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 FBXO44 93611 broad.mit.edu 37 1 11718444 11718444 + Missense_Mutation SNP C C T TCGA-CN-5374-01A-01D-1434-08 TCGA-CN-5374-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 28d5a97b-3f3d-4595-9034-8491999fcf40 fc1114cb-d2aa-40d5-b507-ff3d97d7eab3 g.chr1:11718444C>T uc001asm.2 + 3 512 c.386C>T c.(385-387)TCA>TTA p.S129L FBXO44_uc001ask.2_Intron|FBXO44_uc010oaq.1_Missense_Mutation_p.S129L|FBXO44_uc001asl.2_Missense_Mutation_p.S129L|FBXO44_uc001asn.2_Intron|FBXO44_uc010oar.1_Intron|FBXO44_uc010oas.1_Intron NM_033182 NP_149438 Q9H4M3 FBX44_HUMAN F-box protein 44 isoform 1 129 FBA. protein catabolic process SCF ubiquitin ligase complex protein binding ovary(1) 1 Ovarian(185;0.249) Lung NSC(185;4.15e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.41e-06)|COAD - Colon adenocarcinoma(227;0.000255)|BRCA - Breast invasive adenocarcinoma(304;0.0003)|Kidney(185;0.000758)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00727)|READ - Rectum adenocarcinoma(331;0.0649) TTCGTTACTTCATATTAGTAA 0.527 NA 15 135 0 0 0 0 PRAMEF11 440560 broad.mit.edu 37 1 12887625 12887625 + Missense_Mutation SNP C C T TCGA-CN-5374-01A-01D-1434-08 TCGA-CN-5374-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 28d5a97b-3f3d-4595-9034-8491999fcf40 fc1114cb-d2aa-40d5-b507-ff3d97d7eab3 g.chr1:12887625C>T uc001auk.2 - 3 428 c.232G>A c.(232-234)GAA>AAA p.E78K NM_001146344 NP_001139816 O60813 PRA11_HUMAN PRAME family member 11 78 0 GCCATAGCTTCAGACCAAACC 0.473 NA 18 365 0 0 0 0 ECE1 1889 broad.mit.edu 37 1 21585219 21585219 + Silent SNP G G C TCGA-CN-5374-01A-01D-1434-08 TCGA-CN-5374-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 28d5a97b-3f3d-4595-9034-8491999fcf40 fc1114cb-d2aa-40d5-b507-ff3d97d7eab3 g.chr1:21585219G>C uc001bek.2 - 6 804 c.729C>G c.(727-729)GCC>GCG p.A243A ECE1_uc001bem.2_Silent_p.A227A|ECE1_uc001bej.2_Silent_p.A231A|ECE1_uc001bei.2_Silent_p.A240A|ECE1_uc010odl.1_Silent_p.A243A|ECE1_uc009vqa.1_Silent_p.A243A NM_001397 NP_001388 P42892 ECE1_HUMAN endothelin converting enzyme 1 isoform 1 243 Extracellular (Potential). bradykinin catabolic process|calcitonin catabolic process|ear development|embryonic digit morphogenesis|endothelin maturation|heart development|positive regulation of receptor recycling|substance P catabolic process early endosome|external side of plasma membrane|integral to membrane|intrinsic to endosome membrane|membrane fraction|perinuclear region of cytoplasm|plasma membrane|Weibel-Palade body metal ion binding|metalloendopeptidase activity|protein homodimerization activity ovary(2)|skin(1) 3 Lung NSC(340;1.14e-05)|all_lung(284;1.23e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00147)|Ovarian(437;0.00432)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0183)|OV - Ovarian serous cystadenocarcinoma(117;4.83e-27)|COAD - Colon adenocarcinoma(152;1.36e-06)|GBM - Glioblastoma multiforme(114;1.47e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000162)|STAD - Stomach adenocarcinoma(196;0.00326)|KIRC - Kidney renal clear cell carcinoma(1967;0.00755)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.206) TCTTGGAATCGGCACTGACAT 0.572 NA 8 115 0 0 0 0 TMEM200B 399474 broad.mit.edu 37 1 29447769 29447769 + Missense_Mutation SNP G G C TCGA-CN-5374-01A-01D-1434-08 TCGA-CN-5374-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 28d5a97b-3f3d-4595-9034-8491999fcf40 fc1114cb-d2aa-40d5-b507-ff3d97d7eab3 g.chr1:29447769G>C uc001brn.1 - 2 632 c.572C>G c.(571-573)CCG>CGG p.P191R NM_001003682 NP_001003682 Q69YZ2 T200B_HUMAN transmembrane protein 200B 191 Pro-rich. integral to membrane 0 Colorectal(325;3.46e-05)|Breast(348;0.00765)|Lung NSC(340;0.0153)|all_lung(284;0.0173)|all_neural(195;0.0199)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)|Medulloblastoma(700;0.123) Colorectal(126;7.32e-08)|COAD - Colon adenocarcinoma(152;4.92e-06)|STAD - Stomach adenocarcinoma(196;0.00618)|BRCA - Breast invasive adenocarcinoma(304;0.0501)|READ - Rectum adenocarcinoma(331;0.0649)|KIRC - Kidney renal clear cell carcinoma(1967;0.126) ACGCGGGGACGGGTCCCAGAT 0.692 NA 14 15 0 0 0 0 SPATA6 54558 broad.mit.edu 37 1 48918776 48918776 + Missense_Mutation SNP C C G TCGA-CN-5374-01A-01D-1434-08 TCGA-CN-5374-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 28d5a97b-3f3d-4595-9034-8491999fcf40 fc1114cb-d2aa-40d5-b507-ff3d97d7eab3 g.chr1:48918776C>G uc001crr.1 - 2 244 c.79G>C c.(79-81)GAC>CAC p.D27H SPATA6_uc001crs.1_Missense_Mutation_p.D27H|SPATA6_uc010omv.1_Missense_Mutation_p.D27H|SPATA6_uc001crt.2_5'UTR NM_019073 NP_061946 Q9NWH7 SPAT6_HUMAN spermatogenesis associated 6 precursor 27 cell differentiation|multicellular organismal development|spermatogenesis extracellular region ovary(1) 1 TCCTCTTTGTCTTTAAGCACG 0.388 NA 49 87 0 0 0 0 FUBP1 8880 broad.mit.edu 37 1 78428560 78428560 + Missense_Mutation SNP C C G TCGA-CN-5374-01A-01D-1434-08 TCGA-CN-5374-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 28d5a97b-3f3d-4595-9034-8491999fcf40 fc1114cb-d2aa-40d5-b507-ff3d97d7eab3 g.chr1:78428560C>G uc001dii.2 - 14 1328 c.1239G>C c.(1237-1239)CAG>CAC p.Q413H FUBP1_uc001dih.3_RNA|FUBP1_uc010orm.1_Missense_Mutation_p.Q434H NM_003902 NP_003893 Q96AE4 FUBP1_HUMAN far upstream element-binding protein 413 KH 4. transcription from RNA polymerase II promoter nucleus protein binding|RNA binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding central_nervous_system(2)|lung(1) 3 GAGGATTTCTCTGAAGTTCTA 0.383 NA 31 242 0 0 0 0 AGL 178 broad.mit.edu 37 1 100357191 100357191 + Silent SNP C C T TCGA-CN-5374-01A-01D-1434-08 TCGA-CN-5374-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 28d5a97b-3f3d-4595-9034-8491999fcf40 fc1114cb-d2aa-40d5-b507-ff3d97d7eab3 g.chr1:100357191C>T uc001dsi.1 + 23 3379 c.2979C>T c.(2977-2979)TTC>TTT p.F993F AGL_uc001dsj.1_Silent_p.F993F|AGL_uc001dsk.1_Silent_p.F993F|AGL_uc001dsl.1_Silent_p.F993F|AGL_uc001dsm.1_Silent_p.F977F|AGL_uc001dsn.1_Silent_p.F976F NM_000642 NP_000633 P35573 GDE_HUMAN amylo-1,6-glucosidase, 993 4-alpha-glucanotransferase. glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process cytosol|isoamylase complex|nucleus 4-alpha-glucanotransferase activity|amylo-alpha-1,6-glucosidase activity|cation binding ovary(1)|central_nervous_system(1)|skin(1) 3 all_epithelial(167;2.2e-06)|all_lung(203;0.000295)|Lung NSC(277;0.00131) Epithelial(280;0.15)|COAD - Colon adenocarcinoma(174;0.151)|Lung(183;0.209)|all cancers(265;0.237) CTATGTTCTTCTACCTGAAGC 0.363 NA 32 205 0 0 0 0 THBS3 7059 broad.mit.edu 37 1 155174872 155174872 + Silent SNP C C T TCGA-CN-5374-01A-01D-1434-08 TCGA-CN-5374-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 28d5a97b-3f3d-4595-9034-8491999fcf40 fc1114cb-d2aa-40d5-b507-ff3d97d7eab3 g.chr1:155174872C>T uc001fix.2 - 3 545 c.522G>A c.(520-522)CAG>CAA p.Q174Q RAG1AP1_uc010pey.1_Intron|THBS3_uc009wqi.2_Silent_p.Q174Q|THBS3_uc001fiz.2_Silent_p.Q174Q|THBS3_uc001fiy.2_5'UTR|THBS3_uc010pfu.1_Intron|THBS3_uc010pfv.1_Intron|THBS3_uc001fja.2_RNA|THBS3_uc009wqj.1_Silent_p.Q136Q NM_007112 NP_009043 P49746 TSP3_HUMAN thrombospondin 3 precursor 174 TSP N-terminal. cell-matrix adhesion extracellular region|perinuclear region of cytoplasm calcium ion binding|heparin binding|structural molecule activity breast(3)|ovary(2) 5 all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877) Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193) AATACGCCTTCTGTCCAGTCC 0.577 NA 21 43 0 0 0 0 FCRLA 84824 broad.mit.edu 37 1 161677126 161677126 + Missense_Mutation SNP G G A TCGA-CN-5374-01A-01D-1434-08 TCGA-CN-5374-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 28d5a97b-3f3d-4595-9034-8491999fcf40 fc1114cb-d2aa-40d5-b507-ff3d97d7eab3 g.chr1:161677126G>A uc001gbe.2 + 1 365 c.123G>A c.(121-123)ATG>ATA p.M41I FCRLA_uc001gbd.2_Missense_Mutation_p.M41I|FCRLA_uc001gbf.2_Missense_Mutation_p.M41I|FCRLA_uc001gbg.2_Missense_Mutation_p.M41I|FCRLA_uc009wuo.2_Missense_Mutation_p.M41I|FCRLA_uc009wup.2_Missense_Mutation_p.M41I|FCRLA_uc009wuq.2_Missense_Mutation_p.M41I NM_032738 NP_116127 Q7L513 FCRLA_HUMAN Fc receptor-like and mucin-like 1 24 cell differentiation cytoplasm|extracellular region 0 all_cancers(52;2.55e-15)|all_hematologic(112;0.0359) BRCA - Breast invasive adenocarcinoma(70;0.00301) TGGCCCAGATGCTACTGGGTA 0.502 NA 4 120 0 0 0 0 NCF2 4688 broad.mit.edu 37 1 183546795 183546795 + Missense_Mutation SNP C C G rs137854515 TCGA-CN-5374-01A-01D-1434-08 TCGA-CN-5374-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 28d5a97b-3f3d-4595-9034-8491999fcf40 fc1114cb-d2aa-40d5-b507-ff3d97d7eab3 g.chr1:183546795C>G uc001gqj.3 - 3 580 c.305G>C c.(304-306)CGA>CCA p.R102P NCF2_uc010pod.1_Missense_Mutation_p.R102P|NCF2_uc010poe.1_Missense_Mutation_p.R102P|NCF2_uc001gqk.3_Missense_Mutation_p.R102P NM_000433 NP_000424 P19878 NCF2_HUMAN neutrophil cytosolic factor 2 102 TPR 2. cellular defense response|innate immune response|respiratory burst|superoxide anion generation NADPH oxidase complex|nucleolus electron carrier activity|protein C-terminus binding ovary(3) 3 CTGGTTCCCTCGAAGCTGAAT 0.488 NA 24 181 0 0 0 0 CACNA1S 779 broad.mit.edu 37 1 201016272 201016272 + Missense_Mutation SNP G G A TCGA-CN-5374-01A-01D-1434-08 TCGA-CN-5374-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 28d5a97b-3f3d-4595-9034-8491999fcf40 fc1114cb-d2aa-40d5-b507-ff3d97d7eab3 g.chr1:201016272G>A uc001gvv.2 - 38 4866 c.4639C>T c.(4639-4641)CGG>TGG p.R1547W NM_000069 NP_000060 Q13698 CAC1S_HUMAN calcium channel, voltage-dependent, L type, 1547 Cytoplasmic (Potential). axon guidance I band|T-tubule|voltage-gated calcium channel complex high voltage-gated calcium channel activity ovary(3)|central_nervous_system(1)|skin(1) 5 Magnesium Sulfate(DB00653)|Verapamil(DB00661) TTCTTGGGCCGATAGCCATAA 0.517 NA 90 205 0 0 0 0 NAV1 89796 broad.mit.edu 37 1 201777960 201777960 + Missense_Mutation SNP G G A TCGA-CN-5374-01A-01D-1434-08 TCGA-CN-5374-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 28d5a97b-3f3d-4595-9034-8491999fcf40 fc1114cb-d2aa-40d5-b507-ff3d97d7eab3 g.chr1:201777960G>A uc001gwu.2 + 19 4506 c.4159G>A c.(4159-4161)GCA>ACA p.A1387T NAV1_uc001gwx.2_Missense_Mutation_p.A996T NM_020443 NP_065176 Q8NEY1 NAV1_HUMAN neuron navigator 1 1390 cell differentiation|nervous system development cytoplasm|microtubule nucleoside-triphosphatase activity|nucleotide binding central_nervous_system(3)|ovary(1) 4 CCTAGGCCTGGCACTCACCCA 0.562 NA 6 304 0 0 0 0 KCNH1 3756 broad.mit.edu 37 1 211192356 211192356 + Silent SNP G G A TCGA-CN-5374-01A-01D-1434-08 TCGA-CN-5374-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 28d5a97b-3f3d-4595-9034-8491999fcf40 fc1114cb-d2aa-40d5-b507-ff3d97d7eab3 g.chr1:211192356G>A uc001hib.2 - 6 971 c.801C>T c.(799-801)CTC>CTT p.L267L KCNH1_uc001hic.2_Silent_p.L267L NM_172362 NP_758872 O95259 KCNH1_HUMAN potassium voltage-gated channel, subfamily H, 267 Helical; Name=Segment S2; (Potential). myoblast fusion|regulation of transcription, DNA-dependent voltage-gated potassium channel complex calmodulin binding|delayed rectifier potassium channel activity|two-component sensor activity ovary(4)|central_nervous_system(1) 5 OV - Ovarian serous cystadenocarcinoma(81;0.0109)|all cancers(67;0.141)|Epithelial(68;0.185) TATGAAAATTGAGCACAATGT 0.453 NA 21 159 0 0 0 0 RYR2 6262 broad.mit.edu 37 1 237868594 237868594 + Silent SNP A A G TCGA-CN-5374-01A-01D-1434-08 TCGA-CN-5374-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 28d5a97b-3f3d-4595-9034-8491999fcf40 fc1114cb-d2aa-40d5-b507-ff3d97d7eab3 g.chr1:237868594A>G uc001hyl.1 + 67 9651 c.9531A>G c.(9529-9531)AAA>AAG p.K3177K RYR2_uc010pxz.1_Silent_p.K132K NM_001035 NP_001026 Q92736 RYR2_HUMAN cardiac muscle ryanodine receptor 3177 cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1) 33 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) ATCTGGACAAACATAATATTT 0.388 NA 16 17 0 0 0 0 GATA3 2625 broad.mit.edu 37 10 8115874 8115874 + Missense_Mutation SNP C C G TCGA-CN-5374-01A-01D-1434-08 TCGA-CN-5374-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 28d5a97b-3f3d-4595-9034-8491999fcf40 fc1114cb-d2aa-40d5-b507-ff3d97d7eab3 g.chr10:8115874C>G uc001ika.2 + 6 1777 c.1220C>G c.(1219-1221)TCG>TGG p.S407W GATA3_uc001ijz.2_Missense_Mutation_p.S408W NM_002051 NP_002042 P23771 GATA3_HUMAN GATA binding protein 3 isoform 2 407 aortic valve morphogenesis|blood coagulation|canonical Wnt receptor signaling pathway involved in metanephric kidney development|cardiac right ventricle morphogenesis|cell fate determination|cellular response to interferon-alpha|cellular response to interleukin-4|cellular response to tumor necrosis factor|defense response|ear development|lymphocyte migration|male gonad development|mesenchymal to epithelial transition|mesonephros development|negative regulation of cell cycle|negative regulation of cell motility|negative regulation of cell proliferation involved in mesonephros development|negative regulation of endothelial cell apoptosis|negative regulation of fat cell differentiation|negative regulation of fibroblast growth factor receptor signaling pathway involved in ureteric bud formation|negative regulation of glial cell-derived neurotrophic factor receptor signaling pathway involved in ureteric bud formation|negative regulation of inflammatory response|negative regulation of mammary gland epithelial cell proliferation|nephric duct formation|norepinephrine biosynthetic process|pharyngeal system development|phosphatidylinositol 3-kinase cascade|positive regulation of endothelial cell migration|positive regulation of interleukin-13 secretion|positive regulation of interleukin-4 production|positive regulation of interleukin-5 secretion|positive regulation of protein kinase B signaling cascade|positive regulation of T cell differentiation|positive regulation of thyroid hormone generation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription regulatory region DNA binding|positive regulation of ureteric bud formation|regulation of cellular response to X-ray|regulation of cytokine biosynthetic process|regulation of nephron tubule epithelial cell differentiation|response to estrogen stimulus|response to virus|sympathetic nervous system development|T cell receptor signaling pathway|TOR signaling cascade|ureteric bud formation|uterus development|ventricular septum development nuclear chromatin|nucleolus|nucleoplasm core promoter proximal region sequence-specific DNA binding|core promoter sequence-specific DNA binding|E-box binding|HMG box domain binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|transcription coactivator activity|transcription factor binding|zinc ion binding breast(17)|ovary(3)|central_nervous_system(2) 22 AGCCACATCTCGCCCTTCAGC 0.602 NA F|N|S breast HDR syndrome (HYPOPARATHYROIDISM|SENSORINEURAL DEAFNESS|AND RENAL DISEASE) 3 107 0 0 0 0 ARHGAP21 57584 broad.mit.edu 37 10 24884722 24884722 + Silent SNP T T C TCGA-CN-5374-01A-01D-1434-08 TCGA-CN-5374-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 28d5a97b-3f3d-4595-9034-8491999fcf40 fc1114cb-d2aa-40d5-b507-ff3d97d7eab3 g.chr10:24884722T>C uc001isb.2 - 19 4123 c.3636A>G c.(3634-3636)AAA>AAG p.K1212K ARHGAP21_uc010qdb.1_RNA NM_020824 NP_065875 Q5T5U3 RHG21_HUMAN Rho GTPase activating protein 21 1211 Rho-GAP. signal transduction cell junction|cytoplasmic vesicle membrane|cytoskeleton|Golgi membrane GTPase activator activity|protein binding ovary(7)|pancreas(1) 8 AATCTCGCCATTTCTAGGTGT 0.353 NA 17 71 0 0 0 0 SLC18A3 6572 broad.mit.edu 37 10 50819671 50819671 + Silent SNP C C T TCGA-CN-5374-01A-01D-1434-08 TCGA-CN-5374-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 28d5a97b-3f3d-4595-9034-8491999fcf40 fc1114cb-d2aa-40d5-b507-ff3d97d7eab3 g.chr10:50819671C>T uc001jhw.2 + 1 1325 c.885C>T c.(883-885)GCC>GCT p.A295A CHAT_uc001jhv.1_Intron|CHAT_uc001jhx.1_5'Flank|CHAT_uc001jhy.1_5'Flank|CHAT_uc001jia.2_5'Flank|CHAT_uc001jhz.2_5'Flank|CHAT_uc010qgs.1_5'Flank NM_003055 NP_003046 Q16572 VACHT_HUMAN vesicular acetylcholine transporter 295 Helical; (Potential). neurotransmitter secretion clathrin sculpted acetylcholine transport vesicle membrane|integral to plasma membrane|membrane fraction acetylcholine transmembrane transporter activity ovary(2) 2 CCGTGGTGGCCGGCGCGCTCA 0.642 NA 17 108 0 0 0 0 SGMS1 259230 broad.mit.edu 37 10 52071137 52071137 + Missense_Mutation SNP C C T TCGA-CN-5374-01A-01D-1434-08 TCGA-CN-5374-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 28d5a97b-3f3d-4595-9034-8491999fcf40 fc1114cb-d2aa-40d5-b507-ff3d97d7eab3 g.chr10:52071137C>T uc001jje.2 - 9 1734 c.780G>A c.(778-780)ATG>ATA p.M260I SGMS1_uc010qhk.1_Missense_Mutation_p.M91I|SGMS1_uc009xot.1_RNA NM_147156 NP_671512 Q86VZ5 SMS1_HUMAN sphingomyelin synthase 1 266 apoptosis|cell growth|sphingomyelin biosynthetic process endoplasmic reticulum|Golgi trans cisterna|integral to Golgi membrane|nucleus|plasma membrane ceramide cholinephosphotransferase activity|kinase activity|sphingomyelin synthase activity ovary(1)|kidney(1) 2 CAATGAGCTTCATTATTCTTC 0.463 NA 10 73 0 0 0 0 VCL 7414 broad.mit.edu 37 10 75874638 75874638 + Missense_Mutation SNP G G C TCGA-CN-5374-01A-01D-1434-08 TCGA-CN-5374-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 28d5a97b-3f3d-4595-9034-8491999fcf40 fc1114cb-d2aa-40d5-b507-ff3d97d7eab3 g.chr10:75874638G>C uc001jwd.2 + 21 3333 c.3239G>C c.(3238-3240)AGT>ACT p.S1080T VCL_uc009xrr.2_Missense_Mutation_p.S761T|VCL_uc001jwe.2_Missense_Mutation_p.S1012T|VCL_uc010qkz.1_Missense_Mutation_p.S273T NM_014000 NP_054706 P18206 VINC_HUMAN vinculin isoform meta-VCL 1080 C-terminal tail. adherens junction assembly|apical junction assembly|cell-matrix adhesion|cellular component movement|epithelial cell-cell adhesion|lamellipodium assembly|morphogenesis of an epithelium|muscle contraction|negative regulation of cell migration|platelet activation|platelet degranulation|protein localization at cell surface costamere|cytosol|extracellular region|focal adhesion actin binding|alpha-catenin binding|beta-catenin binding|beta-dystroglycan binding|cadherin binding|structural molecule activity VCL/ALK(4) kidney(4)|ovary(1)|central_nervous_system(1) 6 Prostate(51;0.0112) ACCAACATCAGTGATGAGGAG 0.483 NA 2 7 0 0 0 0 KIF11 3832 broad.mit.edu 37 10 94376578 94376578 + Missense_Mutation SNP G G A TCGA-CN-5374-01A-01D-1434-08 TCGA-CN-5374-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 28d5a97b-3f3d-4595-9034-8491999fcf40 fc1114cb-d2aa-40d5-b507-ff3d97d7eab3 g.chr10:94376578G>A uc001kic.2 + 9 1425 c.1117G>A c.(1117-1119)GCT>ACT p.A373T KIF11_uc010qnq.1_Intron NM_004523 NP_004514 P52732 KIF11_HUMAN kinesin family member 11 373 Potential. blood coagulation|cell division|microtubule-based movement|spindle assembly involved in mitosis chromatin remodeling complex|cytosol|kinesin complex|microtubule|spindle pole ATP binding|microtubule motor activity|protein kinase binding skin(1) 1 CACCAAAAAAGCTCTTATTAA 0.323 NA 16 89 0 0 0 0 PYROXD2 84795 broad.mit.edu 37 10 100167372 100167372 + Silent SNP C C T TCGA-CN-5374-01A-01D-1434-08 TCGA-CN-5374-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 28d5a97b-3f3d-4595-9034-8491999fcf40 fc1114cb-d2aa-40d5-b507-ff3d97d7eab3 g.chr10:100167372C>T uc001kpc.2 - 4 368 c.282G>A c.(280-282)CTG>CTA p.L94L PYROXD2_uc001kpb.2_RNA|PYROXD2_uc001kpd.2_RNA|PYROXD2_uc010qpe.1_Silent_p.L94L NM_032709 NP_116098 Q8N2H3 PYRD2_HUMAN pyridine nucleotide-disulphide oxidoreductase 94 oxidoreductase activity central_nervous_system(1) 1 TCTGCGGCCTCAGCAGGCTGA 0.607 NA 6 45 0 0 0 0 ATRNL1 26033 broad.mit.edu 37 10 116889158 116889158 + Silent SNP A A G TCGA-CN-5374-01A-01D-1434-08 TCGA-CN-5374-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 28d5a97b-3f3d-4595-9034-8491999fcf40 fc1114cb-d2aa-40d5-b507-ff3d97d7eab3 g.chr10:116889158A>G uc001lcg.2 + 5 1076 c.690A>G c.(688-690)CAA>CAG p.Q230Q ATRNL1_uc001lce.2_RNA|ATRNL1_uc001lcf.2_Silent_p.Q230Q|ATRNL1_uc009xyq.2_Silent_p.Q230Q NM_207303 NP_997186 Q5VV63 ATRN1_HUMAN attractin-like 1 precursor 230 EGF-like 2.|Extracellular (Potential). integral to membrane sugar binding ovary(5)|lung(1)|central_nervous_system(1) 7 all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234) Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827) TTCCAAGTCAAGTATATTGTG 0.373 NA 6 115 0 0 0 0 C10orf82 143379 broad.mit.edu 37 10 118425270 118425270 + Silent SNP G G T TCGA-CN-5374-01A-01D-1434-08 TCGA-CN-5374-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 28d5a97b-3f3d-4595-9034-8491999fcf40 fc1114cb-d2aa-40d5-b507-ff3d97d7eab3 g.chr10:118425270G>T uc001lcr.2 - 3 178 c.123C>A c.(121-123)ACC>ACA p.T41T C10orf82_uc001lcs.1_Silent_p.T41T NM_144661 NP_653262 Q8WW14 CJ082_HUMAN hypothetical protein LOC143379 41 0 all cancers(201;0.0143) TCTCCTGGAAGGTTTTCACAC 0.532 NA 11 103 0.00136819 0.0014251 1 0 IKZF5 64376 broad.mit.edu 37 10 124753991 124753991 + Silent SNP G G A TCGA-CN-5374-01A-01D-1434-08 TCGA-CN-5374-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 28d5a97b-3f3d-4595-9034-8491999fcf40 fc1114cb-d2aa-40d5-b507-ff3d97d7eab3 g.chr10:124753991G>A uc001lha.2 - 5 864 c.565C>T c.(565-567)CTG>TTG p.L189L IKZF5_uc001lgz.2_Silent_p.L27L NM_022466 NP_071911 Q9H5V7 IKZF5_HUMAN zinc finger protein, subfamily 1A, 5 189 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 all_neural(114;0.169)|Colorectal(57;0.178)|Glioma(114;0.222) Colorectal(40;0.0701)|COAD - Colon adenocarcinoma(40;0.0754) CTATAGCCCAGATTGCTTGTT 0.413 NA 43 279 0 0 0 0 DCHS1 8642 broad.mit.edu 37 11 6643167 6643167 + Missense_Mutation SNP G G A TCGA-CN-5374-01A-01D-1434-08 TCGA-CN-5374-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 28d5a97b-3f3d-4595-9034-8491999fcf40 fc1114cb-d2aa-40d5-b507-ff3d97d7eab3 g.chr11:6643167G>A uc001mem.1 - 21 10150 c.9740C>T c.(9739-9741)TCA>TTA p.S3247L TPP1_uc001mek.1_5'Flank|TPP1_uc001mel.1_5'Flank|TPP1_uc010rar.1_5'Flank NM_003737 NP_003728 Q96JQ0 PCD16_HUMAN dachsous 1 precursor 3247 Cytoplasmic (Potential). calcium-dependent cell-cell adhesion|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(3)|large_intestine(1)|pancreas(1) 5 Medulloblastoma(188;0.00263)|all_neural(188;0.026) Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) CATGGCAGCTGAGGACAGGGA 0.632 NA 8 20 0 0 0 0 NAV2 89797 broad.mit.edu 37 11 20067214 20067214 + Silent SNP C C A TCGA-CN-5374-01A-01D-1434-08 TCGA-CN-5374-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 28d5a97b-3f3d-4595-9034-8491999fcf40 fc1114cb-d2aa-40d5-b507-ff3d97d7eab3 g.chr11:20067214C>A uc010rdm.1 + 15 4330 c.3969C>A c.(3967-3969)CGC>CGA p.R1323R NAV2_uc001mpp.2_Silent_p.R1236R|NAV2_uc001mpr.3_Silent_p.R1300R|NAV2_uc001mpt.2_Silent_p.R386R|NAV2_uc009yhx.2_Silent_p.R386R|NAV2_uc009yhy.1_Silent_p.R299R NM_145117 NP_660093 Q8IVL1 NAV2_HUMAN neuron navigator 2 isoform 2 1323 nucleus ATP binding|helicase activity skin(4)|ovary(1)|pancreas(1) 6 CCACACTCCGCAGGTAAGTGA 0.517 NA 16 39 5.01e-05 5.32e-05 1 0 ANO3 63982 broad.mit.edu 37 11 26552873 26552873 + Missense_Mutation SNP C C T TCGA-CN-5374-01A-01D-1434-08 TCGA-CN-5374-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 28d5a97b-3f3d-4595-9034-8491999fcf40 fc1114cb-d2aa-40d5-b507-ff3d97d7eab3 g.chr11:26552873C>T uc001mqt.3 + 8 1004 c.859C>T c.(859-861)CGG>TGG p.R287W ANO3_uc010rdr.1_Missense_Mutation_p.R271W|ANO3_uc010rds.1_Missense_Mutation_p.R126W|ANO3_uc010rdt.1_Missense_Mutation_p.R141W NM_031418 NP_113606 Q9BYT9 ANO3_HUMAN transmembrane protein 16C 287 Cytoplasmic (Potential). chloride channel complex chloride channel activity ovary(2)|central_nervous_system(1)|pancreas(1) 4 CAGCCGTGCACGGATTCACCA 0.453 NA 4 180 0 0 0 0 TNKS1BP1 85456 broad.mit.edu 37 11 57080450 57080450 + Missense_Mutation SNP G G A TCGA-CN-5374-01A-01D-1434-08 TCGA-CN-5374-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 28d5a97b-3f3d-4595-9034-8491999fcf40 fc1114cb-d2aa-40d5-b507-ff3d97d7eab3 g.chr11:57080450G>A uc001njr.2 - 4 2024 c.1712C>T c.(1711-1713)CCC>CTC p.P571L TNKS1BP1_uc001njs.2_Missense_Mutation_p.P571L|TNKS1BP1_uc009ymd.1_Missense_Mutation_p.P22L NM_033396 NP_203754 Q9C0C2 TB182_HUMAN tankyrase 1-binding protein 1 571 Pro-rich.|Acidic. nuclear-transcribed mRNA poly(A) tail shortening|telomere maintenance via telomerase cytoskeleton|cytosol|nuclear telomeric heterochromatin ankyrin binding|enzyme binding skin(1) 1 all_epithelial(135;0.21) TGTAGGCAGGGGCTCAAGGGG 0.597 NA 21 74 0 0 0 0 CCDC87 55231 broad.mit.edu 37 11 66358149 66358149 + Missense_Mutation SNP C C G TCGA-CN-5374-01A-01D-1434-08 TCGA-CN-5374-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 28d5a97b-3f3d-4595-9034-8491999fcf40 fc1114cb-d2aa-40d5-b507-ff3d97d7eab3 g.chr11:66358149C>G uc001oiq.3 - 1 2406 c.2338G>C c.(2338-2340)GAG>CAG p.E780Q CCS_uc001oir.2_5'Flank NM_018219 NP_060689 Q9NVE4 CCD87_HUMAN coiled-coil domain containing 87 780 ovary(1)|skin(1) 2 AAAGAAGACTCCATTAAGTTG 0.498 NA 43 237 0 0 0 0 CCDC87 55231 broad.mit.edu 37 11 66358638 66358638 + Missense_Mutation SNP C C T TCGA-CN-5374-01A-01D-1434-08 TCGA-CN-5374-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 28d5a97b-3f3d-4595-9034-8491999fcf40 fc1114cb-d2aa-40d5-b507-ff3d97d7eab3 g.chr11:66358638C>T uc001oiq.3 - 1 1917 c.1849G>A c.(1849-1851)GAA>AAA p.E617K CCS_uc001oir.2_5'Flank NM_018219 NP_060689 Q9NVE4 CCD87_HUMAN coiled-coil domain containing 87 617 ovary(1)|skin(1) 2 ACCTCTTCTTCATGCATTTGA 0.468 NA 44 144 0 0 0 0 PC 5091 broad.mit.edu 37 11 66619400 66619400 + Missense_Mutation SNP C C T TCGA-CN-5374-01A-01D-1434-08 TCGA-CN-5374-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 28d5a97b-3f3d-4595-9034-8491999fcf40 fc1114cb-d2aa-40d5-b507-ff3d97d7eab3 g.chr11:66619400C>T uc001ojn.1 - 14 1892 c.1843G>A c.(1843-1845)GCC>ACC p.A615T PC_uc001ojo.1_Missense_Mutation_p.A615T|PC_uc001ojp.1_Missense_Mutation_p.A615T|PC_uc001ojm.1_5'Flank NM_022172 NP_071504 P11498 PYC_HUMAN pyruvate carboxylase precursor 615 Carboxyltransferase. gluconeogenesis|lipid biosynthetic process mitochondrial matrix ATP binding|biotin binding|biotin carboxylase activity|metal ion binding|pyruvate carboxylase activity ovary(2)|lung(1)|kidney(1) 4 Melanoma(852;0.0525) Lung(977;0.153)|LUSC - Lung squamous cell carcinoma(976;0.227) Biotin(DB00121)|Pyruvic acid(DB00119) AAGCGCATGGCGACGTCAAAC 0.637 NA 7 37 0 0 0 0 SUV420H1 51111 broad.mit.edu 37 11 67925239 67925239 + Missense_Mutation SNP C C G TCGA-CN-5374-01A-01D-1434-08 TCGA-CN-5374-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 28d5a97b-3f3d-4595-9034-8491999fcf40 fc1114cb-d2aa-40d5-b507-ff3d97d7eab3 g.chr11:67925239C>G uc001onm.1 - 11 2830 c.2574G>C c.(2572-2574)TTG>TTC p.L858F SUV420H1_uc009yse.1_Missense_Mutation_p.L444F|SUV420H1_uc001onn.1_Missense_Mutation_p.L686F|SUV420H1_uc009ysf.2_Missense_Mutation_p.L618F NM_017635 NP_060105 Q4FZB7 SV421_HUMAN suppressor of variegation 4-20 homolog 1 isoform 858 regulation of transcription, DNA-dependent|transcription, DNA-dependent protein binding ovary(2)|kidney(1) 3 CTATTAACCTCAAGCGCTTAG 0.403 NA 17 73 0 0 0 0 FUT4 2526 broad.mit.edu 37 11 94278550 94278550 + Silent SNP G G A TCGA-CN-5374-01A-01D-1434-08 TCGA-CN-5374-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 28d5a97b-3f3d-4595-9034-8491999fcf40 fc1114cb-d2aa-40d5-b507-ff3d97d7eab3 g.chr11:94278550G>A uc001pez.2 + 1 1534 c.1251G>A c.(1249-1251)CAG>CAA p.Q417Q PIWIL4_uc010rue.1_Intron|PIWIL4_uc009ywk.1_5'Flank NM_002033 NP_002024 P22083 FUT4_HUMAN fucosyltransferase 4 417 Lumenal (Potential). L-fucose catabolic process|protein glycosylation Golgi cisterna membrane|integral to membrane|membrane fraction alpha(1,3)-fucosyltransferase activity skin(1) 1 Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824) AGAACTCGCAGCACCTGGATT 0.652 NA 3 39 0 0 0 0 ZBTB16 7704 broad.mit.edu 37 11 114027138 114027138 + Missense_Mutation SNP C C T TCGA-CN-5374-01A-01D-1434-08 TCGA-CN-5374-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 28d5a97b-3f3d-4595-9034-8491999fcf40 fc1114cb-d2aa-40d5-b507-ff3d97d7eab3 g.chr11:114027138C>T uc001pop.2 + 3 1612 c.1348C>T c.(1348-1350)CAC>TAC p.H450Y ZBTB16_uc001poo.1_Missense_Mutation_p.H450Y|ZBTB16_uc001poq.2_Missense_Mutation_p.H450Y NM_006006 NP_005997 Q05516 ZBT16_HUMAN promyelocytic leukemia zinc finger protein 450 C2H2-type 2. apoptosis|central nervous system development|mesonephros development|myeloid cell differentiation|negative regulation of myeloid cell differentiation|negative regulation of transcription, DNA-dependent nuclear speck|PML body|transcriptional repressor complex protein homodimerization activity|zinc ion binding central_nervous_system(1)|skin(1) 2 all_cancers(61;3.79e-18)|all_epithelial(67;2.32e-10)|all_hematologic(158;2.96e-05)|Melanoma(852;0.000362)|Acute lymphoblastic leukemia(157;0.00108)|Breast(348;0.0104)|all_neural(223;0.0294)|Prostate(24;0.0318)|Medulloblastoma(222;0.0438) BRCA - Breast invasive adenocarcinoma(274;6.75e-06)|Epithelial(105;0.000181)|all cancers(92;0.0018) GCTGAGAATGCACTTACTGGC 0.547 NA 8 51 0 0 0 0 TECTA 7007 broad.mit.edu 37 11 120996298 120996298 + Missense_Mutation SNP G G C TCGA-CN-5374-01A-01D-1434-08 TCGA-CN-5374-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 28d5a97b-3f3d-4595-9034-8491999fcf40 fc1114cb-d2aa-40d5-b507-ff3d97d7eab3 g.chr11:120996298G>C uc010rzo.1 + 7 1491 c.1491G>C c.(1489-1491)TGG>TGC p.W497C NM_005422 NP_005413 O75443 TECTA_HUMAN tectorin alpha precursor 497 VWFD 1. cell-matrix adhesion|sensory perception of sound anchored to membrane|plasma membrane|proteinaceous extracellular matrix breast(6)|ovary(2)|skin(2) 10 all_hematologic(175;0.208) Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166) ACGCAGACTGGAAGTGCGACT 0.587 NA 30 96 0 0 0 0 NRIP2 83714 broad.mit.edu 37 12 2939891 2939891 + Missense_Mutation SNP G G A TCGA-CN-5374-01A-01D-1434-08 TCGA-CN-5374-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 28d5a97b-3f3d-4595-9034-8491999fcf40 fc1114cb-d2aa-40d5-b507-ff3d97d7eab3 g.chr12:2939891G>A uc001qlc.2 - 2 550 c.478C>T c.(478-480)CTT>TTT p.L160F NRIP2_uc010sed.1_Missense_Mutation_p.L160F NM_031474 NP_113662 Q9BQI9 NRIP2_HUMAN nuclear receptor interacting protein 2 160 proteolysis|transcription, DNA-dependent cytoplasm|nucleus aspartic-type endopeptidase activity ovary(1) 1 OV - Ovarian serous cystadenocarcinoma(31;0.000818) TTGACCAGAAGAGCTGGAATC 0.572 NA 32 62 0 0 0 0 CLEC4C 170482 broad.mit.edu 37 12 7883477 7883477 + Missense_Mutation SNP G G T TCGA-CN-5374-01A-01D-1434-08 TCGA-CN-5374-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 28d5a97b-3f3d-4595-9034-8491999fcf40 fc1114cb-d2aa-40d5-b507-ff3d97d7eab3 g.chr12:7883477G>T uc001qtg.1 - 5 587 c.413C>A c.(412-414)TCT>TAT p.S138Y CLEC4C_uc001qth.1_Missense_Mutation_p.S138Y|CLEC4C_uc001qti.1_Missense_Mutation_p.S107Y NM_130441 NP_569708 Q8WTT0 CLC4C_HUMAN C-type lectin domain family 4, member C isoform 138 Extracellular (Potential).|C-type lectin. innate immune response integral to membrane sugar binding ovary(2)|skin(1) 3 Kidney(36;0.0915) AAAATAAGAAGAATTTCTTTT 0.343 NA 52 106 2.17e-26 2.47e-26 1 0 TMEM106C 79022 broad.mit.edu 37 12 48359698 48359698 + Missense_Mutation SNP C C T TCGA-CN-5374-01A-01D-1434-08 TCGA-CN-5374-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 28d5a97b-3f3d-4595-9034-8491999fcf40 fc1114cb-d2aa-40d5-b507-ff3d97d7eab3 g.chr12:48359698C>T uc001rqp.2 + 4 444 c.329C>T c.(328-330)TCA>TTA p.S110L TMEM106C_uc001rqo.2_Missense_Mutation_p.S110L|TMEM106C_uc001rqr.2_Missense_Mutation_p.S110L|TMEM106C_uc001rqq.2_Missense_Mutation_p.S110L NM_024056 NP_076961 Q9BVX2 T106C_HUMAN transmembrane protein 106C isoform a 110 endoplasmic reticulum membrane|integral to membrane 0 Acute lymphoblastic leukemia(13;0.11) GBM - Glioblastoma multiforme(48;0.241) TTTCCGCATTCAGTCCTTGTG 0.448 NA 200 368 0 0 0 0 COL2A1 1280 broad.mit.edu 37 12 48388219 48388219 + Silent SNP C C T TCGA-CN-5374-01A-01D-1434-08 TCGA-CN-5374-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 28d5a97b-3f3d-4595-9034-8491999fcf40 fc1114cb-d2aa-40d5-b507-ff3d97d7eab3 g.chr12:48388219C>T uc001rqu.2 - 12 985 c.804G>A c.(802-804)CCG>CCA p.P268P COL2A1_uc001rqv.2_Silent_p.P199P NM_001844 NP_001835 P02458 CO2A1_HUMAN collagen, type II, alpha 1 isoform 1 precursor 268 Triple-helical region. axon guidance|collagen fibril organization|embryonic skeletal joint morphogenesis|sensory perception of sound|visual perception collagen type II identical protein binding|platelet-derived growth factor binding ovary(1)|skin(1) 2 Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214) Collagenase(DB00048) GAGGACCAGGCGGACCCCTTT 0.557 NA 16 53 0 0 0 0 ANO4 121601 broad.mit.edu 37 12 101493406 101493406 + Missense_Mutation SNP C C A TCGA-CN-5374-01A-01D-1434-08 TCGA-CN-5374-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 28d5a97b-3f3d-4595-9034-8491999fcf40 fc1114cb-d2aa-40d5-b507-ff3d97d7eab3 g.chr12:101493406C>A uc010svm.1 + 22 2629 c.2057C>A c.(2056-2058)CCT>CAT p.P686H ANO4_uc001thw.2_Missense_Mutation_p.P651H|ANO4_uc001thx.2_Missense_Mutation_p.P686H|ANO4_uc001thy.2_Missense_Mutation_p.P206H NM_178826 NP_849148 Q32M45 ANO4_HUMAN anoctamin 4 686 Cytoplasmic (Potential). chloride channel complex chloride channel activity ovary(4)|skin(2) 6 GAACATGGACCTGAAAGGAAA 0.363 NA HNSCC(74;0.22) 48 84 2.13e-23 2.42e-23 1 0 NAA25 80018 broad.mit.edu 37 12 112492280 112492280 + Nonsense_Mutation SNP G G A TCGA-CN-5374-01A-01D-1434-08 TCGA-CN-5374-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 28d5a97b-3f3d-4595-9034-8491999fcf40 fc1114cb-d2aa-40d5-b507-ff3d97d7eab3 g.chr12:112492280G>A uc001ttm.2 - 14 1560 c.1540C>T c.(1540-1542)CGA>TGA p.R514* NAA25_uc001ttn.3_RNA|NAA25_uc009zvz.1_Nonsense_Mutation_p.R486*|NAA25_uc009zwa.1_Nonsense_Mutation_p.R514* NM_024953 NP_079229 Q14CX7 NAA25_HUMAN mitochondrial distribution and morphology 20 514 cytoplasm protein binding ovary(1)|breast(1)|pancreas(1) 3 CAGTAGATTCGAACAAGCAGC 0.478 NA 21 86 0 0 0 0 OAS2 4939 broad.mit.edu 37 12 113445710 113445710 + Silent SNP C C T rs45514594 byFrequency TCGA-CN-5374-01A-01D-1434-08 TCGA-CN-5374-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 28d5a97b-3f3d-4595-9034-8491999fcf40 fc1114cb-d2aa-40d5-b507-ff3d97d7eab3 g.chr12:113445710C>T uc001tuj.2 + 9 1997 c.1857C>T c.(1855-1857)ACC>ACT p.T619T OAS2_uc001tui.1_Silent_p.T619T NM_016817 NP_058197 P29728 OAS2_HUMAN 2'-5'-oligoadenylate synthetase 2 isoform 1 619 OAS domain 2. interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway endoplasmic reticulum|membrane|microsome|mitochondrion|nucleus ATP binding|nucleotidyltransferase activity|RNA binding ovary(1) 1 AAGATGAGACCGTGAGGAAGT 0.483 NA 5 322 0 0 0 0 GATC 283459 broad.mit.edu 37 12 120884532 120884532 + Missense_Mutation SNP G G A TCGA-CN-5374-01A-01D-1434-08 TCGA-CN-5374-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 28d5a97b-3f3d-4595-9034-8491999fcf40 fc1114cb-d2aa-40d5-b507-ff3d97d7eab3 g.chr12:120884532G>A uc010szi.1 + 2 154 c.154G>A c.(154-156)GAG>AAG p.E52K TRIAP1_uc001tyg.2_5'Flank NM_176818 NP_789788 O43716 GATCL_HUMAN glutamyl-tRNA(Gln) amidotransferase, subunit C 52 regulation of translational fidelity 0 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) CGGCAGCCGCGAGGCAGTGGC 0.672 NA 16 38 0 0 0 0 GPR133 283383 broad.mit.edu 37 12 131593382 131593382 + Silent SNP G G A rs60880996 byFrequency TCGA-CN-5374-01A-01D-1434-08 TCGA-CN-5374-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 28d5a97b-3f3d-4595-9034-8491999fcf40 fc1114cb-d2aa-40d5-b507-ff3d97d7eab3 g.chr12:131593382G>A uc001uit.3 + 18 2560 c.2001G>A c.(1999-2001)TCG>TCA p.S667S GPR133_uc010tbm.1_Silent_p.S699S|GPR133_uc009zyo.2_Intron|GPR133_uc001uiv.1_Silent_p.S186S|GPR133_uc009zyp.2_RNA NM_198827 NP_942122 Q6QNK2 GP133_HUMAN G protein-coupled receptor 133 precursor 667 Cytoplasmic (Potential). neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity pancreas(5)|ovary(3)|skin(2) 10 all_neural(191;0.0982)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06) TCTTTGGGTCGGAGGACAGCA 0.348 NA 73 141 0 0 0 0 CARS2 79587 broad.mit.edu 37 13 111340150 111340150 + Silent SNP C C T TCGA-CN-5374-01A-01D-1434-08 TCGA-CN-5374-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 28d5a97b-3f3d-4595-9034-8491999fcf40 fc1114cb-d2aa-40d5-b507-ff3d97d7eab3 g.chr13:111340150C>T uc001vrd.2 - 5 529 c.489G>A c.(487-489)CTG>CTA p.L163L CARS2_uc010tjm.1_RNA NM_024537 NP_078813 Q9HA77 SYCM_HUMAN cysteinyl-tRNA synthetase 2, mitochondrial 163 cysteinyl-tRNA aminoacylation cytosol|mitochondrial matrix ATP binding|cysteine-tRNA ligase activity|metal ion binding 0 all_lung(23;3.61e-05)|Lung NSC(43;0.00144)|Lung SC(71;0.0753)|all_neural(89;0.077)|Medulloblastoma(90;0.148) BRCA - Breast invasive adenocarcinoma(86;0.163) L-Cysteine(DB00151) CGGTTACCCTCAGGTACACCG 0.478 NA 42 176 0 0 0 0 OR4E2 26686 broad.mit.edu 37 14 22133750 22133750 + Missense_Mutation SNP G G A TCGA-CN-5374-01A-01D-1434-08 TCGA-CN-5374-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 28d5a97b-3f3d-4595-9034-8491999fcf40 fc1114cb-d2aa-40d5-b507-ff3d97d7eab3 g.chr14:22133750G>A uc010tmd.1 + 1 454 c.454G>A c.(454-456)GGT>AGT p.G152S NM_001001912 NP_001001912 Q8NGC2 OR4E2_HUMAN olfactory receptor, family 4, subfamily E, 152 Helical; Name=4; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|pancreas(1)|skin(1) 4 all_cancers(95;0.00113) Acute lymphoblastic leukemia(2;0.0279) GBM - Glioblastoma multiforme(265;0.0137) CTGGTTGGGGGGTACTGTTCA 0.478 NA 35 219 0 0 0 0 PRMT5 10419 broad.mit.edu 37 14 23395383 23395383 + Missense_Mutation SNP G G A TCGA-CN-5374-01A-01D-1434-08 TCGA-CN-5374-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 28d5a97b-3f3d-4595-9034-8491999fcf40 fc1114cb-d2aa-40d5-b507-ff3d97d7eab3 g.chr14:23395383G>A uc001whm.1 - 7 827 c.736C>T c.(736-738)CTT>TTT p.L246F PRMT5_uc001whl.1_Missense_Mutation_p.L229F|PRMT5_uc010akd.1_RNA|PRMT5_uc010tnf.1_Missense_Mutation_p.L140F|PRMT5_uc010tng.1_Missense_Mutation_p.L185F|PRMT5_uc010tnh.1_Missense_Mutation_p.L202F|PRMT5_uc001whn.1_Intron NM_006109 NP_006100 O14744 ANM5_HUMAN protein arginine methyltransferase 5 isoform a 246 cell proliferation|histone H4-R3 methylation|ncRNA metabolic process|regulation of mitosis|spliceosomal snRNP assembly|transcription, DNA-dependent cytosol|nucleus histone-arginine N-methyltransferase activity|protein binding|protein-arginine omega-N symmetric methyltransferase activity|ribonucleoprotein binding ovary(1) 1 all_cancers(95;2.76e-05) GBM - Glioblastoma multiforme(265;0.0126) ATCTTAGAAAGAACAGGAAAT 0.478 NA 49 133 0 0 0 0 MYH6 4624 broad.mit.edu 37 14 23858700 23858700 + Missense_Mutation SNP C C T TCGA-CN-5374-01A-01D-1434-08 TCGA-CN-5374-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 28d5a97b-3f3d-4595-9034-8491999fcf40 fc1114cb-d2aa-40d5-b507-ff3d97d7eab3 g.chr14:23858700C>T uc001wjv.2 - 28 3947 c.3880G>A c.(3880-3882)GAG>AAG p.E1294K uc010tnn.1_5'Flank|MIR208A_hsa-mir-208a|MI0000251_5'Flank NM_002471 NP_002462 P13533 MYH6_HUMAN myosin heavy chain 6 1294 Potential. adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle pancreas(2)|ovary(1)|skin(1) 4 all_cancers(95;2.54e-05) GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441) TCCTTTTCCTCTAGCTGCCGG 0.587 NA 9 159 0 0 0 0 CMA1 1215 broad.mit.edu 37 14 24976609 24976609 + Missense_Mutation SNP G G C TCGA-CN-5374-01A-01D-1434-08 TCGA-CN-5374-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 28d5a97b-3f3d-4595-9034-8491999fcf40 fc1114cb-d2aa-40d5-b507-ff3d97d7eab3 g.chr14:24976609G>C uc001wpp.1 - 2 192 c.162C>G c.(160-162)TTC>TTG p.F54L CMA1_uc010alx.1_Intron NM_001836 NP_001827 P23946 CMA1_HUMAN chymase 1, mast cell preproprotein 54 Peptidase S1. interleukin-1 beta biosynthetic process|proteolysis extracellular region serine-type endopeptidase activity 0 GBM - Glioblastoma multiforme(265;0.0271) GTCTTATAAGGAAACCACCAC 0.483 NA 58 273 0 0 0 0 DAAM1 23002 broad.mit.edu 37 14 59819342 59819342 + Missense_Mutation SNP G G C TCGA-CN-5374-01A-01D-1434-08 TCGA-CN-5374-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 28d5a97b-3f3d-4595-9034-8491999fcf40 fc1114cb-d2aa-40d5-b507-ff3d97d7eab3 g.chr14:59819342G>C uc001xdz.1 + 19 2414 c.2289G>C c.(2287-2289)GAG>GAC p.E763D DAAM1_uc001xea.1_Missense_Mutation_p.E753D|DAAM1_uc001xec.1_5'Flank NM_014992 NP_055807 Q9Y4D1 DAAM1_HUMAN dishevelled-associated activator of 763 FH2. actin cytoskeleton organization cytoplasm|plasma membrane actin binding|Rho GTPase binding ovary(1) 1 OV - Ovarian serous cystadenocarcinoma(108;0.165) TCCTTTTTGAGATGAGCCGGT 0.398 NA 15 46 0 0 0 0 ACTC1 70 broad.mit.edu 37 15 35086908 35086908 + Silent SNP C C A TCGA-CN-5374-01A-01D-1434-08 TCGA-CN-5374-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 28d5a97b-3f3d-4595-9034-8491999fcf40 fc1114cb-d2aa-40d5-b507-ff3d97d7eab3 g.chr15:35086908C>A uc001ziu.1 - 2 345 c.102G>T c.(100-102)CCG>CCT p.P34P uc001zit.1_Intron NM_005159 NP_005150 P68032 ACTC_HUMAN cardiac muscle alpha actin 1 proprotein 34 apoptosis|cardiac muscle tissue morphogenesis|cardiac myofibril assembly|muscle filament sliding|skeletal muscle thin filament assembly actomyosin, actin part|cytosol|I band ATP binding|ATPase activity|myosin binding upper_aerodigestive_tract(1)|ovary(1) 2 all_lung(180;2.3e-08) all cancers(64;5.83e-19)|GBM - Glioblastoma multiforme(113;1.98e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0244) CCACGATGGACGGGAAGACAG 0.682 NA 20 82 3.52e-12 3.92e-12 1 0 DUOX1 53905 broad.mit.edu 37 15 45426426 45426426 + Nonsense_Mutation SNP C C T TCGA-CN-5374-01A-01D-1434-08 TCGA-CN-5374-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 28d5a97b-3f3d-4595-9034-8491999fcf40 fc1114cb-d2aa-40d5-b507-ff3d97d7eab3 g.chr15:45426426C>T uc001zus.1 + 5 572 c.226C>T c.(226-228)CGA>TGA p.R76* DUOX1_uc001zut.1_Nonsense_Mutation_p.R76*|DUOX1_uc010bee.1_5'UTR NM_017434 NP_059130 Q9NRD9 DUOX1_HUMAN dual oxidase 1 precursor 76 Peroxidase-like; mediates peroxidase activity.|Extracellular (Potential). cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|superoxide anion generation apical plasma membrane|integral to membrane calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|NADP binding|peroxidase activity ovary(5)|skin(2)|breast(1) 8 all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027) all cancers(107;5.77e-18)|GBM - Glioblastoma multiforme(94;5.11e-07)|COAD - Colon adenocarcinoma(120;0.071)|Colorectal(133;0.0717) GCCCAACCCCCGAGACCTTAG 0.627 NA 18 144 0 0 0 0 UNC13C 440279 broad.mit.edu 37 15 54306794 54306794 + Missense_Mutation SNP C C T TCGA-CN-5374-01A-01D-1434-08 TCGA-CN-5374-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 28d5a97b-3f3d-4595-9034-8491999fcf40 fc1114cb-d2aa-40d5-b507-ff3d97d7eab3 g.chr15:54306794C>T uc002ack.2 + 1 1694 c.1694C>T c.(1693-1695)TCA>TTA p.S565L NM_001080534 NP_001074003 Q8NB66 UN13C_HUMAN unc-13 homolog C 565 exocytosis|intracellular signal transduction cell junction|cytoplasm|presynaptic membrane metal ion binding ovary(5)|pancreas(2) 7 GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124) GAAGATTTTTCAGAAAATCAG 0.423 NA 9 74 0 0 0 0 AAGAB 79719 broad.mit.edu 37 15 67528335 67528335 + Missense_Mutation SNP C C T TCGA-CN-5374-01A-01D-1434-08 TCGA-CN-5374-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 28d5a97b-3f3d-4595-9034-8491999fcf40 fc1114cb-d2aa-40d5-b507-ff3d97d7eab3 g.chr15:67528335C>T uc002aqk.3 - 4 538 c.433G>A c.(433-435)GAG>AAG p.E145K AAGAB_uc002aql.2_Missense_Mutation_p.E36K|AAGAB_uc010uju.1_Missense_Mutation_p.E36K NM_024666 NP_078942 Q6PD74 AAGAB_HUMAN alpha- and gamma-adaptin-binding protein p34 145 protein transport cytoplasm 0 TCAGGCAACTCCTCTGGACTA 0.353 NA 40 236 0 0 0 0 MEX3B 84206 broad.mit.edu 37 15 82336383 82336383 + Silent SNP G G A TCGA-CN-5374-01A-01D-1434-08 TCGA-CN-5374-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 28d5a97b-3f3d-4595-9034-8491999fcf40 fc1114cb-d2aa-40d5-b507-ff3d97d7eab3 g.chr15:82336383G>A uc002bgq.1 - 2 1143 c.828C>T c.(826-828)CCC>CCT p.P276P NM_032246 NP_115622 Q6ZN04 MEX3B_HUMAN mex-3 homolog B 276 protein autophosphorylation cytoplasmic mRNA processing body|nucleus calcium ion binding|RNA binding|zinc ion binding breast(1)|kidney(1) 2 GCTTGCGGCCGGGGGTGGGCG 0.662 NA 10 46 0 0 0 0 ALPK3 57538 broad.mit.edu 37 15 85400161 85400161 + Missense_Mutation SNP G G A TCGA-CN-5374-01A-01D-1434-08 TCGA-CN-5374-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 28d5a97b-3f3d-4595-9034-8491999fcf40 fc1114cb-d2aa-40d5-b507-ff3d97d7eab3 g.chr15:85400161G>A uc002ble.2 + 6 2965 c.2798G>A c.(2797-2799)AGC>AAC p.S933N NM_020778 NP_065829 Q96L96 ALPK3_HUMAN alpha-kinase 3 933 heart development nucleus ATP binding|protein serine/threonine kinase activity stomach(3)|ovary(3)|lung(2)|skin(2)|central_nervous_system(1)|breast(1) 12 BRCA - Breast invasive adenocarcinoma(143;0.0587) GTGGCAACCAGCCTCGGCCCA 0.582 NA 27 158 0 0 0 0 HAGH 3029 broad.mit.edu 37 16 1859322 1859322 + Missense_Mutation SNP G G A TCGA-CN-5374-01A-01D-1434-08 TCGA-CN-5374-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 28d5a97b-3f3d-4595-9034-8491999fcf40 fc1114cb-d2aa-40d5-b507-ff3d97d7eab3 g.chr16:1859322G>A uc002cna.2 - 9 1296 c.889C>T c.(889-891)CGC>TGC p.R297C HAGH_uc002cmz.2_Missense_Mutation_p.R249C|HAGH_uc010uvp.1_3'UTR|HAGH_uc002cnb.1_3'UTR NM_005326 NP_005317 Q16775 GLO2_HUMAN hydroxyacylglutathione hydrolase isoform 1 297 Substrate. glutathione biosynthetic process cytoplasm|mitochondrial matrix|mitochondrial matrix hydroxyacylglutathione hydrolase activity|zinc ion binding ovary(1) 1 Hepatocellular(780;0.00335) Glutathione(DB00143) TTCTCCCTGCGCACGGCCCGC 0.652 NA 7 269 0 0 0 0 PKMYT1 9088 broad.mit.edu 37 16 3024073 3024073 + Missense_Mutation SNP G G T TCGA-CN-5374-01A-01D-1434-08 TCGA-CN-5374-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 28d5a97b-3f3d-4595-9034-8491999fcf40 fc1114cb-d2aa-40d5-b507-ff3d97d7eab3 g.chr16:3024073G>T uc002csn.2 - 7 1681 c.1238C>A c.(1237-1239)CCG>CAG p.P413Q PKMYT1_uc010uwn.1_RNA|PKMYT1_uc002csm.2_Missense_Mutation_p.P413Q|PKMYT1_uc002cso.2_Missense_Mutation_p.P344Q|PKMYT1_uc002csp.2_Missense_Mutation_p.P404Q|PKMYT1_uc002csq.2_Missense_Mutation_p.P404Q|PKMYT1_uc010bsy.1_Missense_Mutation_p.P404Q NM_004203 NP_004194 Q99640 PMYT1_HUMAN protein kinase Myt1 isoform 1 413 Interaction with PIN1. G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|mitosis|regulation of cyclin-dependent protein kinase activity|regulation of mitosis endoplasmic reticulum membrane|Golgi membrane|membrane fraction|nucleoplasm ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity stomach(1) 1 TGAGCCAGGCGGGGTGGCTGG 0.677 NA 5 28 1.24e-05 1.32e-05 1 0 MEFV 4210 broad.mit.edu 37 16 3293683 3293683 + Missense_Mutation SNP G G T TCGA-CN-5374-01A-01D-1434-08 TCGA-CN-5374-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 28d5a97b-3f3d-4595-9034-8491999fcf40 fc1114cb-d2aa-40d5-b507-ff3d97d7eab3 g.chr16:3293683G>T uc002cun.1 - 10 1844 c.1804C>A c.(1804-1806)CTG>ATG p.L602M NM_000243 NP_000234 O15553 MEFV_HUMAN Mediterranean fever protein 602 B30.2/SPRY. inflammatory response cytoplasm|microtubule|microtubule associated complex|nucleus actin binding|zinc ion binding central_nervous_system(2)|skin(2)|ovary(1)|lung(1) 6 Colchicine(DB01394) TCTGCATCCAGAATCACATTA 0.498 NA 64 375 5.82e-37 6.65e-37 1 0 KIAA0430 9665 broad.mit.edu 37 16 15733071 15733071 + Missense_Mutation SNP G G T TCGA-CN-5374-01A-01D-1434-08 TCGA-CN-5374-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 28d5a97b-3f3d-4595-9034-8491999fcf40 fc1114cb-d2aa-40d5-b507-ff3d97d7eab3 g.chr16:15733071G>T uc002ddr.2 - 2 213 c.20C>A c.(19-21)ACT>AAT p.T7N KIAA0430_uc002ddq.2_Missense_Mutation_p.T6N|KIAA0430_uc010uzv.1_Missense_Mutation_p.T6N|KIAA0430_uc010uzw.1_Missense_Mutation_p.T6N|KIAA0430_uc010uzx.1_Missense_Mutation_p.T6N NM_014647 NP_055462 Q9Y4F3 LKAP_HUMAN limkain b1 6 peroxisome nucleotide binding|RNA binding 0 GGAGTTCTCAGTTCCGTTTCC 0.408 NA 5 269 0.000602214 0.000630683 1 0 CYLD 1540 broad.mit.edu 37 16 50788321 50788321 + Missense_Mutation SNP A A G TCGA-CN-5374-01A-01D-1434-08 TCGA-CN-5374-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 28d5a97b-3f3d-4595-9034-8491999fcf40 fc1114cb-d2aa-40d5-b507-ff3d97d7eab3 g.chr16:50788321A>G uc002egp.1 + 6 1314 c.899A>G c.(898-900)AAT>AGT p.N300S CYLD_uc002egn.1_Missense_Mutation_p.N300S|CYLD_uc002ego.2_Missense_Mutation_p.N300S|CYLD_uc010cbs.1_Missense_Mutation_p.N300S|CYLD_uc002egq.1_Missense_Mutation_p.N300S|CYLD_uc002egr.1_Missense_Mutation_p.N300S|CYLD_uc002egs.1_Missense_Mutation_p.N300S NM_015247 NP_056062 Q9NQC7 CYLD_HUMAN ubiquitin carboxyl-terminal hydrolase CYLD 300 Interaction with TRIP. cell cycle|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|protein K63-linked deubiquitination|regulation of microtubule cytoskeleton organization|regulation of mitotic cell cycle|translation|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway cytosol|extrinsic to internal side of plasma membrane|microtubule|perinuclear region of cytoplasm|ribosome proline-rich region binding|protein kinase binding|structural constituent of ribosome|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding skin(19)|large_intestine(3)|haematopoietic_and_lymphoid_tissue(3)|central_nervous_system(3) 28 all_cancers(37;0.0156) TTGCACATCAATGATATCATC 0.269 NA Mis|N|F|S cylindroma cylindroma Familial_Cylindromatosis|Multiple_Trichoepithelioma_Familial 8 51 0 0 0 0 CHD9 80205 broad.mit.edu 37 16 53243560 53243560 + Missense_Mutation SNP G G A TCGA-CN-5374-01A-01D-1434-08 TCGA-CN-5374-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 28d5a97b-3f3d-4595-9034-8491999fcf40 fc1114cb-d2aa-40d5-b507-ff3d97d7eab3 g.chr16:53243560G>A uc002ehb.2 + 2 1783 c.1619G>A c.(1618-1620)CGT>CAT p.R540H CHD9_uc002egy.2_Missense_Mutation_p.R540H|CHD9_uc002egz.1_Missense_Mutation_p.R540H|CHD9_uc002eha.1_Missense_Mutation_p.R540H|CHD9_uc002ehc.2_Missense_Mutation_p.R540H|CHD9_uc002ehd.2_Missense_Mutation_p.R66H NM_025134 NP_079410 Q3L8U1 CHD9_HUMAN chromodomain helicase DNA binding protein 9 540 cellular lipid metabolic process|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleoplasm ATP binding|DNA binding|helicase activity|protein binding lung(2)|central_nervous_system(1)|breast(1)|skin(1)|ovary(1)|kidney(1) 7 all_cancers(37;0.0212) GCAAAGGAGCGTGGGGAACGC 0.418 NA 29 90 0 0 0 0 KCTD19 146212 broad.mit.edu 37 16 67325248 67325248 + Silent SNP G G A TCGA-CN-5374-01A-01D-1434-08 TCGA-CN-5374-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 28d5a97b-3f3d-4595-9034-8491999fcf40 fc1114cb-d2aa-40d5-b507-ff3d97d7eab3 g.chr16:67325248G>A uc002esu.2 - 14 2580 c.2529C>T c.(2527-2529)ATC>ATT p.I843I KCTD19_uc002est.2_Silent_p.I615I|KCTD19_uc010vjj.1_Silent_p.I586I NM_001100915 NP_001094385 Q17RG1 KCD19_HUMAN potassium channel tetramerisation domain 843 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) CCTTGGCTGTGATGGCTTTGG 0.557 NA 9 63 0 0 0 0 HYDIN 54768 broad.mit.edu 37 16 70902676 70902676 + Missense_Mutation SNP G G A TCGA-CN-5374-01A-01D-1434-08 TCGA-CN-5374-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 28d5a97b-3f3d-4595-9034-8491999fcf40 fc1114cb-d2aa-40d5-b507-ff3d97d7eab3 g.chr16:70902676G>A uc002ezr.2 - 66 11232 c.11104C>T c.(11104-11106)CCT>TCT p.P3702S HYDIN_uc010cfy.2_5'Flank NM_032821 NP_116210 Q4G0P3 HYDIN_HUMAN hydrocephalus inducing isoform a 3703 ovary(1)|skin(1) 2 Ovarian(137;0.0654) GCACACCCAGGGTGGAGGTGG 0.463 NA 13 33 0 0 0 0 CHST6 4166 broad.mit.edu 37 16 75512869 75512869 + Silent SNP C C T TCGA-CN-5374-01A-01D-1434-08 TCGA-CN-5374-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 28d5a97b-3f3d-4595-9034-8491999fcf40 fc1114cb-d2aa-40d5-b507-ff3d97d7eab3 g.chr16:75512869C>T uc002fef.2 - 3 1038 c.858G>A c.(856-858)GCG>GCA p.A286A CHST6_uc002feg.1_RNA|CHST6_uc002feh.1_Silent_p.A286A NM_021615 NP_067628 Q9GZX3 CHST6_HUMAN carbohydrate (N-acetylglucosamine 6-O) 286 Lumenal (Potential). keratan sulfate biosynthetic process|N-acetylglucosamine metabolic process Golgi membrane|integral to membrane N-acetylglucosamine 6-O-sulfotransferase activity 0 AGGCGTAGAGCGCACGGATTT 0.672 NA 8 64 0 0 0 0 TAF1C 9013 broad.mit.edu 37 16 84214952 84214952 + Silent SNP C C T TCGA-CN-5374-01A-01D-1434-08 TCGA-CN-5374-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 28d5a97b-3f3d-4595-9034-8491999fcf40 fc1114cb-d2aa-40d5-b507-ff3d97d7eab3 g.chr16:84214952C>T uc002fhn.2 - 10 1452 c.1224G>A c.(1222-1224)GTG>GTA p.V408V TAF1C_uc002fhm.2_Silent_p.V315V|TAF1C_uc010vnx.1_Silent_p.V382V|TAF1C_uc010vny.1_5'UTR|TAF1C_uc010vnz.1_Silent_p.V76V|TAF1C_uc002fho.2_5'UTR|TAF1C_uc010voa.1_Silent_p.V76V|TAF1C_uc002fhp.1_Intron|TAF1C_uc010vob.1_3'UTR NM_005679 NP_005670 Q15572 TAF1C_HUMAN TBP-associated factor 1C isoform 1 408 regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter nucleoplasm DNA binding ovary(1) 1 CCAGCATCTTCACTCCGGTGC 0.697 NA 19 29 0 0 0 0 DHX33 56919 broad.mit.edu 37 17 5353646 5353646 + Silent SNP G G T TCGA-CN-5374-01A-01D-1434-08 TCGA-CN-5374-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 28d5a97b-3f3d-4595-9034-8491999fcf40 fc1114cb-d2aa-40d5-b507-ff3d97d7eab3 g.chr17:5353646G>T uc002gca.2 - 10 1607 c.1605C>A c.(1603-1605)CTC>CTA p.L535L DHX33_uc002gbz.2_Silent_p.L306L|DHX33_uc002gcb.2_Silent_p.L362L|DHX33_uc010clf.2_Silent_p.L311L NM_020162 NP_064547 Q9H6R0 DHX33_HUMAN DEAH (Asp-Glu-Ala-His) box polypeptide 33 535 nucleolus ATP binding|ATP-dependent helicase activity|nucleic acid binding ovary(1)|pancreas(1) 2 GAGGGTTGTGGAGGACGCTGT 0.522 NA 8 294 2.74e-10 3.02e-10 1 0 DHX33 56919 broad.mit.edu 37 17 5364405 5364405 + Missense_Mutation SNP C C A TCGA-CN-5374-01A-01D-1434-08 TCGA-CN-5374-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 28d5a97b-3f3d-4595-9034-8491999fcf40 fc1114cb-d2aa-40d5-b507-ff3d97d7eab3 g.chr17:5364405C>A uc002gca.2 - 4 705 c.703G>T c.(703-705)GAT>TAT p.D235Y DHX33_uc002gbz.2_Missense_Mutation_p.D6Y|DHX33_uc002gcb.2_Missense_Mutation_p.D62Y|DHX33_uc010clf.2_Intron NM_020162 NP_064547 Q9H6R0 DHX33_HUMAN DEAH (Asp-Glu-Ala-His) box polypeptide 33 235 Helicase ATP-binding. nucleolus ATP binding|ATP-dependent helicase activity|nucleic acid binding ovary(1)|pancreas(1) 2 AGGTCCACATCCATCGTAGCT 0.517 NA 36 185 1.91e-15 2.14e-15 1 0 KCTD11 147040 broad.mit.edu 37 17 7256895 7256895 + Missense_Mutation SNP G G C TCGA-CN-5374-01A-01D-1434-08 TCGA-CN-5374-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 28d5a97b-3f3d-4595-9034-8491999fcf40 fc1114cb-d2aa-40d5-b507-ff3d97d7eab3 g.chr17:7256895G>C uc002gge.3 + 1 1688 c.634G>C c.(634-636)GAC>CAC p.D212H TMEM95_uc002ggf.1_5'Flank|TMEM95_uc002ggg.1_5'Flank|TMEM95_uc002ggh.1_5'Flank NM_001002914 NP_001002914 Q693B1 KCD11_HUMAN potassium channel tetramerisation domain 212 cell cycle|regulation of growth voltage-gated potassium channel complex voltage-gated potassium channel activity 0 Prostate(122;0.157) CTTCCGACTAGACTCTGTCTT 0.642 NA 4 65 0 0 0 0 TEKT3 64518 broad.mit.edu 37 17 15217494 15217494 + Missense_Mutation SNP G G A TCGA-CN-5374-01A-01D-1434-08 TCGA-CN-5374-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 28d5a97b-3f3d-4595-9034-8491999fcf40 fc1114cb-d2aa-40d5-b507-ff3d97d7eab3 g.chr17:15217494G>A uc002gon.2 - 6 975 c.788C>T c.(787-789)ACG>ATG p.T263M NM_031898 NP_114104 Q9BXF9 TEKT3_HUMAN tektin 3 263 microtubule cytoskeleton organization cilium axoneme|flagellar axoneme|microtubule ovary(2) 2 UCEC - Uterine corpus endometrioid carcinoma (92;0.0877) CCGGTAAGCCGTCTGTTTGTC 0.557 NA 11 64 0 0 0 0 RAI1 10743 broad.mit.edu 37 17 17701461 17701461 + Silent SNP G G A rs146112263 byFrequency TCGA-CN-5374-01A-01D-1434-08 TCGA-CN-5374-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 28d5a97b-3f3d-4595-9034-8491999fcf40 fc1114cb-d2aa-40d5-b507-ff3d97d7eab3 g.chr17:17701461G>A uc002grm.2 + 3 5668 c.5199G>A c.(5197-5199)TCG>TCA p.S1733S RAI1_uc002grn.1_Silent_p.S1733S NM_030665 NP_109590 Q7Z5J4 RAI1_HUMAN retinoic acid induced 1 1733 cytoplasm|nucleus zinc ion binding central_nervous_system(1)|skin(1) 2 READ - Rectum adenocarcinoma(1115;0.0276) AGGAGGCCTCGCTGCCGCTTG 0.642 NA 10 49 0 0 0 0 PTRH2 51651 broad.mit.edu 37 17 57775025 57775025 + Silent SNP G G C TCGA-CN-5374-01A-01D-1434-08 TCGA-CN-5374-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 28d5a97b-3f3d-4595-9034-8491999fcf40 fc1114cb-d2aa-40d5-b507-ff3d97d7eab3 g.chr17:57775025G>C uc002ixt.2 - 2 440 c.315C>G c.(313-315)CTC>CTG p.L105L PTRH2_uc002ixs.2_RNA NM_016077 NP_057161 Q9Y3E5 PTH2_HUMAN Bcl-2 inhibitor of transcription precursor 105 apoptosis|translation mitochondrion aminoacyl-tRNA hydrolase activity 0 all_neural(34;0.0878)|Medulloblastoma(34;0.0922) CCCATTGTTTGAGCATTTCAG 0.463 NA 11 242 0 0 0 0 COG1 9382 broad.mit.edu 37 17 71193179 71193179 + Missense_Mutation SNP G G A TCGA-CN-5374-01A-01D-1434-08 TCGA-CN-5374-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 28d5a97b-3f3d-4595-9034-8491999fcf40 fc1114cb-d2aa-40d5-b507-ff3d97d7eab3 g.chr17:71193179G>A uc002jjg.2 + 3 737 c.701G>A c.(700-702)AGA>AAA p.R234K COG1_uc002jjh.2_Missense_Mutation_p.R234K|COG1_uc002jjf.1_Missense_Mutation_p.R234K NM_018714 NP_061184 Q8WTW3 COG1_HUMAN component of oligomeric golgi complex 1 234 Golgi organization|intra-Golgi vesicle-mediated transport|protein transport Golgi membrane|Golgi transport complex protein binding ovary(1) 1 LUSC - Lung squamous cell carcinoma(166;0.197) CTGCTGGCCAGAAAGGCAACT 0.522 NA 6 54 0 0 0 0 BAHCC1 57597 broad.mit.edu 37 17 79428095 79428095 + Missense_Mutation SNP G G A TCGA-CN-5374-01A-01D-1434-08 TCGA-CN-5374-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 28d5a97b-3f3d-4595-9034-8491999fcf40 fc1114cb-d2aa-40d5-b507-ff3d97d7eab3 g.chr17:79428095G>A uc002kaf.2 + 24 6406 c.6406G>A c.(6406-6408)GAG>AAG p.E2136K BAHCC1_uc002kae.2_Missense_Mutation_p.E1366K NM_001080519 NP_001073988 Q9P281 BAHC1_HUMAN BAH domain and coiled-coil containing 1 2136 DNA binding ovary(1) 1 all_neural(118;0.0804)|Melanoma(429;0.242) BRCA - Breast invasive adenocarcinoma(99;0.0224)|OV - Ovarian serous cystadenocarcinoma(97;0.116) GCGGGCCCGCGAGGCCCTGTT 0.682 NA 4 18 0 0 0 0 MC2R 4158 broad.mit.edu 37 18 13885287 13885287 + Silent SNP C C T TCGA-CN-5374-01A-01D-1434-08 TCGA-CN-5374-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 28d5a97b-3f3d-4595-9034-8491999fcf40 fc1114cb-d2aa-40d5-b507-ff3d97d7eab3 g.chr18:13885287C>T uc002ksp.1 - 2 408 c.231G>A c.(229-231)AAG>AAA p.K77K NM_000529 NP_000520 Q01718 ACTHR_HUMAN melanocortin 2 receptor 77 Helical; Name=2; (By similarity). G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cAMP biosynthetic process integral to plasma membrane corticotropin receptor activity|protein binding ovary(4)|skin(1) 5 Corticotropin(DB01285)|Cosyntropin(DB01284) TTTCCAAGATCTTATATAGGC 0.448 NA 6 108 0 0 0 0 CDH19 28513 broad.mit.edu 37 18 64239324 64239324 + Nonsense_Mutation SNP T T A TCGA-CN-5374-01A-01D-1434-08 TCGA-CN-5374-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 28d5a97b-3f3d-4595-9034-8491999fcf40 fc1114cb-d2aa-40d5-b507-ff3d97d7eab3 g.chr18:64239324T>A uc002lkc.1 - 2 256 c.118A>T c.(118-120)AGA>TGA p.R40* CDH19_uc010dql.1_RNA|CDH19_uc010xey.1_Nonsense_Mutation_p.R40*|CDH19_uc002lkd.2_Nonsense_Mutation_p.R40* NM_021153 NP_066976 Q9H159 CAD19_HUMAN cadherin 19, type 2 preproprotein 40 homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(1)|skin(1) 2 Esophageal squamous(42;0.0132) CGCTTCACTCTCAAATGAGAT 0.423 NA 20 113 0 0 0 0 TMPRSS9 360200 broad.mit.edu 37 19 2408478 2408478 + Missense_Mutation SNP G G A TCGA-CN-5374-01A-01D-1434-08 TCGA-CN-5374-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 28d5a97b-3f3d-4595-9034-8491999fcf40 fc1114cb-d2aa-40d5-b507-ff3d97d7eab3 g.chr19:2408478G>A uc010xgx.1 + 7 865 c.865G>A c.(865-867)GCC>ACC p.A289T TMPRSS9_uc002lvv.1_Missense_Mutation_p.A323T NM_182973 NP_892018 Q7Z410 TMPS9_HUMAN transmembrane protease, serine 9 289 Extracellular (Potential).|Peptidase S1 1. proteolysis integral to plasma membrane serine-type endopeptidase activity ovary(1)|central_nervous_system(1) 2 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) CGCGGACACGGCCGACTTTGA 0.677 NA 4 162 0 0 0 0 FBN3 84467 broad.mit.edu 37 19 8156457 8156457 + Missense_Mutation SNP C C G TCGA-CN-5374-01A-01D-1434-08 TCGA-CN-5374-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 28d5a97b-3f3d-4595-9034-8491999fcf40 fc1114cb-d2aa-40d5-b507-ff3d97d7eab3 g.chr19:8156457C>G uc002mjf.2 - 47 5944 c.5923G>C c.(5923-5925)GAG>CAG p.E1975Q FBN3_uc002mje.2_5'Flank NM_032447 NP_115823 Q75N90 FBN3_HUMAN fibrillin 3 precursor 1975 EGF-like 32; calcium-binding. proteinaceous extracellular matrix calcium ion binding|extracellular matrix structural constituent ovary(6)|skin(3)|pancreas(1)|central_nervous_system(1) 11 TTGGGCTCCTCTGAGCACTCG 0.602 NA 16 95 0 0 0 0 MUC16 94025 broad.mit.edu 37 19 9067136 9067136 + Silent SNP C C T TCGA-CN-5374-01A-01D-1434-08 TCGA-CN-5374-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 28d5a97b-3f3d-4595-9034-8491999fcf40 fc1114cb-d2aa-40d5-b507-ff3d97d7eab3 g.chr19:9067136C>T uc002mkp.2 - 3 20514 c.20310G>A c.(20308-20310)CAG>CAA p.Q6770Q NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 6772 Thr-rich.|Extracellular (Potential). cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1) 57 GTGGAAATTCCTGAGTCGCCA 0.488 NA 125 201 0 0 0 0 MUC16 94025 broad.mit.edu 37 19 9076191 9076191 + Missense_Mutation SNP G G A TCGA-CN-5374-01A-01D-1434-08 TCGA-CN-5374-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 28d5a97b-3f3d-4595-9034-8491999fcf40 fc1114cb-d2aa-40d5-b507-ff3d97d7eab3 g.chr19:9076191G>A uc002mkp.2 - 3 11459 c.11255C>T c.(11254-11256)TCA>TTA p.S3752L NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 3753 Thr-rich.|Extracellular (Potential). cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1) 57 CTGAGGAGCTGAGGTAGTGGC 0.522 NA 34 66 0 0 0 0 WIZ 58525 broad.mit.edu 37 19 15547866 15547866 + Missense_Mutation SNP C C T TCGA-CN-5374-01A-01D-1434-08 TCGA-CN-5374-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 28d5a97b-3f3d-4595-9034-8491999fcf40 fc1114cb-d2aa-40d5-b507-ff3d97d7eab3 g.chr19:15547866C>T uc002nbb.3 - 3 494 c.280G>A c.(280-282)GGC>AGC p.G94S NM_021241 NP_067064 O95785 WIZ_HUMAN widely-interspaced zinc finger motifs 884 C2H2-type 7. nucleus zinc ion binding 0 CTGGAGAGGCCGGCCCGTGTG 0.632 NA 6 25 0 0 0 0 HAUS8 93323 broad.mit.edu 37 19 17173586 17173586 + Missense_Mutation SNP G G A TCGA-CN-5374-01A-01D-1434-08 TCGA-CN-5374-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 28d5a97b-3f3d-4595-9034-8491999fcf40 fc1114cb-d2aa-40d5-b507-ff3d97d7eab3 g.chr19:17173586G>A uc002nfe.2 - 4 262 c.151C>T c.(151-153)CCT>TCT p.P51S HAUS8_uc002nff.2_Missense_Mutation_p.P51S|HAUS8_uc002nfg.1_5'UTR|HAUS8_uc002nfh.1_Missense_Mutation_p.P51S NM_033417 NP_219485 Q9BT25 HAUS8_HUMAN sarcoma antigen NY-SAR-48 isoform a 51 cell division|centrosome organization|mitosis|spindle assembly centrosome|HAUS complex|microtubule|spindle pole 0 TCTCCTGCAGGAGCCTGTTAT 0.532 NA 13 88 0 0 0 0 KIAA0892 23383 broad.mit.edu 37 19 19465201 19465201 + Missense_Mutation SNP C C T TCGA-CN-5374-01A-01D-1434-08 TCGA-CN-5374-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 28d5a97b-3f3d-4595-9034-8491999fcf40 fc1114cb-d2aa-40d5-b507-ff3d97d7eab3 g.chr19:19465201C>T uc002nmk.3 + 17 1625 c.1586C>T c.(1585-1587)GCC>GTC p.A529V KIAA0892_uc002nml.3_Missense_Mutation_p.A134V|KIAA0892_uc010ecd.2_Missense_Mutation_p.A134V|KIAA0892_uc010ece.2_Missense_Mutation_p.A105V NM_015329 NP_056144 Q9Y6X3 SCC4_HUMAN hypothetical protein LOC23383 precursor 529 TPR 4. cell division|maintenance of mitotic sister chromatid cohesion chromatin|nucleoplasm|SMC loading complex protein N-terminus binding 0 ATGCAGCTCGCCAGCAAGATC 0.627 NA 9 74 0 0 0 0 ZNF430 80264 broad.mit.edu 37 19 21240159 21240159 + Missense_Mutation SNP G G A TCGA-CN-5374-01A-01D-1434-08 TCGA-CN-5374-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 28d5a97b-3f3d-4595-9034-8491999fcf40 fc1114cb-d2aa-40d5-b507-ff3d97d7eab3 g.chr19:21240159G>A uc002npj.2 + 5 1155 c.1045G>A c.(1045-1047)GAA>AAA p.E349K ZNF430_uc002npk.2_Missense_Mutation_p.E348K NM_025189 NP_079465 Q9H8G1 ZN430_HUMAN zinc finger protein 430 349 C2H2-type 6. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding skin(2) 2 CAAATGTGAAGAATGTGGCAA 0.393 NA 56 98 0 0 0 0 PDCD2L 84306 broad.mit.edu 37 19 34912449 34912449 + Missense_Mutation SNP T T A TCGA-CN-5374-01A-01D-1434-08 TCGA-CN-5374-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 28d5a97b-3f3d-4595-9034-8491999fcf40 fc1114cb-d2aa-40d5-b507-ff3d97d7eab3 g.chr19:34912449T>A uc002nvj.2 + 6 856 c.823T>A c.(823-825)TTT>ATT p.F275I NM_032346 NP_115722 Q9BRP1 PDD2L_HUMAN programmed cell death 2-like 275 cytoplasm ovary(1) 1 Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.211) AGAGCCACTCTTTTTGACCTG 0.512 NA 16 378 0 0 0 0 ZBTB32 27033 broad.mit.edu 37 19 36205789 36205789 + Silent SNP T T C TCGA-CN-5374-01A-01D-1434-08 TCGA-CN-5374-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 28d5a97b-3f3d-4595-9034-8491999fcf40 fc1114cb-d2aa-40d5-b507-ff3d97d7eab3 g.chr19:36205789T>C uc002oay.2 + 2 471 c.261T>C c.(259-261)CCT>CCC p.P87P ZBTB32_uc002oaz.2_RNA NM_014383 NP_055198 Q9Y2Y4 ZBT32_HUMAN zinc finger and BTB domain containing 32 87 BTB. DNA repair|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter nucleoplasm DNA binding|protein binding|transcription corepressor activity|zinc ion binding ovary(1)|skin(1) 2 all_lung(56;2.22e-07)|Lung NSC(56;3.47e-07)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0515) AGCTGCAGCCTGGAGAGCTAA 0.627 NA 3 150 0 0 0 0 ZNF780A 284323 broad.mit.edu 37 19 40580486 40580486 + Silent SNP A A G TCGA-CN-5374-01A-01D-1434-08 TCGA-CN-5374-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 28d5a97b-3f3d-4595-9034-8491999fcf40 fc1114cb-d2aa-40d5-b507-ff3d97d7eab3 g.chr19:40580486A>G uc002omy.2 - 6 2088 c.1863T>C c.(1861-1863)GTT>GTC p.V621V ZNF780A_uc002omw.3_Intron|ZNF780A_uc002omz.2_Silent_p.V621V|ZNF780A_uc010xvh.1_Silent_p.V622V NM_001010880 NP_001010880 O75290 Z780A_HUMAN zinc finger protein 780A isoform b 621 C2H2-type 17. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925) GAAGACTAAAAACCTTTCCAC 0.413 NA 39 166 0 0 0 0 ZNF155 7711 broad.mit.edu 37 19 44500287 44500287 + Missense_Mutation SNP G G A TCGA-CN-5374-01A-01D-1434-08 TCGA-CN-5374-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 28d5a97b-3f3d-4595-9034-8491999fcf40 fc1114cb-d2aa-40d5-b507-ff3d97d7eab3 g.chr19:44500287G>A uc002oxy.1 + 5 483 c.278G>A c.(277-279)GGA>GAA p.G93E ZNF155_uc002oxz.1_Missense_Mutation_p.G93E|ZNF155_uc010xwt.1_Missense_Mutation_p.G104E NM_003445 NP_003436 Q12901 ZN155_HUMAN zinc finger protein 155 93 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding large_intestine(1)|ovary(1) 2 Prostate(69;0.0352) CCAGAAGCAGGAGCACATGAA 0.418 NA 22 120 0 0 0 0 SYMPK 8189 broad.mit.edu 37 19 46324705 46324705 + Missense_Mutation SNP C C T TCGA-CN-5374-01A-01D-1434-08 TCGA-CN-5374-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 28d5a97b-3f3d-4595-9034-8491999fcf40 fc1114cb-d2aa-40d5-b507-ff3d97d7eab3 g.chr19:46324705C>T uc002pdn.2 - 22 3075 c.2830G>A c.(2830-2832)GAG>AAG p.E944K SYMPK_uc002pdo.1_Missense_Mutation_p.E944K|SYMPK_uc002pdp.1_Missense_Mutation_p.E944K NM_004819 NP_004810 Q92797 SYMPK_HUMAN symplekin 944 cell adhesion|mRNA processing cytoplasm|cytoskeleton|nucleoplasm|tight junction protein binding ovary(1) 1 all_neural(266;0.0299)|Ovarian(192;0.0308) OV - Ovarian serous cystadenocarcinoma(262;0.00509)|GBM - Glioblastoma multiforme(486;0.0593) ATCAGGAGCTCTCCAGGGTTC 0.587 NA 3 61 0 0 0 0 TRPM4 54795 broad.mit.edu 37 19 49693515 49693515 + Missense_Mutation SNP C C G TCGA-CN-5374-01A-01D-1434-08 TCGA-CN-5374-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 28d5a97b-3f3d-4595-9034-8491999fcf40 fc1114cb-d2aa-40d5-b507-ff3d97d7eab3 g.chr19:49693515C>G uc002pmw.2 + 15 2142 c.2070C>G c.(2068-2070)ATC>ATG p.I690M TRPM4_uc010emu.2_Missense_Mutation_p.I690M|TRPM4_uc010yak.1_Missense_Mutation_p.I154M|TRPM4_uc002pmx.2_Missense_Mutation_p.I516M|TRPM4_uc010emv.2_Missense_Mutation_p.I575M|TRPM4_uc010yal.1_Missense_Mutation_p.I336M|TRPM4_uc002pmy.2_Missense_Mutation_p.I32M NM_017636 NP_060106 Q8TD43 TRPM4_HUMAN transient receptor potential cation channel, 690 Helical; (Potential). dendritic cell chemotaxis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell proliferation|protein sumoylation|regulation of T cell cytokine production endoplasmic reticulum|Golgi apparatus|integral to membrane|plasma membrane ATP binding|calcium activated cation channel activity|calmodulin binding ovary(1)|central_nervous_system(1) 2 all_lung(116;8.54e-05)|Lung NSC(112;0.000139)|all_neural(266;0.0506)|Ovarian(192;0.15) all cancers(93;2.88e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000222)|GBM - Glioblastoma multiforme(486;0.00339)|Epithelial(262;0.00751) CTACACCCATCTGGGCCCTGG 0.602 NA 53 364 0 0 0 0 C19orf41 126123 broad.mit.edu 37 19 50666297 50666297 + Missense_Mutation SNP C C T TCGA-CN-5374-01A-01D-1434-08 TCGA-CN-5374-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 28d5a97b-3f3d-4595-9034-8491999fcf40 fc1114cb-d2aa-40d5-b507-ff3d97d7eab3 g.chr19:50666297C>T uc002prp.1 - 1 242 c.155G>A c.(154-156)CGC>CAC p.R52H NM_152358 NP_689571 Q6UXV1 IZUM2_HUMAN hypothetical protein LOC126123 precursor 52 Extracellular (Potential). integral to membrane 0 all_neural(266;0.0459)|Ovarian(192;0.0728) GBM - Glioblastoma multiforme(134;0.00364)|OV - Ovarian serous cystadenocarcinoma(262;0.0052) GGCCCCGGCGCGCGCCTGCAG 0.667 NA 5 51 0 0 0 0 ZNF761 388561 broad.mit.edu 37 19 53958797 53958797 + Nonsense_Mutation SNP C C T TCGA-CN-5374-01A-01D-1434-08 TCGA-CN-5374-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 28d5a97b-3f3d-4595-9034-8491999fcf40 fc1114cb-d2aa-40d5-b507-ff3d97d7eab3 g.chr19:53958797C>T uc010eqp.2 + 7 1494 c.1036C>T c.(1036-1038)CGA>TGA p.R346* ZNF761_uc010ydy.1_Nonsense_Mutation_p.R292*|ZNF761_uc002qbt.1_Nonsense_Mutation_p.R292* NM_001008401 NP_001008401 Q86XN6 ZN761_HUMAN zinc finger protein 761 346 C2H2-type 5. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 GBM - Glioblastoma multiforme(134;0.00786) ACGCCATCATCGACTTCATAC 0.403 NA 49 198 0 0 0 0 CACNG7 59284 broad.mit.edu 37 19 54445546 54445546 + Silent SNP G G A TCGA-CN-5374-01A-01D-1434-08 TCGA-CN-5374-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 28d5a97b-3f3d-4595-9034-8491999fcf40 fc1114cb-d2aa-40d5-b507-ff3d97d7eab3 g.chr19:54445546G>A uc002qcr.1 + 5 842 c.827G>A c.(826-828)TGA>TAA p.*276* NM_031896 NP_114102 P62955 CCG7_HUMAN voltage-dependent calcium channel gamma-7 276 regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|voltage-gated calcium channel complex voltage-gated calcium channel activity ovary(1) 1 all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218) GBM - Glioblastoma multiforme(134;0.0711) TCGCCCTGCTGAGGCCCGCCC 0.662 NA 48 209 0 0 0 0 ZNF550 162972 broad.mit.edu 37 19 58059066 58059066 + Silent SNP G G T TCGA-CN-5374-01A-01D-1434-08 TCGA-CN-5374-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 28d5a97b-3f3d-4595-9034-8491999fcf40 fc1114cb-d2aa-40d5-b507-ff3d97d7eab3 g.chr19:58059066G>T uc002qpe.1 - 2 423 c.423C>A c.(421-423)CTC>CTA p.L141L ZNF547_uc002qpm.3_Intron|ZNF549_uc010eud.1_Intron|ZNF550_uc002qpc.2_RNA|ZNF550_uc010eue.1_RNA|ZNF550_uc002qpd.2_RNA NM_001039654 NP_001034743 Q7Z398 ZN550_HUMAN zinc finger protein 550 182 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026) CACATTCATGGAGAACATCTG 0.483 NA 15 363 6.72e-11 7.42e-11 1 0 NT5C1B 93034 broad.mit.edu 37 2 18765901 18765901 + Missense_Mutation SNP C C T TCGA-CN-5374-01A-01D-1434-08 TCGA-CN-5374-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 28d5a97b-3f3d-4595-9034-8491999fcf40 fc1114cb-d2aa-40d5-b507-ff3d97d7eab3 g.chr2:18765901C>T uc002rcz.2 - 5 886 c.782G>A c.(781-783)CGC>CAC p.R261H NT5C1B_uc002rcy.2_Missense_Mutation_p.R261H|NT5C1B_uc010exr.2_Missense_Mutation_p.R203H|NT5C1B_uc010yju.1_Missense_Mutation_p.R201H|NT5C1B_uc002rda.2_Missense_Mutation_p.R201H|NT5C1B_uc010yjv.1_Missense_Mutation_p.R278H|NT5C1B_uc010yjw.1_Missense_Mutation_p.R244H|NT5C1B_uc010exs.2_Missense_Mutation_p.R263H|NT5C1B_uc002rdb.1_Missense_Mutation_p.R53H NM_001002006 NP_001002006 Q96P26 5NT1B_HUMAN 5' nucleotidase, cytosolic IB isoform 1 261 purine base metabolic process|purine nucleotide catabolic process cytosol 5'-nucleotidase activity|magnesium ion binding|nucleotide binding skin(2)|ovary(1) 3 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.177) Ovarian(717;0.208) CAGAGAGTTGCGGTCCAGCTG 0.652 NA 4 24 0 0 0 0 ADCY3 109 broad.mit.edu 37 2 25042974 25042974 + Missense_Mutation SNP C C T TCGA-CN-5374-01A-01D-1434-08 TCGA-CN-5374-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 28d5a97b-3f3d-4595-9034-8491999fcf40 fc1114cb-d2aa-40d5-b507-ff3d97d7eab3 g.chr2:25042974C>T uc002rfs.3 - 21 3461 c.3262G>A c.(3262-3264)GAA>AAA p.E1088K ADCY3_uc002rfr.3_Missense_Mutation_p.E675K|ADCY3_uc010ykm.1_Missense_Mutation_p.E1089K NM_004036 NP_004027 O60266 ADCY3_HUMAN adenylate cyclase 3 1088 Cytoplasmic (Potential). activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|sensory perception of smell|synaptic transmission|transmembrane transport|water transport cytoplasm|integral to plasma membrane ATP binding|calmodulin binding|metal ion binding breast(3)|ovary(1) 4 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.203) ACTTGGGTTTCTTCTACCACC 0.612 NA 8 82 0 0 0 0 LTBP1 4052 broad.mit.edu 37 2 33487804 33487804 + Missense_Mutation SNP G G C TCGA-CN-5374-01A-01D-1434-08 TCGA-CN-5374-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 28d5a97b-3f3d-4595-9034-8491999fcf40 fc1114cb-d2aa-40d5-b507-ff3d97d7eab3 g.chr2:33487804G>C uc002ros.2 + 14 2434 c.2434G>C c.(2434-2436)GAT>CAT p.D812H LTBP1_uc002rot.2_Missense_Mutation_p.D486H|LTBP1_uc002rou.2_Missense_Mutation_p.D486H|LTBP1_uc002rov.2_Missense_Mutation_p.D433H|LTBP1_uc010ymz.1_Missense_Mutation_p.D486H|LTBP1_uc010yna.1_Missense_Mutation_p.D433H NM_206943 NP_996826 Q14766 LTBP1_HUMAN latent transforming growth factor beta binding 812 negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta proteinaceous extracellular matrix calcium ion binding|growth factor binding|transforming growth factor beta receptor activity ovary(3)|skin(2)|upper_aerodigestive_tract(1)|lung(1)|central_nervous_system(1) 8 all_hematologic(175;0.115) Medulloblastoma(90;0.215) ACCTTCATTGGATCAAGAGAA 0.368 NA 11 107 0 0 0 0 FAM98A 25940 broad.mit.edu 37 2 33809952 33809952 + Missense_Mutation SNP C C T TCGA-CN-5374-01A-01D-1434-08 TCGA-CN-5374-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 28d5a97b-3f3d-4595-9034-8491999fcf40 fc1114cb-d2aa-40d5-b507-ff3d97d7eab3 g.chr2:33809952C>T uc002rpa.1 - 8 1522 c.1448G>A c.(1447-1449)AGA>AAA p.R483K FAM98A_uc010yne.1_Missense_Mutation_p.R288K|FAM98A_uc010ynd.1_Missense_Mutation_p.R314K|FAM98A_uc002roz.1_Missense_Mutation_p.R321K NM_015475 NP_056290 Q8NCA5 FA98A_HUMAN hypothetical protein LOC25940 484 Gly-rich. ovary(1) 1 all_hematologic(175;0.115) CTGGCTCCCTCTTCCTCCCCA 0.363 NA 46 300 0 0 0 0 C2orf3 6936 broad.mit.edu 37 2 75915055 75915055 + Missense_Mutation SNP C C T TCGA-CN-5374-01A-01D-1434-08 TCGA-CN-5374-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 28d5a97b-3f3d-4595-9034-8491999fcf40 fc1114cb-d2aa-40d5-b507-ff3d97d7eab3 g.chr2:75915055C>T uc002sno.2 - 11 1718 c.1588G>A c.(1588-1590)GAA>AAA p.E530K C2orf3_uc010ffs.2_Missense_Mutation_p.E92K|C2orf3_uc002snn.2_Missense_Mutation_p.E361K|C2orf3_uc010fft.2_Missense_Mutation_p.E205K NM_003203 NP_003194 P16383 GCF_HUMAN hypothetical protein LOC6936 530 negative regulation of transcription, DNA-dependent nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity ovary(1)|central_nervous_system(1) 2 TCCATAAATTCTTCTACAGAT 0.318 NA 4 134 0 0 0 0 LRRTM1 347730 broad.mit.edu 37 2 80530589 80530589 + Missense_Mutation SNP G G A TCGA-CN-5374-01A-01D-1434-08 TCGA-CN-5374-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 28d5a97b-3f3d-4595-9034-8491999fcf40 fc1114cb-d2aa-40d5-b507-ff3d97d7eab3 g.chr2:80530589G>A uc002sok.1 - 2 626 c.356C>T c.(355-357)ACG>ATG p.T119M CTNNA2_uc010yse.1_Intron|CTNNA2_uc010ysf.1_Intron|CTNNA2_uc010ysg.1_Intron|CTNNA2_uc010ysh.1_Intron|CTNNA2_uc010ysi.1_5'Flank|LRRTM1_uc002soj.3_RNA NM_178839 NP_849161 Q86UE6 LRRT1_HUMAN leucine rich repeat transmembrane neuronal 1 119 LRR 2.|Lumenal (Potential). axon|endoplasmic reticulum membrane|growth cone|integral to membrane ovary(3)|upper_aerodigestive_tract(1)|skin(1) 5 GGAACTCAGCGTGAGTTCCTT 0.582 NA HNSCC(69;0.2) 58 179 0 0 0 0 PDCL3 79031 broad.mit.edu 37 2 101188229 101188229 + Silent SNP G G A TCGA-CN-5374-01A-01D-1434-08 TCGA-CN-5374-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 28d5a97b-3f3d-4595-9034-8491999fcf40 fc1114cb-d2aa-40d5-b507-ff3d97d7eab3 g.chr2:101188229G>A uc002tao.2 + 5 658 c.546G>A c.(544-546)CTG>CTA p.L182L NM_024065 NP_076970 Q9H2J4 PDCL3_HUMAN phosducin-like 3 182 apoptosis|interspecies interaction between organisms cytoplasm protein binding 0 TTGGTCCTCTGGTGTTTGGCG 0.493 NA 11 235 0 0 0 0 MRPS9 64965 broad.mit.edu 37 2 105708870 105708870 + Silent SNP C C T TCGA-CN-5374-01A-01D-1434-08 TCGA-CN-5374-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 28d5a97b-3f3d-4595-9034-8491999fcf40 fc1114cb-d2aa-40d5-b507-ff3d97d7eab3 g.chr2:105708870C>T uc002tcn.3 + 8 731 c.663C>T c.(661-663)TTC>TTT p.F221F NM_182640 NP_872578 P82933 RT09_HUMAN mitochondrial ribosomal protein S9 precursor 221 DNA damage response, detection of DNA damage|translation mitochondrial small ribosomal subunit protein binding|structural constituent of ribosome 0 ATATGCAGTTCATTCGGCTGC 0.353 NA 17 77 0 0 0 0 RGPD3 653489 broad.mit.edu 37 2 107049681 107049681 + Missense_Mutation SNP T T C TCGA-CN-5374-01A-01D-1434-08 TCGA-CN-5374-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 28d5a97b-3f3d-4595-9034-8491999fcf40 fc1114cb-d2aa-40d5-b507-ff3d97d7eab3 g.chr2:107049681T>C uc010ywi.1 - 16 2323 c.2266A>G c.(2266-2268)AAC>GAC p.N756D NM_001144013 NP_001137485 A6NKT7 RGPD3_HUMAN RANBP2-like and GRIP domain containing 3 756 intracellular transport binding ovary(1) 1 TCACTATAGTTTTCGAGTTCC 0.373 NA 5 301 0 0 0 0 WDR33 55339 broad.mit.edu 37 2 128477169 128477169 + Missense_Mutation SNP C C T TCGA-CN-5374-01A-01D-1434-08 TCGA-CN-5374-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 28d5a97b-3f3d-4595-9034-8491999fcf40 fc1114cb-d2aa-40d5-b507-ff3d97d7eab3 g.chr2:128477169C>T uc002tpg.1 - 16 2613 c.2430G>A c.(2428-2430)ATG>ATA p.M810I NM_018383 NP_060853 Q9C0J8 WDR33_HUMAN WD repeat domain 33 isoform 1 810 postreplication repair|spermatogenesis collagen|nucleus protein binding 0 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.0695) GAGGTCCTCTCATCTCTTGAG 0.617 NA 12 100 0 0 0 0 LRP1B 53353 broad.mit.edu 37 2 142888281 142888281 + Silent SNP G G C rs139525868 TCGA-CN-5374-01A-01D-1434-08 TCGA-CN-5374-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 28d5a97b-3f3d-4595-9034-8491999fcf40 fc1114cb-d2aa-40d5-b507-ff3d97d7eab3 g.chr2:142888281G>C uc002tvj.1 - 1 990 c.18C>G c.(16-18)CTC>CTG p.L6L LRP1B_uc010fnl.1_Silent_p.L43L NM_018557 NP_061027 Q9NZR2 LRP1B_HUMAN low density lipoprotein-related protein 1B 6 protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1) 50 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) TGAGTAAGGCGAGGAGAAACT 0.522 NA TSP Lung(27;0.18) 5 14 0 0 0 0 GTF3C3 9330 broad.mit.edu 37 2 197656160 197656160 + Missense_Mutation SNP G G A TCGA-CN-5374-01A-01D-1434-08 TCGA-CN-5374-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 28d5a97b-3f3d-4595-9034-8491999fcf40 fc1114cb-d2aa-40d5-b507-ff3d97d7eab3 g.chr2:197656160G>A uc002uts.2 - 4 526 c.436C>T c.(436-438)CCC>TCC p.P146S GTF3C3_uc010zgu.1_Missense_Mutation_p.P146S|GTF3C3_uc002utu.2_Missense_Mutation_p.P146S NM_012086 NP_036218 Q9Y5Q9 TF3C3_HUMAN general transcription factor IIIC, polypeptide 146 transcription factor TFIIIC complex DNA binding|protein binding ovary(3)|breast(3)|pancreas(1) 7 AGAGCTCTGGGAAGTTTACTC 0.393 NA 6 109 0 0 0 0 FN1 2335 broad.mit.edu 37 2 216292957 216292957 + Missense_Mutation SNP C C T TCGA-CN-5374-01A-01D-1434-08 TCGA-CN-5374-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 28d5a97b-3f3d-4595-9034-8491999fcf40 fc1114cb-d2aa-40d5-b507-ff3d97d7eab3 g.chr2:216292957C>T uc002vfa.2 - 6 1056 c.790G>A c.(790-792)GGC>AGC p.G264S FN1_uc002vfb.2_Missense_Mutation_p.G264S|FN1_uc002vfc.2_Missense_Mutation_p.G264S|FN1_uc002vfd.2_Missense_Mutation_p.G264S|FN1_uc002vfe.2_Missense_Mutation_p.G264S|FN1_uc002vff.2_Missense_Mutation_p.G264S|FN1_uc002vfg.2_Missense_Mutation_p.G264S|FN1_uc002vfh.2_Missense_Mutation_p.G264S|FN1_uc002vfi.2_Missense_Mutation_p.G264S|FN1_uc002vfj.2_Missense_Mutation_p.G264S|FN1_uc002vfl.2_Missense_Mutation_p.G264S NM_212482 NP_997647 P02751 FINC_HUMAN fibronectin 1 isoform 1 preproprotein 264 Fibrin- and heparin-binding 1.|Fibronectin type-I 5. acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix collagen binding|extracellular matrix structural constituent|heparin binding central_nervous_system(7)|large_intestine(2)|breast(2)|ovary(1)|pancreas(1) 13 Renal(323;0.127) Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) TCTCCTCGGCCGTTGCCTGTG 0.557 NA 43 96 0 0 0 0 RUFY4 285180 broad.mit.edu 37 2 218954013 218954013 + Missense_Mutation SNP C C G TCGA-CN-5374-01A-01D-1434-08 TCGA-CN-5374-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 28d5a97b-3f3d-4595-9034-8491999fcf40 fc1114cb-d2aa-40d5-b507-ff3d97d7eab3 g.chr2:218954013C>G uc002vgw.2 + 13 2866 c.1022C>G c.(1021-1023)TCT>TGT p.S341C RUFY4_uc002vgy.1_RNA|RUFY4_uc010fvl.1_Missense_Mutation_p.S341C NM_198483 NP_940885 Q6ZNE9 RUFY4_HUMAN RUN and FYVE domain containing 4 514 FYVE-type. metal ion binding pancreas(1) 1 Renal(207;0.0915) Epithelial(149;4.11e-06)|all cancers(144;0.000519)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948) CAGCATCTCTCTTCCATGGCT 0.458 NA 8 53 0 0 0 0 HDLBP 3069 broad.mit.edu 37 2 242196114 242196114 + Silent SNP G G A TCGA-CN-5374-01A-01D-1434-08 TCGA-CN-5374-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 28d5a97b-3f3d-4595-9034-8491999fcf40 fc1114cb-d2aa-40d5-b507-ff3d97d7eab3 g.chr2:242196114G>A uc002waz.2 - 6 786 c.558C>T c.(556-558)ATC>ATT p.I186I HDLBP_uc002wba.2_Silent_p.I186I|HDLBP_uc002wbb.2_Silent_p.I207I|HDLBP_uc010fzn.1_5'UTR NM_203346 NP_976221 Q00341 VIGLN_HUMAN high density lipoprotein binding protein 186 KH 1. cholesterol metabolic process|lipid transport cytoplasm|high-density lipoprotein particle|nucleus|plasma membrane lipid binding|protein binding|RNA binding breast(3)|skin(1) 4 all_cancers(19;7.77e-41)|all_epithelial(40;1.74e-18)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00338)|Ovarian(221;0.00556)|Lung NSC(271;0.0121)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244) Epithelial(32;8.13e-34)|all cancers(36;4.71e-31)|OV - Ovarian serous cystadenocarcinoma(60;2.34e-15)|Kidney(56;3.72e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.76e-08)|BRCA - Breast invasive adenocarcinoma(100;3.38e-06)|Lung(119;0.000109)|LUSC - Lung squamous cell carcinoma(224;0.000964)|Colorectal(34;0.0132)|COAD - Colon adenocarcinoma(134;0.0928) CTGGGCGTGGGATCTGGATTT 0.483 NA 6 135 0 0 0 0 GGT7 2686 broad.mit.edu 37 20 33444646 33444646 + Silent SNP G G A rs3746452 TCGA-CN-5374-01A-01D-1434-08 TCGA-CN-5374-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 28d5a97b-3f3d-4595-9034-8491999fcf40 fc1114cb-d2aa-40d5-b507-ff3d97d7eab3 g.chr20:33444646G>A uc002xay.2 - 8 1108 c.1065C>T c.(1063-1065)AGC>AGT p.S355S GGT7_uc002xaz.1_Silent_p.S372S NM_178026 NP_821158 Q9UJ14 GGT7_HUMAN gamma-glutamyltransferase 7 355 Extracellular (Potential). glutathione biosynthetic process integral to membrane acyltransferase activity|gamma-glutamyltransferase activity ovary(1) 1 CCACAAGGGCGCTGTAATTGC 0.602 NA 4 32 0 0 0 0 TOP1 7150 broad.mit.edu 37 20 39744053 39744053 + Nonsense_Mutation SNP G G T TCGA-CN-5374-01A-01D-1434-08 TCGA-CN-5374-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 28d5a97b-3f3d-4595-9034-8491999fcf40 fc1114cb-d2aa-40d5-b507-ff3d97d7eab3 g.chr20:39744053G>T uc002xjl.2 + 16 1927 c.1681G>T c.(1681-1683)GAG>TAG p.E561* uc002xjn.1_Intron NM_003286 NP_003277 P11387 TOP1_HUMAN DNA topoisomerase I 561 DNA topological change|interspecies interaction between organisms|phosphorylation|programmed cell death|response to drug chromosome|nucleolus|nucleoplasm ATP binding|chromatin DNA binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA topoisomerase type I activity|protein binding breast(3)|ovary(2)|central_nervous_system(1)|kidney(1) 7 Myeloproliferative disorder(115;0.00878) Irinotecan(DB00762)|Lucanthone(DB04967)|Topotecan(DB01030) CAAGCAGCCCGAGGATGATCT 0.378 NA T NUP98 AML* 19 121 8.05e-18 9.04e-18 1 0 L3MBTL 26013 broad.mit.edu 37 20 42163513 42163513 + Missense_Mutation SNP G G A TCGA-CN-5374-01A-01D-1434-08 TCGA-CN-5374-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 28d5a97b-3f3d-4595-9034-8491999fcf40 fc1114cb-d2aa-40d5-b507-ff3d97d7eab3 g.chr20:42163513G>A uc010zwh.1 + 16 1736 c.1690G>A c.(1690-1692)GCT>ACT p.A564T L3MBTL_uc002xkl.2_Missense_Mutation_p.A496T|L3MBTL_uc002xkm.2_Missense_Mutation_p.A496T|L3MBTL_uc010ggl.2_Missense_Mutation_p.A496T|L3MBTL_uc002xkn.1_Missense_Mutation_p.A255T|L3MBTL_uc002xko.2_Missense_Mutation_p.A148T NM_015478 NP_056293 Q9Y468 LMBL1_HUMAN l(3)mbt-like isoform I 496 MBT 3. chromatin modification|hemopoiesis|negative regulation of transcription, DNA-dependent|regulation of megakaryocyte differentiation|regulation of mitosis chromatin|condensed chromosome|nucleoplasm identical protein binding|methylated histone residue binding|nucleosomal histone binding|SAM domain binding|sequence-specific DNA binding transcription factor activity|zinc ion binding 0 Myeloproliferative disorder(115;0.00452) COAD - Colon adenocarcinoma(18;0.0031) CTGGATCGACGCTGACCACCC 0.577 NA 5 44 0 0 0 0 KCNK15 60598 broad.mit.edu 37 20 43379005 43379005 + Silent SNP C C T TCGA-CN-5374-01A-01D-1434-08 TCGA-CN-5374-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 28d5a97b-3f3d-4595-9034-8491999fcf40 fc1114cb-d2aa-40d5-b507-ff3d97d7eab3 g.chr20:43379005C>T uc002xmr.2 + 2 583 c.519C>T c.(517-519)CTC>CTT p.L173L NM_022358 NP_071753 Q9H427 KCNKF_HUMAN potassium family, subfamily K, member 15 173 Helical; (Potential). integral to membrane potassium channel activity|voltage-gated ion channel activity 0 Myeloproliferative disorder(115;0.0122) CCCTGGCCCTCGGGGCCGTCG 0.672 NA 12 53 0 0 0 0 WFDC8 90199 broad.mit.edu 37 20 44180733 44180733 + Missense_Mutation SNP C C T TCGA-CN-5374-01A-01D-1434-08 TCGA-CN-5374-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 28d5a97b-3f3d-4595-9034-8491999fcf40 fc1114cb-d2aa-40d5-b507-ff3d97d7eab3 g.chr20:44180733C>T uc002xow.2 - 6 737 c.658G>A c.(658-660)GAG>AAG p.E220K WFDC8_uc002xox.2_Missense_Mutation_p.E220K NM_181510 NP_852611 Q8IUA0 WFDC8_HUMAN WAP four-disulfide core domain 8 precursor 220 WAP 3. extracellular region serine-type endopeptidase inhibitor activity 0 Myeloproliferative disorder(115;0.0122) GGGCACTCCTCATCCTGCAGG 0.423 NA 8 305 0 0 0 0 ARFGEF2 10564 broad.mit.edu 37 20 47639640 47639640 + Missense_Mutation SNP G G T TCGA-CN-5374-01A-01D-1434-08 TCGA-CN-5374-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 28d5a97b-3f3d-4595-9034-8491999fcf40 fc1114cb-d2aa-40d5-b507-ff3d97d7eab3 g.chr20:47639640G>T uc002xtx.3 + 35 4829 c.4677G>T c.(4675-4677)TTG>TTT p.L1559F ARFGEF2_uc010zyf.1_Missense_Mutation_p.L852F NM_006420 NP_006411 Q9Y6D5 BIG2_HUMAN ADP-ribosylation factor guanine 1559 exocytosis|intracellular signal transduction|regulation of ARF protein signal transduction cytosol|Golgi membrane ARF guanyl-nucleotide exchange factor activity breast(3)|upper_aerodigestive_tract(1) 4 BRCA - Breast invasive adenocarcinoma(12;0.00148)|Colorectal(8;0.198) AGTTGGAATTGATACAGACCA 0.453 NA 8 219 4.69e-08 5.1e-08 1 0 TSHZ2 128553 broad.mit.edu 37 20 51873085 51873085 + Missense_Mutation SNP G G C TCGA-CN-5374-01A-01D-1434-08 TCGA-CN-5374-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 28d5a97b-3f3d-4595-9034-8491999fcf40 fc1114cb-d2aa-40d5-b507-ff3d97d7eab3 g.chr20:51873085G>C uc002xwo.2 + 2 4044 c.3088G>C c.(3088-3090)GAC>CAC p.D1030H NM_173485 NP_775756 Q9NRE2 TSH2_HUMAN teashirt zinc finger homeobox 2 1030 multicellular organismal development nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(5)|haematopoietic_and_lymphoid_tissue(1) 6 STAD - Stomach adenocarcinoma(23;0.1) GTTTGTAACAGACGTGGATGA 0.483 NA 7 216 0 0 0 0 ZNF831 128611 broad.mit.edu 37 20 57769147 57769147 + Missense_Mutation SNP G G A TCGA-CN-5374-01A-01D-1434-08 TCGA-CN-5374-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 28d5a97b-3f3d-4595-9034-8491999fcf40 fc1114cb-d2aa-40d5-b507-ff3d97d7eab3 g.chr20:57769147G>A uc002yan.2 + 1 3073 c.3073G>A c.(3073-3075)GAC>AAC p.D1025N NM_178457 NP_848552 Q5JPB2 ZN831_HUMAN zinc finger protein 831 1025 intracellular nucleic acid binding|zinc ion binding skin(13)|ovary(1) 14 all_lung(29;0.0085) GTTGGGGGGGGACAAGGGGGA 0.682 NA 6 71 0 0 0 0 PRPF6 24148 broad.mit.edu 37 20 62616302 62616302 + Missense_Mutation SNP G G A TCGA-CN-5374-01A-01D-1434-08 TCGA-CN-5374-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 28d5a97b-3f3d-4595-9034-8491999fcf40 fc1114cb-d2aa-40d5-b507-ff3d97d7eab3 g.chr20:62616302G>A uc002yho.2 + 3 451 c.283G>A c.(283-285)GAG>AAG p.E95K PRPF6_uc002yhp.2_Missense_Mutation_p.E95K NM_012469 NP_036601 O94906 PRP6_HUMAN PRP6 pre-mRNA processing factor 6 homolog 95 assembly of spliceosomal tri-snRNP|positive regulation of transcription from RNA polymerase II promoter|spliceosome assembly catalytic step 2 spliceosome|nucleoplasm|U4/U6 snRNP|U4/U6 x U5 tri-snRNP complex|U5 snRNP androgen receptor binding|ribonucleoprotein binding|transcription coactivator activity ovary(2) 2 all_cancers(38;6.47e-12)|all_epithelial(29;1.26e-13)|Lung NSC(23;9.37e-10)|all_lung(23;3.23e-09) TGGACCCTACGAGAAAGATGA 0.448 NA 14 63 0 0 0 0 DONSON 29980 broad.mit.edu 37 21 34956969 34956969 + Missense_Mutation SNP C C T TCGA-CN-5374-01A-01D-1434-08 TCGA-CN-5374-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 28d5a97b-3f3d-4595-9034-8491999fcf40 fc1114cb-d2aa-40d5-b507-ff3d97d7eab3 g.chr21:34956969C>T uc002ysk.2 - 4 779 c.712G>A c.(712-714)GAT>AAT p.D238N DONSON_uc002ysn.1_Missense_Mutation_p.D121N|DONSON_uc002ysi.1_5'UTR|DONSON_uc002ysj.2_5'UTR|DONSON_uc002ysl.2_5'UTR|DONSON_uc010gme.2_Missense_Mutation_p.D211N|DONSON_uc002ysm.2_Missense_Mutation_p.D238N NM_017613 NP_060083 Q9NYP3 DONS_HUMAN downstream neighbor of SON 238 multicellular organismal development nucleus ovary(1)|central_nervous_system(1) 2 ATTTTTCTATCAGCTCCAATA 0.448 NA 4 112 0 0 0 0 CYTSA 23384 broad.mit.edu 37 22 24718349 24718349 + Silent SNP C C T TCGA-CN-5374-01A-01D-1434-08 TCGA-CN-5374-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 28d5a97b-3f3d-4595-9034-8491999fcf40 fc1114cb-d2aa-40d5-b507-ff3d97d7eab3 g.chr22:24718349C>T uc002zzw.2 + 5 1708 c.1401C>T c.(1399-1401)CGC>CGT p.R467R CYTSA_uc002zzv.3_Silent_p.R467R|CYTSA_uc011ajq.1_Silent_p.R467R NM_015330 NP_056145 Q69YQ0 CYTSA_HUMAN cytospin A 467 cell cycle|cell division 0 AATACTTCCGCTCTCTTCTAG 0.408 NA 43 218 0 0 0 0 PIWIL3 440822 broad.mit.edu 37 22 25155901 25155901 + Missense_Mutation SNP G G A TCGA-CN-5374-01A-01D-1434-08 TCGA-CN-5374-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 28d5a97b-3f3d-4595-9034-8491999fcf40 fc1114cb-d2aa-40d5-b507-ff3d97d7eab3 g.chr22:25155901G>A uc003abd.1 - 3 575 c.158C>T c.(157-159)CCA>CTA p.P53L PIWIL3_uc011ajx.1_5'UTR|PIWIL3_uc011ajy.1_5'UTR|PIWIL3_uc010gut.1_Missense_Mutation_p.P53L NM_001008496 NP_001008496 Q7Z3Z3 PIWL3_HUMAN piwi-like 3 53 cell differentiation|gene silencing by RNA|meiosis|multicellular organismal development|regulation of translation|spermatogenesis cytoplasm RNA binding ovary(3)|central_nervous_system(1) 4 TCTAACCACTGGGACTTCCTC 0.567 NA 109 634 0 0 0 0 MYO18B 84700 broad.mit.edu 37 22 26286822 26286822 + Missense_Mutation SNP C C T TCGA-CN-5374-01A-01D-1434-08 TCGA-CN-5374-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 28d5a97b-3f3d-4595-9034-8491999fcf40 fc1114cb-d2aa-40d5-b507-ff3d97d7eab3 g.chr22:26286822C>T uc003abz.1 + 26 4664 c.4414C>T c.(4414-4416)CGG>TGG p.R1472W MYO18B_uc003aca.1_Missense_Mutation_p.R1353W|MYO18B_uc010guy.1_Missense_Mutation_p.R1354W|MYO18B_uc010guz.1_Missense_Mutation_p.R1353W|MYO18B_uc011aka.1_Missense_Mutation_p.R626W|MYO18B_uc011akb.1_Missense_Mutation_p.R985W NM_032608 NP_115997 Q8IUG5 MY18B_HUMAN myosin XVIIIB 1472 Potential.|Tail. nucleus|sarcomere|unconventional myosin complex actin binding|ATP binding|motor activity ovary(5)|central_nervous_system(3)|large_intestine(2)|breast(2) 12 ACAGGCCTTCCGGGAGGTCCA 0.612 NA 10 40 0 0 0 0 CARD10 29775 broad.mit.edu 37 22 37892475 37892475 + Silent SNP G G A TCGA-CN-5374-01A-01D-1434-08 TCGA-CN-5374-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 28d5a97b-3f3d-4595-9034-8491999fcf40 fc1114cb-d2aa-40d5-b507-ff3d97d7eab3 g.chr22:37892475G>A uc003asx.1 - 13 2043 c.2040C>T c.(2038-2040)CCC>CCT p.P680P CARD10_uc003ast.1_RNA|CARD10_uc003asv.1_5'Flank|CARD10_uc011ank.1_5'UTR|CARD10_uc003asw.1_Silent_p.P394P|CARD10_uc003asy.1_Silent_p.P680P NM_014550 NP_055365 Q9BWT7 CAR10_HUMAN caspase recruitment domain protein 10 680 activation of NF-kappaB-inducing kinase activity|protein complex assembly|regulation of apoptosis CBM complex receptor signaling complex scaffold activity upper_aerodigestive_tract(1)|lung(1)|breast(1)|ovary(1)|prostate(1)|kidney(1) 6 Melanoma(58;0.0574) CCATCAGGGAGGGGAGTGTGG 0.637 NA 19 91 0 0 0 0 TAB1 10454 broad.mit.edu 37 22 39811028 39811028 + Missense_Mutation SNP G G T TCGA-CN-5374-01A-01D-1434-08 TCGA-CN-5374-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 28d5a97b-3f3d-4595-9034-8491999fcf40 fc1114cb-d2aa-40d5-b507-ff3d97d7eab3 g.chr22:39811028G>T uc003axt.2 + 2 100 c.51G>T c.(49-51)TGG>TGT p.W17C TAB1_uc003axr.2_Missense_Mutation_p.W93C|TAB1_uc011aok.1_5'UTR|TAB1_uc003axu.1_Missense_Mutation_p.W17C NM_006116 NP_006107 Q15750 TAB1_HUMAN mitogen-activated protein kinase kinase kinase 7 17 activation of MAPK activity|activation of MAPKKK activity|I-kappaB kinase/NF-kappaB cascade|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|endosome membrane catalytic activity|protein binding breast(1) 1 AGCCAAGCTGGACAGATGACC 0.612 NA 9 31 2.81e-09 3.06e-09 1 0 SAMM50 25813 broad.mit.edu 37 22 44360402 44360402 + Missense_Mutation SNP G G C TCGA-CN-5374-01A-01D-1434-08 TCGA-CN-5374-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 28d5a97b-3f3d-4595-9034-8491999fcf40 fc1114cb-d2aa-40d5-b507-ff3d97d7eab3 g.chr22:44360402G>C uc003bej.2 + 3 400 c.203G>C c.(202-204)GGA>GCA p.G68A PNPLA3_uc010gzm.1_RNA|SAMM50_uc011aqd.1_5'UTR NM_015380 NP_056195 Q9Y512 SAM50_HUMAN sorting and assembly machinery component 50 68 protein import into mitochondrial outer membrane integral to membrane|integral to membrane of membrane fraction|mitochondrial sorting and assembly machinery complex protein binding skin(1) 1 all_neural(38;0.0966)|Ovarian(80;0.105)|Glioma(61;0.222) TGTGAAATTGGAGATGTTTTC 0.408 NA 21 151 0 0 0 0 MTMR14 64419 broad.mit.edu 37 3 9711137 9711137 + Missense_Mutation SNP C C A TCGA-CN-5374-01A-01D-1434-08 TCGA-CN-5374-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 28d5a97b-3f3d-4595-9034-8491999fcf40 fc1114cb-d2aa-40d5-b507-ff3d97d7eab3 g.chr3:9711137C>A uc003brz.2 + 5 639 c.515C>A c.(514-516)GCA>GAA p.A172E MTMR14_uc003bsa.2_Missense_Mutation_p.A172E|MTMR14_uc003bsb.2_Missense_Mutation_p.A172E|MTMR14_uc011ath.1_Intron|MTMR14_uc010hcl.2_Intron|MTMR14_uc003bsc.2_RNA NM_001077525 NP_001070993 Q8NCE2 MTMRE_HUMAN jumpy isoform 2 172 perinuclear region of cytoplasm|ruffle phosphatidylinositol-3-phosphatase activity|protein tyrosine phosphatase activity skin(1) 1 Medulloblastoma(99;0.227) GATGCCTGGGCAGATGTGGAG 0.612 NA 17 101 2.35e-11 2.61e-11 1 0 EFHB 151651 broad.mit.edu 37 3 19961420 19961420 + Missense_Mutation SNP G G A TCGA-CN-5374-01A-01D-1434-08 TCGA-CN-5374-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 28d5a97b-3f3d-4595-9034-8491999fcf40 fc1114cb-d2aa-40d5-b507-ff3d97d7eab3 g.chr3:19961420G>A uc003cbl.3 - 3 1097 c.901C>T c.(901-903)CCT>TCT p.P301S EFHB_uc003cbm.2_Missense_Mutation_p.P171S NM_144715 NP_653316 Q8N7U6 EFHB_HUMAN EF hand domain family, member B 301 signal transduction proteinaceous extracellular matrix calcium ion binding 0 ACTCCAGCAGGTGGATATCTG 0.343 NA 31 159 0 0 0 0 ZCWPW2 152098 broad.mit.edu 37 3 28520338 28520338 + Missense_Mutation SNP A A G TCGA-CN-5374-01A-01D-1434-08 TCGA-CN-5374-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 28d5a97b-3f3d-4595-9034-8491999fcf40 fc1114cb-d2aa-40d5-b507-ff3d97d7eab3 g.chr3:28520338A>G uc003ceh.2 + 5 694 c.526A>G c.(526-528)AAA>GAA p.K176E ZCWPW2_uc003cei.2_Missense_Mutation_p.K176E|ZCWPW2_uc010hfo.2_Translation_Start_Site NM_001040432 NP_001035522 Q504Y3 ZCPW2_HUMAN zinc finger, CW type with PWWP domain 2 176 zinc ion binding ovary(2) 2 GAAGTGGTATAAAAGTGCACT 0.274 NA 10 81 0 0 0 0 TRANK1 9881 broad.mit.edu 37 3 36874112 36874112 + Missense_Mutation SNP C C T TCGA-CN-5374-01A-01D-1434-08 TCGA-CN-5374-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 28d5a97b-3f3d-4595-9034-8491999fcf40 fc1114cb-d2aa-40d5-b507-ff3d97d7eab3 g.chr3:36874112C>T uc003cgj.2 - 12 5482 c.5180G>A c.(5179-5181)CGC>CAC p.R1727H NM_014831 NP_055646 O15050 TRNK1_HUMAN lupus brain antigen 1 2277 DNA repair ATP binding|ATP-dependent DNA helicase activity|DNA binding ovary(1)|central_nervous_system(1) 2 CCGGCGGTTGCGTGCGCTTTC 0.478 NA 5 112 0 0 0 0 DLEC1 9940 broad.mit.edu 37 3 38105339 38105339 + Missense_Mutation SNP G G T TCGA-CN-5374-01A-01D-1434-08 TCGA-CN-5374-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 28d5a97b-3f3d-4595-9034-8491999fcf40 fc1114cb-d2aa-40d5-b507-ff3d97d7eab3 g.chr3:38105339G>T uc003cho.1 + 6 1123 c.1102G>T c.(1102-1104)GAT>TAT p.D368Y DLEC1_uc003chp.1_Missense_Mutation_p.D368Y|DLEC1_uc010hgv.1_Missense_Mutation_p.D368Y|DLEC1_uc010hgw.1_Missense_Mutation_p.D67Y|DLEC1_uc003chq.1_RNA NM_007335 NP_031361 Q9Y238 DLEC1_HUMAN deleted in lung and esophageal cancer 1 isoform 368 negative regulation of cell proliferation cytoplasm ovary(2)|pancreas(2)|central_nervous_system(2)|skin(2)|breast(1) 9 KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827) CAGTTGTGCTGATACTCCAGT 0.303 NA 33 262 3.04e-20 3.43e-20 1 0 ITIH4 3700 broad.mit.edu 37 3 52850976 52850976 + Missense_Mutation SNP C C G TCGA-CN-5374-01A-01D-1434-08 TCGA-CN-5374-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 28d5a97b-3f3d-4595-9034-8491999fcf40 fc1114cb-d2aa-40d5-b507-ff3d97d7eab3 g.chr3:52850976C>G uc003dfz.2 - 21 2431 c.2395G>C c.(2395-2397)GAA>CAA p.E799Q ITIH4_uc011bel.1_Missense_Mutation_p.E513Q|ITIH4_uc003dfy.2_Missense_Mutation_p.E594Q|ITIH4_uc011bem.1_Missense_Mutation_p.E804Q|ITIH4_uc011ben.1_Missense_Mutation_p.E769Q NM_002218 NP_002209 Q14624 ITIH4_HUMAN inter-alpha (globulin) inhibitor H4 799 acute-phase response|hyaluronan metabolic process extracellular region serine-type endopeptidase inhibitor activity ovary(2)|central_nervous_system(1) 3 BRCA - Breast invasive adenocarcinoma(193;7e-05)|Kidney(197;0.000656)|KIRC - Kidney renal clear cell carcinoma(197;0.000794)|OV - Ovarian serous cystadenocarcinoma(275;0.0496) ACCACGTGTTCAGGGGATGCG 0.582 NA 48 296 0 0 0 0 POPDC2 64091 broad.mit.edu 37 3 119367500 119367500 + Missense_Mutation SNP C C T TCGA-CN-5374-01A-01D-1434-08 TCGA-CN-5374-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 28d5a97b-3f3d-4595-9034-8491999fcf40 fc1114cb-d2aa-40d5-b507-ff3d97d7eab3 g.chr3:119367500C>T uc003ecx.1 - 3 750 c.616G>A c.(616-618)GAG>AAG p.E206K POPDC2_uc010hqw.1_Missense_Mutation_p.E206K|POPDC2_uc003ecy.1_Missense_Mutation_p.E24K NM_022135 NP_071418 Q9HBU9 POPD2_HUMAN popeye protein 2 206 integral to membrane central_nervous_system(1) 1 GBM - Glioblastoma multiforme(114;0.242) CATGAGGTCTCAGCAGTCAGA 0.473 NA 9 86 0 0 0 0 C3orf15 89876 broad.mit.edu 37 3 119434506 119434506 + Missense_Mutation SNP G G A TCGA-CN-5374-01A-01D-1434-08 TCGA-CN-5374-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 28d5a97b-3f3d-4595-9034-8491999fcf40 fc1114cb-d2aa-40d5-b507-ff3d97d7eab3 g.chr3:119434506G>A uc003ede.3 + 6 675 c.598G>A c.(598-600)GTT>ATT p.V200I C3orf15_uc003edc.2_Missense_Mutation_p.V200I|C3orf15_uc010hqy.1_Missense_Mutation_p.V200I|C3orf15_uc010hqz.2_Missense_Mutation_p.V138I|C3orf15_uc011bjd.1_Missense_Mutation_p.V74I|C3orf15_uc011bje.1_Missense_Mutation_p.V180I|C3orf15_uc010hra.1_5'UTR NM_033364 NP_203528 Q7Z4T9 AAT1_HUMAN AAT1-alpha 200 mitochondrion protein binding ovary(2)|pancreas(1) 3 GBM - Glioblastoma multiforme(114;0.186) GGATGCTGACGTTCAAACAGA 0.463 NA 40 335 0 0 0 0 POLQ 10721 broad.mit.edu 37 3 121258366 121258366 + Missense_Mutation SNP G G C TCGA-CN-5374-01A-01D-1434-08 TCGA-CN-5374-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 28d5a97b-3f3d-4595-9034-8491999fcf40 fc1114cb-d2aa-40d5-b507-ff3d97d7eab3 g.chr3:121258366G>C uc003eee.3 - 4 674 c.545C>G c.(544-546)TCT>TGT p.S182C NM_199420 NP_955452 O75417 DPOLQ_HUMAN DNA polymerase theta 182 Helicase ATP-binding. DNA repair|DNA replication nucleoplasm ATP binding|ATP-dependent helicase activity|damaged DNA binding|DNA-directed DNA polymerase activity|single-stranded DNA-dependent ATPase activity ovary(4)|breast(3)|lung(2)|upper_aerodigestive_tract(1)|skin(1) 11 GBM - Glioblastoma multiforme(114;0.0915) ATCCAATGAAGAGAAATGCCT 0.398 NA DNA_polymerases_(catalytic_subunits) 6 237 0 0 0 0 KALRN 8997 broad.mit.edu 37 3 124418865 124418865 + Nonsense_Mutation SNP C C T TCGA-CN-5374-01A-01D-1434-08 TCGA-CN-5374-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 28d5a97b-3f3d-4595-9034-8491999fcf40 fc1114cb-d2aa-40d5-b507-ff3d97d7eab3 g.chr3:124418865C>T uc003ehg.2 + 56 8108 c.7981C>T c.(7981-7983)CGA>TGA p.R2661* KALRN_uc003ehk.2_Nonsense_Mutation_p.R964* NM_001024660 NP_001019831 O60229 KALRN_HUMAN kalirin, RhoGEF kinase isoform 1 2660 apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport actin cytoskeleton|cytosol ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity large_intestine(2)|ovary(2)|central_nervous_system(1)|skin(1) 6 GGAGTTTGTGCGACTTCCAGA 0.597 NA 5 288 0 0 0 0 TF 7018 broad.mit.edu 37 3 133476692 133476692 + Missense_Mutation SNP C C G TCGA-CN-5374-01A-01D-1434-08 TCGA-CN-5374-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 28d5a97b-3f3d-4595-9034-8491999fcf40 fc1114cb-d2aa-40d5-b507-ff3d97d7eab3 g.chr3:133476692C>G uc003epu.1 + 13 2678 c.950C>G c.(949-951)TCT>TGT p.S317C TF_uc011blt.1_Missense_Mutation_p.S190C|TF_uc003epw.1_Intron|TF_uc003epv.1_Missense_Mutation_p.S317C NM_001063 NP_001054 P02787 TRFE_HUMAN transferrin precursor 317 Transferrin-like 1. cellular iron ion homeostasis|platelet activation|platelet degranulation|transferrin transport|transmembrane transport apical plasma membrane|basal plasma membrane|coated pit|early endosome|endocytic vesicle|endosome membrane|extracellular region|late endosome|perinuclear region of cytoplasm|recycling endosome|stored secretory granule ferric iron binding ovary(1)|skin(1) 2 Aluminium(DB01370)|Bismuth(DB01402)|Iron Dextran(DB00893) TTTAAGGACTCTGCCCACGGG 0.458 NA 20 191 0 0 0 0 PLSCR2 57047 broad.mit.edu 37 3 146171886 146171886 + Missense_Mutation SNP A A G TCGA-CN-5374-01A-01D-1434-08 TCGA-CN-5374-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 28d5a97b-3f3d-4595-9034-8491999fcf40 fc1114cb-d2aa-40d5-b507-ff3d97d7eab3 g.chr3:146171886A>G uc003evv.1 - 6 719 c.386T>C c.(385-387)CTA>CCA p.L129P PLSCR2_uc003evw.1_Missense_Mutation_p.L198P NM_020359 NP_065092 Q9NRY7 PLS2_HUMAN phospholipid scramblase 2 129 Cytoplasmic (By similarity). phospholipid scrambling integral to membrane|plasma membrane calcium ion binding|phospholipid scramblase activity 0 AAACTTTGTTAGACATGGGTG 0.373 NA 12 147 0 0 0 0 MME 4311 broad.mit.edu 37 3 154886339 154886339 + Missense_Mutation SNP T T G TCGA-CN-5374-01A-01D-1434-08 TCGA-CN-5374-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 28d5a97b-3f3d-4595-9034-8491999fcf40 fc1114cb-d2aa-40d5-b507-ff3d97d7eab3 g.chr3:154886339T>G uc010hvr.1 + 19 2050 c.1839T>G c.(1837-1839)AGT>AGG p.S613R MME_uc003fab.1_Missense_Mutation_p.S613R|MME_uc003fac.1_Missense_Mutation_p.S613R|MME_uc003fad.1_Missense_Mutation_p.S613R|MME_uc003fae.1_Missense_Mutation_p.S613R NM_007289 NP_009220 P08473 NEP_HUMAN membrane metallo-endopeptidase 613 Extracellular (Potential). cell-cell signaling|proteolysis integral to plasma membrane metal ion binding|metalloendopeptidase activity|protein binding ovary(2)|central_nervous_system(1) 3 all_neural(597;0.00391)|Myeloproliferative disorder(1037;0.0122) LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.135) Candoxatril(DB00616) AGTCTGCAAGTAACTTTAAGG 0.408 NA 50 156 0 0 0 0 PLCH1 23007 broad.mit.edu 37 3 155203166 155203166 + Missense_Mutation SNP C C T TCGA-CN-5374-01A-01D-1434-08 TCGA-CN-5374-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 28d5a97b-3f3d-4595-9034-8491999fcf40 fc1114cb-d2aa-40d5-b507-ff3d97d7eab3 g.chr3:155203166C>T uc011bok.1 - 22 3254 c.2977G>A c.(2977-2979)GAA>AAA p.E993K PLCH1_uc011boj.1_Missense_Mutation_p.E993K|PLCH1_uc011bol.1_Missense_Mutation_p.E955K NM_001130960 NP_001124432 Q4KWH8 PLCH1_HUMAN phospholipase C eta 1 isoform a 993 lipid catabolic process|phosphatidylinositol-mediated signaling membrane calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity skin(3)|ovary(1) 4 Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114) TCTTTTCCTTCAATGTCTTTT 0.453 NA 13 198 0 0 0 0 TACC3 10460 broad.mit.edu 37 4 1730363 1730363 + Missense_Mutation SNP G G A TCGA-CN-5374-01A-01D-1434-08 TCGA-CN-5374-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 28d5a97b-3f3d-4595-9034-8491999fcf40 fc1114cb-d2aa-40d5-b507-ff3d97d7eab3 g.chr4:1730363G>A uc003gdo.2 + 4 1342 c.1234G>A c.(1234-1236)GAC>AAC p.D412N TACC3_uc010ibz.2_Missense_Mutation_p.D412N|TACC3_uc003gdp.2_Intron|TACC3_uc010ica.2_5'Flank NM_006342 NP_006333 Q9Y6A5 TACC3_HUMAN transforming, acidic coiled-coil containing 412 centrosome ovary(1)|central_nervous_system(1) 2 Breast(71;0.212)|all_epithelial(65;0.241) OV - Ovarian serous cystadenocarcinoma(23;0.00765)|Epithelial(3;0.0126) CAAAATGGATGACCCAAACTT 0.632 NA 25 95 0 0 0 0 JAKMIP1 152789 broad.mit.edu 37 4 6064157 6064157 + Missense_Mutation SNP C C T TCGA-CN-5374-01A-01D-1434-08 TCGA-CN-5374-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 28d5a97b-3f3d-4595-9034-8491999fcf40 fc1114cb-d2aa-40d5-b507-ff3d97d7eab3 g.chr4:6064157C>T uc003giu.3 - 10 1718 c.1442G>A c.(1441-1443)CGA>CAA p.R481Q JAKMIP1_uc010idb.1_Missense_Mutation_p.R481Q|JAKMIP1_uc010idc.1_Missense_Mutation_p.R296Q|JAKMIP1_uc010idd.1_Missense_Mutation_p.R481Q|JAKMIP1_uc011bwc.1_Missense_Mutation_p.R316Q|JAKMIP1_uc003giv.3_Missense_Mutation_p.R481Q|JAKMIP1_uc010ide.2_Missense_Mutation_p.R481Q NM_144720 NP_653321 Q96N16 JKIP1_HUMAN janus kinase and microtubule interacting protein 481 Mediates interaction with TYK2 and GABBR1. protein transport cytoplasm|membrane|microtubule|peripheral to membrane of membrane fraction|ribonucleoprotein complex GABA receptor binding|RNA binding large_intestine(1)|pancreas(1)|ovary(1)|skin(1) 4 AGCCTCCTCTCGGGCTGTGGC 0.473 NA 17 71 0 0 0 0 GUCY1A3 2982 broad.mit.edu 37 4 156638419 156638419 + Missense_Mutation SNP G G C TCGA-CN-5374-01A-01D-1434-08 TCGA-CN-5374-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 28d5a97b-3f3d-4595-9034-8491999fcf40 fc1114cb-d2aa-40d5-b507-ff3d97d7eab3 g.chr4:156638419G>C uc003iov.2 + 9 2217 c.1681G>C c.(1681-1683)GAT>CAT p.D561H GUCY1A3_uc010iqc.2_Missense_Mutation_p.D561H|GUCY1A3_uc003iow.2_Missense_Mutation_p.D561H|GUCY1A3_uc010iqd.2_Missense_Mutation_p.D560H|GUCY1A3_uc003iox.2_Missense_Mutation_p.D561H|GUCY1A3_uc003ioz.2_Missense_Mutation_p.D326H|GUCY1A3_uc003ioy.2_Missense_Mutation_p.D561H|GUCY1A3_uc010iqe.2_Missense_Mutation_p.D326H|GUCY1A3_uc003ipa.2_RNA|GUCY1A3_uc003ipb.2_Missense_Mutation_p.D561H NM_000856 NP_000847 Q02108 GCYA3_HUMAN guanylate cyclase 1, soluble, alpha 3 isoform A 561 Guanylate cyclase. blood circulation|intracellular signal transduction|nitric oxide mediated signal transduction|platelet activation guanylate cyclase complex, soluble GTP binding|guanylate cyclase activity|heme binding|receptor activity central_nervous_system(2)|ovary(1)|skin(1) 4 all_hematologic(180;0.24) Renal(120;0.0854) COAD - Colon adenocarcinoma(41;0.17) GGAGCTCTCTGATGAAGTTAT 0.438 NA 18 70 0 0 0 0 NPY5R 4889 broad.mit.edu 37 4 164272702 164272702 + Missense_Mutation SNP G G T TCGA-CN-5374-01A-01D-1434-08 TCGA-CN-5374-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 28d5a97b-3f3d-4595-9034-8491999fcf40 fc1114cb-d2aa-40d5-b507-ff3d97d7eab3 g.chr4:164272702G>T uc003iqn.2 + 4 1459 c.1277G>T c.(1276-1278)GGG>GTG p.G426V NM_006174 NP_006165 Q15761 NPY5R_HUMAN neuropeptide Y receptor Y5 426 Helical; Name=7; (Potential). cardiac left ventricle morphogenesis|outflow tract morphogenesis integral to plasma membrane lung(6)|skin(1) 7 all_hematologic(180;0.166) Prostate(90;0.109) ATTCTATATGGGTTTCTTAAT 0.333 NA 24 131 1.11e-09 1.21e-09 1 0 IRX1 79192 broad.mit.edu 37 5 3599879 3599879 + Missense_Mutation SNP G G A TCGA-CN-5374-01A-01D-1434-08 TCGA-CN-5374-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 28d5a97b-3f3d-4595-9034-8491999fcf40 fc1114cb-d2aa-40d5-b507-ff3d97d7eab3 g.chr5:3599879G>A uc003jde.2 + 2 869 c.817G>A c.(817-819)GAC>AAC p.D273N NM_024337 NP_077313 P78414 IRX1_HUMAN iroquois homeobox protein 1 273 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity ovary(1)|pancreas(1) 2 GGCAGCAGCCGACGTTCTCAA 0.726 NA 8 8 0 0 0 0 NPR3 4883 broad.mit.edu 37 5 32783030 32783030 + Missense_Mutation SNP G G A TCGA-CN-5374-01A-01D-1434-08 TCGA-CN-5374-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 28d5a97b-3f3d-4595-9034-8491999fcf40 fc1114cb-d2aa-40d5-b507-ff3d97d7eab3 g.chr5:32783030G>A uc003jhv.2 + 6 1540 c.1322G>A c.(1321-1323)CGT>CAT p.R441H NPR3_uc010iuo.2_Missense_Mutation_p.R225H|NPR3_uc011cnz.1_Missense_Mutation_p.R225H|NPR3_uc003jhu.2_Missense_Mutation_p.R441H NM_000908 NP_000899 P17342 ANPRC_HUMAN natriuretic peptide receptor C/guanylate cyclase 441 Extracellular (Potential). osteoclast proliferation|positive regulation of urine volume|regulation of blood pressure|regulation of osteoblast proliferation|skeletal system development integral to membrane hormone binding|natriuretic peptide receptor activity ovary(1)|central_nervous_system(1) 2 Nesiritide(DB04899) AAAGAAGGTCGTTTTGAAATG 0.398 NA 9 25 0 0 0 0 SPEF2 79925 broad.mit.edu 37 5 35705876 35705876 + Silent SNP T T C TCGA-CN-5374-01A-01D-1434-08 TCGA-CN-5374-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 28d5a97b-3f3d-4595-9034-8491999fcf40 fc1114cb-d2aa-40d5-b507-ff3d97d7eab3 g.chr5:35705876T>C uc003jjo.2 + 18 2742 c.2631T>C c.(2629-2631)ATT>ATC p.I877I SPEF2_uc003jjq.3_Silent_p.I872I|SPEF2_uc003jjp.1_Silent_p.I363I NM_024867 NP_079143 Q9C093 SPEF2_HUMAN KPL2 protein isoform 1 877 Potential. 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) TAAAAGAAATTCTTACGACTG 0.279 NA 3 73 0 0 0 0 ESM1 11082 broad.mit.edu 37 5 54275189 54275189 + Missense_Mutation SNP C C T TCGA-CN-5374-01A-01D-1434-08 TCGA-CN-5374-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 28d5a97b-3f3d-4595-9034-8491999fcf40 fc1114cb-d2aa-40d5-b507-ff3d97d7eab3 g.chr5:54275189C>T uc003jpk.2 - 3 595 c.526G>A c.(526-528)GTA>ATA p.V176I ESM1_uc010ivt.2_Missense_Mutation_p.V126I NM_007036 NP_008967 Q9NQ30 ESM1_HUMAN endothelial cell-specific molecule 1 isoform a 176 angiogenesis|regulation of cell growth extracellular region growth factor activity|insulin-like growth factor binding 0 Lung NSC(810;4.08e-05)|Breast(144;0.0433)|Prostate(74;0.116) Lung(15;0.23) TTCCTCATTACGGGAGACCCG 0.438 NA 35 196 0 0 0 0 MAN2A1 4124 broad.mit.edu 37 5 109152986 109152986 + Silent SNP C C G TCGA-CN-5374-01A-01D-1434-08 TCGA-CN-5374-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 28d5a97b-3f3d-4595-9034-8491999fcf40 fc1114cb-d2aa-40d5-b507-ff3d97d7eab3 g.chr5:109152986C>G uc003kou.1 + 13 2919 c.1956C>G c.(1954-1956)GTC>GTG p.V652V NM_002372 NP_002363 Q16706 MA2A1_HUMAN mannosidase, alpha, class 2A, member 1 652 Lumenal (Potential). mannose metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine Golgi membrane|integral to membrane alpha-mannosidase activity|carbohydrate binding|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity|zinc ion binding ovary(1)|central_nervous_system(1)|pancreas(1) 3 all_cancers(142;8.66e-07)|all_epithelial(76;7.73e-09)|Prostate(80;0.000303)|Lung NSC(167;0.0186)|all_lung(232;0.0241)|Ovarian(225;0.0444)|Colorectal(57;0.0959)|Breast(839;0.244) OV - Ovarian serous cystadenocarcinoma(64;2.17e-10)|Epithelial(69;1.37e-09)|COAD - Colon adenocarcinoma(37;0.141) ACCTTGTGGTCTATAATCCTT 0.338 NA 24 179 0 0 0 0 PCDHB11 56125 broad.mit.edu 37 5 140579531 140579531 + Missense_Mutation SNP C C T TCGA-CN-5374-01A-01D-1434-08 TCGA-CN-5374-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 28d5a97b-3f3d-4595-9034-8491999fcf40 fc1114cb-d2aa-40d5-b507-ff3d97d7eab3 g.chr5:140579531C>T uc003liy.2 + 1 184 c.184C>T c.(184-186)CGG>TGG p.R62W PCDHB11_uc011daj.1_Intron NM_018931 NP_061754 Q9Y5F2 PCDBB_HUMAN protocadherin beta 11 precursor 62 Extracellular (Potential).|Cadherin 1. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to plasma membrane calcium ion binding skin(3)|ovary(2)|upper_aerodigestive_tract(1) 6 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) ACTGTCCTCACGGGGGGCTCG 0.507 NA 7 185 0 0 0 0 PCDH12 51294 broad.mit.edu 37 5 141336463 141336463 + Silent SNP G G A rs148884293 by1000genomes TCGA-CN-5374-01A-01D-1434-08 TCGA-CN-5374-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 28d5a97b-3f3d-4595-9034-8491999fcf40 fc1114cb-d2aa-40d5-b507-ff3d97d7eab3 g.chr5:141336463G>A uc003llx.2 - 1 2165 c.954C>T c.(952-954)TAC>TAT p.Y318Y NM_016580 NP_057664 Q9NPG4 PCD12_HUMAN protocadherin 12 precursor 318 Extracellular (Potential).|Cadherin 3. neuron recognition integral to plasma membrane calcium ion binding ovary(3) 3 all_hematologic(541;0.0999) KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CATCCACCTCGTAGGCAGGGT 0.517 NA 16 98 0 0 0 0 ANXA6 309 broad.mit.edu 37 5 150514043 150514043 + Missense_Mutation SNP C C A TCGA-CN-5374-01A-01D-1434-08 TCGA-CN-5374-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 28d5a97b-3f3d-4595-9034-8491999fcf40 fc1114cb-d2aa-40d5-b507-ff3d97d7eab3 g.chr5:150514043C>A uc003ltl.1 - 8 643 c.491G>T c.(490-492)GGA>GTA p.G164V ANXA6_uc011dcp.1_Missense_Mutation_p.G132V|ANXA6_uc003ltm.1_Missense_Mutation_p.G164V|ANXA6_uc003ltn.1_Intron|ANXA6_uc003lto.1_Intron NM_001155 NP_001146 P08133 ANXA6_HUMAN annexin VI isoform 1 164 melanosome calcium ion binding|calcium-dependent phospholipid binding|protein binding 0 Medulloblastoma(196;0.0912)|all_hematologic(541;0.208) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) CTCCCTGGTTCCCTGGGCAGA 0.542 NA 5 213 0.00116845 0.00121925 1 0 ODZ2 57451 broad.mit.edu 37 5 167645855 167645855 + Missense_Mutation SNP C C G TCGA-CN-5374-01A-01D-1434-08 TCGA-CN-5374-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 28d5a97b-3f3d-4595-9034-8491999fcf40 fc1114cb-d2aa-40d5-b507-ff3d97d7eab3 g.chr5:167645855C>G uc010jjd.2 + 23 4932 c.4932C>G c.(4930-4932)GAC>GAG p.D1644E ODZ2_uc003lzr.3_Missense_Mutation_p.D1414E|ODZ2_uc003lzt.3_Missense_Mutation_p.D1017E|ODZ2_uc010jje.2_Missense_Mutation_p.D908E NM_001122679 NP_001116151 odz, odd Oz/ten-m homolog 2 ovary(6)|central_nervous_system(4) 10 Renal(175;0.00124)|Lung NSC(126;0.136)|all_lung(126;0.242) Medulloblastoma(196;0.0241)|all_neural(177;0.026) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) all cancers(165;0.0444)|OV - Ovarian serous cystadenocarcinoma(192;0.0694)|Epithelial(171;0.124) TCATGCCTGACAACCAGATCA 0.522 NA 27 243 0 0 0 0 FGFR4 2264 broad.mit.edu 37 5 176524631 176524631 + Missense_Mutation SNP C C T TCGA-CN-5374-01A-01D-1434-08 TCGA-CN-5374-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 28d5a97b-3f3d-4595-9034-8491999fcf40 fc1114cb-d2aa-40d5-b507-ff3d97d7eab3 g.chr5:176524631C>T uc003mfl.2 + 18 2530 c.2363C>T c.(2362-2364)CCA>CTA p.P788L FGFR4_uc003mfm.2_Missense_Mutation_p.P788L|FGFR4_uc011dfu.1_Missense_Mutation_p.P720L|FGFR4_uc003mfo.2_Missense_Mutation_p.P748L NM_002011 NP_002002 P22455 FGFR4_HUMAN fibroblast growth factor receptor 4 isoform 1 788 Cytoplasmic (Potential). 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) GACCCCCTGCCATTGGGATCC 0.642 NA TSP Lung(9;0.080) 17 82 0 0 0 0 RREB1 6239 broad.mit.edu 37 6 7229784 7229784 + Silent SNP C C T TCGA-CN-5374-01A-01D-1434-08 TCGA-CN-5374-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 28d5a97b-3f3d-4595-9034-8491999fcf40 fc1114cb-d2aa-40d5-b507-ff3d97d7eab3 g.chr6:7229784C>T uc003mxc.2 + 10 1842 c.1452C>T c.(1450-1452)ATC>ATT p.I484I RREB1_uc003mxb.2_Silent_p.I484I|RREB1_uc010jnx.2_Silent_p.I484I NM_001003698 NP_001003698 Q92766 RREB1_HUMAN ras responsive element binding protein 1 isoform 484 Pro-rich. multicellular organismal development|positive regulation of transcription, DNA-dependent|Ras protein signal transduction|transcription from RNA polymerase II promoter cytoplasm|nuclear speck DNA binding|zinc ion binding ovary(4)|large_intestine(2)|pancreas(2)|skin(2)|breast(1) 11 Ovarian(93;0.0398) all_hematologic(90;0.0384)|Prostate(151;0.191) CCCCTCAGATCAGTCTTCCGC 0.617 NA 11 474 0 0 0 0 GCNT2 2651 broad.mit.edu 37 6 10621646 10621646 + Missense_Mutation SNP G G A TCGA-CN-5374-01A-01D-1434-08 TCGA-CN-5374-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 28d5a97b-3f3d-4595-9034-8491999fcf40 fc1114cb-d2aa-40d5-b507-ff3d97d7eab3 g.chr6:10621646G>A uc010joo.2 + 4 1539 c.988G>A c.(988-990)GAC>AAC p.D330N GCNT2_uc010jol.2_Missense_Mutation_p.D44N|GCNT2_uc010jom.2_RNA|GCNT2_uc010jop.2_RNA|GCNT2_uc003mza.2_RNA|GCNT2_uc003mzc.3_Missense_Mutation_p.D329N|GCNT2_uc003mzd.2_Missense_Mutation_p.D328N|GCNT2_uc003mze.2_Missense_Mutation_p.D330N NM_145649 NP_663624 Q8N0V5 GNT2A_HUMAN glucosaminyl (N-acetyl) transferase 2, 330 Lumenal (Potential). Golgi membrane|integral to membrane N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity ovary(2) 2 Ovarian(93;0.107)|Breast(50;0.148) all_hematologic(90;0.107) KIRC - Kidney renal clear cell carcinoma(1;0.099)|Kidney(1;0.119) AAAGTGGAGTGACATGGAAGA 0.507 NA 6 48 0 0 0 0 KIF13A 63971 broad.mit.edu 37 6 17764821 17764821 + Silent SNP C C T TCGA-CN-5374-01A-01D-1434-08 TCGA-CN-5374-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 28d5a97b-3f3d-4595-9034-8491999fcf40 fc1114cb-d2aa-40d5-b507-ff3d97d7eab3 g.chr6:17764821C>T uc003ncg.3 - 39 5043 c.4938G>A c.(4936-4938)CCG>CCA p.P1646P KIF13A_uc003ncf.2_Silent_p.P1598P|KIF13A_uc003nch.3_Silent_p.P1611P|KIF13A_uc003nci.3_Silent_p.P1598P|KIF13A_uc003nce.1_Silent_p.P197P NM_022113 NP_071396 Q9H1H9 KI13A_HUMAN kinesin family member 13A isoform a 1646 cargo loading into vesicle|cell cycle|cytokinesis|endosome to lysosome transport|Golgi to plasma membrane protein transport|melanosome organization|plus-end-directed vesicle transport along microtubule centrosome|endosome membrane|microtubule|midbody|trans-Golgi network membrane ATP binding|microtubule motor activity|protein binding large_intestine(2)|ovary(2) 4 Breast(50;0.0107)|Ovarian(93;0.016) all_hematologic(90;0.125) all cancers(50;0.0865)|Epithelial(50;0.0974) TGTTTGAGGACGGCCTGAAAT 0.507 NA 10 72 0 0 0 0 KIF13A 63971 broad.mit.edu 37 6 17797042 17797042 + Missense_Mutation SNP C C A TCGA-CN-5374-01A-01D-1434-08 TCGA-CN-5374-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 28d5a97b-3f3d-4595-9034-8491999fcf40 fc1114cb-d2aa-40d5-b507-ff3d97d7eab3 g.chr6:17797042C>A uc003ncg.3 - 23 2905 c.2800G>T c.(2800-2802)GTG>TTG p.V934L KIF13A_uc003ncf.2_Missense_Mutation_p.V934L|KIF13A_uc003nch.3_Missense_Mutation_p.V934L|KIF13A_uc003nci.3_Missense_Mutation_p.V934L NM_022113 NP_071396 Q9H1H9 KI13A_HUMAN kinesin family member 13A isoform a 934 cargo loading into vesicle|cell cycle|cytokinesis|endosome to lysosome transport|Golgi to plasma membrane protein transport|melanosome organization|plus-end-directed vesicle transport along microtubule centrosome|endosome membrane|microtubule|midbody|trans-Golgi network membrane ATP binding|microtubule motor activity|protein binding large_intestine(2)|ovary(2) 4 Breast(50;0.0107)|Ovarian(93;0.016) all_hematologic(90;0.125) all cancers(50;0.0865)|Epithelial(50;0.0974) GTTACATTCACCACATAGTCC 0.423 NA 12 66 0.00010058 0.000106301 1 0 HIST1H3I 8354 broad.mit.edu 37 6 27839826 27839826 + Missense_Mutation SNP C C A TCGA-CN-5374-01A-01D-1434-08 TCGA-CN-5374-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 28d5a97b-3f3d-4595-9034-8491999fcf40 fc1114cb-d2aa-40d5-b507-ff3d97d7eab3 g.chr6:27839826C>A uc003njy.2 - 1 274 c.268G>T c.(268-270)GTG>TTG p.V90L NM_003533 NP_003524 P68431 H31_HUMAN histone cluster 1, H3i 90 blood coagulation|nucleosome assembly|regulation of gene silencing|S phase nucleoplasm|nucleosome DNA binding|protein binding ovary(1) 1 AGCGCCATCACCGCCGAGCTC 0.567 NA 9 189 1.13e-05 1.2e-05 1 0 ZNF165 7718 broad.mit.edu 37 6 28056699 28056699 + Missense_Mutation SNP G G C TCGA-CN-5374-01A-01D-1434-08 TCGA-CN-5374-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 28d5a97b-3f3d-4595-9034-8491999fcf40 fc1114cb-d2aa-40d5-b507-ff3d97d7eab3 g.chr6:28056699G>C uc003nkg.2 + 5 1993 c.909G>C c.(907-909)TGG>TGC p.W303C ZNF165_uc003nkh.2_Missense_Mutation_p.W303C|ZNF165_uc003nki.3_Missense_Mutation_p.W303C|ZSCAN12P1_uc003nkj.3_5'Flank NM_003447 NP_003438 P49910 ZN165_HUMAN zinc finger protein 165 303 C2H2-type 1; degenerate. viral reproduction nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding 0 GCTTCAAATGGAACTCAGATT 0.363 NA 22 44 0 0 0 0 CUL7 9820 broad.mit.edu 37 6 43006428 43006428 + Silent SNP C C T TCGA-CN-5374-01A-01D-1434-08 TCGA-CN-5374-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 28d5a97b-3f3d-4595-9034-8491999fcf40 fc1114cb-d2aa-40d5-b507-ff3d97d7eab3 g.chr6:43006428C>T uc003otq.2 - 24 4746 c.4443G>A c.(4441-4443)GCG>GCA p.A1481A CUL7_uc010jyg.2_Silent_p.A760A|CUL7_uc011dvb.1_Silent_p.A1565A|CUL7_uc010jyh.2_Silent_p.A474A|KLC4_uc003otr.1_5'Flank NM_014780 NP_055595 Q14999 CUL7_HUMAN cullin 7 1481 interspecies interaction between organisms|ubiquitin-dependent protein catabolic process|vasculogenesis anaphase-promoting complex|mitochondrion ubiquitin protein ligase binding ovary(3)|kidney(1) 4 all cancers(41;0.00231)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0442)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188) CCACAGAGACCGCCTTCAGAG 0.577 NA 19 149 0 0 0 0 GTPBP2 54676 broad.mit.edu 37 6 43590532 43590532 + Silent SNP G G A TCGA-CN-5374-01A-01D-1434-08 TCGA-CN-5374-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 28d5a97b-3f3d-4595-9034-8491999fcf40 fc1114cb-d2aa-40d5-b507-ff3d97d7eab3 g.chr6:43590532G>A uc003ovs.2 - 10 1342 c.1305C>T c.(1303-1305)TGC>TGT p.C435C GTPBP2_uc010jyv.2_Silent_p.C347C|GTPBP2_uc003ovt.1_Silent_p.C435C NM_019096 NP_061969 Q9BX10 GTPB2_HUMAN GTP binding protein 2 435 GTP binding|GTPase activity liver(1)|skin(1) 2 all_cancers(18;9.36e-06)|Lung NSC(15;0.00161)|all_lung(25;0.004) all cancers(41;0.000501)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|STAD - Stomach adenocarcinoma(11;0.0826)|OV - Ovarian serous cystadenocarcinoma(102;0.167) CCCCCTCACGGCAAATCCCAC 0.597 NA 3 46 0 0 0 0 TDRD6 221400 broad.mit.edu 37 6 46657374 46657374 + Nonsense_Mutation SNP G G A TCGA-CN-5374-01A-01D-1434-08 TCGA-CN-5374-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 28d5a97b-3f3d-4595-9034-8491999fcf40 fc1114cb-d2aa-40d5-b507-ff3d97d7eab3 g.chr6:46657374G>A uc003oyj.2 + 1 1509 c.1509G>A c.(1507-1509)TGG>TGA p.W503* TDRD6_uc010jze.2_Nonsense_Mutation_p.W497* NM_001010870 NP_001010870 O60522 TDRD6_HUMAN tudor domain containing 6 503 cell differentiation|multicellular organismal development|spermatogenesis chromatoid body nucleic acid binding breast(3)|ovary(2)|skin(1) 6 Lung(136;0.192) CTGAGTTTTGGATTAGGTTGA 0.408 NA 24 181 0 0 0 0 MAP3K7 6885 broad.mit.edu 37 6 91257806 91257806 + Missense_Mutation SNP C C T TCGA-CN-5374-01A-01D-1434-08 TCGA-CN-5374-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 28d5a97b-3f3d-4595-9034-8491999fcf40 fc1114cb-d2aa-40d5-b507-ff3d97d7eab3 g.chr6:91257806C>T uc003pnz.1 - 10 1202 c.1040G>A c.(1039-1041)CGC>CAC p.R347H MAP3K7_uc003poa.1_Missense_Mutation_p.R347H|MAP3K7_uc003pob.1_Missense_Mutation_p.R347H|MAP3K7_uc003poc.1_Missense_Mutation_p.R347H NM_145331 NP_663304 O43318 M3K7_HUMAN mitogen-activated protein kinase kinase kinase 7 347 activation of MAPK activity|activation of NF-kappaB-inducing kinase activity|histone H3 acetylation|I-kappaB phosphorylation|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-2 production|positive regulation of JUN kinase activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of T cell cytokine production|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transforming growth factor beta receptor signaling pathway Ada2/Gcn5/Ada3 transcription activator complex|cytosol|endosome membrane ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein binding|protein binding ovary(2)|lung(2)|upper_aerodigestive_tract(1)|stomach(1) 6 all_cancers(76;6.4e-08)|Acute lymphoblastic leukemia(125;1.43e-09)|Prostate(29;9.32e-09)|all_hematologic(105;3.69e-06)|all_epithelial(107;0.000187)|Ovarian(999;0.0164) OV - Ovarian serous cystadenocarcinoma(136;2.05e-11)|all cancers(137;3.25e-11)|GBM - Glioblastoma multiforme(226;0.0416)|BRCA - Breast invasive adenocarcinoma(108;0.0429) TGATTCTAAGCGCTTAATAGT 0.343 NA 5 84 0 0 0 0 MANEA 79694 broad.mit.edu 37 6 96054094 96054094 + Missense_Mutation SNP C C G TCGA-CN-5374-01A-01D-1434-08 TCGA-CN-5374-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 28d5a97b-3f3d-4595-9034-8491999fcf40 fc1114cb-d2aa-40d5-b507-ff3d97d7eab3 g.chr6:96054094C>G uc003poo.1 + 5 1342 c.1202C>G c.(1201-1203)TCT>TGT p.S401C NM_024641 NP_078917 Q5SRI9 MANEA_HUMAN mannosidase, endo-alpha 401 Catalytic (Probable).|Lumenal (Potential). post-translational protein modification|protein N-linked glycosylation via asparagine Golgi membrane|integral to membrane glycoprotein endo-alpha-1,2-mannosidase activity ovary(2)|breast(1) 3 all_cancers(76;1.01e-06)|Acute lymphoblastic leukemia(125;3.58e-09)|all_hematologic(75;1.22e-06)|all_epithelial(107;0.00433)|Colorectal(196;0.0341) BRCA - Breast invasive adenocarcinoma(108;0.148) TCTATCACCTCTTTTAATGAG 0.428 NA 10 104 0 0 0 0 AIM1 202 broad.mit.edu 37 6 106973015 106973015 + Missense_Mutation SNP G G C TCGA-CN-5374-01A-01D-1434-08 TCGA-CN-5374-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 28d5a97b-3f3d-4595-9034-8491999fcf40 fc1114cb-d2aa-40d5-b507-ff3d97d7eab3 g.chr6:106973015G>C uc003prh.2 + 3 3516 c.3029G>C c.(3028-3030)AGA>ACA p.R1010T NM_001624 NP_001615 Q9Y4K1 AIM1_HUMAN absent in melanoma 1 1010 sugar binding breast(4)|ovary(2)|upper_aerodigestive_tract(1)|large_intestine(1)|skin(1) 9 Breast(9;0.0138)|all_epithelial(6;0.169) all_cancers(87;4.67e-25)|all_epithelial(87;5.46e-21)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|Colorectal(196;3.46e-05)|all_lung(197;5.94e-05)|Lung NSC(302;7.26e-05)|Ovarian(999;0.00473) Epithelial(6;0.00114)|all cancers(7;0.00726)|BRCA - Breast invasive adenocarcinoma(8;0.0114)|OV - Ovarian serous cystadenocarcinoma(5;0.0305) all cancers(137;1.73e-50)|Epithelial(106;2.42e-48)|OV - Ovarian serous cystadenocarcinoma(136;1.51e-27)|BRCA - Breast invasive adenocarcinoma(108;0.00104)|GBM - Glioblastoma multiforme(226;0.00858) CAGACACTTAGAGGAAGTGTC 0.373 NA 7 169 0 0 0 0 SOBP 55084 broad.mit.edu 37 6 107955074 107955074 + Silent SNP C C T TCGA-CN-5374-01A-01D-1434-08 TCGA-CN-5374-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 28d5a97b-3f3d-4595-9034-8491999fcf40 fc1114cb-d2aa-40d5-b507-ff3d97d7eab3 g.chr6:107955074C>T uc003prx.2 + 6 1530 c.1026C>T c.(1024-1026)GTC>GTT p.V342V NM_018013 NP_060483 A7XYQ1 SOBP_HUMAN sine oculis binding protein homolog 342 metal ion binding ovary(1) 1 all_cancers(87;5.26e-06)|Acute lymphoblastic leukemia(125;2.87e-08)|all_hematologic(75;1.14e-06)|all_epithelial(87;0.00193)|Colorectal(196;0.156) BRCA - Breast invasive adenocarcinoma(108;0.026)|all cancers(137;0.087)|Epithelial(106;0.104)|OV - Ovarian serous cystadenocarcinoma(136;0.154) ACTGCTCTGTCACTAAAATCC 0.642 NA 22 123 0 0 0 0 UTRN 7402 broad.mit.edu 37 6 145118996 145118996 + Missense_Mutation SNP A A C TCGA-CN-5374-01A-01D-1434-08 TCGA-CN-5374-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 28d5a97b-3f3d-4595-9034-8491999fcf40 fc1114cb-d2aa-40d5-b507-ff3d97d7eab3 g.chr6:145118996A>C uc003qkt.2 + 63 9207 c.9115A>C c.(9115-9117)ATA>CTA p.I3039L NM_007124 NP_009055 P46939 UTRO_HUMAN utrophin 3039 Interaction with SYNM. 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) GAAAGAGTTTATAGATTGGAT 0.378 NA 14 89 0 0 0 0 RMND1 55005 broad.mit.edu 37 6 151766520 151766520 + Nonsense_Mutation SNP G G A TCGA-CN-5374-01A-01D-1434-08 TCGA-CN-5374-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 28d5a97b-3f3d-4595-9034-8491999fcf40 fc1114cb-d2aa-40d5-b507-ff3d97d7eab3 g.chr6:151766520G>A uc003qoi.2 - 2 607 c.427C>T c.(427-429)CAG>TAG p.Q143* RMND1_uc011eeq.1_5'Flank|RMND1_uc003qoj.2_Nonsense_Mutation_p.Q143*|RMND1_uc011eer.1_Nonsense_Mutation_p.Q143* NM_017909 NP_060379 Q9NWS8 RMND1_HUMAN required for meiotic nuclear division 1 homolog 143 0 Ovarian(120;0.125) BRCA - Breast invasive adenocarcinoma(37;0.146) OV - Ovarian serous cystadenocarcinoma(155;6.8e-11) CTCTTCACCTGTGGGAAGTCT 0.438 NA 54 114 0 0 0 0 RBM16 22828 broad.mit.edu 37 6 155131214 155131214 + Nonsense_Mutation SNP C C G TCGA-CN-5374-01A-01D-1434-08 TCGA-CN-5374-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 28d5a97b-3f3d-4595-9034-8491999fcf40 fc1114cb-d2aa-40d5-b507-ff3d97d7eab3 g.chr6:155131214C>G uc003qqa.2 + 13 1524 c.1292C>G c.(1291-1293)TCA>TGA p.S431* RBM16_uc011efj.1_Nonsense_Mutation_p.S497*|RBM16_uc011efk.1_Nonsense_Mutation_p.S476*|RBM16_uc003qpz.2_Nonsense_Mutation_p.S431*|RBM16_uc010kji.2_Nonsense_Mutation_p.S452* NM_014892 NP_055707 Q9UPN6 SCAF8_HUMAN RNA-binding motif protein 16 431 Arg-rich. mRNA processing|RNA splicing nuclear matrix|spliceosomal complex nucleotide binding|RNA binding|RNA polymerase core enzyme binding 0 Ovarian(120;0.196) OV - Ovarian serous cystadenocarcinoma(155;2.33e-15)|BRCA - Breast invasive adenocarcinoma(81;0.00524) AGAAAGCGATCACGCTCCCGC 0.413 NA 34 210 0 0 0 0 PDE10A 10846 broad.mit.edu 37 6 165746557 165746557 + Missense_Mutation SNP G G A TCGA-CN-5374-01A-01D-1434-08 TCGA-CN-5374-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 28d5a97b-3f3d-4595-9034-8491999fcf40 fc1114cb-d2aa-40d5-b507-ff3d97d7eab3 g.chr6:165746557G>A uc003qun.2 - 23 2538 c.2297C>T c.(2296-2298)TCA>TTA p.S766L PDE10A_uc011egj.1_RNA|PDE10A_uc011egk.1_Missense_Mutation_p.S696L|PDE10A_uc003quo.2_Missense_Mutation_p.S776L NM_006661 NP_006652 Q9Y233 PDE10_HUMAN phosphodiesterase 10A isoform 2 766 platelet activation|signal transduction cytosol 3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cAMP binding|cGMP binding|metal ion binding ovary(3)|skin(2) 5 Breast(66;0.000425)|Prostate(117;0.104)|Ovarian(120;0.221) OV - Ovarian serous cystadenocarcinoma(33;1.5e-17)|BRCA - Breast invasive adenocarcinoma(81;1.8e-06)|GBM - Glioblastoma multiforme(31;1.92e-05) Dipyridamole(DB00975) GGATGGGGATGAAATCCAGGT 0.502 NA 30 185 0 0 0 0 BRP44L 51660 broad.mit.edu 37 6 166796324 166796324 + Missense_Mutation SNP C C T TCGA-CN-5374-01A-01D-1434-08 TCGA-CN-5374-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 28d5a97b-3f3d-4595-9034-8491999fcf40 fc1114cb-d2aa-40d5-b507-ff3d97d7eab3 g.chr6:166796324C>T uc011egn.1 - 1 163 c.41G>A c.(40-42)CGA>CAA p.R14Q BRP44L_uc003qva.2_RNA|BRP44L_uc010kkj.1_Missense_Mutation_p.R14Q NM_016098 NP_057182 Q9Y5U8 BR44L_HUMAN brain protein 44-like 14 R -> Q (in Ref. 2; AAD34124). mitochondrion central_nervous_system(1) 1 Breast(66;0.000148)|Prostate(117;0.109)|Ovarian(120;0.199) OV - Ovarian serous cystadenocarcinoma(33;1.8e-19)|BRCA - Breast invasive adenocarcinoma(81;4.68e-06)|GBM - Glioblastoma multiforme(31;0.000122) ATCCTTGCTTCGGACATAGTC 0.687 NA 3 26 0 0 0 0 ZNF12 7559 broad.mit.edu 37 7 6732045 6732045 + Silent SNP G G C TCGA-CN-5374-01A-01D-1434-08 TCGA-CN-5374-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 28d5a97b-3f3d-4595-9034-8491999fcf40 fc1114cb-d2aa-40d5-b507-ff3d97d7eab3 g.chr7:6732045G>C uc003sqt.1 - 5 1082 c.528C>G c.(526-528)CTC>CTG p.L176L ZNF12_uc011jxa.1_Silent_p.L14L|ZNF12_uc003sqs.1_Silent_p.L138L NM_016265 NP_057349 P17014 ZNF12_HUMAN zinc finger protein 12 isoform a 176 negative regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 Ovarian(82;0.0776) UCEC - Uterine corpus endometrioid carcinoma (126;0.0231) GCTTAATATGGAGGAGTGATT 0.343 NA 12 90 0 0 0 0 MACC1 346389 broad.mit.edu 37 7 20198241 20198241 + Silent SNP G G A TCGA-CN-5374-01A-01D-1434-08 TCGA-CN-5374-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 28d5a97b-3f3d-4595-9034-8491999fcf40 fc1114cb-d2aa-40d5-b507-ff3d97d7eab3 g.chr7:20198241G>A uc003sus.3 - 5 2052 c.1743C>T c.(1741-1743)CTC>CTT p.L581L MACC1_uc010kug.2_Silent_p.L581L NM_182762 NP_877439 Q6ZN28 MACC1_HUMAN putative binding protein 7a5 581 SH3. 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 TACCTTCCCCGAGGAGAGCTA 0.418 NA 13 301 0 0 0 0 SP4 6671 broad.mit.edu 37 7 21550789 21550789 + Missense_Mutation SNP G G A TCGA-CN-5374-01A-01D-1434-08 TCGA-CN-5374-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 28d5a97b-3f3d-4595-9034-8491999fcf40 fc1114cb-d2aa-40d5-b507-ff3d97d7eab3 g.chr7:21550789G>A uc003sva.2 + 6 2438 c.2257G>A c.(2257-2259)GAG>AAG p.E753K SP4_uc003svb.2_Missense_Mutation_p.E440K NM_003112 NP_003103 Q02446 SP4_HUMAN Sp4 transcription factor 753 regulation of transcription from RNA polymerase II promoter nucleus DNA binding|transcription coactivator activity|zinc ion binding ovary(3)|skin(2) 5 ATCTGTTACAGAGGTGCTTGG 0.448 NA 22 98 0 0 0 0 PPP1R9A 55607 broad.mit.edu 37 7 94881081 94881081 + Missense_Mutation SNP G G C TCGA-CN-5374-01A-01D-1434-08 TCGA-CN-5374-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 28d5a97b-3f3d-4595-9034-8491999fcf40 fc1114cb-d2aa-40d5-b507-ff3d97d7eab3 g.chr7:94881081G>C uc003unp.2 + 10 2620 c.2338G>C c.(2338-2340)GAT>CAT p.D780H PPP1R9A_uc010lfj.2_Missense_Mutation_p.D802H|PPP1R9A_uc011kif.1_Missense_Mutation_p.D780H|PPP1R9A_uc003unq.2_Missense_Mutation_p.D780H|PPP1R9A_uc011kig.1_Missense_Mutation_p.D780H NM_017650 NP_060120 Q9ULJ8 NEB1_HUMAN protein phosphatase 1, regulatory (inhibitor) 780 Interacts with TGN38 (By similarity).|Potential. cell junction|synapse|synaptosome actin binding ovary(2)|haematopoietic_and_lymphoid_tissue(1)|skin(1) 4 all_cancers(62;9.12e-11)|all_epithelial(64;4.34e-09) STAD - Stomach adenocarcinoma(171;0.0031) AAGAGAGCTTGATTTCATCAA 0.343 NA HNSCC(28;0.073) 7 58 0 0 0 0 BCAP29 55973 broad.mit.edu 37 7 107236385 107236385 + Missense_Mutation SNP C C G TCGA-CN-5374-01A-01D-1434-08 TCGA-CN-5374-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 28d5a97b-3f3d-4595-9034-8491999fcf40 fc1114cb-d2aa-40d5-b507-ff3d97d7eab3 g.chr7:107236385C>G uc003vej.2 + 5 757 c.418C>G c.(418-420)CAA>GAA p.Q140E BCAP29_uc011kly.1_Missense_Mutation_p.Q46E|BCAP29_uc011klz.1_Missense_Mutation_p.Q140E|BCAP29_uc011kma.1_Missense_Mutation_p.Q140E NM_018844 NP_061332 Q9UHQ4 BAP29_HUMAN B-cell receptor-associated protein BAP29 isoform 140 Cytoplasmic (Potential). apoptosis|intracellular protein transport|vesicle-mediated transport endoplasmic reticulum membrane|integral to membrane large_intestine(1)|ovary(1) 2 ACTTAAAACTCAAGCAGAAAA 0.299 NA 16 108 0 0 0 0 GPR85 54329 broad.mit.edu 37 7 112724579 112724579 + Silent SNP A A G TCGA-CN-5374-01A-01D-1434-08 TCGA-CN-5374-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 28d5a97b-3f3d-4595-9034-8491999fcf40 fc1114cb-d2aa-40d5-b507-ff3d97d7eab3 g.chr7:112724579A>G uc010ljv.2 - 2 715 c.198T>C c.(196-198)GAT>GAC p.D66D GPR85_uc003vgp.1_Silent_p.D66D|GPR85_uc003vgq.2_Silent_p.D66D|GPR85_uc010ljw.1_Silent_p.D66D NM_001146266 NP_001139738 P60893 GPR85_HUMAN G protein-coupled receptor 85 66 Helical; Name=2; (Potential). integral to membrane|plasma membrane G-protein coupled receptor activity ovary(1)|central_nervous_system(1) 2 ATCTGAGGATATCTGAACAGC 0.433 NA 17 126 0 0 0 0 ASZ1 136991 broad.mit.edu 37 7 117067495 117067495 + Missense_Mutation SNP C C T TCGA-CN-5374-01A-01D-1434-08 TCGA-CN-5374-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 28d5a97b-3f3d-4595-9034-8491999fcf40 fc1114cb-d2aa-40d5-b507-ff3d97d7eab3 g.chr7:117067495C>T uc003vjb.2 - 1 83 c.20G>A c.(19-21)CGA>CAA p.R7Q ASZ1_uc011kno.1_Missense_Mutation_p.R7Q|ASZ1_uc011knp.1_5'UTR NM_130768 NP_570124 Q8WWH4 ASZ1_HUMAN ankyrin repeat, SAM and basic leucine zipper 7 cell differentiation|DNA methylation involved in gamete generation|gene silencing by RNA|male meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis pi-body signal transducer activity central_nervous_system(2)|ovary(1) 3 Lung NSC(10;0.00156)|all_lung(10;0.00175) STAD - Stomach adenocarcinoma(10;0.000512) TGGCAGGCCTCGCAGCGCGCT 0.697 NA OREG0003439 type=REGULATORY REGION|Gene=ASZ1|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay 3 10 0 0 0 0 GCC1 79571 broad.mit.edu 37 7 127222112 127222112 + Nonsense_Mutation SNP G G A TCGA-CN-5374-01A-01D-1434-08 TCGA-CN-5374-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 28d5a97b-3f3d-4595-9034-8491999fcf40 fc1114cb-d2aa-40d5-b507-ff3d97d7eab3 g.chr7:127222112G>A uc003vma.2 - 2 2702 c.2284C>T c.(2284-2286)CGA>TGA p.R762* NM_024523 NP_078799 Q96CN9 GCC1_HUMAN Golgi coiled-coil protein 1 762 Potential.|GRIP. Golgi membrane|plasma membrane protein binding ovary(2) 2 GTTGGGAGTCGCATTATCACT 0.517 NA 32 131 0 0 0 0 CLCN1 1180 broad.mit.edu 37 7 143020477 143020477 + Missense_Mutation SNP G G C TCGA-CN-5374-01A-01D-1434-08 TCGA-CN-5374-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 28d5a97b-3f3d-4595-9034-8491999fcf40 fc1114cb-d2aa-40d5-b507-ff3d97d7eab3 g.chr7:143020477G>C uc003wcr.1 + 6 859 c.772G>C c.(772-774)GAG>CAG p.E258Q CLCN1_uc011ktc.1_5'UTR|CLCN1_uc003wcs.1_RNA|CLCN1_uc010lox.1_Intron|CLCN1_uc010loy.1_Intron NM_000083 NP_000074 P35523 CLCN1_HUMAN chloride channel 1, skeletal muscle 258 muscle contraction chloride channel complex|integral to plasma membrane voltage-gated chloride channel activity ovary(2)|breast(1)|central_nervous_system(1)|skin(1) 5 Melanoma(164;0.205) CGGGGTATATGAGGTAAGGTT 0.607 NA 5 86 0 0 0 0 GIMAP5 55340 broad.mit.edu 37 7 150439815 150439815 + Missense_Mutation SNP G G C TCGA-CN-5374-01A-01D-1434-08 TCGA-CN-5374-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 28d5a97b-3f3d-4595-9034-8491999fcf40 fc1114cb-d2aa-40d5-b507-ff3d97d7eab3 g.chr7:150439815G>C uc003whr.1 + 3 940 c.588G>C c.(586-588)CAG>CAC p.Q196H GIMAP5_uc010lpu.2_Missense_Mutation_p.Q54H NM_018384 NP_060854 Q96F15 GIMA5_HUMAN GTPase, IMAP family member 5 196 Cytoplasmic (Potential). integral to membrane|mitochondrial outer membrane GTP binding ovary(1)|central_nervous_system(1) 2 OV - Ovarian serous cystadenocarcinoma(82;0.0145) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) TGGAGGAGCAGAGGCAGCAGC 0.582 NA 26 66 0 0 0 0 DLGAP2 9228 broad.mit.edu 37 8 1497551 1497551 + Missense_Mutation SNP C C T TCGA-CN-5374-01A-01D-1434-08 TCGA-CN-5374-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 28d5a97b-3f3d-4595-9034-8491999fcf40 fc1114cb-d2aa-40d5-b507-ff3d97d7eab3 g.chr8:1497551C>T uc003wpl.2 + 2 789 c.692C>T c.(691-693)ACG>ATG p.T231M DLGAP2_uc003wpm.2_Missense_Mutation_p.T231M NM_004745 NP_004736 Q9P1A6 DLGP2_HUMAN discs large-associated protein 2 310 neuron-neuron synaptic transmission cell junction|neurofilament|postsynaptic density|postsynaptic membrane protein binding 0 Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846) BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171) ACCTATCGGACGCCCAGCGTG 0.687 NA 13 97 0 0 0 0 RP1 6101 broad.mit.edu 37 8 55541429 55541429 + Missense_Mutation SNP G G A TCGA-CN-5374-01A-01D-1434-08 TCGA-CN-5374-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 28d5a97b-3f3d-4595-9034-8491999fcf40 fc1114cb-d2aa-40d5-b507-ff3d97d7eab3 g.chr8:55541429G>A uc003xsd.1 + 4 5135 c.4987G>A c.(4987-4989)GAA>AAA p.E1663K RP1_uc011ldy.1_Intron NM_006269 NP_006260 P56715 RP1_HUMAN retinitis pigmentosa RP1 protein 1663 axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment microtubule binding skin(7)|ovary(4)|pancreas(1) 12 all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123) OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285) TAATTCTGTGGAATTTCAGTG 0.388 NA 74 225 0 0 0 0 LRRCC1 85444 broad.mit.edu 37 8 86037161 86037161 + Missense_Mutation SNP A A C TCGA-CN-5374-01A-01D-1434-08 TCGA-CN-5374-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 28d5a97b-3f3d-4595-9034-8491999fcf40 fc1114cb-d2aa-40d5-b507-ff3d97d7eab3 g.chr8:86037161A>C uc003ycw.2 + 8 1413 c.1259A>C c.(1258-1260)GAC>GCC p.D420A LRRCC1_uc010lzz.1_RNA|LRRCC1_uc010maa.1_Missense_Mutation_p.D121A|LRRCC1_uc003ycx.2_Missense_Mutation_p.D327A|LRRCC1_uc003ycy.2_Missense_Mutation_p.D400A NM_033402 NP_208325 Q9C099 LRCC1_HUMAN sodium channel associated protein 2 isoform a 420 cell division|mitosis centriole|nucleus 0 CACTCAGAAGACAACACTTAC 0.299 NA 36 89 0 0 0 0 CSMD3 114788 broad.mit.edu 37 8 113323263 113323263 + Missense_Mutation SNP C C A TCGA-CN-5374-01A-01D-1434-08 TCGA-CN-5374-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 28d5a97b-3f3d-4595-9034-8491999fcf40 fc1114cb-d2aa-40d5-b507-ff3d97d7eab3 g.chr8:113323263C>A uc003ynu.2 - 50 7988 c.7829G>T c.(7828-7830)TGC>TTC p.C2610F CSMD3_uc003yns.2_Missense_Mutation_p.C1812F|CSMD3_uc003ynt.2_Missense_Mutation_p.C2570F|CSMD3_uc011lhx.1_Missense_Mutation_p.C2506F|CSMD3_uc003ynw.1_Missense_Mutation_p.C321F NM_198123 NP_937756 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 isoform 1 2610 Extracellular (Potential).|Sushi 14. integral to membrane|plasma membrane ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1) 63 AGACTTTCTGCACACAGCACT 0.463 NA HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 19 141 5.39e-06 5.77e-06 1 0 ENPP2 5168 broad.mit.edu 37 8 120602836 120602836 + Missense_Mutation SNP G G C TCGA-CN-5374-01A-01D-1434-08 TCGA-CN-5374-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 28d5a97b-3f3d-4595-9034-8491999fcf40 fc1114cb-d2aa-40d5-b507-ff3d97d7eab3 g.chr8:120602836G>C uc003yot.1 - 13 1202 c.1116C>G c.(1114-1116)TTC>TTG p.F372L ENPP2_uc003yor.1_Missense_Mutation_p.F11L|ENPP2_uc003yos.1_Missense_Mutation_p.F424L|ENPP2_uc010mdd.1_Missense_Mutation_p.F372L NM_001040092 NP_001035181 Q13822 ENPP2_HUMAN autotaxin isoform 2 preproprotein 372 cellular component movement|chemotaxis|G-protein coupled receptor protein signaling pathway|immune response|phosphate metabolic process|phosphatidylcholine catabolic process|regulation of cell migration extracellular space|integral to plasma membrane alkylglycerophosphoethanolamine phosphodiesterase activity|calcium ion binding|lysophospholipase activity|nucleic acid binding|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|scavenger receptor activity|transcription factor binding|zinc ion binding ovary(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)|large_intestine(1)|kidney(1) 7 Lung NSC(37;5.03e-06)|Ovarian(258;0.0249)|Hepatocellular(40;0.161) STAD - Stomach adenocarcinoma(47;0.00185) AATTACTCAAGAACTCAGTTC 0.353 NA 3 86 0 0 0 0 FAM135B 51059 broad.mit.edu 37 8 139163666 139163666 + Missense_Mutation SNP C C G TCGA-CN-5374-01A-01D-1434-08 TCGA-CN-5374-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 28d5a97b-3f3d-4595-9034-8491999fcf40 fc1114cb-d2aa-40d5-b507-ff3d97d7eab3 g.chr8:139163666C>G uc003yuy.2 - 13 3223 c.3052G>C c.(3052-3054)GAG>CAG p.E1018Q FAM135B_uc003yux.2_Missense_Mutation_p.E919Q|FAM135B_uc003yuz.2_RNA|FAM135B_uc003yva.2_Missense_Mutation_p.E580Q|FAM135B_uc003yvb.2_Missense_Mutation_p.E580Q NM_015912 NP_056996 Q49AJ0 F135B_HUMAN hypothetical protein LOC51059 1018 ovary(7)|skin(2) 9 all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0805) GTAAAGGTCTCTGCAGAAGTC 0.522 NA HNSCC(54;0.14) 31 51 0 0 0 0 KCNK9 51305 broad.mit.edu 37 8 140631107 140631107 + Silent SNP G G A TCGA-CN-5374-01A-01D-1434-08 TCGA-CN-5374-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 28d5a97b-3f3d-4595-9034-8491999fcf40 fc1114cb-d2aa-40d5-b507-ff3d97d7eab3 g.chr8:140631107G>A uc003yvf.1 - 2 583 c.519C>T c.(517-519)ATC>ATT p.I173I KCNK9_uc003yvg.1_Silent_p.I173I|KCNK9_uc003yve.1_RNA NM_016601 NP_057685 Q9NPC2 KCNK9_HUMAN potassium channel, subfamily K, member 9 173 Helical; (Potential). integral to membrane|membrane fraction potassium channel activity|voltage-gated ion channel activity ovary(2)|lung(1) 3 all_cancers(97;3.94e-14)|all_epithelial(106;4.81e-13)|Lung NSC(106;8.18e-05)|all_lung(105;0.00015)|Ovarian(258;0.00235)|Acute lymphoblastic leukemia(118;0.155) Ovarian(118;0.134) BRCA - Breast invasive adenocarcinoma(115;0.0855) CGGCCGCCCCGATGCACAGCG 0.562 NA 12 69 0 0 0 0 TYRP1 7306 broad.mit.edu 37 9 12704633 12704633 + Missense_Mutation SNP G G T TCGA-CN-5374-01A-01D-1434-08 TCGA-CN-5374-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 28d5a97b-3f3d-4595-9034-8491999fcf40 fc1114cb-d2aa-40d5-b507-ff3d97d7eab3 g.chr9:12704633G>T uc003zkv.3 + 6 1367 c.1189G>T c.(1189-1191)GAT>TAT p.D397Y NM_000550 NP_000541 P17643 TYRP1_HUMAN tyrosinase-related protein 1 precursor 397 Lumenal, melanosome (Potential). melanin biosynthetic process clathrin-coated endocytic vesicle membrane|endosome membrane|integral to membrane|melanosome membrane copper ion binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, another compound as one donor, and incorporation of one atom of oxygen|protein heterodimerization activity|protein homodimerization activity lung(1) 1 all_cancers(3;3.1e-05)|all_lung(3;1.7e-06)|Lung NSC(3;2.09e-06)|all_epithelial(3;0.000695)|all_hematologic(3;0.0033)|Acute lymphoblastic leukemia(23;0.0744) GBM - Glioblastoma multiforme(50;9.85e-06) GTCTCCAAATGATCCTATTTT 0.443 NA Oculocutaneous_Albinism 24 169 1.43e-11 1.58e-11 1 0 IARS 3376 broad.mit.edu 37 9 95050073 95050073 + Silent SNP C C T TCGA-CN-5374-01A-01D-1434-08 TCGA-CN-5374-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 28d5a97b-3f3d-4595-9034-8491999fcf40 fc1114cb-d2aa-40d5-b507-ff3d97d7eab3 g.chr9:95050073C>T uc004art.1 - 4 653 c.396G>A c.(394-396)AAG>AAA p.K132K IARS_uc004ars.1_5'UTR|IARS_uc004aru.3_Silent_p.K132K|IARS_uc010mqr.2_Silent_p.K22K|IARS_uc010mqt.2_Intron NM_013417 NP_038203 P41252 SYIC_HUMAN isoleucine tRNA synthetase 132 isoleucyl-tRNA aminoacylation cytosol|nucleus|soluble fraction ATP binding|isoleucine-tRNA ligase activity|protein binding ovary(1)|skin(1) 2 L-Isoleucine(DB00167) CCCAACATACCTTCCACTCAG 0.383 NA 31 176 0 0 0 0 IPPK 64768 broad.mit.edu 37 9 95405069 95405069 + Silent SNP C C T TCGA-CN-5374-01A-01D-1434-08 TCGA-CN-5374-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 28d5a97b-3f3d-4595-9034-8491999fcf40 fc1114cb-d2aa-40d5-b507-ff3d97d7eab3 g.chr9:95405069C>T uc004asl.1 - 7 805 c.528G>A c.(526-528)CAG>CAA p.Q176Q NM_022755 NP_073592 Q9H8X2 IPPK_HUMAN inositol 1,3,4,5,6-pentakisphosphate 2-kinase 176 inositol or phosphatidylinositol phosphorylation cytoplasm|nucleus ATP binding|inositol pentakisphosphate 2-kinase activity ovary(2) 2 ATTTGCTGATCTGCTTCCACT 0.547 NA 8 68 0 0 0 0 TBC1D2 55357 broad.mit.edu 37 9 100971416 100971416 + Missense_Mutation SNP C C T TCGA-CN-5374-01A-01D-1434-08 TCGA-CN-5374-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 28d5a97b-3f3d-4595-9034-8491999fcf40 fc1114cb-d2aa-40d5-b507-ff3d97d7eab3 g.chr9:100971416C>T uc011lvb.1 - 9 1864 c.1684G>A c.(1684-1686)GAG>AAG p.E562K TBC1D2_uc004ayp.2_Missense_Mutation_p.E102K|TBC1D2_uc004ayq.2_Missense_Mutation_p.E562K|TBC1D2_uc004ayr.2_Missense_Mutation_p.E344K|TBC1D2_uc004ayo.3_Missense_Mutation_p.E562K NM_018421 NP_060891 Q9BYX2 TBD2A_HUMAN TBC1 domain family, member 2 562 cell junction|cytoplasmic membrane-bounded vesicle|nucleus Rab GTPase activator activity ovary(3) 3 Myeloproliferative disorder(762;0.0255) OV - Ovarian serous cystadenocarcinoma(323;2.55e-37) AAGCCGTACTCATCATACTTA 0.478 NA 63 342 0 0 0 0 SVEP1 79987 broad.mit.edu 37 9 113220760 113220760 + Silent SNP G G A TCGA-CN-5374-01A-01D-1434-08 TCGA-CN-5374-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 28d5a97b-3f3d-4595-9034-8491999fcf40 fc1114cb-d2aa-40d5-b507-ff3d97d7eab3 g.chr9:113220760G>A uc010mtz.2 - 20 3904 c.3567C>T c.(3565-3567)ATC>ATT p.I1189I SVEP1_uc010mua.1_Silent_p.I1189I NM_153366 NP_699197 Q4LDE5 SVEP1_HUMAN polydom 1189 cell adhesion cytoplasm|extracellular region|membrane calcium ion binding ovary(7) 7 CCTGACTGCTGATTTCATGCC 0.403 NA 6 43 0 0 0 0 ZNF483 158399 broad.mit.edu 37 9 114304895 114304895 + Silent SNP C C T TCGA-CN-5374-01A-01D-1434-08 TCGA-CN-5374-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 28d5a97b-3f3d-4595-9034-8491999fcf40 fc1114cb-d2aa-40d5-b507-ff3d97d7eab3 g.chr9:114304895C>T uc004bff.2 + 6 1904 c.1680C>T c.(1678-1680)TTC>TTT p.F560F ZNF483_uc004bfg.2_Intron NM_133464 NP_597721 Q8TF39 ZN483_HUMAN zinc finger protein 483 isoform a 560 C2H2-type 5. viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding skin(1) 1 GAAAATCCTTCAGTCATAGCT 0.408 NA 16 140 0 0 0 0 ZNF483 158399 broad.mit.edu 37 9 114304990 114304990 + Missense_Mutation SNP C C T TCGA-CN-5374-01A-01D-1434-08 TCGA-CN-5374-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 28d5a97b-3f3d-4595-9034-8491999fcf40 fc1114cb-d2aa-40d5-b507-ff3d97d7eab3 g.chr9:114304990C>T uc004bff.2 + 6 1999 c.1775C>T c.(1774-1776)TCA>TTA p.S592L ZNF483_uc004bfg.2_Intron NM_133464 NP_597721 Q8TF39 ZN483_HUMAN zinc finger protein 483 isoform a 592 C2H2-type 6. viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding skin(1) 1 AGGCAGAATTCATGCCTTACC 0.398 NA 13 104 0 0 0 0 SNX30 401548 broad.mit.edu 37 9 115626607 115626607 + Silent SNP G G A TCGA-CN-5374-01A-01D-1434-08 TCGA-CN-5374-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 28d5a97b-3f3d-4595-9034-8491999fcf40 fc1114cb-d2aa-40d5-b507-ff3d97d7eab3 g.chr9:115626607G>A uc004bgj.3 + 8 1330 c.1182G>A c.(1180-1182)CAG>CAA p.Q394Q SNX30_uc004bgi.3_Silent_p.Q76Q NM_001012994 NP_001013012 Q5VWJ9 SNX30_HUMAN sorting nexin family member 30 394 cell communication|protein transport cytoplasm phosphatidylinositol binding 0 AGAGGTGGCAGAACAACAAGA 0.512 NA 16 77 0 0 0 0 RALGPS1 9649 broad.mit.edu 37 9 129975312 129975312 + Silent SNP G G A TCGA-CN-5374-01A-01D-1434-08 TCGA-CN-5374-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 28d5a97b-3f3d-4595-9034-8491999fcf40 fc1114cb-d2aa-40d5-b507-ff3d97d7eab3 g.chr9:129975312G>A uc004bqo.1 + 17 1803 c.1536G>A c.(1534-1536)CTG>CTA p.L512L RALGPS1_uc011mac.1_Silent_p.L470L|RALGPS1_uc004bqq.3_Silent_p.L462L NM_014636 NP_055451 Q5JS13 RGPS1_HUMAN Ral GEF with PH domain and SH3 binding motif 1 512 Required for stimulation of nucleotide exchange by RALA.|PH. small GTPase mediated signal transduction cytoplasm|plasma membrane guanyl-nucleotide exchange factor activity ovary(1) 1 TCTTCCAGCTGAACAACCCTG 0.542 NA 22 51 0 0 0 0 SARDH 1757 broad.mit.edu 37 9 136578232 136578232 + Missense_Mutation SNP C C G TCGA-CN-5374-01A-01D-1434-08 TCGA-CN-5374-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 28d5a97b-3f3d-4595-9034-8491999fcf40 fc1114cb-d2aa-40d5-b507-ff3d97d7eab3 g.chr9:136578232C>G uc004cep.3 - 9 1299 c.1165G>C c.(1165-1167)GAC>CAC p.D389H SARDH_uc004ceo.2_Missense_Mutation_p.D389H|SARDH_uc011mdn.1_Missense_Mutation_p.D389H|SARDH_uc011mdo.1_Missense_Mutation_p.D221H NM_001134707 NP_001128179 Q9UL12 SARDH_HUMAN sarcosine dehydrogenase precursor 389 glycine catabolic process mitochondrial matrix aminomethyltransferase activity|sarcosine dehydrogenase activity 0 OV - Ovarian serous cystadenocarcinoma(145;3.21e-07)|Epithelial(140;2.37e-06)|all cancers(34;2.75e-05) GGCTTGTGGTCGGGCGTGAAG 0.607 NA 6 23 0 0 0 0 BRD3 8019 broad.mit.edu 37 9 136906945 136906945 + Silent SNP C C T TCGA-CN-5374-01A-01D-1434-08 TCGA-CN-5374-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 28d5a97b-3f3d-4595-9034-8491999fcf40 fc1114cb-d2aa-40d5-b507-ff3d97d7eab3 g.chr9:136906945C>T uc004cew.2 - 8 1532 c.1344G>A c.(1342-1344)TCG>TCA p.S448S BRD3_uc004cex.2_Silent_p.S448S NM_007371 NP_031397 Q15059 BRD3_HUMAN bromodomain containing protein 3 448 nucleus protein binding BRD3/C15orf55(3) stomach(4)|midline_organs(3)|kidney(1) 8 OV - Ovarian serous cystadenocarcinoma(145;1.43e-08)|Epithelial(140;8.41e-08)|all cancers(34;5.21e-07) TGCCTGAGTCCGAAGAGCTCT 0.701 NA T NUT|C15orf55 lethal midline carcinoma of young people 11 39 0 0 0 0 SNAPC4 6621 broad.mit.edu 37 9 139273401 139273401 + Missense_Mutation SNP C C T TCGA-CN-5374-01A-01D-1434-08 TCGA-CN-5374-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 28d5a97b-3f3d-4595-9034-8491999fcf40 fc1114cb-d2aa-40d5-b507-ff3d97d7eab3 g.chr9:139273401C>T uc004chh.2 - 21 2887 c.2878G>A c.(2878-2880)GCA>ACA p.A960T NM_003086 NP_003077 Q5SXM2 SNPC4_HUMAN small nuclear RNA activating complex, 960 Pro-rich. snRNA transcription from RNA polymerase II promoter|snRNA transcription from RNA polymerase III promoter snRNA-activating protein complex DNA binding|sequence-specific DNA binding transcription factor activity 0 Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;5.31e-06)|Epithelial(140;7.13e-06) GGTTTGGCTGCCGCGGGGGCC 0.657 NA 5 13 0 0 0 0 FANCB 2187 broad.mit.edu 37 X 14883405 14883405 + Missense_Mutation SNP G G C TCGA-CN-5374-01A-01D-1434-08 TCGA-CN-5374-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 28d5a97b-3f3d-4595-9034-8491999fcf40 fc1114cb-d2aa-40d5-b507-ff3d97d7eab3 g.chrX:14883405G>C uc004cwg.1 - 3 496 c.228C>G c.(226-228)ATC>ATG p.I76M FANCB_uc004cwh.1_Missense_Mutation_p.I76M NM_001018113 NP_001018123 Q8NB91 FANCB_HUMAN Fanconi anemia complementation group B 76 DNA repair nucleoplasm lung(1) 1 Hepatocellular(33;0.183) TGCAACACATGATTTTTAAAT 0.299 NA Involved_in_tolerance_or_repair_of_DNA_crosslinks Fanconi_Anemia 5 101 0 0 0 0 RGN 9104 broad.mit.edu 37 X 46951163 46951163 + Missense_Mutation SNP G G C TCGA-CN-5374-01A-01D-1434-08 TCGA-CN-5374-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 28d5a97b-3f3d-4595-9034-8491999fcf40 fc1114cb-d2aa-40d5-b507-ff3d97d7eab3 g.chrX:46951163G>C uc004dgz.1 + 6 1618 c.649G>C c.(649-651)GCC>CCC p.A217P RGN_uc004dha.1_Missense_Mutation_p.A217P|RGN_uc010nho.1_Missense_Mutation_p.A164P|RGN_uc010nhp.1_Missense_Mutation_p.A145P NM_152869 NP_690608 Q15493 RGN_HUMAN regucalcin 217 cellular calcium ion homeostasis|positive regulation of ATPase activity|regulation of calcium-mediated signaling cytoplasm|nucleus calcium ion binding|enzyme regulator activity|gluconolactonase activity|zinc ion binding 0 GCTCTGGGTGGCCTGTTACAA 0.458 NA 5 122 0 0 0 0 LPAR4 2846 broad.mit.edu 37 X 78010407 78010407 + Nonsense_Mutation SNP C C G TCGA-CN-5374-01A-01D-1434-08 TCGA-CN-5374-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 28d5a97b-3f3d-4595-9034-8491999fcf40 fc1114cb-d2aa-40d5-b507-ff3d97d7eab3 g.chrX:78010407C>G uc010nme.2 + 2 446 c.41C>G c.(40-42)TCA>TGA p.S14* NM_005296 NP_005287 Q99677 LPAR4_HUMAN lysophosphatidic acid receptor 4 14 Extracellular (Potential). integral to plasma membrane lipid binding|purinergic nucleotide receptor activity, G-protein coupled ovary(3) 3 TTCCAAGATTCAAATTCAAGC 0.448 NA 27 125 0 0 0 0 DACH2 117154 broad.mit.edu 37 X 86068141 86068141 + Silent SNP G G A TCGA-CN-5374-01A-01D-1434-08 TCGA-CN-5374-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 28d5a97b-3f3d-4595-9034-8491999fcf40 fc1114cb-d2aa-40d5-b507-ff3d97d7eab3 g.chrX:86068141G>A uc004eew.2 + 9 1568 c.1398G>A c.(1396-1398)CTG>CTA p.L466L DACH2_uc004eex.2_Silent_p.L453L|DACH2_uc010nmq.2_Silent_p.L332L|DACH2_uc011mra.1_Silent_p.L299L|DACH2_uc010nmr.2_Silent_p.L247L|DACH2_uc004eey.2_Silent_p.L159L|DACH2_uc004eez.2_Silent_p.L149L NM_053281 NP_444511 Q96NX9 DACH2_HUMAN dachshund 2 isoform a 466 Potential.|DACHbox-C. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|nucleotide binding ovary(4)|pancreas(1) 5 AGGGTCTGCTGAAAGTTGCTT 0.363 NA 4 22 0 0 0 0 PRPS1 5631 broad.mit.edu 37 X 106882553 106882553 + Missense_Mutation SNP G G C TCGA-CN-5374-01A-01D-1434-08 TCGA-CN-5374-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 28d5a97b-3f3d-4595-9034-8491999fcf40 fc1114cb-d2aa-40d5-b507-ff3d97d7eab3 g.chrX:106882553G>C uc004ene.3 + 2 356 c.151G>C c.(151-153)GAG>CAG p.E51Q PRPS1_uc010npg.2_Missense_Mutation_p.E51Q|PRPS1_uc011msj.1_Intron NM_002764 NP_002755 P60891 PRPS1_HUMAN phosphoribosyl pyrophosphate synthetase 1 51 5-phosphoribose 1-diphosphate biosynthetic process|hypoxanthine biosynthetic process|nervous system development|nucleoside metabolic process|purine nucleotide biosynthetic process|pyrimidine nucleotide biosynthetic process|ribonucleoside monophosphate biosynthetic process|urate biosynthetic process cytosol ATP binding|kinase activity|magnesium ion binding|protein homodimerization activity|ribose phosphate diphosphokinase activity breast(3)|large_intestine(1) 4 TGTACGTGGAGAGGATGTCTA 0.348 NA 56 289 0 0 0 0 KIAA1210 57481 broad.mit.edu 37 X 118284511 118284511 + Missense_Mutation SNP G G A TCGA-CN-5374-01A-01D-1434-08 TCGA-CN-5374-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 28d5a97b-3f3d-4595-9034-8491999fcf40 fc1114cb-d2aa-40d5-b507-ff3d97d7eab3 g.chrX:118284511G>A uc004era.3 - 1 32 c.32C>T c.(31-33)TCT>TTT p.S11F NM_020721 NP_065772 Q9ULL0 K1210_HUMAN hypothetical protein LOC57481 11 ovary(4)|skin(1) 5 GTGAAAGGCAGAGAAGCCTCG 0.642 NA 21 94 0 0 0 0 ODZ1 10178 broad.mit.edu 37 X 123517613 123517613 + Missense_Mutation SNP C C T TCGA-CN-5374-01A-01D-1434-08 TCGA-CN-5374-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 28d5a97b-3f3d-4595-9034-8491999fcf40 fc1114cb-d2aa-40d5-b507-ff3d97d7eab3 g.chrX:123517613C>T uc004euj.2 - 29 7211 c.7147G>A c.(7147-7149)GGC>AGC p.G2383S ODZ1_uc011muj.1_Missense_Mutation_p.G2389S|ODZ1_uc010nqy.2_Missense_Mutation_p.G2390S NM_014253 NP_055068 Q9UKZ4 TEN1_HUMAN odz, odd Oz/ten-m homolog 1 isoform 3 2383 Extracellular (Potential). immune response|negative regulation of cell proliferation|nervous system development|signal transduction extracellular region heparin binding ovary(11)|breast(4)|large_intestine(2)|skin(2)|pancreas(2)|upper_aerodigestive_tract(1)|lung(1) 23 GTCCATCTGCCAGCAACAACA 0.413 NA 63 131 0 0 0 0 GPC3 2719 broad.mit.edu 37 X 132730493 132730493 + Silent SNP C C T TCGA-CN-5374-01A-01D-1434-08 TCGA-CN-5374-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 28d5a97b-3f3d-4595-9034-8491999fcf40 fc1114cb-d2aa-40d5-b507-ff3d97d7eab3 g.chrX:132730493C>T uc004exe.1 - 7 1738 c.1548G>A c.(1546-1548)GTG>GTA p.V516V GPC3_uc004exd.1_Silent_p.V388V|GPC3_uc010nrn.1_Silent_p.V539V|GPC3_uc011mvh.1_Silent_p.V500V|GPC3_uc010nro.1_Silent_p.V462V NM_004484 NP_004475 P51654 GPC3_HUMAN glypican 3 isoform 2 precursor 516 extracellular space|integral to plasma membrane|proteinaceous extracellular matrix heparan sulfate proteoglycan binding|peptidyl-dipeptidase inhibitor activity lung(2)|prostate(1)|breast(1)|skin(1) 5 Acute lymphoblastic leukemia(192;0.000127) GCTGATTCTTCACTTTTATCA 0.418 NA T|D|Mis|N|F|S Wilms tumour Simpson-Golabi-Behmel_syndrome 15 253 0 0 0 0 RP1L1 94137 broad.mit.edu 37 8 10464991 10465038 + In_Frame_Del DEL TGGGCCTCCCCTTCTGCCTCTGGGGCCTCTATACCTTCTGACTCTGGC TGGGCCTCCCCTTCTGCCTCTGGGGCCTCTATACCTTCTGACTCTGGC - rs75797924 by1000genomes TCGA-CN-5374-01A-01D-1434-08 TCGA-CN-5374-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 28d5a97b-3f3d-4595-9034-8491999fcf40 fc1114cb-d2aa-40d5-b507-ff3d97d7eab3 g.chr8:10464991_10465038delTGGGCCTCCCCTTCTGCCTCTGGGGCCTCTATACCTTCTGACTCTGGC uc003wtc.2 - 4 6799_6846 c.6570_6617delGCCAGAGTCAGAAGGTATAGAGGCCCCAGAGGCAGAAGGGGAGGCCCA c.(6568-6618)CAGCCAGAGTCAGAAGGTATAGAGGCCCCAGAGGCAGAAGGGGAGGCCCAA>CAA p.2190_2206QPESEGIEAPEAEGEAQ>Q NM_178857 NP_849188 Q8IWN7 RP1L1_HUMAN retinitis pigmentosa 1-like 1 2190_2206 intracellular signal transduction ovary(4)|breast(3)|central_nervous_system(1) 8 COAD - Colon adenocarcinoma(149;0.0811) TAACTCTGGTTGGGCCTCCCCTTCTGCCTCTGGGGCCTCTATACCTTCTGACTCTGGCTGGGCCTCCC 0.629 NA 27 445 --- --- --- --- NA NA NA NA