATTTCTAGTTC 0.388 NA 9 61 0 0 0 0 FEZF1 389549 broad.mit.edu 37 7 121943895 121943895 + Silent SNP G G A TCGA-CV-7407-01A-11D-2078-08 TCGA-CV-7407-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 94631dc8-6dcb-49ed-bb68-e1a57a65f1cb 1ef9d6ea-cd89-4b1f-b699-623bc0293b99 g.chr7:121943895G>A uc003vkd.2 - 1 671 c.597C>T c.(595-597)GCC>GCT p.A199A FEZF1_uc003vkc.2_Silent_p.A149A|uc010lko.1_RNA|uc003vkf.1_5'Flank NM_001024613 NP_001019784 A0PJY2 FEZF1_HUMAN FEZ family zinc finger 1 isoform 1 199 cell differentiation|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(2)|breast(1) 3 TATTCCTTTCGGCTAAATACG 0.557 NA 4 42 0 0 0 0 GRM8 2918 broad.mit.edu 37 7 126882949 126882949 + Missense_Mutation SNP C C G rs147289844 TCGA-CV-7407-01A-11D-2078-08 TCGA-CV-7407-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 94631dc8-6dcb-49ed-bb68-e1a57a65f1cb 1ef9d6ea-cd89-4b1f-b699-623bc0293b99 g.chr7:126882949C>G uc003vlr.2 - 1 621 c.310G>C c.(310-312)GAC>CAC p.D104H GRM8_uc003vls.2_RNA|GRM8_uc011kof.1_RNA|GRM8_uc003vlt.2_Missense_Mutation_p.D104H|GRM8_uc010lkz.1_RNA NM_000845 NP_000836 O00222 GRM8_HUMAN glutamate receptor, metabotropic 8 isoform a 104 Extracellular (Potential). negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception integral to plasma membrane lung(15)|ovary(5)|pancreas(1)|breast(1)|skin(1) 23 Prostate(267;0.186) L-Glutamic Acid(DB00142) GAGCACGTGTCGAGGATGCGG 0.478 NA HNSCC(24;0.065) 11 39 0 0 0 0 GRM8 2918 broad.mit.edu 37 7 126883115 126883115 + Silent SNP C C T TCGA-CV-7407-01A-11D-2078-08 TCGA-CV-7407-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 94631dc8-6dcb-49ed-bb68-e1a57a65f1cb 1ef9d6ea-cd89-4b1f-b699-623bc0293b99 g.chr7:126883115C>T uc003vlr.2 - 1 455 c.144G>A c.(142-144)TTG>TTA p.L48L GRM8_uc003vls.2_RNA|GRM8_uc011kof.1_RNA|GRM8_uc003vlt.2_Silent_p.L48L|GRM8_uc010lkz.1_RNA NM_000845 NP_000836 O00222 GRM8_HUMAN glutamate receptor, metabotropic 8 isoform a 48 Extracellular (Potential). negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception integral to plasma membrane lung(15)|ovary(5)|pancreas(1)|breast(1)|skin(1) 23 Prostate(267;0.186) L-Glutamic Acid(DB00142) AGAGACCCCCCAAAATAATGT 0.527 NA HNSCC(24;0.065) 13 84 0 0 0 0 ERICH1 157697 broad.mit.edu 37 8 614671 614671 + Missense_Mutation SNP C C T TCGA-CV-7407-01A-11D-2078-08 TCGA-CV-7407-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 94631dc8-6dcb-49ed-bb68-e1a57a65f1cb 1ef9d6ea-cd89-4b1f-b699-623bc0293b99 g.chr8:614671C>T uc003wph.2 - 6 1329 c.1264G>A c.(1264-1266)GCC>ACC p.A422T ERICH1_uc011kwh.1_Intron|ERICH1_uc003wpe.1_Intron NM_207332 NP_997215 Q86X53 ERIC1_HUMAN glutamate-rich 1 422 large_intestine(2) 2 Colorectal(14;0.158)|Ovarian(12;0.17)|Myeloproliferative disorder(644;0.185)|Hepatocellular(245;0.236) Epithelial(5;3.29e-14)|BRCA - Breast invasive adenocarcinoma(11;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(5;3.65e-06)|READ - Rectum adenocarcinoma(1;0.0325) ATTACTCTGGCATGGTCTAGA 0.313 NA 4 43 0 0 0 0 TRIM35 23087 broad.mit.edu 37 8 27146779 27146779 + Missense_Mutation SNP C C A TCGA-CV-7407-01A-11D-2078-08 TCGA-CV-7407-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 94631dc8-6dcb-49ed-bb68-e1a57a65f1cb 1ef9d6ea-cd89-4b1f-b699-623bc0293b99 g.chr8:27146779C>A uc003xfl.1 - 5 886 c.804G>T c.(802-804)GAG>GAT p.E268D TRIM35_uc010lup.1_Missense_Mutation_p.A229S NM_171982 NP_741983 Q9UPQ4 TRI35_HUMAN tripartite motif-containing 35 isoform 2 268 apoptosis|induction of apoptosis|negative regulation of mitotic cell cycle cytoplasm|nucleus zinc ion binding 0 Ovarian(32;2.61e-05) UCEC - Uterine corpus endometrioid carcinoma (27;0.0213)|Epithelial(17;9.34e-10)|Colorectal(74;0.141) CTGGCTCTGGCTCCATGGTGC 0.567 NA 3 15 0.004672 0.00487513 1 0 EYA1 2138 broad.mit.edu 37 8 72211931 72211931 + Missense_Mutation SNP C C T TCGA-CV-7407-01A-11D-2078-08 TCGA-CV-7407-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 94631dc8-6dcb-49ed-bb68-e1a57a65f1cb 1ef9d6ea-cd89-4b1f-b699-623bc0293b99 g.chr8:72211931C>T uc003xys.3 - 7 868 c.581G>A c.(580-582)GGA>GAA p.G194E EYA1_uc003xyr.3_Missense_Mutation_p.G189E|EYA1_uc003xyt.3_Missense_Mutation_p.G161E|EYA1_uc010lzf.2_Missense_Mutation_p.G121E|EYA1_uc003xyu.2_Missense_Mutation_p.G194E|EYA1_uc011lfe.1_Missense_Mutation_p.G188E|EYA1_uc003xyv.2_Missense_Mutation_p.G72E NM_172058 NP_742055 Q99502 EYA1_HUMAN eyes absent 1 isoform b 194 double-strand break repair|histone dephosphorylation|positive regulation of DNA repair|protein sumoylation|regulation of transcription, DNA-dependent|response to ionizing radiation|sensory perception of sound|transcription, DNA-dependent cytoplasm|nucleus metal ion binding|protein tyrosine phosphatase activity ovary(2)|central_nervous_system(2)|upper_aerodigestive_tract(1) 5 Breast(64;0.046) Epithelial(68;0.0837)|all cancers(69;0.247) TGTATATATTCCTGATGATGT 0.303 NA 37 55 0 0 0 0 ZFHX4 79776 broad.mit.edu 37 8 77764068 77764068 + Silent SNP C C T TCGA-CV-7407-01A-11D-2078-08 TCGA-CV-7407-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 94631dc8-6dcb-49ed-bb68-e1a57a65f1cb 1ef9d6ea-cd89-4b1f-b699-623bc0293b99 g.chr8:77764068C>T uc003yav.2 + 10 5163 c.4776C>T c.(4774-4776)AGC>AGT p.S1592S ZFHX4_uc003yau.1_Silent_p.S1637S|ZFHX4_uc003yaw.1_Silent_p.S1592S NM_024721 NP_078997 Q86UP3 ZFHX4_HUMAN zinc finger homeodomain 4 1592 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(8)|large_intestine(4)|breast(2)|lung(1) 15 BRCA - Breast invasive adenocarcinoma(89;0.0895) GTGGGCACAGCATTGCAGCAA 0.488 NA HNSCC(33;0.089) 4 45 0 0 0 0 PTPRD 5789 broad.mit.edu 37 9 8507393 8507393 + Missense_Mutation SNP C C G TCGA-CV-7407-01A-11D-2078-08 TCGA-CV-7407-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 94631dc8-6dcb-49ed-bb68-e1a57a65f1cb 1ef9d6ea-cd89-4b1f-b699-623bc0293b99 g.chr9:8507393C>G uc003zkk.2 - 21 2296 c.1585G>C c.(1585-1587)GAA>CAA p.E529Q PTPRD_uc003zkp.2_Missense_Mutation_p.E529Q|PTPRD_uc003zkq.2_Missense_Mutation_p.E529Q|PTPRD_uc003zkr.2_Missense_Mutation_p.E523Q|PTPRD_uc003zks.2_Missense_Mutation_p.E519Q|PTPRD_uc003zkl.2_Missense_Mutation_p.E529Q|PTPRD_uc003zkm.2_Missense_Mutation_p.E516Q|PTPRD_uc003zkn.2_Missense_Mutation_p.E529Q|PTPRD_uc003zko.2_Missense_Mutation_p.E526Q NM_002839 NP_002830 P23468 PTPRD_HUMAN protein tyrosine phosphatase, receptor type, D 529 Fibronectin type-III 3.|Extracellular (Potential). transmembrane receptor protein tyrosine phosphatase signaling pathway integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity lung(14)|large_intestine(3)|ovary(2)|breast(2)|urinary_tract(1) 22 all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824) all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119) ATACTTGTTTCAGACTCAGGT 0.448 NA TSP Lung(15;0.13) 7 261 0 0 0 0 FREM1 158326 broad.mit.edu 37 9 14842546 14842546 + Silent SNP G G A TCGA-CV-7407-01A-11D-2078-08 TCGA-CV-7407-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 94631dc8-6dcb-49ed-bb68-e1a57a65f1cb 1ef9d6ea-cd89-4b1f-b699-623bc0293b99 g.chr9:14842546G>A uc003zlm.2 - 9 2096 c.1506C>T c.(1504-1506)GGC>GGT p.G502G FREM1_uc010mic.2_RNA NM_144966 NP_659403 Q5H8C1 FREM1_HUMAN FRAS1 related extracellular matrix 1 precursor 502 CSPG 2. cell communication|multicellular organismal development basement membrane|integral to membrane metal ion binding|sugar binding ovary(2)|breast(2)|pancreas(1) 5 GBM - Glioblastoma multiforme(50;3.53e-06) TGCTGTGATGGCCATCAAATA 0.507 NA 10 278 0 0 0 0 KIF27 55582 broad.mit.edu 37 9 86495230 86495230 + Silent SNP C C T TCGA-CV-7407-01A-11D-2078-08 TCGA-CV-7407-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 94631dc8-6dcb-49ed-bb68-e1a57a65f1cb 1ef9d6ea-cd89-4b1f-b699-623bc0293b99 g.chr9:86495230C>T uc004ana.2 - 11 2769 c.2625G>A c.(2623-2625)CGG>CGA p.R875R KIF27_uc010mpw.2_Intron|KIF27_uc010mpx.2_Silent_p.R875R NM_017576 NP_060046 Q86VH2 KIF27_HUMAN kinesin family member 27 875 Potential. cilium assembly|microtubule-based movement cilium|cytoplasm|microtubule ATP binding|microtubule motor activity lung(4)|skin(1) 5 TTTGCTGGTCCCGCTTAATTA 0.353 NA 4 77 0 0 0 0 SECISBP2 79048 broad.mit.edu 37 9 91953402 91953402 + Missense_Mutation SNP A A T TCGA-CV-7407-01A-11D-2078-08 TCGA-CV-7407-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 94631dc8-6dcb-49ed-bb68-e1a57a65f1cb 1ef9d6ea-cd89-4b1f-b699-623bc0293b99 g.chr9:91953402A>T uc004aqj.1 + 8 1199 c.1119A>T c.(1117-1119)GAA>GAT p.E373D SECISBP2_uc010mqn.1_Missense_Mutation_p.E334D|SECISBP2_uc004aqi.1_Missense_Mutation_p.E261D|SECISBP2_uc011ltk.1_Missense_Mutation_p.E372D|SECISBP2_uc004aqk.1_Missense_Mutation_p.E300D|SECISBP2_uc010mqo.1_Missense_Mutation_p.E78D|SECISBP2_uc011ltl.1_Missense_Mutation_p.E305D NM_024077 NP_076982 Q96T21 SEBP2_HUMAN SECIS binding protein 2 373 translation nucleus mRNA 3'-UTR binding ovary(2)|skin(1) 3 GTGACCTTGAACAAAATGAAG 0.333 NA 8 60 0 0 0 0 FANCC 2176 broad.mit.edu 37 9 97897696 97897696 + Nonsense_Mutation SNP C C A TCGA-CV-7407-01A-11D-2078-08 TCGA-CV-7407-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 94631dc8-6dcb-49ed-bb68-e1a57a65f1cb 1ef9d6ea-cd89-4b1f-b699-623bc0293b99 g.chr9:97897696C>A uc004avh.2 - 8 1037 c.775G>T c.(775-777)GAA>TAA p.E259* FANCC_uc004avi.3_Nonsense_Mutation_p.E259* NM_000136 NP_000127 Q00597 FANCC_HUMAN Fanconi anemia, complementation group C 259 protein complex assembly cytosol|nucleoplasm protein binding kidney(1) 1 Acute lymphoblastic leukemia(62;0.138) ATTAGCTTTTCAAAAAGATGC 0.428 NA D|Mis|N|F|S AML|leukemia Genes_defective_in_diseases_associated_with_sensitivity_to_DNA_damaging_agents|Involved_in_tolerance_or_repair_of_DNA_crosslinks Fanconi_Anemia 8 39 0.000442599 0.000475629 1 0 LRRC8A 56262 broad.mit.edu 37 9 131670584 131670584 + Missense_Mutation SNP C C G TCGA-CV-7407-01A-11D-2078-08 TCGA-CV-7407-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 94631dc8-6dcb-49ed-bb68-e1a57a65f1cb 1ef9d6ea-cd89-4b1f-b699-623bc0293b99 g.chr9:131670584C>G uc004bwl.3 + 3 1395 c.1141C>G c.(1141-1143)CAA>GAA p.Q381E LRRC8A_uc010myp.2_Missense_Mutation_p.Q381E|LRRC8A_uc010myq.2_Missense_Mutation_p.Q381E NM_019594 NP_062540 Q8IWT6 LRC8A_HUMAN leucine rich repeat containing 8 family, member 381 LRR 1. pre-B cell differentiation integral to membrane 0 CCTCATTGACCAATACGACCC 0.562 NA 6 65 0 0 0 0 EHMT1 79813 broad.mit.edu 37 9 140637837 140637837 + Missense_Mutation SNP G G T TCGA-CV-7407-01A-11D-2078-08 TCGA-CV-7407-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 94631dc8-6dcb-49ed-bb68-e1a57a65f1cb 1ef9d6ea-cd89-4b1f-b699-623bc0293b99 g.chr9:140637837G>T uc011mfc.1 + 5 875 c.838G>T c.(838-840)GTT>TTT p.V280F EHMT1_uc004coa.2_Missense_Mutation_p.V280F|EHMT1_uc004cob.1_Missense_Mutation_p.V249F|EHMT1_uc010ncn.1_RNA NM_024757 NP_079033 Q9H9B1 EHMT1_HUMAN euchromatic histone-lysine N-methyltransferase 1 280 DNA methylation|embryo development|peptidyl-lysine dimethylation|peptidyl-lysine monomethylation chromosome|nucleus histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding breast(2)|pancreas(1) 3 all_cancers(76;0.164) OV - Ovarian serous cystadenocarcinoma(145;0.000183)|Epithelial(140;0.000728) cttgccttttgttttAGCAGC 0.264 NA 7 34 5.18e-06 5.7e-06 1 0 RS1 6247 broad.mit.edu 37 X 18660205 18660205 + Silent SNP G G A TCGA-CV-7407-01A-11D-2078-08 TCGA-CV-7407-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 94631dc8-6dcb-49ed-bb68-e1a57a65f1cb 1ef9d6ea-cd89-4b1f-b699-623bc0293b99 g.chrX:18660205G>A uc004cyo.2 - 6 629 c.594C>T c.(592-594)TTC>TTT p.F198F CDKL5_uc004cym.2_Intron|CDKL5_uc004cyn.2_Intron NM_000330 NP_000321 O15537 XLRS1_HUMAN X-linked juvenile retinoschisis protein 198 F5/8 type C. cell adhesion|multicellular organismal development|response to stimulus|visual perception extracellular space ovary(2) 2 Hepatocellular(33;0.183) TGAGGCGGATGAAGCGGGAGA 0.617 NA 11 48 0 0 0 0 MBTPS2 51360 broad.mit.edu 37 X 21896226 21896226 + Missense_Mutation SNP C C A TCGA-CV-7407-01A-11D-2078-08 TCGA-CV-7407-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 94631dc8-6dcb-49ed-bb68-e1a57a65f1cb 1ef9d6ea-cd89-4b1f-b699-623bc0293b99 g.chrX:21896226C>A uc004dae.2 + 8 1234 c.1037C>A c.(1036-1038)TCC>TAC p.S346Y MBTPS2_uc010nfr.2_Intron NM_015884 NP_056968 O43462 MBTP2_HUMAN membrane-bound transcription factor peptidase, 346 Cys-rich.|Lumenal (Probable). cholesterol metabolic process|proteolysis Golgi membrane|integral to membrane metal ion binding|metalloendopeptidase activity ovary(1) 1 GTGTGCTTTTCCTACAGAAAT 0.343 NA 8 44 0.000157383 0.000170144 1 0 SUV39H1 6839 broad.mit.edu 37 X 48564702 48564702 + Missense_Mutation SNP G G A TCGA-CV-7407-01A-11D-2078-08 TCGA-CV-7407-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 94631dc8-6dcb-49ed-bb68-e1a57a65f1cb 1ef9d6ea-cd89-4b1f-b699-623bc0293b99 g.chrX:48564702G>A uc004dkn.2 + 4 920 c.875G>A c.(874-876)CGT>CAT p.R292H SUV39H1_uc011mmf.1_Missense_Mutation_p.R303H|SUV39H1_uc011mmg.1_RNA NM_003173 NP_003164 O43463 SUV91_HUMAN suppressor of variegation 3-9 homolog 1 292 Mediates interaction with MECOM (By similarity).|SET. cell cycle|cell differentiation|chromatin silencing at rDNA|interspecies interaction between organisms|rRNA processing|transcription, DNA-dependent chromatin silencing complex|chromosome, centromeric region|condensed nuclear chromosome|rDNA heterochromatin chromatin binding|histone methyltransferase activity (H3-K9 specific)|protein N-terminus binding|zinc ion binding 0 ATCTACGACCGTCAGGGCGCC 0.582 NA 4 45 0 0 0 0 DGKK 139189 broad.mit.edu 37 X 50134545 50134545 + Silent SNP G G A TCGA-CV-7407-01A-11D-2078-08 TCGA-CV-7407-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 94631dc8-6dcb-49ed-bb68-e1a57a65f1cb 1ef9d6ea-cd89-4b1f-b699-623bc0293b99 g.chrX:50134545G>A uc010njr.1 - 11 1794 c.1734C>T c.(1732-1734)ACC>ACT p.T578T NM_001013742 NP_001013764 Q5KSL6 DGKK_HUMAN diacylglycerol kinase kappa 578 DAGKc. activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|diacylglycerol metabolic process|intracellular signal transduction|platelet activation|response to oxidative stress cytoplasm|plasma membrane ATP binding|diacylglycerol kinase activity|metal ion binding ovary(1)|kidney(1) 2 Ovarian(276;0.236) GATCATTGCCGGTTCCAAGTG 0.512 NA 7 45 0 0 0 0 ARR3 407 broad.mit.edu 37 X 69496004 69496004 + Missense_Mutation SNP A A T TCGA-CV-7407-01A-11D-2078-08 TCGA-CV-7407-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 94631dc8-6dcb-49ed-bb68-e1a57a65f1cb 1ef9d6ea-cd89-4b1f-b699-623bc0293b99 g.chrX:69496004A>T uc004dyb.2 + 6 286 c.218A>T c.(217-219)AAA>ATA p.K73I ARR3_uc004dya.2_Missense_Mutation_p.K73I NM_004312 NP_004303 P36575 ARRC_HUMAN arrestin 3, retinal (X-arrestin) 73 signal transduction|visual perception cytoplasm|soluble fraction large_intestine(2)|ovary(2) 4 ACGTTCCGAAAAGATCTGTAT 0.542 NA 6 20 0 0 0 0 TCEAL8 90843 broad.mit.edu 37 X 102508843 102508843 + Missense_Mutation SNP C C T TCGA-CV-7407-01A-11D-2078-08 TCGA-CV-7407-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 94631dc8-6dcb-49ed-bb68-e1a57a65f1cb 1ef9d6ea-cd89-4b1f-b699-623bc0293b99 g.chrX:102508843C>T uc004ejx.2 - 3 292 c.65G>A c.(64-66)CGC>CAC p.R22H TCEAL8_uc004ejy.2_Missense_Mutation_p.R22H NM_153333 NP_699164 Q8IYN2 TCAL8_HUMAN transcription elongation factor A (SII)-like 8 22 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ovary(1) 1 CTCCAAAGGGCGATCTTCCTC 0.443 NA 9 139 0 0 0 0 ATP1B4 23439 broad.mit.edu 37 X 119509241 119509241 + Missense_Mutation SNP C C G TCGA-CV-7407-01A-11D-2078-08 TCGA-CV-7407-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 94631dc8-6dcb-49ed-bb68-e1a57a65f1cb 1ef9d6ea-cd89-4b1f-b699-623bc0293b99 g.chrX:119509241C>G uc004esr.2 + 5 661 c.577C>G c.(577-579)CTT>GTT p.L193V ATP1B4_uc004esq.2_Missense_Mutation_p.L189V|ATP1B4_uc011mtx.1_Missense_Mutation_p.L158V|ATP1B4_uc011mty.1_Missense_Mutation_p.L150V NM_001142447 NP_001135919 Q9UN42 AT1B4_HUMAN ATPase, (Na+)/K+ transporting, beta 4 193 Perinuclear space (Potential). ATP biosynthetic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent integral to plasma membrane|nuclear inner membrane sodium:potassium-exchanging ATPase activity ovary(1)|skin(1) 2 TAATGACAGTCTTCAAGAGGA 0.488 NA 10 80 0 0 0 0 GPR112 139378 broad.mit.edu 37 X 135431431 135431431 + Missense_Mutation SNP C C G TCGA-CV-7407-01A-11D-2078-08 TCGA-CV-7407-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 94631dc8-6dcb-49ed-bb68-e1a57a65f1cb 1ef9d6ea-cd89-4b1f-b699-623bc0293b99 g.chrX:135431431C>G uc004ezu.1 + 6 5857 c.5566C>G c.(5566-5568)CCC>GCC p.P1856A GPR112_uc010nsb.1_Missense_Mutation_p.P1651A|GPR112_uc010nsc.1_Missense_Mutation_p.P1623A NM_153834 NP_722576 Q8IZF6 GP112_HUMAN G-protein coupled receptor 112 1856 Extracellular (Potential). neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity ovary(5)|large_intestine(2)|skin(2)|lung(1)|breast(1)|pancreas(1) 12 Acute lymphoblastic leukemia(192;0.000127) CTCTCCTCCTCCCACATCCCA 0.448 NA 17 85 0 0 0 0 MCF2 4168 broad.mit.edu 37 X 138680607 138680607 + Silent SNP G G C TCGA-CV-7407-01A-11D-2078-08 TCGA-CV-7407-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 94631dc8-6dcb-49ed-bb68-e1a57a65f1cb 1ef9d6ea-cd89-4b1f-b699-623bc0293b99 g.chrX:138680607G>C uc004fau.2 - 17 2181 c.1887C>G c.(1885-1887)CTC>CTG p.L629L MCF2_uc004fav.2_Silent_p.L645L|MCF2_uc011mwl.1_Silent_p.L606L|MCF2_uc010nsh.1_Silent_p.L629L|MCF2_uc011mwm.1_Silent_p.L590L|MCF2_uc011mwn.1_Silent_p.L774L|MCF2_uc004faw.2_Silent_p.L689L|MCF2_uc011mwo.1_Silent_p.L705L NM_005369 NP_005360 P10911 MCF2_HUMAN MCF.2 cell line derived transforming sequence 629 DH. apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytoskeleton|cytosol|membrane|membrane fraction protein binding|Rho guanyl-nucleotide exchange factor activity lung(1)|pleura(1) 2 Acute lymphoblastic leukemia(192;0.000127) GCACTGGTTTGAGTAAATAGG 0.299 NA 7 43 0 0 0 0 OR4K17 390436 broad.mit.edu 37 14 20586188 20586188 + Frame_Shift_Del DEL T T - TCGA-CV-7407-01A-11D-2078-08 TCGA-CV-7407-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 94631dc8-6dcb-49ed-bb68-e1a57a65f1cb 1ef9d6ea-cd89-4b1f-b699-623bc0293b99 g.chr14:20586188delT uc001vwo.1 + 1 623 c.623delT c.(622-624)ATTfs p.I208fs NM_001004715 NP_001004715 Q8NGC6 OR4KH_HUMAN olfactory receptor, family 4, subfamily K, 180 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(3) 3 all_cancers(95;0.00108) Epithelial(56;7.58e-07)|all cancers(55;3.77e-06) GBM - Glioblastoma multiforme(265;0.0144) GTAGACAGCATTTTTTGTGAC 0.448 NA 17 150 --- --- --- --- NA NA NA NA CASC5 57082 broad.mit.edu 37 15 40915007 40915010 + Frame_Shift_Del DEL GGAA GGAA - TCGA-CV-7407-01A-11D-2078-08 TCGA-CV-7407-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 94631dc8-6dcb-49ed-bb68-e1a57a65f1cb 1ef9d6ea-cd89-4b1f-b699-623bc0293b99 g.chr15:40915007_40915010delGGAA uc010bbs.1 + 11 2784_2787 c.2623_2626delGGAA c.(2623-2628)GGAAGGfs p.G875fs CASC5_uc010ucq.1_Frame_Shift_Del_p.G699fs|CASC5_uc001zme.2_Frame_Shift_Del_p.G849fs|CASC5_uc010bbt.1_Frame_Shift_Del_p.G849fs NM_170589 NP_733468 Q8NG31 CASC5_HUMAN cancer susceptibility candidate 5 isoform 1 875_876 2 X 104 AA approximate repeats. acrosome assembly|attachment of spindle microtubules to kinetochore|cell division|CenH3-containing nucleosome assembly at centromere|mitotic prometaphase|spindle assembly checkpoint acrosomal vesicle|condensed chromosome kinetochore|cytosol|nucleoplasm protein binding breast(3)|central_nervous_system(1)|skin(1) 5 all_cancers(109;2.03e-18)|all_epithelial(112;4.26e-15)|Lung NSC(122;1.12e-10)|all_lung(180;2.59e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946) GBM - Glioblastoma multiforme(113;4.99e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0861)|COAD - Colon adenocarcinoma(120;0.211) CAAAATTTGGGGAAGGAAAAGTGT 0.319 NA 7 39 --- --- --- --- NA NA NA NA ZNF638 27332 broad.mit.edu 37 2 71653593 71653596 + Frame_Shift_Del DEL CCAT CCAT - TCGA-CV-7407-01A-11D-2078-08 TCGA-CV-7407-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 94631dc8-6dcb-49ed-bb68-e1a57a65f1cb 1ef9d6ea-cd89-4b1f-b699-623bc0293b99 g.chr2:71653593_71653596delCCAT uc002shx.2 + 24 4913_4916 c.4594_4597delCCAT c.(4594-4599)CCATTAfs p.P1532fs ZNF638_uc002shy.2_Frame_Shift_Del_p.P1532fs|ZNF638_uc002shz.2_Frame_Shift_Del_p.P1532fs|ZNF638_uc002sia.2_Frame_Shift_Del_p.P1532fs|ZNF638_uc002sib.1_Frame_Shift_Del_p.S1123fs|ZNF638_uc010fed.2_Intron|ZNF638_uc002sic.2_Frame_Shift_Del_p.P629fs|ZNF638_uc002sid.2_5'UTR NM_014497 NP_055312 Q14966 ZN638_HUMAN zinc finger protein 638 1532_1533 RNA splicing cytoplasm|nuclear speck double-stranded DNA binding|nucleotide binding|RNA binding|zinc ion binding pancreas(2)|ovary(1)|skin(1) 4 CCAACAGGAGCCATTATTTCCATT 0.353 NA 7 52 --- --- --- --- NA NA NA NA NICN1 84276 broad.mit.edu 37 3 49462293 49462293 + Frame_Shift_Del DEL A A - TCGA-CV-7407-01A-11D-2078-08 TCGA-CV-7407-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 94631dc8-6dcb-49ed-bb68-e1a57a65f1cb 1ef9d6ea-cd89-4b1f-b699-623bc0293b99 g.chr3:49462293delA uc003cwz.1 - 6 700 c.615delT c.(613-615)TATfs p.Y205fs AMT_uc011bcn.1_5'Flank|AMT_uc003cww.2_5'Flank|AMT_uc003cwx.2_5'Flank|AMT_uc011bco.1_5'Flank|AMT_uc003cwy.2_5'Flank|AMT_uc011bcp.1_5'Flank|AMT_uc011bcq.1_5'Flank|NICN1_uc003cxa.2_RNA|NICN1_uc011bcr.1_Frame_Shift_Del_p.Y167fs NM_032316 NP_115692 Q9BSH3 NICN1_HUMAN nicolin 1 205 microtubule|nucleus 0 BRCA - Breast invasive adenocarcinoma(193;4.52e-05)|Kidney(197;0.00217)|KIRC - Kidney renal clear cell carcinoma(197;0.00244) AGTTCAGGTCATAACAGCCAT 0.507 NA 17 15 --- --- --- --- NA NA NA NA KIAA0226 9711 broad.mit.edu 37 3 197423824 197423845 + Splice_Site DEL CCATATTCCATGTACAGAGAGC CCATATTCCATGTACAGAGAGC - TCGA-CV-7407-01A-11D-2078-08 TCGA-CV-7407-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 94631dc8-6dcb-49ed-bb68-e1a57a65f1cb 1ef9d6ea-cd89-4b1f-b699-623bc0293b99 g.chr3:197423824_197423845delCCATATTCCATGTACAGAGAGC uc003fyc.2 - 8 1540 c.1357_splice c.e8+1 p.E453_splice KIAA0226_uc003fyd.3_Splice_Site_p.E408_splice|KIAA0226_uc003fye.1_Splice_Site_p.E160_splice|KIAA0226_uc003fyf.2_Splice_Site_p.E301_splice NM_014687 NP_055502 Q92622 RUBIC_HUMAN hypothetical protein LOC9711 isoform 2. autophagy|endocytosis|negative regulation of autophagy|negative regulation of endocytosis early endosome|late endosome|lysosome protein binding 0 all_cancers(143;8.26e-10)|Ovarian(172;0.0418)|Breast(254;0.0976) Epithelial(36;2.19e-23)|all cancers(36;1.39e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.21e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06) GBM - Glioblastoma multiforme(93;0.0446) CTAGTACTCACCATATTCCATGTACAGAGAGCTGGGTGTGCT 0.486 NA 7 27 --- --- --- --- NA NA NA NA