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 NMNAT1 64802 broad.mit.edu 37 1 10032236 10032236 + Missense_Mutation SNP G G C TCGA-CR-6484-01A-11D-1870-08 TCGA-CR-6484-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e72df726-1575-4789-afac-3b15a7643401 b0fa7dd3-58da-45b8-bff4-1d665e21df9f g.chr1:10032236G>C uc001aqp.2 + 2 249 c.105G>C c.(103-105)ATG>ATC p.M35I NM_022787 NP_073624 Q9HAN9 NMNA1_HUMAN nicotinamide mononucleotide adenylyltransferase 35 water-soluble vitamin metabolic process nucleoplasm ATP binding|nicotinamide-nucleotide adenylyltransferase activity|nicotinate-nucleotide adenylyltransferase activity|protein binding 0 all_lung(284;0.000407)|Renal(390;0.000469)|Lung NSC(185;0.000577)|Colorectal(325;0.0062)|Breast(348;0.00686)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.31e-08)|COAD - Colon adenocarcinoma(227;1.54e-05)|Kidney(185;0.00028)|BRCA - Breast invasive adenocarcinoma(304;0.00032)|KIRC - Kidney renal clear cell carcinoma(229;0.00101)|STAD - Stomach adenocarcinoma(132;0.00908)|READ - Rectum adenocarcinoma(331;0.0419) AGGACTACATGAATGGAACAG 0.343 NA 29 150 0 0 0 0 FBLIM1 54751 broad.mit.edu 37 1 16101195 16101195 + Missense_Mutation SNP C C T TCGA-CR-6484-01A-11D-1870-08 TCGA-CR-6484-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e72df726-1575-4789-afac-3b15a7643401 b0fa7dd3-58da-45b8-bff4-1d665e21df9f g.chr1:16101195C>T uc001axd.1 + 8 1237 c.794C>T c.(793-795)TCC>TTC p.S265F FBLIM1_uc001axe.1_Missense_Mutation_p.S265F|FBLIM1_uc001axf.2_RNA|FBLIM1_uc001axg.1_Missense_Mutation_p.S265F|FBLIM1_uc001axh.1_Missense_Mutation_p.S168F|FBLIM1_uc001axi.1_Missense_Mutation_p.S168F NM_017556 NP_060026 Q8WUP2 FBLI1_HUMAN filamin-binding LIM protein-1 isoform a 265 LIM zinc-binding 2. cell adhesion|cell junction assembly|regulation of cell shape cell cortex|cytoskeleton|cytosol|focal adhesion|intracellular membrane-bounded organelle zinc ion binding skin(1) 1 Colorectal(325;0.000257)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.56e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|KIRC - Kidney renal clear cell carcinoma(229;0.00244)|READ - Rectum adenocarcinoma(331;0.0649)|STAD - Stomach adenocarcinoma(313;0.138) TTCCACCCCTCCTGCTTCACG 0.632 NA 10 95 0 0 0 0 SPEN 23013 broad.mit.edu 37 1 16259153 16259153 + Missense_Mutation SNP G G C TCGA-CR-6484-01A-11D-1870-08 TCGA-CR-6484-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e72df726-1575-4789-afac-3b15a7643401 b0fa7dd3-58da-45b8-bff4-1d665e21df9f g.chr1:16259153G>C uc001axk.1 + 11 6622 c.6418G>C c.(6418-6420)GAT>CAT p.D2140H SPEN_uc010obp.1_Missense_Mutation_p.D2099H NM_015001 NP_055816 Q96T58 MINT_HUMAN spen homolog, transcriptional regulator 2140 Interaction with MSX2 (By similarity). interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway nucleus nucleotide binding|protein binding|RNA binding ovary(6)|breast(3)|lung(2)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1) 15 Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681) GTTGAAAAGTGATCCAGTTGA 0.547 NA 26 115 0 0 0 0 IL28RA 163702 broad.mit.edu 37 1 24484051 24484051 + Missense_Mutation SNP C C T TCGA-CR-6484-01A-11D-1870-08 TCGA-CR-6484-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e72df726-1575-4789-afac-3b15a7643401 b0fa7dd3-58da-45b8-bff4-1d665e21df9f g.chr1:24484051C>T uc001bis.2 - 7 1145 c.1132G>A c.(1132-1134)GAA>AAA p.E378K IL28RA_uc001bir.2_Missense_Mutation_p.E349K|IL28RA_uc001bit.2_3'UTR|IL28RA_uc001biu.2_Missense_Mutation_p.E294K NM_170743 NP_734464 Q8IU57 I28RA_HUMAN interleukin 28 receptor, alpha isoform 1 378 Cytoplasmic (Potential). cytokine-mediated signaling pathway|negative regulation of cell proliferation|regulation of defense response to virus by host interleukin-28 receptor complex protein binding|receptor activity 0 Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.00117)|all_lung(284;0.00151)|Ovarian(437;0.00348)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;3.21e-24)|Colorectal(126;6.61e-08)|COAD - Colon adenocarcinoma(152;3.56e-06)|GBM - Glioblastoma multiforme(114;0.000132)|BRCA - Breast invasive adenocarcinoma(304;0.00104)|KIRC - Kidney renal clear cell carcinoma(1967;0.00374)|STAD - Stomach adenocarcinoma(196;0.00918)|READ - Rectum adenocarcinoma(331;0.0656)|Lung(427;0.0853)|LUSC - Lung squamous cell carcinoma(448;0.185) GAGGAGCCTTCGCTTGGGACC 0.627 NA 7 22 0 0 0 0 SFN 2810 broad.mit.edu 37 1 27190100 27190100 + Missense_Mutation SNP G G A TCGA-CR-6484-01A-11D-1870-08 TCGA-CR-6484-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e72df726-1575-4789-afac-3b15a7643401 b0fa7dd3-58da-45b8-bff4-1d665e21df9f g.chr1:27190100G>A uc001bnc.1 + 1 468 c.397G>A c.(397-399)GAG>AAG p.E133K uc010ofi.1_RNA NM_006142 NP_006133 P31947 1433S_HUMAN stratifin 133 DNA damage response, signal transduction resulting in induction of apoptosis|negative regulation of caspase activity|release of cytochrome c from mitochondria cytoplasm|extracellular space|nucleus protein domain specific binding|protein kinase C inhibitor activity 0 all_cancers(24;1.23e-26)|all_epithelial(13;1.19e-23)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Breast(348;0.00017)|Renal(390;0.0007)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.1e-52)|Epithelial(14;2.31e-52)|OV - Ovarian serous cystadenocarcinoma(117;8.22e-30)|Colorectal(126;1.31e-09)|COAD - Colon adenocarcinoma(152;3.45e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000501)|STAD - Stomach adenocarcinoma(196;0.000588)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|READ - Rectum adenocarcinoma(331;0.0419)|GBM - Glioblastoma multiforme(114;0.0767)|Lung(427;0.215) CTACCTGGCCGAGGTGGCCAC 0.622 NA 10 50 0 0 0 0 SPOCD1 90853 broad.mit.edu 37 1 32257825 32257825 + Missense_Mutation SNP C C T TCGA-CR-6484-01A-11D-1870-08 TCGA-CR-6484-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e72df726-1575-4789-afac-3b15a7643401 b0fa7dd3-58da-45b8-bff4-1d665e21df9f g.chr1:32257825C>T uc001bts.1 - 15 3011 c.2953G>A c.(2953-2955)GGG>AGG p.G985R SPOCD1_uc001btr.1_Missense_Mutation_p.G73R|SPOCD1_uc001btt.2_Missense_Mutation_p.G290R|SPOCD1_uc001btu.2_Missense_Mutation_p.G985R|SPOCD1_uc001btv.2_Missense_Mutation_p.G478R NM_144569 NP_653170 Q6ZMY3 SPOC1_HUMAN SPOC domain containing 1 985 transcription, DNA-dependent ovary(5)|breast(1) 6 Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)|Ovarian(437;0.199) STAD - Stomach adenocarcinoma(196;0.18) CCTGGGCCCCCCAAAGGGCGC 0.662 NA 3 7 0 0 0 0 KPNA6 23633 broad.mit.edu 37 1 32622524 32622524 + Missense_Mutation SNP C C G TCGA-CR-6484-01A-11D-1870-08 TCGA-CR-6484-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e72df726-1575-4789-afac-3b15a7643401 b0fa7dd3-58da-45b8-bff4-1d665e21df9f g.chr1:32622524C>G uc001bug.2 + 3 297 c.209C>G c.(208-210)TCT>TGT p.S70C KPNA6_uc001buh.2_5'UTR|KPNA6_uc010ogx.1_Missense_Mutation_p.S67C|KPNA6_uc010ogy.1_Missense_Mutation_p.S75C|KPNA6_uc009vtz.2_Missense_Mutation_p.S9C NM_012316 NP_036448 O60684 IMA7_HUMAN karyopherin alpha 6 70 NLS-bearing substrate import into nucleus cytoplasm|nuclear pore protein binding 0 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174) CTCATGGACTCTTATGTGAGC 0.458 NA 5 78 0 0 0 0 DCDC2B 149069 broad.mit.edu 37 1 32678154 32678154 + Silent SNP T T C TCGA-CR-6484-01A-11D-1870-08 TCGA-CR-6484-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e72df726-1575-4789-afac-3b15a7643401 b0fa7dd3-58da-45b8-bff4-1d665e21df9f g.chr1:32678154T>C uc001bun.2 + 5 591 c.591T>C c.(589-591)TAT>TAC p.Y197Y NM_001099434 NP_001092904 A2VCK2 DCD2B_HUMAN doublecortin domain containing 2B 197 Doublecortin 2. intracellular signal transduction 0 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174) GCCATTACTATGTGGCTGTCG 0.592 NA 7 46 0 0 0 0 MCOLN3 55283 broad.mit.edu 37 1 85488044 85488044 + Missense_Mutation SNP T T C TCGA-CR-6484-01A-11D-1870-08 TCGA-CR-6484-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e72df726-1575-4789-afac-3b15a7643401 b0fa7dd3-58da-45b8-bff4-1d665e21df9f g.chr1:85488044T>C uc001dkp.2 - 10 1228 c.1135A>G c.(1135-1137)ACT>GCT p.T379A MCOLN3_uc001dko.2_5'UTR|MCOLN3_uc001dkq.2_Missense_Mutation_p.T323A NM_018298 NP_060768 Q8TDD5 MCLN3_HUMAN mucolipin 3 379 Helical; (Potential). integral to membrane ion channel activity skin(1) 1 all cancers(265;0.00957)|Epithelial(280;0.0254) ATGGTAGAAGTCCCAAGAAGT 0.368 NA 5 29 0 0 0 0 COL11A1 1301 broad.mit.edu 37 1 103364318 103364318 + Silent SNP A A G TCGA-CR-6484-01A-11D-1870-08 TCGA-CR-6484-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e72df726-1575-4789-afac-3b15a7643401 b0fa7dd3-58da-45b8-bff4-1d665e21df9f g.chr1:103364318A>G uc001dul.2 - 56 4470 c.4152T>C c.(4150-4152)GGT>GGC p.G1384G COL11A1_uc001duk.2_Silent_p.G580G|COL11A1_uc001dum.2_Silent_p.G1396G|COL11A1_uc001dun.2_Silent_p.G1345G|COL11A1_uc009weh.2_Silent_p.G1268G NM_001854 NP_001845 P12107 COBA1_HUMAN alpha 1 type XI collagen isoform A 1384 Triple-helical region. collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception collagen type XI extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging ovary(6)|breast(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1) 12 all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181) Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248) GACCTTCTGCACCTGCTTCCC 0.463 NA 6 53 0 0 0 0 NOTCH2 4853 broad.mit.edu 37 1 120462868 120462868 + Silent SNP C C G TCGA-CR-6484-01A-11D-1870-08 TCGA-CR-6484-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e72df726-1575-4789-afac-3b15a7643401 b0fa7dd3-58da-45b8-bff4-1d665e21df9f g.chr1:120462868C>G uc001eik.2 - 30 5719 c.5463G>C c.(5461-5463)GTG>GTC p.V1821V NM_024408 NP_077719 Q04721 NOTC2_HUMAN notch 2 preproprotein 1821 Cytoplasmic (Potential). anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|Notch receptor processing|Notch signaling pathway|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity lung(8)|haematopoietic_and_lymphoid_tissue(7)|ovary(4)|central_nervous_system(2)|skin(2)|kidney(2)|breast(1)|prostate(1) 27 all_neural(166;0.153) all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809) Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133) CACGGACATTCACATCTAACA 0.587 NA N|F|Mis marginal zone lymphoma|DLBCL Alagille_Syndrome 4 28 0 0 0 0 PSMD4 5710 broad.mit.edu 37 1 151234661 151234661 + Silent SNP G G A TCGA-CR-6484-01A-11D-1870-08 TCGA-CR-6484-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e72df726-1575-4789-afac-3b15a7643401 b0fa7dd3-58da-45b8-bff4-1d665e21df9f g.chr1:151234661G>A uc001exl.2 + 2 113 c.51G>A c.(49-51)CGG>CGA p.R17R PSMD4_uc001exn.2_Silent_p.R17R NM_002810 NP_002801 P55036 PSMD4_HUMAN proteasome 26S non-ATPase subunit 4 17 VWFA. 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|DNA repair|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|regulation of transcription, DNA-dependent|S phase of mitotic cell cycle|viral reproduction proteasome complex protein binding|zinc ion binding 0 Lung SC(34;0.00471)|Ovarian(49;0.0147)|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) AGTATATGCGGAATGGAGACT 0.493 NA 11 93 0 0 0 0 CELF3 11189 broad.mit.edu 37 1 151680372 151680372 + Missense_Mutation SNP C C G TCGA-CR-6484-01A-11D-1870-08 TCGA-CR-6484-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e72df726-1575-4789-afac-3b15a7643401 b0fa7dd3-58da-45b8-bff4-1d665e21df9f g.chr1:151680372C>G uc001eys.1 - 6 1320 c.526G>C c.(526-528)GAG>CAG p.E176Q CELF3_uc010pdh.1_5'UTR|CELF3_uc001eyr.2_Missense_Mutation_p.E175Q|CELF3_uc009wmy.2_Missense_Mutation_p.E176Q|CELF3_uc009wmx.1_Missense_Mutation_p.E176Q|CELF3_uc001eyt.2_Missense_Mutation_p.E99Q|C1orf230_uc001eyu.2_5'Flank NM_007185 NP_009116 Q5SZQ8 CELF3_HUMAN trinucleotide repeat containing 4 176 nuclear mRNA splicing, via spliceosome|regulation of alternative nuclear mRNA splicing, via spliceosome cytoplasm|nucleus mRNA binding|nucleotide binding ovary(1)|central_nervous_system(1) 2 CGCTCCTTCTCAGTGTCAGCA 0.642 NA 4 27 0 0 0 0 KIAA0907 22889 broad.mit.edu 37 1 155893435 155893435 + Missense_Mutation SNP C C T TCGA-CR-6484-01A-11D-1870-08 TCGA-CR-6484-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e72df726-1575-4789-afac-3b15a7643401 b0fa7dd3-58da-45b8-bff4-1d665e21df9f g.chr1:155893435C>T uc001fmi.1 - 8 961 c.937G>A c.(937-939)GAG>AAG p.E313K KIAA0907_uc001fmj.1_Missense_Mutation_p.E313K|KIAA0907_uc009wrk.1_Missense_Mutation_p.E170K|KIAA0907_uc009wrl.1_RNA|KIAA0907_uc001fml.1_Missense_Mutation_p.E313K NM_014949 NP_055764 Q7Z7F0 K0907_HUMAN hypothetical protein LOC22889 313 0 Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195) OV - Ovarian serous cystadenocarcinoma(3;8.82e-06) AAAAGATTCTCACAAAGCTTC 0.383 NA 13 56 0 0 0 0 SMG5 23381 broad.mit.edu 37 1 156238112 156238112 + Missense_Mutation SNP C C T TCGA-CR-6484-01A-11D-1870-08 TCGA-CR-6484-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e72df726-1575-4789-afac-3b15a7643401 b0fa7dd3-58da-45b8-bff4-1d665e21df9f g.chr1:156238112C>T uc001foc.3 - 8 957 c.808G>A c.(808-810)GAG>AAG p.E270K NM_015327 NP_056142 Q9UPR3 SMG5_HUMAN SMG5 homolog nonsense mediated mRNA decay 270 mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation cytoplasm|nucleus protein phosphatase 2A binding ovary(2)|skin(2)|pancreas(1) 5 Hepatocellular(266;0.158) TTCCGAGTCTCACACTTCTTC 0.532 NA 38 267 0 0 0 0 BCAN 63827 broad.mit.edu 37 1 156618362 156618362 + Missense_Mutation SNP G G C TCGA-CR-6484-01A-11D-1870-08 TCGA-CR-6484-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e72df726-1575-4789-afac-3b15a7643401 b0fa7dd3-58da-45b8-bff4-1d665e21df9f g.chr1:156618362G>C uc001fpp.2 + 6 1108 c.772G>C c.(772-774)GAA>CAA p.E258Q BCAN_uc001fpo.2_Missense_Mutation_p.E258Q NM_021948 NP_068767 Q96GW7 PGCB_HUMAN brevican isoform 1 258 Link 2. cell adhesion anchored to membrane|proteinaceous extracellular matrix hyaluronic acid binding|sugar binding ovary(1)|pancreas(1) 2 all_hematologic(923;0.088)|Hepatocellular(266;0.158) ccacCCAGGAGAACTGTTCCT 0.323 NA 11 80 0 0 0 0 NES 10763 broad.mit.edu 37 1 156641455 156641455 + Missense_Mutation SNP G G C TCGA-CR-6484-01A-11D-1870-08 TCGA-CR-6484-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e72df726-1575-4789-afac-3b15a7643401 b0fa7dd3-58da-45b8-bff4-1d665e21df9f g.chr1:156641455G>C uc001fpq.2 - 4 2658 c.2525C>G c.(2524-2526)TCT>TGT p.S842C NM_006617 NP_006608 P48681 NEST_HUMAN nestin 842 Tail. brain development|embryonic camera-type eye development|G2/M transition of mitotic cell cycle|negative regulation of apoptosis|positive regulation of intermediate filament depolymerization|positive regulation of neural precursor cell proliferation|stem cell proliferation cytoplasm|intermediate filament intermediate filament binding|structural molecule activity ovary(6) 6 all_hematologic(923;0.088)|Hepatocellular(266;0.158) AGTTTCTGGAGATTTCAGTGT 0.433 NA 12 126 0 0 0 0 IFI16 3428 broad.mit.edu 37 1 159019357 159019357 + Missense_Mutation SNP C C G TCGA-CR-6484-01A-11D-1870-08 TCGA-CR-6484-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e72df726-1575-4789-afac-3b15a7643401 b0fa7dd3-58da-45b8-bff4-1d665e21df9f g.chr1:159019357C>G uc001ftg.2 + 8 1755 c.1465C>G c.(1465-1467)CCA>GCA p.P489A IFI16_uc010pis.1_Missense_Mutation_p.P489A|IFI16_uc001fth.2_Intron|IFI16_uc010pit.1_Intron NM_005531 NP_005522 Q16666 IF16_HUMAN interferon, gamma-inducible protein 16 489 cell proliferation|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|monocyte differentiation|negative regulation of transcription, DNA-dependent|response to virus|transcription, DNA-dependent cytoplasm|nuclear speck|nucleolus double-stranded DNA binding|protein binding ovary(1) 1 all_hematologic(112;0.0429) TCAGATGCCTCCATCAACACC 0.493 NA 13 159 0 0 0 0 USF1 7391 broad.mit.edu 37 1 161011934 161011934 + Missense_Mutation SNP C C T TCGA-CR-6484-01A-11D-1870-08 TCGA-CR-6484-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e72df726-1575-4789-afac-3b15a7643401 b0fa7dd3-58da-45b8-bff4-1d665e21df9f g.chr1:161011934C>T uc001fxi.2 - 5 443 c.248G>A c.(247-249)GGC>GAC p.G83D USF1_uc001fxj.2_Missense_Mutation_p.G24D NM_007122 NP_009053 P22415 USF1_HUMAN upstream stimulatory factor 1 isoform 1 83 cellular response to insulin stimulus|glucose homeostasis|late viral mRNA transcription|lipid homeostasis|positive regulation of transcription from RNA polymerase II promoter by glucose|response to hypoxia|response to UV transcription factor complex bHLH transcription factor binding|histone deacetylase binding|protein heterodimerization activity|protein homodimerization activity|protein kinase binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1) 3 all_cancers(52;6.73e-18)|Breast(13;0.012)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00122) GGCAGGGTAGCCACTGATGGC 0.547 NA 7 54 0 0 0 0 PFDN2 5202 broad.mit.edu 37 1 161070553 161070553 + Missense_Mutation SNP C C T TCGA-CR-6484-01A-11D-1870-08 TCGA-CR-6484-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e72df726-1575-4789-afac-3b15a7643401 b0fa7dd3-58da-45b8-bff4-1d665e21df9f g.chr1:161070553C>T uc001fxu.2 - 4 435 c.385G>A c.(385-387)GAA>AAA p.E129K NM_012394 NP_036526 Q9UHV9 PFD2_HUMAN prefoldin subunit 2 129 'de novo' posttranslational protein folding prefoldin complex unfolded protein binding 0 all_cancers(52;1.84e-19)|Breast(13;0.00188)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00165) TTCTCATCTTCTCCCATGAGA 0.493 NA 11 94 0 0 0 0 FCGR2C 9103 broad.mit.edu 37 1 161569462 161569462 + Missense_Mutation SNP G G A TCGA-CR-6484-01A-11D-1870-08 TCGA-CR-6484-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e72df726-1575-4789-afac-3b15a7643401 b0fa7dd3-58da-45b8-bff4-1d665e21df9f g.chr1:161569462G>A uc001gav.2 + 8 940 c.841G>A c.(841-843)GAA>AAA p.E281K NM_201563 NP_963857 Fc fragment of IgG, low affinity IIc, receptor 0 all_cancers(52;4.89e-16)|all_hematologic(112;0.0207) BRCA - Breast invasive adenocarcinoma(70;0.00376) gagacaacctgaagaaaccaa 0.199 NA 5 68 0 0 0 0 DDR2 4921 broad.mit.edu 37 1 162741855 162741855 + Missense_Mutation SNP G G C TCGA-CR-6484-01A-11D-1870-08 TCGA-CR-6484-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e72df726-1575-4789-afac-3b15a7643401 b0fa7dd3-58da-45b8-bff4-1d665e21df9f g.chr1:162741855G>C uc001gcf.2 + 14 2011 c.1546G>C c.(1546-1548)GAG>CAG p.E516Q DDR2_uc001gcg.2_Missense_Mutation_p.E516Q NM_001014796 NP_001014796 Q16832 DDR2_HUMAN discoidin domain receptor family, member 2 516 Cytoplasmic (Potential). cell adhesion integral to plasma membrane ATP binding|transmembrane receptor protein tyrosine kinase activity lung(2)|central_nervous_system(2)|ovary(1)|kidney(1) 6 all_hematologic(112;0.115) BRCA - Breast invasive adenocarcinoma(70;0.113) CAGTGGCCCTGAGGGGGTGCC 0.587 NA 3 33 0 0 0 0 UCK2 7371 broad.mit.edu 37 1 165872469 165872469 + Missense_Mutation SNP C C G TCGA-CR-6484-01A-11D-1870-08 TCGA-CR-6484-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e72df726-1575-4789-afac-3b15a7643401 b0fa7dd3-58da-45b8-bff4-1d665e21df9f g.chr1:165872469C>G uc001gdp.2 + 5 731 c.550C>G c.(550-552)CAG>GAG p.Q184E UCK2_uc010plb.1_Missense_Mutation_p.Q46E NM_012474 NP_036606 Q9BZX2 UCK2_HUMAN uridine-cytidine kinase 2 184 Substrate. pyrimidine base metabolic process|pyrimidine nucleoside salvage cytosol ATP binding|phosphotransferase activity, alcohol group as acceptor|uridine kinase activity ovary(1) 1 all_hematologic(923;0.048)|Acute lymphoblastic leukemia(8;0.155) GATTTTATCTCAGTACATTAC 0.408 NA 7 124 0 0 0 0 FMO2 2327 broad.mit.edu 37 1 171154965 171154965 + Missense_Mutation SNP G G A TCGA-CR-6484-01A-11D-1870-08 TCGA-CR-6484-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e72df726-1575-4789-afac-3b15a7643401 b0fa7dd3-58da-45b8-bff4-1d665e21df9f g.chr1:171154965G>A uc001ghk.1 + 2 230 c.113G>A c.(112-114)GGA>GAA p.G38E FMO2_uc010pmd.1_Intron NM_001460 NP_001451 Q99518 FMO2_HUMAN flavin containing monooxygenase 2 38 drug metabolic process|NADPH oxidation|organic acid metabolic process|toxin metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|host cell microsome|integral to 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) GAAGATATTGGAGGAGTGTGG 0.453 NA 14 134 0 0 0 0 RC3H1 149041 broad.mit.edu 37 1 173951999 173951999 + Missense_Mutation SNP C C G TCGA-CR-6484-01A-11D-1870-08 TCGA-CR-6484-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e72df726-1575-4789-afac-3b15a7643401 b0fa7dd3-58da-45b8-bff4-1d665e21df9f g.chr1:173951999C>G uc001gju.3 - 4 721 c.634G>C c.(634-636)GAA>CAA p.E212Q RC3H1_uc010pms.1_Missense_Mutation_p.E212Q|RC3H1_uc001gjv.2_Missense_Mutation_p.E212Q|RC3H1_uc010pmt.1_Missense_Mutation_p.E212Q NM_172071 NP_742068 Q5TC82 RC3H1_HUMAN roquin 212 cytoplasmic mRNA processing body assembly|negative regulation of activated T cell proliferation|negative regulation of B cell proliferation|negative regulation of germinal center formation|negative regulation of T-helper cell differentiation|nuclear-transcribed mRNA catabolic process|regulation of mRNA stability|regulation of T cell receptor signaling pathway cytoplasmic mRNA processing body|stress granule mRNA 3'-UTR binding|ubiquitin-protein ligase activity|zinc ion binding ovary(2) 2 GAACCATCTTCTAAGGCCAGC 0.403 NA 10 131 0 0 0 0 LAMC2 3918 broad.mit.edu 37 1 183209189 183209189 + Silent SNP G G A TCGA-CR-6484-01A-11D-1870-08 TCGA-CR-6484-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e72df726-1575-4789-afac-3b15a7643401 b0fa7dd3-58da-45b8-bff4-1d665e21df9f g.chr1:183209189G>A uc001gqa.2 + 21 3398 c.3084G>A c.(3082-3084)CTG>CTA p.L1028L LAMC2_uc001gpz.3_Silent_p.L1028L|LAMC2_uc010poa.1_Silent_p.L728L NM_005562 NP_005553 Q13753 LAMC2_HUMAN laminin, gamma 2 isoform a precursor 1028 Potential.|Domain II and I. cell adhesion|epidermis development|hemidesmosome assembly heparin binding skin(2)|ovary(1) 3 TTGGGAGTCTGAACTTGGAAG 0.493 NA 17 122 0 0 0 0 HMCN1 83872 broad.mit.edu 37 1 186086731 186086731 + Missense_Mutation SNP G G C TCGA-CR-6484-01A-11D-1870-08 TCGA-CR-6484-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e72df726-1575-4789-afac-3b15a7643401 b0fa7dd3-58da-45b8-bff4-1d665e21df9f g.chr1:186086731G>C uc001grq.1 + 77 12053 c.11824G>C c.(11824-11826)GAT>CAT p.D3942H NM_031935 NP_114141 Q96RW7 HMCN1_HUMAN hemicentin 1 precursor 3942 Ig-like C2-type 38. response to stimulus|visual perception basement membrane calcium ion binding ovary(22)|skin(1) 23 TCCCAGGGGAGATGGCTATAG 0.423 NA 7 86 0 0 0 0 KIF14 9928 broad.mit.edu 37 1 200522745 200522745 + Missense_Mutation SNP G G C TCGA-CR-6484-01A-11D-1870-08 TCGA-CR-6484-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e72df726-1575-4789-afac-3b15a7643401 b0fa7dd3-58da-45b8-bff4-1d665e21df9f g.chr1:200522745G>C uc010ppk.1 - 30 5157 c.4718C>G c.(4717-4719)TCT>TGT p.S1573C KIF14_uc010ppj.1_Missense_Mutation_p.S1082C NM_014875 NP_055690 Q15058 KIF14_HUMAN kinesin family member 14 1573 Required for CIT-binding. microtubule-based movement cytoplasm|microtubule|nucleus|spindle ATP binding|microtubule motor activity|protein binding breast(3)|ovary(2)|skin(2) 7 CTTAGCTAGAGATTCTAGTTC 0.398 NA 9 48 0 0 0 0 CSRP1 1465 broad.mit.edu 37 1 201465408 201465408 + Missense_Mutation SNP C C G TCGA-CR-6484-01A-11D-1870-08 TCGA-CR-6484-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e72df726-1575-4789-afac-3b15a7643401 b0fa7dd3-58da-45b8-bff4-1d665e21df9f g.chr1:201465408C>G uc001gws.2 - 2 215 c.24G>C c.(22-24)AAG>AAC p.K8N CSRP1_uc010ppr.1_Missense_Mutation_p.K8N|CSRP1_uc010pps.1_Missense_Mutation_p.K8N NM_004078 NP_004069 P21291 CSRP1_HUMAN cysteine and glycine-rich protein 1 isoform 1 8 nucleus zinc ion binding ovary(1) 1 CCCCACATTTCTTGCCTCCTC 0.483 NA 20 116 0 0 0 0 ATP2B4 493 broad.mit.edu 37 1 203708719 203708719 + Missense_Mutation SNP C C G TCGA-CR-6484-01A-11D-1870-08 TCGA-CR-6484-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e72df726-1575-4789-afac-3b15a7643401 b0fa7dd3-58da-45b8-bff4-1d665e21df9f g.chr1:203708719C>G uc001gzw.2 + 21 4239 c.3355C>G c.(3355-3357)CAG>GAG p.Q1119E ATP2B4_uc001gzv.2_3'UTR|ATP2B4_uc001gzx.2_Missense_Mutation_p.Q186E|ATP2B4_uc009xar.2_3'UTR NM_001684 NP_001675 P23634 AT2B4_HUMAN plasma membrane calcium ATPase 4 isoform 4b 1155 Cytoplasmic (Potential). ATP biosynthetic process|platelet activation integral to plasma membrane ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding ovary(2)|skin(1) 3 all_cancers(21;0.071)|all_epithelial(62;0.228) BRCA - Breast invasive adenocarcinoma(75;0.109) CGAAAGCATTCAGAAACCCTA 0.488 NA 16 101 0 0 0 0 RPS6KC1 26750 broad.mit.edu 37 1 213414696 213414696 + Nonsense_Mutation SNP C C A TCGA-CR-6484-01A-11D-1870-08 TCGA-CR-6484-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e72df726-1575-4789-afac-3b15a7643401 b0fa7dd3-58da-45b8-bff4-1d665e21df9f g.chr1:213414696C>A uc010ptr.1 + 11 2036 c.1877C>A c.(1876-1878)TCA>TAA p.S626* RPS6KC1_uc001hkd.2_Nonsense_Mutation_p.S614*|RPS6KC1_uc010pts.1_Nonsense_Mutation_p.S414*|RPS6KC1_uc010ptt.1_Nonsense_Mutation_p.S414*|RPS6KC1_uc010ptu.1_Nonsense_Mutation_p.S445*|RPS6KC1_uc010ptv.1_Nonsense_Mutation_p.S161*|RPS6KC1_uc001hke.2_Nonsense_Mutation_p.S445* NM_012424 NP_036556 Q96S38 KS6C1_HUMAN ribosomal protein S6 kinase, 52kDa, polypeptide 626 cell communication|signal transduction early endosome|membrane ATP binding|phosphatidylinositol binding|protein binding|protein serine/threonine kinase activity lung(4)|ovary(3)|breast(1) 8 OV - Ovarian serous cystadenocarcinoma(81;0.00705)|all cancers(67;0.016)|GBM - Glioblastoma multiforme(131;0.0663)|Epithelial(68;0.145) AGTCTAAAATCAGAACCTTTG 0.388 NA 4 42 2.56e-06 2.77e-06 1 0 MIA3 375056 broad.mit.edu 37 1 222803432 222803432 + Missense_Mutation SNP C C T TCGA-CR-6484-01A-11D-1870-08 TCGA-CR-6484-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e72df726-1575-4789-afac-3b15a7643401 b0fa7dd3-58da-45b8-bff4-1d665e21df9f g.chr1:222803432C>T uc001hnl.2 + 4 2879 c.2870C>T c.(2869-2871)TCA>TTA p.S957L MIA3_uc009xea.1_Missense_Mutation_p.S793L NM_198551 NP_940953 Q5JRA6 MIA3_HUMAN melanoma inhibitory activity family, member 3 957 Extracellular (Potential). exocytosis|negative regulation of cell adhesion|negative regulation of cell migration|positive regulation of leukocyte migration|protein transport|wound healing endoplasmic reticulum membrane|integral to membrane protein binding ovary(4)|central_nervous_system(1) 5 GBM - Glioblastoma multiforme(131;0.0199) GAAATGTCATCAAAACTGAAG 0.428 NA 8 58 0 0 0 0 ZP4 57829 broad.mit.edu 37 1 238045807 238045807 + Missense_Mutation SNP G G C TCGA-CR-6484-01A-11D-1870-08 TCGA-CR-6484-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e72df726-1575-4789-afac-3b15a7643401 b0fa7dd3-58da-45b8-bff4-1d665e21df9f g.chr1:238045807G>C uc001hym.2 - 12 1538 c.1538C>G c.(1537-1539)TCT>TGT p.S513C LOC100130331_uc010pyc.1_RNA NM_021186 NP_067009 Q12836 ZP4_HUMAN zona pellucida glycoprotein 4 preproprotein 513 Helical; (Potential). acrosomal vesicle exocytosis|negative regulation of binding of sperm to zona pellucida|positive regulation of acrosome reaction|positive regulation of humoral immune response|positive regulation of protein kinase activity|positive regulation of T cell proliferation|protein kinase A signaling cascade|protein kinase C signaling cascade integral to membrane|intracellular|plasma membrane|proteinaceous extracellular matrix acrosin binding|receptor activity ovary(2)|skin(1) 3 Ovarian(103;0.103) all_cancers(173;0.00175)|all_epithelial(177;0.162)|all_neural(198;0.164)|Melanoma(53;0.211)|Prostate(94;0.214) OV - Ovarian serous cystadenocarcinoma(106;0.00989) TAAGGTCCCAGAAAGGCCTGC 0.453 NA 15 75 0 0 0 0 OR2T12 127064 broad.mit.edu 37 1 248458752 248458752 + Missense_Mutation SNP C C A TCGA-CR-6484-01A-11D-1870-08 TCGA-CR-6484-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e72df726-1575-4789-afac-3b15a7643401 b0fa7dd3-58da-45b8-bff4-1d665e21df9f g.chr1:248458752C>A uc010pzj.1 - 1 129 c.129G>T c.(127-129)ATG>ATT p.M43I NM_001004692 NP_001004692 Q8NG77 O2T12_HUMAN olfactory receptor, family 2, subfamily T, 43 Helical; Name=1; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2)|ovary(1) 3 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0201) TCAGGAGAATCATGAGGGCAT 0.522 NA 21 83 4.16e-05 4.45e-05 1 0 OR2M7 391196 broad.mit.edu 37 1 248486993 248486993 + Missense_Mutation SNP C C T TCGA-CR-6484-01A-11D-1870-08 TCGA-CR-6484-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e72df726-1575-4789-afac-3b15a7643401 b0fa7dd3-58da-45b8-bff4-1d665e21df9f g.chr1:248486993C>T uc010pzk.1 - 1 878 c.878G>A c.(877-879)CGC>CAC p.R293H NM_001004691 NP_001004691 Q8NG81 OR2M7_HUMAN olfactory receptor, family 2, subfamily M, 293 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2) 2 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0265) TTCCTTGTTGCGGAGGCTATA 0.428 NA 16 43 0 0 0 0 C10orf18 54906 broad.mit.edu 37 10 5789019 5789019 + Missense_Mutation SNP C C A TCGA-CR-6484-01A-11D-1870-08 TCGA-CR-6484-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e72df726-1575-4789-afac-3b15a7643401 b0fa7dd3-58da-45b8-bff4-1d665e21df9f g.chr10:5789019C>A uc001iij.2 + 15 4260 c.3635C>A c.(3634-3636)TCT>TAT p.S1212Y C10orf18_uc001iik.2_Missense_Mutation_p.S56Y NM_017782 NP_060252 Q5VWN6 CJ018_HUMAN hypothetical protein LOC54906 1212 ovary(1)|central_nervous_system(1) 2 TCATCAGCCTCTACCACCTTG 0.473 NA 8 81 0.00621372 0.00641564 1 0 C10orf18 54906 broad.mit.edu 37 10 5789105 5789105 + Missense_Mutation SNP C C T TCGA-CR-6484-01A-11D-1870-08 TCGA-CR-6484-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e72df726-1575-4789-afac-3b15a7643401 b0fa7dd3-58da-45b8-bff4-1d665e21df9f g.chr10:5789105C>T uc001iij.2 + 15 4346 c.3721C>T c.(3721-3723)CAC>TAC p.H1241Y C10orf18_uc001iik.2_Missense_Mutation_p.H85Y NM_017782 NP_060252 Q5VWN6 CJ018_HUMAN hypothetical protein LOC54906 1241 ovary(1)|central_nervous_system(1) 2 AAGGAAGAATCACAAGAATGG 0.423 NA 8 61 0 0 0 0 ABI1 10006 broad.mit.edu 37 10 27048143 27048143 + Missense_Mutation SNP G G A TCGA-CR-6484-01A-11D-1870-08 TCGA-CR-6484-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e72df726-1575-4789-afac-3b15a7643401 b0fa7dd3-58da-45b8-bff4-1d665e21df9f g.chr10:27048143G>A uc001isx.2 - 9 1093 c.926C>T c.(925-927)TCC>TTC p.S309F ABI1_uc001ite.2_Missense_Mutation_p.S276F|ABI1_uc010qdh.1_Intron|ABI1_uc010qdi.1_Intron|ABI1_uc001isy.2_Missense_Mutation_p.S282F|ABI1_uc001ita.2_Missense_Mutation_p.S282F|ABI1_uc001isz.2_Missense_Mutation_p.S277F|ABI1_uc001itb.2_Missense_Mutation_p.S326F|ABI1_uc001itc.2_Missense_Mutation_p.S281F|ABI1_uc010qdj.1_Intron|ABI1_uc001itd.2_Missense_Mutation_p.S281F|ABI1_uc010qdk.1_Intron|ABI1_uc010qdg.1_Missense_Mutation_p.S148F NM_005470 NP_005461 Q8IZP0 ABI1_HUMAN abl-interactor 1 isoform a 309 Pro-rich. actin polymerization or depolymerization|cellular component movement|negative regulation of cell proliferation|peptidyl-tyrosine phosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway cell junction|cytoskeleton|cytosol|endoplasmic reticulum|filopodium|growth cone|lamellipodium|nucleus|soluble fraction|synapse|synaptosome cytoskeletal protein binding central_nervous_system(1) 1 GCCATACTGGGAACCAGGAGC 0.483 NA 14 56 0 0 0 0 AGAP6 414189 broad.mit.edu 37 10 51749089 51749089 + Missense_Mutation SNP C C G TCGA-CR-6484-01A-11D-1870-08 TCGA-CR-6484-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e72df726-1575-4789-afac-3b15a7643401 b0fa7dd3-58da-45b8-bff4-1d665e21df9f g.chr10:51749089C>G uc001jix.3 + 2 643 c.245C>G c.(244-246)GCC>GGC p.A82G NM_001077665 NP_001071133 Q5VW22 AGAP6_HUMAN ArfGAP with GTPase domain, ankyrin repeat and PH 82 regulation of ARF GTPase activity ARF GTPase activator activity|zinc ion binding skin(1) 1 AACCTTTCTGCCAATCCAGAG 0.343 NA 3 75 0 0 0 0 DDX21 9188 broad.mit.edu 37 10 70737337 70737337 + Missense_Mutation SNP G G A TCGA-CR-6484-01A-11D-1870-08 TCGA-CR-6484-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e72df726-1575-4789-afac-3b15a7643401 b0fa7dd3-58da-45b8-bff4-1d665e21df9f g.chr10:70737337G>A uc001jov.1 + 12 1885 c.1795G>A c.(1795-1797)GAG>AAG p.E599K DDX21_uc001jow.1_Missense_Mutation_p.E531K NM_004728 NP_004719 Q9NR30 DDX21_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 21 599 nucleolus ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding ovary(2)|kidney(1) 3 ACAATCAGCTGAGAAGCTGAT 0.507 NA 16 117 0 0 0 0 POLR3A 11128 broad.mit.edu 37 10 79742546 79742546 + Missense_Mutation SNP G G C TCGA-CR-6484-01A-11D-1870-08 TCGA-CR-6484-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e72df726-1575-4789-afac-3b15a7643401 b0fa7dd3-58da-45b8-bff4-1d665e21df9f g.chr10:79742546G>C uc001jzn.2 - 27 3553 c.3459C>G c.(3457-3459)ATC>ATG p.I1153M NM_007055 NP_008986 O14802 RPC1_HUMAN polymerase (RNA) III (DNA directed) polypeptide 1153 innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter DNA-directed RNA polymerase III complex DNA binding|DNA-directed RNA polymerase activity|ribonucleoside binding|zinc ion binding 0 all_cancers(46;0.0356)|all_epithelial(25;0.00102)|Breast(12;0.00124)|Prostate(51;0.0095) Epithelial(14;0.00161)|OV - Ovarian serous cystadenocarcinoma(4;0.00323)|all cancers(16;0.00646) TGGATGTGCAGATGGAATATC 0.433 NA 7 41 0 0 0 0 LRIT2 340745 broad.mit.edu 37 10 85981835 85981835 + Silent SNP G G A rs140185624 byFrequency TCGA-CR-6484-01A-11D-1870-08 TCGA-CR-6484-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e72df726-1575-4789-afac-3b15a7643401 b0fa7dd3-58da-45b8-bff4-1d665e21df9f g.chr10:85981835G>A uc001kcy.2 - 3 1502 c.1494C>T c.(1492-1494)CGC>CGT p.R498R LRIT2_uc010qmc.1_Silent_p.R508R NM_001017924 NP_001017924 A6NDA9 LRIT2_HUMAN leucine rich repeat containing 22 precursor 498 integral to membrane ovary(2) 2 GAAGACAGCCGCGCAGGACCC 0.632 NA 18 65 0 0 0 0 KIF20B 9585 broad.mit.edu 37 10 91505671 91505671 + Missense_Mutation SNP C C G TCGA-CR-6484-01A-11D-1870-08 TCGA-CR-6484-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e72df726-1575-4789-afac-3b15a7643401 b0fa7dd3-58da-45b8-bff4-1d665e21df9f g.chr10:91505671C>G uc001kgs.1 + 23 4123 c.4051C>G c.(4051-4053)CAG>GAG p.Q1351E KIF20B_uc001kgr.1_Missense_Mutation_p.Q1311E|KIF20B_uc001kgt.1_Missense_Mutation_p.Q562E|KIF20B_uc009xtw.1_RNA NM_016195 NP_057279 Q96Q89 KI20B_HUMAN M-phase phosphoprotein 1 1351 cell cycle arrest|cell division|microtubule-based movement|mitosis|regulation of mitosis centrosome|microtubule|nucleolus|nucleoplasm|spindle ATP binding|ATPase activity|microtubule motor activity|WW domain binding ovary(1)|pancreas(1)|skin(1) 3 GTTAAATAATCAGAAAGTGGA 0.264 NA 3 30 0 0 0 0 PKD2L1 9033 broad.mit.edu 37 10 102048203 102048203 + Missense_Mutation SNP C C G TCGA-CR-6484-01A-11D-1870-08 TCGA-CR-6484-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e72df726-1575-4789-afac-3b15a7643401 b0fa7dd3-58da-45b8-bff4-1d665e21df9f g.chr10:102048203C>G uc001kqx.1 - 16 2751 c.2368G>C c.(2368-2370)GAG>CAG p.E790Q BLOC1S2_uc001kqv.1_5'Flank|BLOC1S2_uc001kqw.1_5'Flank|PKD2L1_uc009xwm.1_Missense_Mutation_p.E743Q NM_016112 NP_057196 Q9P0L9 PK2L1_HUMAN polycystic kidney disease 2-like 1 790 Cytoplasmic (Potential). signal transduction integral to membrane calcium activated cation channel activity|calcium ion binding|cytoskeletal protein binding ovary(4) 4 Colorectal(252;0.117) Epithelial(162;6.15e-10)|all cancers(201;5.14e-08) CTCCTCTCCTCTAAGGCTTCC 0.488 NA 24 132 0 0 0 0 DPCD 25911 broad.mit.edu 37 10 103360965 103360965 + Missense_Mutation SNP C C G TCGA-CR-6484-01A-11D-1870-08 TCGA-CR-6484-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e72df726-1575-4789-afac-3b15a7643401 b0fa7dd3-58da-45b8-bff4-1d665e21df9f g.chr10:103360965C>G uc001ktn.2 + 4 281 c.276C>G c.(274-276)ATC>ATG p.I92M hsa-mir-3158-1|MI0014186_5'Flank NM_015448 NP_056263 Q9BVM2 DPCD_HUMAN DPCD protein 92 protein binding skin(1) 1 TGCAGCCTATCTTCATGCGCA 0.552 NA 10 72 0 0 0 0 LDB1 8861 broad.mit.edu 37 10 103871248 103871248 + Missense_Mutation SNP G G A TCGA-CR-6484-01A-11D-1870-08 TCGA-CR-6484-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e72df726-1575-4789-afac-3b15a7643401 b0fa7dd3-58da-45b8-bff4-1d665e21df9f g.chr10:103871248G>A uc009xwz.2 - 2 414 c.71C>T c.(70-72)CCG>CTG p.P24L LDB1_uc001kuk.3_5'UTR|LDB1_uc001kul.3_5'UTR NM_001113407 NP_001106878 Q86U70 LDB1_HUMAN LIM domain binding 1 isoform 1 24 histone H3-K4 acetylation|negative regulation of erythrocyte differentiation|negative regulation of transcription, DNA-dependent|positive regulation of hemoglobin biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription elongation, DNA-dependent|transcription, DNA-dependent|transcription-dependent tethering of RNA polymerase II gene DNA at nuclear periphery nuclear chromatin|protein complex LIM domain binding|protein homodimerization activity|transcription corepressor activity large_intestine(1) 1 Colorectal(252;0.122) Epithelial(162;1.11e-07)|all cancers(201;1.82e-06) GTTGCCGTTCGGGGGCTCCTT 0.468 NA 7 34 0 0 0 0 AFAP1L2 84632 broad.mit.edu 37 10 116057054 116057054 + Silent SNP C C G TCGA-CR-6484-01A-11D-1870-08 TCGA-CR-6484-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e72df726-1575-4789-afac-3b15a7643401 b0fa7dd3-58da-45b8-bff4-1d665e21df9f g.chr10:116057054C>G uc001lbn.2 - 17 2533 c.2232G>C c.(2230-2232)CTG>CTC p.L744L AFAP1L2_uc001lbo.2_Silent_p.L744L|AFAP1L2_uc010qse.1_Silent_p.L797L|AFAP1L2_uc001lbp.2_Silent_p.L772L|AFAP1L2_uc001lbm.2_Silent_p.L183L|AFAP1L2_uc010qsd.1_Silent_p.L310L|AFAP1L2_uc001lbq.1_Silent_p.L266L NM_001001936 NP_001001936 Q8N4X5 AF1L2_HUMAN KIAA1914 protein isoform 1 744 Potential. inflammatory response|positive regulation of epidermal growth factor receptor signaling pathway|positive regulation of interleukin-8 production|positive regulation of transcription, DNA-dependent|regulation of interleukin-6 production|regulation of mitotic cell cycle cytoplasm protein tyrosine kinase activator activity|SH2 domain binding|SH3 domain binding ovary(1)|breast(1) 2 Colorectal(252;0.175)|Breast(234;0.231) Epithelial(162;0.0219)|all cancers(201;0.0561) CAGCCTTCTTCAGGTTGTCCT 0.627 NA 6 34 0 0 0 0 INPP5F 22876 broad.mit.edu 37 10 121556365 121556365 + Missense_Mutation SNP G G C TCGA-CR-6484-01A-11D-1870-08 TCGA-CR-6484-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e72df726-1575-4789-afac-3b15a7643401 b0fa7dd3-58da-45b8-bff4-1d665e21df9f g.chr10:121556365G>C uc001leo.2 + 7 974 c.808G>C c.(808-810)GAT>CAT p.D270H NM_014937 NP_055752 Q9Y2H2 SAC2_HUMAN inositol polyphosphate-5-phosphatase F 270 SAC. phosphoric ester hydrolase activity ovary(2) 2 Lung NSC(174;0.109)|all_lung(145;0.142) all cancers(201;0.00205)|BRCA - Breast invasive adenocarcinoma(275;0.158) CACCTGTGTAGATGATATTCA 0.468 NA 4 60 0 0 0 0 C10orf137 26098 broad.mit.edu 37 10 127429586 127429586 + Silent SNP C C G TCGA-CR-6484-01A-11D-1870-08 TCGA-CR-6484-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e72df726-1575-4789-afac-3b15a7643401 b0fa7dd3-58da-45b8-bff4-1d665e21df9f g.chr10:127429586C>G uc001liq.1 + 17 2480 c.2187C>G c.(2185-2187)CTC>CTG p.L729L C10orf137_uc001lin.2_Silent_p.L695L|C10orf137_uc001lio.1_Silent_p.L695L|C10orf137_uc001lip.1_Silent_p.L433L|C10orf137_uc001lir.2_Silent_p.L223L|C10orf137_uc001lis.1_Silent_p.L55L NM_015608 NP_056423 Q3B7T1 EDRF1_HUMAN erythroid differentiation-related factor 1 729 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus binding ovary(5)|large_intestine(3)|lung(2) 10 all_lung(145;0.0096)|Lung NSC(174;0.0145)|Colorectal(57;0.0846)|all_neural(114;0.0936) ATTGCTGCCTCTGCACCAATA 0.363 NA 29 103 0 0 0 0 MGMT 4255 broad.mit.edu 37 10 131557595 131557595 + Missense_Mutation SNP G G A TCGA-CR-6484-01A-11D-1870-08 TCGA-CR-6484-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e72df726-1575-4789-afac-3b15a7643401 b0fa7dd3-58da-45b8-bff4-1d665e21df9f g.chr10:131557595G>A uc001lkh.2 + 4 523 c.497G>A c.(496-498)AGA>AAA p.R166K NM_002412 NP_002403 P16455 MGMT_HUMAN O-6-methylguanine-DNA methyltransferase 135 ovary(1)|breast(1) 2 all_cancers(35;9.44e-09)|all_epithelial(44;6.98e-08)|Lung NSC(174;0.0157)|all_lung(145;0.0201)|all_neural(114;0.0732)|Colorectal(57;0.0792)|Breast(234;0.167) OV - Ovarian serous cystadenocarcinoma(35;0.00291) GGAGCAATGAGAGGCAATCCT 0.577 NA Direct_reversal_of_damage 11 46 0 0 0 0 PHRF1 57661 broad.mit.edu 37 11 609574 609574 + Missense_Mutation SNP C C G TCGA-CR-6484-01A-11D-1870-08 TCGA-CR-6484-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e72df726-1575-4789-afac-3b15a7643401 b0fa7dd3-58da-45b8-bff4-1d665e21df9f g.chr11:609574C>G uc001lqe.2 + 14 4249 c.4118C>G c.(4117-4119)TCT>TGT p.S1373C PHRF1_uc010qwc.1_Missense_Mutation_p.S1372C|PHRF1_uc010qwd.1_Missense_Mutation_p.S1371C|PHRF1_uc010qwe.1_Missense_Mutation_p.S1369C|PHRF1_uc009ybz.1_Missense_Mutation_p.S1163C|PHRF1_uc009yca.1_RNA NM_020901 NP_065952 Q9P1Y6 PHRF1_HUMAN PHD and ring finger domains 1 1373 RNA polymerase binding|zinc ion binding 0 GACAGCCCCTCTGCGAGTGGG 0.682 NA 3 13 0 0 0 0 LRDD 55367 broad.mit.edu 37 11 799973 799973 + Silent SNP G G C TCGA-CR-6484-01A-11D-1870-08 TCGA-CR-6484-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e72df726-1575-4789-afac-3b15a7643401 b0fa7dd3-58da-45b8-bff4-1d665e21df9f g.chr11:799973G>C uc001lro.1 - 15 2458 c.2316C>G c.(2314-2316)CTC>CTG p.L772L SLC25A22_uc009yci.2_5'Flank|SLC25A22_uc001lrj.2_5'Flank|LRDD_uc009yck.1_RNA|LRDD_uc001lrk.1_Silent_p.L755L|LRDD_uc001lrl.1_Silent_p.L615L|LRDD_uc001lrm.1_Silent_p.L459L|LRDD_uc001lrn.1_Silent_p.L615L|LRDD_uc001lrp.1_Missense_Mutation_p.S456C NM_145886 NP_665893 Q9HB75 PIDD_HUMAN leucine rich repeat and death domain containing 772 apoptosis|signal transduction cytoplasm|nucleus death receptor binding 0 all_cancers(49;1.13e-08)|all_epithelial(84;2.95e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.159)|all_lung(207;0.198) all cancers(45;1.45e-25)|Epithelial(43;1.17e-24)|OV - Ovarian serous cystadenocarcinoma(40;6.76e-19)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703) GTGCCAAGGAGAGGCCAGCCC 0.632 NA 9 42 0 0 0 0 KRTAP5-3 387266 broad.mit.edu 37 11 1629200 1629200 + Nonsense_Mutation SNP G G C TCGA-CR-6484-01A-11D-1870-08 TCGA-CR-6484-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e72df726-1575-4789-afac-3b15a7643401 b0fa7dd3-58da-45b8-bff4-1d665e21df9f g.chr11:1629200G>C uc001ltw.1 - 1 494 c.416C>G c.(415-417)TCA>TGA p.S139* NM_001012708 NP_001012726 Q6L8H2 KRA53_HUMAN keratin associated protein 5-3 139 11 X 4 AA repeats of C-C-X-P. keratin filament ovary(2) 2 all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.000618)|Lung(200;0.0684)|LUSC - Lung squamous cell carcinoma(625;0.0822) CCCACAGCCTGAGGAGCAGCA 0.547 NA 26 156 0 0 0 0 TNNT3 7140 broad.mit.edu 37 11 1956113 1956113 + Missense_Mutation SNP C C G TCGA-CR-6484-01A-11D-1870-08 TCGA-CR-6484-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e72df726-1575-4789-afac-3b15a7643401 b0fa7dd3-58da-45b8-bff4-1d665e21df9f g.chr11:1956113C>G uc001luu.3 + 14 857 c.645C>G c.(643-645)TTC>TTG p.F215L TNNT3_uc001lun.2_Missense_Mutation_p.F111L|TNNT3_uc001luw.3_Missense_Mutation_p.F207L|TNNT3_uc001luo.3_Missense_Mutation_p.F207L|TNNT3_uc001lup.3_Missense_Mutation_p.F213L|TNNT3_uc001luq.3_Missense_Mutation_p.F207L|TNNT3_uc001lur.2_Missense_Mutation_p.F207L|TNNT3_uc010qxf.1_Missense_Mutation_p.F213L|TNNT3_uc010qxg.1_Missense_Mutation_p.F147L NM_006757 NP_006748 P45378 TNNT3_HUMAN troponin T3, skeletal, fast isoform 1 226 muscle filament sliding|regulation of ATPase activity|regulation of striated muscle contraction|skeletal muscle contraction cytosol|troponin complex calcium-dependent protein binding|tropomyosin binding|troponin C binding|troponin I binding ovary(1) 1 all_epithelial(84;0.000138)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.00253)|Lung(200;0.0333)|LUSC - Lung squamous cell carcinoma(625;0.0826) TTGACAAGTTCGAGTTTGGGG 0.597 NA 32 135 0 0 0 0 OR56A5 390084 broad.mit.edu 37 11 5988969 5988969 + Silent SNP G G C TCGA-CR-6484-01A-11D-1870-08 TCGA-CR-6484-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e72df726-1575-4789-afac-3b15a7643401 b0fa7dd3-58da-45b8-bff4-1d665e21df9f g.chr11:5988969G>C uc010qzu.1 - 1 756 c.756C>G c.(754-756)CTC>CTG p.L252L NM_001146033 NP_001139505 P0C7T3 O56A5_HUMAN olfactory receptor, family 56, subfamily A, 252 Helical; Name=6; (Potential). integral to membrane|plasma membrane olfactory receptor activity 0 TGGTGAAGAAGAGGATGAGGA 0.478 NA 5 20 0 0 0 0 OR6A2 8590 broad.mit.edu 37 11 6816674 6816674 + Missense_Mutation SNP G G A TCGA-CR-6484-01A-11D-1870-08 TCGA-CR-6484-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e72df726-1575-4789-afac-3b15a7643401 b0fa7dd3-58da-45b8-bff4-1d665e21df9f g.chr11:6816674G>A uc001mes.1 - 1 466 c.266C>T c.(265-267)TCC>TTC p.S89F NM_003696 NP_003687 O95222 OR6A2_HUMAN olfactory receptor, family 6, subfamily A, 89 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(3)|central_nervous_system(1)|pancreas(1) 5 Medulloblastoma(188;0.0523)|all_neural(188;0.236) Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129) ATCCTGTTTGGATCCAACAAA 0.458 NA 12 62 0 0 0 0 HIPK3 10114 broad.mit.edu 37 11 33363124 33363124 + Missense_Mutation SNP G G A TCGA-CR-6484-01A-11D-1870-08 TCGA-CR-6484-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e72df726-1575-4789-afac-3b15a7643401 b0fa7dd3-58da-45b8-bff4-1d665e21df9f g.chr11:33363124G>A uc001mul.1 + 8 2059 c.1789G>A c.(1789-1791)GCT>ACT p.A597T HIPK3_uc001mum.1_Missense_Mutation_p.A597T|HIPK3_uc009yjv.1_Missense_Mutation_p.A597T NM_005734 NP_005725 Q9H422 HIPK3_HUMAN homeodomain interacting protein kinase 3 isoform 597 anti-apoptosis|apoptosis|negative regulation of JUN kinase activity|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm ATP binding|protein serine/threonine kinase activity large_intestine(1)|skin(1)|stomach(1)|ovary(1)|pancreas(1) 5 GACCACATCTGCTCATTCAGT 0.413 NA 39 318 0 0 0 0 PDHX 8050 broad.mit.edu 37 11 34982054 34982054 + Missense_Mutation SNP A A G TCGA-CR-6484-01A-11D-1870-08 TCGA-CR-6484-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e72df726-1575-4789-afac-3b15a7643401 b0fa7dd3-58da-45b8-bff4-1d665e21df9f g.chr11:34982054A>G uc001mvt.2 + 5 1156 c.630A>G c.(628-630)ATA>ATG p.I210M PDHX_uc010rep.1_Missense_Mutation_p.I195M|PDHX_uc010req.1_Intron NM_003477 NP_003468 O00330 ODPX_HUMAN pyruvate dehydrogenase complex, component X 210 Interaction with DLD. I->A: Strongly decreased DLD binding. pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate mitochondrial matrix acyltransferase activity kidney(1) 1 all_epithelial(35;0.115)|Lung NSC(22;0.218)|all_lung(20;0.242) all_hematologic(20;0.124) STAD - Stomach adenocarcinoma(6;0.00113) CTCGGGGGATATTCACTAAAG 0.378 NA 8 125 0 0 0 0 LDLRAD3 143458 broad.mit.edu 37 11 36250750 36250750 + Missense_Mutation SNP G G C TCGA-CR-6484-01A-11D-1870-08 TCGA-CR-6484-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e72df726-1575-4789-afac-3b15a7643401 b0fa7dd3-58da-45b8-bff4-1d665e21df9f g.chr11:36250750G>C uc001mwk.1 + 6 878 c.841G>C c.(841-843)GAC>CAC p.D281H LDLRAD3_uc010rey.1_Missense_Mutation_p.D232H|LDLRAD3_uc010rez.1_Missense_Mutation_p.D160H|LDLRAD3_uc010rfa.1_RNA NM_174902 NP_777562 Q86YD5 LRAD3_HUMAN low density lipoprotein receptor class A domain 281 Cytoplasmic (Potential). integral to membrane receptor activity central_nervous_system(1) 1 all_lung(20;0.089)|Lung NSC(22;0.175)|all_epithelial(35;0.177) all_hematologic(20;0.124) CTACTCTTCTGACACGGAATC 0.627 NA 21 867 0 0 0 0 COMMD9 29099 broad.mit.edu 37 11 36300091 36300091 + Missense_Mutation SNP G G A TCGA-CR-6484-01A-11D-1870-08 TCGA-CR-6484-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e72df726-1575-4789-afac-3b15a7643401 b0fa7dd3-58da-45b8-bff4-1d665e21df9f g.chr11:36300091G>A uc001mwn.3 - 3 290 c.253C>T c.(253-255)CTC>TTC p.L85F COMMD9_uc009ykj.2_Missense_Mutation_p.L43F|COMMD9_uc010rfb.1_Missense_Mutation_p.L85F NM_014186 NP_054905 Q9P000 COMD9_HUMAN COMM domain containing 9 isoform 1 85 ovary(1) 1 all_lung(20;0.211) all_hematologic(20;0.107) TCTGGAAAGAGAGCCAGAATT 0.483 NA 11 350 0 0 0 0 KIAA0652 9776 broad.mit.edu 37 11 46687010 46687010 + Missense_Mutation SNP G G C TCGA-CR-6484-01A-11D-1870-08 TCGA-CR-6484-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e72df726-1575-4789-afac-3b15a7643401 b0fa7dd3-58da-45b8-bff4-1d665e21df9f g.chr11:46687010G>C uc009yld.2 + 13 1662 c.978G>C c.(976-978)GAG>GAC p.E326D KIAA0652_uc001nda.2_Missense_Mutation_p.E359D|KIAA0652_uc001ndb.2_Missense_Mutation_p.E326D|KIAA0652_uc001ncz.2_Missense_Mutation_p.E289D|KIAA0652_uc001ndc.2_Missense_Mutation_p.E289D|KIAA0652_uc010rgv.1_Missense_Mutation_p.E210D NM_001142673 NP_001136145 O75143 ATG13_HUMAN autophagy-related protein 13 isoform 1 326 autophagic vacuole assembly cytosol|pre-autophagosomal structure|ULK1-ATG13-FIP200 complex protein binding 0 GBM - Glioblastoma multiforme(35;0.226) CTGACCAGGAGAGACTGGCAA 0.562 NA 9 64 0 0 0 0 ARFGAP2 84364 broad.mit.edu 37 11 47189775 47189775 + Missense_Mutation SNP C C G TCGA-CR-6484-01A-11D-1870-08 TCGA-CR-6484-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e72df726-1575-4789-afac-3b15a7643401 b0fa7dd3-58da-45b8-bff4-1d665e21df9f g.chr11:47189775C>G uc001ndt.2 - 11 984 c.969G>C c.(967-969)GAG>GAC p.E323D ARFGAP2_uc010rha.1_Missense_Mutation_p.E54D|ARFGAP2_uc010rhb.1_Missense_Mutation_p.E295D|ARFGAP2_uc001ndu.2_Missense_Mutation_p.E187D|ARFGAP2_uc010rhc.1_Missense_Mutation_p.E54D NM_032389 NP_115765 Q8N6H7 ARFG2_HUMAN ADP-ribosylation factor GTPase activating 323 Required for interaction with coatomer. protein transport|regulation of ARF GTPase activity|vesicle-mediated transport Golgi membrane|nucleolus|plasma membrane ARF GTPase activator activity|zinc ion binding ovary(1) 1 TCACCTGCATCTCAGACAGCA 0.552 NA 8 55 0 0 0 0 MADD 8567 broad.mit.edu 37 11 47295502 47295502 + Missense_Mutation SNP G G C TCGA-CR-6484-01A-11D-1870-08 TCGA-CR-6484-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e72df726-1575-4789-afac-3b15a7643401 b0fa7dd3-58da-45b8-bff4-1d665e21df9f g.chr11:47295502G>C uc001ner.1 + 2 228 c.37G>C c.(37-39)GAC>CAC p.D13H MADD_uc001neq.2_Missense_Mutation_p.D13H|MADD_uc001nev.1_Missense_Mutation_p.D13H|MADD_uc001nes.1_Missense_Mutation_p.D13H|MADD_uc001net.1_Missense_Mutation_p.D13H|MADD_uc009yln.1_Missense_Mutation_p.D13H|MADD_uc001neu.1_Missense_Mutation_p.D13H|MADD_uc001nex.2_Missense_Mutation_p.D13H|MADD_uc001nez.2_Missense_Mutation_p.D13H|MADD_uc001new.2_Missense_Mutation_p.D13H NM_003682 NP_003673 Q8WXG6 MADD_HUMAN MAP-kinase activating death domain-containing 13 activation of MAPK activity|apoptosis|cell surface receptor linked signaling pathway|regulation of apoptosis|regulation of cell cycle cytoplasm|integral to membrane|plasma membrane death receptor binding|protein kinase activator activity|Rab guanyl-nucleotide exchange factor activity ovary(5)|skin(4)|central_nervous_system(2) 11 Lung(87;0.182) TCGGTTACTTGACTATCTAGT 0.443 NA 8 37 0 0 0 0 OR8K5 219453 broad.mit.edu 37 11 55927105 55927105 + Missense_Mutation SNP G G A TCGA-CR-6484-01A-11D-1870-08 TCGA-CR-6484-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e72df726-1575-4789-afac-3b15a7643401 b0fa7dd3-58da-45b8-bff4-1d665e21df9f g.chr11:55927105G>A uc010rja.1 - 1 689 c.689C>T c.(688-690)TCT>TTT p.S230F NM_001004058 NP_001004058 Q8NH50 OR8K5_HUMAN olfactory receptor, family 8, subfamily K, 230 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|pancreas(1)|skin(1) 4 Esophageal squamous(21;0.00693) Lung NSC(402;0.197)|all_epithelial(135;0.236) GCCCTCTGCAGAATGCATTTG 0.398 NA 8 40 0 0 0 0 LRRC55 219527 broad.mit.edu 37 11 56954823 56954823 + Missense_Mutation SNP G G A TCGA-CR-6484-01A-11D-1870-08 TCGA-CR-6484-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e72df726-1575-4789-afac-3b15a7643401 b0fa7dd3-58da-45b8-bff4-1d665e21df9f g.chr11:56954823G>A uc001njl.1 + 2 1042 c.895G>A c.(895-897)GAT>AAT p.D299N LRRC55_uc001njm.1_5'Flank NM_001005210 NP_001005210 Q6ZSA7 LRC55_HUMAN leucine rich repeat containing 55 269 integral to membrane 0 CCTGACCCTGGATGATTACCT 0.607 NA 9 77 0 0 0 0 FAM111A 63901 broad.mit.edu 37 11 58920371 58920371 + Silent SNP G G A TCGA-CR-6484-01A-11D-1870-08 TCGA-CR-6484-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e72df726-1575-4789-afac-3b15a7643401 b0fa7dd3-58da-45b8-bff4-1d665e21df9f g.chr11:58920371G>A uc010rkp.1 + 5 1457 c.1230G>A c.(1228-1230)GTG>GTA p.V410V FAM111A_uc010rkq.1_Silent_p.V410V|FAM111A_uc010rkr.1_Silent_p.V410V|FAM111A_uc001nno.2_Silent_p.V410V|FAM111A_uc001nnp.2_Silent_p.V410V|FAM111A_uc001nnq.2_Silent_p.V410V NM_001142521 NP_001135993 Q96PZ2 F111A_HUMAN hypothetical protein LOC63901 410 proteolysis serine-type endopeptidase activity ovary(3) 3 all_epithelial(135;0.139) GTGTAAGGGTGACATTTGGTT 0.383 NA 14 80 0 0 0 0 GAL3ST3 89792 broad.mit.edu 37 11 65810464 65810464 + Silent SNP G G A TCGA-CR-6484-01A-11D-1870-08 TCGA-CR-6484-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e72df726-1575-4789-afac-3b15a7643401 b0fa7dd3-58da-45b8-bff4-1d665e21df9f g.chr11:65810464G>A uc001ogv.2 - 2 970 c.810C>T c.(808-810)CGC>CGT p.R270R GAL3ST3_uc001ogw.2_Silent_p.R270R NM_033036 NP_149025 Q96A11 G3ST3_HUMAN galactose-3-O-sulfotransferase 3 270 Lumenal (Potential). monosaccharide metabolic process|oligosaccharide metabolic process|poly-N-acetyllactosamine metabolic process|proteoglycan biosynthetic process|sulfur compound metabolic process Golgi cisterna membrane|integral to membrane 3'-phosphoadenosine 5'-phosphosulfate binding|carbohydrate binding|galactosylceramide sulfotransferase activity|proteoglycan sulfotransferase activity ovary(1) 1 AGCTGGCGGCGCGCGCGTTGA 0.577 NA 4 17 0 0 0 0 RIN1 9610 broad.mit.edu 37 11 66102285 66102285 + Missense_Mutation SNP C C A TCGA-CR-6484-01A-11D-1870-08 TCGA-CR-6484-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e72df726-1575-4789-afac-3b15a7643401 b0fa7dd3-58da-45b8-bff4-1d665e21df9f g.chr11:66102285C>A uc001ohn.1 - 6 1112 c.985G>T c.(985-987)GGG>TGG p.G329W RIN1_uc010roy.1_Missense_Mutation_p.G22W|RIN1_uc009yrd.1_Missense_Mutation_p.G22W|RIN1_uc010roz.1_Missense_Mutation_p.G224W|RIN1_uc010rpa.1_Missense_Mutation_p.G224W NM_004292 NP_004283 Q13671 RIN1_HUMAN ras inhibitor RIN1 329 Ras and 14-3-3 protein binding region. endocytosis|signal transduction cytoplasm|cytoskeleton|plasma membrane GTPase activator activity|protein binding lung(2)|breast(1) 3 CCCCGGGACCCTGGCACCCCC 0.721 NA 2 2 0.0016 0.00166925 1 0 CARNS1 57571 broad.mit.edu 37 11 67191490 67191490 + Silent SNP G G C TCGA-CR-6484-01A-11D-1870-08 TCGA-CR-6484-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e72df726-1575-4789-afac-3b15a7643401 b0fa7dd3-58da-45b8-bff4-1d665e21df9f g.chr11:67191490G>C uc009yrp.2 + 9 2354 c.1902G>C c.(1900-1902)CTG>CTC p.L634L PPP1CA_uc001okx.1_5'Flank|CARNS1_uc001olc.3_Silent_p.L773L NM_020811 NP_065862 A5YM72 CRNS1_HUMAN ATP-grasp domain containing 1 634 ATP-grasp. carnosine biosynthetic process ATP binding|carnosine synthase activity|metal ion binding 0 CTACGAGGCTGCCTGGCTTCA 0.642 NA 5 20 0 0 0 0 PPFIA1 8500 broad.mit.edu 37 11 70218613 70218613 + Silent SNP G G C TCGA-CR-6484-01A-11D-1870-08 TCGA-CR-6484-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e72df726-1575-4789-afac-3b15a7643401 b0fa7dd3-58da-45b8-bff4-1d665e21df9f g.chr11:70218613G>C uc001opo.2 + 23 3270 c.3072G>C c.(3070-3072)CTG>CTC p.L1024L PPFIA1_uc001opn.1_Silent_p.L1024L|PPFIA1_uc001opp.2_RNA|PPFIA1_uc001opr.2_Silent_p.L163L|PPFIA1_uc001ops.2_Silent_p.L63L NM_003626 NP_003617 Q13136 LIPA1_HUMAN PTPRF interacting protein alpha 1 isoform b 1024 Potential.|SAM 2. cell-matrix adhesion cytoplasm protein binding|signal transducer activity lung(2)|ovary(1) 3 BRCA - Breast invasive adenocarcinoma(2;1.04e-44)|LUSC - Lung squamous cell carcinoma(11;1.46e-14)|STAD - Stomach adenocarcinoma(18;0.0513) TTATGTGCCTGAGAAGGTTAA 0.328 NA 7 45 0 0 0 0 ARHGEF17 9828 broad.mit.edu 37 11 73074301 73074301 + Missense_Mutation SNP G G C TCGA-CR-6484-01A-11D-1870-08 TCGA-CR-6484-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e72df726-1575-4789-afac-3b15a7643401 b0fa7dd3-58da-45b8-bff4-1d665e21df9f g.chr11:73074301G>C uc001otu.2 + 15 5068 c.5047G>C c.(5047-5049)GAG>CAG p.E1683Q NM_014786 NP_055601 Q96PE2 ARHGH_HUMAN Rho guanine nucleotide exchange factor (GEF) 17 1683 actin cytoskeleton organization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol Rho guanyl-nucleotide exchange factor activity 0 CACCAGCTCAGAGGAGGAGCA 0.637 NA 3 14 0 0 0 0 ARHGEF17 9828 broad.mit.edu 37 11 73074384 73074384 + Silent SNP G G C TCGA-CR-6484-01A-11D-1870-08 TCGA-CR-6484-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e72df726-1575-4789-afac-3b15a7643401 b0fa7dd3-58da-45b8-bff4-1d665e21df9f g.chr11:73074384G>C uc001otu.2 + 15 5151 c.5130G>C c.(5128-5130)GGG>GGC p.G1710G NM_014786 NP_055601 Q96PE2 ARHGH_HUMAN Rho guanine nucleotide exchange factor (GEF) 17 1710 actin cytoskeleton organization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol Rho guanyl-nucleotide exchange factor activity 0 CAATGGATGGGAGAGCCCTTC 0.667 NA 3 14 0 0 0 0 FDX1 2230 broad.mit.edu 37 11 110327657 110327657 + Missense_Mutation SNP C C G TCGA-CR-6484-01A-11D-1870-08 TCGA-CR-6484-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e72df726-1575-4789-afac-3b15a7643401 b0fa7dd3-58da-45b8-bff4-1d665e21df9f g.chr11:110327657C>G uc001pkx.2 + 3 577 c.326C>G c.(325-327)ACC>AGC p.T109S NM_004109 NP_004100 P10109 ADX_HUMAN ferredoxin 1 precursor 109 2Fe-2S ferredoxin-type. electron transport chain|transport mitochondrial matrix 2 iron, 2 sulfur cluster binding|electron carrier activity|iron ion binding 0 all_cancers(61;1.59e-12)|all_epithelial(67;8.38e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_neural(223;0.0199)|Medulloblastoma(222;0.0425)|Breast(348;0.0544) Epithelial(105;1.01e-06)|BRCA - Breast invasive adenocarcinoma(274;8.54e-06)|all cancers(92;5.27e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0384)|Colorectal(284;0.228) Mitotane(DB00648) TGTGAGGGAACCCTGGCTTGT 0.418 NA 27 144 0 0 0 0 DIXDC1 85458 broad.mit.edu 37 11 111844775 111844775 + Silent SNP C C T TCGA-CR-6484-01A-11D-1870-08 TCGA-CR-6484-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e72df726-1575-4789-afac-3b15a7643401 b0fa7dd3-58da-45b8-bff4-1d665e21df9f g.chr11:111844775C>T uc001pml.2 + 4 642 c.345C>T c.(343-345)ATC>ATT p.I115I DIXDC1_uc001pmj.2_Silent_p.I108I|DIXDC1_uc001pmk.2_Silent_p.I115I NM_001037954 NP_001033043 Q155Q3 DIXC1_HUMAN DIX domain containing 1 isoform a 115 CH. multicellular organismal development|positive regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway cytosol|focal adhesion actin binding|gamma-tubulin binding|signal transducer activity ovary(1) 1 all_cancers(61;7.58e-15)|all_epithelial(67;5.42e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425) Epithelial(105;2.99e-07)|BRCA - Breast invasive adenocarcinoma(274;6.72e-07)|all cancers(92;6.25e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.0548) TGAAGTCTATCATGAGGCTGG 0.512 NA 8 37 0 0 0 0 DIXDC1 85458 broad.mit.edu 37 11 111889689 111889689 + Missense_Mutation SNP G G A TCGA-CR-6484-01A-11D-1870-08 TCGA-CR-6484-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e72df726-1575-4789-afac-3b15a7643401 b0fa7dd3-58da-45b8-bff4-1d665e21df9f g.chr11:111889689G>A uc001pml.2 + 21 2278 c.1981G>A c.(1981-1983)GAT>AAT p.D661N DIXDC1_uc001pmm.2_Missense_Mutation_p.D450N|DIXDC1_uc001pmn.2_Missense_Mutation_p.D367N|DIXDC1_uc010rwq.1_Missense_Mutation_p.D326N NM_001037954 NP_001033043 Q155Q3 DIXC1_HUMAN DIX domain containing 1 isoform a 661 DIX. multicellular organismal development|positive regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway cytosol|focal adhesion actin binding|gamma-tubulin binding|signal transducer activity ovary(1) 1 all_cancers(61;7.58e-15)|all_epithelial(67;5.42e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425) Epithelial(105;2.99e-07)|BRCA - Breast invasive adenocarcinoma(274;6.72e-07)|all cancers(92;6.25e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.0548) GATTTTCCATGATGATGATGC 0.388 NA 10 77 0 0 0 0 BSX 390259 broad.mit.edu 37 11 122848536 122848536 + Missense_Mutation SNP C C T TCGA-CR-6484-01A-11D-1870-08 TCGA-CR-6484-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e72df726-1575-4789-afac-3b15a7643401 b0fa7dd3-58da-45b8-bff4-1d665e21df9f g.chr11:122848536C>T uc010rzs.1 - 3 523 c.523G>A c.(523-525)GAA>AAA p.E175K NM_001098169 NP_001091639 Q3C1V8 BSH_HUMAN brain specific homeobox 175 0 Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0361) GCTTTGGGTTCGTCTTGGCTT 0.592 NA 14 47 0 0 0 0 KCNJ5 3762 broad.mit.edu 37 11 128781747 128781747 + Silent SNP C C G TCGA-CR-6484-01A-11D-1870-08 TCGA-CR-6484-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e72df726-1575-4789-afac-3b15a7643401 b0fa7dd3-58da-45b8-bff4-1d665e21df9f g.chr11:128781747C>G uc001qet.2 + 2 893 c.579C>G c.(577-579)CCC>CCG p.P193P KCNJ5_uc009zck.2_Silent_p.P193P|KCNJ5_uc001qew.2_Silent_p.P193P NM_000890 NP_000881 P48544 IRK5_HUMAN potassium inwardly-rectifying channel J5 193 Cytoplasmic (By similarity). synaptic transmission voltage-gated potassium channel complex G-protein activated inward rectifier potassium channel activity|protein binding skin(1) 1 all_hematologic(175;0.0641) Lung NSC(97;0.00038)|all_lung(97;0.000817)|Breast(109;0.00123)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837) OV - Ovarian serous cystadenocarcinoma(99;0.0059)|LUSC - Lung squamous cell carcinoma(976;0.021)|Lung(977;0.0215) Glibenclamide(DB01016) TCAGCCAGCCCAAGAAGAGAG 0.562 NA 14 97 0 0 0 0 KCNA6 3742 broad.mit.edu 37 12 4919508 4919508 + Nonsense_Mutation SNP C C T TCGA-CR-6484-01A-11D-1870-08 TCGA-CR-6484-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e72df726-1575-4789-afac-3b15a7643401 b0fa7dd3-58da-45b8-bff4-1d665e21df9f g.chr12:4919508C>T uc001qng.2 + 1 1167 c.301C>T c.(301-303)CAG>TAG p.Q101* NM_002235 NP_002226 P17658 KCNA6_HUMAN potassium voltage-gated channel, shaker-related 101 voltage-gated potassium channel complex voltage-gated potassium channel activity skin(2)|ovary(1) 3 CTACTACTACCAGTCTGGGGG 0.657 NA HNSCC(72;0.22) 17 69 0 0 0 0 SPSB2 84727 broad.mit.edu 37 12 6980429 6980429 + Missense_Mutation SNP C C T TCGA-CR-6484-01A-11D-1870-08 TCGA-CR-6484-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e72df726-1575-4789-afac-3b15a7643401 b0fa7dd3-58da-45b8-bff4-1d665e21df9f g.chr12:6980429C>T uc001qrl.2 - 3 875 c.719G>A c.(718-720)GGG>GAG p.G240E SPSB2_uc001qrm.2_Missense_Mutation_p.G240E|LRRC23_uc001qrn.1_5'Flank NM_001146316 NP_001139788 Q99619 SPSB2_HUMAN splA/ryanodine receptor domain and SOCS box 240 SOCS box. intracellular signal transduction cytoplasm protein binding kidney(1) 1 CCGGGTATCCCCCAGGTTGTG 0.627 NA 6 25 0 0 0 0 LRP6 4040 broad.mit.edu 37 12 12274061 12274061 + Nonstop_Mutation SNP C C G TCGA-CR-6484-01A-11D-1870-08 TCGA-CR-6484-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e72df726-1575-4789-afac-3b15a7643401 b0fa7dd3-58da-45b8-bff4-1d665e21df9f g.chr12:12274061C>G uc001rah.3 - 23 4983 c.4841G>C c.(4840-4842)TGA>TCA p.*1614S BCL2L14_uc001raf.1_Intron|LRP6_uc010shl.1_Nonstop_Mutation_p.*1569S NM_002336 NP_002327 O75581 LRP6_HUMAN low density lipoprotein receptor-related protein 1614 cellular response to cholesterol|negative regulation of protein phosphorylation|negative regulation of protein serine/threonine kinase activity|negative regulation of smooth muscle cell apoptosis|neural crest formation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell cycle|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway involved in dorsal/ventral axis specification|Wnt receptor signaling pathway involved in dorsal/ventral axis specification cell surface|cytoplasmic vesicle|endoplasmic reticulum|integral to membrane|plasma membrane coreceptor activity|frizzled binding|kinase inhibitor activity|low-density lipoprotein receptor activity|protein homodimerization activity|toxin transporter activity|Wnt-protein binding lung(4)|skin(4)|ovary(2)|kidney(1)|central_nervous_system(1) 12 Prostate(47;0.0865) GGCCCCTCCTCAGGAGGAGTC 0.517 NA 5 24 0 0 0 0 ATF7IP 55729 broad.mit.edu 37 12 14589102 14589102 + Missense_Mutation SNP C C T TCGA-CR-6484-01A-11D-1870-08 TCGA-CR-6484-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e72df726-1575-4789-afac-3b15a7643401 b0fa7dd3-58da-45b8-bff4-1d665e21df9f g.chr12:14589102C>T uc001rbw.2 + 4 1866 c.1708C>T c.(1708-1710)CGT>TGT p.R570C ATF7IP_uc010shs.1_Missense_Mutation_p.R569C|ATF7IP_uc001rbu.2_Missense_Mutation_p.R570C|ATF7IP_uc001rbv.1_Missense_Mutation_p.R569C|ATF7IP_uc001rbx.2_Missense_Mutation_p.R569C|ATF7IP_uc010sht.1_Missense_Mutation_p.R570C|ATF7IP_uc001rby.3_Missense_Mutation_p.R570C|ATF7IP_uc001rca.2_Missense_Mutation_p.R570C NM_018179 NP_060649 Q6VMQ6 MCAF1_HUMAN activating transcription factor 7 interacting 570 Interaction with SETDB1.|Glu-rich.|Nuclear localization signal (By similarity). DNA methylation|interspecies interaction between organisms|positive regulation of transcription, DNA-dependent|regulation of RNA polymerase II transcriptional preinitiation complex assembly|transcription, DNA-dependent protein binding lung(3)|ovary(1)|skin(1) 5 GTCTAAACGTCGTCGATATAT 0.353 NA 24 67 0 0 0 0 WNT1 7471 broad.mit.edu 37 12 49373291 49373291 + Missense_Mutation SNP G G A TCGA-CR-6484-01A-11D-1870-08 TCGA-CR-6484-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e72df726-1575-4789-afac-3b15a7643401 b0fa7dd3-58da-45b8-bff4-1d665e21df9f g.chr12:49373291G>A uc001rsu.2 + 2 343 c.145G>A c.(145-147)GAC>AAC p.D49N NM_005430 NP_005421 P04628 WNT1_HUMAN wingless-type MMTV integration site family, 49 brain segmentation|canonical Wnt receptor signaling pathway involved in negative regulation of apoptosis|central nervous system morphogenesis|cerebellum formation|dermatome development|diencephalon development|embryonic axis specification|forebrain anterior/posterior pattern formation|fourth ventricle development|hemopoietic stem cell proliferation|hepatocyte differentiation|inner ear morphogenesis|mesoderm morphogenesis|midbrain development|midbrain-hindbrain boundary maturation during brain development|negative regulation of cell-cell adhesion|negative regulation of cell-substrate adhesion|negative regulation of DNA damage checkpoint|negative regulation of fat cell differentiation|neuron fate determination|positive regulation of fibroblast proliferation|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of lamellipodium assembly|positive regulation of Notch signaling pathway|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|response to wounding|signal transduction in response to DNA damage|Spemann organizer formation|T cell differentiation in thymus|Wnt receptor signaling pathway, calcium modulating pathway early endosome|extracellular space|late endosome|membrane raft|plasma membrane|proteinaceous extracellular matrix cytokine activity|frizzled-2 binding|transcription regulatory region DNA binding kidney(1) 1 BRCA - Breast invasive adenocarcinoma(357;0.244) CCTGCTTACAGACTCCAAGAG 0.557 NA 19 101 0 0 0 0 MLL2 8085 broad.mit.edu 37 12 49436420 49436420 + Missense_Mutation SNP G G T TCGA-CR-6484-01A-11D-1870-08 TCGA-CR-6484-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e72df726-1575-4789-afac-3b15a7643401 b0fa7dd3-58da-45b8-bff4-1d665e21df9f g.chr12:49436420G>T uc001rta.3 - 27 5791 c.5791C>A c.(5791-5793)CCT>ACT p.P1931T NM_003482 NP_003473 O14686 MLL2_HUMAN myeloid/lymphoid or mixed-lineage leukemia 2 1931 chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent histone methyltransferase complex histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding kidney(16)|central_nervous_system(12)|lung(4)|skin(4)|ovary(3)|pancreas(2) 41 TTGCCCAAAGGGAGTCCACCT 0.552 NA N|F|Mis medulloblastoma|renal HNSCC(34;0.089) 21 38 4.97e-08 5.41e-08 1 0 RHEBL1 121268 broad.mit.edu 37 12 49462888 49462888 + Silent SNP C C T TCGA-CR-6484-01A-11D-1870-08 TCGA-CR-6484-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e72df726-1575-4789-afac-3b15a7643401 b0fa7dd3-58da-45b8-bff4-1d665e21df9f g.chr12:49462888C>T uc001rtc.1 - 2 261 c.54G>A c.(52-54)GGG>GGA p.G18G RHEBL1_uc001rtd.1_Silent_p.G14G|RHEBL1_uc009zlc.1_RNA NM_144593 NP_653194 Q8TAI7 REBL1_HUMAN Ras homolog enriched in brain like 1 precursor 18 GTP (By similarity). positive regulation of NF-kappaB transcription factor activity|small GTPase mediated signal transduction|TOR signaling cascade cytoplasm|plasma membrane GTP binding|GTPase activity|protein binding lung(1)|breast(1) 2 AAGATGTCTTCCCTGTGGGGA 0.502 NA 26 69 0 0 0 0 KCNH3 23416 broad.mit.edu 37 12 49943272 49943272 + Missense_Mutation SNP G G A TCGA-CR-6484-01A-11D-1870-08 TCGA-CR-6484-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e72df726-1575-4789-afac-3b15a7643401 b0fa7dd3-58da-45b8-bff4-1d665e21df9f g.chr12:49943272G>A uc001ruh.1 + 9 1777 c.1517G>A c.(1516-1518)CGC>CAC p.R506H KCNH3_uc010smj.1_Missense_Mutation_p.R446H NM_012284 NP_036416 Q9ULD8 KCNH3_HUMAN potassium voltage-gated channel, subfamily H 506 Cytoplasmic (Potential). regulation of transcription, DNA-dependent integral to membrane two-component sensor activity|voltage-gated potassium channel activity 0 ATCATCCAGCGCATGTACGCC 0.667 NA 10 49 0 0 0 0 DIP2B 57609 broad.mit.edu 37 12 51138607 51138607 + Silent SNP G G A TCGA-CR-6484-01A-11D-1870-08 TCGA-CR-6484-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e72df726-1575-4789-afac-3b15a7643401 b0fa7dd3-58da-45b8-bff4-1d665e21df9f g.chr12:51138607G>A uc001rwv.2 + 38 4872 c.4716G>A c.(4714-4716)GTG>GTA p.V1572V DIP2B_uc009zlt.2_Silent_p.V1002V NM_173602 NP_775873 Q9P265 DIP2B_HUMAN DIP2 disco-interacting protein 2 homolog B 1572 nucleus catalytic activity|transcription factor binding ovary(4)|breast(1)|pancreas(1) 6 CCATCTACGTGGCTTATAACA 0.517 NA 20 62 0 0 0 0 NR4A1 3164 broad.mit.edu 37 12 52448880 52448880 + Silent SNP G G C TCGA-CR-6484-01A-11D-1870-08 TCGA-CR-6484-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e72df726-1575-4789-afac-3b15a7643401 b0fa7dd3-58da-45b8-bff4-1d665e21df9f g.chr12:52448880G>C uc001rzs.2 + 3 1082 c.768G>C c.(766-768)CGG>CGC p.R256R NR4A1_uc010sno.1_Silent_p.R269R|NR4A1_uc001rzr.2_Silent_p.R256R|NR4A1_uc009zmb.1_Silent_p.R256R|NR4A1_uc001rzt.2_Silent_p.R256R|NR4A1_uc009zmc.2_5'Flank NM_002135 NP_002126 P22736 NR4A1_HUMAN nuclear receptor subfamily 4, group A, member 1 256 nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor steroid hormone receptor activity|zinc ion binding 0 BRCA - Breast invasive adenocarcinoma(357;0.0967) CCAAGGCCCGGAGCGGGGCCC 0.612 NA 13 117 0 0 0 0 AAAS 8086 broad.mit.edu 37 12 53709522 53709522 + Nonsense_Mutation SNP G G C TCGA-CR-6484-01A-11D-1870-08 TCGA-CR-6484-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e72df726-1575-4789-afac-3b15a7643401 b0fa7dd3-58da-45b8-bff4-1d665e21df9f g.chr12:53709522G>C uc001scr.3 - 3 459 c.296C>G c.(295-297)TCA>TGA p.S99* AAAS_uc001scs.3_Nonsense_Mutation_p.S99* NM_015665 NP_056480 Q9NRG9 AAAS_HUMAN achalasia, adrenocortical insufficiency, 99 carbohydrate metabolic process|glucose transport|nucleocytoplasmic transport|regulation of glucose transport|regulation of nucleocytoplasmic transport|transmembrane transport|viral reproduction nuclear pore ovary(1) 1 CTCTTCTTCTGAGTTTGCAAT 0.483 NA 9 16 0 0 0 0 MAP3K12 7786 broad.mit.edu 37 12 53876597 53876597 + Missense_Mutation SNP C C T TCGA-CR-6484-01A-11D-1870-08 TCGA-CR-6484-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e72df726-1575-4789-afac-3b15a7643401 b0fa7dd3-58da-45b8-bff4-1d665e21df9f g.chr12:53876597C>T uc001sdm.1 - 12 1989 c.1891G>A c.(1891-1893)GAT>AAT p.D631N MAP3K12_uc001sdn.1_Missense_Mutation_p.D664N NM_006301 NP_006292 Q12852 M3K12_HUMAN mitogen-activated protein kinase kinase kinase 631 histone phosphorylation|JNK cascade|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation cytosol|membrane fraction|plasma membrane ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein kinase binding lung(2)|ovary(1)|breast(1)|skin(1) 5 GAGCCAGGATCCCCAGCTCCG 0.667 NA 16 41 0 0 0 0 MYL6B 140465 broad.mit.edu 37 12 56547847 56547847 + Missense_Mutation SNP G G A TCGA-CR-6484-01A-11D-1870-08 TCGA-CR-6484-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e72df726-1575-4789-afac-3b15a7643401 b0fa7dd3-58da-45b8-bff4-1d665e21df9f g.chr12:56547847G>A uc001sjs.2 + 2 272 c.145G>A c.(145-147)GAG>AAG p.E49K MYL6B_uc009zoo.2_Missense_Mutation_p.E49K|MYL6B_uc001sjt.2_Missense_Mutation_p.E49K|MYL6B_uc001sju.1_Missense_Mutation_p.E49K NM_002475 NP_002466 P14649 MYL6B_HUMAN smooth muscle and non-muscle myosin alkali light 49 muscle filament sliding|skeletal muscle tissue development cytosol|muscle myosin complex|unconventional myosin complex calcium ion binding|motor activity|protein binding|structural constituent of muscle 0 OV - Ovarian serous cystadenocarcinoma(18;0.0979) GAAAACCCAGGAGCCTCCAGT 0.572 NA 3 28 0 0 0 0 MYL6B 140465 broad.mit.edu 37 12 56548600 56548600 + Missense_Mutation SNP G G A TCGA-CR-6484-01A-11D-1870-08 TCGA-CR-6484-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e72df726-1575-4789-afac-3b15a7643401 b0fa7dd3-58da-45b8-bff4-1d665e21df9f g.chr12:56548600G>A uc001sjs.2 + 3 305 c.178G>A c.(178-180)GAG>AAG p.E60K MYL6B_uc009zoo.2_Missense_Mutation_p.E60K|MYL6B_uc001sjt.2_Missense_Mutation_p.E60K|MYL6B_uc001sju.1_Missense_Mutation_p.E60K NM_002475 NP_002466 P14649 MYL6B_HUMAN smooth muscle and non-muscle myosin alkali light 60 muscle filament sliding|skeletal muscle tissue development cytosol|muscle myosin complex|unconventional myosin complex calcium ion binding|motor activity|protein binding|structural constituent of muscle 0 OV - Ovarian serous cystadenocarcinoma(18;0.0979) TCCACAGATCGAGTTTAACAA 0.532 NA 29 198 0 0 0 0 MYL6B 140465 broad.mit.edu 37 12 56548975 56548975 + Silent SNP G G A TCGA-CR-6484-01A-11D-1870-08 TCGA-CR-6484-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e72df726-1575-4789-afac-3b15a7643401 b0fa7dd3-58da-45b8-bff4-1d665e21df9f g.chr12:56548975G>A uc001sjs.2 + 4 466 c.339G>A c.(337-339)AAG>AAA p.K113K MYL6B_uc009zoo.2_Silent_p.K113K|MYL6B_uc001sjt.2_Silent_p.K113K|MYL6B_uc001sju.1_Silent_p.K113K NM_002475 NP_002466 P14649 MYL6B_HUMAN smooth muscle and non-muscle myosin alkali light 113 muscle filament sliding|skeletal muscle tissue development cytosol|muscle myosin complex|unconventional myosin complex calcium ion binding|motor activity|protein binding|structural constituent of muscle 0 OV - Ovarian serous cystadenocarcinoma(18;0.0979) GGAACCCCAAGAGTGATGGTG 0.522 NA 23 116 0 0 0 0 TIMELESS 8914 broad.mit.edu 37 12 56818549 56818549 + Missense_Mutation SNP G G A TCGA-CR-6484-01A-11D-1870-08 TCGA-CR-6484-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e72df726-1575-4789-afac-3b15a7643401 b0fa7dd3-58da-45b8-bff4-1d665e21df9f g.chr12:56818549G>A uc001slf.2 - 15 2033 c.1865C>T c.(1864-1866)GCT>GTT p.A622V NM_003920 NP_003911 Q9UNS1 TIM_HUMAN timeless homolog 622 cell division|circadian rhythm|detection of abiotic stimulus|mitosis|morphogenesis of an epithelium|negative regulation of transcription, DNA-dependent|regulation of S phase|response to DNA damage stimulus|transcription, DNA-dependent nuclear chromatin ovary(5)|breast(2)|pancreas(1) 8 TTCTTACCGAGCAGACCTCAG 0.587 NA 5 85 0 0 0 0 TSPAN31 6302 broad.mit.edu 37 12 58140808 58140808 + Missense_Mutation SNP A A G TCGA-CR-6484-01A-11D-1870-08 TCGA-CR-6484-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e72df726-1575-4789-afac-3b15a7643401 b0fa7dd3-58da-45b8-bff4-1d665e21df9f g.chr12:58140808A>G uc001spt.2 + 5 606 c.452A>G c.(451-453)AAG>AGG p.K151R TSPAN31_uc009zqb.2_Missense_Mutation_p.K67R|TSPAN31_uc010ssa.1_Missense_Mutation_p.K73R NM_005981 NP_005972 Q12999 TSN31_HUMAN sarcoma amplified sequence 151 Extracellular (Potential). positive regulation of cell proliferation integral to plasma membrane|membrane fraction 0 all_cancers(7;4.96e-69)|Lung NSC(6;5.5e-25)|all_lung(6;3.87e-23)|all_epithelial(6;1.66e-15)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122) GBM - Glioblastoma multiforme(5;4.21e-120)|all cancers(5;3.75e-83)|BRCA - Breast invasive adenocarcinoma(9;0.0294) CAGATCTGCAAGAGCCAGAGC 0.423 NA 4 164 0 0 0 0 TMTC2 160335 broad.mit.edu 37 12 83455572 83455572 + Missense_Mutation SNP G G C TCGA-CR-6484-01A-11D-1870-08 TCGA-CR-6484-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e72df726-1575-4789-afac-3b15a7643401 b0fa7dd3-58da-45b8-bff4-1d665e21df9f g.chr12:83455572G>C uc001szt.2 + 11 2725 c.2293G>C c.(2293-2295)GAG>CAG p.E765Q TMTC2_uc010suk.1_Missense_Mutation_p.E520Q NM_152588 NP_689801 Q8N394 TMTC2_HUMAN transmembrane and tetratricopeptide repeat 765 TPR 9. endoplasmic reticulum|integral to membrane binding ovary(2) 2 TGAAGCAGCTGAGAAGTATTA 0.353 NA 13 73 0 0 0 0 APAF1 317 broad.mit.edu 37 12 99093306 99093306 + Missense_Mutation SNP G G A TCGA-CR-6484-01A-11D-1870-08 TCGA-CR-6484-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e72df726-1575-4789-afac-3b15a7643401 b0fa7dd3-58da-45b8-bff4-1d665e21df9f g.chr12:99093306G>A uc001tfz.2 + 17 3002 c.2425G>A c.(2425-2427)GAT>AAT p.D809N APAF1_uc001tfy.2_Missense_Mutation_p.D798N|APAF1_uc001tga.2_Missense_Mutation_p.D798N|APAF1_uc001tgb.2_Missense_Mutation_p.D809N|APAF1_uc001tgc.2_Intron|APAF1_uc009zto.2_Missense_Mutation_p.D218N NM_181861 NP_863651 O14727 APAF_HUMAN apoptotic peptidase activating factor 1 isoform 809 WD 5. activation of caspase activity by cytochrome c|defense response|induction of apoptosis by intracellular signals|nervous system development cytosol|Golgi apparatus|nucleus ATP binding|caspase activator activity|protein binding ovary(2)|lung(1) 3 Adenosine triphosphate(DB00171) GTGGTCTGCTGATGGTGCAAG 0.358 NA 10 49 0 0 0 0 EFHA1 221154 broad.mit.edu 37 13 22113514 22113514 + Silent SNP G G A TCGA-CR-6484-01A-11D-1870-08 TCGA-CR-6484-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e72df726-1575-4789-afac-3b15a7643401 b0fa7dd3-58da-45b8-bff4-1d665e21df9f g.chr13:22113514G>A uc001uof.2 - 4 415 c.393C>T c.(391-393)GAC>GAT p.D131D NM_152726 NP_689939 Q8IYU8 EFHA1_HUMAN EF-hand domain family, member A1 131 calcium ion binding 0 all_cancers(29;1.24e-15)|all_epithelial(30;5.4e-14)|all_lung(29;2.04e-13)|Lung SC(185;0.0367) all cancers(112;0.000171)|Epithelial(112;0.000398)|OV - Ovarian serous cystadenocarcinoma(117;0.00641)|Lung(94;0.189) TATCCTCGATGTCCTTTGAAT 0.254 NA 16 22 0 0 0 0 SACS 26278 broad.mit.edu 37 13 23913992 23913992 + Silent SNP G G C TCGA-CR-6484-01A-11D-1870-08 TCGA-CR-6484-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e72df726-1575-4789-afac-3b15a7643401 b0fa7dd3-58da-45b8-bff4-1d665e21df9f g.chr13:23913992G>C uc001uon.2 - 10 4612 c.4023C>G c.(4021-4023)CTC>CTG p.L1341L SACS_uc001uoo.2_Silent_p.L1194L|SACS_uc001uop.1_Intron|SACS_uc001uoq.1_Intron NM_014363 NP_055178 Q9NZJ4 SACS_HUMAN sacsin 1341 cell death|negative regulation of inclusion body assembly|protein folding axon|cell body fiber|dendrite|mitochondrion|nucleus ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1) 12 all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128) all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189) GGTCACTTTTGAGATATATCT 0.358 NA 12 40 0 0 0 0 FLT1 2321 broad.mit.edu 37 13 28913326 28913326 + Missense_Mutation SNP C C A TCGA-CR-6484-01A-11D-1870-08 TCGA-CR-6484-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e72df726-1575-4789-afac-3b15a7643401 b0fa7dd3-58da-45b8-bff4-1d665e21df9f g.chr13:28913326C>A uc001usb.3 - 17 2752 c.2467G>T c.(2467-2469)GCC>TCC p.A823S FLT1_uc001usa.3_Missense_Mutation_p.A41S NM_002019 NP_002010 P17948 VGFR1_HUMAN fms-related tyrosine kinase 1 isoform 1 823 Cytoplasmic (Potential). cell differentiation|female pregnancy|positive regulation of vascular endothelial growth factor receptor signaling pathway extracellular space|Golgi apparatus|integral to plasma membrane|nucleus ATP binding|growth factor binding|vascular endothelial growth factor receptor activity lung(10)|central_nervous_system(5)|ovary(3)|stomach(2)|skin(2)|urinary_tract(1)|breast(1) 24 Acute lymphoblastic leukemia(6;0.04) Lung SC(185;0.0262)|Breast(139;0.188) Colorectal(13;0.000674) all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207) Sunitinib(DB01268) CTCTCCCGGGCAAACTCCCAC 0.313 NA 4 54 0.000602214 0.000632054 1 0 KIAA0564 23078 broad.mit.edu 37 13 42352181 42352181 + Silent SNP C C T TCGA-CR-6484-01A-11D-1870-08 TCGA-CR-6484-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e72df726-1575-4789-afac-3b15a7643401 b0fa7dd3-58da-45b8-bff4-1d665e21df9f g.chr13:42352181C>T uc001uyj.2 - 20 2359 c.2289G>A c.(2287-2289)GTG>GTA p.V763V KIAA0564_uc001uyk.2_Silent_p.V763V NM_015058 NP_055873 A3KMH1 K0564_HUMAN hypothetical protein LOC23078 isoform a 763 extracellular region ATP binding|ATPase activity ovary(3)|upper_aerodigestive_tract(1)|kidney(1)|skin(1) 6 Lung NSC(96;4.61e-06)|Prostate(109;0.0167)|Lung SC(185;0.0262)|Breast(139;0.0854)|Hepatocellular(98;0.114) OV - Ovarian serous cystadenocarcinoma(117;0.000368)|GBM - Glioblastoma multiforme(144;0.0033)|BRCA - Breast invasive adenocarcinoma(63;0.0969) TATCTTCCATCACTATCACAT 0.323 NA 14 128 0 0 0 0 LRCH1 23143 broad.mit.edu 37 13 47303005 47303005 + Silent SNP C C T TCGA-CR-6484-01A-11D-1870-08 TCGA-CR-6484-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e72df726-1575-4789-afac-3b15a7643401 b0fa7dd3-58da-45b8-bff4-1d665e21df9f g.chr13:47303005C>T uc001vbj.2 + 17 2024 c.1788C>T c.(1786-1788)GTC>GTT p.V596V LRCH1_uc001vbk.2_Silent_p.V631V|LRCH1_uc001vbl.3_Silent_p.V596V NM_015116 NP_055931 Q9Y2L9 LRCH1_HUMAN leucine-rich repeats and calponin homology (CH) 596 CH. ovary(1)|central_nervous_system(1) 2 all_lung(13;5.61e-07)|Lung NSC(96;0.000117)|Breast(56;0.000141)|Prostate(109;0.0029)|Lung SC(185;0.0367)|Myeloproliferative disorder(33;0.0505)|Hepatocellular(98;0.0556) KIRC - Kidney renal clear cell carcinoma(16;0.234) GBM - Glioblastoma multiforme(144;0.000123) GATTGAAGGTCAGTCTACACG 0.488 NA 18 117 0 0 0 0 OLFM4 10562 broad.mit.edu 37 13 53603067 53603067 + Silent SNP C C G rs140749392 TCGA-CR-6484-01A-11D-1870-08 TCGA-CR-6484-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e72df726-1575-4789-afac-3b15a7643401 b0fa7dd3-58da-45b8-bff4-1d665e21df9f g.chr13:53603067C>G uc001vhl.2 + 1 96 c.96C>G c.(94-96)CCC>CCG p.P32P OLFM4_uc001vhk.1_Silent_p.P32P NM_006418 NP_006409 Q6UX06 OLFM4_HUMAN olfactomedin 4 precursor 32 Ser-rich. cell adhesion extracellular space skin(1) 1 Breast(56;0.000776)|Lung NSC(96;0.000814)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173) GBM - Glioblastoma multiforme(99;3.13e-08) TTCCCAGCCCCGGCTTCAGCT 0.418 NA 9 165 0 0 0 0 HECTD1 25831 broad.mit.edu 37 14 31637671 31637671 + Missense_Mutation SNP C C G TCGA-CR-6484-01A-11D-1870-08 TCGA-CR-6484-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e72df726-1575-4789-afac-3b15a7643401 b0fa7dd3-58da-45b8-bff4-1d665e21df9f g.chr14:31637671C>G uc001wrc.1 - 10 1944 c.1455G>C c.(1453-1455)TGG>TGC p.W485C HECTD1_uc001wrd.1_5'UTR NM_015382 NP_056197 Q9ULT8 HECD1_HUMAN HECT domain containing 1 485 ANK 3. protein ubiquitination involved in ubiquitin-dependent protein catabolic process intracellular metal ion binding|protein binding|ubiquitin-protein ligase activity ovary(3)|large_intestine(1)|lung(1) 5 Hepatocellular(127;0.0877)|Breast(36;0.176) LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173) GBM - Glioblastoma multiforme(265;0.00617) CTGGACACATCCAATCACCTA 0.308 NA 19 145 0 0 0 0 PNN 5411 broad.mit.edu 37 14 39650613 39650613 + Missense_Mutation SNP G G C TCGA-CR-6484-01A-11D-1870-08 TCGA-CR-6484-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e72df726-1575-4789-afac-3b15a7643401 b0fa7dd3-58da-45b8-bff4-1d665e21df9f g.chr14:39650613G>C uc001wuw.3 + 9 1797 c.1700G>C c.(1699-1701)AGA>ACA p.R567T NM_002687 NP_002678 Q9H307 PININ_HUMAN pinin, desmosome associated protein 567 Ser-rich. cell adhesion|regulation of transcription, DNA-dependent|transcription, DNA-dependent catalytic step 2 spliceosome|desmosome|intermediate filament|nuclear speck DNA binding|protein binding|structural molecule activity ovary(1) 1 Hepatocellular(127;0.213) LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711) GBM - Glioblastoma multiforme(112;0.0119) GGTCGAGCTAGAAATAAAACA 0.254 NA 4 52 0 0 0 0 SAV1 60485 broad.mit.edu 37 14 51102087 51102087 + Silent SNP C C T TCGA-CR-6484-01A-11D-1870-08 TCGA-CR-6484-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e72df726-1575-4789-afac-3b15a7643401 b0fa7dd3-58da-45b8-bff4-1d665e21df9f g.chr14:51102087C>T uc001wyg.1 - 6 1127 c.966G>A c.(964-966)CTG>CTA p.L322L SAV1_uc001wyh.1_Silent_p.L322L NM_021818 NP_068590 Q9H4B6 SAV1_HUMAN WW45 protein 322 SARAH. hippo signaling cascade cytoplasm|nucleus identical protein binding breast(1) 1 all_epithelial(31;0.000611)|Breast(41;0.0333) GTTCCCACTTCAGAATGTGGT 0.343 NA 11 30 0 0 0 0 PPM1A 5494 broad.mit.edu 37 14 60749451 60749451 + Missense_Mutation SNP G G A TCGA-CR-6484-01A-11D-1870-08 TCGA-CR-6484-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e72df726-1575-4789-afac-3b15a7643401 b0fa7dd3-58da-45b8-bff4-1d665e21df9f g.chr14:60749451G>A uc010apn.2 + 3 432 c.30G>A c.(28-30)ATG>ATA p.M10I PPM1A_uc001xew.3_Missense_Mutation_p.M83I|PPM1A_uc001xex.3_Missense_Mutation_p.M10I|PPM1A_uc001xey.3_Missense_Mutation_p.M10I NM_021003 NP_066283 P35813 PPM1A_HUMAN protein phosphatase 1A isoform 1 10 cell cycle arrest|insulin receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription, DNA-dependent|positive regulation of Wnt receptor signaling pathway|protein dephosphorylation|Wnt receptor signaling pathway cytosol|nucleus|protein serine/threonine phosphatase complex magnesium ion binding|manganese ion binding|protein serine/threonine phosphatase activity|signal transducer activity skin(1) 1 OV - Ovarian serous cystadenocarcinoma(108;0.046) AGCCAAAGATGGAAAAGCATA 0.443 NA 15 164 0 0 0 0 PRKCH 5583 broad.mit.edu 37 14 61952289 61952289 + Missense_Mutation SNP C C T TCGA-CR-6484-01A-11D-1870-08 TCGA-CR-6484-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e72df726-1575-4789-afac-3b15a7643401 b0fa7dd3-58da-45b8-bff4-1d665e21df9f g.chr14:61952289C>T uc001xfn.2 + 10 1653 c.1348C>T c.(1348-1350)CGT>TGT p.R450C PRKCH_uc010tsa.1_Missense_Mutation_p.R289C|PRKCH_uc010tsb.1_Missense_Mutation_p.R18C NM_006255 NP_006246 P24723 KPCL_HUMAN protein kinase C, eta 450 Protein kinase. intracellular signal transduction|platelet activation cytosol|plasma membrane ATP binding|enzyme binding|metal ion binding|protein kinase C activity ovary(2)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|large_intestine(1)|skin(1) 6 OV - Ovarian serous cystadenocarcinoma(108;0.045)|BRCA - Breast invasive adenocarcinoma(234;0.0906)|KIRC - Kidney renal clear cell carcinoma(182;0.182) GAAGTCTCGTCGTTTTGATGA 0.443 NA 37 273 0 0 0 0 FCF1 51077 broad.mit.edu 37 14 75200790 75200790 + Silent SNP C C T TCGA-CR-6484-01A-11D-1870-08 TCGA-CR-6484-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e72df726-1575-4789-afac-3b15a7643401 b0fa7dd3-58da-45b8-bff4-1d665e21df9f g.chr14:75200790C>T uc001xqh.2 + 7 516 c.465C>T c.(463-465)TAC>TAT p.Y155Y FCF1_uc001xqf.1_Silent_p.Y140Y|FCF1_uc001xqg.2_RNA|FCF1_uc001xqi.2_RNA NM_015962 NP_057046 Q9Y324 FCF1_HUMAN FCF1 small subunit 155 PINc. rRNA processing nucleolus ovary(1) 1 BRCA - Breast invasive adenocarcinoma(234;0.0037) ATAAGTGTTACATTGTGGCCA 0.443 NA 10 41 0 0 0 0 OTUB2 78990 broad.mit.edu 37 14 94511037 94511037 + Missense_Mutation SNP C C G TCGA-CR-6484-01A-11D-1870-08 TCGA-CR-6484-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e72df726-1575-4789-afac-3b15a7643401 b0fa7dd3-58da-45b8-bff4-1d665e21df9f g.chr14:94511037C>G uc001yci.2 + 5 569 c.409C>G c.(409-411)CTG>GTG p.L137V NM_023112 NP_075601 Q96DC9 OTUB2_HUMAN OTU domain, ubiquitin aldehyde binding 2 137 OTU. cellular amino acid metabolic process|protein K48-linked deubiquitination|protein K63-linked deubiquitination omega peptidase activity|protein binding|ubiquitin-specific protease activity 0 all_cancers(154;0.12) Epithelial(152;0.124)|all cancers(159;0.21)|COAD - Colon adenocarcinoma(157;0.215) GTTCCTGCGCCTGCTCACGTC 0.552 NA 3 35 0 0 0 0 EML1 2009 broad.mit.edu 37 14 100363569 100363569 + Silent SNP G G A TCGA-CR-6484-01A-11D-1870-08 TCGA-CR-6484-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e72df726-1575-4789-afac-3b15a7643401 b0fa7dd3-58da-45b8-bff4-1d665e21df9f g.chr14:100363569G>A uc001ygs.2 + 7 834 c.765G>A c.(763-765)GTG>GTA p.V255V EML1_uc010avt.1_Silent_p.V242V|EML1_uc010tww.1_Silent_p.V243V|EML1_uc001ygq.2_Silent_p.V274V|EML1_uc001ygr.2_Silent_p.V274V NM_004434 NP_004425 O00423 EMAL1_HUMAN echinoderm microtubule associated protein like 1 255 cytoplasm|microtubule|microtubule associated complex calcium ion binding|protein binding large_intestine(2)|pancreas(1)|ovary(1)|skin(1) 5 Melanoma(154;0.0879)|all_epithelial(191;0.216) CCGTGGTGGTGTTATACAACG 0.483 NA 9 57 0 0 0 0 RYR3 6263 broad.mit.edu 37 15 33955886 33955886 + Missense_Mutation SNP C C T TCGA-CR-6484-01A-11D-1870-08 TCGA-CR-6484-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e72df726-1575-4789-afac-3b15a7643401 b0fa7dd3-58da-45b8-bff4-1d665e21df9f g.chr15:33955886C>T uc001zhi.2 + 36 5637 c.5567C>T c.(5566-5568)GCG>GTG p.A1856V RYR3_uc010bar.2_Missense_Mutation_p.A1856V NM_001036 NP_001027 Q15413 RYR3_HUMAN ryanodine receptor 3 1856 4 X approximate repeats.|Cytoplasmic (By similarity). cellular calcium ion homeostasis integral to membrane calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity ovary(5)|central_nervous_system(4)|lung(1) 10 all_lung(180;7.18e-09) all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363) AACATGTCTGCGGCCCTGACT 0.552 NA 3 15 0 0 0 0 PAK6 56924 broad.mit.edu 37 15 40565875 40565875 + Nonsense_Mutation SNP G G T TCGA-CR-6484-01A-11D-1870-08 TCGA-CR-6484-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e72df726-1575-4789-afac-3b15a7643401 b0fa7dd3-58da-45b8-bff4-1d665e21df9f g.chr15:40565875G>T uc010bbl.2 + 9 2181 c.1741G>T c.(1741-1743)GAG>TAG p.E581* PAK6_uc010bbm.2_Nonsense_Mutation_p.E581*|PAK6_uc001zky.3_Nonsense_Mutation_p.E581*|PAK6_uc010bbn.2_Nonsense_Mutation_p.E581*|PAK6_uc001zlb.2_Nonsense_Mutation_p.E581* NM_001128628 NP_001122100 Q9NQU5 PAK6_HUMAN p21-activated kinase 6 581 Protein kinase. ATP binding|protein binding|protein serine/threonine kinase activity lung(5)|large_intestine(1)|ovary(1)|skin(1) 8 all_cancers(109;1.13e-18)|all_epithelial(112;1.62e-15)|Lung NSC(122;5.67e-11)|all_lung(180;1.41e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0823)|Colorectal(260;0.117) GBM - Glioblastoma multiforme(113;1.51e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0544) GTATGCCACTGAGGTAACCGT 0.572 NA 7 43 8.13e-05 8.62e-05 1 0 PLCB2 5330 broad.mit.edu 37 15 40582261 40582261 + Missense_Mutation SNP A A G TCGA-CR-6484-01A-11D-1870-08 TCGA-CR-6484-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e72df726-1575-4789-afac-3b15a7643401 b0fa7dd3-58da-45b8-bff4-1d665e21df9f g.chr15:40582261A>G uc001zld.2 - 30 3533 c.3232T>C c.(3232-3234)TCC>CCC p.S1078P PLCB2_uc001zlc.2_Missense_Mutation_p.S62P|PLCB2_uc010bbo.2_Missense_Mutation_p.S1074P|PLCB2_uc010ucm.1_Missense_Mutation_p.S1063P NM_004573 NP_004564 Q00722 PLCB2_HUMAN phospholipase C, beta 2 1078 Potential. activation of phospholipase C activity|intracellular signal transduction|lipid catabolic process|phospholipid metabolic process|synaptic transmission cytosol calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity ovary(3)|breast(3)|kidney(1)|pancreas(1) 8 all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117) GBM - Glioblastoma multiforme(113;9.38e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0508) TGGATGTGGGAGTTGTTAATC 0.373 NA 4 101 0 0 0 0 INO80 54617 broad.mit.edu 37 15 41387980 41387980 + Missense_Mutation SNP G G A TCGA-CR-6484-01A-11D-1870-08 TCGA-CR-6484-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e72df726-1575-4789-afac-3b15a7643401 b0fa7dd3-58da-45b8-bff4-1d665e21df9f g.chr15:41387980G>A uc001zni.2 - 3 503 c.290C>T c.(289-291)TCT>TTT p.S97F INO80_uc010ucu.1_RNA NM_017553 NP_060023 Q9ULG1 INO80_HUMAN INO80 complex homolog 1 97 Assembles INO80 complex module with putative regulatory components INO80E, INO80F, UCHL5, NFRKB, MCRS1 and IN80D. cell division|cellular response to ionizing radiation|cellular response to UV|chromatin remodeling|double-strand break repair via homologous recombination|mitotic sister chromatid segregation|positive regulation of cell growth|positive regulation of DNA replication involved in S phase|positive regulation of transcription from RNA polymerase II promoter|regulation of G1/S transition of mitotic cell cycle|spindle assembly|UV-damage excision repair Ino80 complex|microtubule actin binding|alpha-tubulin binding|ATP binding|ATPase activity|DNA binding|DNA helicase activity ovary(2)|pancreas(1)|skin(1) 4 TCCATTCAGAGAATATGTGTT 0.418 NA 6 73 0 0 0 0 OIP5 11339 broad.mit.edu 37 15 41624610 41624610 + Silent SNP G G C TCGA-CR-6484-01A-11D-1870-08 TCGA-CR-6484-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e72df726-1575-4789-afac-3b15a7643401 b0fa7dd3-58da-45b8-bff4-1d665e21df9f g.chr15:41624610G>C uc001znp.2 - 1 210 c.150C>G c.(148-150)CTC>CTG p.L50L NUSAP1_uc001znq.3_5'Flank|NUSAP1_uc001znr.3_5'Flank|NUSAP1_uc001zns.3_5'Flank|NUSAP1_uc010bce.2_5'Flank|NUSAP1_uc001znt.3_5'Flank|NUSAP1_uc001znv.3_5'Flank|NUSAP1_uc001znu.3_5'Flank|NUSAP1_uc010ucw.1_5'Flank NM_007280 NP_009211 O43482 MS18B_HUMAN Opa interacting protein 5 50 cell communication|cell division|CenH3-containing nucleosome assembly at centromere|mitosis Cajal body|chromatin|chromosome, centromeric region protein binding 0 all_cancers(109;4.16e-14)|all_epithelial(112;7.09e-12)|Lung NSC(122;1.14e-09)|all_lung(180;2.56e-08)|Melanoma(134;0.091)|Colorectal(260;0.175) OV - Ovarian serous cystadenocarcinoma(18;1.49e-16)|GBM - Glioblastoma multiforme(113;1.29e-06)|BRCA - Breast invasive adenocarcinoma(123;0.163) CTGCGGGGCCGAGCGGCGAGG 0.662 NA 13 58 0 0 0 0 LTK 4058 broad.mit.edu 37 15 41804373 41804373 + Silent SNP G G C TCGA-CR-6484-01A-11D-1870-08 TCGA-CR-6484-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e72df726-1575-4789-afac-3b15a7643401 b0fa7dd3-58da-45b8-bff4-1d665e21df9f g.chr15:41804373G>C uc001zoa.3 - 4 628 c.450C>G c.(448-450)CTC>CTG p.L150L LTK_uc001zob.3_Silent_p.L150L|LTK_uc010ucx.1_Silent_p.L150L|LTK_uc010bcg.2_Intron NM_002344 NP_002335 P29376 LTK_HUMAN leukocyte receptor tyrosine kinase isoform 1 150 Extracellular (Potential). apoptosis|cell proliferation|phosphatidylinositol 3-kinase cascade|transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane|soluble fraction ATP binding|transmembrane receptor protein tyrosine kinase activity lung(6)|central_nervous_system(1) 7 all_cancers(109;1.89e-19)|all_epithelial(112;2.28e-16)|Lung NSC(122;5.34e-11)|all_lung(180;1.33e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.172) OV - Ovarian serous cystadenocarcinoma(18;2.1e-17)|GBM - Glioblastoma multiforme(113;1.34e-06)|Colorectal(105;0.0148)|BRCA - Breast invasive adenocarcinoma(123;0.113) CCCCGAGACCGAGGGAGAAGA 0.602 NA TSP Lung(18;0.14) 3 29 0 0 0 0 PYGO1 26108 broad.mit.edu 37 15 55838571 55838571 + Nonsense_Mutation SNP G G A TCGA-CR-6484-01A-11D-1870-08 TCGA-CR-6484-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e72df726-1575-4789-afac-3b15a7643401 b0fa7dd3-58da-45b8-bff4-1d665e21df9f g.chr15:55838571G>A uc010bfl.1 - 3 966 c.910C>T c.(910-912)CAG>TAG p.Q304* PYGO1_uc002adf.1_Nonsense_Mutation_p.Q304* NM_015617 NP_056432 Q9Y3Y4 PYGO1_HUMAN pygopus homolog 1 304 Asn-rich. Wnt receptor signaling pathway nucleus zinc ion binding ovary(1)|skin(1) 2 all cancers(107;0.0131)|GBM - Glioblastoma multiforme(80;0.18) GGCTTATTCTGCGTCCCATTT 0.433 NA 49 323 0 0 0 0 TLN2 83660 broad.mit.edu 37 15 62993361 62993361 + Silent SNP T T C TCGA-CR-6484-01A-11D-1870-08 TCGA-CR-6484-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e72df726-1575-4789-afac-3b15a7643401 b0fa7dd3-58da-45b8-bff4-1d665e21df9f g.chr15:62993361T>C uc002alb.3 + 14 1644 c.1644T>C c.(1642-1644)TCT>TCC p.S548S NM_015059 NP_055874 Q9Y4G6 TLN2_HUMAN talin 2 548 cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane actin cytoskeleton|cytoplasm|focal adhesion|ruffle|synapse actin binding|insulin receptor binding|structural constituent of cytoskeleton ovary(5)|upper_aerodigestive_tract(2)|lung(2)|breast(2) 11 AAATCCATTCTCAAGTTGATG 0.468 NA 7 78 0 0 0 0 RASL12 51285 broad.mit.edu 37 15 65350896 65350896 + Silent SNP G G A rs147666289 TCGA-CR-6484-01A-11D-1870-08 TCGA-CR-6484-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e72df726-1575-4789-afac-3b15a7643401 b0fa7dd3-58da-45b8-bff4-1d665e21df9f g.chr15:65350896G>A uc002aoi.1 - 4 509 c.294C>T c.(292-294)TAC>TAT p.Y98Y RASL12_uc002aoj.1_Silent_p.Y79Y|RASL12_uc010uir.1_Silent_p.Y87Y NM_016563 NP_057647 Q9NYN1 RASLC_HUMAN RAS-like, family 12 protein 98 small GTPase mediated signal transduction membrane GTP binding|GTPase activity skin(1) 1 TGTCGACGCTGTACACCACCA 0.652 NA 10 43 0 0 0 0 EDC3 80153 broad.mit.edu 37 15 74967310 74967310 + Silent SNP G G A TCGA-CR-6484-01A-11D-1870-08 TCGA-CR-6484-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e72df726-1575-4789-afac-3b15a7643401 b0fa7dd3-58da-45b8-bff4-1d665e21df9f g.chr15:74967310G>A uc002ayn.2 - 5 644 c.156C>T c.(154-156)GTC>GTT p.V52V EDC3_uc002ayo.2_Silent_p.V52V|EDC3_uc002aym.2_Silent_p.V52V NM_001142443 NP_001135915 Q96F86 EDC3_HUMAN enhancer of mRNA decapping 3 52 Required for P-body targeting and interaction with DCP1A (By similarity). exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay cytoplasmic mRNA processing body|cytosol protein binding|RNA binding ovary(1) 1 ACCTGAAGGTGACTTCTGGAA 0.498 NA 29 176 0 0 0 0 KIAA1199 57214 broad.mit.edu 37 15 81181841 81181841 + Missense_Mutation SNP G G C TCGA-CR-6484-01A-11D-1870-08 TCGA-CR-6484-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e72df726-1575-4789-afac-3b15a7643401 b0fa7dd3-58da-45b8-bff4-1d665e21df9f g.chr15:81181841G>C uc002bfw.1 + 9 1254 c.994G>C c.(994-996)GAT>CAT p.D332H KIAA1199_uc010unn.1_Missense_Mutation_p.D332H NM_018689 NP_061159 Q8WUJ3 K1199_HUMAN KIAA1199 precursor 332 upper_aerodigestive_tract(1)|ovary(1)|skin(1) 3 GTTCGATCATGATAAAGTATC 0.463 NA 3 87 0 0 0 0 MEX3B 84206 broad.mit.edu 37 15 82336881 82336881 + Silent SNP G G C TCGA-CR-6484-01A-11D-1870-08 TCGA-CR-6484-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e72df726-1575-4789-afac-3b15a7643401 b0fa7dd3-58da-45b8-bff4-1d665e21df9f g.chr15:82336881G>C uc002bgq.1 - 2 645 c.330C>G c.(328-330)GTC>GTG p.V110V NM_032246 NP_115622 Q6ZN04 MEX3B_HUMAN mex-3 homolog B 110 KH 1. protein autophosphorylation cytoplasmic mRNA processing body|nucleus calcium ion binding|RNA binding|zinc ion binding breast(1)|kidney(1) 2 TCACAACAAAGACAGGCTCCT 0.577 NA 11 51 0 0 0 0 CPEB1 64506 broad.mit.edu 37 15 83226644 83226644 + Missense_Mutation SNP C C G TCGA-CR-6484-01A-11D-1870-08 TCGA-CR-6484-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e72df726-1575-4789-afac-3b15a7643401 b0fa7dd3-58da-45b8-bff4-1d665e21df9f g.chr15:83226644C>G uc002bit.2 - 4 789 c.652G>C c.(652-654)GAC>CAC p.D218H CPEB1_uc002biq.2_Missense_Mutation_p.D83H|CPEB1_uc002bir.2_Missense_Mutation_p.D83H|CPEB1_uc002bis.2_Missense_Mutation_p.D83H|CPEB1_uc010uod.1_Intron|CPEB1_uc010uoe.1_Missense_Mutation_p.D161H|CPEB1_uc002biu.2_Missense_Mutation_p.D185H|CPEB1_uc010uof.1_Missense_Mutation_p.D83H|CPEB1_uc002biv.2_Missense_Mutation_p.D158H|CPEB1_uc002bip.2_5'Flank NM_001079533 NP_001073001 Q9BZB8 CPEB1_HUMAN cytoplasmic polyadenylation element binding 158 mRNA processing|regulation of translation cell junction|cytoplasmic mRNA processing body|dendrite|postsynaptic density|postsynaptic membrane nucleotide binding|RNA binding ovary(1)|breast(1) 2 BRCA - Breast invasive adenocarcinoma(143;0.229) GGAAACTTGTCCACCAAGTCA 0.567 NA 9 87 0 0 0 0 ABHD2 11057 broad.mit.edu 37 15 89738457 89738457 + Splice_Site SNP G G C TCGA-CR-6484-01A-11D-1870-08 TCGA-CR-6484-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e72df726-1575-4789-afac-3b15a7643401 b0fa7dd3-58da-45b8-bff4-1d665e21df9f g.chr15:89738457G>C uc002bnj.2 + 16 1999 c.1082_splice c.e16-1 p.E361_splice ABHD2_uc002bnk.2_Splice_Site_p.E361_splice NM_007011 NP_008942 P08910 ABHD2_HUMAN alpha/beta hydrolase domain containing protein integral to membrane carboxylesterase activity ovary(1)|lung(1) 2 Lung NSC(78;0.0472)|all_lung(78;0.089) TTCCCCTGCAGAGAAACGAGA 0.582 NA 19 81 0 0 0 0 PLIN1 5346 broad.mit.edu 37 15 90210983 90210983 + Silent SNP C C T TCGA-CR-6484-01A-11D-1870-08 TCGA-CR-6484-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e72df726-1575-4789-afac-3b15a7643401 b0fa7dd3-58da-45b8-bff4-1d665e21df9f g.chr15:90210983C>T uc010upx.1 - 7 923 c.813G>A c.(811-813)GCG>GCA p.A271A PLIN1_uc002boh.2_Silent_p.A271A NM_001145311 NP_001138783 O60240 PLIN1_HUMAN perilipin 1 271 triglyceride catabolic process lipid particle lipid binding central_nervous_system(1)|skin(1) 2 GCCGGGACACCGCCTGCATGG 0.552 NA 3 6 0 0 0 0 ITFG3 83986 broad.mit.edu 37 16 313748 313748 + Missense_Mutation SNP G G C TCGA-CR-6484-01A-11D-1870-08 TCGA-CR-6484-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e72df726-1575-4789-afac-3b15a7643401 b0fa7dd3-58da-45b8-bff4-1d665e21df9f g.chr16:313748G>C uc002cgf.2 + 10 1357 c.1162G>C c.(1162-1164)GAA>CAA p.E388Q ITFG3_uc002cgg.2_Missense_Mutation_p.E388Q|ITFG3_uc010uud.1_RNA|ITFG3_uc002cgh.2_Missense_Mutation_p.E388Q NM_032039 NP_114428 Q9H0X4 ITFG3_HUMAN integrin alpha FG-GAP repeat containing 3 388 Extracellular (Potential). integral to membrane central_nervous_system(1) 1 all_cancers(16;0.000129)|all_epithelial(16;0.000206)|Hepatocellular(16;0.00264)|Lung NSC(18;0.0626)|all_lung(18;0.13) TGTAGCCGTTGAAAACGGAAC 0.537 NA 12 58 0 0 0 0 IFT140 9742 broad.mit.edu 37 16 1621494 1621494 + Silent SNP C C T TCGA-CR-6484-01A-11D-1870-08 TCGA-CR-6484-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e72df726-1575-4789-afac-3b15a7643401 b0fa7dd3-58da-45b8-bff4-1d665e21df9f g.chr16:1621494C>T uc002cmb.2 - 14 1928 c.1566G>A c.(1564-1566)GGG>GGA p.G522G IFT140_uc002clz.2_Silent_p.G173G NM_014714 NP_055529 Q96RY7 IF140_HUMAN intraflagellar transport 140 522 ovary(3)|pancreas(1)|skin(1) 5 Hepatocellular(780;0.219) AGCAGGGATTCCCCTCAGTCT 0.413 NA 3 43 0 0 0 0 RNF151 146310 broad.mit.edu 37 16 2017315 2017315 + Missense_Mutation SNP A A G TCGA-CR-6484-01A-11D-1870-08 TCGA-CR-6484-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e72df726-1575-4789-afac-3b15a7643401 b0fa7dd3-58da-45b8-bff4-1d665e21df9f g.chr16:2017315A>G uc002cnt.1 + 2 52 c.44A>G c.(43-45)GAC>GGC p.D15G RPS2_uc010bsa.1_5'Flank|RPS2_uc002cnl.2_5'Flank|RPS2_uc002cnm.2_5'Flank|RPS2_uc002cnn.2_5'Flank|RPS2_uc002cno.2_5'Flank NM_174903 NP_777563 Q2KHN1 RN151_HUMAN ring finger protein 151 15 cell differentiation|spermatogenesis cytoplasm|nucleus ubiquitin-protein ligase activity|zinc ion binding 0 AGCCCTCCTGACAGCAACTTC 0.582 NA 8 50 0 0 0 0 ITPRIPL2 162073 broad.mit.edu 37 16 19126188 19126188 + Silent SNP C C A TCGA-CR-6484-01A-11D-1870-08 TCGA-CR-6484-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e72df726-1575-4789-afac-3b15a7643401 b0fa7dd3-58da-45b8-bff4-1d665e21df9f g.chr16:19126188C>A uc002dfu.3 + 1 935 c.405C>A c.(403-405)CGC>CGA p.R135R ITPRIPL2_uc002dft.2_5'UTR NM_001034841 NP_001030013 Q3MIP1 IPIL2_HUMAN inositol 1,4,5-triphosphate receptor interacting 135 Cytoplasmic (Potential). integral to membrane skin(2) 2 GGGCTGGCCGCGCCCGGGGGT 0.667 NA 3 6 6.4e-05 6.84e-05 1 0 ANKS4B 257629 broad.mit.edu 37 16 21261527 21261527 + Missense_Mutation SNP G G C TCGA-CR-6484-01A-11D-1870-08 TCGA-CR-6484-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e72df726-1575-4789-afac-3b15a7643401 b0fa7dd3-58da-45b8-bff4-1d665e21df9f g.chr16:21261527G>C uc010bwp.1 + 2 683 c.640G>C c.(640-642)GAT>CAT p.D214H CRYM_uc010bwq.1_Intron NM_145865 NP_665872 Q8N8V4 ANS4B_HUMAN harmonin-interacting ankyrin-repeat containing 214 ovary(2) 2 GBM - Glioblastoma multiforme(48;0.0565) GAAGAACAAAGATACAGCAGA 0.478 NA 8 72 0 0 0 0 ANKS4B 257629 broad.mit.edu 37 16 21261721 21261721 + Missense_Mutation SNP G G T TCGA-CR-6484-01A-11D-1870-08 TCGA-CR-6484-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e72df726-1575-4789-afac-3b15a7643401 b0fa7dd3-58da-45b8-bff4-1d665e21df9f g.chr16:21261721G>T uc010bwp.1 + 2 877 c.834G>T c.(832-834)AGG>AGT p.R278S CRYM_uc010bwq.1_Intron NM_145865 NP_665872 Q8N8V4 ANS4B_HUMAN harmonin-interacting ankyrin-repeat containing 278 ovary(2) 2 GBM - Glioblastoma multiforme(48;0.0565) TTTTTAGAAGGAACAGGATAT 0.453 NA 8 81 1.26e-09 1.38e-09 1 0 ANKS4B 257629 broad.mit.edu 37 16 21261982 21261982 + Missense_Mutation SNP G G T TCGA-CR-6484-01A-11D-1870-08 TCGA-CR-6484-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e72df726-1575-4789-afac-3b15a7643401 b0fa7dd3-58da-45b8-bff4-1d665e21df9f g.chr16:21261982G>T uc010bwp.1 + 2 1138 c.1095G>T c.(1093-1095)AAG>AAT p.K365N CRYM_uc010bwq.1_Intron NM_145865 NP_665872 Q8N8V4 ANS4B_HUMAN harmonin-interacting ankyrin-repeat containing 365 SAM. ovary(2) 2 GBM - Glioblastoma multiforme(48;0.0565) CTATCTTCAAGAGAGAGCAGA 0.502 NA 9 69 0.000274275 0.000289168 1 0 ANKS4B 257629 broad.mit.edu 37 16 21261991 21261991 + Missense_Mutation SNP G G T TCGA-CR-6484-01A-11D-1870-08 TCGA-CR-6484-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e72df726-1575-4789-afac-3b15a7643401 b0fa7dd3-58da-45b8-bff4-1d665e21df9f g.chr16:21261991G>T uc010bwp.1 + 2 1147 c.1104G>T c.(1102-1104)CAG>CAT p.Q368H CRYM_uc010bwq.1_Intron NM_145865 NP_665872 Q8N8V4 ANS4B_HUMAN harmonin-interacting ankyrin-repeat containing 368 SAM. ovary(2) 2 GBM - Glioblastoma multiforme(48;0.0565) AGAGAGAGCAGATTGATCTAG 0.502 NA 11 78 0.000673444 0.000705753 1 0 METTL9 51108 broad.mit.edu 37 16 21624068 21624068 + Missense_Mutation SNP G G A TCGA-CR-6484-01A-11D-1870-08 TCGA-CR-6484-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e72df726-1575-4789-afac-3b15a7643401 b0fa7dd3-58da-45b8-bff4-1d665e21df9f g.chr16:21624068G>A uc002dje.2 + 2 467 c.268G>A c.(268-270)GAG>AAG p.E90K uc002diq.3_Intron|METTL9_uc002djf.2_Missense_Mutation_p.E90K NM_016025 NP_057109 Q9H1A3 METL9_HUMAN methyltransferase like 9 isoform 1 90 ovary(1) 1 GBM - Glioblastoma multiforme(48;0.0759) CAACAGCATTGAGAAATCGGG 0.373 NA 6 73 0 0 0 0 BCL7C 9274 broad.mit.edu 37 16 30904177 30904177 + Silent SNP G G A TCGA-CR-6484-01A-11D-1870-08 TCGA-CR-6484-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e72df726-1575-4789-afac-3b15a7643401 b0fa7dd3-58da-45b8-bff4-1d665e21df9f g.chr16:30904177G>A uc002dzv.2 - 3 398 c.264C>T c.(262-264)ATC>ATT p.I88I BCL7C_uc002dzt.1_Silent_p.I88I|uc002dzu.2_Intron|MIR762_hsa-mir-762|MI0003892_5'Flank NM_004765 NP_004756 Q8WUZ0 BCL7C_HUMAN B-cell CLL/lymphoma 7C 88 apoptosis 0 Colorectal(24;0.198) GATCCAGCAGGATGAGAGGGC 0.662 NA 18 105 0 0 0 0 PRSS53 339105 broad.mit.edu 37 16 31095655 31095655 + Missense_Mutation SNP C C T TCGA-CR-6484-01A-11D-1870-08 TCGA-CR-6484-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e72df726-1575-4789-afac-3b15a7643401 b0fa7dd3-58da-45b8-bff4-1d665e21df9f g.chr16:31095655C>T uc002eaq.2 - 10 1427 c.1427G>A c.(1426-1428)GGC>GAC p.G476D PRSS53_uc002ear.2_Missense_Mutation_p.G270D NM_001039503 NP_001034592 Q2L4Q9 PRS53_HUMAN polyserase 3 precursor 476 Peptidase S1 2. proteolysis extracellular region serine-type endopeptidase activity 0 CCCAGACAGGCCCTGTCAGGG 0.632 NA 3 32 0 0 0 0 CCDC102A 92922 broad.mit.edu 37 16 57555060 57555060 + Missense_Mutation SNP C C T TCGA-CR-6484-01A-11D-1870-08 TCGA-CR-6484-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e72df726-1575-4789-afac-3b15a7643401 b0fa7dd3-58da-45b8-bff4-1d665e21df9f g.chr16:57555060C>T uc002elw.2 - 4 1054 c.841G>A c.(841-843)GAG>AAG p.E281K NM_033212 NP_149989 Q96A19 C102A_HUMAN coiled-coil domain containing 102A 281 Potential. ovary(1) 1 TCTAGCTTCTCAATGTTCCTG 0.572 NA 8 73 0 0 0 0 CCDC135 84229 broad.mit.edu 37 16 57741450 57741450 + Missense_Mutation SNP G G A rs116219187 by1000genomes TCGA-CR-6484-01A-11D-1870-08 TCGA-CR-6484-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e72df726-1575-4789-afac-3b15a7643401 b0fa7dd3-58da-45b8-bff4-1d665e21df9f g.chr16:57741450G>A uc002emi.2 + 7 1026 c.937G>A c.(937-939)GAG>AAG p.E313K CCDC135_uc002emj.2_Missense_Mutation_p.E313K|CCDC135_uc002emk.2_Missense_Mutation_p.E248K NM_032269 NP_115645 Q8IY82 CC135_HUMAN coiled-coil domain containing 135 313 cytoplasm central_nervous_system(1) 1 GGGGAAGCGCGAGGTGCCTGA 0.587 NA 4 35 0 0 0 0 KCTD19 146212 broad.mit.edu 37 16 67328549 67328549 + Missense_Mutation SNP G G C TCGA-CR-6484-01A-11D-1870-08 TCGA-CR-6484-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e72df726-1575-4789-afac-3b15a7643401 b0fa7dd3-58da-45b8-bff4-1d665e21df9f g.chr16:67328549G>C uc002esu.2 - 11 1575 c.1524C>G c.(1522-1524)ATC>ATG p.I508M KCTD19_uc002est.2_Missense_Mutation_p.I280M|KCTD19_uc010vjj.1_Missense_Mutation_p.I251M NM_001100915 NP_001094385 Q17RG1 KCD19_HUMAN potassium channel tetramerisation domain 508 voltage-gated potassium channel complex voltage-gated potassium channel activity skin(1) 1 Ovarian(137;0.192) OV - Ovarian serous cystadenocarcinoma(108;0.0311)|Epithelial(162;0.0906) GCAGCCTCCTGATGGAAAAAG 0.488 NA 3 128 0 0 0 0 SLC12A4 6560 broad.mit.edu 37 16 67985892 67985892 + Missense_Mutation SNP G G C TCGA-CR-6484-01A-11D-1870-08 TCGA-CR-6484-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e72df726-1575-4789-afac-3b15a7643401 b0fa7dd3-58da-45b8-bff4-1d665e21df9f g.chr16:67985892G>C uc002euz.2 - 8 1107 c.966C>G c.(964-966)ATC>ATG p.I322M SLC12A4_uc010ceu.2_Missense_Mutation_p.I316M|SLC12A4_uc010vkh.1_Missense_Mutation_p.I291M|SLC12A4_uc010vki.1_Missense_Mutation_p.I322M|SLC12A4_uc010vkj.1_Missense_Mutation_p.I324M|SLC12A4_uc002eva.2_Missense_Mutation_p.I322M|SLC12A4_uc002evb.2_RNA NM_005072 NP_005063 Q9UP95 S12A4_HUMAN solute carrier family 12, member 4 isoform a 322 cell volume homeostasis|potassium ion transport|sodium ion transport integral to plasma membrane|membrane fraction potassium:chloride symporter activity ovary(1) 1 Ovarian(137;0.192) OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121) Bumetanide(DB00887)|Potassium Chloride(DB00761) TCTTGGCACAGATGTCAAACT 0.587 NA 4 28 0 0 0 0 KIAA0174 9798 broad.mit.edu 37 16 71961649 71961649 + Nonsense_Mutation SNP C C G TCGA-CR-6484-01A-11D-1870-08 TCGA-CR-6484-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e72df726-1575-4789-afac-3b15a7643401 b0fa7dd3-58da-45b8-bff4-1d665e21df9f g.chr16:71961649C>G uc002fbj.1 + 12 1356 c.1073C>G c.(1072-1074)TCA>TGA p.S358* KIAA0174_uc010cgh.1_Nonsense_Mutation_p.S358*|KIAA0174_uc002fbk.1_Missense_Mutation_p.Q344E|KIAA0174_uc002fbm.1_Nonsense_Mutation_p.S345*|KIAA0174_uc002fbl.1_Nonsense_Mutation_p.S314*|KIAA0174_uc002fbn.1_Nonsense_Mutation_p.S197*|KIAA0174_uc010cgi.1_Nonsense_Mutation_p.S116*|KIAA0174_uc010cgj.1_Nonsense_Mutation_p.S262*|KIAA0174_uc010vml.1_RNA P53990 IST1_HUMAN SubName: Full=cDNA FLJ32696 fis, clone TESTI2000358; SubName: Full=cDNA FLJ77725; 343 Interaction with VTA1. cell cycle|cell division cytoplasmic membrane-bounded vesicle|ER-Golgi intermediate compartment protein binding ovary(1) 1 GCCAGCACCTCAGCATCTGAA 0.463 NA 10 253 0 0 0 0 DHODH 1723 broad.mit.edu 37 16 72057137 72057137 + Missense_Mutation SNP C C G TCGA-CR-6484-01A-11D-1870-08 TCGA-CR-6484-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e72df726-1575-4789-afac-3b15a7643401 b0fa7dd3-58da-45b8-bff4-1d665e21df9f g.chr16:72057137C>G uc002fbp.2 + 7 914 c.893C>G c.(892-894)TCT>TGT p.S298C DHODH_uc010cgk.2_RNA NM_001361 NP_001352 Q02127 PYRD_HUMAN dihydroorotate dehydrogenase precursor 298 Mitochondrial intermembrane (By similarity). 'de novo' pyrimidine base biosynthetic process|pyrimidine nucleoside biosynthetic process|UMP biosynthetic process integral to membrane|mitochondrial inner membrane dihydroorotate oxidase activity 0 Ovarian(137;0.125) Atovaquone(DB01117)|Leflunomide(DB01097) GCCCTGCGCTCTGAAACAGGA 0.562 NA 8 51 0 0 0 0 TXNL4B 54957 broad.mit.edu 37 16 72124582 72124582 + Missense_Mutation SNP C C G TCGA-CR-6484-01A-11D-1870-08 TCGA-CR-6484-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e72df726-1575-4789-afac-3b15a7643401 b0fa7dd3-58da-45b8-bff4-1d665e21df9f g.chr16:72124582C>G uc002fca.2 - 2 378 c.67G>C c.(67-69)GAG>CAG p.E23Q TXNL4B_uc010cgl.2_RNA|TXNL4B_uc010vmn.1_Missense_Mutation_p.E23Q|TXNL4B_uc010vmo.1_Missense_Mutation_p.E23Q NM_017853 NP_060323 Q9NX01 TXN4B_HUMAN thioredoxin-like 4B 23 mitosis|mRNA processing|RNA splicing spliceosomal complex ovary(1) 1 AACACCTTCTCAGCAGTACTT 0.398 NA 10 61 0 0 0 0 CNTNAP4 85445 broad.mit.edu 37 16 76572114 76572114 + Missense_Mutation SNP G G A TCGA-CR-6484-01A-11D-1870-08 TCGA-CR-6484-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e72df726-1575-4789-afac-3b15a7643401 b0fa7dd3-58da-45b8-bff4-1d665e21df9f g.chr16:76572114G>A uc002feu.1 + 21 3482 c.3097G>A c.(3097-3099)GGT>AGT p.G1033S CNTNAP4_uc002fev.1_Missense_Mutation_p.G897S|CNTNAP4_uc010chb.1_Missense_Mutation_p.G960S|CNTNAP4_uc002fex.1_Missense_Mutation_p.G1036S NM_033401 NP_207837 Q9C0A0 CNTP4_HUMAN cell recognition protein CASPR4 isoform 1 1033 Extracellular (Potential). cell adhesion|signal transduction integral to membrane receptor binding ovary(1)|pancreas(1) 2 TTCATTTCATGGTGATATGAA 0.373 NA 9 84 0 0 0 0 ZNF232 7775 broad.mit.edu 37 17 5012863 5012863 + Silent SNP C C T TCGA-CR-6484-01A-11D-1870-08 TCGA-CR-6484-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e72df726-1575-4789-afac-3b15a7643401 b0fa7dd3-58da-45b8-bff4-1d665e21df9f g.chr17:5012863C>T uc002gas.2 - 3 997 c.243G>A c.(241-243)CTG>CTA p.L81L ZNF232_uc002gar.1_Silent_p.L108L|ZNF232_uc002gat.2_Silent_p.L108L|ZNF232_uc010vsv.1_Silent_p.L108L NM_014519 NP_055334 Q9UNY5 ZN232_HUMAN zinc finger protein 232 81 SCAN box. viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding large_intestine(1)|ovary(1) 2 TCTCTGGCCTCAGCCACTCAC 0.582 NA 16 53 0 0 0 0 GPS2 2874 broad.mit.edu 37 17 7216603 7216603 + Silent SNP G G C TCGA-CR-6484-01A-11D-1870-08 TCGA-CR-6484-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e72df726-1575-4789-afac-3b15a7643401 b0fa7dd3-58da-45b8-bff4-1d665e21df9f g.chr17:7216603G>C uc002gfv.1 - 8 995 c.732C>G c.(730-732)CTC>CTG p.L244L GPS2_uc002gfw.1_Silent_p.L206L|GPS2_uc002gfx.1_Silent_p.L244L|NEURL4_uc002gfy.1_RNA|GPS2_uc002gfz.1_Silent_p.L244L NM_004489 NP_004480 Q13227 GPS2_HUMAN G protein pathway suppressor 2 244 cell cycle|inactivation of MAPK activity|JNK cascade|negative regulation of JNK cascade|negative regulation of transcription from RNA polymerase II promoter transcriptional repressor complex GTPase inhibitor activity|protein binding|transcription corepressor activity ovary(2)|pancreas(1) 3 Prostate(122;0.157) CACCAGGCTGGAGGAAACCTA 0.557 NA OREG0024133 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 16 73 0 0 0 0 TP53 7157 broad.mit.edu 37 17 7578263 7578263 + Nonsense_Mutation SNP G G A TCGA-CR-6484-01A-11D-1870-08 TCGA-CR-6484-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e72df726-1575-4789-afac-3b15a7643401 b0fa7dd3-58da-45b8-bff4-1d665e21df9f g.chr17:7578263G>A uc002gim.2 - 6 780 c.586C>T c.(586-588)CGA>TGA p.R196* TP53_uc002gig.1_Nonsense_Mutation_p.R196*|TP53_uc002gih.2_Nonsense_Mutation_p.R196*|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Nonsense_Mutation_p.R64*|TP53_uc010cng.1_Nonsense_Mutation_p.R64*|TP53_uc002gii.1_Nonsense_Mutation_p.R64*|TP53_uc010cnh.1_Nonsense_Mutation_p.R196*|TP53_uc010cni.1_Nonsense_Mutation_p.R196*|TP53_uc002gij.2_Nonsense_Mutation_p.R196*|TP53_uc010cnj.1_Intron|TP53_uc002gin.2_Nonsense_Mutation_p.R103*|TP53_uc002gio.2_Nonsense_Mutation_p.R64*|TP53_uc010vug.1_Nonsense_Mutation_p.R157* NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 196 Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity). R -> L (in sporadic cancers; somatic mutation).|R -> P (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> S (in a sporadic cancer; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> G (in sporadic cancers; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.R196*(125)|p.R196P(12)|p.0?(7)|p.R196R(5)|p.R196fs*51(4)|p.A189_V197delAPPQHLIRV(4)|p.R196Q(3)|p.K164_P219del(1)|p.R196L(1)|p.I195fs*50(1)|p.P191fs*6(1)|p.I195_G199delIRVEG(1)|p.R64*(1)|p.I195fs*12(1)|p.R103*(1) large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1) 22245 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) CCTTCCACTCGGATAAGATGC 0.552 111 Mis|N|F breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types Other_conserved_DNA_damage_response_genes Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 7 24 0 0 0 0 CHD3 1107 broad.mit.edu 37 17 7810759 7810759 + Missense_Mutation SNP G G C TCGA-CR-6484-01A-11D-1870-08 TCGA-CR-6484-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e72df726-1575-4789-afac-3b15a7643401 b0fa7dd3-58da-45b8-bff4-1d665e21df9f g.chr17:7810759G>C uc002gje.2 + 32 5027 c.4877G>C c.(4876-4878)GGA>GCA p.G1626A CHD3_uc002gjd.2_Missense_Mutation_p.G1685A|CHD3_uc002gjf.2_Missense_Mutation_p.G1626A|CHD3_uc002gjh.2_Missense_Mutation_p.G202A|CHD3_uc002gjj.2_5'Flank NM_001005273 NP_001005273 Q12873 CHD3_HUMAN chromodomain helicase DNA binding protein 3 1626 Required for interaction with PCNT. chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent microtubule organizing center|NuRD complex ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|zinc ion binding breast(1) 1 Prostate(122;0.202) GGGGTGCCTGGAGAGATGGAG 0.592 NA 3 27 0 0 0 0 TMEM107 84314 broad.mit.edu 37 17 8077524 8077524 + Missense_Mutation SNP G G C TCGA-CR-6484-01A-11D-1870-08 TCGA-CR-6484-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e72df726-1575-4789-afac-3b15a7643401 b0fa7dd3-58da-45b8-bff4-1d665e21df9f g.chr17:8077524G>C uc002gkg.3 - 5 530 c.420C>G c.(418-420)TTC>TTG p.F140L TMEM107_uc002gkh.3_Missense_Mutation_p.F146L|TMEM107_uc002gki.3_Missense_Mutation_p.F139L|TMEM107_uc002gkj.3_RNA|TMEM107_uc002gkk.2_3'UTR NM_183065 NP_898888 Q6UX40 TM107_HUMAN transmembrane protein 107 isoform 2 140 integral to membrane 0 AAGGTAATCAGAAGGGTTTCT 0.502 NA 10 66 0 0 0 0 PFAS 5198 broad.mit.edu 37 17 8157504 8157504 + Missense_Mutation SNP G G A TCGA-CR-6484-01A-11D-1870-08 TCGA-CR-6484-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e72df726-1575-4789-afac-3b15a7643401 b0fa7dd3-58da-45b8-bff4-1d665e21df9f g.chr17:8157504G>A uc002gkr.2 + 3 304 c.163G>A c.(163-165)GAG>AAG p.E55K PFAS_uc010vuv.1_5'UTR NM_012393 NP_036525 O15067 PUR4_HUMAN phosphoribosylformylglycinamidine synthase 55 'de novo' IMP biosynthetic process|glutamine metabolic process|purine base metabolic process cytosol ATP binding|phosphoribosylformylglycinamidine synthase activity|protein binding ovary(2)|central_nervous_system(2)|pancreas(1) 5 L-Glutamic Acid(DB00142)|L-Glutamine(DB00130) CCCCAGTGCTGAGGAGACAAA 0.587 NA 7 47 0 0 0 0 MYOCD 93649 broad.mit.edu 37 17 12656083 12656083 + Missense_Mutation SNP C C T TCGA-CR-6484-01A-11D-1870-08 TCGA-CR-6484-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e72df726-1575-4789-afac-3b15a7643401 b0fa7dd3-58da-45b8-bff4-1d665e21df9f g.chr17:12656083C>T uc002gnn.2 + 10 1777 c.1478C>T c.(1477-1479)ACG>ATG p.T493M MYOCD_uc002gno.2_Missense_Mutation_p.T493M|MYOCD_uc002gnp.1_Missense_Mutation_p.T397M|MYOCD_uc002gnq.2_Missense_Mutation_p.T212M NM_153604 NP_705832 Q8IZQ8 MYCD_HUMAN myocardin isoform 2 493 Ser-rich. cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation nucleus nucleic acid binding|RNA polymerase II transcription factor binding transcription factor activity|transcription factor binding central_nervous_system(2)|skin(2)|ovary(1) 5 UCEC - Uterine corpus endometrioid carcinoma (92;0.0969) CACGTGTGCACGGAGGAAAGT 0.612 NA 8 19 0 0 0 0 SLC6A4 6532 broad.mit.edu 37 17 28530257 28530257 + Nonsense_Mutation SNP G G T TCGA-CR-6484-01A-11D-1870-08 TCGA-CR-6484-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e72df726-1575-4789-afac-3b15a7643401 b0fa7dd3-58da-45b8-bff4-1d665e21df9f g.chr17:28530257G>T uc002hey.3 - 14 2295 c.1751C>A c.(1750-1752)TCA>TAA p.S584* SLC6A4_uc010csg.2_RNA NM_001045 NP_001036 P31645 SC6A4_HUMAN solute carrier family 6 member 4 584 Helical; Name=12; (Potential). response to toxin|serotonin uptake|thalamus development cytosol|endomembrane system|endosome membrane|membrane raft actin filament binding|Rab GTPase binding|serotonin transmembrane transporter activity|serotonin:sodium symporter activity skin(3)|ovary(1) 4 Amineptine(DB04836)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Citalopram(DB00215)|Clomipramine(DB01242)|Cocaine(DB00907)|Desipramine(DB01151)|Dexfenfluramine(DB01191)|Dextromethorphan(DB00514)|Doxepin(DB01142)|Duloxetine(DB00476)|Escitalopram(DB01175)|Fluoxetine(DB00472)|Fluvoxamine(DB00176)|Imipramine(DB00458)|Methylphenidate(DB00422)|Milnacipran(DB04896)|Minaprine(DB00805)|Nefazodone(DB01149)|Nortriptyline(DB00540)|Paroxetine(DB00715)|Phentermine(DB00191)|Protriptyline(DB00344)|Sertraline(DB01104)|Sibutramine(DB01105)|Tegaserod(DB01079)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Venlafaxine(DB00285)|Zimelidine(DB04832) AATGAAAGATGAGGTTCCTAT 0.398 NA 9 100 3.07e-06 3.32e-06 1 0 TNS4 84951 broad.mit.edu 37 17 38633892 38633892 + Missense_Mutation SNP G G A TCGA-CR-6484-01A-11D-1870-08 TCGA-CR-6484-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e72df726-1575-4789-afac-3b15a7643401 b0fa7dd3-58da-45b8-bff4-1d665e21df9f g.chr17:38633892G>A uc010cxb.2 - 13 2260 c.2096C>T c.(2095-2097)TCG>TTG p.S699L TNS4_uc002huu.3_Missense_Mutation_p.S112L NM_032865 NP_116254 Q8IZW8 TENS4_HUMAN tensin 4 precursor 699 Phosphatase tensin-type. apoptosis|protein localization cytoplasm|cytoskeleton|focal adhesion actin binding large_intestine(1)|ovary(1)|central_nervous_system(1)|skin(1) 4 Breast(137;0.000496) STAD - Stomach adenocarcinoma(5;5.91e-05) GATGACCTGCGAGGCTGGCTG 0.587 NA 9 72 0 0 0 0 KRT12 3859 broad.mit.edu 37 17 39019596 39019596 + Splice_Site SNP C C T TCGA-CR-6484-01A-11D-1870-08 TCGA-CR-6484-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e72df726-1575-4789-afac-3b15a7643401 b0fa7dd3-58da-45b8-bff4-1d665e21df9f g.chr17:39019596C>T uc002hvk.2 - 6 1120 c.1096_splice c.e6-1 p.K366_splice NM_000223 NP_000214 Q99456 K1C12_HUMAN keratin 12 visual perception intermediate filament structural molecule activity ovary(1) 1 Breast(137;0.000301) GGGATTTCTTCTGCACGTGGG 0.552 NA 3 12 0 0 0 0 IMP5 162540 broad.mit.edu 37 17 43924109 43924109 + Missense_Mutation SNP G G A TCGA-CR-6484-01A-11D-1870-08 TCGA-CR-6484-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e72df726-1575-4789-afac-3b15a7643401 b0fa7dd3-58da-45b8-bff4-1d665e21df9f g.chr17:43924109G>A uc010wka.1 + 1 1837 c.1837G>A c.(1837-1839)GAG>AAG p.E613K LOC100128977_uc010wjz.1_Intron NM_175882 NP_787078 Q8IUH8 IMP5_HUMAN intramembrane protease 5 precursor 613 Extracellular (Potential). integral to membrane aspartic-type endopeptidase activity pancreas(2) 2 Colorectal(2;0.0416) BRCA - Breast invasive adenocarcinoma(366;0.148) GGATCCTAATGAGCTGCCCTT 0.592 NA 13 44 0 0 0 0 HELZ 9931 broad.mit.edu 37 17 65083187 65083187 + Missense_Mutation SNP C C G TCGA-CR-6484-01A-11D-1870-08 TCGA-CR-6484-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e72df726-1575-4789-afac-3b15a7643401 b0fa7dd3-58da-45b8-bff4-1d665e21df9f g.chr17:65083187C>G uc010wqk.1 - 32 5442 c.5255G>C c.(5254-5256)AGA>ACA p.R1752T HELZ_uc002jfv.3_RNA|HELZ_uc002jfx.3_Missense_Mutation_p.R1751T NM_014877 NP_055692 helicase with zinc finger domain ovary(1)|pancreas(1) 2 all_cancers(12;1.24e-11)|Breast(2;1.05e-17)|all_epithelial(3;3.87e-13) ACCAGGTCCTCTGGGCTCATA 0.428 NA 8 36 0 0 0 0 CANT1 124583 broad.mit.edu 37 17 76989755 76989755 + Silent SNP G G C TCGA-CR-6484-01A-11D-1870-08 TCGA-CR-6484-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e72df726-1575-4789-afac-3b15a7643401 b0fa7dd3-58da-45b8-bff4-1d665e21df9f g.chr17:76989755G>C uc002jwn.2 - 6 1522 c.1083C>G c.(1081-1083)CTC>CTG p.L361L CANT1_uc002jwk.2_Silent_p.L361L|CANT1_uc002jwj.2_Silent_p.L361L|CANT1_uc002jwl.2_Intron|CANT1_uc002jwm.1_RNA NM_001159772 NP_001153244 Q8WVQ1 CANT1_HUMAN calcium activated nucleotidase 1 361 Lumenal (Potential). positive regulation of I-kappaB kinase/NF-kappaB cascade endoplasmic reticulum membrane|Golgi cisterna membrane|integral to membrane calcium ion binding|nucleoside-diphosphatase activity|signal transducer activity 0 BRCA - Breast invasive adenocarcinoma(99;0.0362)|OV - Ovarian serous cystadenocarcinoma(97;0.139) CCTCGGATTTGAGGGCCACAA 0.607 NA T ETV4 prostate OREG0024788 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 9 55 0 0 0 0 SMAD2 4087 broad.mit.edu 37 18 45374862 45374862 + Missense_Mutation SNP C C G TCGA-CR-6484-01A-11D-1870-08 TCGA-CR-6484-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e72df726-1575-4789-afac-3b15a7643401 b0fa7dd3-58da-45b8-bff4-1d665e21df9f g.chr18:45374862C>G uc002lcy.2 - 8 1229 c.981G>C c.(979-981)ATG>ATC p.M327I SMAD2_uc002lcz.2_Missense_Mutation_p.M327I|SMAD2_uc010xdc.1_Missense_Mutation_p.M297I|SMAD2_uc010xdd.1_Missense_Mutation_p.M297I NM_005901 NP_005892 Q15796 SMAD2_HUMAN Sma- and Mad-related protein 2 isoform 1 327 MH2. anterior/posterior pattern formation|cell fate commitment|common-partner SMAD protein phosphorylation|intracellular signal transduction|mesoderm formation|negative regulation of transcription, DNA-dependent|palate development|paraxial mesoderm morphogenesis|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription from RNA polymerase II promoter|primary miRNA processing|regulation of binding|regulation of transforming growth factor beta receptor signaling pathway|response to cholesterol|SMAD protein complex assembly|transforming growth factor beta receptor signaling pathway|zygotic specification of dorsal/ventral axis activin responsive factor complex|cytosol activating transcription factor binding|co-SMAD binding|double-stranded DNA binding|I-SMAD binding|R-SMAD binding|sequence-specific DNA binding transcription factor activity|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity|type I transforming growth factor beta receptor binding|ubiquitin protein ligase binding large_intestine(3)|lung(1)|central_nervous_system(1) 5 GCCTTCTTGTCATTTCTACCG 0.398 NA 7 64 0 0 0 0 RPS15 6209 broad.mit.edu 37 19 1440120 1440120 + Missense_Mutation SNP G G C TCGA-CR-6484-01A-11D-1870-08 TCGA-CR-6484-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e72df726-1575-4789-afac-3b15a7643401 b0fa7dd3-58da-45b8-bff4-1d665e21df9f g.chr19:1440120G>C uc002lsp.1 + 3 254 c.192G>C c.(190-192)AAG>AAC p.K64N RPS15_uc002lsq.1_Missense_Mutation_p.K71N NM_001018 NP_001009 P62841 RS15_HUMAN ribosomal protein S15 64 endocrine pancreas development|ribosomal small subunit export from nucleus|rRNA processing|translational elongation|translational termination|viral transcription cytosolic small ribosomal subunit|nucleoplasm DNA binding|protein binding|RNA binding 0 Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) GCAAGGCCAAGAAGGAGGCGC 0.662 NA 3 17 0 0 0 0 LMNB2 84823 broad.mit.edu 37 19 2444431 2444431 + Silent SNP C C G TCGA-CR-6484-01A-11D-1870-08 TCGA-CR-6484-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e72df726-1575-4789-afac-3b15a7643401 b0fa7dd3-58da-45b8-bff4-1d665e21df9f g.chr19:2444431C>G uc002lvy.2 - 2 399 c.312G>C c.(310-312)CTG>CTC p.L104L LMNB2_uc002lwa.1_Silent_p.L124L NM_032737 NP_116126 Q03252 LMNB2_HUMAN lamin B2 104 Rod.|Coil 1B. nuclear inner membrane structural molecule activity large_intestine(1)|ovary(1) 2 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) ACTCTGCCCTCAGCTTCCCAA 0.652 NA 6 41 0 0 0 0 LRG1 116844 broad.mit.edu 37 19 4538721 4538721 + Missense_Mutation SNP G G C TCGA-CR-6484-01A-11D-1870-08 TCGA-CR-6484-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e72df726-1575-4789-afac-3b15a7643401 b0fa7dd3-58da-45b8-bff4-1d665e21df9f g.chr19:4538721G>C uc002mau.2 - 2 286 c.275C>G c.(274-276)TCT>TGT p.S92C PLIN5_uc002mat.1_Intron NM_052972 NP_443204 P02750 A2GL_HUMAN leucine-rich alpha-2-glycoprotein 1 precursor 92 extracellular region|membrane ovary(1) 1 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0148)|STAD - Stomach adenocarcinoma(1328;0.18) TTGGAGCTTAGAGGCGCCCTG 0.627 NA 6 29 0 0 0 0 COL5A3 50509 broad.mit.edu 37 19 10080263 10080263 + Silent SNP G G A TCGA-CR-6484-01A-11D-1870-08 TCGA-CR-6484-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e72df726-1575-4789-afac-3b15a7643401 b0fa7dd3-58da-45b8-bff4-1d665e21df9f g.chr19:10080263G>A uc002mmq.1 - 56 4172 c.4086C>T c.(4084-4086)ATC>ATT p.I1362I NM_015719 NP_056534 P25940 CO5A3_HUMAN collagen, type V, alpha 3 preproprotein 1362 Triple-helical region. collagen fibril organization|skin development collagen type V collagen binding|extracellular matrix structural constituent ovary(7)|lung(1)|central_nervous_system(1)|skin(1) 10 Epithelial(33;7.11e-05) CAGGGCCAGGGATCCCTCGAA 0.672 NA 3 23 0 0 0 0 DOCK6 57572 broad.mit.edu 37 19 11333759 11333759 + Silent SNP G G C TCGA-CR-6484-01A-11D-1870-08 TCGA-CR-6484-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e72df726-1575-4789-afac-3b15a7643401 b0fa7dd3-58da-45b8-bff4-1d665e21df9f g.chr19:11333759G>C uc002mqs.3 - 25 3020 c.2979C>G c.(2977-2979)CTC>CTG p.L993L DOCK6_uc010xlq.1_Silent_p.L332L NM_020812 NP_065863 Q96HP0 DOCK6_HUMAN dedicator of cytokinesis 6 993 blood coagulation cytosol GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity ovary(2)|skin(1) 3 GGCTGGCGTTGAGGTGCTCGG 0.617 NA 6 74 0 0 0 0 DNAJB1 3337 broad.mit.edu 37 19 14627500 14627500 + Silent SNP T T C rs143985567 byFrequency TCGA-CR-6484-01A-11D-1870-08 TCGA-CR-6484-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e72df726-1575-4789-afac-3b15a7643401 b0fa7dd3-58da-45b8-bff4-1d665e21df9f g.chr19:14627500T>C uc002myz.1 - 2 610 c.570A>G c.(568-570)CTA>CTG p.L190L DNAJB1_uc010xnr.1_Silent_p.L90L NM_006145 NP_006136 P25685 DNJB1_HUMAN DnaJ (Hsp40) homolog, subfamily B, member 1 190 chaperone cofactor-dependent protein refolding|response to unfolded protein cytoplasm|nucleolus heat shock protein binding|unfolded protein binding 0 GBM - Glioblastoma multiforme(1328;0.0476) CGTCGGGGTTTAGCCGCTTGT 0.483 NA 4 302 0 0 0 0 C19orf44 84167 broad.mit.edu 37 19 16614078 16614078 + Nonsense_Mutation SNP C C G TCGA-CR-6484-01A-11D-1870-08 TCGA-CR-6484-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e72df726-1575-4789-afac-3b15a7643401 b0fa7dd3-58da-45b8-bff4-1d665e21df9f g.chr19:16614078C>G uc002neh.1 + 3 1035 c.962C>G c.(961-963)TCA>TGA p.S321* MED26_uc002nee.2_Intron|C19orf44_uc002nef.1_Nonsense_Mutation_p.S321*|C19orf44_uc002neg.2_Nonsense_Mutation_p.S321*|C19orf44_uc010eai.1_RNA NM_032207 NP_115583 Q9H6X5 CS044_HUMAN hypothetical protein LOC84167 321 0 GGCGCCTTTTCAAACTCAGTG 0.552 NA 12 111 0 0 0 0 NXNL1 115861 broad.mit.edu 37 19 17571473 17571473 + Missense_Mutation SNP C C T TCGA-CR-6484-01A-11D-1870-08 TCGA-CR-6484-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e72df726-1575-4789-afac-3b15a7643401 b0fa7dd3-58da-45b8-bff4-1d665e21df9f g.chr19:17571473C>T uc002ngs.2 - 1 253 c.206G>A c.(205-207)CGG>CAG p.R69Q NM_138454 NP_612463 Q96CM4 NXNL1_HUMAN nucleoredoxin-like 1 69 Thioredoxin. cell redox homeostasis nuclear outer membrane 0 CTGAGCCGCCCGCAGTACATA 0.587 NA 15 59 0 0 0 0 UPF1 5976 broad.mit.edu 37 19 18943117 18943117 + Missense_Mutation SNP C C G TCGA-CR-6484-01A-11D-1870-08 TCGA-CR-6484-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e72df726-1575-4789-afac-3b15a7643401 b0fa7dd3-58da-45b8-bff4-1d665e21df9f g.chr19:18943117C>G uc002nkg.2 + 1 374 c.99C>G c.(97-99)TTC>TTG p.F33L UPF1_uc002nkf.2_Missense_Mutation_p.F33L NM_002911 NP_002902 Q92900 RENT1_HUMAN regulator of nonsense transcripts 1 33 Sufficient for interaction with RENT2. cell cycle|DNA repair|DNA replication|histone mRNA catabolic process|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translational termination chromatin|cytoplasmic mRNA processing body|exon-exon junction complex ATP binding|ATP-dependent RNA helicase activity|chromatin binding|DNA binding|protein binding|protein binding|RNA binding|zinc ion binding ovary(1)|central_nervous_system(1) 2 GCTCCGAGTTCGAGTTCACCG 0.428 NA 21 69 0 0 0 0 ZNF90 7643 broad.mit.edu 37 19 20229332 20229332 + Silent SNP G G A TCGA-CR-6484-01A-11D-1870-08 TCGA-CR-6484-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e72df726-1575-4789-afac-3b15a7643401 b0fa7dd3-58da-45b8-bff4-1d665e21df9f g.chr19:20229332G>A uc002nor.2 + 4 1108 c.969G>A c.(967-969)AAG>AAA p.K323K ZNF90_uc002nos.1_Intron|ZNF90_uc002not.1_Intron NM_007138 NP_009069 Q03938 ZNF90_HUMAN zinc finger protein 90 323 C2H2-type 6. Golgi apparatus|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1)|skin(1) 2 AAGCCTTCAAGCTCTCCTCAA 0.418 NA 5 36 0 0 0 0 ZNF429 353088 broad.mit.edu 37 19 21720644 21720644 + Missense_Mutation SNP G G C TCGA-CR-6484-01A-11D-1870-08 TCGA-CR-6484-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e72df726-1575-4789-afac-3b15a7643401 b0fa7dd3-58da-45b8-bff4-1d665e21df9f g.chr19:21720644G>C uc002nqd.1 + 4 1926 c.1789G>C c.(1789-1791)GAA>CAA p.E597Q ZNF429_uc010ecu.1_Intron NM_001001415 NP_001001415 Q86V71 ZN429_HUMAN zinc finger protein 429 597 C2H2-type 17. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(2) 2 CAAATGTGAAGAATGTGGCAA 0.358 NA 6 58 0 0 0 0 ZNF681 148213 broad.mit.edu 37 19 23927132 23927132 + Nonsense_Mutation SNP G G C TCGA-CR-6484-01A-11D-1870-08 TCGA-CR-6484-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e72df726-1575-4789-afac-3b15a7643401 b0fa7dd3-58da-45b8-bff4-1d665e21df9f g.chr19:23927132G>C uc002nrk.3 - 4 1362 c.1220C>G c.(1219-1221)TCA>TGA p.S407* ZNF681_uc002nrl.3_Nonsense_Mutation_p.S338*|ZNF681_uc002nrj.3_Nonsense_Mutation_p.S338* NM_138286 NP_612143 Q96N22 ZN681_HUMAN zinc finger protein 681 407 C2H2-type 9. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206) AGTAAGGTGTGAGGACTTGTT 0.398 NA 8 71 0 0 0 0 ZNF536 9745 broad.mit.edu 37 19 31039498 31039498 + Missense_Mutation SNP C C G TCGA-CR-6484-01A-11D-1870-08 TCGA-CR-6484-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e72df726-1575-4789-afac-3b15a7643401 b0fa7dd3-58da-45b8-bff4-1d665e21df9f g.chr19:31039498C>G uc002nsu.1 + 4 3110 c.2972C>G c.(2971-2973)TCG>TGG p.S991W ZNF536_uc010edd.1_Missense_Mutation_p.S991W NM_014717 NP_055532 O15090 ZN536_HUMAN zinc finger protein 536 991 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus zinc ion binding ovary(7)|large_intestine(2)|skin(2) 11 Esophageal squamous(110;0.0834) CCGGGCTCCTCGGTAACTGTG 0.577 NA 10 68 0 0 0 0 GPATCH1 55094 broad.mit.edu 37 19 33592477 33592477 + Missense_Mutation SNP G G C TCGA-CR-6484-01A-11D-1870-08 TCGA-CR-6484-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e72df726-1575-4789-afac-3b15a7643401 b0fa7dd3-58da-45b8-bff4-1d665e21df9f g.chr19:33592477G>C uc002nug.1 + 9 1391 c.1077G>C c.(1075-1077)AAG>AAC p.K359N NM_018025 NP_060495 Q9BRR8 GPTC1_HUMAN G patch domain containing 1 359 catalytic step 2 spliceosome nucleic acid binding skin(1) 1 Esophageal squamous(110;0.137) TATCTTCTAAGAAAGTAAGAA 0.303 NA 9 48 0 0 0 0 PDCD2L 84306 broad.mit.edu 37 19 34912556 34912556 + Silent SNP C C G TCGA-CR-6484-01A-11D-1870-08 TCGA-CR-6484-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e72df726-1575-4789-afac-3b15a7643401 b0fa7dd3-58da-45b8-bff4-1d665e21df9f g.chr19:34912556C>G uc002nvj.2 + 6 963 c.930C>G c.(928-930)CTC>CTG p.L310L NM_032346 NP_115722 Q9BRP1 PDD2L_HUMAN programmed cell death 2-like 310 cytoplasm ovary(1) 1 Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.211) TCAGCATGCTCAAGAGTGCTA 0.408 NA 13 102 0 0 0 0 WDR62 284403 broad.mit.edu 37 19 36594781 36594781 + Missense_Mutation SNP C C G TCGA-CR-6484-01A-11D-1870-08 TCGA-CR-6484-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e72df726-1575-4789-afac-3b15a7643401 b0fa7dd3-58da-45b8-bff4-1d665e21df9f g.chr19:36594781C>G uc002odc.2 + 30 4127 c.4036C>G c.(4036-4038)CCT>GCT p.P1346A WDR62_uc002odd.2_Missense_Mutation_p.P1351A NM_173636 NP_775907 O43379 WDR62_HUMAN WD repeat domain 62 isoform 2 1346 cerebral cortex development nucleus 0 Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.06) TCTCCCAGCTCCTGAGTCCCC 0.687 NA 8 60 0 0 0 0 ZNF574 64763 broad.mit.edu 37 19 42584276 42584276 + Missense_Mutation SNP G G C TCGA-CR-6484-01A-11D-1870-08 TCGA-CR-6484-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e72df726-1575-4789-afac-3b15a7643401 b0fa7dd3-58da-45b8-bff4-1d665e21df9f g.chr19:42584276G>C uc002osm.3 + 2 1687 c.1518G>C c.(1516-1518)AAG>AAC p.K506N ZNF574_uc002osk.3_Missense_Mutation_p.K596N NM_022752 NP_073589 Q6ZN55 ZN574_HUMAN zinc finger protein 574 506 C2H2-type 10; degenerate. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 Prostate(69;0.059) TGTTCAAGAAGAAGTCTCACG 0.582 NA 32 222 0 0 0 0 CIC 23152 broad.mit.edu 37 19 42797308 42797308 + Missense_Mutation SNP G G C TCGA-CR-6484-01A-11D-1870-08 TCGA-CR-6484-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e72df726-1575-4789-afac-3b15a7643401 b0fa7dd3-58da-45b8-bff4-1d665e21df9f g.chr19:42797308G>C uc002otf.1 + 15 3710 c.3670G>C c.(3670-3672)GAG>CAG p.E1224Q NM_015125 NP_055940 Q96RK0 CIC_HUMAN capicua homolog 1224 Pro-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding ovary(4)|breast(4)|lung(1)|central_nervous_system(1)|skin(1) 11 Prostate(69;0.00682) GTCTGAGCTTGAGGGGCAGCC 0.716 NA T DUX4 soft tissue sarcoma 3 15 0 0 0 0 ZC3H4 23211 broad.mit.edu 37 19 47570821 47570821 + Missense_Mutation SNP C C T TCGA-CR-6484-01A-11D-1870-08 TCGA-CR-6484-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e72df726-1575-4789-afac-3b15a7643401 b0fa7dd3-58da-45b8-bff4-1d665e21df9f g.chr19:47570821C>T uc002pga.3 - 15 2742 c.2704G>A c.(2704-2706)GAA>AAA p.E902K ZC3H4_uc002pgb.1_Intron NM_015168 NP_055983 Q9UPT8 ZC3H4_HUMAN zinc finger CCCH-type containing 4 902 nucleic acid binding|zinc ion binding skin(4)|ovary(2) 6 all_cancers(25;3.3e-08)|all_epithelial(76;2.28e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.0889) OV - Ovarian serous cystadenocarcinoma(262;5.76e-05)|all cancers(93;7.69e-05)|Epithelial(262;0.00354)|GBM - Glioblastoma multiforme(486;0.0372) AGGCTGCCTTCGGGCTTGGAG 0.697 NA 5 22 0 0 0 0 PRR12 57479 broad.mit.edu 37 19 50099779 50099779 + Missense_Mutation SNP G G C TCGA-CR-6484-01A-11D-1870-08 TCGA-CR-6484-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e72df726-1575-4789-afac-3b15a7643401 b0fa7dd3-58da-45b8-bff4-1d665e21df9f g.chr19:50099779G>C uc002poo.3 + 4 2187 c.2187G>C c.(2185-2187)AAG>AAC p.K729N NM_020719 NP_065770 Q9ULL5 PRR12_HUMAN proline rich 12 Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment DNA binding central_nervous_system(1)|pancreas(1) 2 all_lung(116;2.45e-07)|Lung NSC(112;1.24e-06)|Ovarian(192;0.0728)|all_neural(266;0.0887) OV - Ovarian serous cystadenocarcinoma(262;0.00319)|GBM - Glioblastoma multiforme(134;0.0132) AGGAGAAGAAGAAAGGGCCAG 0.652 NA 5 15 0 0 0 0 IL4I1 259307 broad.mit.edu 37 19 50394716 50394716 + Silent SNP G G C TCGA-CR-6484-01A-11D-1870-08 TCGA-CR-6484-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e72df726-1575-4789-afac-3b15a7643401 b0fa7dd3-58da-45b8-bff4-1d665e21df9f g.chr19:50394716G>C uc002pqt.1 - 6 660 c.582C>G c.(580-582)CTC>CTG p.L194L IL4I1_uc002pqv.1_Silent_p.L203L|IL4I1_uc010eno.1_Silent_p.L202L|IL4I1_uc002pqw.1_Silent_p.L202L|IL4I1_uc002pqu.1_Silent_p.L216L NM_152899 NP_690863 Q96RQ9 OXLA_HUMAN interleukin 4 induced 1 isoform 1 precursor 194 lysosome L-amino-acid oxidase activity lung(1)|ovary(1)|prostate(1) 3 all_lung(116;1.47e-05)|all_neural(266;0.0459)|Ovarian(192;0.0481) GBM - Glioblastoma multiforme(134;0.00245)|OV - Ovarian serous cystadenocarcinoma(262;0.0169) CCAGTGCCTTGAGGTCTTTGA 0.532 NA 17 116 0 0 0 0 POLD1 5424 broad.mit.edu 37 19 50902122 50902122 + Missense_Mutation SNP G G A TCGA-CR-6484-01A-11D-1870-08 TCGA-CR-6484-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e72df726-1575-4789-afac-3b15a7643401 b0fa7dd3-58da-45b8-bff4-1d665e21df9f g.chr19:50902122G>A uc002psb.3 + 2 70 c.14G>A c.(13-15)CGG>CAG p.R5Q POLD1_uc002psc.3_Missense_Mutation_p.R5Q|POLD1_uc010enx.2_RNA|POLD1_uc010eny.2_Missense_Mutation_p.R5Q NM_002691 NP_002682 P28340 DPOD1_HUMAN DNA-directed DNA polymerase delta 1 5 Nuclear localization signal (Potential). base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|DNA synthesis involved in DNA repair|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|response to UV|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair delta DNA polymerase complex|nucleoplasm|nucleotide-excision repair complex 3'-5'-exodeoxyribonuclease activity|chromatin binding|DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding|protein binding upper_aerodigestive_tract(1)|central_nervous_system(1) 2 all_neural(266;0.0571) OV - Ovarian serous cystadenocarcinoma(262;0.00794)|GBM - Glioblastoma multiforme(134;0.0195) GATGGCAAGCGGCGGCCAGGC 0.647 NA DNA_polymerases_(catalytic_subunits) 9 16 0 0 0 0 ZNF614 80110 broad.mit.edu 37 19 52519444 52519444 + Silent SNP G G A TCGA-CR-6484-01A-11D-1870-08 TCGA-CR-6484-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e72df726-1575-4789-afac-3b15a7643401 b0fa7dd3-58da-45b8-bff4-1d665e21df9f g.chr19:52519444G>A uc002pyj.2 - 5 1809 c.1407C>T c.(1405-1407)TGC>TGT p.C469C ZNF614_uc002pyi.3_Intron|ZNF614_uc010epj.2_Silent_p.C172C NM_025040 NP_079316 Q8N883 ZN614_HUMAN zinc finger protein 614 469 C2H2-type 9. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(2)|upper_aerodigestive_tract(1)|pancreas(1)|skin(1) 5 all_neural(266;0.0505) GBM - Glioblastoma multiforme(134;0.00513)|OV - Ovarian serous cystadenocarcinoma(262;0.0177) GTTGTATGAGGCATATTTTCT 0.413 NA 4 137 0 0 0 0 LILRB5 10990 broad.mit.edu 37 19 54758764 54758764 + Silent SNP G G A TCGA-CR-6484-01A-11D-1870-08 TCGA-CR-6484-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e72df726-1575-4789-afac-3b15a7643401 b0fa7dd3-58da-45b8-bff4-1d665e21df9f g.chr19:54758764G>A uc002qex.2 - 6 1200 c.1089C>T c.(1087-1089)CCC>CCT p.P363P LILRA6_uc002qew.1_Intron|LILRB5_uc010yer.1_Silent_p.P354P|LILRB5_uc002qey.2_Silent_p.P363P|LILRB5_uc002qez.2_Silent_p.P263P|LILRB5_uc002qfa.1_Silent_p.P253P|LILRB5_uc010yes.1_RNA NM_006840 NP_006831 O75023 LIRB5_HUMAN leukocyte immunoglobulin-like receptor, 363 Ig-like C2-type 4.|Extracellular (Potential). cell surface receptor linked signaling pathway|defense response integral to membrane transmembrane receptor activity ovary(1)|pancreas(1) 2 all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.105) GACACAGCGGGGGATGGGCTG 0.547 NA 5 53 0 0 0 0 TMEM150B 284417 broad.mit.edu 37 19 55824272 55824272 + Silent SNP G G A TCGA-CR-6484-01A-11D-1870-08 TCGA-CR-6484-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e72df726-1575-4789-afac-3b15a7643401 b0fa7dd3-58da-45b8-bff4-1d665e21df9f g.chr19:55824272G>A uc010esw.1 - 8 830 c.657C>T c.(655-657)CTC>CTT p.L219L TMEM150B_uc010yfu.1_Silent_p.L219L|TMEM150B_uc010yfv.1_RNA|TMEM150B_uc010yfw.1_RNA NM_001085488 NP_001078957 A6NC51 T150B_HUMAN transmembrane protein 150B precursor 219 Cytoplasmic (Potential). integral to membrane 0 GCGGGGGGCTGAGGCTGGGCC 0.672 NA 5 9 0 0 0 0 EPN1 29924 broad.mit.edu 37 19 56204355 56204355 + Missense_Mutation SNP G G C TCGA-CR-6484-01A-11D-1870-08 TCGA-CR-6484-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e72df726-1575-4789-afac-3b15a7643401 b0fa7dd3-58da-45b8-bff4-1d665e21df9f g.chr19:56204355G>C uc002qlw.2 + 9 1558 c.1216G>C c.(1216-1218)GAC>CAC p.D406H EPN1_uc002qlv.2_Missense_Mutation_p.D380H|EPN1_uc010etd.2_Missense_Mutation_p.D405H|EPN1_uc002qlx.2_Missense_Mutation_p.D492H NM_001130072 NP_001123544 Q9Y6I3 EPN1_HUMAN epsin 1 isoform b 406 [DE]-X(1,2)-F-X-X-[FL]-X-X-X-R motif.|Ala/Gly/Pro-rich. endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway coated pit|cytoplasm|nucleus|plasma membrane lipid binding 0 Colorectal(82;0.00244)|Ovarian(87;0.133) GBM - Glioblastoma multiforme(193;0.112) CGAGTTCTCTGACTTTGACCG 0.701 NA 19 121 0 0 0 0 NLRP13 126204 broad.mit.edu 37 19 56423845 56423845 + Silent SNP C C T TCGA-CR-6484-01A-11D-1870-08 TCGA-CR-6484-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e72df726-1575-4789-afac-3b15a7643401 b0fa7dd3-58da-45b8-bff4-1d665e21df9f g.chr19:56423845C>T uc010ygg.1 - 5 1363 c.1338G>A c.(1336-1338)CAG>CAA p.Q446Q NM_176810 NP_789780 Q86W25 NAL13_HUMAN NACHT, leucine rich repeat and PYD containing 446 NACHT. ATP binding skin(4)|ovary(3)|pancreas(1)|lung(1) 9 Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218) GBM - Glioblastoma multiforme(193;0.0642) GAGTGATTGACTGGAGATCGT 0.478 NA 13 108 0 0 0 0 PDIA6 10130 broad.mit.edu 37 2 10931955 10931955 + Missense_Mutation SNP C C G TCGA-CR-6484-01A-11D-1870-08 TCGA-CR-6484-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e72df726-1575-4789-afac-3b15a7643401 b0fa7dd3-58da-45b8-bff4-1d665e21df9f g.chr2:10931955C>G uc002rau.2 - 6 688 c.550G>C c.(550-552)GAG>CAG p.E184Q PDIA6_uc010yjg.1_Missense_Mutation_p.E181Q|PDIA6_uc002rav.2_Missense_Mutation_p.E236Q|PDIA6_uc010yjh.1_Missense_Mutation_p.E189Q|PDIA6_uc002raw.2_Missense_Mutation_p.E232Q NM_005742 NP_005733 Q15084 PDIA6_HUMAN protein disulfide isomerase A6 precursor 184 Thioredoxin 2. cell redox homeostasis|glycerol ether metabolic process|protein folding endoplasmic reticulum lumen|ER-Golgi intermediate compartment|melanosome|plasma membrane electron carrier activity|protein binding|protein disulfide isomerase activity|protein disulfide oxidoreductase activity 0 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191) Epithelial(75;0.149)|OV - Ovarian serous cystadenocarcinoma(76;0.15) GCATAGAACTCAACCATCCAA 0.398 NA 8 45 0 0 0 0 ROCK2 9475 broad.mit.edu 37 2 11364578 11364578 + Missense_Mutation SNP G G T TCGA-CR-6484-01A-11D-1870-08 TCGA-CR-6484-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e72df726-1575-4789-afac-3b15a7643401 b0fa7dd3-58da-45b8-bff4-1d665e21df9f g.chr2:11364578G>T uc002rbd.1 - 7 1326 c.877C>A c.(877-879)CCA>ACA p.P293T NM_004850 NP_004841 O75116 ROCK2_HUMAN Rho-associated, coiled-coil containing protein 293 Protein kinase. axon guidance|cytokinesis|intracellular signal transduction cytosol|plasma membrane ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|structural molecule activity stomach(2)|skin(2) 4 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) Epithelial(75;0.137)|OV - Ovarian serous cystadenocarcinoma(76;0.162) GCATAAAATGGAGTATCCCCT 0.318 NA 11 98 3.07e-06 3.32e-06 1 0 ZNF513 130557 broad.mit.edu 37 2 27600989 27600989 + Missense_Mutation SNP C C T TCGA-CR-6484-01A-11D-1870-08 TCGA-CR-6484-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e72df726-1575-4789-afac-3b15a7643401 b0fa7dd3-58da-45b8-bff4-1d665e21df9f g.chr2:27600989C>T uc002rkk.2 - 4 1249 c.1049G>A c.(1048-1050)GGG>GAG p.G350E ZNF513_uc002rkj.2_Missense_Mutation_p.G288E NM_144631 NP_653232 Q8N8E2 ZN513_HUMAN zinc finger protein 513 350 regulation of transcription, DNA-dependent|response to stimulus|retina development in camera-type eye|transcription, DNA-dependent|visual perception nucleus transcription regulatory region DNA binding|zinc ion binding ovary(1) 1 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) CTGGGGCCCCCCACTGGCACC 0.652 NA 10 69 0 0 0 0 IFT172 26160 broad.mit.edu 37 2 27695135 27695135 + Silent SNP G G A TCGA-CR-6484-01A-11D-1870-08 TCGA-CR-6484-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e72df726-1575-4789-afac-3b15a7643401 b0fa7dd3-58da-45b8-bff4-1d665e21df9f g.chr2:27695135G>A uc002rku.2 - 15 1557 c.1506C>T c.(1504-1506)TTC>TTT p.F502F IFT172_uc002rkw.2_Silent_p.F502F|IFT172_uc010yls.1_Silent_p.F481F|IFT172_uc010ezc.2_Silent_p.F502F|IFT172_uc002rkv.2_Silent_p.F476F NM_015662 NP_056477 Q9UG01 IF172_HUMAN selective LIM binding factor homolog 502 WD 8. cilium assembly cilium binding large_intestine(1)|ovary(1) 2 Acute lymphoblastic leukemia(172;0.155) TCCGGTCCCTGAAGAGGAGCT 0.547 NA 14 148 0 0 0 0 GALNT14 79623 broad.mit.edu 37 2 31133797 31133797 + Missense_Mutation SNP C C T TCGA-CR-6484-01A-11D-1870-08 TCGA-CR-6484-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e72df726-1575-4789-afac-3b15a7643401 b0fa7dd3-58da-45b8-bff4-1d665e21df9f g.chr2:31133797C>T uc002rnr.2 - 15 2248 c.1629G>A c.(1627-1629)ATG>ATA p.M543I GALNT14_uc002rnq.2_Missense_Mutation_p.M523I|GALNT14_uc002rns.2_Missense_Mutation_p.M548I|GALNT14_uc010ymr.1_Missense_Mutation_p.M508I NM_024572 NP_078848 Q96FL9 GLT14_HUMAN N-acetylgalactosaminyltransferase 14 543 Lumenal (Potential).|Ricin B-type lectin. Golgi membrane|integral to membrane polypeptide N-acetylgalactosaminyltransferase activity|sugar binding upper_aerodigestive_tract(2)|skin(1) 3 Acute lymphoblastic leukemia(172;0.155) AGTGCTGGCTCATGAGTGAGG 0.567 NA 8 67 0 0 0 0 SPAST 6683 broad.mit.edu 37 2 32289083 32289083 + Silent SNP C C T TCGA-CR-6484-01A-11D-1870-08 TCGA-CR-6484-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e72df726-1575-4789-afac-3b15a7643401 b0fa7dd3-58da-45b8-bff4-1d665e21df9f g.chr2:32289083C>T uc002roc.2 + 1 404 c.183C>T c.(181-183)TTC>TTT p.F61F SPAST_uc002rod.2_Silent_p.F61F NM_014946 NP_055761 Q9UBP0 SPAST_HUMAN spastin isoform 1 61 Required for interaction with SSNA1 and microtubules.|Required for interaction with RTN1.|Nuclear export signal.|Required for interaction with ATL1.|Helical; (Potential).|Required for midbody localization. cell cycle|cell death|cell differentiation|cytokinesis, completion of separation|ER to Golgi vesicle-mediated transport|microtubule bundle formation|microtubule severing|nervous system development|protein hexamerization|protein homooligomerization endoplasmic reticulum|endosome|integral to membrane|microtubule|microtubule organizing center|nucleus|perinuclear region of cytoplasm|spindle alpha-tubulin binding|ATP binding|beta-tubulin binding|microtubule binding|microtubule-severing ATPase activity breast(1) 1 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208) TTGTAGGCTTCGCGCTGCTGC 0.502 NA 4 46 0 0 0 0 ATL2 64225 broad.mit.edu 37 2 38537571 38537571 + Missense_Mutation SNP C C T TCGA-CR-6484-01A-11D-1870-08 TCGA-CR-6484-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e72df726-1575-4789-afac-3b15a7643401 b0fa7dd3-58da-45b8-bff4-1d665e21df9f g.chr2:38537571C>T uc002rqq.2 - 8 853 c.823G>A c.(823-825)GAA>AAA p.E275K ATL2_uc010ynm.1_Missense_Mutation_p.E257K|ATL2_uc010ynn.1_Missense_Mutation_p.E257K|ATL2_uc010yno.1_Missense_Mutation_p.E104K|ATL2_uc002rqs.2_Missense_Mutation_p.E275K|ATL2_uc002rqr.2_Missense_Mutation_p.E104K NM_001135673 NP_001129145 Q8NHH9 ATLA2_HUMAN atlastin GTPase 2 isoform 2 275 Potential.|Cytoplasmic. endoplasmic reticulum organization|Golgi organization|protein homooligomerization endoplasmic reticulum membrane|integral to membrane GTP binding|GTPase activity|identical protein binding ovary(1)|kidney(1)|skin(1) 3 TGAAGCTCTTCATGTTGATTT 0.378 NA 10 57 0 0 0 0 PLEKHH2 130271 broad.mit.edu 37 2 43986079 43986079 + Missense_Mutation SNP C C T TCGA-CR-6484-01A-11D-1870-08 TCGA-CR-6484-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e72df726-1575-4789-afac-3b15a7643401 b0fa7dd3-58da-45b8-bff4-1d665e21df9f g.chr2:43986079C>T uc010yny.1 + 27 4065 c.3982C>T c.(3982-3984)CGG>TGG p.R1328W NM_172069 NP_742066 Q8IVE3 PKHH2_HUMAN pleckstrin homology domain containing, family H 1328 FERM. cytoplasm|cytoskeleton|integral to membrane binding skin(2)|central_nervous_system(1) 3 all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17) GATGGCCCTCCGGGGACACAG 0.373 NA 3 29 0 0 0 0 MDH1 4190 broad.mit.edu 37 2 63831977 63831977 + Missense_Mutation SNP G G A TCGA-CR-6484-01A-11D-1870-08 TCGA-CR-6484-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e72df726-1575-4789-afac-3b15a7643401 b0fa7dd3-58da-45b8-bff4-1d665e21df9f g.chr2:63831977G>A uc002scj.1 + 6 702 c.646G>A c.(646-648)GAC>AAC p.D216N MDH1_uc010ypv.1_Missense_Mutation_p.D234N|MDH1_uc010ypw.1_Missense_Mutation_p.D121N NM_005917 NP_005908 P40925 MDHC_HUMAN cytosolic malate dehydrogenase 216 gluconeogenesis|tricarboxylic acid cycle centrosome|cytosol L-malate dehydrogenase activity|malic enzyme activity kidney(2) 2 NADH(DB00157) TCTGAAAGATGACAGCTGGCT 0.433 NA 8 46 0 0 0 0 ATP6V1B1 525 broad.mit.edu 37 2 71189955 71189955 + Silent SNP C C T TCGA-CR-6484-01A-11D-1870-08 TCGA-CR-6484-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e72df726-1575-4789-afac-3b15a7643401 b0fa7dd3-58da-45b8-bff4-1d665e21df9f g.chr2:71189955C>T uc002shj.2 + 9 921 c.834C>T c.(832-834)TTC>TTT p.F278F ATP6V1B1_uc010fdv.2_Silent_p.F278F|ATP6V1B1_uc010fdw.2_RNA|ATP6V1B1_uc010fdx.2_Silent_p.F236F NM_001692 NP_001683 P15313 VATB1_HUMAN ATPase, H+ transporting, lysosomal 56/58kDa, V1 278 ATP hydrolysis coupled proton transport|calcium ion homeostasis|cellular iron ion homeostasis|excretion|inner ear morphogenesis|insulin receptor signaling pathway|ossification|pH reduction|sensory perception of sound|transferrin transport apical plasma membrane|basolateral plasma membrane|cytosol|endomembrane system|lateral plasma membrane|microvillus|proton-transporting V-type ATPase, V1 domain|vacuolar proton-transporting V-type ATPase complex ATP binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism skin(1) 1 CTGCTGAATTCCTTGCCTACC 0.582 NA 11 69 0 0 0 0 TBC1D8 11138 broad.mit.edu 37 2 101655014 101655014 + Missense_Mutation SNP C C T TCGA-CR-6484-01A-11D-1870-08 TCGA-CR-6484-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e72df726-1575-4789-afac-3b15a7643401 b0fa7dd3-58da-45b8-bff4-1d665e21df9f g.chr2:101655014C>T uc010fiv.2 - 7 1270 c.1139G>A c.(1138-1140)CGA>CAA p.R380Q TBC1D8_uc010yvw.1_Missense_Mutation_p.R395Q|TBC1D8_uc002tau.3_Missense_Mutation_p.R137Q NM_001102426 NP_001095896 O95759 TBCD8_HUMAN TBC1 domain family, member 8 380 blood circulation|positive regulation of cell proliferation intracellular|membrane calcium ion binding|Rab GTPase activator activity ovary(3) 3 CAGGCTGTCTCGGTCCCGGAG 0.587 NA 20 135 0 0 0 0 C2orf29 55571 broad.mit.edu 37 2 101874329 101874329 + Missense_Mutation SNP C C G TCGA-CR-6484-01A-11D-1870-08 TCGA-CR-6484-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e72df726-1575-4789-afac-3b15a7643401 b0fa7dd3-58da-45b8-bff4-1d665e21df9f g.chr2:101874329C>G uc002taw.3 + 2 673 c.591C>G c.(589-591)TTC>TTG p.F197L NM_017546 NP_060016 Q9UKZ1 CB029_HUMAN hypothetical protein LOC55571 197 cell proliferation|nuclear-transcribed mRNA poly(A) tail shortening cytosol ovary(2)|pancreas(1)|central_nervous_system(1)|skin(1) 5 GGGAACTCTTCAAAAAGACGC 0.473 NA 11 92 0 0 0 0 SLC5A7 60482 broad.mit.edu 37 2 108626898 108626898 + Missense_Mutation SNP G G T TCGA-CR-6484-01A-11D-1870-08 TCGA-CR-6484-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e72df726-1575-4789-afac-3b15a7643401 b0fa7dd3-58da-45b8-bff4-1d665e21df9f g.chr2:108626898G>T uc002tdv.2 + 9 1600 c.1324G>T c.(1324-1326)GGC>TGC p.G442C SLC5A7_uc010ywm.1_Missense_Mutation_p.G195C|SLC5A7_uc010fjj.2_Missense_Mutation_p.G442C|SLC5A7_uc010ywn.1_Missense_Mutation_p.G329C NM_021815 NP_068587 Q9GZV3 SC5A7_HUMAN solute carrier family 5 (choline transporter), 442 Helical; (Potential). acetylcholine biosynthetic process|neurotransmitter secretion integral to membrane|plasma membrane choline:sodium symporter activity ovary(2)|central_nervous_system(1)|skin(1) 4 Choline(DB00122) TTATGTTTCTGGCCTCTTCCT 0.453 NA 8 67 0.00307968 0.00320342 1 0 ZC3H8 84524 broad.mit.edu 37 2 112994207 112994207 + Nonsense_Mutation SNP G G A TCGA-CR-6484-01A-11D-1870-08 TCGA-CR-6484-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e72df726-1575-4789-afac-3b15a7643401 b0fa7dd3-58da-45b8-bff4-1d665e21df9f g.chr2:112994207G>A uc002thp.2 - 4 542 c.436C>T c.(436-438)CGA>TGA p.R146* NM_032494 NP_115883 Q8N5P1 ZC3H8_HUMAN zinc finger CCCH-type containing 8 146 apoptosis|negative regulation of T cell differentiation in thymus|negative regulation of transcription, DNA-dependent|positive regulation of thymocyte apoptosis|response to antibiotic|T cell homeostasis nucleus RNA binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding 0 GGCCATTTTCGCTTCATTTTC 0.353 NA 11 66 0 0 0 0 PSD4 23550 broad.mit.edu 37 2 113950670 113950670 + Missense_Mutation SNP C C G TCGA-CR-6484-01A-11D-1870-08 TCGA-CR-6484-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e72df726-1575-4789-afac-3b15a7643401 b0fa7dd3-58da-45b8-bff4-1d665e21df9f g.chr2:113950670C>G uc002tjc.2 + 7 2067 c.1884C>G c.(1882-1884)TTC>TTG p.F628L PSD4_uc002tjd.2_Missense_Mutation_p.F249L|PSD4_uc002tje.2_Missense_Mutation_p.F599L|PSD4_uc002tjf.2_Missense_Mutation_p.F249L NM_012455 NP_036587 Q8NDX1 PSD4_HUMAN pleckstrin and Sec7 domain containing 4 628 SEC7. regulation of ARF protein signal transduction cytoplasm|plasma membrane ARF guanyl-nucleotide exchange factor activity ovary(2) 2 TGTCCTTCTTCCAGTTTGGAG 0.622 NA 4 68 0 0 0 0 R3HDM1 23518 broad.mit.edu 37 2 136389447 136389447 + Missense_Mutation SNP T T A TCGA-CR-6484-01A-11D-1870-08 TCGA-CR-6484-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e72df726-1575-4789-afac-3b15a7643401 b0fa7dd3-58da-45b8-bff4-1d665e21df9f g.chr2:136389447T>A uc002tuo.2 + 9 944 c.574T>A c.(574-576)TTC>ATC p.F192I R3HDM1_uc010fni.2_Missense_Mutation_p.F190I|R3HDM1_uc002tup.2_Missense_Mutation_p.F136I|R3HDM1_uc010zbh.1_Missense_Mutation_p.F24I NM_015361 NP_056176 Q15032 R3HD1_HUMAN R3H domain containing 1 192 R3H. nucleic acid binding skin(1) 1 BRCA - Breast invasive adenocarcinoma(221;0.127) ACGTAAAAAATTCCCCCCAAT 0.398 NA 21 98 0 0 0 0 BAZ2B 29994 broad.mit.edu 37 2 160194206 160194207 + Missense_Mutation DNP GC GC AA TCGA-CR-6484-01A-11D-1870-08 TCGA-CR-6484-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e72df726-1575-4789-afac-3b15a7643401 b0fa7dd3-58da-45b8-bff4-1d665e21df9f g.chr2:160194206_160194207GC>AA uc002uao.2 - 32 5883_5884 c.5531_5532GC>TT c.(5530-5532)TGC>TTT p.C1844F BAZ2B_uc002uap.2_Missense_Mutation_p.C1808F NM_013450 NP_038478 Q9UIF8 BAZ2B_HUMAN bromodomain adjacent to zinc finger domain, 2B 1844 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding ovary(3)|skin(1) 4 CATGCTCCTTGCACAATTTAGT 0.426 NA 14 80 0 0 0 0 IFIH1 64135 broad.mit.edu 37 2 163163360 163163360 + Missense_Mutation SNP C C G TCGA-CR-6484-01A-11D-1870-08 TCGA-CR-6484-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e72df726-1575-4789-afac-3b15a7643401 b0fa7dd3-58da-45b8-bff4-1d665e21df9f g.chr2:163163360C>G uc002uce.2 - 3 850 c.628G>C c.(628-630)GAG>CAG p.E210Q NM_022168 NP_071451 Q9BYX4 IFIH1_HUMAN interferon induced with helicase C domain 1 210 detection of virus|innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|regulation of apoptosis cytosol|nucleus ATP binding|DNA binding|double-stranded RNA binding|helicase activity|protein binding|ribonucleoprotein binding|zinc ion binding ovary(1) 1 GATAAATTCTCAATCTCTGTG 0.368 NA 3 38 0 0 0 0 TTN 7273 broad.mit.edu 37 2 179417226 179417226 + Nonsense_Mutation SNP G G C TCGA-CR-6484-01A-11D-1870-08 TCGA-CR-6484-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e72df726-1575-4789-afac-3b15a7643401 b0fa7dd3-58da-45b8-bff4-1d665e21df9f g.chr2:179417226G>C uc010zfg.1 - 284 82921 c.82697C>G c.(82696-82698)TCA>TGA p.S27566* uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Nonsense_Mutation_p.S21261*|TTN_uc010zfi.1_Nonsense_Mutation_p.S21194*|TTN_uc010zfj.1_Nonsense_Mutation_p.S21069* NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 28493 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) AGGGATATCTGACAGGTCAAC 0.423 NA 6 35 0 0 0 0 MYO1B 4430 broad.mit.edu 37 2 192225422 192225422 + Nonsense_Mutation SNP C C T TCGA-CR-6484-01A-11D-1870-08 TCGA-CR-6484-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e72df726-1575-4789-afac-3b15a7643401 b0fa7dd3-58da-45b8-bff4-1d665e21df9f g.chr2:192225422C>T uc010fsg.2 + 8 883 c.628C>T c.(628-630)CAG>TAG p.Q210* MYO1B_uc002usq.2_Nonsense_Mutation_p.Q210*|MYO1B_uc002usr.2_Nonsense_Mutation_p.Q210*|MYO1B_uc002uss.1_Nonsense_Mutation_p.Q210* NM_001130158 NP_001123630 O43795 MYO1B_HUMAN myosin IB isoform 1 210 Myosin head-like. myosin complex actin binding|ATP binding|calmodulin binding|motor activity central_nervous_system(5)|large_intestine(2)|ovary(1) 8 OV - Ovarian serous cystadenocarcinoma(117;0.0112)|Epithelial(96;0.104)|all cancers(119;0.236) TGTGTTCTATCAGCTGCTCTC 0.338 NA 20 140 0 0 0 0 PAX3 5077 broad.mit.edu 37 2 223066840 223066840 + Missense_Mutation SNP G G C TCGA-CR-6484-01A-11D-1870-08 TCGA-CR-6484-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e72df726-1575-4789-afac-3b15a7643401 b0fa7dd3-58da-45b8-bff4-1d665e21df9f g.chr2:223066840G>C uc010fwo.2 - 8 1609 c.1243C>G c.(1243-1245)CTC>GTC p.L415V PAX3_uc002vmt.1_Missense_Mutation_p.L415V|PAX3_uc002vmy.1_Missense_Mutation_p.L414V|PAX3_uc002vmv.1_Missense_Mutation_p.L415V|PAX3_uc002vmw.1_Intron|PAX3_uc002vmx.1_Intron NM_181457 NP_852122 P23760 PAX3_HUMAN paired box 3 isoform PAX3 415 apoptosis|organ morphogenesis|positive regulation of transcription from RNA polymerase II promoter|sensory perception of sound|transcription from RNA polymerase II promoter nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity PAX3/FOXO1(749)|PAX3/NCOA1(8)|PAX3/NCOA2(4) soft_tissue(761)|ovary(4)|skin(1) 766 Renal(207;0.0183) Epithelial(121;4.13e-10)|all cancers(144;1.85e-07)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) CCCCCGGTGAGAGGGGAGAGC 0.547 NA T FOXO1A|NCOA1 alveolar rhabdomyosarcoma Waardenburg syndrome; craniofacial-deafness-hand syndrome 5 21 0 0 0 0 WDFY1 57590 broad.mit.edu 37 2 224809972 224809972 + Missense_Mutation SNP C C G TCGA-CR-6484-01A-11D-1870-08 TCGA-CR-6484-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e72df726-1575-4789-afac-3b15a7643401 b0fa7dd3-58da-45b8-bff4-1d665e21df9f g.chr2:224809972C>G uc002vnq.2 - 1 81 c.30G>C c.(28-30)CAG>CAC p.Q10H NM_020830 NP_065881 Q8IWB7 WDFY1_HUMAN WD repeat and FYVE domain containing 1 10 cytosol|early endosome|nucleus 1-phosphatidylinositol binding|zinc ion binding lung(1) 1 all_lung(227;0.00682)|Lung NSC(271;0.00859)|Renal(207;0.0112)|all_hematologic(139;0.189) Epithelial(121;5.34e-10)|all cancers(144;1.67e-07)|Lung(261;0.00807)|LUSC - Lung squamous cell carcinoma(224;0.00843) GGCGGCTGCTCTGCGGCCTGG 0.726 NA 4 27 0 0 0 0 ARMC9 80210 broad.mit.edu 37 2 232146798 232146798 + Silent SNP G G A TCGA-CR-6484-01A-11D-1870-08 TCGA-CR-6484-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e72df726-1575-4789-afac-3b15a7643401 b0fa7dd3-58da-45b8-bff4-1d665e21df9f g.chr2:232146798G>A uc002vrq.3 + 17 1690 c.1578G>A c.(1576-1578)CTG>CTA p.L526L ARMC9_uc002vrp.3_Silent_p.L526L|ARMC9_uc002vrr.1_RNA NM_025139 NP_079415 Q7Z3E5 ARMC9_HUMAN armadillo repeat containing 9 526 binding ovary(1) 1 Renal(207;0.0112)|all_lung(227;0.0744)|all_hematologic(139;0.0749)|Acute lymphoblastic leukemia(138;0.167)|Medulloblastoma(418;0.184)|Lung NSC(271;0.205) Epithelial(121;1.43e-10)|LUSC - Lung squamous cell carcinoma(224;0.017)|Lung(119;0.0189) ATGGAGCTCTGTACAGCATCC 0.428 NA 16 143 0 0 0 0 PTPRA 5786 broad.mit.edu 37 20 3007774 3007774 + Missense_Mutation SNP C C G TCGA-CR-6484-01A-11D-1870-08 TCGA-CR-6484-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e72df726-1575-4789-afac-3b15a7643401 b0fa7dd3-58da-45b8-bff4-1d665e21df9f g.chr20:3007774C>G uc010zqd.1 + 18 2066 c.1749C>G c.(1747-1749)TTC>TTG p.F583L PTPRA_uc002whj.2_Missense_Mutation_p.F572L|PTPRA_uc002whk.2_Missense_Mutation_p.F563L|PTPRA_uc002whl.2_Missense_Mutation_p.F563L|PTPRA_uc002whm.2_Missense_Mutation_p.F339L|PTPRA_uc002whn.2_Missense_Mutation_p.F563L|PTPRA_uc002who.2_Missense_Mutation_p.F235L NM_002836 NP_002827 P18433 PTPRA_HUMAN protein tyrosine phosphatase, receptor type, A 572 Cytoplasmic (Potential).|Tyrosine-protein phosphatase 2. axon guidance|protein phosphorylation integral to plasma membrane transmembrane receptor protein tyrosine phosphatase activity upper_aerodigestive_tract(1) 1 CAGATGAATTCAACAGAGTGA 0.493 NA 9 107 0 0 0 0 RNF24 11237 broad.mit.edu 37 20 3944599 3944599 + Silent SNP G G A TCGA-CR-6484-01A-11D-1870-08 TCGA-CR-6484-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e72df726-1575-4789-afac-3b15a7643401 b0fa7dd3-58da-45b8-bff4-1d665e21df9f g.chr20:3944599G>A uc002wkh.2 - 2 336 c.66C>T c.(64-66)CTC>CTT p.L22L RNF24_uc002wki.2_Silent_p.L43L|RNF24_uc002wkj.2_Silent_p.L22L NM_007219 NP_009150 Q9Y225 RNF24_HUMAN ring finger protein 24 isoform 1 22 Golgi membrane|integral to membrane zinc ion binding 0 TATATATGTTGAGAGGCAGAT 0.363 NA 7 62 0 0 0 0 RRBP1 6238 broad.mit.edu 37 20 17623689 17623689 + Missense_Mutation SNP C C T TCGA-CR-6484-01A-11D-1870-08 TCGA-CR-6484-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e72df726-1575-4789-afac-3b15a7643401 b0fa7dd3-58da-45b8-bff4-1d665e21df9f g.chr20:17623689C>T uc002wpv.1 - 5 1051 c.697G>A c.(697-699)GAG>AAG p.E233K RRBP1_uc002wpu.2_Missense_Mutation_p.E7K|RRBP1_uc002wpw.1_Missense_Mutation_p.E233K|RRBP1_uc010gcl.1_Missense_Mutation_p.E7K NM_001042576 NP_001036041 Q9P2E9 RRBP1_HUMAN ribosome binding protein 1 666 Cytoplasmic (Potential). protein transport|translation|transmembrane transport integral to endoplasmic reticulum membrane|ribosome receptor activity ovary(1) 1 CGCTGGGCCTCGCCCTCGTTG 0.637 NA 8 44 0 0 0 0 RIN2 54453 broad.mit.edu 37 20 19981362 19981362 + Missense_Mutation SNP G G C TCGA-CR-6484-01A-11D-1870-08 TCGA-CR-6484-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e72df726-1575-4789-afac-3b15a7643401 b0fa7dd3-58da-45b8-bff4-1d665e21df9f g.chr20:19981362G>C uc002wro.1 + 11 2506 c.2470G>C c.(2470-2472)GAG>CAG p.E824Q RIN2_uc010gcu.1_Missense_Mutation_p.E391Q|RIN2_uc010gcv.1_Missense_Mutation_p.E618Q NM_018993 NP_061866 Q8WYP3 RIN2_HUMAN Ras and Rab interactor 2 824 Ras-associating. endocytosis|small GTPase mediated signal transduction cytoplasm GTPase activator activity|Rab guanyl-nucleotide exchange factor activity lung(4)|ovary(1) 5 GATCTGCGCTGAGAAGTTCAA 0.517 NA 13 118 0 0 0 0 CST9L 128821 broad.mit.edu 37 20 23546668 23546668 + Silent SNP C C G TCGA-CR-6484-01A-11D-1870-08 TCGA-CR-6484-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e72df726-1575-4789-afac-3b15a7643401 b0fa7dd3-58da-45b8-bff4-1d665e21df9f g.chr20:23546668C>G uc002wtk.3 - 2 596 c.297G>C c.(295-297)GGG>GGC p.G99G NM_080610 NP_542177 Q9H4G1 CST9L_HUMAN cystatin 9-like precursor 99 extracellular region cysteine-type endopeptidase inhibitor activity 0 Colorectal(13;0.0431)|Lung NSC(19;0.235) CTTCAAATTTCCCACACCTAG 0.468 NA 22 205 0 0 0 0 CSE1L 1434 broad.mit.edu 37 20 47691914 47691914 + Missense_Mutation SNP G G C TCGA-CR-6484-01A-11D-1870-08 TCGA-CR-6484-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e72df726-1575-4789-afac-3b15a7643401 b0fa7dd3-58da-45b8-bff4-1d665e21df9f g.chr20:47691914G>C uc002xty.2 + 12 1326 c.1192G>C c.(1192-1194)GAG>CAG p.E398Q CSE1L_uc010zyg.1_Missense_Mutation_p.E181Q|CSE1L_uc010ghx.2_Missense_Mutation_p.E342Q|CSE1L_uc010ghy.2_Missense_Mutation_p.E47Q|CSE1L_uc010zyh.1_Missense_Mutation_p.E47Q NM_001316 NP_001307 P55060 XPO2_HUMAN CSE1 chromosome segregation 1-like protein 398 apoptosis|cell proliferation|intracellular protein transport cytoplasm|nucleus importin-alpha export receptor activity large_intestine(1)|skin(1) 2 BRCA - Breast invasive adenocarcinoma(12;0.000491)|Colorectal(8;0.198) CAAGTTTTTTGAGGGACCTGT 0.383 NA 7 97 0 0 0 0 SRMS 6725 broad.mit.edu 37 20 62172623 62172623 + Silent SNP G G C TCGA-CR-6484-01A-11D-1870-08 TCGA-CR-6484-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e72df726-1575-4789-afac-3b15a7643401 b0fa7dd3-58da-45b8-bff4-1d665e21df9f g.chr20:62172623G>C uc002yfi.1 - 7 1247 c.1206C>G c.(1204-1206)GTC>GTG p.V402V NM_080823 NP_543013 Q9H3Y6 SRMS_HUMAN src-related kinase lacking C-terminal regulatory 402 Protein kinase. ATP binding|non-membrane spanning protein tyrosine kinase activity stomach(1)|lung(1) 2 all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13) Epithelial(9;9.69e-09)|all cancers(9;5.84e-08)|BRCA - Breast invasive adenocarcinoma(10;3.63e-06) TCTGGGAGAAGACACGATAAT 0.617 NA 18 160 0 0 0 0 RGS19 10287 broad.mit.edu 37 20 62705602 62705602 + Missense_Mutation SNP G G C TCGA-CR-6484-01A-11D-1870-08 TCGA-CR-6484-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e72df726-1575-4789-afac-3b15a7643401 b0fa7dd3-58da-45b8-bff4-1d665e21df9f g.chr20:62705602G>C uc002yhy.2 - 5 624 c.357C>G c.(355-357)TTC>TTG p.F119L RGS19_uc002yhz.2_Missense_Mutation_p.F97L|RGS19_uc002yia.2_Missense_Mutation_p.F119L|RGS19_uc002yib.2_Missense_Mutation_p.F119L NM_005873 NP_005864 P49795 RGS19_HUMAN G protein signalling regulator 19 119 RGS. autophagy|G-protein coupled receptor protein signaling pathway|negative regulation of signal transduction|small GTPase mediated signal transduction Golgi apparatus|membrane fraction|plasma membrane GTPase activator activity|protein binding|signal transducer activity skin(1) 1 all_cancers(38;3.45e-11)|all_epithelial(29;9.12e-13)|Lung NSC(23;2e-09)|all_lung(23;6.77e-09) AGGCCAACCAGAAGAGCATGT 0.607 NA 4 29 0 0 0 0 RNF160 26046 broad.mit.edu 37 21 30318479 30318479 + Silent SNP G G A TCGA-CR-6484-01A-11D-1870-08 TCGA-CR-6484-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e72df726-1575-4789-afac-3b15a7643401 b0fa7dd3-58da-45b8-bff4-1d665e21df9f g.chr21:30318479G>A uc002ymr.2 - 20 3769 c.3756C>T c.(3754-3756)TTC>TTT p.F1252F NM_015565 NP_056380 O94822 LTN1_HUMAN zinc finger protein 294 1206 ligase activity|zinc ion binding 0 CCTACCAACTGAAAAGAAAAA 0.308 NA 8 106 0 0 0 0 HIRA 7290 broad.mit.edu 37 22 19384358 19384358 + Silent SNP C C T TCGA-CR-6484-01A-11D-1870-08 TCGA-CR-6484-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e72df726-1575-4789-afac-3b15a7643401 b0fa7dd3-58da-45b8-bff4-1d665e21df9f g.chr22:19384358C>T uc002zpf.1 - 7 826 c.606G>A c.(604-606)AGG>AGA p.R202R HIRA_uc011agx.1_Silent_p.R68R|HIRA_uc010grn.1_Silent_p.R202R|HIRA_uc010gro.1_Silent_p.R158R|HIRA_uc010grp.2_RNA NM_003325 NP_003316 P54198 HIRA_HUMAN HIR histone cell cycle regulation defective 202 WD 4. chromatin modification|regulation of transcription from RNA polymerase II promoter PML body chromatin binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity ovary(1) 1 Colorectal(54;0.0993) AGTCCAGCGTCCTCCACACCT 0.557 NA 8 79 0 0 0 0 DGCR8 54487 broad.mit.edu 37 22 20094865 20094865 + Missense_Mutation SNP A A G TCGA-CR-6484-01A-11D-1870-08 TCGA-CR-6484-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e72df726-1575-4789-afac-3b15a7643401 b0fa7dd3-58da-45b8-bff4-1d665e21df9f g.chr22:20094865A>G uc002zri.2 + 12 2418 c.2068A>G c.(2068-2070)AAC>GAC p.N690D DGCR8_uc010grz.2_Missense_Mutation_p.N657D|DGCR8_uc002zrj.2_Missense_Mutation_p.N333D NM_022720 NP_073557 Q8WYQ5 DGCR8_HUMAN DiGeorge syndrome critical region gene 8 690 Necessary for heme-binding and pri-miRNA processing.|Necessary for interaction with DROSHA. primary miRNA processing cytoplasm|cytoplasm|microtubule cytoskeleton|nucleolus|nucleoplasm double-stranded RNA binding|metal ion binding|protein binding 0 Colorectal(54;0.0993) ACATGTCAAGAACTGGGGGTC 0.537 NA 6 108 0 0 0 0 ZNF74 7625 broad.mit.edu 37 22 20755021 20755021 + Missense_Mutation SNP G G C TCGA-CR-6484-01A-11D-1870-08 TCGA-CR-6484-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e72df726-1575-4789-afac-3b15a7643401 b0fa7dd3-58da-45b8-bff4-1d665e21df9f g.chr22:20755021G>C uc010gsm.2 + 4 432 c.220G>C c.(220-222)GAG>CAG p.E74Q ZNF74_uc002zsg.2_Missense_Mutation_p.E3Q|ZNF74_uc002zsh.2_Missense_Mutation_p.E74Q|ZNF74_uc002zsi.2_Missense_Mutation_p.E3Q|ZNF74_uc010gsn.2_Missense_Mutation_p.E3Q NM_003426 NP_003417 Q16587 ZNF74_HUMAN zinc finger protein 74 74 KRAB. multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent actin cytoskeleton|nucleus DNA binding|RNA binding|zinc ion binding ovary(1) 1 Melanoma(16;0.000465)|Ovarian(15;0.0025)|Colorectal(54;0.0221)|all_neural(72;0.219) Lung SC(17;0.0262)|all_lung(157;0.248) LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173) TGTGATGTTGGAGAACTACCA 0.542 NA 9 134 0 0 0 0 PITPNB 23760 broad.mit.edu 37 22 28293876 28293876 + Missense_Mutation SNP C C G TCGA-CR-6484-01A-11D-1870-08 TCGA-CR-6484-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e72df726-1575-4789-afac-3b15a7643401 b0fa7dd3-58da-45b8-bff4-1d665e21df9f g.chr22:28293876C>G uc003adk.2 - 4 278 c.202G>C c.(202-204)GTG>CTG p.V68L PITPNB_uc011akh.1_Missense_Mutation_p.V70L|PITPNB_uc003adl.2_Missense_Mutation_p.V68L NM_012399 NP_036531 P48739 PIPNB_HUMAN phosphatidylinositol transfer protein, beta 68 lipid metabolic process|transport Golgi apparatus lipid binding skin(1) 1 AATGCAGGCACTTTGCTGGGA 0.458 NA 11 97 0 0 0 0 NF2 4771 broad.mit.edu 37 22 30038255 30038255 + Missense_Mutation SNP C C T TCGA-CR-6484-01A-11D-1870-08 TCGA-CR-6484-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e72df726-1575-4789-afac-3b15a7643401 b0fa7dd3-58da-45b8-bff4-1d665e21df9f g.chr22:30038255C>T uc003age.3 + 4 871 c.428C>T c.(427-429)TCT>TTT p.S143F NF2_uc003afy.3_Missense_Mutation_p.S143F|NF2_uc003afz.3_Missense_Mutation_p.S60F|NF2_uc003agf.3_Missense_Mutation_p.S143F|NF2_uc003agb.3_Missense_Mutation_p.S66F|NF2_uc003agc.3_Missense_Mutation_p.S105F|NF2_uc003agd.3_RNA|NF2_uc003agg.3_Missense_Mutation_p.S143F|NF2_uc003aga.3_Missense_Mutation_p.S101F|NF2_uc003agh.3_Missense_Mutation_p.S102F|NF2_uc003agi.3_Missense_Mutation_p.S60F|NF2_uc003agj.3_Missense_Mutation_p.S143F|NF2_uc003agk.3_Missense_Mutation_p.S105F NM_000268 NP_000259 P35240 MERL_HUMAN neurofibromin 2 isoform 1 143 FERM. actin cytoskeleton organization|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of cell-cell adhesion|negative regulation of cell-matrix adhesion|negative regulation of DNA replication|negative regulation of tyrosine phosphorylation of Stat3 protein|negative regulation of tyrosine phosphorylation of Stat5 protein|positive regulation of stress fiber assembly|regulation of hippo signaling cascade|Schwann cell proliferation cytoskeleton|early endosome|extrinsic to membrane|filopodium membrane|nucleolus|perinuclear region of cytoplasm|ruffle membrane cytoskeletal protein binding|protein binding p.V122_K149del(5)|p.Y144fs*5(1)|p.K123fs*2(1)|p.L127_D382del(1)|p.L140_P252del(1)|p.A142fs*8(1) meninges(372)|soft_tissue(284)|central_nervous_system(20)|kidney(10)|pleura(9)|skin(7)|large_intestine(5)|breast(5)|urinary_tract(3)|thyroid(2)|endometrium(2)|ovary(2)|lung(2)|stomach(2)|bone(2)|pituitary(1) 728 CTCCTGGCTTCTTACGCCGTC 0.458 NA D|Mis|N|F|S|O meningioma|acoustic neuroma|renal meningioma|acoustic neuroma Neurofibromatosis_type_2 12 97 0 0 0 0 SEC14L4 284904 broad.mit.edu 37 22 30891384 30891384 + Missense_Mutation SNP C C T TCGA-CR-6484-01A-11D-1870-08 TCGA-CR-6484-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e72df726-1575-4789-afac-3b15a7643401 b0fa7dd3-58da-45b8-bff4-1d665e21df9f g.chr22:30891384C>T uc003aid.2 - 5 380 c.280G>A c.(280-282)GAA>AAA p.E94K SEC14L4_uc011akz.1_Missense_Mutation_p.E94K|SEC14L4_uc003aie.2_Missense_Mutation_p.E79K|SEC14L4_uc003aif.2_Missense_Mutation_p.E40K NM_174977 NP_777637 Q9UDX3 S14L4_HUMAN SEC14p-like protein TAP3 isoform a 94 CRAL-TRIO. integral to membrane|intracellular lipid binding|transporter activity skin(1) 1 Vitamin E(DB00163) GGGCAGCCTTCGTAGTCGTAG 0.562 NA 7 42 0 0 0 0 SFI1 9814 broad.mit.edu 37 22 31927062 31927062 + Missense_Mutation SNP C C G TCGA-CR-6484-01A-11D-1870-08 TCGA-CR-6484-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e72df726-1575-4789-afac-3b15a7643401 b0fa7dd3-58da-45b8-bff4-1d665e21df9f g.chr22:31927062C>G uc003ale.2 + 4 678 c.285C>G c.(283-285)TTC>TTG p.F95L SFI1_uc003ald.1_Intron|SFI1_uc003alf.2_Missense_Mutation_p.F95L|SFI1_uc003alg.2_Intron|SFI1_uc011alp.1_Intron|SFI1_uc011alq.1_Intron|SFI1_uc003alh.2_Intron NM_001007467 NP_001007468 A8K8P3 SFI1_HUMAN spindle assembly associated Sfi1 homolog isoform 95 G2/M transition of mitotic cell cycle centriole|cytosol central_nervous_system(1) 1 CCAGAAAGTTCTTATATTTAT 0.358 NA 5 85 0 0 0 0 CNTN4 152330 broad.mit.edu 37 3 2908579 2908579 + Missense_Mutation SNP G G A TCGA-CR-6484-01A-11D-1870-08 TCGA-CR-6484-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e72df726-1575-4789-afac-3b15a7643401 b0fa7dd3-58da-45b8-bff4-1d665e21df9f g.chr3:2908579G>A uc003bpc.2 + 7 819 c.598G>A c.(598-600)GTG>ATG p.V200M CNTN4_uc003bpb.1_Translation_Start_Site|CNTN4_uc003bpd.1_Missense_Mutation_p.V200M NM_175607 NP_783200 Q8IWV2 CNTN4_HUMAN contactin 4 isoform a precursor 200 Ig-like C2-type 2. axon guidance|axonal fasciculation|brain development|negative regulation of neuron differentiation|neuron cell-cell adhesion|regulation of synaptic plasticity anchored to membrane|axon|extracellular region|plasma membrane protein binding large_intestine(2)|ovary(2)|lung(1)|central_nervous_system(1)|pancreas(1) 7 Ovarian(110;0.156) Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01) TACCAATACCGTGACAAACCA 0.398 NA 8 54 0 0 0 0 WDR48 57599 broad.mit.edu 37 3 39104562 39104562 + Missense_Mutation SNP G G C TCGA-CR-6484-01A-11D-1870-08 TCGA-CR-6484-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e72df726-1575-4789-afac-3b15a7643401 b0fa7dd3-58da-45b8-bff4-1d665e21df9f g.chr3:39104562G>C uc003cit.2 + 2 80 c.70G>C c.(70-72)GAA>CAA p.E24Q WDR48_uc011ayt.1_Missense_Mutation_p.E24Q|WDR48_uc011ayu.1_5'UTR|WDR48_uc011ayv.1_Intron|WDR48_uc003ciu.2_RNA NM_020839 NP_065890 Q8TAF3 WDR48_HUMAN WD repeat domain 48 24 interspecies interaction between organisms|protein deubiquitination lysosome|nucleus protein binding ovary(1)|breast(1) 2 KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738) TATTCGAGATGAAGTGGAGAA 0.388 NA 9 74 0 0 0 0 CCDC36 339834 broad.mit.edu 37 3 49293924 49293924 + Missense_Mutation SNP G G C TCGA-CR-6484-01A-11D-1870-08 TCGA-CR-6484-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e72df726-1575-4789-afac-3b15a7643401 b0fa7dd3-58da-45b8-bff4-1d665e21df9f g.chr3:49293924G>C uc003cwk.2 + 10 1381 c.994G>C c.(994-996)GAA>CAA p.E332Q CCDC36_uc011bck.1_Missense_Mutation_p.E332Q NM_178173 NP_835467 Q8IYA8 CCD36_HUMAN coiled-coil domain containing 36 332 ovary(1)|kidney(1) 2 BRCA - Breast invasive adenocarcinoma(193;9.11e-05)|Kidney(197;0.00248)|KIRC - Kidney renal clear cell carcinoma(197;0.00262) TGATCTCCAAGAAGAGGCTGC 0.512 NA 19 82 0 0 0 0 QTRTD1 79691 broad.mit.edu 37 3 113798799 113798799 + Missense_Mutation SNP G G C TCGA-CR-6484-01A-11D-1870-08 TCGA-CR-6484-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e72df726-1575-4789-afac-3b15a7643401 b0fa7dd3-58da-45b8-bff4-1d665e21df9f g.chr3:113798799G>C uc003eay.2 + 8 1023 c.793G>C c.(793-795)GAA>CAA p.E265Q QTRTD1_uc003eaz.2_Missense_Mutation_p.E277Q|QTRTD1_uc011biq.1_Missense_Mutation_p.E142Q|QTRTD1_uc011bir.1_Missense_Mutation_p.E159Q NM_024638 NP_078914 Q9H974 QTRD1_HUMAN queuine tRNA-ribosyltransferase domain 265 queuosine biosynthetic process mitochondrion metal ion binding|queuine tRNA-ribosyltransferase activity central_nervous_system(1)|skin(1) 2 CGAGTGTATTGAAAGAGGAGT 0.433 NA 21 155 0 0 0 0 CCDC58 131076 broad.mit.edu 37 3 122090639 122090639 + Silent SNP G G C TCGA-CR-6484-01A-11D-1870-08 TCGA-CR-6484-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e72df726-1575-4789-afac-3b15a7643401 b0fa7dd3-58da-45b8-bff4-1d665e21df9f g.chr3:122090639G>C uc003eey.2 - 2 63 c.60C>G c.(58-60)CTC>CTG p.L20L NM_001017928 NP_001017928 Q4VC31 CCD58_HUMAN coiled-coil domain containing 58 20 0 GBM - Glioblastoma multiforme(114;0.148) TCATCACCTTGAGTAATTCCT 0.318 NA 8 63 0 0 0 0 PAQR9 344838 broad.mit.edu 37 3 142681168 142681168 + Silent SNP G G C TCGA-CR-6484-01A-11D-1870-08 TCGA-CR-6484-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e72df726-1575-4789-afac-3b15a7643401 b0fa7dd3-58da-45b8-bff4-1d665e21df9f g.chr3:142681168G>C uc003evg.2 - 1 1011 c.1011C>G c.(1009-1011)CTC>CTG p.L337L PAQR9_uc003evf.1_RNA NM_198504 NP_940906 Q6ZVX9 PAQR9_HUMAN progestin and adipoQ receptor family member IX 337 Cytoplasmic (Potential). integral to membrane receptor activity 0 GCGGCGCCTGGAGGAACTGGC 0.582 NA 17 123 0 0 0 0 PLSCR5 389158 broad.mit.edu 37 3 146307603 146307603 + Splice_Site SNP T T A TCGA-CR-6484-01A-11D-1870-08 TCGA-CR-6484-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e72df726-1575-4789-afac-3b15a7643401 b0fa7dd3-58da-45b8-bff4-1d665e21df9f g.chr3:146307603T>A uc003ewb.2 - 6 1620 c.616_splice c.e6-1 p.V206_splice PLSCR5_uc010hvb.2_Splice_Site_p.V194_splice|PLSCR5_uc010hvc.2_Splice_Site_p.V206_splice NM_001085420 NP_001078889 A0PG75 PLS5_HUMAN phospholipid scramblase family, member 5 0 GGTTTTCACCTTTAGAAAGAA 0.299 NA 4 110 0 0 0 0 TM4SF18 116441 broad.mit.edu 37 3 149039271 149039271 + Silent SNP G G A TCGA-CR-6484-01A-11D-1870-08 TCGA-CR-6484-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e72df726-1575-4789-afac-3b15a7643401 b0fa7dd3-58da-45b8-bff4-1d665e21df9f g.chr3:149039271G>A uc003exa.2 - 6 737 c.600C>T c.(598-600)ATC>ATT p.I200I NM_138786 NP_620141 Q96CE8 T4S18_HUMAN transmembrane 4 L six family member 18 200 Cytoplasmic (Potential). integral to membrane ovary(1) 1 LUSC - Lung squamous cell carcinoma(72;0.0378)|Lung(72;0.048) TTATTCAAATGATTCCAGGCT 0.303 NA 13 109 0 0 0 0 PTX3 5806 broad.mit.edu 37 3 157160249 157160249 + Silent SNP C C T TCGA-CR-6484-01A-11D-1870-08 TCGA-CR-6484-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e72df726-1575-4789-afac-3b15a7643401 b0fa7dd3-58da-45b8-bff4-1d665e21df9f g.chr3:157160249C>T uc003fbl.3 + 3 770 c.627C>T c.(625-627)GCC>GCT p.A209A VEPH1_uc003fbj.1_Intron|VEPH1_uc003fbk.1_Intron|VEPH1_uc010hvu.1_Intron NM_002852 NP_002843 P26022 PTX3_HUMAN pentraxin 3 precursor 209 Pentaxin. inflammatory response extracellular region central_nervous_system(1) 1 Lung(72;0.0272)|LUSC - Lung squamous cell carcinoma(72;0.0461) CTTTTAGTGCCTGCATTTGGG 0.423 NA 15 86 0 0 0 0 FAM43A 131583 broad.mit.edu 37 3 194408636 194408636 + Missense_Mutation SNP G G T TCGA-CR-6484-01A-11D-1870-08 TCGA-CR-6484-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e72df726-1575-4789-afac-3b15a7643401 b0fa7dd3-58da-45b8-bff4-1d665e21df9f g.chr3:194408636G>T uc003fuj.2 + 1 2015 c.1081G>T c.(1081-1083)GGC>TGC p.G361C NM_153690 NP_710157 Q8N2R8 FA43A_HUMAN hypothetical protein LOC131583 361 central_nervous_system(1) 1 all_cancers(143;2.04e-08)|Ovarian(172;0.0634) Lung NSC(153;0.147) OV - Ovarian serous cystadenocarcinoma(49;8.37e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06) GBM - Glioblastoma multiforme(46;1.78e-05) TAGCGACCTGGGCGAGCTCAG 0.527 NA 4 15 0.00909568 0.00936359 1 0 ZCCHC4 29063 broad.mit.edu 37 4 25351204 25351204 + Missense_Mutation SNP G G C TCGA-CR-6484-01A-11D-1870-08 TCGA-CR-6484-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e72df726-1575-4789-afac-3b15a7643401 b0fa7dd3-58da-45b8-bff4-1d665e21df9f g.chr4:25351204G>C uc003grl.3 + 7 886 c.850G>C c.(850-852)GAA>CAA p.E284Q ZCCHC4_uc003grm.1_RNA|ZCCHC4_uc003grn.3_Missense_Mutation_p.E50Q NM_024936 NP_079212 Q9H5U6 ZCHC4_HUMAN zinc finger, CCHC domain containing 4 284 methyltransferase activity|nucleic acid binding|zinc ion binding ovary(2) 2 Breast(46;0.0503) TGGCTTGGTTGAACCTCTGGC 0.378 NA 28 152 0 0 0 0 RHOH 399 broad.mit.edu 37 4 40245288 40245288 + Silent SNP G G A TCGA-CR-6484-01A-11D-1870-08 TCGA-CR-6484-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e72df726-1575-4789-afac-3b15a7643401 b0fa7dd3-58da-45b8-bff4-1d665e21df9f g.chr4:40245288G>A uc003guz.2 + 3 1006 c.282G>A c.(280-282)TTG>TTA p.L94L NM_004310 NP_004301 Q15669 RHOH_HUMAN ras homolog gene family, member H precursor 94 negative regulation of I-kappaB kinase/NF-kappaB cascade|regulation of small GTPase mediated signal transduction|regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|T cell differentiation cytosol|mitochondrion|plasma membrane GTP binding|GTPase inhibitor activity|kinase inhibitor activity|Rho GTPase binding ovary(1)|lung(1) 2 TCCTGAACTTGAAGAACAAGT 0.572 NA 14 32 0 0 0 0 LIMCH1 22998 broad.mit.edu 37 4 41648692 41648692 + Missense_Mutation SNP C C T TCGA-CR-6484-01A-11D-1870-08 TCGA-CR-6484-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e72df726-1575-4789-afac-3b15a7643401 b0fa7dd3-58da-45b8-bff4-1d665e21df9f g.chr4:41648692C>T uc003gvu.3 + 12 1501 c.1447C>T c.(1447-1449)CCC>TCC p.P483S LIMCH1_uc003gvv.3_Missense_Mutation_p.P483S|LIMCH1_uc003gvw.3_Missense_Mutation_p.P483S|LIMCH1_uc003gvx.3_Missense_Mutation_p.P471S|LIMCH1_uc003gwe.3_Missense_Mutation_p.P483S|LIMCH1_uc003gvy.3_Missense_Mutation_p.P312S|LIMCH1_uc003gwa.3_Missense_Mutation_p.P324S|LIMCH1_uc003gvz.3_Missense_Mutation_p.P868S|LIMCH1_uc011byu.1_Missense_Mutation_p.P317S|LIMCH1_uc003gwc.3_Missense_Mutation_p.P329S|LIMCH1_uc003gwd.3_Missense_Mutation_p.P317S|LIMCH1_uc011byv.1_Missense_Mutation_p.P234S NM_014988 NP_055803 Q9UPQ0 LIMC1_HUMAN LIM and calponin homology domains 1 isoform a 483 actomyosin structure organization actin binding|zinc ion binding ovary(2)|pancreas(1)|skin(1) 4 CCTGAATGACCCCAATCCCAT 0.488 NA 33 320 0 0 0 0 ANKRD50 57182 broad.mit.edu 37 4 125592795 125592795 + Missense_Mutation SNP C C T TCGA-CR-6484-01A-11D-1870-08 TCGA-CR-6484-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e72df726-1575-4789-afac-3b15a7643401 b0fa7dd3-58da-45b8-bff4-1d665e21df9f g.chr4:125592795C>T uc003ifg.3 - 3 1903 c.1637G>A c.(1636-1638)AGA>AAA p.R546K ANKRD50_uc011cgo.1_Missense_Mutation_p.R367K|ANKRD50_uc010inw.2_Missense_Mutation_p.R546K NM_020337 NP_065070 Q9ULJ7 ANR50_HUMAN ankyrin repeat domain 50 546 ANK 3. central_nervous_system(1) 1 CAATAATGTTCTCCCATTTGA 0.398 NA 6 64 0 0 0 0 SPEF2 79925 broad.mit.edu 37 5 35806816 35806816 + Nonsense_Mutation SNP C C G TCGA-CR-6484-01A-11D-1870-08 TCGA-CR-6484-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e72df726-1575-4789-afac-3b15a7643401 b0fa7dd3-58da-45b8-bff4-1d665e21df9f g.chr5:35806816C>G uc003jjo.2 + 35 5129 c.5018C>G c.(5017-5019)TCA>TGA p.S1673* SPEF2_uc003jjp.1_Nonsense_Mutation_p.S1159*|SPEF2_uc003jjr.2_Nonsense_Mutation_p.S728* NM_024867 NP_079143 Q9C093 SPEF2_HUMAN KPL2 protein isoform 1 1673 nucleobase, nucleoside, nucleotide and nucleic acid metabolic process ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity skin(2)|ovary(1)|central_nervous_system(1) 4 all_lung(31;7.56e-05) Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) CAGACCTCCTCAACTGATGCA 0.388 NA 5 29 0 0 0 0 DHX29 54505 broad.mit.edu 37 5 54591224 54591224 + Missense_Mutation SNP C C G TCGA-CR-6484-01A-11D-1870-08 TCGA-CR-6484-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e72df726-1575-4789-afac-3b15a7643401 b0fa7dd3-58da-45b8-bff4-1d665e21df9f g.chr5:54591224C>G uc003jpx.2 - 5 754 c.634G>C c.(634-636)GAG>CAG p.E212Q DHX29_uc010ivw.2_RNA NM_019030 NP_061903 Q7Z478 DHX29_HUMAN DEAH (Asp-Glu-Ala-His) box polypeptide 29 212 ATP binding|ATP-dependent helicase activity|translation initiation factor activity ovary(2)|central_nervous_system(1)|skin(1) 4 Lung NSC(810;4.08e-05)|Breast(144;0.0544)|Prostate(74;0.183) TTAGGGTCCTCTTCATATGTT 0.333 NA 11 85 0 0 0 0 MAP3K1 4214 broad.mit.edu 37 5 56179360 56179360 + Missense_Mutation SNP G G C TCGA-CR-6484-01A-11D-1870-08 TCGA-CR-6484-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e72df726-1575-4789-afac-3b15a7643401 b0fa7dd3-58da-45b8-bff4-1d665e21df9f g.chr5:56179360G>C uc003jqw.3 + 15 4174 c.3673G>C c.(3673-3675)GAG>CAG p.E1225Q NM_005921 NP_005912 Q13233 M3K1_HUMAN mitogen-activated protein kinase kinase kinase 1225 cellular response to mechanical stimulus|innate immune response|MyD88-dependent toll-like receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway cytosol ATP binding|zinc ion binding ovary(1)|skin(1) 2 Lung NSC(810;4.65e-05)|Prostate(74;0.0132)|Breast(144;0.0321)|Ovarian(174;0.223) OV - Ovarian serous cystadenocarcinoma(10;6.08e-40) GTAGACACCAGAGACTCTACC 0.368 NA 3 56 0 0 0 0 HTR1A 3350 broad.mit.edu 37 5 63256583 63256583 + Missense_Mutation SNP C C G TCGA-CR-6484-01A-11D-1870-08 TCGA-CR-6484-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e72df726-1575-4789-afac-3b15a7643401 b0fa7dd3-58da-45b8-bff4-1d665e21df9f g.chr5:63256583C>G uc011cqt.1 - 1 964 c.964G>C c.(964-966)GAG>CAG p.E322Q NM_000524 NP_000515 P08908 5HT1A_HUMAN 5-hydroxytryptamine (serotonin) receptor 1A 322 Cytoplasmic (By similarity). behavior|positive regulation of cell proliferation integral to plasma membrane serotonin receptor activity ovary(2)|pancreas(2) 4 Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0575)|Colorectal(97;0.234) Lung(70;0.105) Alprenolol(DB00866)|Aripiprazole(DB01238)|Buspirone(DB00490)|Clozapine(DB00363)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Fluvoxamine(DB00176)|Lisuride(DB00589)|Methysergide(DB00247)|Mirtazapine(DB00370)|Pindolol(DB00960)|Propranolol(DB00571)|Quetiapine(DB01224)|Sertraline(DB01104)|Tegaserod(DB01079)|Trazodone(DB00656)|Venlafaxine(DB00285)|Ziprasidone(DB00246) TTTTTCCTCTCGAAAGAGGCG 0.617 NA 4 51 0 0 0 0 XRCC4 7518 broad.mit.edu 37 5 82400809 82400809 + Missense_Mutation SNP G G C TCGA-CR-6484-01A-11D-1870-08 TCGA-CR-6484-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e72df726-1575-4789-afac-3b15a7643401 b0fa7dd3-58da-45b8-bff4-1d665e21df9f g.chr5:82400809G>C uc003kib.2 + 2 199 c.71G>C c.(70-72)TGG>TCG p.W24S XRCC4_uc003kia.1_Missense_Mutation_p.W24S|XRCC4_uc003kid.2_Missense_Mutation_p.W24S|XRCC4_uc003kic.2_Missense_Mutation_p.W24S|XRCC4_uc003kie.2_Missense_Mutation_p.W24S|XRCC4_uc003kif.1_Missense_Mutation_p.W24S NM_022406 NP_071801 Q13426 XRCC4_HUMAN X-ray repair cross complementing protein 4 24 DNA ligation involved in DNA repair|double-strand break repair via nonhomologous end joining|initiation of viral infection|positive regulation of ligase activity|provirus integration|response to X-ray cytosol|DNA ligase IV complex|DNA-dependent protein kinase-DNA ligase 4 complex|nucleoplasm DNA binding|protein C-terminus binding skin(3) 3 Lung NSC(167;0.00132)|all_lung(232;0.00154)|Ovarian(174;0.034) OV - Ovarian serous cystadenocarcinoma(54;1.44e-38)|Epithelial(54;3.72e-33)|all cancers(79;9.22e-28) CAAGTATCTTGGGAGAAAACA 0.338 NA NHEJ 10 110 0 0 0 0 APC 324 broad.mit.edu 37 5 112175987 112175987 + Missense_Mutation SNP G G T TCGA-CR-6484-01A-11D-1870-08 TCGA-CR-6484-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e72df726-1575-4789-afac-3b15a7643401 b0fa7dd3-58da-45b8-bff4-1d665e21df9f g.chr5:112175987G>T uc010jby.2 + 16 5076 c.4696G>T c.(4696-4698)GAT>TAT p.D1566Y APC_uc011cvt.1_Missense_Mutation_p.D1548Y|APC_uc003kpz.3_Missense_Mutation_p.D1566Y|APC_uc003kpy.3_Missense_Mutation_p.D1566Y|APC_uc010jbz.2_Missense_Mutation_p.D1283Y|APC_uc010jca.2_Missense_Mutation_p.D866Y NM_001127511 NP_001120983 P25054 APC_HUMAN adenomatous polyposis coli 1566 Ser-rich.|Asp/Glu-rich (acidic). canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly adherens junction|APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity p.K1192fs*3(1)|p.?(1) large_intestine(2123)|stomach(123)|soft_tissue(55)|small_intestine(34)|breast(26)|pancreas(25)|urinary_tract(20)|lung(19)|thyroid(18)|liver(13)|central_nervous_system(10)|ovary(9)|skin(7)|upper_aerodigestive_tract(6)|adrenal_gland(6)|bone(6)|NS(5)|prostate(4)|endometrium(3)|kidney(1)|oesophagus(1)|biliary_tract(1) 2515 all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133) OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191) CCTATTAGATGATTCAGATGA 0.363 12 D|Mis|N|F|S colorectal|pancreatic|desmoid|hepatoblastoma|glioma|other CNS colorectal|pancreatic|desmoid|hepatoblastoma|glioma|other CNS Hereditary_Desmoid_Disease|Familial_Adenomatous_Polyposis|Turcot_syndrome TSP Lung(16;0.13) 12 83 0.00010058 0.000106523 1 0 GRAMD3 65983 broad.mit.edu 37 5 125821386 125821386 + Missense_Mutation SNP G G C TCGA-CR-6484-01A-11D-1870-08 TCGA-CR-6484-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e72df726-1575-4789-afac-3b15a7643401 b0fa7dd3-58da-45b8-bff4-1d665e21df9f g.chr5:125821386G>C uc003ktu.2 + 11 1409 c.979G>C c.(979-981)GAA>CAA p.E327Q GRAMD3_uc011cwt.1_Missense_Mutation_p.E342Q|GRAMD3_uc011cwv.1_Missense_Mutation_p.E335Q|GRAMD3_uc011cww.1_Missense_Mutation_p.E223Q|GRAMD3_uc011cwx.1_RNA|GRAMD3_uc011cwy.1_Missense_Mutation_p.E218Q|GRAMD3_uc011cwz.1_Missense_Mutation_p.E311Q NM_023927 NP_076416 Q96HH9 GRAM3_HUMAN GRAM domain containing 3 isoform 2 327 central_nervous_system(1) 1 Prostate(80;0.0928) KIRC - Kidney renal clear cell carcinoma(527;0.0584)|Kidney(363;0.0934) Epithelial(69;0.0401)|OV - Ovarian serous cystadenocarcinoma(64;0.0604)|all cancers(49;0.108) AGGTCTGTCAGAAACTGTTGG 0.353 NA 6 60 0 0 0 0 RAD50 10111 broad.mit.edu 37 5 131953875 131953875 + Missense_Mutation SNP G G A TCGA-CR-6484-01A-11D-1870-08 TCGA-CR-6484-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e72df726-1575-4789-afac-3b15a7643401 b0fa7dd3-58da-45b8-bff4-1d665e21df9f g.chr5:131953875G>A uc003kxi.2 + 21 3665 c.3278G>A c.(3277-3279)CGA>CAA p.R1093Q RAD50_uc003kxh.2_Missense_Mutation_p.R954Q NM_005732 NP_005723 Q92878 RAD50_HUMAN RAD50 homolog isoform 1 1093 DNA duplex unwinding|double-strand break repair via homologous recombination|positive regulation of kinase activity|positive regulation of protein autophosphorylation|reciprocal meiotic recombination|regulation of mitotic recombination|telomere maintenance via telomerase Mre11 complex|nuclear chromosome, telomeric region|nucleoplasm ATP binding|DNA binding|nuclease activity|protein binding, bridging|zinc ion binding lung(2)|ovary(1)|skin(1) 4 all_cancers(142;0.0368)|Breast(839;0.198) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) AAAGAACTTCGAGAACCACAA 0.323 NA Homologous_recombination 32 187 0 0 0 0 PCDH1 5097 broad.mit.edu 37 5 141244811 141244811 + Missense_Mutation SNP C C T TCGA-CR-6484-01A-11D-1870-08 TCGA-CR-6484-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e72df726-1575-4789-afac-3b15a7643401 b0fa7dd3-58da-45b8-bff4-1d665e21df9f g.chr5:141244811C>T uc003llq.2 - 3 1202 c.1085G>A c.(1084-1086)CGA>CAA p.R362Q PCDH1_uc003llp.2_Missense_Mutation_p.R362Q|PCDH1_uc011dbf.1_Missense_Mutation_p.R340Q NM_002587 NP_002578 Q08174 PCDH1_HUMAN protocadherin 1 isoform 1 precursor 362 Extracellular (Potential).|Cadherin 3. cell-cell signaling|homophilic cell adhesion|nervous system development cell-cell junction|integral to plasma membrane calcium ion binding ovary(5) 5 Lung NSC(810;0.027)|all_lung(500;0.0321)|all_hematologic(541;0.0433)|Prostate(461;0.0453)|Breast(839;0.128)|Lung SC(612;0.238) KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GBM - Glioblastoma multiforme(465;1.06e-05) GTTGGTGCCTCGGTCCTTAGC 0.582 NA 14 102 0 0 0 0 KIAA0141 9812 broad.mit.edu 37 5 141307791 141307791 + Missense_Mutation SNP C C T TCGA-CR-6484-01A-11D-1870-08 TCGA-CR-6484-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e72df726-1575-4789-afac-3b15a7643401 b0fa7dd3-58da-45b8-bff4-1d665e21df9f g.chr5:141307791C>T uc003lls.2 + 4 462 c.340C>T c.(340-342)CGG>TGG p.R114W KIAA0141_uc003llt.2_Missense_Mutation_p.R114W NM_001142603 NP_001136075 Q14154 DELE_HUMAN hypothetical protein LOC9812 precursor 114 apoptosis|regulation of caspase activity mitochondrion protein binding skin(1) 1 all_hematologic(541;0.118) KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) AGGACCTCAGCGGGTAGAACA 0.612 NA 11 67 0 0 0 0 ZNF300 91975 broad.mit.edu 37 5 150276107 150276107 + Missense_Mutation SNP C C G TCGA-CR-6484-01A-11D-1870-08 TCGA-CR-6484-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e72df726-1575-4789-afac-3b15a7643401 b0fa7dd3-58da-45b8-bff4-1d665e21df9f g.chr5:150276107C>G uc003lsy.1 - 6 961 c.694G>C c.(694-696)GAG>CAG p.E232Q IRGM_uc011dcl.1_Intron NM_052860 NP_443092 Q96RE9 ZN300_HUMAN zinc finger protein 300 232 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1)|skin(1) 2 Medulloblastoma(196;0.109)|all_hematologic(541;0.131) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) TGAATCTTCTCAAGATTAGAA 0.353 NA 22 121 0 0 0 0 KIF4B 285643 broad.mit.edu 37 5 154393495 154393495 + Missense_Mutation SNP G G A TCGA-CR-6484-01A-11D-1870-08 TCGA-CR-6484-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e72df726-1575-4789-afac-3b15a7643401 b0fa7dd3-58da-45b8-bff4-1d665e21df9f g.chr5:154393495G>A uc010jih.1 + 1 236 c.76G>A c.(76-78)GAG>AAG p.E26K NM_001099293 NP_001092763 Q2VIQ3 KIF4B_HUMAN kinesin family member 4B 26 Kinesin-motor. axon guidance|blood coagulation|microtubule-based movement cytosol|microtubule|nuclear matrix ATP binding|DNA binding|microtubule motor activity ovary(1) 1 Renal(175;0.00488) Medulloblastoma(196;0.0523) KIRC - Kidney renal clear cell carcinoma(527;0.00112) AGAGATTAGCGAGGGCTGCCA 0.522 NA 22 44 0 0 0 0 GABRB2 2561 broad.mit.edu 37 5 160721121 160721121 + Missense_Mutation SNP G G C TCGA-CR-6484-01A-11D-1870-08 TCGA-CR-6484-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e72df726-1575-4789-afac-3b15a7643401 b0fa7dd3-58da-45b8-bff4-1d665e21df9f g.chr5:160721121G>C uc003lys.1 - 11 1724 c.1506C>G c.(1504-1506)TTC>TTG p.F502L GABRB2_uc011deh.1_Missense_Mutation_p.F303L|GABRB2_uc003lyr.1_Missense_Mutation_p.F464L|GABRB2_uc003lyt.1_Missense_Mutation_p.F464L|GABRB2_uc010jiu.1_Missense_Mutation_p.F401L NM_021911 NP_068711 P47870 GBRB2_HUMAN gamma-aminobutyric acid (GABA) A receptor, beta 502 Helical; (Probable). gamma-aminobutyric acid signaling pathway|synaptic transmission cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane chloride channel activity|GABA-A receptor activity 0 Renal(175;0.00259) Medulloblastoma(196;0.021)|all_neural(177;0.0463) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683) AGACGATGTTGAAGAAGGAAA 0.468 NA 7 55 0 0 0 0 FGFR4 2264 broad.mit.edu 37 5 176519745 176519745 + Silent SNP C C T TCGA-CR-6484-01A-11D-1870-08 TCGA-CR-6484-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e72df726-1575-4789-afac-3b15a7643401 b0fa7dd3-58da-45b8-bff4-1d665e21df9f g.chr5:176519745C>T uc003mfl.2 + 8 1184 c.1017C>T c.(1015-1017)ATC>ATT p.I339I FGFR4_uc003mfm.2_Silent_p.I339I|FGFR4_uc011dfu.1_Silent_p.I339I|FGFR4_uc011dfw.1_Silent_p.I339I|FGFR4_uc003mfo.2_Silent_p.I339I NM_002011 NP_002002 P22455 FGFR4_HUMAN fibroblast growth factor receptor 4 isoform 1 339 Extracellular (Potential).|Ig-like C2-type 3. insulin receptor signaling pathway|positive regulation of cell proliferation integral to plasma membrane ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity lung(11)|stomach(1)|central_nervous_system(1)|breast(1)|skin(1)|prostate(1) 16 all_cancers(89;5.93e-05)|Renal(175;0.000269)|Lung NSC(126;0.0088)|all_lung(126;0.0142) 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) Palifermin(DB00039) GCAATTCCATCGGCCTCTCCT 0.632 NA TSP Lung(9;0.080) 4 52 0 0 0 0 RGS14 10636 broad.mit.edu 37 5 176794747 176794747 + Silent SNP G G A TCGA-CR-6484-01A-11D-1870-08 TCGA-CR-6484-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e72df726-1575-4789-afac-3b15a7643401 b0fa7dd3-58da-45b8-bff4-1d665e21df9f g.chr5:176794747G>A uc003mgf.2 + 7 842 c.660G>A c.(658-660)CCG>CCA p.P220P RGS14_uc003mgg.1_Silent_p.P67P|RGS14_uc003mgh.2_Silent_p.P67P|RGS14_uc003mgi.2_5'UTR NM_006480 NP_006471 O43566 RGS14_HUMAN regulator of G-protein signalling 14 220 chromosome segregation|long-term memory|long-term synaptic potentiation|negative regulation of ERK1 and ERK2 cascade|negative regulation of MAP kinase activity|negative regulation of synaptic plasticity|nucleocytoplasmic transport|platelet-derived growth factor receptor signaling pathway|positive regulation of neurogenesis|regulation of DNA-dependent transcription in response to stress|regulation of G-protein coupled receptor protein signaling pathway|response to oxidative stress|spindle organization|visual learning|zygote asymmetric cell division cell junction|centrosome|dendritic spine|microtubule|PML body|postsynaptic density|postsynaptic membrane|spindle pole GDP-dissociation inhibitor activity|GTPase activator activity|microtubule binding|receptor signaling complex scaffold activity|receptor signaling protein activity lung(1) 1 all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152) 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) AGTCGCTGCCGCTGGGTGTGG 0.711 NA 6 34 0 0 0 0 NUP153 9972 broad.mit.edu 37 6 17637953 17637953 + Missense_Mutation SNP G G C TCGA-CR-6484-01A-11D-1870-08 TCGA-CR-6484-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e72df726-1575-4789-afac-3b15a7643401 b0fa7dd3-58da-45b8-bff4-1d665e21df9f g.chr6:17637953G>C uc003ncd.1 - 16 2095 c.1895C>G c.(1894-1896)ACA>AGA p.T632R NUP153_uc011dje.1_Missense_Mutation_p.T663R|NUP153_uc010jpl.1_Missense_Mutation_p.T590R NM_005124 NP_005115 P49790 NU153_HUMAN nucleoporin 153kDa 632 carbohydrate metabolic process|glucose transport|interspecies interaction between organisms|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction cytoplasm|nuclear membrane|nuclear pore|nucleolus|nucleoplasm DNA binding|protein binding|transporter activity|zinc ion binding lung(4)|ovary(2)|breast(2)|skin(1) 9 Breast(50;0.0259)|Ovarian(93;0.0584) all_hematologic(90;0.125) all cancers(50;0.0981)|Epithelial(50;0.112) TACTGGGCTTGTTGCGGTGGG 0.438 NA 10 80 0 0 0 0 HIST1H2BF 8343 broad.mit.edu 37 6 26200015 26200015 + Missense_Mutation SNP G G A TCGA-CR-6484-01A-11D-1870-08 TCGA-CR-6484-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e72df726-1575-4789-afac-3b15a7643401 b0fa7dd3-58da-45b8-bff4-1d665e21df9f g.chr6:26200015G>A uc003ngx.2 + 1 229 c.229G>A c.(229-231)GAG>AAG p.E77K HIST1H3D_uc003ngv.2_5'Flank|HIST1H2AD_uc003ngw.2_5'Flank NM_003522 NP_003513 P62807 H2B1C_HUMAN histone cluster 1, H2bf 77 defense response to bacterium|nucleosome assembly nucleosome|nucleus DNA binding|protein binding 0 all_hematologic(11;0.196) CATCGCTGGCGAGGCTTCCCG 0.612 NA 11 155 0 0 0 0 BTN1A1 696 broad.mit.edu 37 6 26505360 26505360 + Missense_Mutation SNP C C G TCGA-CR-6484-01A-11D-1870-08 TCGA-CR-6484-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e72df726-1575-4789-afac-3b15a7643401 b0fa7dd3-58da-45b8-bff4-1d665e21df9f g.chr6:26505360C>G uc003nif.3 + 3 655 c.635C>G c.(634-636)TCT>TGT p.S212C NM_001732 NP_001723 Q13410 BT1A1_HUMAN butyrophilin, subfamily 1, member A1 precursor 212 Extracellular (Potential).|Ig-like V-type 2. extracellular region|integral to plasma membrane receptor activity ovary(1)|skin(1) 2 AGAGACACTTCTGCGAAAAAT 0.448 NA 11 71 0 0 0 0 PGBD1 84547 broad.mit.edu 37 6 28269871 28269871 + Missense_Mutation SNP C C T rs147237521 byFrequency TCGA-CR-6484-01A-11D-1870-08 TCGA-CR-6484-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e72df726-1575-4789-afac-3b15a7643401 b0fa7dd3-58da-45b8-bff4-1d665e21df9f g.chr6:28269871C>T uc003nky.2 + 7 2610 c.2240C>T c.(2239-2241)TCG>TTG p.S747L PGBD1_uc003nkz.2_Missense_Mutation_p.S747L NM_032507 NP_115896 Q96JS3 PGBD1_HUMAN piggyBac transposable element derived 1 747 viral reproduction membrane|nucleus scavenger receptor activity|sequence-specific DNA binding transcription factor activity ovary(4) 4 CAAATTATTTCGAAATACAGG 0.388 NA 8 52 0 0 0 0 OR2H1 26716 broad.mit.edu 37 6 29430385 29430385 + Missense_Mutation SNP C C G TCGA-CR-6484-01A-11D-1870-08 TCGA-CR-6484-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e72df726-1575-4789-afac-3b15a7643401 b0fa7dd3-58da-45b8-bff4-1d665e21df9f g.chr6:29430385C>G uc003nmi.2 + 3 1282 c.839C>G c.(838-840)ACT>AGT p.T280S OR2H1_uc003nmj.1_Missense_Mutation_p.T280S|OR2H1_uc010jri.1_Missense_Mutation_p.T202S NM_030883 NP_112145 Q9GZK4 OR2H1_HUMAN olfactory receptor, family 2, subfamily H, 280 Helical; Name=7; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 GCAGTGGGCACTCCTTCACTT 0.512 NA 14 91 0 0 0 0 TRIM10 10107 broad.mit.edu 37 6 30126982 30126982 + Missense_Mutation SNP C C G TCGA-CR-6484-01A-11D-1870-08 TCGA-CR-6484-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e72df726-1575-4789-afac-3b15a7643401 b0fa7dd3-58da-45b8-bff4-1d665e21df9f g.chr6:30126982C>G uc003npo.3 - 2 546 c.470G>C c.(469-471)AGA>ACA p.R157T TRIM10_uc003npn.2_Missense_Mutation_p.R157T NM_006778 NP_006769 Q9UDY6 TRI10_HUMAN tripartite motif-containing 10 isoform 1 157 Potential. cytoplasm zinc ion binding 0 AATCTCCTCTCTCTCTTTTCT 0.423 NA 3 61 0 0 0 0 TRIM15 89870 broad.mit.edu 37 6 30131831 30131831 + Missense_Mutation SNP C C G TCGA-CR-6484-01A-11D-1870-08 TCGA-CR-6484-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e72df726-1575-4789-afac-3b15a7643401 b0fa7dd3-58da-45b8-bff4-1d665e21df9f g.chr6:30131831C>G uc010jrx.2 + 1 849 c.370C>G c.(370-372)CAG>GAG p.Q124E NM_033229 NP_150232 Q9C019 TRI15_HUMAN tripartite motif protein 15 124 mesodermal cell fate determination intracellular zinc ion binding 0 CGAGGCCATTCAGCCCTACCG 0.577 NA 11 42 0 0 0 0 HSPA1L 3305 broad.mit.edu 37 6 31778792 31778792 + Missense_Mutation SNP C C T TCGA-CR-6484-01A-11D-1870-08 TCGA-CR-6484-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e72df726-1575-4789-afac-3b15a7643401 b0fa7dd3-58da-45b8-bff4-1d665e21df9f g.chr6:31778792C>T uc003nxh.2 - 2 1141 c.958G>A c.(958-960)GAA>AAA p.E320K HSPA1L_uc010jte.2_Missense_Mutation_p.E320K NM_005527 NP_005518 P34931 HS71L_HUMAN heat shock 70kDa protein 1-like 320 response to unfolded protein ATP binding ovary(3)|pleura(1)|kidney(1)|skin(1) 6 AGCGCTTTTTCTACAGGCTCC 0.488 NA 10 65 0 0 0 0 KIFC1 3833 broad.mit.edu 37 6 33371665 33371665 + Missense_Mutation SNP G G C TCGA-CR-6484-01A-11D-1870-08 TCGA-CR-6484-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e72df726-1575-4789-afac-3b15a7643401 b0fa7dd3-58da-45b8-bff4-1d665e21df9f g.chr6:33371665G>C uc003oef.3 + 6 965 c.515G>C c.(514-516)AGA>ACA p.R172T KIFC1_uc011drf.1_Missense_Mutation_p.R164T NM_002263 NP_002254 Q9BW19 KIFC1_HUMAN kinesin family member C1 172 Potential. blood coagulation|cell division|microtubule-based movement|mitotic sister chromatid segregation early endosome|microtubule|microtubule associated complex|microtubule organizing center|nucleus|spindle ATP binding|microtubule motor activity 0 GACCAGCTCAGAGATGCCCAG 0.557 NA 12 91 0 0 0 0 KCNK16 83795 broad.mit.edu 37 6 39284586 39284586 + Missense_Mutation SNP G G T TCGA-CR-6484-01A-11D-1870-08 TCGA-CR-6484-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e72df726-1575-4789-afac-3b15a7643401 b0fa7dd3-58da-45b8-bff4-1d665e21df9f g.chr6:39284586G>T uc003ooq.2 - 4 647 c.633C>A c.(631-633)AGC>AGA p.S211R KCNK17_uc003ooo.2_5'Flank|KCNK17_uc003oop.2_5'Flank|KCNK16_uc003oor.3_Missense_Mutation_p.S211R|KCNK16_uc010jwy.2_Missense_Mutation_p.S211R|KCNK16_uc011dtz.1_Missense_Mutation_p.S211R NM_032115 NP_115491 Q96T55 KCNKG_HUMAN potassium channel, subfamily K, member 16 211 integral to membrane potassium channel activity|voltage-gated ion channel activity ovary(2)|skin(1) 3 AGCCAATGGTGCTGAGAGTGA 0.532 NA 36 247 4.47e-08 4.87e-08 1 0 ZNF451 26036 broad.mit.edu 37 6 57015615 57015615 + Silent SNP C C T TCGA-CR-6484-01A-11D-1870-08 TCGA-CR-6484-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e72df726-1575-4789-afac-3b15a7643401 b0fa7dd3-58da-45b8-bff4-1d665e21df9f g.chr6:57015615C>T uc003pdm.1 + 11 2931 c.2707C>T c.(2707-2709)CTA>TTA p.L903L ZNF451_uc003pdl.2_Silent_p.L903L|ZNF451_uc003pdn.1_Intron|uc003pdq.1_Intron|ZNF451_uc003pdk.1_Silent_p.L903L NM_001031623 NP_001026794 Q9Y4E5 ZN451_HUMAN zinc finger protein 451 isoform 1 903 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding ovary(1)|pancreas(1) 2 Lung NSC(77;0.145) LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13) TTTTGGTCATCTACCAGGGCA 0.358 NA 17 106 0 0 0 0 KIAA1009 22832 broad.mit.edu 37 6 84895136 84895136 + Missense_Mutation SNP C C G TCGA-CR-6484-01A-11D-1870-08 TCGA-CR-6484-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e72df726-1575-4789-afac-3b15a7643401 b0fa7dd3-58da-45b8-bff4-1d665e21df9f g.chr6:84895136C>G uc010kbp.2 - 13 1529 c.1432G>C c.(1432-1434)GAA>CAA p.E478Q KIAA1009_uc003pkj.3_Missense_Mutation_p.E402Q|KIAA1009_uc003pkk.2_Missense_Mutation_p.E478Q|KIAA1009_uc003pki.3_5'UTR NM_014895 NP_055710 Q5TB80 QN1_HUMAN KIAA1009 protein 478 cell division|mitosis centrosome|nucleus|plasma membrane|spindle protein binding ovary(1) 1 all_cancers(76;1.5e-06)|Acute lymphoblastic leukemia(125;2.69e-07)|all_hematologic(105;0.000151)|all_epithelial(107;0.00258) BRCA - Breast invasive adenocarcinoma(397;0.089) ACAGCCCCTTCTTCTTCAGAA 0.363 NA 9 96 0 0 0 0 GPR63 81491 broad.mit.edu 37 6 97247016 97247016 + Silent SNP G G A TCGA-CR-6484-01A-11D-1870-08 TCGA-CR-6484-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e72df726-1575-4789-afac-3b15a7643401 b0fa7dd3-58da-45b8-bff4-1d665e21df9f g.chr6:97247016G>A uc010kcl.2 - 3 1070 c.592C>T c.(592-594)CTG>TTG p.L198L GPR63_uc003pou.2_Silent_p.L198L NM_001143957 NP_001137429 Q9BZJ6 GPR63_HUMAN G protein-coupled receptor 63 198 Helical; Name=4; (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) ACTGCAATCAGAACCTTAGCT 0.458 NA 5 109 0 0 0 0 LAMA4 3910 broad.mit.edu 37 6 112537671 112537671 + Splice_Site SNP C C T TCGA-CR-6484-01A-11D-1870-08 TCGA-CR-6484-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e72df726-1575-4789-afac-3b15a7643401 b0fa7dd3-58da-45b8-bff4-1d665e21df9f g.chr6:112537671C>T uc003pvu.2 - 3 505 c.196_splice c.e3-1 p.K66_splice LAMA4_uc003pvv.2_Splice_Site_p.K66_splice|LAMA4_uc003pvt.2_Splice_Site_p.K66_splice|LAMA4_uc003pvw.2_Splice_Site_p.K66_splice NM_001105206 NP_001098676 Q16363 LAMA4_HUMAN laminin, alpha 4 isoform 1 precursor cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development laminin-1 complex extracellular matrix structural constituent|receptor binding ovary(4)|breast(2)|large_intestine(1)|central_nervous_system(1)|pancreas(1) 9 all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209) all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242) CATTGCATTTCTGCAACAGAC 0.393 NA 9 40 0 0 0 0 ALDH8A1 64577 broad.mit.edu 37 6 135239804 135239804 + Missense_Mutation SNP C C T TCGA-CR-6484-01A-11D-1870-08 TCGA-CR-6484-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e72df726-1575-4789-afac-3b15a7643401 b0fa7dd3-58da-45b8-bff4-1d665e21df9f g.chr6:135239804C>T uc003qew.2 - 7 1266 c.1213G>A c.(1213-1215)GAA>AAA p.E405K ALDH8A1_uc003qex.2_Missense_Mutation_p.E351K|ALDH8A1_uc010kgh.2_Missense_Mutation_p.E183K|ALDH8A1_uc011ecx.1_Missense_Mutation_p.E355K NM_022568 NP_072090 Q9H2A2 AL8A1_HUMAN aldehyde dehydrogenase 8A1 isoform 1 405 retinal metabolic process cytoplasm retinal dehydrogenase activity ovary(2)|pancreas(1)|skin(1) 4 Colorectal(23;0.221) OV - Ovarian serous cystadenocarcinoma(155;0.00401)|GBM - Glioblastoma multiforme(68;0.0058) ACCTCCTCTTCACTATCAAAG 0.517 NA 7 74 0 0 0 0 UTRN 7402 broad.mit.edu 37 6 144772564 144772564 + Missense_Mutation SNP C C G TCGA-CR-6484-01A-11D-1870-08 TCGA-CR-6484-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e72df726-1575-4789-afac-3b15a7643401 b0fa7dd3-58da-45b8-bff4-1d665e21df9f g.chr6:144772564C>G uc003qkt.2 + 17 2223 c.2131C>G c.(2131-2133)CAG>GAG p.Q711E UTRN_uc010khq.1_Missense_Mutation_p.Q711E NM_007124 NP_009055 P46939 UTRO_HUMAN utrophin 711 Interaction with SYNM.|Spectrin 5. muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane actin binding|calcium ion binding|zinc ion binding ovary(4)|pancreas(1) 5 Ovarian(120;0.218) OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213) AACTGCCATTCAGACCACAGA 0.363 NA 7 32 0 0 0 0 ARID1B 57492 broad.mit.edu 37 6 157522076 157522076 + Missense_Mutation SNP G G A TCGA-CR-6484-01A-11D-1870-08 TCGA-CR-6484-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e72df726-1575-4789-afac-3b15a7643401 b0fa7dd3-58da-45b8-bff4-1d665e21df9f g.chr6:157522076G>A uc003qqn.2 + 18 4446 c.4294G>A c.(4294-4296)GGC>AGC p.G1432S ARID1B_uc003qqo.2_Missense_Mutation_p.G1392S|ARID1B_uc003qqp.2_Missense_Mutation_p.G1379S NM_017519 NP_059989 Q8NFD5 ARI1B_HUMAN AT rich interactive domain 1B (SWI1-like) 1437 chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent SWI/SNF complex DNA binding|protein binding|transcription coactivator activity ovary(1)|breast(1) 2 Breast(66;0.000162)|Ovarian(120;0.0265) OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05) GATGATGGGCGGCCCGCTGCA 0.637 NA 10 29 0 0 0 0 MICALL2 79778 broad.mit.edu 37 7 1477794 1477794 + Silent SNP C C T TCGA-CR-6484-01A-11D-1870-08 TCGA-CR-6484-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e72df726-1575-4789-afac-3b15a7643401 b0fa7dd3-58da-45b8-bff4-1d665e21df9f g.chr7:1477794C>T uc003skj.3 - 12 2397 c.2250G>A c.(2248-2250)CGG>CGA p.R750R MICALL2_uc003skh.3_5'UTR|MICALL2_uc003ski.3_Silent_p.R237R NM_182924 NP_891554 Q8IY33 MILK2_HUMAN MICAL-like 2 isoform 1 750 Potential. cytoplasm|cytoskeleton zinc ion binding central_nervous_system(1) 1 Ovarian(82;0.0253) UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;6.01e-15) GGGCGTCCAGCCGCCTCTCGA 0.726 NA 2 3 0 0 0 0 FOXK1 221937 broad.mit.edu 37 7 4722413 4722413 + Silent SNP C C T TCGA-CR-6484-01A-11D-1870-08 TCGA-CR-6484-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e72df726-1575-4789-afac-3b15a7643401 b0fa7dd3-58da-45b8-bff4-1d665e21df9f g.chr7:4722413C>T uc003snc.1 + 1 484 c.474C>T c.(472-474)TTC>TTT p.F158F FOXK1_uc003sna.1_Intron|FOXK1_uc003snb.1_Silent_p.F158F NM_001037165 NP_001032242 P85037 FOXK1_HUMAN forkhead box K1 158 FHA. cell differentiation|embryo development|muscle organ development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development transcription factor complex DNA bending activity|double-stranded DNA binding|magnesium ion binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding upper_aerodigestive_tract(1)|skin(1) 2 Ovarian(82;0.0175) UCEC - Uterine corpus endometrioid carcinoma (126;0.101)|OV - Ovarian serous cystadenocarcinoma(56;7.43e-15) AGCCGCACTTCTACCTGCGCT 0.692 NA 3 12 0 0 0 0 FOXK1 221937 broad.mit.edu 37 7 4800700 4800700 + Missense_Mutation SNP G G C TCGA-CR-6484-01A-11D-1870-08 TCGA-CR-6484-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e72df726-1575-4789-afac-3b15a7643401 b0fa7dd3-58da-45b8-bff4-1d665e21df9f g.chr7:4800700G>C uc003snc.1 + 8 1712 c.1702G>C c.(1702-1704)GAG>CAG p.E568Q FOXK1_uc003sna.1_Missense_Mutation_p.E405Q NM_001037165 NP_001032242 P85037 FOXK1_HUMAN forkhead box K1 568 cell differentiation|embryo development|muscle organ development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development transcription factor complex DNA bending activity|double-stranded DNA binding|magnesium ion binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding upper_aerodigestive_tract(1)|skin(1) 2 Ovarian(82;0.0175) UCEC - Uterine corpus endometrioid carcinoma (126;0.101)|OV - Ovarian serous cystadenocarcinoma(56;7.43e-15) CGCAGGCCTGGAGGAGAAACC 0.637 NA 9 94 0 0 0 0 MACC1 346389 broad.mit.edu 37 7 20198921 20198921 + Missense_Mutation SNP G G C TCGA-CR-6484-01A-11D-1870-08 TCGA-CR-6484-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e72df726-1575-4789-afac-3b15a7643401 b0fa7dd3-58da-45b8-bff4-1d665e21df9f g.chr7:20198921G>C uc003sus.3 - 5 1372 c.1063C>G c.(1063-1065)CTT>GTT p.L355V MACC1_uc010kug.2_Missense_Mutation_p.L355V NM_182762 NP_877439 Q6ZN28 MACC1_HUMAN putative binding protein 7a5 355 positive regulation of cell division|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus|plasma membrane growth factor activity ovary(2)|skin(1) 3 GGTGACGGAAGAGCTTTAGCT 0.398 NA 3 67 0 0 0 0 NT5C3 51251 broad.mit.edu 37 7 33066516 33066516 + Silent SNP G G A TCGA-CR-6484-01A-11D-1870-08 TCGA-CR-6484-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e72df726-1575-4789-afac-3b15a7643401 b0fa7dd3-58da-45b8-bff4-1d665e21df9f g.chr7:33066516G>A uc003tdk.2 - 2 242 c.165C>T c.(163-165)TTC>TTT p.F55F AVL9_uc011kai.1_Intron|NT5C3_uc003tdi.2_Silent_p.F16F|NT5C3_uc003tdj.2_Silent_p.F16F NM_001002010 NP_001002010 Q9H0P0 5NT3_HUMAN 5'-nucleotidase, cytosolic III isoform 1 55 nucleotide metabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process cytosol|endoplasmic reticulum 2'-phosphotransferase activity|5'-nucleotidase activity|magnesium ion binding|nucleotide binding ovary(1) 1 GBM - Glioblastoma multiforme(11;0.0894) AACTTTTCTGGAATTCTGGCA 0.343 NA 9 60 0 0 0 0 ELMO1 9844 broad.mit.edu 37 7 37172813 37172813 + Silent SNP G G A TCGA-CR-6484-01A-11D-1870-08 TCGA-CR-6484-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e72df726-1575-4789-afac-3b15a7643401 b0fa7dd3-58da-45b8-bff4-1d665e21df9f g.chr7:37172813G>A uc003tfk.1 - 14 1420 c.1113C>T c.(1111-1113)TTC>TTT p.F371F ELMO1_uc011kbc.1_Silent_p.F275F|ELMO1_uc010kxg.1_Silent_p.F371F NM_014800 NP_055615 Q92556 ELMO1_HUMAN engulfment and cell motility 1 isoform 1 371 ELMO. actin cytoskeleton organization|apoptosis|cellular component movement|phagocytosis, engulfment|Rac protein signal transduction|regulation of defense response to virus by virus|viral reproduction cytoskeleton|cytosol|plasma membrane SH3 domain binding ovary(3)|skin(2)|upper_aerodigestive_tract(1) 6 GAGTCTGCGTGAAGTCCATGG 0.468 NA 14 141 0 0 0 0 C7orf36 57002 broad.mit.edu 37 7 39606114 39606114 + Missense_Mutation SNP G G C TCGA-CR-6484-01A-11D-1870-08 TCGA-CR-6484-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e72df726-1575-4789-afac-3b15a7643401 b0fa7dd3-58da-45b8-bff4-1d665e21df9f g.chr7:39606114G>C uc003thc.3 + 1 106 c.97G>C c.(97-99)GAA>CAA p.E33Q NM_020192 NP_064577 Q9NRH1 CG036_HUMAN hypothetical protein LOC57002 33 0 GGCGCAGCGGGAATGGCAGAG 0.587 NA 5 36 0 0 0 0 CDK13 8621 broad.mit.edu 37 7 40041594 40041594 + Missense_Mutation SNP G G C TCGA-CR-6484-01A-11D-1870-08 TCGA-CR-6484-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e72df726-1575-4789-afac-3b15a7643401 b0fa7dd3-58da-45b8-bff4-1d665e21df9f g.chr7:40041594G>C uc003thh.3 + 5 2599 c.2317G>C c.(2317-2319)GAT>CAT p.D773H CDK13_uc003thi.3_Missense_Mutation_p.D773H|CDK13_uc011kbf.1_Missense_Mutation_p.D159H NM_003718 NP_003709 Q14004 CDK13_HUMAN cell division cycle 2-like 5 isoform 1 773 Protein kinase. alternative nuclear mRNA splicing, via spliceosome|hemopoiesis|interspecies interaction between organisms|phosphorylation of RNA polymerase II C-terminal domain|positive regulation of cell proliferation|regulation of mitosis nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity lung(2)|skin(2)|ovary(1) 5 AATAGTGACTGATAAAGAAGA 0.323 NA 16 78 0 0 0 0 CCM2 83605 broad.mit.edu 37 7 45113081 45113081 + Missense_Mutation SNP G G A TCGA-CR-6484-01A-11D-1870-08 TCGA-CR-6484-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e72df726-1575-4789-afac-3b15a7643401 b0fa7dd3-58da-45b8-bff4-1d665e21df9f g.chr7:45113081G>A uc003tmo.2 + 8 972 c.826G>A c.(826-828)GTG>ATG p.V276M CCM2_uc003tmn.2_RNA|CCM2_uc003tmp.2_Missense_Mutation_p.V218M|CCM2_uc003tmq.2_RNA|CCM2_uc003tmr.2_Missense_Mutation_p.V185M|CCM2_uc003tms.2_Missense_Mutation_p.V297M NM_031443 NP_113631 Q9BSQ5 CCM2_HUMAN cerebral cavernous malformation 2 isoform 2 276 endothelial tube morphogenesis|integrin-mediated signaling pathway|stress-activated MAPK cascade|vasculogenesis cytoplasm protein binding 0 ATCTGTGGATGTGGGTGGTGC 0.587 NA Familial_Cerebral_Cavernous_Angioma 5 30 0 0 0 0 STYXL1 51657 broad.mit.edu 37 7 75643194 75643194 + Nonsense_Mutation SNP G G A TCGA-CR-6484-01A-11D-1870-08 TCGA-CR-6484-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e72df726-1575-4789-afac-3b15a7643401 b0fa7dd3-58da-45b8-bff4-1d665e21df9f g.chr7:75643194G>A uc003uej.3 - 5 492 c.319C>T c.(319-321)CAA>TAA p.Q107* STYXL1_uc011kgf.1_Intron|STYXL1_uc011kgg.1_5'UTR|STYXL1_uc003ueh.2_Intron|STYXL1_uc003uek.3_Intron|STYXL1_uc003uel.2_Nonsense_Mutation_p.Q107*|STYXL1_uc003uem.2_Nonsense_Mutation_p.Q107*|STYXL1_uc010ldg.1_Intron|STYXL1_uc010ldh.1_Nonsense_Mutation_p.Q107*|STYXL1_uc003uen.1_Nonsense_Mutation_p.Q107* NM_016086 NP_057170 Q9Y6J8 STYL1_HUMAN map kinase phosphatase-like protein MK-STYX 107 Rhodanese. intracellular signal transduction|protein dephosphorylation intracellular protein binding|protein tyrosine/serine/threonine phosphatase activity 0 ATGGCTGCTTGAGGCACAAGA 0.522 NA 23 129 0 0 0 0 SRRM3 222183 broad.mit.edu 37 7 75896598 75896598 + Missense_Mutation SNP G G A TCGA-CR-6484-01A-11D-1870-08 TCGA-CR-6484-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e72df726-1575-4789-afac-3b15a7643401 b0fa7dd3-58da-45b8-bff4-1d665e21df9f g.chr7:75896598G>A uc010ldi.2 + 11 1062 c.853G>A c.(853-855)GAA>AAA p.E285K SRRM3_uc011kgi.1_5'UTR NM_001110199 NP_001103669 serine/arginine repetitive matrix 3 0 GCACCGAGACGAAGGGCGAAA 0.706 NA 4 13 0 0 0 0 PCLO 27445 broad.mit.edu 37 7 82453635 82453635 + Missense_Mutation SNP T T C TCGA-CR-6484-01A-11D-1870-08 TCGA-CR-6484-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e72df726-1575-4789-afac-3b15a7643401 b0fa7dd3-58da-45b8-bff4-1d665e21df9f g.chr7:82453635T>C uc003uhx.2 - 19 14802 c.14513A>G c.(14512-14514)CAT>CGT p.H4838R PCLO_uc003uhv.2_Missense_Mutation_p.H4838R|PCLO_uc003uht.1_Missense_Mutation_p.H280R|PCLO_uc003uhu.1_Missense_Mutation_p.H259R NM_033026 NP_149015 Q9Y6V0 PCLO_HUMAN piccolo isoform 1 4700 Ser-rich. cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity ovary(7) 7 CTGACTGGAATGAGACTTGCC 0.433 NA 9 38 0 0 0 0 AKAP9 10142 broad.mit.edu 37 7 91726162 91726162 + Missense_Mutation SNP G G C TCGA-CR-6484-01A-11D-1870-08 TCGA-CR-6484-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e72df726-1575-4789-afac-3b15a7643401 b0fa7dd3-58da-45b8-bff4-1d665e21df9f g.chr7:91726162G>C uc003ulg.2 + 41 10114 c.9889G>C c.(9889-9891)GAG>CAG p.E3297Q AKAP9_uc003ulf.2_Missense_Mutation_p.E3289Q|AKAP9_uc003uli.2_Missense_Mutation_p.E2920Q|AKAP9_uc003ulj.2_Missense_Mutation_p.E1067Q|AKAP9_uc003ull.2_Missense_Mutation_p.E193Q NM_005751 NP_005742 Q99996 AKAP9_HUMAN A-kinase anchor protein 9 isoform 2 3301 Potential. E -> Q (in a breast cancer sample; somatic mutation). G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport centrosome|cytosol|Golgi apparatus receptor binding p.E3301Q(1) breast(7)|ovary(6)|lung(5)|skin(3)|large_intestine(2)|prostate(2)|central_nervous_system(1) 26 all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249) STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225) TCGAAACTTAGAGCTTCAGGT 0.438 NA T BRAF papillary thyroid 13 72 0 0 0 0 SAMD9 54809 broad.mit.edu 37 7 92731898 92731898 + Silent SNP T T C TCGA-CR-6484-01A-11D-1870-08 TCGA-CR-6484-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e72df726-1575-4789-afac-3b15a7643401 b0fa7dd3-58da-45b8-bff4-1d665e21df9f g.chr7:92731898T>C uc003umf.2 - 3 3769 c.3513A>G c.(3511-3513)GAA>GAG p.E1171E SAMD9_uc003umg.2_Silent_p.E1171E NM_017654 NP_060124 Q5K651 SAMD9_HUMAN sterile alpha motif domain containing 9 1171 cytoplasm ovary(3)|skin(2)|breast(1)|central_nervous_system(1) 7 all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125) STAD - Stomach adenocarcinoma(171;0.000302) ACTCTCTATCTTCACTTTGCT 0.393 NA 25 163 0 0 0 0 TAF6 6878 broad.mit.edu 37 7 99705659 99705659 + Missense_Mutation SNP G G A TCGA-CR-6484-01A-11D-1870-08 TCGA-CR-6484-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e72df726-1575-4789-afac-3b15a7643401 b0fa7dd3-58da-45b8-bff4-1d665e21df9f g.chr7:99705659G>A uc003uti.2 - 14 1627 c.1546C>T c.(1546-1548)CCT>TCT p.P516S AP4M1_uc003utd.2_Intron|TAF6_uc003utg.2_Missense_Mutation_p.P438S|TAF6_uc003uth.2_Missense_Mutation_p.P573S|TAF6_uc003utk.2_Missense_Mutation_p.P516S|TAF6_uc011kji.1_Missense_Mutation_p.P553S|TAF6_uc003utj.2_Missense_Mutation_p.P506S|TAF6_uc003utl.2_Missense_Mutation_p.P506S|TAF6_uc003utm.2_Missense_Mutation_p.P516S NM_139315 NP_647476 P49848 TAF6_HUMAN TBP-associated factor 6 isoform alpha 516 negative regulation of cell cycle|negative regulation of cell proliferation|regulation of sequence-specific DNA binding transcription factor activity|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction cytoplasm|MLL1 complex|transcription factor TFIID complex|transcription factor TFIID complex|transcription factor TFTC complex DNA binding|protein binding|sequence-specific DNA binding transcription factor activity ovary(1)|central_nervous_system(1) 2 Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439) GTCTGGACAGGAAGTGCGATG 0.647 NA 5 46 0 0 0 0 TFR2 7036 broad.mit.edu 37 7 100229801 100229801 + Silent SNP G G A TCGA-CR-6484-01A-11D-1870-08 TCGA-CR-6484-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e72df726-1575-4789-afac-3b15a7643401 b0fa7dd3-58da-45b8-bff4-1d665e21df9f g.chr7:100229801G>A uc003uvv.1 - 7 911 c.870C>T c.(868-870)TTC>TTT p.F290F TFR2_uc010lhc.1_5'UTR|TFR2_uc003uvu.1_Silent_p.F119F NM_003227 NP_003218 Q9UP52 TFR2_HUMAN transferrin receptor 2 290 Extracellular (Potential). cellular iron ion homeostasis|iron ion transport|proteolysis cytoplasm|integral to plasma membrane peptidase activity|transferrin receptor activity ovary(1)|pancreas(1) 2 Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439) CTTGAGCCCCGAAGTCCTGAG 0.557 NA 18 87 0 0 0 0 PRSS1 5644 broad.mit.edu 37 7 142460822 142460822 + Missense_Mutation SNP T T G TCGA-CR-6484-01A-11D-1870-08 TCGA-CR-6484-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e72df726-1575-4789-afac-3b15a7643401 b0fa7dd3-58da-45b8-bff4-1d665e21df9f g.chr7:142460822T>G uc003wak.2 + 5 712 c.695T>G c.(694-696)GTC>GGC p.V232G uc011krr.1_Intron|uc003vzp.2_Intron|uc011ksh.1_Intron|uc011ksi.1_Intron|uc003vzw.1_Intron|uc010loj.1_Intron|uc003wad.2_Intron|uc003wag.1_Intron|TRY6_uc011ksn.1_Intron|PRSS1_uc003wam.2_Missense_Mutation_p.V172G NM_002769 NP_002760 P07477 TRY1_HUMAN protease, serine, 1 preproprotein 232 Peptidase S1. digestion|proteolysis extracellular space metal ion binding|protein binding|serine-type endopeptidase activity large_intestine(1)|central_nervous_system(1) 2 Melanoma(164;0.047) all_cancers(3;2.14e-49)|Acute lymphoblastic leukemia(3;7.3e-185)|all_hematologic(3;1.1e-165) all cancers(2;0.000126)|Colorectal(2;0.000157)|Epithelial(2;0.000191)|COAD - Colon adenocarcinoma(2;0.00189) TACACCAAGGTCTACAACTAT 0.488 NA Hereditary_Pancreatitis 16 66 0 0 0 0 GIMAP8 155038 broad.mit.edu 37 7 150164001 150164001 + Missense_Mutation SNP C C T TCGA-CR-6484-01A-11D-1870-08 TCGA-CR-6484-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e72df726-1575-4789-afac-3b15a7643401 b0fa7dd3-58da-45b8-bff4-1d665e21df9f g.chr7:150164001C>T uc003whj.2 + 2 545 c.215C>T c.(214-216)TCA>TTA p.S72L NM_175571 NP_783161 Q8ND71 GIMA8_HUMAN GTPase, IMAP family member 8 72 endoplasmic reticulum|Golgi apparatus|mitochondrion GTP binding skin(3)|ovary(2)|breast(1)|central_nervous_system(1) 7 OV - Ovarian serous cystadenocarcinoma(82;0.0218) UCEC - Uterine corpus endometrioid carcinoma (81;0.17) CTTTTCTCCTCAATAGCTTGT 0.493 NA 26 140 0 0 0 0 ATG9B 285973 broad.mit.edu 37 7 150713883 150713883 + Silent SNP G G A TCGA-CR-6484-01A-11D-1870-08 TCGA-CR-6484-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e72df726-1575-4789-afac-3b15a7643401 b0fa7dd3-58da-45b8-bff4-1d665e21df9f g.chr7:150713883G>A uc011kvc.1 - 12 2392 c.2316C>T c.(2314-2316)TTC>TTT p.F772F ATG9B_uc003wig.3_RNA NM_173681 NP_775952 Q674R7 ATG9B_HUMAN ATG9 autophagy related 9 homolog B 772 Cytoplasmic (By similarity). autophagic vacuole assembly autophagic vacuole membrane|cytoplasmic vesicle|integral to membrane ovary(1) 1 all_neural(206;0.219) OV - Ovarian serous cystadenocarcinoma(82;0.0121) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) GAGGGTGCACGAAGAGGTTGG 0.612 NA 6 21 0 0 0 0 DUSP26 78986 broad.mit.edu 37 8 33454978 33454978 + Missense_Mutation SNP C C T TCGA-CR-6484-01A-11D-1870-08 TCGA-CR-6484-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e72df726-1575-4789-afac-3b15a7643401 b0fa7dd3-58da-45b8-bff4-1d665e21df9f g.chr8:33454978C>T uc003xjp.2 - 2 389 c.56G>A c.(55-57)CGG>CAG p.R19Q DUSP26_uc003xjq.2_Missense_Mutation_p.R19Q NM_024025 NP_076930 Q9BV47 DUS26_HUMAN dual specificity phosphatase 26 19 Golgi apparatus|nucleus protein binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity 0 KIRC - Kidney renal clear cell carcinoma(67;0.0918)|Kidney(114;0.111) TGAGCTACTCCGGGAGAAGCG 0.557 NA 9 51 0 0 0 0 GPR124 25960 broad.mit.edu 37 8 37690552 37690552 + Missense_Mutation SNP C C G TCGA-CR-6484-01A-11D-1870-08 TCGA-CR-6484-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e72df726-1575-4789-afac-3b15a7643401 b0fa7dd3-58da-45b8-bff4-1d665e21df9f g.chr8:37690552C>G uc003xkj.2 + 9 1485 c.1122C>G c.(1120-1122)ATC>ATG p.I374M GPR124_uc010lvy.2_Missense_Mutation_p.I374M NM_032777 NP_116166 Q96PE1 GP124_HUMAN G protein-coupled receptor 124 precursor 374 Extracellular (Potential). central nervous system development|endothelial cell migration|neuropeptide signaling pathway|regulation of angiogenesis|regulation of chemotaxis|sprouting angiogenesis integral to membrane|plasma membrane G-protein coupled receptor activity large_intestine(2)|ovary(2)|skin(1) 5 BRCA - Breast invasive adenocarcinoma(5;2.75e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10) TGGCTGGCATCACAGCCTACC 0.667 NA 15 134 0 0 0 0 CHRNA6 8973 broad.mit.edu 37 8 42611780 42611780 + Missense_Mutation SNP G G C TCGA-CR-6484-01A-11D-1870-08 TCGA-CR-6484-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e72df726-1575-4789-afac-3b15a7643401 b0fa7dd3-58da-45b8-bff4-1d665e21df9f g.chr8:42611780G>C uc003xpj.2 - 5 608 c.562C>G c.(562-564)CTT>GTT p.L188V CHRNA6_uc011lcw.1_Missense_Mutation_p.L173V NM_004198 NP_004189 Q15825 ACHA6_HUMAN cholinergic receptor, nicotinic, alpha 6 188 Extracellular. cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity 0 all_lung(13;3.33e-12)|Lung NSC(13;9.17e-11)|Ovarian(28;0.01)|Prostate(17;0.0119)|Lung SC(25;0.184) all_lung(54;0.00439)|Lung NSC(58;0.0124)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151) Lung(22;0.0252)|LUSC - Lung squamous cell carcinoma(45;0.0869) ATGATTAGAAGATCAATTTCA 0.363 NA 5 68 0 0 0 0 CHD7 55636 broad.mit.edu 37 8 61736506 61736506 + Silent SNP C C T TCGA-CR-6484-01A-11D-1870-08 TCGA-CR-6484-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e72df726-1575-4789-afac-3b15a7643401 b0fa7dd3-58da-45b8-bff4-1d665e21df9f g.chr8:61736506C>T uc003xue.2 + 13 3786 c.3309C>T c.(3307-3309)GTC>GTT p.V1103V CHD7_uc003xuf.2_Silent_p.V216V NM_017780 NP_060250 Q9P2D1 CHD7_HUMAN chromodomain helicase DNA binding protein 7 1103 Helicase ATP-binding. central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent nucleus ATP binding|chromatin binding|DNA binding|helicase activity ovary(4)|large_intestine(1)|central_nervous_system(1)|lung(1)|breast(1)|pancreas(1) 9 all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477) BRCA - Breast invasive adenocarcinoma(89;0.143) GCTGTGTAGTCATTGATGAAG 0.453 NA 13 118 0 0 0 0 VCPIP1 80124 broad.mit.edu 37 8 67577807 67577807 + Missense_Mutation SNP C C G TCGA-CR-6484-01A-11D-1870-08 TCGA-CR-6484-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e72df726-1575-4789-afac-3b15a7643401 b0fa7dd3-58da-45b8-bff4-1d665e21df9f g.chr8:67577807C>G uc003xwn.2 - 1 1646 c.1387G>C c.(1387-1389)GAT>CAT p.D463H SGK3_uc003xwp.2_5'Flank|C8orf44_uc003xwo.1_5'Flank NM_025054 NP_079330 Q96JH7 VCIP1_HUMAN valosin containing protein (p97)/p47 complex 463 protein ubiquitination endoplasmic reticulum|Golgi stack ubiquitin-specific protease activity lung(2)|ovary(2)|central_nervous_system(1)|breast(1)|skin(1)|kidney(1) 8 Lung NSC(129;0.142)|all_lung(136;0.227) Epithelial(68;0.000771)|OV - Ovarian serous cystadenocarcinoma(28;0.00248)|all cancers(69;0.00296)|BRCA - Breast invasive adenocarcinoma(89;0.149) AGGCGATTATCCATTACTGCT 0.453 NA 30 233 0 0 0 0 DCAF4L2 138009 broad.mit.edu 37 8 88885717 88885717 + Silent SNP C C T TCGA-CR-6484-01A-11D-1870-08 TCGA-CR-6484-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e72df726-1575-4789-afac-3b15a7643401 b0fa7dd3-58da-45b8-bff4-1d665e21df9f g.chr8:88885717C>T uc003ydz.2 - 1 580 c.483G>A c.(481-483)GCG>GCA p.A161A NM_152418 NP_689631 Q8NA75 DC4L2_HUMAN WD repeat domain 21C 161 ovary(1) 1 TGAACAGCGACGCTGGGAGCA 0.567 NA 41 61 0 0 0 0 OSGIN2 734 broad.mit.edu 37 8 90937302 90937302 + Missense_Mutation SNP C C T TCGA-CR-6484-01A-11D-1870-08 TCGA-CR-6484-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e72df726-1575-4789-afac-3b15a7643401 b0fa7dd3-58da-45b8-bff4-1d665e21df9f g.chr8:90937302C>T uc003yeg.2 + 6 1406 c.1060C>T c.(1060-1062)CAT>TAT p.H354Y OSGIN2_uc003yeh.2_Missense_Mutation_p.H398Y NM_004337 NP_004328 Q9Y236 OSGI2_HUMAN oxidative stress induced growth inhibitor family 354 germ cell development|meiosis 0 BRCA - Breast invasive adenocarcinoma(11;0.0344) TCCTGAATATCATAAAGTCTA 0.368 NA 15 131 0 0 0 0 RGS22 26166 broad.mit.edu 37 8 100975155 100975155 + Missense_Mutation SNP G G C TCGA-CR-6484-01A-11D-1870-08 TCGA-CR-6484-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e72df726-1575-4789-afac-3b15a7643401 b0fa7dd3-58da-45b8-bff4-1d665e21df9f g.chr8:100975155G>C uc003yjb.1 - 25 3862 c.3667C>G c.(3667-3669)CTT>GTT p.L1223V RGS22_uc003yja.1_Missense_Mutation_p.L1042V|RGS22_uc003yjc.1_Missense_Mutation_p.L1211V NM_015668 NP_056483 Q8NE09 RGS22_HUMAN regulator of G-protein signaling 22 1223 negative regulation of signal transduction cytoplasm|plasma membrane GTPase activator activity|signal transducer activity ovary(3)|skin(2)|breast(1)|central_nervous_system(1) 7 Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169) ATCTTAAGAAGAATTCTCTCC 0.308 NA 4 35 0 0 0 0 FAM91A1 157769 broad.mit.edu 37 8 124801858 124801858 + Missense_Mutation SNP G G C TCGA-CR-6484-01A-11D-1870-08 TCGA-CR-6484-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e72df726-1575-4789-afac-3b15a7643401 b0fa7dd3-58da-45b8-bff4-1d665e21df9f g.chr8:124801858G>C uc003yqv.2 + 15 1345 c.1284G>C c.(1282-1284)CAG>CAC p.Q428H FAM91A1_uc011lik.1_Missense_Mutation_p.Q428H|FAM91A1_uc011lil.1_Missense_Mutation_p.Q186H NM_144963 NP_659400 Q658Y4 F91A1_HUMAN hypothetical protein LOC157769 428 ovary(1)|central_nervous_system(1) 2 Lung NSC(37;8.76e-13)|Ovarian(258;0.00744)|all_neural(195;0.0741) STAD - Stomach adenocarcinoma(47;0.00192) TTTAGGTTCAGAGCACTGGTG 0.333 NA 11 69 0 0 0 0 COL22A1 169044 broad.mit.edu 37 8 139890087 139890087 + Silent SNP G G A TCGA-CR-6484-01A-11D-1870-08 TCGA-CR-6484-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e72df726-1575-4789-afac-3b15a7643401 b0fa7dd3-58da-45b8-bff4-1d665e21df9f g.chr8:139890087G>A uc003yvd.2 - 3 1011 c.564C>T c.(562-564)ATC>ATT p.I188I NM_152888 NP_690848 Q8NFW1 COMA1_HUMAN collagen, type XXII, alpha 1 188 VWFA. cell adhesion collagen|cytoplasm structural molecule activity ovary(11)|pancreas(1)|skin(1) 13 all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0517) GCTCTGAGGCGATCTCCTCCA 0.652 NA HNSCC(7;0.00092) 6 34 0 0 0 0 C8orf31 286122 broad.mit.edu 37 8 144124445 144124445 + Silent SNP C C G TCGA-CR-6484-01A-11D-1870-08 TCGA-CR-6484-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e72df726-1575-4789-afac-3b15a7643401 b0fa7dd3-58da-45b8-bff4-1d665e21df9f g.chr8:144124445C>G uc003yxp.1 + 2 379 c.27C>G c.(25-27)TCC>TCG p.S9S C8orf31_uc003yxq.1_RNA|C8orf31_uc003yxr.1_Intron NM_173687 NP_775958 Q8N9H6 CH031_HUMAN hypothetical protein LOC286122 9 ovary(1) 1 all_cancers(97;1.89e-10)|all_epithelial(106;8.73e-09)|Lung NSC(106;0.000161)|all_lung(105;0.000447)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155) ACCAGAATTCCTGCAATTCAG 0.582 NA 11 116 0 0 0 0 C9orf66 157983 broad.mit.edu 37 9 214662 214662 + Silent SNP G G A TCGA-CR-6484-01A-11D-1870-08 TCGA-CR-6484-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e72df726-1575-4789-afac-3b15a7643401 b0fa7dd3-58da-45b8-bff4-1d665e21df9f g.chr9:214662G>A uc003zge.3 - 1 1232 c.735C>T c.(733-735)CTC>CTT p.L245L DOCK8_uc011lls.1_5'Flank|DOCK8_uc003zgf.2_5'Flank NM_152569 NP_689782 Q5T8R8 CI066_HUMAN hypothetical protein LOC157983 245 Arg-rich. central_nervous_system(1) 1 all_lung(41;0.218) all_cancers(5;2.09e-12)|all_epithelial(5;6.16e-09)|all_lung(10;1.15e-08)|Lung NSC(10;1.91e-08)|Acute lymphoblastic leukemia(5;0.00457)|all_hematologic(5;0.0332)|Breast(48;0.0646)|Prostate(43;0.137) Kidney(42;0.112)|KIRC - Kidney renal clear cell carcinoma(5;0.157) all cancers(5;0.000704)|Lung(218;0.00755)|GBM - Glioblastoma multiforme(5;0.0149)|Epithelial(6;0.0154) CCTTCGGCCGGAGGTCGGCGG 0.751 NA 3 4 0 0 0 0 GLDC 2731 broad.mit.edu 37 9 6605142 6605142 + Missense_Mutation SNP G G A TCGA-CR-6484-01A-11D-1870-08 TCGA-CR-6484-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e72df726-1575-4789-afac-3b15a7643401 b0fa7dd3-58da-45b8-bff4-1d665e21df9f g.chr9:6605142G>A uc003zkc.2 - 6 1043 c.850C>T c.(850-852)CAT>TAT p.H284Y NM_000170 NP_000161 P23378 GCSP_HUMAN glycine dehydrogenase (decarboxylating) 284 glycine catabolic process mitochondrion electron carrier activity|glycine dehydrogenase (decarboxylating) activity|lyase activity|pyridoxal phosphate binding ovary(2) 2 Acute lymphoblastic leukemia(23;0.161) GBM - Glioblastoma multiforme(50;0.0421)|Lung(218;0.134) Glycine(DB00145)|Pyridoxal Phosphate(DB00114) CCACTCTGATGAGCTCTCTCC 0.502 NA 12 56 0 0 0 0 C9orf150 286343 broad.mit.edu 37 9 12821469 12821469 + Missense_Mutation SNP G G C TCGA-CR-6484-01A-11D-1870-08 TCGA-CR-6484-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e72df726-1575-4789-afac-3b15a7643401 b0fa7dd3-58da-45b8-bff4-1d665e21df9f g.chr9:12821469G>C uc003zkw.2 + 2 1100 c.397G>C c.(397-399)GAA>CAA p.E133Q NM_203403 NP_981948 Q8IV03 CI150_HUMAN hypothetical protein LOC286343 136 0 GBM - Glioblastoma multiforme(1;1.64e-13) GTGGATGATCGAAGAAAAAGC 0.517 NA 16 69 0 0 0 0 SIGMAR1 10280 broad.mit.edu 37 9 34635701 34635701 + Missense_Mutation SNP G G C TCGA-CR-6484-01A-11D-1870-08 TCGA-CR-6484-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e72df726-1575-4789-afac-3b15a7643401 b0fa7dd3-58da-45b8-bff4-1d665e21df9f g.chr9:34635701G>C uc003zvb.2 - 4 674 c.600C>G c.(598-600)TTC>TTG p.F200L SIGMAR1_uc003zva.3_Missense_Mutation_p.F180L|SIGMAR1_uc003zuz.2_Missense_Mutation_p.F111L|SIGMAR1_uc003zvc.2_Missense_Mutation_p.F169L|SIGMAR1_uc003zvd.2_RNA|SIGMAR1_uc011loo.1_Intron NM_005866 NP_005857 Q99720 SGMR1_HUMAN sigma non-opioid intracellular receptor 1 200 Cytoplasmic (Potential). ergosterol biosynthetic process|lipid transport cell junction|endoplasmic reticulum membrane|growth cone|integral to plasma membrane|lipid particle|nuclear inner membrane|nuclear outer membrane C-8 sterol isomerase activity|drug binding 0 Dextromethorphan(DB00514) GAAGAGTATAGAAGAGGGTGA 0.622 NA 9 34 0 0 0 0 FBXO10 26267 broad.mit.edu 37 9 37512610 37512610 + Silent SNP C C T TCGA-CR-6484-01A-11D-1870-08 TCGA-CR-6484-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e72df726-1575-4789-afac-3b15a7643401 b0fa7dd3-58da-45b8-bff4-1d665e21df9f g.chr9:37512610C>T uc004aab.2 - 11 2854 c.2805G>A c.(2803-2805)ACG>ACA p.T935T FBXO10_uc004aac.2_Silent_p.T951T|FBXO10_uc004aad.2_Silent_p.T485T NM_012166 NP_036298 Q9UK96 FBX10_HUMAN F-box protein 10 935 ubiquitin ligase complex ubiquitin-protein ligase activity lung(5) 5 GBM - Glioblastoma multiforme(29;0.0107) CTGTGATCCTCGTTGCCATGG 0.607 NA 14 117 0 0 0 0 NAA35 60560 broad.mit.edu 37 9 88557141 88557141 + Missense_Mutation SNP G G C TCGA-CR-6484-01A-11D-1870-08 TCGA-CR-6484-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e72df726-1575-4789-afac-3b15a7643401 b0fa7dd3-58da-45b8-bff4-1d665e21df9f g.chr9:88557141G>C uc004aoi.3 + 2 204 c.67G>C c.(67-69)GAG>CAG p.E23Q NAA35_uc004aoj.3_Missense_Mutation_p.E23Q|NAA35_uc004aok.1_Missense_Mutation_p.E23Q NM_024635 NP_078911 Q5VZE5 NAA35_HUMAN corneal wound healing-related protein 23 smooth muscle cell proliferation cytoplasm|nucleus|plasma membrane skin(2)|central_nervous_system(1) 3 AGAAAAAATGGAGAAAAGCAA 0.398 NA 12 77 0 0 0 0 NCBP1 4686 broad.mit.edu 37 9 100412873 100412873 + Missense_Mutation SNP G G C TCGA-CR-6484-01A-11D-1870-08 TCGA-CR-6484-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e72df726-1575-4789-afac-3b15a7643401 b0fa7dd3-58da-45b8-bff4-1d665e21df9f g.chr9:100412873G>C uc004axq.2 + 9 1445 c.986G>C c.(985-987)AGG>ACG p.R329T NM_002486 NP_002477 Q09161 NCBP1_HUMAN nuclear cap binding protein subunit 1, 80kDa 329 gene silencing by RNA|histone mRNA metabolic process|mRNA 3'-end processing|mRNA capping|mRNA cleavage|mRNA export from nucleus|ncRNA metabolic process|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|positive regulation of mRNA 3'-end processing|positive regulation of viral transcription|regulation of translational initiation|spliceosomal snRNP assembly|termination of RNA polymerase II transcription|transcription elongation from RNA polymerase II promoter|viral reproduction cytosol|mRNA cap binding complex|nucleoplasm|ribonucleoprotein complex protein binding|RNA cap binding central_nervous_system(1) 1 Acute lymphoblastic leukemia(62;0.158) TGGAAGGAAAGGAAGACTTGG 0.378 NA 20 149 0 0 0 0 RABEPK 10244 broad.mit.edu 37 9 127982928 127982928 + Missense_Mutation SNP G G C TCGA-CR-6484-01A-11D-1870-08 TCGA-CR-6484-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e72df726-1575-4789-afac-3b15a7643401 b0fa7dd3-58da-45b8-bff4-1d665e21df9f g.chr9:127982928G>C uc004bpi.2 + 6 648 c.475G>C c.(475-477)GAG>CAG p.E159Q RABEPK_uc004bph.1_3'UTR|RABEPK_uc004bpj.2_Missense_Mutation_p.E108Q|RABEPK_uc004bpk.2_Missense_Mutation_p.E159Q|RABEPK_uc004bpl.1_Missense_Mutation_p.E108Q|RABEPK_uc004bpm.2_Missense_Mutation_p.E159Q NM_005833 NP_005824 Q7Z6M1 RABEK_HUMAN Rab9 effector protein with kelch motifs 159 Kelch 3. receptor-mediated endocytosis|vesicle docking involved in exocytosis endosome membrane|plasma membrane ovary(1) 1 TGGGGGCGGAGAGAGAGGTGC 0.587 NA 8 60 0 0 0 0 NUP214 8021 broad.mit.edu 37 9 134014764 134014764 + Missense_Mutation SNP G G T TCGA-CR-6484-01A-11D-1870-08 TCGA-CR-6484-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e72df726-1575-4789-afac-3b15a7643401 b0fa7dd3-58da-45b8-bff4-1d665e21df9f g.chr9:134014764G>T uc004cag.2 + 10 1213 c.1102G>T c.(1102-1104)GAC>TAC p.D368Y NUP214_uc004cah.2_Missense_Mutation_p.D368Y|NUP214_uc004caf.1_Missense_Mutation_p.D368Y NM_005085 NP_005076 P35658 NU214_HUMAN nucleoporin 214kDa 368 carbohydrate metabolic process|glucose transport|mRNA metabolic process|protein export from nucleus|regulation of glucose transport|transmembrane transport|viral reproduction cytosol|nuclear pore|nucleoplasm protein binding breast(7)|lung(3)|skin(3)|ovary(2)|central_nervous_system(1) 16 all_hematologic(7;0.0028) Myeloproliferative disorder(178;0.204) OV - Ovarian serous cystadenocarcinoma(145;3.42e-05)|Epithelial(140;0.000256) AGTTGTCGTAGACTATACAAA 0.418 NA T DEK|SET|ABL1 AML|T-ALL 10 41 9.31e-06 1e-05 1 0 C9orf163 158055 broad.mit.edu 37 9 139379468 139379468 + Missense_Mutation SNP C C A TCGA-CR-6484-01A-11D-1870-08 TCGA-CR-6484-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e72df726-1575-4789-afac-3b15a7643401 b0fa7dd3-58da-45b8-bff4-1d665e21df9f g.chr9:139379468C>A uc004chy.2 + 1 1522 c.568C>A c.(568-570)CTA>ATA p.L190I SEC16A_uc004chx.2_5'Flank|SEC16A_uc010nbo.1_5'Flank NM_152571 NP_689784 Q8N9P6 CI163_HUMAN hypothetical protein LOC158055 190 protein binding 0 Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;4.36e-06)|Epithelial(140;5.65e-06) GCTCGACCCTCTAGGGTCCTC 0.607 NA OREG0019617 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 6 17 3.6e-05 3.86e-05 1 0 TMEM203 94107 broad.mit.edu 37 9 140099678 140099678 + Silent SNP G G A TCGA-CR-6484-01A-11D-1870-08 TCGA-CR-6484-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e72df726-1575-4789-afac-3b15a7643401 b0fa7dd3-58da-45b8-bff4-1d665e21df9f g.chr9:140099678G>A uc004clv.2 - 1 413 c.189C>T c.(187-189)TTC>TTT p.F63F NDOR1_uc004clx.2_5'Flank|NDOR1_uc004clw.2_5'Flank|NDOR1_uc011mes.1_5'Flank|NDOR1_uc004cly.2_5'Flank NM_053045 NP_444273 Q969S6 TM203_HUMAN transmembrane protein 203 63 Helical; (Potential). integral to membrane 0 all_cancers(76;0.0926) STAD - Stomach adenocarcinoma(284;0.0698) OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.00057) CGATGGTGGTGAAGTAGGTGC 0.617 NA 4 21 0 0 0 0 NLGN4X 57502 broad.mit.edu 37 X 5821900 5821900 + Missense_Mutation SNP G G C TCGA-CR-6484-01A-11D-1870-08 TCGA-CR-6484-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e72df726-1575-4789-afac-3b15a7643401 b0fa7dd3-58da-45b8-bff4-1d665e21df9f g.chrX:5821900G>C uc010ndh.2 - 5 1320 c.819C>G c.(817-819)TTC>TTG p.F273L NLGN4X_uc004crp.2_Missense_Mutation_p.F293L|NLGN4X_uc004crq.2_Missense_Mutation_p.F273L|NLGN4X_uc010ndi.2_Missense_Mutation_p.F310L|NLGN4X_uc004crr.2_Missense_Mutation_p.F273L|NLGN4X_uc010ndj.2_Missense_Mutation_p.F273L NM_181332 NP_851849 Q8N0W4 NLGNX_HUMAN X-linked neuroligin 4 precursor 273 Extracellular (Potential). brainstem development|cell adhesion|cell-cell junction organization|cerebellum development|male courtship behavior|positive regulation of organ growth|regulation of excitatory postsynaptic membrane potential|social behavior|synapse assembly|territorial aggressive behavior|vocalization behavior cell surface|dendrite|integral to plasma membrane|synapse chloride ion binding|neurexin binding|protein homodimerization activity|receptor activity skin(2)|large_intestine(1)|ovary(1) 4 TGGCCTTCTGGAAGAGACCTG 0.527 NA 9 66 0 0 0 0 TBL1X 6907 broad.mit.edu 37 X 9683006 9683006 + Missense_Mutation SNP G G A TCGA-CR-6484-01A-11D-1870-08 TCGA-CR-6484-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e72df726-1575-4789-afac-3b15a7643401 b0fa7dd3-58da-45b8-bff4-1d665e21df9f g.chrX:9683006G>A uc010ndq.2 + 17 2038 c.1670G>A c.(1669-1671)CGA>CAA p.R557Q TBL1X_uc004csq.3_Missense_Mutation_p.R506Q|TBL1X_uc010ndr.2_Missense_Mutation_p.R506Q|TBL1X_uc004csr.2_Missense_Mutation_p.R557Q|TBL1X_uc004css.2_Missense_Mutation_p.R508Q NM_001139466 NP_001132938 O60907 TBL1X_HUMAN transducin beta-like 1X isoform a 557 WD 8. canonical Wnt receptor signaling pathway|cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|proteasomal ubiquitin-dependent protein catabolic process|sensory perception of sound|transcription, DNA-dependent spindle microtubule|transcriptional repressor complex beta-catenin binding|histone binding|protein C-terminus binding|protein domain specific binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding ovary(1) 1 Hepatocellular(5;0.000888) TGGAACGCCCGAGGAGACAAA 0.587 NA 8 29 0 0 0 0 OFD1 8481 broad.mit.edu 37 X 13778324 13778324 + Missense_Mutation SNP A A T TCGA-CR-6484-01A-11D-1870-08 TCGA-CR-6484-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e72df726-1575-4789-afac-3b15a7643401 b0fa7dd3-58da-45b8-bff4-1d665e21df9f g.chrX:13778324A>T uc004cvp.3 + 16 2104 c.1745A>T c.(1744-1746)AAT>ATT p.N582I OFD1_uc004cvr.3_Missense_Mutation_p.N149I|OFD1_uc011mil.1_Missense_Mutation_p.N149I|OFD1_uc004cvq.3_Missense_Mutation_p.N442I|OFD1_uc010nen.2_Missense_Mutation_p.N581I|OFD1_uc004cvs.3_RNA|OFD1_uc004cvu.3_Missense_Mutation_p.N541I|OFD1_uc004cvv.3_Missense_Mutation_p.N541I NM_003611 NP_003602 O75665 OFD1_HUMAN oral-facial-digital syndrome 1 582 cilium movement involved in determination of left/right asymmetry|G2/M transition of mitotic cell cycle centriole|cilium|cytosol|microtubule basal body|nuclear membrane alpha-tubulin binding|gamma-tubulin binding 0 GTGCCTTGCAATGGTGAGATA 0.423 NA 19 108 0 0 0 0 ACE2 59272 broad.mit.edu 37 X 15584408 15584408 + Missense_Mutation SNP G G C TCGA-CR-6484-01A-11D-1870-08 TCGA-CR-6484-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e72df726-1575-4789-afac-3b15a7643401 b0fa7dd3-58da-45b8-bff4-1d665e21df9f g.chrX:15584408G>C uc004cxa.1 - 16 2250 c.2082C>G c.(2080-2082)ATC>ATG p.I694M ACE2_uc004cxb.2_Missense_Mutation_p.I694M NM_021804 NP_068576 Q9BYF1 ACE2_HUMAN angiotensin I converting enzyme 2 precursor 694 Extracellular (Potential). angiotensin-mediated drinking behavior|proteolysis|receptor biosynthetic process|regulation of cell proliferation|virion attachment, binding of host cell surface receptor cell surface|extracellular space|integral to membrane|membrane raft|plasma membrane carboxypeptidase activity|glycoprotein binding|metallopeptidase activity|peptidyl-dipeptidase activity|viral receptor activity|zinc ion binding ovary(3) 3 Hepatocellular(33;0.183) Moexipril(DB00691) TTCTAGGAATGATATCAGACA 0.353 NA 34 171 0 0 0 0 HUWE1 10075 broad.mit.edu 37 X 53589797 53589797 + Missense_Mutation SNP C C T TCGA-CR-6484-01A-11D-1870-08 TCGA-CR-6484-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e72df726-1575-4789-afac-3b15a7643401 b0fa7dd3-58da-45b8-bff4-1d665e21df9f g.chrX:53589797C>T uc004dsp.2 - 53 7601 c.7199G>A c.(7198-7200)CGA>CAA p.R2400Q HUWE1_uc004dsn.2_Missense_Mutation_p.R1224Q NM_031407 NP_113584 Q7Z6Z7 HUWE1_HUMAN HECT, UBA and WWE domain containing 1 2400 Glu-rich. base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasm|nucleus DNA binding|protein binding|ubiquitin-protein ligase activity ovary(8)|large_intestine(4)|breast(4)|kidney(1) 17 CTCACCTTCTCGGTTGGCCTG 0.562 NA 17 84 0 0 0 0 WNK3 65267 broad.mit.edu 37 X 54321097 54321097 + Missense_Mutation SNP G G C TCGA-CR-6484-01A-11D-1870-08 TCGA-CR-6484-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e72df726-1575-4789-afac-3b15a7643401 b0fa7dd3-58da-45b8-bff4-1d665e21df9f g.chrX:54321097G>C uc004dtd.1 - 8 2021 c.1582C>G c.(1582-1584)CTT>GTT p.L528V WNK3_uc004dtc.1_Missense_Mutation_p.L528V NM_001002838 NP_001002838 Q9BYP7 WNK3_HUMAN WNK lysine deficient protein kinase 3 isoform 2 528 intracellular protein kinase cascade|positive regulation of establishment of protein localization in plasma membrane|positive regulation of peptidyl-threonine phosphorylation|positive regulation of rubidium ion transmembrane transporter activity|positive regulation of rubidium ion transport|positive regulation of sodium ion transmembrane transporter activity|positive regulation of sodium ion transport|protein autophosphorylation adherens junction|tight junction ATP binding|protein binding|protein serine/threonine kinase activity|rubidium ion transmembrane transporter activity|sodium ion transmembrane transporter activity lung(4)|ovary(3)|kidney(2)|central_nervous_system(2) 11 GCGGGAGCAAGGGGTAAAGTT 0.478 NA 9 38 0 0 0 0 ATP7A 538 broad.mit.edu 37 X 77301958 77301958 + Missense_Mutation SNP A A G TCGA-CR-6484-01A-11D-1870-08 TCGA-CR-6484-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e72df726-1575-4789-afac-3b15a7643401 b0fa7dd3-58da-45b8-bff4-1d665e21df9f g.chrX:77301958A>G uc004ecx.3 + 23 4554 c.4394A>G c.(4393-4395)AAC>AGC p.N1465S NM_000052 NP_000043 Q04656 ATP7A_HUMAN ATPase, Cu++ transporting, alpha polypeptide 1465 Cytoplasmic (Potential). ATP biosynthetic process|blood vessel development|blood vessel remodeling|cartilage development|cellular copper ion homeostasis|cerebellar Purkinje cell differentiation|collagen fibril organization|copper ion import|detoxification of copper ion|dopamine metabolic process|elastic fiber assembly|elastin biosynthetic process|epinephrine metabolic process|hair follicle morphogenesis|locomotory behavior|lung alveolus development|negative regulation of metalloenzyme activity|neuroprotection|peptidyl-lysine modification|pigmentation|positive regulation of metalloenzyme activity|positive regulation of oxidoreductase activity|pyramidal neuron development|regulation of oxidative phosphorylation|removal of superoxide radicals|serotonin metabolic process|skin development|T-helper cell differentiation|tryptophan metabolic process basolateral plasma membrane|cytosol|endoplasmic reticulum|endoplasmic reticulum|integral to membrane|late endosome|neuron projection|neuronal cell body|perinuclear region of cytoplasm|trans-Golgi network|trans-Golgi network transport vesicle ATP binding|copper-dependent protein binding|copper-exporting ATPase activity|superoxide dismutase copper chaperone activity 0 GCCTCTATAAACTCACTACTG 0.438 NA 60 239 0 0 0 0 CPXCR1 53336 broad.mit.edu 37 X 88008988 88008988 + Missense_Mutation SNP G G C TCGA-CR-6484-01A-11D-1870-08 TCGA-CR-6484-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e72df726-1575-4789-afac-3b15a7643401 b0fa7dd3-58da-45b8-bff4-1d665e21df9f g.chrX:88008988G>C uc004efd.3 + 3 832 c.573G>C c.(571-573)GAG>GAC p.E191D CPXCR1_uc004efc.3_Missense_Mutation_p.E191D NM_033048 NP_149037 Q8N123 CPXCR_HUMAN CPX chromosome region, candidate 1 191 intracellular zinc ion binding ovary(3) 3 CCCATCACGAGAGAGCCATAA 0.423 NA 5 37 0 0 0 0 PCDH11X 27328 broad.mit.edu 37 X 91134270 91134270 + Missense_Mutation SNP C C G TCGA-CR-6484-01A-11D-1870-08 TCGA-CR-6484-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e72df726-1575-4789-afac-3b15a7643401 b0fa7dd3-58da-45b8-bff4-1d665e21df9f g.chrX:91134270C>G uc004efk.1 + 2 3876 c.3031C>G c.(3031-3033)CCG>GCG p.P1011A PCDH11X_uc004efl.1_Missense_Mutation_p.P1011A|PCDH11X_uc004efo.1_Missense_Mutation_p.P1011A|PCDH11X_uc010nmv.1_Missense_Mutation_p.P1011A|PCDH11X_uc004efm.1_Missense_Mutation_p.P1011A|PCDH11X_uc004efn.1_Missense_Mutation_p.P1011A|PCDH11X_uc004efh.1_Missense_Mutation_p.P1011A|PCDH11X_uc004efj.1_Missense_Mutation_p.P1011A NM_032968 NP_116750 Q9BZA7 PC11X_HUMAN protocadherin 11 X-linked isoform c 1011 Cytoplasmic (Potential). homophilic cell adhesion integral to plasma membrane calcium ion binding large_intestine(2) 2 ACACACCAGACCGGTAGGTAT 0.403 NA 18 94 0 0 0 0 ARMCX2 9823 broad.mit.edu 37 X 100911437 100911437 + Missense_Mutation SNP C C G TCGA-CR-6484-01A-11D-1870-08 TCGA-CR-6484-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e72df726-1575-4789-afac-3b15a7643401 b0fa7dd3-58da-45b8-bff4-1d665e21df9f g.chrX:100911437C>G uc004eid.2 - 3 1493 c.1138G>C c.(1138-1140)GAT>CAT p.D380H ARMCX2_uc004eie.3_Missense_Mutation_p.D380H|ARMCX2_uc004eif.3_Missense_Mutation_p.D380H|ARMCX2_uc004eig.3_Missense_Mutation_p.D380H|ARMCX2_uc010nnt.2_Missense_Mutation_p.D380H NM_177949 NP_808818 Q7L311 ARMX2_HUMAN ALEX2 protein 380 ARM 1. integral to membrane binding ovary(6) 6 AGAATCTCATCAATTTCATAA 0.517 NA 17 79 0 0 0 0 R3HDML 140902 broad.mit.edu 37 20 42965898 42965898 + Frame_Shift_Del DEL C C - TCGA-CR-6484-01A-11D-1870-08 TCGA-CR-6484-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e72df726-1575-4789-afac-3b15a7643401 b0fa7dd3-58da-45b8-bff4-1d665e21df9f g.chr20:42965898delC uc002xls.1 + 1 273 c.101delC c.(100-102)GCCfs p.A34fs NM_178491 NP_848586 Q9H3Y0 CRSPL_HUMAN R3H domain containing-like precursor 34 extracellular region peptidase inhibitor activity 0 Myeloproliferative disorder(115;0.028) COAD - Colon adenocarcinoma(18;0.00189) CCAGCCCCGGCCCAGCCCGAG 0.647 NA 13 74 --- --- --- --- NA NA NA NA ZNF608 57507 broad.mit.edu 37 5 123984449 123984449 + Frame_Shift_Del DEL A A - TCGA-CR-6484-01A-11D-1870-08 TCGA-CR-6484-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e72df726-1575-4789-afac-3b15a7643401 b0fa7dd3-58da-45b8-bff4-1d665e21df9f g.chr5:123984449delA uc003ktq.1 - 4 1751 c.1628delT c.(1627-1629)TTGfs p.L543fs ZNF608_uc003ktr.1_Intron|ZNF608_uc003kts.1_Frame_Shift_Del_p.L543fs|ZNF608_uc003ktt.1_Frame_Shift_Del_p.L543fs NM_020747 NP_065798 Q9ULD9 ZN608_HUMAN zinc finger protein 608 543 intracellular zinc ion binding skin(3)|ovary(2)|lung(1) 6 all_cancers(142;0.186)|Prostate(80;0.081) KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221) OV - Ovarian serous cystadenocarcinoma(64;0.00126)|Epithelial(69;0.00238)|all cancers(49;0.00783) GCCTTGGTCCAAAAAAGTAGT 0.502 NA 7 191 --- --- --- --- NA NA NA NA