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 MMEL1 79258 broad.mit.edu 37 1 2540804 2540804 + Missense_Mutation SNP G G A TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 901c2ed5-8348-4dd9-a84c-6c0b18d6525e 10c383d7-07ab-4de5-b6e3-e19dd22e0d47 g.chr1:2540804G>A uc001ajy.2 - 6 723 c.509C>T c.(508-510)ACG>ATG p.T170M MMEL1_uc009vlg.1_RNA NM_033467 NP_258428 Q495T6 MMEL1_HUMAN membrane metallo-endopeptidase-like 1 170 Lumenal (Potential). proteolysis extracellular region|integral to membrane|intracellular membrane-bounded organelle metal ion binding|metalloendopeptidase activity 0 all_cancers(77;0.000233)|all_epithelial(69;8.55e-05)|all_lung(157;0.0228)|Lung NSC(156;0.0402)|Ovarian(185;0.0634) all_epithelial(116;1.03e-20)|all_lung(118;5.15e-09)|Lung NSC(185;9.02e-07)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123) Epithelial(90;4.31e-38)|OV - Ovarian serous cystadenocarcinoma(86;8.52e-23)|GBM - Glioblastoma multiforme(42;1.49e-08)|Colorectal(212;4.79e-05)|COAD - Colon adenocarcinoma(227;0.000213)|Kidney(185;0.000371)|BRCA - Breast invasive adenocarcinoma(365;0.00219)|KIRC - Kidney renal clear cell carcinoma(229;0.00571)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.131) GCGGTACAGCGTCCTGGCCTT 0.687 NA 6 5 0 0 0 0 CAMTA1 23261 broad.mit.edu 37 1 7724486 7724486 + Missense_Mutation SNP G G T TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 901c2ed5-8348-4dd9-a84c-6c0b18d6525e 10c383d7-07ab-4de5-b6e3-e19dd22e0d47 g.chr1:7724486G>T uc001aoi.2 + 9 2086 c.1879G>T c.(1879-1881)GTC>TTC p.V627F NM_015215 NP_056030 Q9Y6Y1 CMTA1_HUMAN calmodulin-binding transcription activator 1 627 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus calmodulin binding ovary(5)|central_nervous_system(2)|breast(1)|pancreas(1) 9 Ovarian(185;0.0634) all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388) UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133) ACCCCTCCCCGTCGAGCAGAA 0.652 NA 79 81 2.27e-54 3.15e-54 1 0 NPPB 4879 broad.mit.edu 37 1 11918291 11918291 + Missense_Mutation SNP G G A TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 901c2ed5-8348-4dd9-a84c-6c0b18d6525e 10c383d7-07ab-4de5-b6e3-e19dd22e0d47 g.chr1:11918291G>A uc001atj.2 - 2 470 c.368C>T c.(367-369)TCC>TTC p.S123F NM_002521 NP_002512 P16860 ANFB_HUMAN natriuretic peptide precursor B preproprotein 123 body fluid secretion|cGMP biosynthetic process|negative regulation of angiogenesis|negative regulation of cell growth|positive regulation of renal sodium excretion|positive regulation of urine volume|receptor guanylyl cyclase signaling pathway|regulation of blood pressure|regulation of blood vessel size|regulation of vascular permeability|regulation of vasodilation extracellular space diuretic hormone activity ovary(2) 2 Ovarian(185;0.249) Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;4.88e-06)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|Kidney(185;0.000722)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649) Carvedilol(DB01136)|Nesiritide(DB04899)|Testosterone(DB00624) CAGGCCACTGGAGGAGCTGAT 0.602 NA 23 32 0 0 0 0 EPHA2 1969 broad.mit.edu 37 1 16477390 16477390 + Splice_Site SNP C C G TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 901c2ed5-8348-4dd9-a84c-6c0b18d6525e 10c383d7-07ab-4de5-b6e3-e19dd22e0d47 g.chr1:16477390C>G uc001aya.1 - 2 290 c.153_splice c.e2+1 p.G51_splice EPHA2_uc010oca.1_Splice_Site_p.G51_splice NM_004431 NP_004422 P29317 EPHA2_HUMAN ephrin receptor EphA2 precursor activation of Rac GTPase activity|angiogenesis|apoptosis|cell chemotaxis|negative regulation of protein kinase B signaling cascade|positive regulation of establishment of protein localization in plasma membrane|protein kinase B signaling cascade|regulation of blood vessel endothelial cell migration|regulation of cell adhesion mediated by integrin|regulation of lamellipodium assembly|response to growth factor stimulus focal adhesion|integral to plasma membrane|lamellipodium membrane|ruffle membrane ATP binding|ephrin receptor activity|protein binding lung(3)|central_nervous_system(3)|stomach(2)|ovary(2) 10 Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|Colorectal(212;3.63e-07)|COAD - Colon adenocarcinoma(227;2.25e-05)|BRCA - Breast invasive adenocarcinoma(304;9.58e-05)|Kidney(64;0.000175)|KIRC - Kidney renal clear cell carcinoma(64;0.00261)|STAD - Stomach adenocarcinoma(313;0.00669)|READ - Rectum adenocarcinoma(331;0.0649) Dasatinib(DB01254) GGCTTACATACCCCTTTGCCA 0.453 NA 37 74 0 0 0 0 ARID1A 8289 broad.mit.edu 37 1 27100151 27100151 + Nonsense_Mutation SNP C C A TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 901c2ed5-8348-4dd9-a84c-6c0b18d6525e 10c383d7-07ab-4de5-b6e3-e19dd22e0d47 g.chr1:27100151C>A uc001bmv.1 + 16 4320 c.3947C>A c.(3946-3948)TCG>TAG p.S1316* ARID1A_uc001bmt.1_Nonsense_Mutation_p.S1315*|ARID1A_uc001bmu.1_Nonsense_Mutation_p.S1316*|ARID1A_uc001bmw.1_Nonsense_Mutation_p.S933*|ARID1A_uc001bmx.1_Nonsense_Mutation_p.S162*|ARID1A_uc009vsm.1_5'UTR|ARID1A_uc009vsn.1_5'Flank NM_006015 NP_006006 O14497 ARI1A_HUMAN AT rich interactive domain 1A isoform a 1316 androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent nBAF complex|npBAF complex|SWI/SNF complex DNA binding|protein binding ovary(124)|pancreas(5)|central_nervous_system(3)|endometrium(3)|kidney(3)|skin(2)|upper_aerodigestive_tract(1)|lung(1) 142 all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242) AACCCAGACTCGGGGATGTAT 0.507 NA Mis|N|F|S|D clear cell ovarian carcinoma|RCC 41 38 9.39e-22 1.27e-21 1 0 RLF 6018 broad.mit.edu 37 1 40705888 40705888 + Missense_Mutation SNP G G C TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 901c2ed5-8348-4dd9-a84c-6c0b18d6525e 10c383d7-07ab-4de5-b6e3-e19dd22e0d47 g.chr1:40705888G>C uc001cfc.3 + 8 5545 c.5514G>C c.(5512-5514)GAG>GAC p.E1838D RLF_uc001cfd.3_Missense_Mutation_p.E1529D NM_012421 NP_036553 Q13129 RLF_HUMAN rearranged L-myc fusion 1838 chromosome organization|DNA integration|DNA mediated transformation|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent DNA binding|protein binding|zinc ion binding ovary(2)|pancreas(1) 3 Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;5.87e-19)|Epithelial(16;7.02e-16)|all cancers(16;1.69e-14)|Lung(16;0.0427)|LUSC - Lung squamous cell carcinoma(16;0.0461) CAATTCATGAGAACCTGACTG 0.398 NA 15 85 0 0 0 0 RIMS3 9783 broad.mit.edu 37 1 41101587 41101587 + Splice_Site SNP C C A TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 901c2ed5-8348-4dd9-a84c-6c0b18d6525e 10c383d7-07ab-4de5-b6e3-e19dd22e0d47 g.chr1:41101587C>A uc001cfu.1 - 4 828 c.359_splice c.e4+1 p.T120_splice RIMS3_uc001cfv.1_Splice_Site_p.T120_splice NM_014747 NP_055562 Q9UJD0 RIMS3_HUMAN regulating synaptic membrane exocytosis 3 neurotransmitter transport cell junction|synapse 0 Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;1.47e-17) GCTGCACGCACGTGCCGTCGG 0.667 NA 14 55 1.15e-07 1.36e-07 1 0 EIF2B3 8891 broad.mit.edu 37 1 45444037 45444037 + Missense_Mutation SNP C C T TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 901c2ed5-8348-4dd9-a84c-6c0b18d6525e 10c383d7-07ab-4de5-b6e3-e19dd22e0d47 g.chr1:45444037C>T uc001cmt.1 - 3 371 c.244G>A c.(244-246)GCT>ACT p.A82T EIF2B3_uc001cmu.1_Missense_Mutation_p.A82T|EIF2B3_uc001cmv.1_Missense_Mutation_p.A82T|EIF2B3_uc001cmw.2_Missense_Mutation_p.A82T NM_020365 NP_065098 Q9NR50 EI2BG_HUMAN eukaryotic translation initiation factor 2B, 82 negative regulation of translational initiation in response to stress|oligodendrocyte development|response to glucose stimulus|response to heat|response to peptide hormone stimulus cytosol|eukaryotic translation initiation factor 2B complex nucleotidyltransferase activity|protein binding|translation initiation factor activity ovary(1) 1 Acute lymphoblastic leukemia(166;0.155) CCCATGTCAGCGTCATCAGGA 0.363 NA 62 106 0 0 0 0 WDR78 79819 broad.mit.edu 37 1 67292591 67292591 + Missense_Mutation SNP A A C TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 901c2ed5-8348-4dd9-a84c-6c0b18d6525e 10c383d7-07ab-4de5-b6e3-e19dd22e0d47 g.chr1:67292591A>C uc001dcx.2 - 15 2307 c.2251T>G c.(2251-2253)TAC>GAC p.Y751D WDR78_uc009waw.2_Missense_Mutation_p.Y464D|WDR78_uc009wax.2_RNA NM_024763 NP_079039 Q5VTH9 WDR78_HUMAN WD repeat domain 78 isoform 1 751 WD 5. ovary(2) 2 GCAACGTCGTAAACAACAGAA 0.398 NA 21 94 0 0 0 0 PIGK 10026 broad.mit.edu 37 1 77627356 77627356 + Missense_Mutation SNP C C A TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 901c2ed5-8348-4dd9-a84c-6c0b18d6525e 10c383d7-07ab-4de5-b6e3-e19dd22e0d47 g.chr1:77627356C>A uc001dhk.2 - 7 670 c.625G>T c.(625-627)GCA>TCA p.A209S PIGK_uc010orj.1_Missense_Mutation_p.A133S|PIGK_uc009wbx.2_Missense_Mutation_p.A115S|PIGK_uc001dhl.1_Missense_Mutation_p.A209S NM_005482 NP_005473 Q92643 GPI8_HUMAN phosphatidylinositol glycan anchor biosynthesis, 209 Lumenal (Potential). attachment of GPI anchor to protein|C-terminal protein lipidation|protein thiol-disulfide exchange|proteolysis GPI-anchor transamidase complex cysteine-type endopeptidase activity|GPI-anchor transamidase activity|protein binding ovary(2)|pancreas(1) 3 TACATGGATGCTCCTTGGCAA 0.358 NA 35 59 1.36e-19 1.82e-19 1 0 COL11A1 1301 broad.mit.edu 37 1 103405901 103405901 + Silent SNP A A T TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 901c2ed5-8348-4dd9-a84c-6c0b18d6525e 10c383d7-07ab-4de5-b6e3-e19dd22e0d47 g.chr1:103405901A>T uc001dul.2 - 43 3684 c.3366T>A c.(3364-3366)CCT>CCA p.P1122P COL11A1_uc001duk.2_Silent_p.P318P|COL11A1_uc001dum.2_Silent_p.P1134P|COL11A1_uc001dun.2_Silent_p.P1083P|COL11A1_uc009weh.2_Silent_p.P1006P NM_001854 NP_001845 P12107 COBA1_HUMAN alpha 1 type XI collagen isoform A 1122 Triple-helical region. collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception collagen type XI extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging ovary(6)|breast(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1) 12 all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181) Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248) CGTCTTCCCCAGGGGAGCCGG 0.463 NA 25 39 0 0 0 0 GJA8 2703 broad.mit.edu 37 1 147380527 147380527 + Missense_Mutation SNP A A T TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 901c2ed5-8348-4dd9-a84c-6c0b18d6525e 10c383d7-07ab-4de5-b6e3-e19dd22e0d47 g.chr1:147380527A>T uc001epu.1 + 2 508 c.445A>T c.(445-447)AGG>TGG p.R149W NM_005267 NP_005258 P48165 CXA8_HUMAN connexin 50 149 Cytoplasmic (Potential). cell communication|visual perception connexon complex|integral to plasma membrane channel activity ovary(2)|large_intestine(2)|breast(1)|skin(1) 6 all_hematologic(923;0.0276) GACCCTGCTGAGGACCTACAT 0.607 NA 20 115 0 0 0 0 FMO4 2329 broad.mit.edu 37 1 171310604 171310604 + Missense_Mutation SNP G G T rs67000791 TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 901c2ed5-8348-4dd9-a84c-6c0b18d6525e 10c383d7-07ab-4de5-b6e3-e19dd22e0d47 g.chr1:171310604G>T uc001gho.2 + 10 1520 c.1303G>T c.(1303-1305)GAT>TAT p.D435Y NM_002022 NP_002013 P31512 FMO4_HUMAN flavin containing monooxygenase 4 435 xenobiotic metabolic process integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding kidney(2)|skin(1) 3 all_cancers(6;3.9e-08)|all_hematologic(923;0.088)|Acute lymphoblastic leukemia(37;0.181) TGCCTACATGGATGATATCGC 0.473 NA 18 34 1.45e-14 1.89e-14 1 0 QSOX1 5768 broad.mit.edu 37 1 180159622 180159622 + Missense_Mutation SNP C C T rs143670617 byFrequency TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 901c2ed5-8348-4dd9-a84c-6c0b18d6525e 10c383d7-07ab-4de5-b6e3-e19dd22e0d47 g.chr1:180159622C>T uc001gnz.2 + 10 1270 c.1195C>T c.(1195-1197)CAT>TAT p.H399Y QSOX1_uc001gny.2_Missense_Mutation_p.H399Y|QSOX1_uc001goa.2_Missense_Mutation_p.H399Y NM_002826 NP_002817 O00391 QSOX1_HUMAN quiescin Q6 sulfhydryl oxidase 1 isoform a 399 ERV/ALR sulfhydryl oxidase. cell redox homeostasis|protein thiol-disulfide exchange extracellular space|integral to Golgi membrane flavin-linked sulfhydryl oxidase activity ovary(1)|central_nervous_system(1) 2 GAGTGAGCCGCATTTCCGGGG 0.557 NA 50 121 0 0 0 0 RGL1 23179 broad.mit.edu 37 1 183876207 183876207 + Missense_Mutation SNP C C T TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 901c2ed5-8348-4dd9-a84c-6c0b18d6525e 10c383d7-07ab-4de5-b6e3-e19dd22e0d47 g.chr1:183876207C>T uc001gqo.2 + 14 1691 c.1534C>T c.(1534-1536)CGG>TGG p.R512W RGL1_uc010pof.1_Missense_Mutation_p.R317W|RGL1_uc001gqm.2_Missense_Mutation_p.R547W|RGL1_uc010pog.1_Missense_Mutation_p.R510W|RGL1_uc010poh.1_Missense_Mutation_p.R510W|RGL1_uc010poi.1_Missense_Mutation_p.R483W NM_015149 NP_055964 Q9NZL6 RGL1_HUMAN ral guanine nucleotide dissociation 512 cellular lipid metabolic process|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction intracellular protein binding|Ral guanyl-nucleotide exchange factor activity breast(5)|ovary(4)|lung(2) 11 GCCCAAGCCTCGGAAGAGCAT 0.557 NA 7 8 0 0 0 0 ASPM 259266 broad.mit.edu 37 1 197091420 197091420 + Missense_Mutation SNP C C G TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 901c2ed5-8348-4dd9-a84c-6c0b18d6525e 10c383d7-07ab-4de5-b6e3-e19dd22e0d47 g.chr1:197091420C>G uc001gtu.2 - 15 3867 c.3610G>C c.(3610-3612)GAG>CAG p.E1204Q ASPM_uc001gtv.2_Missense_Mutation_p.E1204Q|ASPM_uc001gtw.3_Intron NM_018136 NP_060606 Q8IZT6 ASPM_HUMAN asp (abnormal spindle)-like, microcephaly 1204 CH 2. mitosis cytoplasm|nucleus calmodulin binding ovary(4)|central_nervous_system(2) 6 TTGTATAGCTCTGAAGTATTT 0.363 NA 18 45 0 0 0 0 PIK3C2B 5287 broad.mit.edu 37 1 204425081 204425081 + Missense_Mutation SNP G G A TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 901c2ed5-8348-4dd9-a84c-6c0b18d6525e 10c383d7-07ab-4de5-b6e3-e19dd22e0d47 g.chr1:204425081G>A uc001haw.2 - 12 2325 c.1846C>T c.(1846-1848)CGC>TGC p.R616C PIK3C2B_uc010pqv.1_Missense_Mutation_p.R616C|PIK3C2B_uc001hax.1_Missense_Mutation_p.R616C|PIK3C2B_uc009xbd.1_RNA NM_002646 NP_002637 O00750 P3C2B_HUMAN phosphoinositide-3-kinase, class 2 beta 616 cell communication|phosphatidylinositol-mediated signaling endoplasmic reticulum|microsome|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity|protein binding lung(2)|breast(2)|stomach(1)|prostate(1)|central_nervous_system(1) 7 all_cancers(21;0.00347)|all_neural(3;0.0218)|Glioma(3;0.0382)|all_epithelial(62;0.171)|Breast(84;0.179)|Prostate(682;0.227) GBM - Glioblastoma multiforme(2;2.69e-45)|all cancers(3;1.66e-30)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)|Epithelial(59;0.193) TCATGCTTGCGGCTCCCGGGC 0.612 NA 39 64 0 0 0 0 KCTD3 51133 broad.mit.edu 37 1 215752341 215752341 + Splice_Site SNP A A G TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 901c2ed5-8348-4dd9-a84c-6c0b18d6525e 10c383d7-07ab-4de5-b6e3-e19dd22e0d47 g.chr1:215752341A>G uc001hks.2 + 7 692 c.398_splice c.e7-2 p.G133_splice KCTD3_uc001hkt.2_Splice_Site_p.G133_splice|KCTD3_uc010pub.1_Splice_Site_p.G31_splice|KCTD3_uc009xdn.2_5'Flank NM_016121 NP_057205 Q9Y597 KCTD3_HUMAN potassium channel tetramerisation domain voltage-gated potassium channel complex protein binding|voltage-gated potassium channel activity ovary(3) 3 all cancers(67;0.0164)|OV - Ovarian serous cystadenocarcinoma(81;0.019)|GBM - Glioblastoma multiforme(131;0.0862)|Epithelial(68;0.13) TTCTCTTTATAGGTATTCCTA 0.333 NA 4 28 0 0 0 0 EGLN1 54583 broad.mit.edu 37 1 231556851 231556851 + Missense_Mutation SNP T T G TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 901c2ed5-8348-4dd9-a84c-6c0b18d6525e 10c383d7-07ab-4de5-b6e3-e19dd22e0d47 g.chr1:231556851T>G uc001huv.2 - 1 3940 c.784A>C c.(784-786)AAG>CAG p.K262Q EGLN1_uc001huu.3_5'Flank NM_022051 NP_071334 Q9GZT9 EGLN1_HUMAN egl nine homolog 1 262 negative regulation of sequence-specific DNA binding transcription factor activity|oxygen homeostasis|response to hypoxia cytosol iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptidyl-proline dioxygenase activity|protein binding|zinc ion binding 0 Prostate(94;0.194)|Acute lymphoblastic leukemia(190;0.244) Vitamin C(DB00126) CCGGGCTCCTTGCCCTCGATC 0.592 NA 58 66 0 0 0 0 SLC35F3 148641 broad.mit.edu 37 1 234367481 234367481 + Missense_Mutation SNP G G A TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 901c2ed5-8348-4dd9-a84c-6c0b18d6525e 10c383d7-07ab-4de5-b6e3-e19dd22e0d47 g.chr1:234367481G>A uc001hwa.1 + 2 623 c.395G>A c.(394-396)CGA>CAA p.R132Q SLC35F3_uc001hvy.1_Missense_Mutation_p.R201Q NM_173508 NP_775779 Q8IY50 S35F3_HUMAN solute carrier family 35, member F3 132 transport integral to membrane ovary(2) 2 Ovarian(103;0.0454) all_cancers(173;0.145)|Prostate(94;0.0885) OV - Ovarian serous cystadenocarcinoma(106;0.00531) GTGAAGCAGCGATACAGGTAG 0.597 NA 23 138 0 0 0 0 TRIM58 25893 broad.mit.edu 37 1 248028155 248028155 + Missense_Mutation SNP T T A TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 901c2ed5-8348-4dd9-a84c-6c0b18d6525e 10c383d7-07ab-4de5-b6e3-e19dd22e0d47 g.chr1:248028155T>A uc001ido.2 + 3 713 c.665T>A c.(664-666)CTG>CAG p.L222Q NM_015431 NP_056246 Q8NG06 TRI58_HUMAN tripartite motif-containing 58 222 Potential. intracellular zinc ion binding skin(3)|ovary(1)|pancreas(1)|lung(1)|central_nervous_system(1) 7 all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) all_cancers(173;0.0286) OV - Ovarian serous cystadenocarcinoma(106;0.0319) AAGAGCCGGCTGGTCCAGCAG 0.692 NA 7 22 0 0 0 0 OR2W3 343171 broad.mit.edu 37 1 248059405 248059405 + Missense_Mutation SNP G G A rs139271211 TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 901c2ed5-8348-4dd9-a84c-6c0b18d6525e 10c383d7-07ab-4de5-b6e3-e19dd22e0d47 g.chr1:248059405G>A uc001idp.1 + 3 786 c.517G>A c.(517-519)GAG>AAG p.E173K OR2W3_uc010pzb.1_Missense_Mutation_p.E173K NM_001001957 NP_001001957 Q7Z3T1 OR2W3_HUMAN olfactory receptor, family 2, subfamily W, 173 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|breast(1)|pancreas(1) 3 all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0319) TGGGCACCACGAGGTGGACCA 0.657 NA 41 76 0 0 0 0 C10orf18 54906 broad.mit.edu 37 10 5789010 5789010 + Nonsense_Mutation SNP C C G TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 901c2ed5-8348-4dd9-a84c-6c0b18d6525e 10c383d7-07ab-4de5-b6e3-e19dd22e0d47 g.chr10:5789010C>G uc001iij.2 + 15 4251 c.3626C>G c.(3625-3627)TCA>TGA p.S1209* C10orf18_uc001iik.2_Nonsense_Mutation_p.S53* NM_017782 NP_060252 Q5VWN6 CJ018_HUMAN hypothetical protein LOC54906 1209 ovary(1)|central_nervous_system(1) 2 GTGGACTCATCATCAGCCTCT 0.473 NA 19 69 0 0 0 0 C10orf18 54906 broad.mit.edu 37 10 5790610 5790610 + Silent SNP G G A TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 901c2ed5-8348-4dd9-a84c-6c0b18d6525e 10c383d7-07ab-4de5-b6e3-e19dd22e0d47 g.chr10:5790610G>A uc001iij.2 + 15 5851 c.5226G>A c.(5224-5226)AAG>AAA p.K1742K C10orf18_uc001iik.2_Silent_p.K586K NM_017782 NP_060252 Q5VWN6 CJ018_HUMAN hypothetical protein LOC54906 1742 ovary(1)|central_nervous_system(1) 2 GTGAAACAAAGGAGCTATTGA 0.498 NA 13 40 0 0 0 0 FBXO18 84893 broad.mit.edu 37 10 5953002 5953002 + Silent SNP G G T TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 901c2ed5-8348-4dd9-a84c-6c0b18d6525e 10c383d7-07ab-4de5-b6e3-e19dd22e0d47 g.chr10:5953002G>T uc001iis.2 + 6 1217 c.1122G>T c.(1120-1122)ACG>ACT p.T374T FBXO18_uc001iir.2_Silent_p.T300T|FBXO18_uc009xig.2_Silent_p.T300T|FBXO18_uc001iit.2_Silent_p.T425T NM_178150 NP_835363 Q8NFZ0 FBX18_HUMAN F-box only protein, helicase, 18 isoform 2 374 DNA repair nucleus ATP binding|ATP-dependent DNA helicase activity|DNA binding ovary(2)|skin(1) 3 CCAGCTCCACGGTGACCATGC 0.582 NA 17 96 1.34e-09 1.64e-09 1 0 PARD3 56288 broad.mit.edu 37 10 34690830 34690830 + Missense_Mutation SNP C C T TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 901c2ed5-8348-4dd9-a84c-6c0b18d6525e 10c383d7-07ab-4de5-b6e3-e19dd22e0d47 g.chr10:34690830C>T uc010qej.1 - 6 730 c.730G>A c.(730-732)GAA>AAA p.E244K PARD3_uc010qek.1_Missense_Mutation_p.E244K|PARD3_uc010qel.1_Missense_Mutation_p.E244K|PARD3_uc010qem.1_Missense_Mutation_p.E244K|PARD3_uc010qen.1_Missense_Mutation_p.E244K|PARD3_uc010qeo.1_Missense_Mutation_p.E244K|PARD3_uc010qep.1_Missense_Mutation_p.E200K|PARD3_uc010qeq.1_Missense_Mutation_p.E200K|PARD3_uc001ixo.1_5'UTR|PARD3_uc001ixp.1_Missense_Mutation_p.E109K|PARD3_uc001ixq.1_Missense_Mutation_p.E244K|PARD3_uc001ixr.1_Missense_Mutation_p.E244K|PARD3_uc001ixt.1_Missense_Mutation_p.E65K|PARD3_uc001ixu.1_Missense_Mutation_p.E200K NM_019619 NP_062565 Q8TEW0 PARD3_HUMAN partitioning-defective protein 3 homolog 244 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|asymmetric cell division|axonogenesis|cell cycle|establishment of epithelial cell polarity|protein complex assembly|protein targeting to membrane|tight junction assembly cell cortex|cytoskeleton|cytosol|endomembrane system|tight junction phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4,5-bisphosphate binding|protein binding ovary(1) 1 Breast(68;0.0707) TTATCCTCTTCTGTCCCATCC 0.428 NA 58 119 0 0 0 0 ANKRD30A 91074 broad.mit.edu 37 10 37419231 37419231 + Nonsense_Mutation SNP T T G TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 901c2ed5-8348-4dd9-a84c-6c0b18d6525e 10c383d7-07ab-4de5-b6e3-e19dd22e0d47 g.chr10:37419231T>G uc001iza.1 + 3 366 c.267T>G c.(265-267)TAT>TAG p.Y89* NM_052997 NP_443723 Q9BXX3 AN30A_HUMAN ankyrin repeat domain 30A 145 ANK 3. nucleus DNA binding|sequence-specific DNA binding transcription factor activity ovary(7)|breast(1)|skin(1) 9 CTCTCCATTATGCTGTTTATA 0.433 NA 16 32 0 0 0 0 AGAP4 119016 broad.mit.edu 37 10 46322017 46322017 + Silent SNP C C T TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 901c2ed5-8348-4dd9-a84c-6c0b18d6525e 10c383d7-07ab-4de5-b6e3-e19dd22e0d47 g.chr10:46322017C>T uc001jcx.3 - 7 1464 c.1338G>A c.(1336-1338)TCG>TCA p.S446S AGAP4_uc010qfl.1_Silent_p.S469S|AGAP4_uc001jcy.3_Silent_p.S361S|uc010qfm.1_5'Flank NM_133446 NP_597703 Q96P64 AGAP4_HUMAN ArfGAP with GTPase domain, ankyrin repeat and PH 446 Arf-GAP. regulation of ARF GTPase activity ARF GTPase activator activity|zinc ion binding ovary(1) 1 TGTTTTGGATCGACTGCAGGG 0.552 NA 63 48 0 0 0 0 SLC18A3 6572 broad.mit.edu 37 10 50820232 50820232 + Silent SNP C C T TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 901c2ed5-8348-4dd9-a84c-6c0b18d6525e 10c383d7-07ab-4de5-b6e3-e19dd22e0d47 g.chr10:50820232C>T uc001jhw.2 + 1 1886 c.1446C>T c.(1444-1446)CGC>CGT p.R482R 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 482 Cytoplasmic (Potential). neurotransmitter secretion clathrin sculpted acetylcholine transport vesicle membrane|integral to plasma membrane|membrane fraction acetylcholine transmembrane transporter activity ovary(2) 2 GTTCCGAGCGCGATGTGCTGC 0.667 NA 40 42 0 0 0 0 ABCC2 1244 broad.mit.edu 37 10 101591889 101591889 + Splice_Site SNP G G A TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 901c2ed5-8348-4dd9-a84c-6c0b18d6525e 10c383d7-07ab-4de5-b6e3-e19dd22e0d47 g.chr10:101591889G>A uc001kqf.2 + 23 3397 c.3258_splice c.e23+1 p.G1086_splice NM_000392 NP_000383 Q92887 MRP2_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), apical plasma membrane|integral to plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity ovary(1) 1 Colorectal(252;0.234) Epithelial(162;2.77e-10)|all cancers(201;2.47e-08) Adenosine triphosphate(DB00171)|Norgestimate(DB00957)|Pravastatin(DB00175)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138) GTTTGCCGGCGTAAGTATCTC 0.433 NA 10 63 0 0 0 0 GFRA1 2674 broad.mit.edu 37 10 118029071 118029071 + Missense_Mutation SNP T T A TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 901c2ed5-8348-4dd9-a84c-6c0b18d6525e 10c383d7-07ab-4de5-b6e3-e19dd22e0d47 g.chr10:118029071T>A uc001lcj.2 - 4 1060 c.362A>T c.(361-363)TAT>TTT p.Y121F GFRA1_uc001lci.2_Missense_Mutation_p.Y121F|GFRA1_uc009xyr.2_Missense_Mutation_p.Y121F NM_005264 NP_005255 P56159 GFRA1_HUMAN GDNF family receptor alpha 1 isoform a 121 axon guidance anchored to membrane|extrinsic to membrane|plasma membrane glial cell-derived neurotrophic factor receptor activity ovary(1)|pancreas(1) 2 Lung NSC(174;0.21) all cancers(201;0.0337) AACTGGTTCATATGGGGAATC 0.403 NA 8 49 0 0 0 0 DOCK1 1793 broad.mit.edu 37 10 129183096 129183096 + Missense_Mutation SNP G G C TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 901c2ed5-8348-4dd9-a84c-6c0b18d6525e 10c383d7-07ab-4de5-b6e3-e19dd22e0d47 g.chr10:129183096G>C uc001ljt.2 + 38 3851 c.3787G>C c.(3787-3789)GGG>CGG p.G1263R DOCK1_uc010qun.1_Missense_Mutation_p.G1284R|DOCK1_uc009yaq.2_Missense_Mutation_p.G258R NM_001380 NP_001371 Q14185 DOCK1_HUMAN dedicator of cytokinesis 1 1263 DHR-2. apoptosis|axon guidance|blood coagulation|integrin-mediated signaling pathway|phagocytosis, engulfment|small GTPase mediated signal transduction cytosol|membrane GTP binding|GTPase activator activity|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding central_nervous_system(4)|ovary(2)|lung(1)|breast(1)|kidney(1) 9 all_epithelial(44;2.3e-07)|all_lung(145;0.00466)|Lung NSC(174;0.00685)|Colorectal(57;0.0107)|Renal(717;0.0113)|Breast(234;0.0492)|all_neural(114;0.108)|all_hematologic(284;0.14) BRCA - Breast invasive adenocarcinoma(275;0.0221)|Colorectal(40;0.115) CCAGCGGGACGGGTACCAGGC 0.562 NA 13 71 0 0 0 0 UBQLNL 143630 broad.mit.edu 37 11 5537198 5537198 + Missense_Mutation SNP T T A TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 901c2ed5-8348-4dd9-a84c-6c0b18d6525e 10c383d7-07ab-4de5-b6e3-e19dd22e0d47 g.chr11:5537198T>A uc001maz.3 - 1 759 c.474A>T c.(472-474)AAA>AAT p.K158N HBG2_uc001mak.1_Intron NM_145053 NP_659490 Q8IYU4 UBQLN_HUMAN ubiquilin-like 158 large_intestine(2)|skin(1) 3 Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212) Epithelial(150;1.92e-09)|BRCA - Breast invasive adenocarcinoma(625;0.136) GGGTATGCACTTTGGGTGCAT 0.507 NA 28 49 0 0 0 0 OR52N4 390072 broad.mit.edu 37 11 5776293 5776293 + Missense_Mutation SNP C C G TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 901c2ed5-8348-4dd9-a84c-6c0b18d6525e 10c383d7-07ab-4de5-b6e3-e19dd22e0d47 g.chr11:5776293C>G uc001mbu.2 + 1 371 c.323C>G c.(322-324)ACC>AGC p.T108S TRIM5_uc001mbq.1_Intron|TRIM22_uc009yet.1_Intron NM_001005175 NP_001005175 Q8NGI2 O52N4_HUMAN olfactory receptor, family 52, subfamily N, 108 Helical; Name=3; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|skin(1) 2 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) Epithelial(150;1.87e-10)|LUSC - Lung squamous cell carcinoma(625;0.114)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.197) TTCACCCACACCTTCACAGGG 0.483 NA 18 72 0 0 0 0 OR52N5 390075 broad.mit.edu 37 11 5799295 5799295 + Silent SNP G G A TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 901c2ed5-8348-4dd9-a84c-6c0b18d6525e 10c383d7-07ab-4de5-b6e3-e19dd22e0d47 g.chr11:5799295G>A uc010qzn.1 - 1 570 c.570C>T c.(568-570)CAC>CAT p.H190H TRIM5_uc001mbq.1_Intron|TRIM22_uc009yet.1_Intron NM_001001922 NP_001001922 Q8NH56 O52N5_HUMAN olfactory receptor, family 52, subfamily N, 190 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2) 2 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) Epithelial(150;3.05e-11)|LUSC - Lung squamous cell carcinoma(625;0.112)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.195) CTACAGACATGTGGTCGCAGT 0.423 NA 4 65 0 0 0 0 ST5 6764 broad.mit.edu 37 11 8737365 8737365 + Missense_Mutation SNP G G C TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 901c2ed5-8348-4dd9-a84c-6c0b18d6525e 10c383d7-07ab-4de5-b6e3-e19dd22e0d47 g.chr11:8737365G>C uc001mgt.2 - 6 1816 c.1630C>G c.(1630-1632)CTT>GTT p.L544V ST5_uc009yfr.2_Missense_Mutation_p.L124V|ST5_uc001mgu.2_Missense_Mutation_p.L124V|ST5_uc001mgv.2_Missense_Mutation_p.L544V|ST5_uc010rbq.1_RNA|ST5_uc010rbp.1_Missense_Mutation_p.L57V NM_213618 NP_998783 P78524 ST5_HUMAN suppression of tumorigenicity 5 isoform 1 544 positive regulation of ERK1 and ERK2 cascade protein binding upper_aerodigestive_tract(1) 1 Epithelial(150;2.63e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0352) TTCAGGGAAAGCTGGCGTGGG 0.632 NA 18 42 0 0 0 0 IPO7 10527 broad.mit.edu 37 11 9459832 9459832 + Missense_Mutation SNP G G A TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 901c2ed5-8348-4dd9-a84c-6c0b18d6525e 10c383d7-07ab-4de5-b6e3-e19dd22e0d47 g.chr11:9459832G>A uc001mho.2 + 22 2837 c.2695G>A c.(2695-2697)GAG>AAG p.E899K NM_006391 NP_006382 O95373 IPO7_HUMAN importin 7 899 Asp-rich. interspecies interaction between organisms|signal transduction Golgi apparatus|nuclear pore|soluble fraction protein transporter activity|Ran GTPase binding|small GTPase regulator activity lung(1)|breast(1) 2 all cancers(16;8.29e-09)|Epithelial(150;4.76e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0217) tgatgaAACCGGTAAGGGATT 0.234 NA 32 33 0 0 0 0 SLC6A5 9152 broad.mit.edu 37 11 20673889 20673889 + Missense_Mutation SNP C C T rs151244472 byFrequency TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 901c2ed5-8348-4dd9-a84c-6c0b18d6525e 10c383d7-07ab-4de5-b6e3-e19dd22e0d47 g.chr11:20673889C>T uc001mqd.2 + 15 2398 c.2125C>T c.(2125-2127)CGC>TGC p.R709C SLC6A5_uc009yic.2_Missense_Mutation_p.R474C NM_004211 NP_004202 Q9Y345 SC6A5_HUMAN solute carrier family 6 (neurotransmitter 709 synaptic transmission integral to membrane|plasma membrane glycine:sodium symporter activity|neurotransmitter:sodium symporter activity ovary(2)|breast(1)|skin(1) 4 Glycine(DB00145) TGGCTCTTACCGCTATCCTAA 0.488 NA 18 107 0 0 0 0 DCDC1 341019 broad.mit.edu 37 11 31327197 31327197 + Missense_Mutation SNP C C A TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 901c2ed5-8348-4dd9-a84c-6c0b18d6525e 10c383d7-07ab-4de5-b6e3-e19dd22e0d47 g.chr11:31327197C>A uc001msv.2 - 6 921 c.719G>T c.(718-720)GGA>GTA p.G240V DCDC1_uc001msu.1_5'UTR NM_181807 NP_861523 P59894 DCDC1_HUMAN doublecortin domain containing 1 240 Doublecortin. intracellular signal transduction skin(1) 1 Lung SC(675;0.225) AAAGGGCTCTCCCGTTGAAAC 0.413 NA 31 69 6.06e-23 8.21e-23 1 0 OR5W2 390148 broad.mit.edu 37 11 55681277 55681277 + Missense_Mutation SNP C C T TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 901c2ed5-8348-4dd9-a84c-6c0b18d6525e 10c383d7-07ab-4de5-b6e3-e19dd22e0d47 g.chr11:55681277C>T uc010rir.1 - 1 782 c.782G>A c.(781-783)CGG>CAG p.R261Q NM_001001960 NP_001001960 Q8NH69 OR5W2_HUMAN olfactory receptor, family 5, subfamily W, 261 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.R261W(1) ovary(1)|skin(1) 2 AGAACTTGGCCGGAAATACAT 0.443 NA 6 69 0 0 0 0 OR5B3 441608 broad.mit.edu 37 11 58170004 58170004 + Missense_Mutation SNP C C G TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 901c2ed5-8348-4dd9-a84c-6c0b18d6525e 10c383d7-07ab-4de5-b6e3-e19dd22e0d47 g.chr11:58170004C>G uc010rkf.1 - 1 879 c.879G>C c.(877-879)AAG>AAC p.K293N NM_001005469 NP_001005469 Q8NH48 OR5B3_HUMAN olfactory receptor, family 5, subfamily B, 293 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 Esophageal squamous(5;0.0027) Breast(21;0.0778) TCTTCACTTCCTTGTTCCTCA 0.438 NA 6 94 0 0 0 0 TMEM132A 54972 broad.mit.edu 37 11 60699222 60699222 + Missense_Mutation SNP G G T TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 901c2ed5-8348-4dd9-a84c-6c0b18d6525e 10c383d7-07ab-4de5-b6e3-e19dd22e0d47 g.chr11:60699222G>T uc001nqj.2 + 6 1271 c.1078G>T c.(1078-1080)GGC>TGC p.G360C TMEM132A_uc001nqi.2_Missense_Mutation_p.G361C|TMEM132A_uc001nqk.2_Missense_Mutation_p.G373C|TMEM132A_uc001nql.1_Missense_Mutation_p.G373C|TMEM132A_uc001nqm.2_5'Flank NM_178031 NP_821174 Q24JP5 T132A_HUMAN transmembrane protein 132A isoform b 360 Extracellular (Potential). endoplasmic reticulum membrane|Golgi membrane|integral to membrane skin(1) 1 CACTGGTGGGGGCGTAGCGGT 0.567 NA 27 131 1.69e-08 2.02e-08 1 0 AHNAK 79026 broad.mit.edu 37 11 62289123 62289123 + Missense_Mutation SNP T T C TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 901c2ed5-8348-4dd9-a84c-6c0b18d6525e 10c383d7-07ab-4de5-b6e3-e19dd22e0d47 g.chr11:62289123T>C uc001ntl.2 - 5 13066 c.12766A>G c.(12766-12768)AAG>GAG p.K4256E AHNAK_uc001ntk.1_Intron NM_001620 NP_001611 Q09666 AHNK_HUMAN AHNAK nucleoprotein isoform 1 4256 nervous system development nucleus protein binding ovary(10)|pancreas(4)|skin(4)|upper_aerodigestive_tract(1) 19 Melanoma(852;0.155) ATGGAGATCTTGGGGGCTTTG 0.478 NA 61 327 0 0 0 0 IGHMBP2 3508 broad.mit.edu 37 11 68675796 68675796 + Missense_Mutation SNP G G A rs138448914 byFrequency TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 901c2ed5-8348-4dd9-a84c-6c0b18d6525e 10c383d7-07ab-4de5-b6e3-e19dd22e0d47 g.chr11:68675796G>A uc001ook.1 + 3 542 c.440G>A c.(439-441)CGA>CAA p.R147Q IGHMBP2_uc001ooj.1_RNA NM_002180 NP_002171 P38935 SMBP2_HUMAN immunoglobulin mu binding protein 2 147 cell death|DNA recombination|DNA repair|DNA replication|protein homooligomerization|transcription, DNA-dependent|translation axon|growth cone|nucleus|ribonucleoprotein complex ATP binding|ATP-dependent 5'-3' DNA helicase activity|ATP-dependent 5'-3' RNA helicase activity|ribosome binding|single-stranded DNA binding|transcription factor binding|tRNA binding|zinc ion binding 0 STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713) ACTTACAGGCGACTGAAAAAG 0.453 NA 44 57 0 0 0 0 PAAF1 80227 broad.mit.edu 37 11 73620473 73620473 + Missense_Mutation SNP G G A TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 901c2ed5-8348-4dd9-a84c-6c0b18d6525e 10c383d7-07ab-4de5-b6e3-e19dd22e0d47 g.chr11:73620473G>A uc001ouk.1 + 7 596 c.562G>A c.(562-564)GGG>AGG p.G188R PAAF1_uc001oul.1_Missense_Mutation_p.G171R|PAAF1_uc009ytx.1_RNA|PAAF1_uc001oum.1_Missense_Mutation_p.G171R NM_025155 NP_079431 Q9BRP4 PAAF1_HUMAN proteasomal ATPase-associated factor 1 188 WD 3. interspecies interaction between organisms proteasome complex protein binding ovary(1)|skin(1) 2 Breast(11;7.42e-05) CGTTGATCGGGGGAGGAATGT 0.507 NA 12 85 0 0 0 0 MMP13 4322 broad.mit.edu 37 11 102825316 102825316 + Missense_Mutation SNP C C G TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 901c2ed5-8348-4dd9-a84c-6c0b18d6525e 10c383d7-07ab-4de5-b6e3-e19dd22e0d47 g.chr11:102825316C>G uc001phl.2 - 3 410 c.382G>C c.(382-384)GAT>CAT p.D128H NM_002427 NP_002418 P45452 MMP13_HUMAN matrix metalloproteinase 13 preproprotein 128 collagen catabolic process|proteolysis extracellular space metalloendopeptidase activity|zinc ion binding ovary(2)|skin(1) 3 all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967) BRCA - Breast invasive adenocarcinoma(274;0.0144) TGAGTCATATCAGGGGTGTAA 0.348 NA 12 79 0 0 0 0 C11orf52 91894 broad.mit.edu 37 11 111796827 111796827 + Silent SNP G G T TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 901c2ed5-8348-4dd9-a84c-6c0b18d6525e 10c383d7-07ab-4de5-b6e3-e19dd22e0d47 g.chr11:111796827G>T uc001pmh.2 + 5 759 c.276G>T c.(274-276)GTG>GTT p.V92V C11orf52_uc001pmi.2_Silent_p.V92V NM_080659 NP_542390 Q96A22 CK052_HUMAN hypothetical protein LOC91894 92 ovary(1) 1 all_cancers(61;8.8e-15)|all_epithelial(67;6.27e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425) Epithelial(105;3.63e-07)|BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|all cancers(92;6.7e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.0512) CCCGGGAAGTGAAACACGTGC 0.552 NA 7 49 8.13e-05 8.88e-05 1 0 NCAM1 4684 broad.mit.edu 37 11 113105876 113105876 + Silent SNP G G A TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 901c2ed5-8348-4dd9-a84c-6c0b18d6525e 10c383d7-07ab-4de5-b6e3-e19dd22e0d47 g.chr11:113105876G>A uc009yyq.1 + 15 2233 c.1539G>A c.(1537-1539)ACG>ACA p.T513T NM_001076682 NP_001070150 P13591 NCAM1_HUMAN neural cell adhesion molecule 1 isoform 3 605 Extracellular (Potential).|Fibronectin type-III 1. axon guidance|interferon-gamma-mediated signaling pathway anchored to membrane|extracellular region|Golgi membrane|integral to membrane ovary(1) 1 all_cancers(61;5.82e-19)|all_epithelial(67;6.87e-12)|Melanoma(852;1.99e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;0.00119)|Breast(348;0.0109)|all_neural(223;0.0299)|Medulloblastoma(222;0.0458)|Renal(330;0.198)|Prostate(24;0.207) BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.000114)|all cancers(92;0.000467)|OV - Ovarian serous cystadenocarcinoma(223;0.212) AGTTCAAGACGCAGCCAGTCC 0.622 NA 5 17 0 0 0 0 TECTA 7007 broad.mit.edu 37 11 120984288 120984288 + Silent SNP C C T TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 901c2ed5-8348-4dd9-a84c-6c0b18d6525e 10c383d7-07ab-4de5-b6e3-e19dd22e0d47 g.chr11:120984288C>T uc010rzo.1 + 5 651 c.651C>T c.(649-651)ACC>ACT p.T217T NM_005422 NP_005413 O75443 TECTA_HUMAN tectorin alpha precursor 217 NIDO. 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) GAAACCTCACCAATTTCTTCA 0.468 NA 10 53 0 0 0 0 OR8G2 26492 broad.mit.edu 37 11 124096236 124096236 + Missense_Mutation SNP C C A TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 901c2ed5-8348-4dd9-a84c-6c0b18d6525e 10c383d7-07ab-4de5-b6e3-e19dd22e0d47 g.chr11:124096236C>A uc010saf.1 + 1 839 c.839C>A c.(838-840)TCC>TAC p.S280Y NM_001007249 NP_001007250 Q15614 OR8G2_HUMAN olfactory receptor, family 8, subfamily G, 280 integral to membrane olfactory receptor activity 0 Breast(109;0.0157)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22) BRCA - Breast invasive adenocarcinoma(274;4.91e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0528) TCTGTCAGCTCCATGGACCAG 0.478 NA 22 100 1.64e-13 2.12e-13 1 0 ITPR2 3709 broad.mit.edu 37 12 26818845 26818845 + Nonsense_Mutation SNP G G A TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 901c2ed5-8348-4dd9-a84c-6c0b18d6525e 10c383d7-07ab-4de5-b6e3-e19dd22e0d47 g.chr12:26818845G>A uc001rhg.2 - 14 1966 c.1549C>T c.(1549-1551)CAG>TAG p.Q517* NM_002223 NP_002214 Q14571 ITPR2_HUMAN inositol 1,4,5-triphosphate receptor, type 2 517 Cytoplasmic (Potential). activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity kidney(6)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)|lung(1) 14 Colorectal(261;0.0847) AAATTCACCTGTGCCAGTATG 0.303 NA 21 50 0 0 0 0 C12orf40 283461 broad.mit.edu 37 12 40076610 40076610 + Missense_Mutation SNP A A C TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 901c2ed5-8348-4dd9-a84c-6c0b18d6525e 10c383d7-07ab-4de5-b6e3-e19dd22e0d47 g.chr12:40076610A>C uc001rmc.2 + 8 1051 c.884A>C c.(883-885)AAT>ACT p.N295T C12orf40_uc009zjv.1_RNA NM_001031748 NP_001026918 Q86WS4 CL040_HUMAN hypothetical protein LOC283461 295 ovary(6) 6 CTATCAGAGAATTGTGACTCT 0.318 NA 34 81 0 0 0 0 ESPL1 9700 broad.mit.edu 37 12 53676136 53676136 + Missense_Mutation SNP A A T TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 901c2ed5-8348-4dd9-a84c-6c0b18d6525e 10c383d7-07ab-4de5-b6e3-e19dd22e0d47 g.chr12:53676136A>T uc001sck.2 + 14 2799 c.2708A>T c.(2707-2709)CAG>CTG p.Q903L ESPL1_uc001scj.2_Missense_Mutation_p.Q578L|ESPL1_uc010soe.1_Missense_Mutation_p.Q114L NM_012291 NP_036423 Q14674 ESPL1_HUMAN separase 903 apoptosis|cytokinesis|establishment of mitotic spindle localization|mitotic sister chromatid segregation|negative regulation of sister chromatid cohesion|positive regulation of mitotic metaphase/anaphase transition|proteolysis centrosome|nucleus cysteine-type peptidase activity|protein binding lung(1)|kidney(1)|skin(1) 3 CTGCGTGTCCAGGTCCTGCAG 0.577 NA 43 90 0 0 0 0 OR10A7 121364 broad.mit.edu 37 12 55615024 55615024 + Silent SNP T T C TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 901c2ed5-8348-4dd9-a84c-6c0b18d6525e 10c383d7-07ab-4de5-b6e3-e19dd22e0d47 g.chr12:55615024T>C uc010spf.1 + 1 216 c.216T>C c.(214-216)TGT>TGC p.C72C NM_001005280 NP_001005280 Q8NGE5 O10A7_HUMAN olfactory receptor, family 10, subfamily A, 72 Helical; Name=2; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(4) 4 TTGAAGTATGTTTCACCTTGG 0.408 NA 50 171 0 0 0 0 PTPRB 5787 broad.mit.edu 37 12 70954538 70954538 + Missense_Mutation SNP C C T TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 901c2ed5-8348-4dd9-a84c-6c0b18d6525e 10c383d7-07ab-4de5-b6e3-e19dd22e0d47 g.chr12:70954538C>T uc001swb.3 - 15 3721 c.3691G>A c.(3691-3693)GGC>AGC p.G1231S PTPRB_uc010sto.1_Missense_Mutation_p.G1141S|PTPRB_uc010stp.1_Missense_Mutation_p.G1141S|PTPRB_uc001swc.3_Missense_Mutation_p.G1449S|PTPRB_uc001swa.3_Missense_Mutation_p.G1361S|PTPRB_uc001swd.3_Missense_Mutation_p.G1448S|PTPRB_uc009zrr.1_Missense_Mutation_p.G1328S NM_002837 NP_002828 P23467 PTPRB_HUMAN protein tyrosine phosphatase, receptor type, B 1231 Fibronectin type-III 14.|Extracellular (Potential). angiogenesis integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity lung(2)|skin(1) 3 Renal(347;0.236) GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149) GGAACAAGGCCTTGAAACCGC 0.493 NA 15 47 0 0 0 0 LIN7A 8825 broad.mit.edu 37 12 81331469 81331469 + Silent SNP C C A TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 901c2ed5-8348-4dd9-a84c-6c0b18d6525e 10c383d7-07ab-4de5-b6e3-e19dd22e0d47 g.chr12:81331469C>A uc001szj.1 - 1 226 c.33G>T c.(31-33)ACG>ACT p.T11T LIN7A_uc001szk.1_RNA|MIR618_hsa-mir-618|MI0003632_5'Flank NM_004664 NP_004655 O14910 LIN7A_HUMAN lin-7 homolog A 11 exocytosis|protein complex assembly|protein transport basolateral plasma membrane|postsynaptic density|postsynaptic membrane|synaptosome|tight junction L27 domain binding ovary(1)|skin(1) 2 CCATGTCTGCCGTGGGAGCCG 0.498 NA 6 13 0.00198382 0.00207118 1 0 EEA1 8411 broad.mit.edu 37 12 93221688 93221688 + Missense_Mutation SNP C C A TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 901c2ed5-8348-4dd9-a84c-6c0b18d6525e 10c383d7-07ab-4de5-b6e3-e19dd22e0d47 g.chr12:93221688C>A uc001tck.2 - 12 1669 c.1404G>T c.(1402-1404)CAG>CAT p.Q468H NM_003566 NP_003557 Q15075 EEA1_HUMAN early endosome antigen 1, 162kD 468 Gln/Glu/Lys-rich.|Potential. early endosome to late endosome transport|synaptic vesicle to endosome fusion|vesicle fusion cytosol|early endosome membrane|extrinsic to plasma membrane|membrane fraction 1-phosphatidylinositol binding|calmodulin binding|GTP-dependent protein binding|protein homodimerization activity|zinc ion binding ovary(2)|skin(1) 3 GCTAGCTTACCTGCTCTTCTA 0.348 NA 43 129 1.01e-15 1.32e-15 1 0 UHRF1BP1L 23074 broad.mit.edu 37 12 100441774 100441774 + Missense_Mutation SNP C C A TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 901c2ed5-8348-4dd9-a84c-6c0b18d6525e 10c383d7-07ab-4de5-b6e3-e19dd22e0d47 g.chr12:100441774C>A uc001tgq.2 - 18 4148 c.3919G>T c.(3919-3921)GCA>TCA p.A1307S UHRF1BP1L_uc001tgp.2_Missense_Mutation_p.A957S NM_015054 NP_055869 A0JNW5 UH1BL_HUMAN UHRF1 (ICBP90) binding protein 1-like isoform a 1307 ovary(2) 2 ATTACTGTTGCAACAGTTTCA 0.269 NA 11 15 1.59e-06 1.82e-06 1 0 TDG 6996 broad.mit.edu 37 12 104373699 104373699 + Missense_Mutation SNP G G T TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 901c2ed5-8348-4dd9-a84c-6c0b18d6525e 10c383d7-07ab-4de5-b6e3-e19dd22e0d47 g.chr12:104373699G>T uc001tkg.2 + 3 480 c.257G>T c.(256-258)GGC>GTC p.G86V TDG_uc010swh.1_Missense_Mutation_p.G86V|TDG_uc009zuk.2_Missense_Mutation_p.G82V|TDG_uc010swi.1_5'UTR|TDG_uc010swj.1_5'UTR NM_003211 NP_003202 Q13569 TDG_HUMAN thymine-DNA glycosylase 86 depyrimidination|mismatch repair nucleoplasm damaged DNA binding|mismatched DNA binding|protein binding|pyrimidine-specific mismatch base pair DNA N-glycosylase activity ovary(3)|lung(3) 6 BRCA - Breast invasive adenocarcinoma(302;0.00114) AAAAAATCTGGCAAGTCTGCA 0.338 NA BER_DNA_glycosylases 14 79 1.52e-12 1.94e-12 1 0 TCTN1 79600 broad.mit.edu 37 12 111078896 111078896 + Missense_Mutation SNP G G T TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 901c2ed5-8348-4dd9-a84c-6c0b18d6525e 10c383d7-07ab-4de5-b6e3-e19dd22e0d47 g.chr12:111078896G>T uc009zvs.2 + 9 1154 c.1046G>T c.(1045-1047)GGG>GTG p.G349V TCTN1_uc009zvr.1_RNA|TCTN1_uc001trl.2_RNA|TCTN1_uc001trm.2_Missense_Mutation_p.G289V|TCTN1_uc010syc.1_RNA|TCTN1_uc001tro.2_RNA|TCTN1_uc001trp.3_Missense_Mutation_p.G335V|TCTN1_uc001trn.3_Missense_Mutation_p.G349V|TCTN1_uc001trj.1_Missense_Mutation_p.G293V|TCTN1_uc001trk.3_RNA|HVCN1_uc001trq.1_Intron NM_001082537 NP_001076006 Q2MV58 TECT1_HUMAN tectonic family member 1 isoform 2 349 multicellular organismal development extracellular region 0 TTCGTTCTGGGGACAGTTAGC 0.393 NA 47 101 2.53e-16 3.33e-16 1 0 MAP1LC3B2 643246 broad.mit.edu 37 12 117013751 117013751 + Missense_Mutation SNP C C T TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 901c2ed5-8348-4dd9-a84c-6c0b18d6525e 10c383d7-07ab-4de5-b6e3-e19dd22e0d47 g.chr12:117013751C>T uc009zwk.1 + 2 158 c.4C>T c.(4-6)CCG>TCG p.P2S NM_001085481 NP_001078950 A6NCE7 MP3B2_HUMAN microtubule-associated protein 1 light chain 3 2 autophagy autophagic vacuole membrane|cytoplasmic vesicle|endomembrane system|microtubule 0 CCACACCATGCCGTCGGAGAA 0.617 NA 33 29 0 0 0 0 PDX1 3651 broad.mit.edu 37 13 28498541 28498541 + Missense_Mutation SNP G G C TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 901c2ed5-8348-4dd9-a84c-6c0b18d6525e 10c383d7-07ab-4de5-b6e3-e19dd22e0d47 g.chr13:28498541G>C uc001urt.2 + 2 663 c.555G>C c.(553-555)TTG>TTC p.L185F uc001urs.1_5'Flank NM_000209 NP_000200 P52945 PDX1_HUMAN pancreatic and duodenal homeobox 1 185 Homeobox. detection of glucose|generation of precursor metabolites and energy|insulin secretion|nitric oxide mediated signal transduction|organ morphogenesis|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter|type B pancreatic cell differentiation nucleus sequence-specific DNA binding transcription factor activity 0 all_cancers(110;0.175)|all_hematologic(3;0.0447)|Acute lymphoblastic leukemia(6;0.155) Lung SC(185;0.0156) Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105) GBM - Glioblastoma multiforme(144;0.0402)|all cancers(112;0.0404)|OV - Ovarian serous cystadenocarcinoma(117;0.197) TGTTGAACTTGACCGAGAGAC 0.587 NA 5 71 0 0 0 0 LHFP 10186 broad.mit.edu 37 13 39952615 39952615 + Missense_Mutation SNP C C T rs142526688 by1000genomes TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 901c2ed5-8348-4dd9-a84c-6c0b18d6525e 10c383d7-07ab-4de5-b6e3-e19dd22e0d47 g.chr13:39952615C>T uc001uxf.2 - 3 945 c.434G>A c.(433-435)AGT>AAT p.S145N NM_005780 NP_005771 Q9Y693 LHFP_HUMAN lipoma HMGIC fusion partner precursor 145 integral to membrane DNA binding HMGA2/LHFP(2) soft_tissue(2)|lung(1)|breast(1) 4 Lung NSC(96;3.55e-06)|Breast(139;0.00408)|Ovarian(182;0.0107)|Prostate(109;0.0118)|Lung SC(185;0.0719)|Hepatocellular(188;0.114) OV - Ovarian serous cystadenocarcinoma(117;6.48e-46)|Epithelial(112;8.43e-42)|all cancers(112;1.42e-36)|GBM - Glioblastoma multiforme(144;0.00187)|BRCA - Breast invasive adenocarcinoma(63;0.00886)|KIRC - Kidney renal clear cell carcinoma(186;0.048)|Kidney(163;0.0601)|LUSC - Lung squamous cell carcinoma(192;0.105) GACTTCCTCACTGTCCCAGCC 0.502 NA T HMGA2 lipoma 10 47 0 0 0 0 FAM155A 728215 broad.mit.edu 37 13 108518775 108518775 + Missense_Mutation SNP C C A TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 901c2ed5-8348-4dd9-a84c-6c0b18d6525e 10c383d7-07ab-4de5-b6e3-e19dd22e0d47 g.chr13:108518775C>A uc001vql.2 - 1 686 c.170G>T c.(169-171)TGG>TTG p.W57L NM_001080396 NP_001073865 B1AL88 F155A_HUMAN family with sequence similarity 155, member A 57 Helical; (Potential). integral to membrane binding skin(1) 1 GGCGCAGAACCACAAGTGATC 0.398 NA 75 74 1.23e-19 1.65e-19 1 0 COL4A1 1282 broad.mit.edu 37 13 110833680 110833680 + Missense_Mutation SNP A A G TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 901c2ed5-8348-4dd9-a84c-6c0b18d6525e 10c383d7-07ab-4de5-b6e3-e19dd22e0d47 g.chr13:110833680A>G uc001vqw.3 - 29 2274 c.2152T>C c.(2152-2154)TTT>CTT p.F718L COL4A1_uc010agl.2_Intron NM_001845 NP_001836 P02462 CO4A1_HUMAN alpha 1 type IV collagen preproprotein 718 Triple-helical region. angiogenesis|axon guidance extracellular matrix structural constituent|platelet-derived growth factor binding ovary(3)|lung(1)|central_nervous_system(1)|pancreas(1) 6 all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604) Breast(118;0.2) BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145) AAGCCATTAAATCCCGGGCGA 0.502 NA 7 45 0 0 0 0 OR4N2 390429 broad.mit.edu 37 14 20296501 20296501 + Missense_Mutation SNP G G T TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 901c2ed5-8348-4dd9-a84c-6c0b18d6525e 10c383d7-07ab-4de5-b6e3-e19dd22e0d47 g.chr14:20296501G>T uc010tkv.1 + 1 894 c.894G>T c.(892-894)ATG>ATT p.M298I NM_001004723 NP_001004723 Q8NGD1 OR4N2_HUMAN olfactory receptor, family 4, subfamily N, 298 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|central_nervous_system(1)|skin(1) 4 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00327) AAGCTTCCATGAAAAAGGTGT 0.353 NA 14 28 1.58e-08 1.9e-08 1 0 LRFN5 145581 broad.mit.edu 37 14 42361015 42361015 + Missense_Mutation SNP A A G TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 901c2ed5-8348-4dd9-a84c-6c0b18d6525e 10c383d7-07ab-4de5-b6e3-e19dd22e0d47 g.chr14:42361015A>G uc001wvm.2 + 4 3146 c.1948A>G c.(1948-1950)AAG>GAG p.K650E LRFN5_uc010ana.2_Intron NM_152447 NP_689660 Q96NI6 LRFN5_HUMAN leucine rich repeat and fibronectin type III 650 Cytoplasmic (Potential). integral to membrane ovary(5)|pancreas(2)|central_nervous_system(1) 8 LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728) GBM - Glioblastoma multiforme(112;0.00847) GACTGGCACAAAGCCAAGTAC 0.478 NA HNSCC(30;0.082) 12 26 0 0 0 0 DACT1 51339 broad.mit.edu 37 14 59112625 59112625 + Silent SNP C C A TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 901c2ed5-8348-4dd9-a84c-6c0b18d6525e 10c383d7-07ab-4de5-b6e3-e19dd22e0d47 g.chr14:59112625C>A uc001xdw.2 + 4 1448 c.1284C>A c.(1282-1284)GCC>GCA p.A428A DACT1_uc010trv.1_Silent_p.A147A|DACT1_uc001xdx.2_Silent_p.A391A|DACT1_uc010trw.1_Silent_p.A147A NM_016651 NP_057735 Q9NYF0 DACT1_HUMAN dapper 1 isoform 1 428 multicellular organismal development|Wnt receptor signaling pathway cytoplasm|nucleus large_intestine(2)|lung(2)|ovary(1) 5 CCGAACAAGCCGAAAGCAAGA 0.597 NA 7 46 5.18e-06 5.84e-06 1 0 JDP2 122953 broad.mit.edu 37 14 75936093 75936093 + Missense_Mutation SNP G G A TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 901c2ed5-8348-4dd9-a84c-6c0b18d6525e 10c383d7-07ab-4de5-b6e3-e19dd22e0d47 g.chr14:75936093G>A uc010asj.2 + 4 474 c.407G>A c.(406-408)CGC>CAC p.R136H JDP2_uc010tvb.1_Missense_Mutation_p.R136H|JDP2_uc010tvc.1_Missense_Mutation_p.R136H|JDP2_uc001xrq.2_Missense_Mutation_p.R147H NM_001135047 NP_001128519 Q8WYK2 JDP2_HUMAN Jun dimerization protein 2 isoform a 136 nucleus sequence-specific DNA binding 0 BRCA - Breast invasive adenocarcinoma(234;0.0296) AACCGACACCGCCCCACCTGC 0.587 NA 17 40 0 0 0 0 KIAA1409 57578 broad.mit.edu 37 14 94088414 94088414 + Nonsense_Mutation SNP C C G TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 901c2ed5-8348-4dd9-a84c-6c0b18d6525e 10c383d7-07ab-4de5-b6e3-e19dd22e0d47 g.chr14:94088414C>G uc001ybv.1 + 28 4453 c.4370C>G c.(4369-4371)TCA>TGA p.S1457* KIAA1409_uc001ybs.1_Nonsense_Mutation_p.S1435* NM_020818 NP_065869 Q9P2D8 UNC79_HUMAN hypothetical protein LOC57578 1612 integral to membrane ovary(10)|skin(4)|large_intestine(3) 17 all_cancers(154;0.0354)|all_epithelial(191;0.216) Epithelial(152;0.188) GATCTATCCTCAGATTCAACC 0.468 NA 36 97 0 0 0 0 C14orf49 161176 broad.mit.edu 37 14 95922000 95922000 + Missense_Mutation SNP G G T rs143391386 TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 901c2ed5-8348-4dd9-a84c-6c0b18d6525e 10c383d7-07ab-4de5-b6e3-e19dd22e0d47 g.chr14:95922000G>T uc001yei.3 - 5 866 c.851C>A c.(850-852)GCG>GAG p.A284E C14orf49_uc010avi.2_Missense_Mutation_p.A284E|C14orf49_uc001yej.1_Missense_Mutation_p.A284E NM_152592 NP_689805 Q6ZMZ3 SYNE3_HUMAN nesprin-3 284 Spectrin 1.|Cytoplasmic (Potential). cytoskeletal anchoring at nuclear membrane integral to membrane|nuclear outer membrane|SUN-KASH complex actin binding central_nervous_system(1) 1 all_cancers(154;0.0937) COAD - Colon adenocarcinoma(157;0.245) AATGACACCCGCAGACTGCTC 0.567 NA 20 181 3.88e-16 5.08e-16 1 0 SNRPN 6638 broad.mit.edu 37 15 25221556 25221556 + Missense_Mutation SNP C C T TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 901c2ed5-8348-4dd9-a84c-6c0b18d6525e 10c383d7-07ab-4de5-b6e3-e19dd22e0d47 g.chr15:25221556C>T uc001ywp.1 + 9 1150 c.260C>T c.(259-261)CCC>CTC p.P87L SNRPN_uc001ywq.1_Missense_Mutation_p.P87L|SNRPN_uc001ywr.1_Missense_Mutation_p.P87L|SNRPN_uc001yws.1_Missense_Mutation_p.P87L|SNRPN_uc001ywt.1_Missense_Mutation_p.P87L|SNRPN_uc001ywv.1_Missense_Mutation_p.P90L|SNRPN_uc001yww.1_Missense_Mutation_p.P87L|SNRPN_uc001ywx.1_Missense_Mutation_p.P87L|SNRPN_uc001ywz.1_Intron|PAR-SN_uc001yxa.1_Intron|SNRPN_uc001ywy.1_3'UTR NM_022807 NP_073718 P63162 RSMN_HUMAN small nuclear ribonucleoprotein polypeptide N 87 RNA splicing small nuclear ribonucleoprotein complex|spliceosomal complex identical protein binding|RNA binding ovary(1) 1 all_cancers(20;9.33e-22)|Breast(32;0.000625) all cancers(64;3.38e-08)|Epithelial(43;3.45e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000207)|GBM - Glioblastoma multiforme(186;0.125) GGGCCACCCCCCAAAGATGTA 0.488 NA Prader-Willi_syndrome 12 51 0 0 0 0 WDR72 256764 broad.mit.edu 37 15 54003099 54003099 + Silent SNP G G T TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 901c2ed5-8348-4dd9-a84c-6c0b18d6525e 10c383d7-07ab-4de5-b6e3-e19dd22e0d47 g.chr15:54003099G>T uc002acj.2 - 9 951 c.909C>A c.(907-909)ACC>ACA p.T303T WDR72_uc010bfi.1_Silent_p.T303T NM_182758 NP_877435 Q3MJ13 WDR72_HUMAN WD repeat domain 72 303 lung(1)|skin(1) 2 all cancers(107;0.0511) GAGGATAAATGGTCTCTTTAA 0.383 NA 9 49 3.07e-06 3.48e-06 1 0 CILP 8483 broad.mit.edu 37 15 65490300 65490300 + Missense_Mutation SNP A A G TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 901c2ed5-8348-4dd9-a84c-6c0b18d6525e 10c383d7-07ab-4de5-b6e3-e19dd22e0d47 g.chr15:65490300A>G uc002aon.2 - 9 2505 c.2324T>C c.(2323-2325)ATC>ACC p.I775T NM_003613 NP_003604 O75339 CILP1_HUMAN cartilage intermediate layer protein 775 negative regulation of insulin-like growth factor receptor signaling pathway extracellular matrix part|extracellular space|proteinaceous extracellular matrix ovary(4)|pancreas(2)|skin(1) 7 AATCACGGAGATCACAACCCC 0.562 NA 54 87 0 0 0 0 DENND4A 10260 broad.mit.edu 37 15 65959832 65959832 + Silent SNP T T C TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 901c2ed5-8348-4dd9-a84c-6c0b18d6525e 10c383d7-07ab-4de5-b6e3-e19dd22e0d47 g.chr15:65959832T>C uc002aph.2 - 28 5442 c.5064A>G c.(5062-5064)TTA>TTG p.L1688L DENND4A_uc002api.2_Silent_p.L1731L NM_005848 NP_005839 Q7Z401 MYCPP_HUMAN DENN/MADD domain containing 4A isoform 2 1688 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding ovary(2)|haematopoietic_and_lymphoid_tissue(1)|skin(1) 4 TCAATCCAGGTAAGTTACTGG 0.368 NA 9 47 0 0 0 0 ADAMTSL3 57188 broad.mit.edu 37 15 84581990 84581990 + Missense_Mutation SNP C C A TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 901c2ed5-8348-4dd9-a84c-6c0b18d6525e 10c383d7-07ab-4de5-b6e3-e19dd22e0d47 g.chr15:84581990C>A uc002bjz.3 + 16 2071 c.1847C>A c.(1846-1848)ACC>AAC p.T616N ADAMTSL3_uc010bmt.1_Missense_Mutation_p.T616N|ADAMTSL3_uc010bmu.1_Missense_Mutation_p.T616N NM_207517 NP_997400 P82987 ATL3_HUMAN ADAMTS-like 3 precursor 616 TSP type-1 4. proteinaceous extracellular matrix metallopeptidase activity|zinc ion binding ovary(6)|central_nervous_system(5)|lung(5)|large_intestine(4)|breast(3)|skin(2)|kidney(1)|pancreas(1) 27 BRCA - Breast invasive adenocarcinoma(143;0.211) AAGCTGCCCACCGAACGGCCC 0.617 NA 10 38 7.48e-07 8.64e-07 1 0 ACAN 176 broad.mit.edu 37 15 89398229 89398229 + Missense_Mutation SNP C C A TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 901c2ed5-8348-4dd9-a84c-6c0b18d6525e 10c383d7-07ab-4de5-b6e3-e19dd22e0d47 g.chr15:89398229C>A uc010upo.1 + 12 2787 c.2413C>A c.(2413-2415)CCA>ACA p.P805T ACAN_uc010upp.1_Missense_Mutation_p.P805T|ACAN_uc002bna.2_RNA NM_013227 NP_037359 E7EX88 E7EX88_HUMAN aggrecan isoform 2 precursor 805 cell adhesion hyaluronic acid binding|sugar binding ovary(2)|central_nervous_system(1) 3 Lung NSC(78;0.0392)|all_lung(78;0.077) BRCA - Breast invasive adenocarcinoma(143;0.146) CTCAGAGGAACCATTCCCCTC 0.602 NA 7 8 0.000157383 0.000170249 1 0 CRTC3 64784 broad.mit.edu 37 15 91083350 91083350 + Missense_Mutation SNP G G A TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 901c2ed5-8348-4dd9-a84c-6c0b18d6525e 10c383d7-07ab-4de5-b6e3-e19dd22e0d47 g.chr15:91083350G>A uc002bpp.2 + 2 318 c.212G>A c.(211-213)AGC>AAC p.S71N CRTC3_uc002bpn.2_Missense_Mutation_p.S71N|CRTC3_uc002bpo.2_Missense_Mutation_p.S71N NM_022769 NP_073606 Q6UUV7 CRTC3_HUMAN transducer of regulated CREB protein 3 isoform 71 Required for interaction with HTLV-1 TAX. interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus CRTC3/MAML2(26) salivary_gland(26)|ovary(1) 27 Melanoma(11;0.00551)|Lung NSC(78;0.0931)|all_lung(78;0.163) BRCA - Breast invasive adenocarcinoma(143;0.0745) CAGCTGCGGAGCAGTGCGTCA 0.413 NA T MAML2 salivary gland mucoepidermoid 29 40 0 0 0 0 WDR90 197335 broad.mit.edu 37 16 701826 701826 + Splice_Site SNP G G T TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 901c2ed5-8348-4dd9-a84c-6c0b18d6525e 10c383d7-07ab-4de5-b6e3-e19dd22e0d47 g.chr16:701826G>T uc002cii.1 + 9 895 c.841_splice c.e9-1 p.S281_splice WDR90_uc002cig.1_Splice_Site_p.S281_splice|WDR90_uc002cih.1_Missense_Mutation_p.Q281H|WDR90_uc002cij.1_Splice_Site NM_145294 NP_660337 Q96KV7 WDR90_HUMAN WD repeat domain 90 ovary(1) 1 Hepatocellular(780;0.0218) TCCCCCAGCAGTCCGGCCGGG 0.687 NA 20 49 7.42e-09 8.96e-09 1 0 C16orf42 115939 broad.mit.edu 37 16 1400139 1400139 + Missense_Mutation SNP C C A TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 901c2ed5-8348-4dd9-a84c-6c0b18d6525e 10c383d7-07ab-4de5-b6e3-e19dd22e0d47 g.chr16:1400139C>A uc002cll.2 - 4 691 c.623G>T c.(622-624)TGC>TTC p.C208F GNPTG_uc002clm.2_5'Flank NM_001001410 NP_001001410 Q9UJK0 TSR3_HUMAN hypothetical protein LOC115939 208 rRNA processing 0 Hepatocellular(780;0.0893) CGGGCTGCCGCAGGCCGCGTA 0.622 NA 17 18 1.57e-10 1.97e-10 1 0 NLRC3 197358 broad.mit.edu 37 16 3602217 3602217 + Missense_Mutation SNP T T C TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 901c2ed5-8348-4dd9-a84c-6c0b18d6525e 10c383d7-07ab-4de5-b6e3-e19dd22e0d47 g.chr16:3602217T>C uc010btn.2 - 11 2741 c.2330A>G c.(2329-2331)AAC>AGC p.N777S NLRC3_uc010bto.1_Missense_Mutation_p.N42S NM_178844 NP_849172 Q7RTR2 NLRC3_HUMAN NOD3 protein 777 LRR 7. I-kappaB kinase/NF-kappaB cascade|negative regulation of NF-kappaB transcription factor activity|T cell activation cytoplasm ATP binding ovary(2)|pancreas(2)|central_nervous_system(1)|skin(1) 6 CAGACTCCTGTTCTGCTTCAA 0.388 NA 35 46 0 0 0 0 SBK1 388228 broad.mit.edu 37 16 28331653 28331653 + Missense_Mutation SNP C C T TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 901c2ed5-8348-4dd9-a84c-6c0b18d6525e 10c383d7-07ab-4de5-b6e3-e19dd22e0d47 g.chr16:28331653C>T uc002dpd.2 + 4 1475 c.686C>T c.(685-687)GCG>GTG p.A229V NM_001024401 NP_001019572 Q52WX2 SBK1_HUMAN SH3-binding kinase 1 229 Protein kinase. cytoplasm ATP binding|protein serine/threonine kinase activity ovary(1)|kidney(1) 2 GACGGGCTGGCGGTGGACACG 0.736 NA 8 19 0 0 0 0 MYH4 4622 broad.mit.edu 37 17 10362566 10362566 + Splice_Site SNP A A T TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 901c2ed5-8348-4dd9-a84c-6c0b18d6525e 10c383d7-07ab-4de5-b6e3-e19dd22e0d47 g.chr17:10362566A>T uc002gmn.2 - 15 1698 c.1587_splice c.e15+1 p.K529_splice uc002gml.1_Intron NM_017533 NP_060003 Q9Y623 MYH4_HUMAN myosin, heavy polypeptide 4, skeletal muscle muscle filament sliding muscle myosin complex|myosin filament|sarcomere actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle ovary(10)|skin(2)|central_nervous_system(1) 13 AGTCATATGAACCTTCTCGAT 0.473 NA 15 51 0 0 0 0 MYOCD 93649 broad.mit.edu 37 17 12661501 12661501 + Missense_Mutation SNP C C T TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 901c2ed5-8348-4dd9-a84c-6c0b18d6525e 10c383d7-07ab-4de5-b6e3-e19dd22e0d47 g.chr17:12661501C>T uc002gnn.2 + 11 2457 c.2158C>T c.(2158-2160)CCT>TCT p.P720S MYOCD_uc002gno.2_Missense_Mutation_p.P768S|MYOCD_uc002gnp.1_Missense_Mutation_p.P672S|MYOCD_uc002gnq.2_Intron NM_153604 NP_705832 Q8IZQ8 MYCD_HUMAN myocardin isoform 2 720 cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation nucleus nucleic acid binding|RNA polymerase II transcription factor binding transcription factor activity|transcription factor binding central_nervous_system(2)|skin(2)|ovary(1) 5 UCEC - Uterine corpus endometrioid carcinoma (92;0.0969) GGTAACACAGCCTCCATCCTA 0.393 NA 11 49 0 0 0 0 AMAC1 146861 broad.mit.edu 37 17 33521053 33521053 + Missense_Mutation SNP C C A TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 901c2ed5-8348-4dd9-a84c-6c0b18d6525e 10c383d7-07ab-4de5-b6e3-e19dd22e0d47 g.chr17:33521053C>A uc002hjd.2 - 1 360 c.274G>T c.(274-276)GAC>TAC p.D92Y NM_152462 NP_689675 Q8N808 AMAC1_HUMAN acyl-malonyl condensing enzyme 1 92 DUF6 1. integral to membrane 0 BRCA - Breast invasive adenocarcinoma(366;0.0917) AGAAGGGGGTCGCCACGCAGT 0.582 NA 88 120 9.25e-40 1.28e-39 1 0 KRT34 3885 broad.mit.edu 37 17 39538432 39538432 + Missense_Mutation SNP G G T TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 901c2ed5-8348-4dd9-a84c-6c0b18d6525e 10c383d7-07ab-4de5-b6e3-e19dd22e0d47 g.chr17:39538432G>T uc002hwm.2 - 1 205 c.193C>A c.(193-195)CCC>ACC p.P65T NM_021013 NP_066293 O76011 KRT34_HUMAN keratin 34 65 Head. epidermis development intermediate filament protein binding|structural molecule activity central_nervous_system(1) 1 Breast(137;0.000496) CAGCTGGGGGGCACGCAGGGC 0.622 NA 19 72 1.02e-10 1.28e-10 1 0 DHX8 1659 broad.mit.edu 37 17 41570954 41570954 + Missense_Mutation SNP G G A TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 901c2ed5-8348-4dd9-a84c-6c0b18d6525e 10c383d7-07ab-4de5-b6e3-e19dd22e0d47 g.chr17:41570954G>A uc002idu.1 + 7 1078 c.1005G>A c.(1003-1005)ATG>ATA p.M335I DHX8_uc010wif.1_Missense_Mutation_p.M244I|DHX8_uc010wig.1_Missense_Mutation_p.M335I NM_004941 NP_004932 Q14562 DHX8_HUMAN DEAH (Asp-Glu-Ala-His) box polypeptide 8 335 S1 motif. catalytic step 2 spliceosome ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding ovary(2)|kidney(1)|pancreas(1) 4 Breast(137;0.00908) BRCA - Breast invasive adenocarcinoma(366;0.08) GCCTGAGCATGAAGGTAGGTG 0.527 NA 15 70 0 0 0 0 KIF2B 84643 broad.mit.edu 37 17 51900732 51900732 + Missense_Mutation SNP C C T TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 901c2ed5-8348-4dd9-a84c-6c0b18d6525e 10c383d7-07ab-4de5-b6e3-e19dd22e0d47 g.chr17:51900732C>T uc002iua.2 + 1 494 c.338C>T c.(337-339)ACG>ATG p.T113M uc010wna.1_RNA NM_032559 NP_115948 Q8N4N8 KIF2B_HUMAN kinesin family member 2B 113 blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle ATP binding|microtubule motor activity ovary(5)|skin(3) 8 CGTACCGCCACGAAATGGGTT 0.592 NA 19 92 0 0 0 0 STXBP4 252983 broad.mit.edu 37 17 53158524 53158524 + Missense_Mutation SNP G G A rs35447433 byFrequency TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 901c2ed5-8348-4dd9-a84c-6c0b18d6525e 10c383d7-07ab-4de5-b6e3-e19dd22e0d47 g.chr17:53158524G>A uc002iuf.1 + 16 1676 c.1469G>A c.(1468-1470)CGT>CAT p.R490H STXBP4_uc010dcd.1_Missense_Mutation_p.R468H NM_178509 NP_848604 Q6ZWJ1 STXB4_HUMAN syntaxin binding protein 4 490 cytoplasm calcium ion binding ovary(1) 1 AAATCTGTTCGTGCCTTACTT 0.378 NA 7 14 0 0 0 0 BRIP1 83990 broad.mit.edu 37 17 59763502 59763502 + Missense_Mutation SNP T T A TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 901c2ed5-8348-4dd9-a84c-6c0b18d6525e 10c383d7-07ab-4de5-b6e3-e19dd22e0d47 g.chr17:59763502T>A uc002izk.1 - 19 2741 c.2600A>T c.(2599-2601)CAG>CTG p.Q867L BRIP1_uc002izl.1_Missense_Mutation_p.Q248L NM_032043 NP_114432 Q9BX63 FANCJ_HUMAN BRCA1 interacting protein C-terminal helicase 1 867 DNA damage checkpoint|double-strand break repair|regulation of transcription from RNA polymerase II promoter cytoplasm|nucleus ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding ovary(1) 1 GTGCTGAATCTGCTGCCGTAC 0.358 NA F|N|Mis AML|leukemia|breast Direct_reversal_of_damage|Involved_in_tolerance_or_repair_of_DNA_crosslinks Fanconi_Anemia 9 83 0 0 0 0 BRIP1 83990 broad.mit.edu 37 17 59763514 59763514 + Missense_Mutation SNP C C A TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 901c2ed5-8348-4dd9-a84c-6c0b18d6525e 10c383d7-07ab-4de5-b6e3-e19dd22e0d47 g.chr17:59763514C>A uc002izk.1 - 19 2729 c.2588G>T c.(2587-2589)TGG>TTG p.W863L BRIP1_uc002izl.1_Missense_Mutation_p.W244L NM_032043 NP_114432 Q9BX63 FANCJ_HUMAN BRCA1 interacting protein C-terminal helicase 1 863 DNA damage checkpoint|double-strand break repair|regulation of transcription from RNA polymerase II promoter cytoplasm|nucleus ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding ovary(1) 1 CTGCCGTACCCATTTAGAAAG 0.348 NA F|N|Mis AML|leukemia|breast Direct_reversal_of_damage|Involved_in_tolerance_or_repair_of_DNA_crosslinks Fanconi_Anemia 6 80 3.86e-05 4.25e-05 1 0 CCDC46 201134 broad.mit.edu 37 17 64062993 64062993 + Silent SNP A A G TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 901c2ed5-8348-4dd9-a84c-6c0b18d6525e 10c383d7-07ab-4de5-b6e3-e19dd22e0d47 g.chr17:64062993A>G uc002jfl.2 - 10 1077 c.858T>C c.(856-858)ATT>ATC p.I286I CCDC46_uc010deo.2_Silent_p.I28I|CCDC46_uc002jfm.2_Silent_p.I286I|CCDC46_uc010dep.2_Silent_p.I244I NM_145036 NP_659473 Q8N8E3 CE112_HUMAN coiled-coil domain containing 46 isoform a 286 Potential. centrosome 0 BRCA - Breast invasive adenocarcinoma(6;1.53e-06) TTCTTTCTAAAATCTGCAAAT 0.244 NA 7 13 0 0 0 0 CACNG5 27091 broad.mit.edu 37 17 64881204 64881204 + Silent SNP C C T TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 901c2ed5-8348-4dd9-a84c-6c0b18d6525e 10c383d7-07ab-4de5-b6e3-e19dd22e0d47 g.chr17:64881204C>T uc010wqi.1 + 6 912 c.675C>T c.(673-675)TCC>TCT p.S225S CACNG5_uc010wqj.1_Silent_p.S225S NM_145811 NP_665810 Q9UF02 CCG5_HUMAN voltage-dependent calcium channel gamma-5 225 SAGVMSVYLFMKRYTAEDMYRPHPGFYRPRLSNCSDYSGQF LHPDAWVRGRSPSDISSEASLQMNSNYPALLKCPDYDQMSS SPC -> VKPVTLSMDRLGLGTAPLSRGEWGWGRRDIPQPF WTPDHPLYFPSSSQNVSLSYLSGSPPARMSPGPCSCPHVHF PPHSSCVLCRPQPREMRQAPAASPSSAVFSL (in Ref. 1; AAF03089). regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|postsynaptic density|postsynaptic membrane voltage-gated calcium channel activity pancreas(1)|skin(1) 2 BRCA - Breast invasive adenocarcinoma(6;1.61e-08) GCAACTGCTCCGATTACTCAG 0.622 NA 13 35 0 0 0 0 ACTG1 71 broad.mit.edu 37 17 79478246 79478246 + Missense_Mutation SNP C C T TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 901c2ed5-8348-4dd9-a84c-6c0b18d6525e 10c383d7-07ab-4de5-b6e3-e19dd22e0d47 g.chr17:79478246C>T uc002kaj.1 - 3 795 c.770G>A c.(769-771)TGT>TAT p.C257Y ACTG1_uc002kah.1_Missense_Mutation_p.C135Y|ACTG1_uc002kai.1_Missense_Mutation_p.C214Y|ACTG1_uc002kak.1_Missense_Mutation_p.C257Y|ACTG1_uc010wun.1_Missense_Mutation_p.C257Y|ACTG1_uc002kal.1_Missense_Mutation_p.C257Y|ACTG1_uc002kag.2_RNA NM_001614 NP_001605 P63261 ACTG_HUMAN actin, gamma 1 propeptide 257 adherens junction organization|axon guidance|blood coagulation|cell junction assembly|cellular component movement cytoskeleton|cytosol ATP binding|identical protein binding ovary(1)|central_nervous_system(1) 2 all_neural(118;0.0878)|Melanoma(429;0.242) BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0547) CGCCTCCGGACACCGGAACCG 0.577 NA 18 108 0 0 0 0 PCYT2 5833 broad.mit.edu 37 17 79865452 79865452 + Missense_Mutation SNP T T C TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 901c2ed5-8348-4dd9-a84c-6c0b18d6525e 10c383d7-07ab-4de5-b6e3-e19dd22e0d47 g.chr17:79865452T>C uc002kcf.1 - 6 578 c.515A>G c.(514-516)GAG>GGG p.E172G PCYT2_uc010wva.1_Missense_Mutation_p.E140G|PCYT2_uc010wvb.1_Missense_Mutation_p.E140G|PCYT2_uc002kce.1_Missense_Mutation_p.E94G|PCYT2_uc002kcg.1_Missense_Mutation_p.E183G|PCYT2_uc002kch.1_Missense_Mutation_p.E172G|PCYT2_uc002kci.1_Missense_Mutation_p.E113G|PCYT2_uc010dii.1_Missense_Mutation_p.E172G|PCYT2_uc010wvc.1_Missense_Mutation_p.E94G NM_002861 NP_002852 Q99447 PCY2_HUMAN phosphate cytidylyltransferase 2, ethanolamine 172 Catalytic 1 (Potential). phospholipid biosynthetic process ethanolamine-phosphate cytidylyltransferase activity 0 all_neural(118;0.0878)|Ovarian(332;0.12) BRCA - Breast invasive adenocarcinoma(99;0.013)|OV - Ovarian serous cystadenocarcinoma(97;0.0382) GTCTGCATACTCCCGGTACTC 0.667 NA 3 9 0 0 0 0 MYOM1 8736 broad.mit.edu 37 18 3116435 3116435 + Missense_Mutation SNP C C T TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 901c2ed5-8348-4dd9-a84c-6c0b18d6525e 10c383d7-07ab-4de5-b6e3-e19dd22e0d47 g.chr18:3116435C>T uc002klp.2 - 21 3531 c.3197G>A c.(3196-3198)GGG>GAG p.G1066E MYOM1_uc002klq.2_Missense_Mutation_p.G970E NM_003803 NP_003794 P52179 MYOM1_HUMAN myomesin 1 isoform a 1066 Fibronectin type-III 5. striated muscle myosin thick filament structural constituent of muscle ovary(3)|central_nervous_system(1)|pancreas(1) 5 CGGAGTCCGCCCGGAGTGGAC 0.547 NA 22 23 0 0 0 0 L3MBTL4 91133 broad.mit.edu 37 18 5956275 5956275 + Missense_Mutation SNP G G A TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 901c2ed5-8348-4dd9-a84c-6c0b18d6525e 10c383d7-07ab-4de5-b6e3-e19dd22e0d47 g.chr18:5956275G>A uc002kmz.3 - 20 1976 c.1816C>T c.(1816-1818)CAT>TAT p.H606Y L3MBTL4_uc010dkt.2_Missense_Mutation_p.H606Y|L3MBTL4_uc002kmy.3_Missense_Mutation_p.H435Y NM_173464 NP_775735 Q8NA19 LMBL4_HUMAN l(3)mbt-like 4 606 SAM. chromatin modification nucleus sequence-specific DNA binding transcription factor activity|zinc ion binding skin(2)|pancreas(1) 3 Colorectal(10;0.0249) TCCTGGGAATGCCTGAACATC 0.498 NA 48 184 0 0 0 0 FAM59A 64762 broad.mit.edu 37 18 29867752 29867752 + Missense_Mutation SNP G G A TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 901c2ed5-8348-4dd9-a84c-6c0b18d6525e 10c383d7-07ab-4de5-b6e3-e19dd22e0d47 g.chr18:29867752G>A uc002kxl.2 - 4 864 c.808C>T c.(808-810)CGC>TGC p.R270C FAM59A_uc002kxk.1_Missense_Mutation_p.R270C NM_022751 NP_073588 Q9H706 FA59A_HUMAN family with sequence similarity 59, member A 270 CABIT. ovary(1)|skin(1) 2 AACTTATAGCGGTGCCCCTCA 0.527 NA 16 67 0 0 0 0 ASXL3 80816 broad.mit.edu 37 18 31323155 31323155 + Missense_Mutation SNP C C G TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 901c2ed5-8348-4dd9-a84c-6c0b18d6525e 10c383d7-07ab-4de5-b6e3-e19dd22e0d47 g.chr18:31323155C>G uc010dmg.1 + 12 3398 c.3343C>G c.(3343-3345)CAA>GAA p.Q1115E ASXL3_uc002kxq.2_Missense_Mutation_p.Q822E NM_030632 NP_085135 Q9C0F0 ASXL3_HUMAN additional sex combs like 3 1115 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding ovary(2)|pancreas(1) 3 TGCAAAGCATCAAGCTCGAGC 0.527 NA 4 23 0 0 0 0 TCEB3B 51224 broad.mit.edu 37 18 44559422 44559422 + Silent SNP C C T TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 901c2ed5-8348-4dd9-a84c-6c0b18d6525e 10c383d7-07ab-4de5-b6e3-e19dd22e0d47 g.chr18:44559422C>T uc002lcr.1 - 1 2567 c.2214G>A c.(2212-2214)CTG>CTA p.L738L KATNAL2_uc010dnq.1_Intron|KATNAL2_uc002lco.2_Intron|KATNAL2_uc002lcp.3_Intron|TCEB3C_uc010xdb.1_5'Flank NM_016427 NP_057511 Q8IYF1 ELOA2_HUMAN elongin A2 738 regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter integral to membrane|nucleus DNA binding ovary(2)|large_intestine(1)|pancreas(1) 4 CCTTGGCCATCAGCGGGGCCA 0.562 NA 21 127 0 0 0 0 CDH19 28513 broad.mit.edu 37 18 64202289 64202289 + Missense_Mutation SNP T T C TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 901c2ed5-8348-4dd9-a84c-6c0b18d6525e 10c383d7-07ab-4de5-b6e3-e19dd22e0d47 g.chr18:64202289T>C uc002lkc.1 - 8 1408 c.1270A>G c.(1270-1272)ACA>GCA p.T424A CDH19_uc010dql.1_RNA|CDH19_uc010xey.1_Missense_Mutation_p.T424A|CDH19_uc002lkd.2_Missense_Mutation_p.T424A NM_021153 NP_066976 Q9H159 CAD19_HUMAN cadherin 19, type 2 preproprotein 424 Cadherin 4.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(1)|skin(1) 2 Esophageal squamous(42;0.0132) GAGTTACTTGTAGTGATTGTA 0.328 NA 4 33 0 0 0 0 TMPRSS9 360200 broad.mit.edu 37 19 2408379 2408379 + Missense_Mutation SNP G G A TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 901c2ed5-8348-4dd9-a84c-6c0b18d6525e 10c383d7-07ab-4de5-b6e3-e19dd22e0d47 g.chr19:2408379G>A uc010xgx.1 + 7 766 c.766G>A c.(766-768)GCC>ACC p.A256T TMPRSS9_uc002lvv.1_Missense_Mutation_p.A290T NM_182973 NP_892018 Q7Z410 TMPS9_HUMAN transmembrane protease, serine 9 256 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) GAAGTGGGTGGCCTACGTGGG 0.542 NA 17 21 0 0 0 0 HDGFRP2 84717 broad.mit.edu 37 19 4499579 4499579 + Missense_Mutation SNP A A G TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 901c2ed5-8348-4dd9-a84c-6c0b18d6525e 10c383d7-07ab-4de5-b6e3-e19dd22e0d47 g.chr19:4499579A>G uc002mao.2 + 14 1760 c.1667A>G c.(1666-1668)GAG>GGG p.E556G HDGFRP2_uc002map.2_Missense_Mutation_p.E556G|HDGFRP2_uc010dtz.1_RNA|HDGFRP2_uc010dua.2_Missense_Mutation_p.E21G|HDGFRP2_uc002maq.1_Missense_Mutation_p.E21G NM_001001520 NP_001001520 Q7Z4V5 HDGR2_HUMAN hepatoma-derived growth factor-related protein 2 556 Potential. transcription, DNA-dependent nucleus DNA binding|protein binding 0 CCAAAGATCgaggcggtgcag 0.279 NA 8 3 0 0 0 0 CYP4F3 4051 broad.mit.edu 37 19 15760804 15760804 + Silent SNP A A T TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 901c2ed5-8348-4dd9-a84c-6c0b18d6525e 10c383d7-07ab-4de5-b6e3-e19dd22e0d47 g.chr19:15760804A>T uc002nbj.2 + 7 779 c.729A>T c.(727-729)ATA>ATT p.I243I CYP4F3_uc010xok.1_Silent_p.I243I|CYP4F3_uc010xol.1_Silent_p.I243I|CYP4F3_uc010xom.1_Silent_p.I94I|CYP4F3_uc002nbk.2_Silent_p.I243I|CYP4F3_uc010xon.1_5'UTR NM_000896 NP_000887 Q08477 CP4F3_HUMAN cytochrome P450, family 4, subfamily F, 243 leukotriene metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding ovary(3) 3 TCCTGTACATAGACTTCCTGT 0.562 NA 7 71 0 0 0 0 ZNF506 440515 broad.mit.edu 37 19 19905448 19905448 + Missense_Mutation SNP C C G TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 901c2ed5-8348-4dd9-a84c-6c0b18d6525e 10c383d7-07ab-4de5-b6e3-e19dd22e0d47 g.chr19:19905448C>G uc010eci.2 - 4 1396 c.1248G>C c.(1246-1248)AAG>AAC p.K416N ZNF506_uc002nog.2_Intron|ZNF506_uc002noh.3_Missense_Mutation_p.K384N NM_001099269 NP_001092739 Q5JVG8 ZN506_HUMAN zinc finger protein 506 isoform 1 416 C2H2-type 8. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleolus DNA binding|zinc ion binding 0 TATGAATTTTCTTATGTTTAT 0.338 NA 28 29 0 0 0 0 NPHS1 4868 broad.mit.edu 37 19 36340485 36340485 + Missense_Mutation SNP G G T TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 901c2ed5-8348-4dd9-a84c-6c0b18d6525e 10c383d7-07ab-4de5-b6e3-e19dd22e0d47 g.chr19:36340485G>T uc002oby.2 - 6 679 c.679C>A c.(679-681)CCC>ACC p.P227T NM_004646 NP_004637 O60500 NPHN_HUMAN nephrin precursor 227 Ig-like C2-type 2.|Extracellular (Potential). cell adhesion|excretion|muscle organ development integral to plasma membrane ovary(4)|skin(1) 5 all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0515) GCCTTGATGGGGGCCTCCAGT 0.587 NA 28 55 1.31e-24 1.79e-24 1 0 HIF3A 64344 broad.mit.edu 37 19 46815462 46815462 + Missense_Mutation SNP G G C TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 901c2ed5-8348-4dd9-a84c-6c0b18d6525e 10c383d7-07ab-4de5-b6e3-e19dd22e0d47 g.chr19:46815462G>C uc002peh.2 + 7 844 c.815G>C c.(814-816)TGT>TCT p.C272S HIF3A_uc002pef.1_Missense_Mutation_p.C272S|HIF3A_uc002peg.3_Missense_Mutation_p.C272S|HIF3A_uc010xxx.1_RNA|HIF3A_uc002pei.3_Missense_Mutation_p.C216S|HIF3A_uc002pej.1_Missense_Mutation_p.C203S|HIF3A_uc002pek.2_Missense_Mutation_p.C216S|HIF3A_uc010xxy.1_Missense_Mutation_p.C203S|HIF3A_uc002pel.2_Missense_Mutation_p.C270S|HIF3A_uc010xxz.1_Missense_Mutation_p.C221S NM_152795 NP_690008 Q9Y2N7 HIF3A_HUMAN hypoxia inducible factor 3, alpha subunit 272 PAS 2. regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|signal transducer activity upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1) 3 Ovarian(192;0.00965)|all_neural(266;0.0887) OV - Ovarian serous cystadenocarcinoma(262;0.00204)|all cancers(93;0.0107)|GBM - Glioblastoma multiforme(486;0.0489)|Epithelial(262;0.136) CTGATCGGCTGTTCCGCCTAC 0.602 NA 57 98 0 0 0 0 ZNF432 9668 broad.mit.edu 37 19 52537631 52537631 + Missense_Mutation SNP C C A TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 901c2ed5-8348-4dd9-a84c-6c0b18d6525e 10c383d7-07ab-4de5-b6e3-e19dd22e0d47 g.chr19:52537631C>A uc002pyk.2 - 5 1619 c.1301G>T c.(1300-1302)TGT>TTT p.C434F NM_014650 NP_055465 O94892 ZN432_HUMAN zinc finger protein 432 434 C2H2-type 9. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|pancreas(1) 3 all_neural(266;0.117) GBM - Glioblastoma multiforme(134;0.0054)|OV - Ovarian serous cystadenocarcinoma(262;0.0182) ACCTTTTCCACATTCACTACA 0.408 NA 16 71 6.32e-08 7.49e-08 1 0 ZNF610 162963 broad.mit.edu 37 19 52870011 52870011 + Missense_Mutation SNP G G C rs144093967 byFrequency TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 901c2ed5-8348-4dd9-a84c-6c0b18d6525e 10c383d7-07ab-4de5-b6e3-e19dd22e0d47 g.chr19:52870011G>C uc002pyx.3 + 6 1786 c.1380G>C c.(1378-1380)CAG>CAC p.Q460H ZNF610_uc002pyy.3_Missense_Mutation_p.Q460H|ZNF610_uc002pyz.3_Missense_Mutation_p.Q417H|ZNF610_uc002pza.2_Missense_Mutation_p.Q460H NM_001161426 NP_001154898 Q8N9Z0 ZN610_HUMAN zinc finger protein 610 isoform a 460 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(2)|upper_aerodigestive_tract(1) 3 OV - Ovarian serous cystadenocarcinoma(262;0.00396)|GBM - Glioblastoma multiforme(134;0.00434) GTACCTTACAGATGGAATGAA 0.393 NA 3 50 0 0 0 0 ZNF415 55786 broad.mit.edu 37 19 53612056 53612056 + Silent SNP G G A TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 901c2ed5-8348-4dd9-a84c-6c0b18d6525e 10c383d7-07ab-4de5-b6e3-e19dd22e0d47 g.chr19:53612056G>A uc002qax.2 - 7 1735 c.1386C>T c.(1384-1386)TGC>TGT p.C462C ZNF415_uc002qat.2_Silent_p.C426C|ZNF415_uc002qaw.2_Silent_p.C414C|ZNF415_uc010yds.1_Silent_p.C414C|ZNF415_uc010ydt.1_Silent_p.C414C|ZNF415_uc002qau.2_Silent_p.C401C|ZNF415_uc002qav.2_Silent_p.C426C|ZNF415_uc002qba.2_Silent_p.C184C|ZNF415_uc002qay.2_Silent_p.C401C|ZNF415_uc002qaz.2_Silent_p.C462C NR_028343 Q09FC8 ZN415_HUMAN RecName: Full=Zinc finger protein 415; 462 C2H2-type 8. regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|microtubule cytoskeleton|nucleolus DNA binding|zinc ion binding ovary(1) 1 GBM - Glioblastoma multiforme(134;0.0191) CACATTCATTGCATTTGTAAG 0.403 NA 23 41 0 0 0 0 NLRP12 91662 broad.mit.edu 37 19 54313980 54313980 + Nonsense_Mutation SNP G G T TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 901c2ed5-8348-4dd9-a84c-6c0b18d6525e 10c383d7-07ab-4de5-b6e3-e19dd22e0d47 g.chr19:54313980G>T uc002qch.3 - 3 1153 c.933C>A c.(931-933)TGC>TGA p.C311* NLRP12_uc010eqw.2_5'Flank|NLRP12_uc002qci.3_Nonsense_Mutation_p.C311*|NLRP12_uc002qcj.3_Nonsense_Mutation_p.C311*|NLRP12_uc002qck.3_RNA|NLRP12_uc010eqx.2_Nonsense_Mutation_p.C311* NM_144687 NP_653288 P59046 NAL12_HUMAN NLR family, pyrin domain containing 12 isoform 311 NACHT. negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|negative regulation of Toll signaling pathway|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB cytoplasm ATP binding|caspase activator activity|protein binding ovary(4)|upper_aerodigestive_tract(2)|lung(1) 7 Ovarian(34;0.19) GBM - Glioblastoma multiforme(134;0.026) CCCAGCAGAGGCACCAGGGTC 0.567 NA 14 46 2.32e-09 2.83e-09 1 0 TSEN34 79042 broad.mit.edu 37 19 54695621 54695621 + Missense_Mutation SNP G G A TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 901c2ed5-8348-4dd9-a84c-6c0b18d6525e 10c383d7-07ab-4de5-b6e3-e19dd22e0d47 g.chr19:54695621G>A uc002qdu.2 + 3 402 c.293G>A c.(292-294)AGC>AAC p.S98N MBOAT7_uc002qdq.2_5'Flank|MBOAT7_uc002qdr.2_5'Flank|MBOAT7_uc002qds.2_5'Flank|MBOAT7_uc010yen.1_5'Flank|MBOAT7_uc002qdt.3_5'Flank|TSEN34_uc010yeo.1_Missense_Mutation_p.S98N|TSEN34_uc002qdv.2_Missense_Mutation_p.S98N|TSEN34_uc002qdw.2_Missense_Mutation_p.S98N NM_024075 NP_076980 Q9BSV6 SEN34_HUMAN tRNA-intron endonuclease 34 98 mRNA processing|tRNA-type intron splice site recognition and cleavage nucleolus|tRNA-intron endonuclease complex nucleic acid binding|tRNA-intron endonuclease activity 0 all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19) CAGGAGCAGAGCGCCTTGGCA 0.582 NA 25 72 0 0 0 0 LILRB5 10990 broad.mit.edu 37 19 54761048 54761048 + Silent SNP G G A TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 901c2ed5-8348-4dd9-a84c-6c0b18d6525e 10c383d7-07ab-4de5-b6e3-e19dd22e0d47 g.chr19:54761048G>A uc002qex.2 - 1 120 c.9C>T c.(7-9)CTC>CTT p.L3L LILRA6_uc002qew.1_Intron|LILRB5_uc010yer.1_Silent_p.L3L|LILRB5_uc002qey.2_Silent_p.L3L|LILRB5_uc002qez.2_Silent_p.L3L|LILRB5_uc002qfa.1_5'UTR|LILRB5_uc010yes.1_RNA NM_006840 NP_006831 O75023 LIRB5_HUMAN leukocyte immunoglobulin-like receptor, 3 cell surface receptor linked signaling pathway|defense response integral to membrane transmembrane receptor activity ovary(1)|pancreas(1) 2 all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.105) CTGAGAGGGTGAGGGTCATGG 0.587 NA 9 44 0 0 0 0 ZNF471 57573 broad.mit.edu 37 19 57035697 57035697 + Missense_Mutation SNP G G T TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 901c2ed5-8348-4dd9-a84c-6c0b18d6525e 10c383d7-07ab-4de5-b6e3-e19dd22e0d47 g.chr19:57035697G>T uc002qnh.2 + 5 394 c.261G>T c.(259-261)TGG>TGT p.W87C NM_020813 NP_065864 Q9BX82 ZN471_HUMAN zinc finger protein 471 87 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding large_intestine(1)|ovary(1) 2 Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157) GBM - Glioblastoma multiforme(193;0.0307) TTTCAGATTGGGAATCTATAT 0.333 NA 14 50 2.23e-06 2.55e-06 1 0 ZNF814 730051 broad.mit.edu 37 19 58385546 58385546 + Missense_Mutation SNP G G T TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 901c2ed5-8348-4dd9-a84c-6c0b18d6525e 10c383d7-07ab-4de5-b6e3-e19dd22e0d47 g.chr19:58385546G>T uc002qqo.2 - 3 1484 c.1212C>A c.(1210-1212)GAC>GAA p.D404E ZNF814_uc002qqk.2_Intron|ZNF814_uc010yhl.1_Intron NM_001144989 NP_001138461 B7Z6K7 ZN814_HUMAN zinc finger protein 814 404 regulation of transcription, DNA-dependent intracellular nucleic acid binding|zinc ion binding 0 AATGTTTTTTGTCAGTGTGAA 0.393 NA 3 11 0.004672 0.00481588 1 0 ZNF135 7694 broad.mit.edu 37 19 58579086 58579086 + Missense_Mutation SNP T T A TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 901c2ed5-8348-4dd9-a84c-6c0b18d6525e 10c383d7-07ab-4de5-b6e3-e19dd22e0d47 g.chr19:58579086T>A uc010yhq.1 + 5 1366 c.1270T>A c.(1270-1272)TGT>AGT p.C424S ZNF135_uc002qre.2_Missense_Mutation_p.C412S|ZNF135_uc002qrd.1_Intron|ZNF135_uc002qrf.2_Missense_Mutation_p.C370S|ZNF135_uc002qrg.2_Missense_Mutation_p.C382S|ZNF135_uc010yhr.1_Missense_Mutation_p.C233S NM_003436 NP_003427 B4DHH9 B4DHH9_HUMAN zinc finger protein 135 isoform 2 424 regulation of transcription, DNA-dependent intracellular nucleic acid binding|zinc ion binding ovary(1) 1 Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.147)|Ovarian(87;0.156) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0161) GCCCTATGAGTGTGGTGAGTG 0.542 NA 18 25 0 0 0 0 KIDINS220 57498 broad.mit.edu 37 2 8919048 8919048 + Missense_Mutation SNP G G T TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 901c2ed5-8348-4dd9-a84c-6c0b18d6525e 10c383d7-07ab-4de5-b6e3-e19dd22e0d47 g.chr2:8919048G>T uc002qzc.2 - 19 2774 c.2592C>A c.(2590-2592)GAC>GAA p.D864E KIDINS220_uc010yiv.1_Missense_Mutation_p.D630E|KIDINS220_uc002qzd.2_Missense_Mutation_p.D822E|KIDINS220_uc010yiw.1_Missense_Mutation_p.D865E NM_020738 NP_065789 Q9ULH0 KDIS_HUMAN kinase D-interacting substrate of 220 kDa 864 KAP NTPase.|Cytoplasmic (Potential). activation of MAPKK activity|nerve growth factor receptor signaling pathway cytosol|integral to membrane ovary(3)|central_nervous_system(1) 4 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) AGCATGGAACGTCTCCATTTG 0.398 NA 17 114 1.34e-09 1.64e-09 1 0 GALNT14 79623 broad.mit.edu 37 2 31133837 31133837 + Missense_Mutation SNP C C G TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 901c2ed5-8348-4dd9-a84c-6c0b18d6525e 10c383d7-07ab-4de5-b6e3-e19dd22e0d47 g.chr2:31133837C>G uc002rnr.2 - 15 2208 c.1589G>C c.(1588-1590)GGC>GCC p.G530A GALNT14_uc002rnq.2_Missense_Mutation_p.G510A|GALNT14_uc002rns.2_Missense_Mutation_p.G535A|GALNT14_uc010ymr.1_Missense_Mutation_p.G495A NM_024572 NP_078848 Q96FL9 GLT14_HUMAN N-acetylgalactosaminyltransferase 14 530 Lumenal (Potential).|Ricin B-type lectin. Golgi membrane|integral to membrane polypeptide N-acetylgalactosaminyltransferase activity|sugar binding upper_aerodigestive_tract(2)|skin(1) 3 Acute lymphoblastic leukemia(172;0.155) GATTTCCTTGCCGTTCTCGGT 0.542 NA 16 71 0 0 0 0 SMEK2 57223 broad.mit.edu 37 2 55831140 55831140 + Missense_Mutation SNP C C T TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 901c2ed5-8348-4dd9-a84c-6c0b18d6525e 10c383d7-07ab-4de5-b6e3-e19dd22e0d47 g.chr2:55831140C>T uc002rzc.2 - 3 646 c.271G>A c.(271-273)GAT>AAT p.D91N SMEK2_uc002rzb.2_Missense_Mutation_p.D91N|SMEK2_uc002rzd.2_Missense_Mutation_p.D91N|SMEK2_uc002rza.2_5'UTR NM_001122964 NP_001116436 Q5MIZ7 P4R3B_HUMAN SMEK homolog 2, suppressor of mek1 isoform 1 91 WH1. microtubule organizing center|nucleus protein binding skin(1) 1 LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132) CAGATCTCATCACAGCCAGCT 0.299 NA 16 65 0 0 0 0 FER1L5 90342 broad.mit.edu 37 2 97370099 97370099 + Silent SNP G G A TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 901c2ed5-8348-4dd9-a84c-6c0b18d6525e 10c383d7-07ab-4de5-b6e3-e19dd22e0d47 g.chr2:97370099G>A uc010fia.2 + 51 6057 c.6057G>A c.(6055-6057)CCG>CCA p.P2019P FER1L5_uc002sws.3_Silent_p.P728P|FER1L5_uc002swt.3_Silent_p.P728P|FER1L5_uc010yus.1_Silent_p.P727P NM_001113382 NP_001106853 A0AVI2 FR1L5_HUMAN fer-1-like 5 isoform 2 2019 integral to membrane ovary(1) 1 ATTCAGCTCCGGTGAGTGGCA 0.483 NA 58 120 0 0 0 0 LRP1B 53353 broad.mit.edu 37 2 141027836 141027836 + Missense_Mutation SNP G G C TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 901c2ed5-8348-4dd9-a84c-6c0b18d6525e 10c383d7-07ab-4de5-b6e3-e19dd22e0d47 g.chr2:141027836G>C uc002tvj.1 - 86 14194 c.13222C>G c.(13222-13224)CCC>GCC p.P4408A NM_018557 NP_061027 Q9NZR2 LRP1B_HUMAN low density lipoprotein-related protein 1B 4408 Extracellular (Potential).|EGF-like 14. 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) TTTGTCTCGGGGTCCAGCTGG 0.403 NA TSP Lung(27;0.18) 19 38 0 0 0 0 LRP1B 53353 broad.mit.edu 37 2 141128763 141128763 + Silent SNP A A G TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 901c2ed5-8348-4dd9-a84c-6c0b18d6525e 10c383d7-07ab-4de5-b6e3-e19dd22e0d47 g.chr2:141128763A>G uc002tvj.1 - 70 11832 c.10860T>C c.(10858-10860)GCT>GCC p.A3620A NM_018557 NP_061027 Q9NZR2 LRP1B_HUMAN low density lipoprotein-related protein 1B 3620 Extracellular (Potential).|LDL-receptor class A 28. 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) CTGAACCATCAGCACAATCAT 0.299 NA TSP Lung(27;0.18) 3 21 0 0 0 0 LRP1B 53353 broad.mit.edu 37 2 141571366 141571366 + Missense_Mutation SNP A A G TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 901c2ed5-8348-4dd9-a84c-6c0b18d6525e 10c383d7-07ab-4de5-b6e3-e19dd22e0d47 g.chr2:141571366A>G uc002tvj.1 - 32 6191 c.5219T>C c.(5218-5220)ATA>ACA p.I1740T NM_018557 NP_061027 Q9NZR2 LRP1B_HUMAN low density lipoprotein-related protein 1B 1740 Extracellular (Potential).|LDL-receptor class B 16. 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) CACATAGTCTATCGATAGACC 0.343 NA TSP Lung(27;0.18) 7 58 0 0 0 0 MBD5 55777 broad.mit.edu 37 2 149226943 149226943 + Silent SNP A A T TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 901c2ed5-8348-4dd9-a84c-6c0b18d6525e 10c383d7-07ab-4de5-b6e3-e19dd22e0d47 g.chr2:149226943A>T uc002twm.3 + 9 2419 c.1431A>T c.(1429-1431)GTA>GTT p.V477V MBD5_uc010zbs.1_RNA|MBD5_uc010fns.2_Silent_p.V477V|MBD5_uc002twn.1_5'Flank NM_018328 NP_060798 Q9P267 MBD5_HUMAN methyl-CpG binding domain protein 5 477 chromosome|nucleus chromatin binding|DNA binding skin(3)|ovary(2) 5 BRCA - Breast invasive adenocarcinoma(221;0.0569) TGCCACCTGTAGGACCCCAGG 0.502 NA 7 31 0 0 0 0 IFIH1 64135 broad.mit.edu 37 2 163134806 163134806 + Missense_Mutation SNP C C A TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 901c2ed5-8348-4dd9-a84c-6c0b18d6525e 10c383d7-07ab-4de5-b6e3-e19dd22e0d47 g.chr2:163134806C>A uc002uce.2 - 9 1896 c.1674G>T c.(1672-1674)ATG>ATT p.M558I NM_022168 NP_071451 Q9BYX4 IFIH1_HUMAN interferon induced with helicase C domain 1 558 detection of virus|innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|regulation of apoptosis cytosol|nucleus ATP binding|DNA binding|double-stranded RNA binding|helicase activity|protein binding|ribonucleoprotein binding|zinc ion binding ovary(1) 1 GAATCCTTGTCATTATTTCTA 0.289 NA 5 38 1.24e-05 1.38e-05 1 0 COL5A2 1290 broad.mit.edu 37 2 189962019 189962019 + Missense_Mutation SNP C C T TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 901c2ed5-8348-4dd9-a84c-6c0b18d6525e 10c383d7-07ab-4de5-b6e3-e19dd22e0d47 g.chr2:189962019C>T uc002uqk.2 - 6 715 c.440G>A c.(439-441)GGG>GAG p.G147E NM_000393 NP_000384 P05997 CO5A2_HUMAN alpha 2 type V collagen preproprotein 147 axon guidance|collagen fibril organization|eye morphogenesis|skin development collagen type V extracellular matrix structural constituent ovary(2) 2 OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127) TCCTTTTGGCCCTCGCTCTCC 0.443 NA 8 55 0 0 0 0 DNAH7 56171 broad.mit.edu 37 2 196834805 196834805 + Missense_Mutation SNP C C T TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 901c2ed5-8348-4dd9-a84c-6c0b18d6525e 10c383d7-07ab-4de5-b6e3-e19dd22e0d47 g.chr2:196834805C>T uc002utj.3 - 17 2173 c.2072G>A c.(2071-2073)CGG>CAG p.R691Q NM_018897 NP_061720 Q8WXX0 DYH7_HUMAN dynein, axonemal, heavy chain 7 691 Stem (By similarity).|Potential. ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity skin(10)|ovary(2) 12 CTCCACAAACCGTTCACACCG 0.323 NA 19 54 0 0 0 0 PLCL1 5334 broad.mit.edu 37 2 198950188 198950188 + Missense_Mutation SNP C C G rs151231252 TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 901c2ed5-8348-4dd9-a84c-6c0b18d6525e 10c383d7-07ab-4de5-b6e3-e19dd22e0d47 g.chr2:198950188C>G uc010fsp.2 + 2 2238 c.1947C>G c.(1945-1947)ATC>ATG p.I649M PLCL1_uc002uuv.3_Missense_Mutation_p.I570M NM_001114661 NP_001108133 Q15111 PLCL1_HUMAN RecName: Full=Inactive phospholipase C-like protein 1; Short=PLC-L1; AltName: Full=Phospholipase C-deleted in lung carcinoma; AltName: Full=Phospholipase C-related but catalytically inactive protein; Short=PRIP; 649 PI-PLC Y-box. intracellular signal transduction|lipid metabolic process cytoplasm calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity ovary(1)|skin(1) 2 Quinacrine(DB01103) CCATGAGGATCGATTCCAGTA 0.423 NA 5 45 0 0 0 0 ABCA12 26154 broad.mit.edu 37 2 215880315 215880315 + Nonsense_Mutation SNP T T A TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 901c2ed5-8348-4dd9-a84c-6c0b18d6525e 10c383d7-07ab-4de5-b6e3-e19dd22e0d47 g.chr2:215880315T>A uc002vew.2 - 15 2075 c.1855A>T c.(1855-1857)AAA>TAA p.K619* ABCA12_uc002vev.2_Nonsense_Mutation_p.K301*|ABCA12_uc010zjn.1_5'UTR NM_173076 NP_775099 Q86UK0 ABCAC_HUMAN ATP-binding cassette, sub-family A, member 12 619 cellular homeostasis|lipid transport integral to membrane ATP binding|ATPase activity ovary(6)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|skin(1)|pancreas(1) 11 Renal(323;0.127) Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011) CAGAATTCTTTCATTGCATCT 0.403 NA 8 25 0 0 0 0 MYEOV2 150678 broad.mit.edu 37 2 241066107 241066107 + Missense_Mutation SNP C C A TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 901c2ed5-8348-4dd9-a84c-6c0b18d6525e 10c383d7-07ab-4de5-b6e3-e19dd22e0d47 g.chr2:241066107C>A uc002vyu.1 - 5 632 c.632G>T c.(631-633)AGC>ATC p.S211I NM_138336 NP_612209 Q8WXC6 MYOV2_HUMAN hypothetical protein LOC150678 isoform 1 Error:Variant_position_missing_in_Q8WXC6_after_alignment 0 all_epithelial(40;1.56e-11)|Breast(86;0.0002)|Renal(207;0.00571)|Ovarian(221;0.104)|all_hematologic(139;0.182)|all_lung(227;0.229)|Melanoma(123;0.238) Epithelial(121;3.81e-30)|all cancers(36;1.1e-27)|OV - Ovarian serous cystadenocarcinoma(60;2.74e-14)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;8.54e-06)|Lung(119;0.00361)|LUSC - Lung squamous cell carcinoma(224;0.0153)|Colorectal(34;0.0202)|COAD - Colon adenocarcinoma(134;0.143) GCTGTCTTCGCTGACCTCTCG 0.478 NA 41 57 2.66e-13 3.42e-13 1 0 CSNK2A1 1457 broad.mit.edu 37 20 489118 489118 + Nonsense_Mutation SNP G G T TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 901c2ed5-8348-4dd9-a84c-6c0b18d6525e 10c383d7-07ab-4de5-b6e3-e19dd22e0d47 g.chr20:489118G>T uc002wdw.1 - 3 471 c.78C>A c.(76-78)TAC>TAA p.Y26* CSNK2A1_uc002wdx.1_Nonsense_Mutation_p.Y26*|CSNK2A1_uc002wdy.1_Intron NM_177559 NP_808227 P68400 CSK21_HUMAN casein kinase II alpha 1 subunit isoform a 26 axon guidance|Wnt receptor signaling pathway cytosol|NuRD complex|plasma membrane|Sin3 complex ATP binding|protein N-terminus binding|protein serine/threonine kinase activity ovary(1) 1 Breast(17;0.231) OV - Ovarian serous cystadenocarcinoma(29;0.0969) CATGTGACTCGTAATCCCAGT 0.458 NA 33 29 1.59e-14 2.07e-14 1 0 ZHX3 23051 broad.mit.edu 37 20 39832794 39832794 + Missense_Mutation SNP C C A TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 901c2ed5-8348-4dd9-a84c-6c0b18d6525e 10c383d7-07ab-4de5-b6e3-e19dd22e0d47 g.chr20:39832794C>A uc002xjs.1 - 3 1141 c.763G>T c.(763-765)GGG>TGG p.G255W ZHX3_uc002xjq.1_Intron|ZHX3_uc002xjr.1_Missense_Mutation_p.G255W|ZHX3_uc002xjt.1_Missense_Mutation_p.G255W|ZHX3_uc002xju.1_Missense_Mutation_p.G255W|ZHX3_uc002xjv.1_Missense_Mutation_p.G255W|ZHX3_uc002xjw.1_Missense_Mutation_p.G255W|ZHX3_uc010ggg.1_Missense_Mutation_p.G255W NM_015035 NP_055850 Q9H4I2 ZHX3_HUMAN zinc fingers and homeoboxes 3 255 Required for homodimerization and interaction with NFYA. negative regulation of transcription, DNA-dependent cytoplasm|nucleolus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1)|pancreas(1)|skin(1) 3 Myeloproliferative disorder(115;0.00425) ATCAGGGGCCCGTTGGCGGCA 0.582 NA 22 69 1.87e-06 2.14e-06 1 0 L3MBTL 26013 broad.mit.edu 37 20 42168941 42168941 + Missense_Mutation SNP T T A TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 901c2ed5-8348-4dd9-a84c-6c0b18d6525e 10c383d7-07ab-4de5-b6e3-e19dd22e0d47 g.chr20:42168941T>A uc010zwh.1 + 20 2304 c.2258T>A c.(2257-2259)ATC>AAC p.I753N L3MBTL_uc002xkl.2_Missense_Mutation_p.I685N|L3MBTL_uc002xkm.2_Missense_Mutation_p.I685N|L3MBTL_uc010ggl.2_Missense_Mutation_p.I690N|L3MBTL_uc002xkn.1_Missense_Mutation_p.I444N|L3MBTL_uc002xko.2_Missense_Mutation_p.I337N|L3MBTL_uc002xkp.2_Missense_Mutation_p.I73N|SGK2_uc002xkq.1_5'UTR NM_015478 NP_056293 Q9Y468 LMBL1_HUMAN l(3)mbt-like isoform I 685 SAM. 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) AAGTGGACCATCGATGAGGTG 0.612 NA 34 43 0 0 0 0 EDN3 1908 broad.mit.edu 37 20 57896161 57896161 + Missense_Mutation SNP C C T TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 901c2ed5-8348-4dd9-a84c-6c0b18d6525e 10c383d7-07ab-4de5-b6e3-e19dd22e0d47 g.chr20:57896161C>T uc002yap.2 + 3 824 c.455C>T c.(454-456)TCA>TTA p.S152L EDN3_uc002yao.1_Missense_Mutation_p.S152L|EDN3_uc002yaq.2_Missense_Mutation_p.S152L|EDN3_uc002yar.2_Missense_Mutation_p.S152L|EDN3_uc002yas.2_Missense_Mutation_p.S152L NM_000114 NP_000105 P14138 EDN3_HUMAN endothelin 3 isoform 1 preproprotein 152 cell surface receptor linked signaling pathway|inositol phosphate-mediated signaling|neutrophil chemotaxis|peptide hormone secretion|positive regulation of heart rate|positive regulation of hormone secretion|positive regulation of leukocyte chemotaxis|positive regulation of MAP kinase activity|positive regulation of mitosis|regulation of systemic arterial blood pressure by endothelin|regulation of vasoconstriction|vein smooth muscle contraction extracellular space|soluble fraction endothelin B receptor binding|hormone activity skin(1) 1 all_lung(29;0.0115) CTGCAGCTCTCACATCGGCCA 0.582 NA 33 77 0 0 0 0 LAMA5 3911 broad.mit.edu 37 20 60908211 60908211 + Missense_Mutation SNP G G A TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 901c2ed5-8348-4dd9-a84c-6c0b18d6525e 10c383d7-07ab-4de5-b6e3-e19dd22e0d47 g.chr20:60908211G>A uc002ycq.2 - 26 3284 c.3217C>T c.(3217-3219)CGG>TGG p.R1073W NM_005560 NP_005551 O15230 LAMA5_HUMAN laminin alpha 5 precursor 1073 Domain IV 1 (domain IV B). angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex integrin binding ovary(1)|pancreas(1)|skin(1) 3 Breast(26;1.57e-08) BRCA - Breast invasive adenocarcinoma(19;4.36e-06) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) GGGCAGGGCCGGGGCAGGCTG 0.701 NA 8 6 0 0 0 0 TFIP11 24144 broad.mit.edu 37 22 26894935 26894935 + Missense_Mutation SNP T T A TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 901c2ed5-8348-4dd9-a84c-6c0b18d6525e 10c383d7-07ab-4de5-b6e3-e19dd22e0d47 g.chr22:26894935T>A uc003acr.2 - 9 1710 c.1336A>T c.(1336-1338)ACT>TCT p.T446S TFIP11_uc003acs.2_Missense_Mutation_p.T446S|TFIP11_uc003act.2_Missense_Mutation_p.T446S NM_012143 NP_036275 Q9UBB9 TFP11_HUMAN tuftelin interacting protein 11 446 biomineral tissue development catalytic step 2 spliceosome|cytoplasm|nuclear speck DNA binding|sequence-specific DNA binding transcription factor activity 0 GTGCCATAAGTGCAGTCCTGA 0.557 NA 106 63 0 0 0 0 ADSL 158 broad.mit.edu 37 22 40757500 40757501 + Missense_Mutation DNP GC GC TG TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 901c2ed5-8348-4dd9-a84c-6c0b18d6525e 10c383d7-07ab-4de5-b6e3-e19dd22e0d47 g.chr22:40757500_40757501GC>TG uc003ayp.3 + 9 930_931 c.871_872GC>TG c.(871-873)GCG>TGG p.A291W ADSL_uc003ays.3_Missense_Mutation_p.A291W|ADSL_uc003ayq.3_Missense_Mutation_p.A291W|ADSL_uc003ayr.3_Missense_Mutation_p.A67W|ADSL_uc003ayt.3_Missense_Mutation_p.A276W|ADSL_uc010gyb.1_RNA NM_000026 NP_000017 P30566 PUR8_HUMAN adenylosuccinate lyase isoform a 291 AMP biosynthetic process|protein tetramerization|purine base metabolic process cytosol (S)-2-(5-amino-1-(5-phospho-D-ribosyl)imidazole-4-carboxamido)succinate AMP-lyase (fumarate-forming) activity|N6-(1,2-dicarboxyethyl)AMP AMP-lyase (fumarate-forming) activity ovary(1) 1 AGGCTCAAGTGCGATGCCATAT 0.525 NA 17 99 0 0 0 0 SGSM3 27352 broad.mit.edu 37 22 40800432 40800432 + Silent SNP C C T TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 901c2ed5-8348-4dd9-a84c-6c0b18d6525e 10c383d7-07ab-4de5-b6e3-e19dd22e0d47 g.chr22:40800432C>T uc003ayu.1 + 5 548 c.339C>T c.(337-339)GCC>GCT p.A113A SGSM3_uc010gyc.1_Silent_p.A113A|SGSM3_uc011aos.1_Silent_p.A46A|SGSM3_uc011aot.1_Silent_p.A50A|SGSM3_uc010gyd.1_Silent_p.A113A NM_015705 NP_056520 Q96HU1 SGSM3_HUMAN small G protein signaling modulator 3 113 cell cycle arrest|Rap protein signal transduction cytoplasm Rab GTPase activator activity|Rab GTPase binding ovary(2) 2 TGGTGCTGGCCGGCATCCCAC 0.607 NA 23 12 0 0 0 0 CELSR1 9620 broad.mit.edu 37 22 46806456 46806456 + Missense_Mutation SNP G G A TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 901c2ed5-8348-4dd9-a84c-6c0b18d6525e 10c383d7-07ab-4de5-b6e3-e19dd22e0d47 g.chr22:46806456G>A uc003bhw.1 - 7 4772 c.4772C>T c.(4771-4773)TCC>TTC p.S1591F CELSR1_uc011arc.1_5'Flank NM_014246 NP_055061 Q9NYQ6 CELR1_HUMAN cadherin EGF LAG seven-pass G-type receptor 1 1591 Extracellular (Potential).|Laminin G-like 1. central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway integral to plasma membrane calcium ion binding|G-protein coupled receptor activity|protein dimerization activity lung(4)|breast(4)|pancreas(2)|skin(1) 11 Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766) UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171) CAGATCCAGGGACCTGGGTAG 0.642 NA 32 26 0 0 0 0 CNTN6 27255 broad.mit.edu 37 3 1444056 1444056 + Missense_Mutation SNP A A G TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 901c2ed5-8348-4dd9-a84c-6c0b18d6525e 10c383d7-07ab-4de5-b6e3-e19dd22e0d47 g.chr3:1444056A>G uc003boz.2 + 22 3139 c.2872A>G c.(2872-2874)ACA>GCA p.T958A CNTN6_uc011asj.1_Missense_Mutation_p.T886A|CNTN6_uc003bpa.2_Missense_Mutation_p.T958A NM_014461 NP_055276 Q9UQ52 CNTN6_HUMAN contactin 6 precursor 958 Fibronectin type-III 4. axon guidance|cell adhesion|central nervous system development|Notch signaling pathway anchored to membrane|plasma membrane skin(3)|lung(2)|breast(2)|pancreas(1) 8 all_cancers(2;0.000164)|all_epithelial(2;0.107) Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139) AACAAACAATACATCAGCTGA 0.368 NA 19 21 0 0 0 0 ATP2B2 491 broad.mit.edu 37 3 10401651 10401651 + Missense_Mutation SNP G G A TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 901c2ed5-8348-4dd9-a84c-6c0b18d6525e 10c383d7-07ab-4de5-b6e3-e19dd22e0d47 g.chr3:10401651G>A uc003bvt.2 - 13 2255 c.1816C>T c.(1816-1818)CGC>TGC p.R606C ATP2B2_uc003bvv.2_Missense_Mutation_p.R561C|ATP2B2_uc003bvw.2_Missense_Mutation_p.R561C|ATP2B2_uc010hdo.2_Missense_Mutation_p.R311C NM_001001331 NP_001001331 Q01814 AT2B2_HUMAN plasma membrane calcium ATPase 2 isoform 1 606 Cytoplasmic (Potential). ATP biosynthetic process|cytosolic calcium ion homeostasis|platelet activation cytosol|integral to membrane|plasma membrane ATP binding|ATP binding|calcium ion binding|calcium-transporting ATPase activity|calcium-transporting ATPase activity|calmodulin binding|calmodulin binding|metal ion binding|PDZ domain binding|protein C-terminus binding ovary(3)|skin(2)|central_nervous_system(1) 6 ATGGACTTGCGCACGGAGTTG 0.577 NA 53 42 0 0 0 0 KBTBD5 131377 broad.mit.edu 37 3 42727527 42727527 + Silent SNP C C T TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 901c2ed5-8348-4dd9-a84c-6c0b18d6525e 10c383d7-07ab-4de5-b6e3-e19dd22e0d47 g.chr3:42727527C>T uc003clv.1 + 1 517 c.417C>T c.(415-417)CTC>CTT p.L139L NM_152393 NP_689606 Q2TBA0 KBTB5_HUMAN kelch repeat and BTB (POZ) domain containing 5 139 BACK. ovary(1) 1 KIRC - Kidney renal clear cell carcinoma(284;0.214) TCTTCCGTCTCGGCCTCCTGC 0.652 NA 52 50 0 0 0 0 IMPG2 50939 broad.mit.edu 37 3 100963144 100963144 + Silent SNP T T C TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 901c2ed5-8348-4dd9-a84c-6c0b18d6525e 10c383d7-07ab-4de5-b6e3-e19dd22e0d47 g.chr3:100963144T>C uc003duq.1 - 13 2234 c.2031A>G c.(2029-2031)CCA>CCG p.P677P IMPG2_uc011bhe.1_Silent_p.P540P NM_016247 NP_057331 Q9BZV3 IMPG2_HUMAN interphotoreceptor matrix proteoglycan 2 677 Extracellular (Potential). visual perception integral to membrane|proteinaceous extracellular matrix extracellular matrix structural constituent|heparin binding|hyaluronic acid binding|receptor activity ovary(2)|haematopoietic_and_lymphoid_tissue(1) 3 GCTCTTCCTCTGGAAAGTGTG 0.443 NA 3 43 0 0 0 0 GRAMD1C 54762 broad.mit.edu 37 3 113634611 113634611 + Missense_Mutation SNP C C T TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 901c2ed5-8348-4dd9-a84c-6c0b18d6525e 10c383d7-07ab-4de5-b6e3-e19dd22e0d47 g.chr3:113634611C>T uc003eaq.3 + 10 1092 c.1016C>T c.(1015-1017)GCT>GTT p.A339V GRAMD1C_uc011bil.1_RNA|GRAMD1C_uc011bim.1_RNA|GRAMD1C_uc003ear.2_Missense_Mutation_p.A172V|GRAMD1C_uc003eas.2_Missense_Mutation_p.A134V|GRAMD1C_uc003eat.2_5'UTR NM_017577 NP_060047 Q8IYS0 GRM1C_HUMAN GRAM domain containing 1C 339 integral to membrane ovary(2)|skin(1) 3 CATATCAGTGCTGACAGAATG 0.338 NA 11 40 0 0 0 0 DRD3 1814 broad.mit.edu 37 3 113866346 113866346 + Missense_Mutation SNP G G A rs141573183 TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 901c2ed5-8348-4dd9-a84c-6c0b18d6525e 10c383d7-07ab-4de5-b6e3-e19dd22e0d47 g.chr3:113866346G>A uc003ebd.2 - 5 865 c.442C>T c.(442-444)CGG>TGG p.R148W DRD3_uc010hqn.1_Missense_Mutation_p.R148W|DRD3_uc003ebb.1_Missense_Mutation_p.R148W|DRD3_uc003ebc.1_Missense_Mutation_p.R148W NM_000796 NP_000787 P35462 DRD3_HUMAN dopamine receptor D3 isoform a 148 Cytoplasmic. activation of adenylate cyclase activity by dopamine receptor signaling pathway|arachidonic acid secretion|behavioral response to cocaine|cellular calcium ion homeostasis|circadian regulation of gene expression|G-protein coupled receptor internalization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|locomotory behavior|musculoskeletal movement, spinal reflex action|negative regulation of blood pressure|negative regulation of oligodendrocyte differentiation|negative regulation of protein kinase B signaling cascade|negative regulation of protein secretion|positive regulation of dopamine receptor signaling pathway|positive regulation of mitosis|prepulse inhibition|regulation of dopamine secretion|response to drug|response to histamine|response to morphine|social behavior|visual learning integral to plasma membrane dopamine D3 receptor activity|drug binding ovary(1)|pancreas(1)|central_nervous_system(1)|skin(1) 4 Apomorphine(DB00714)|Chlorprothixene(DB01239)|Cocaine(DB00907)|Methotrimeprazine(DB01403)|Olanzapine(DB00334)|Pramipexole(DB00413)|Ropinirole(DB00268)|Ziprasidone(DB00246) GCCACGCGCCGACAGGAGCTC 0.562 NA 4 69 0 0 0 0 PCCB 5096 broad.mit.edu 37 3 135969356 135969356 + Silent SNP C C T TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 901c2ed5-8348-4dd9-a84c-6c0b18d6525e 10c383d7-07ab-4de5-b6e3-e19dd22e0d47 g.chr3:135969356C>T uc003eqy.1 + 1 190 c.139C>T c.(139-141)CTG>TTG p.L47L PCCB_uc003eqz.1_Silent_p.L47L|PCCB_uc011bmc.1_Silent_p.L47L NM_000532 NP_000523 P05166 PCCB_HUMAN propionyl Coenzyme A carboxylase, beta 47 Carboxyltransferase. fatty acid beta-oxidation mitochondrial matrix ATP binding|propionyl-CoA carboxylase activity 0 Biotin(DB00121)|L-Valine(DB00161) CCGGACCGCGCTGCTGGGAGG 0.667 NA OREG0015823 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 9 16 0 0 0 0 TRIM42 287015 broad.mit.edu 37 3 140409849 140409849 + Missense_Mutation SNP G G A TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 901c2ed5-8348-4dd9-a84c-6c0b18d6525e 10c383d7-07ab-4de5-b6e3-e19dd22e0d47 g.chr3:140409849G>A uc003eto.1 + 4 2091 c.1900G>A c.(1900-1902)GAG>AAG p.E634K NM_152616 NP_689829 Q8IWZ5 TRI42_HUMAN tripartite motif-containing 42 634 Fibronectin type-III. intracellular zinc ion binding lung(2)|skin(2)|upper_aerodigestive_tract(1)|breast(1)|central_nervous_system(1) 7 GGACTCTTTTGAGATGGAATT 0.418 NA 19 78 0 0 0 0 SLC7A14 57709 broad.mit.edu 37 3 170185021 170185021 + Missense_Mutation SNP T T C TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 901c2ed5-8348-4dd9-a84c-6c0b18d6525e 10c383d7-07ab-4de5-b6e3-e19dd22e0d47 g.chr3:170185021T>C uc003fgz.2 - 8 2454 c.2138A>G c.(2137-2139)GAG>GGG p.E713G CLDN11_uc011bpt.1_Intron|uc003fha.1_5'Flank NM_020949 NP_066000 Q8TBB6 S7A14_HUMAN solute carrier family 7 (cationic amino acid 713 integral to membrane amino acid transmembrane transporter activity ovary(2)|upper_aerodigestive_tract(1)|liver(1)|central_nervous_system(1) 5 all_cancers(22;2.41e-22)|all_epithelial(15;4.2e-27)|all_lung(20;1.17e-16)|Lung NSC(18;4.91e-16)|Ovarian(172;0.000902)|Breast(254;0.137) Lung(28;6.23e-13)|LUSC - Lung squamous cell carcinoma(14;1.48e-12) GCTCTCGCCCTCTGTGGCGTA 0.572 NA 24 48 0 0 0 0 CC2D2A 57545 broad.mit.edu 37 4 15556795 15556795 + Missense_Mutation SNP A A G TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 901c2ed5-8348-4dd9-a84c-6c0b18d6525e 10c383d7-07ab-4de5-b6e3-e19dd22e0d47 g.chr4:15556795A>G uc010idv.2 + 21 2832 c.2587A>G c.(2587-2589)AAT>GAT p.N863D CC2D2A_uc003gnx.2_Missense_Mutation_p.N814D|CC2D2A_uc003gnz.1_RNA|CC2D2A_uc003goa.1_RNA NM_001080522 NP_001073991 Q9P2K1 C2D2A_HUMAN coiled-coil and C2 domain containing 2A isoform 863 cell projection organization cilium|microtubule basal body pancreas(2)|ovary(1) 3 GCTCGACCCAAATGACCCCAA 0.463 NA 10 27 0 0 0 0 LPHN3 23284 broad.mit.edu 37 4 62758534 62758534 + Missense_Mutation SNP C C G TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 901c2ed5-8348-4dd9-a84c-6c0b18d6525e 10c383d7-07ab-4de5-b6e3-e19dd22e0d47 g.chr4:62758534C>G uc010ihh.2 + 7 1610 c.1437C>G c.(1435-1437)GAC>GAG p.D479E LPHN3_uc003hcq.3_Missense_Mutation_p.D479E|LPHN3_uc003hcs.1_Missense_Mutation_p.D308E NM_015236 NP_056051 Q9HAR2 LPHN3_HUMAN latrophilin 3 precursor 479 Extracellular (Potential). neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity|sugar binding lung(15)|ovary(1)|central_nervous_system(1)|pancreas(1) 18 TACTTGATGACATGACCACAC 0.527 NA 9 42 0 0 0 0 SEC31A 22872 broad.mit.edu 37 4 83748592 83748592 + Missense_Mutation SNP C C G TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 901c2ed5-8348-4dd9-a84c-6c0b18d6525e 10c383d7-07ab-4de5-b6e3-e19dd22e0d47 g.chr4:83748592C>G uc003hnf.2 - 24 3385 c.3221G>C c.(3220-3222)GGC>GCC p.G1074A SEC31A_uc003hnd.2_Missense_Mutation_p.G243A|SEC31A_uc003hne.2_Missense_Mutation_p.G823A|SEC31A_uc011ccl.1_Missense_Mutation_p.G1020A|SEC31A_uc003hnl.2_Missense_Mutation_p.G921A|SEC31A_uc003hng.2_Missense_Mutation_p.G1059A|SEC31A_uc003hnh.2_Missense_Mutation_p.G1074A|SEC31A_uc003hni.2_Missense_Mutation_p.G960A|SEC31A_uc003hnj.2_Missense_Mutation_p.G1035A|SEC31A_uc011ccm.1_Missense_Mutation_p.G1054A|SEC31A_uc011ccn.1_Missense_Mutation_p.G1059A|SEC31A_uc003hnk.2_Missense_Mutation_p.G1035A|SEC31A_uc003hnm.2_Missense_Mutation_p.G1074A NM_001077207 NP_001070675 O94979 SC31A_HUMAN SEC31 homolog A isoform 1 1074 Interaction with PDCD6.|Pro-rich. COPII vesicle coating|post-translational protein modification|protein N-linked glycosylation via asparagine|protein transport|response to calcium ion COPII vesicle coat|cytosol|endoplasmic reticulum membrane|perinuclear region of cytoplasm calcium-dependent protein binding SEC31A/JAK2(4)|SEC31A/ALK(3) haematopoietic_and_lymphoid_tissue(4)|soft_tissue(3)|breast(1) 8 Hepatocellular(203;0.114) TGGTGGCATGCCTGTTTGACC 0.502 NA 30 147 0 0 0 0 MMRN1 22915 broad.mit.edu 37 4 90856493 90856493 + Missense_Mutation SNP G G T TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 901c2ed5-8348-4dd9-a84c-6c0b18d6525e 10c383d7-07ab-4de5-b6e3-e19dd22e0d47 g.chr4:90856493G>T uc003hst.2 + 6 1733 c.1662G>T c.(1660-1662)AAG>AAT p.K554N MMRN1_uc010iku.2_Intron|MMRN1_uc011cds.1_Missense_Mutation_p.K296N NM_007351 NP_031377 Q13201 MMRN1_HUMAN multimerin 1 554 cell adhesion|platelet activation|platelet degranulation extracellular region|platelet alpha granule lumen ovary(4) 4 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;6.96e-05) AAAATATAAAGAAGCAGAGTT 0.383 NA 10 59 5.51e-06 6.19e-06 1 0 SGMS2 166929 broad.mit.edu 37 4 108831579 108831579 + Missense_Mutation SNP A A T TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 901c2ed5-8348-4dd9-a84c-6c0b18d6525e 10c383d7-07ab-4de5-b6e3-e19dd22e0d47 g.chr4:108831579A>T uc003hyl.3 + 7 1523 c.968A>T c.(967-969)AAA>ATA p.K323I uc003hym.1_Intron|SGMS2_uc003hyn.2_Missense_Mutation_p.K323I|SGMS2_uc003hyo.2_Missense_Mutation_p.K323I NM_001136258 NP_001129730 Q8NHU3 SMS2_HUMAN sphingomyelin synthase 2 323 Cytoplasmic (Potential). sphingomyelin biosynthetic process integral to Golgi membrane|integral to plasma membrane ceramide cholinephosphotransferase activity|kinase activity|sphingomyelin synthase activity p.K323N(1) lung(1) 1 OV - Ovarian serous cystadenocarcinoma(123;2.95e-05) Choline(DB00122) TTTTTTGAGAAAAATGTACAA 0.398 NA 29 30 0 0 0 0 NDST4 64579 broad.mit.edu 37 4 115998155 115998155 + Missense_Mutation SNP G G T TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 901c2ed5-8348-4dd9-a84c-6c0b18d6525e 10c383d7-07ab-4de5-b6e3-e19dd22e0d47 g.chr4:115998155G>T uc003ibu.2 - 2 717 c.38C>A c.(37-39)ACA>AAA p.T13K NDST4_uc010imw.2_Intron NM_022569 NP_072091 Q9H3R1 NDST4_HUMAN heparan sulfate N-deacetylase/N-sulfotransferase 13 Cytoplasmic (Potential). Golgi membrane|integral to membrane [heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity skin(3)|ovary(1) 4 Ovarian(17;0.156) OV - Ovarian serous cystadenocarcinoma(123;0.000562) AACAATCAATGTTCGAAAACT 0.348 NA 4 20 0.00909568 0.00930835 1 0 PCDH10 57575 broad.mit.edu 37 4 134073285 134073285 + Missense_Mutation SNP G G T TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 901c2ed5-8348-4dd9-a84c-6c0b18d6525e 10c383d7-07ab-4de5-b6e3-e19dd22e0d47 g.chr4:134073285G>T uc003iha.2 + 1 2816 c.1990G>T c.(1990-1992)GGG>TGG p.G664W PCDH10_uc003igz.2_Missense_Mutation_p.G664W NM_032961 NP_116586 Q9P2E7 PCD10_HUMAN protocadherin 10 isoform 1 precursor 664 Cadherin 6.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(2) 2 LUSC - Lung squamous cell carcinoma(193;0.227) GCGCGACCATGGGCAGCCGCC 0.612 NA 5 35 0.000602214 0.000635733 1 0 MAB21L2 10586 broad.mit.edu 37 4 151504953 151504953 + Silent SNP C C A TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 901c2ed5-8348-4dd9-a84c-6c0b18d6525e 10c383d7-07ab-4de5-b6e3-e19dd22e0d47 g.chr4:151504953C>A uc003ilw.2 + 1 1877 c.772C>A c.(772-774)CGG>AGG p.R258R LRBA_uc003ils.3_5'Flank|LRBA_uc003ilt.3_Intron|LRBA_uc003ilu.3_Intron|LRBA_uc010ipj.2_Intron NM_006439 NP_006430 Q9Y586 MB212_HUMAN mab-21-like protein 2 258 nervous system development nucleus ovary(1) 1 all_hematologic(180;0.151) GBM - Glioblastoma multiforme(119;0.159) GAAGACTCTGCGGGACCGCCA 0.627 NA 31 23 2.44e-19 3.24e-19 1 0 GLRB 2743 broad.mit.edu 37 4 158060002 158060002 + Nonsense_Mutation SNP G G T TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 901c2ed5-8348-4dd9-a84c-6c0b18d6525e 10c383d7-07ab-4de5-b6e3-e19dd22e0d47 g.chr4:158060002G>T uc003ipj.2 + 7 854 c.652G>T c.(652-654)GGA>TGA p.G218* NM_000824 NP_000815 P48167 GLRB_HUMAN glycine receptor, beta isoform A precursor 218 Extracellular (Probable). nervous system development|neuropeptide signaling pathway|startle response cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane extracellular-glycine-gated chloride channel activity|protein binding|receptor activity skin(2) 2 all_hematologic(180;0.24) Renal(120;0.0458) KIRC - Kidney renal clear cell carcinoma(143;0.0564)|COAD - Colon adenocarcinoma(41;0.0642)|Kidney(143;0.0707) Glycine(DB00145) CTGGCAGTCAGGAGATCCTGT 0.274 NA 12 70 2.62e-11 3.29e-11 1 0 KLHL2 11275 broad.mit.edu 37 4 166232680 166232680 + Silent SNP T T C TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 901c2ed5-8348-4dd9-a84c-6c0b18d6525e 10c383d7-07ab-4de5-b6e3-e19dd22e0d47 g.chr4:166232680T>C uc003irb.2 + 11 1561 c.1302T>C c.(1300-1302)AAT>AAC p.N434N KLHL2_uc011cjm.1_Silent_p.N438N|KLHL2_uc003irc.2_Silent_p.N346N|KLHL2_uc010ira.2_Silent_p.N87N NM_007246 NP_009177 O95198 KLHL2_HUMAN kelch-like 2, Mayven isoform 1 434 Kelch 3. intracellular protein transport actin cytoskeleton|cytoplasm actin binding|transporter activity 0 all_hematologic(180;0.221) GBM - Glioblastoma multiforme(119;2.94e-27)|COAD - Colon adenocarcinoma(41;1.4e-05)|Kidney(143;4.95e-05)|KIRC - Kidney renal clear cell carcinoma(143;0.000927) CTCCCATGAATACAAGGAGGA 0.418 NA 29 155 0 0 0 0 SEMA5A 9037 broad.mit.edu 37 5 9136622 9136622 + Silent SNP C C A TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 901c2ed5-8348-4dd9-a84c-6c0b18d6525e 10c383d7-07ab-4de5-b6e3-e19dd22e0d47 g.chr5:9136622C>A uc003jek.2 - 13 2305 c.1593G>T c.(1591-1593)GCG>GCT p.A531A NM_003966 NP_003957 Q13591 SEM5A_HUMAN semaphorin 5A precursor 531 Extracellular (Potential). cell adhesion|cell-cell signaling integral to membrane|plasma membrane ovary(1)|central_nervous_system(1) 2 TCACCGGACACGCAGAGATGC 0.587 NA 4 27 0.00024832 0.000266091 1 0 SEMA5A 9037 broad.mit.edu 37 5 9190523 9190523 + Missense_Mutation SNP G G C rs147170997 TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 901c2ed5-8348-4dd9-a84c-6c0b18d6525e 10c383d7-07ab-4de5-b6e3-e19dd22e0d47 g.chr5:9190523G>C uc003jek.2 - 11 1841 c.1129C>G c.(1129-1131)CAG>GAG p.Q377E NM_003966 NP_003957 Q13591 SEM5A_HUMAN semaphorin 5A precursor 377 Sema.|Extracellular (Potential). cell adhesion|cell-cell signaling integral to membrane|plasma membrane ovary(1)|central_nervous_system(1) 2 ATGAACTTCTGAGCATCCTGC 0.577 NA 23 33 0 0 0 0 HTR1A 3350 broad.mit.edu 37 5 63256581 63256581 + Silent SNP C C T TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 901c2ed5-8348-4dd9-a84c-6c0b18d6525e 10c383d7-07ab-4de5-b6e3-e19dd22e0d47 g.chr5:63256581C>T uc011cqt.1 - 1 966 c.966G>A c.(964-966)GAG>GAA p.E322E NM_000524 NP_000515 P08908 5HT1A_HUMAN 5-hydroxytryptamine (serotonin) receptor 1A 322 Cytoplasmic (By similarity). behavior|positive regulation of cell proliferation integral to plasma membrane serotonin receptor activity ovary(2)|pancreas(2) 4 Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0575)|Colorectal(97;0.234) Lung(70;0.105) Alprenolol(DB00866)|Aripiprazole(DB01238)|Buspirone(DB00490)|Clozapine(DB00363)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Fluvoxamine(DB00176)|Lisuride(DB00589)|Methysergide(DB00247)|Mirtazapine(DB00370)|Pindolol(DB00960)|Propranolol(DB00571)|Quetiapine(DB01224)|Sertraline(DB01104)|Tegaserod(DB01079)|Trazodone(DB00656)|Venlafaxine(DB00285)|Ziprasidone(DB00246) CATTTTTCCTCTCGAAAGAGG 0.617 NA 7 55 0 0 0 0 IQGAP2 10788 broad.mit.edu 37 5 75954373 75954373 + Missense_Mutation SNP G G T TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 901c2ed5-8348-4dd9-a84c-6c0b18d6525e 10c383d7-07ab-4de5-b6e3-e19dd22e0d47 g.chr5:75954373G>T uc003kek.2 + 21 2632 c.2410G>T c.(2410-2412)GTT>TTT p.V804F IQGAP2_uc010izv.2_Missense_Mutation_p.V357F|IQGAP2_uc011csv.1_Missense_Mutation_p.V300F|IQGAP2_uc003kel.2_Missense_Mutation_p.V300F NM_006633 NP_006624 Q13576 IQGA2_HUMAN IQ motif containing GTPase activating protein 2 804 small GTPase mediated signal transduction actin cytoskeleton actin binding|calmodulin binding|GTPase inhibitor activity|Ras GTPase activator activity ovary(6)|central_nervous_system(1) 7 all_lung(232;0.000514)|Lung NSC(167;0.00135)|Prostate(461;0.00838)|Ovarian(174;0.0149) all cancers(79;1.38e-36) GGAACTAGAGGTTGCACGATT 0.448 NA 37 45 2.19e-23 2.98e-23 1 0 TMEM167A 153339 broad.mit.edu 37 5 82357723 82357723 + Missense_Mutation SNP C C T TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 901c2ed5-8348-4dd9-a84c-6c0b18d6525e 10c383d7-07ab-4de5-b6e3-e19dd22e0d47 g.chr5:82357723C>T uc003khx.3 - 3 251 c.121G>A c.(121-123)GGT>AGT p.G41S NM_174909 NP_777569 Q8TBQ9 KISHA_HUMAN transmembrane protein 167A precursor 41 Extracellular (Potential). Golgi membrane|integral to membrane 0 CAAAATATACCCAACAATCTG 0.303 NA 9 40 0 0 0 0 BRD8 10902 broad.mit.edu 37 5 137476488 137476488 + Missense_Mutation SNP A A G TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 901c2ed5-8348-4dd9-a84c-6c0b18d6525e 10c383d7-07ab-4de5-b6e3-e19dd22e0d47 g.chr5:137476488A>G uc003lcf.1 - 26 3576 c.3521T>C c.(3520-3522)CTG>CCG p.L1174P BRD8_uc003lcc.1_Intron|NME5_uc003lce.2_5'Flank NM_139199 NP_631938 Q9H0E9 BRD8_HUMAN bromodomain containing 8 isoform 2 1174 Bromo 2. cell surface receptor linked signaling pathway|histone H2A acetylation|histone H4 acetylation|regulation of growth|regulation of transcription from RNA polymerase II promoter mitochondrion|NuA4 histone acetyltransferase complex sequence-specific DNA binding transcription factor activity|thyroid hormone receptor activity ovary(1) 1 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109) TTGGAACATCAGCATCAGGTC 0.483 NA 60 255 0 0 0 0 PCDHA8 56140 broad.mit.edu 37 5 140223207 140223207 + Silent SNP G G C TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 901c2ed5-8348-4dd9-a84c-6c0b18d6525e 10c383d7-07ab-4de5-b6e3-e19dd22e0d47 g.chr5:140223207G>C uc003lhs.2 + 1 2301 c.2301G>C c.(2299-2301)ACG>ACC p.T767T PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhr.1_Silent_p.T767T NM_018911 NP_061734 Q9Y5H6 PCDA8_HUMAN protocadherin alpha 8 isoform 1 precursor 767 Cytoplasmic (Potential). homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding|protein binding upper_aerodigestive_tract(1)|ovary(1) 2 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CACCGAAGACGGACCTCATGG 0.572 NA 12 33 0 0 0 0 PCDHB12 56124 broad.mit.edu 37 5 140588692 140588692 + Missense_Mutation SNP C C A rs145009914 TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 901c2ed5-8348-4dd9-a84c-6c0b18d6525e 10c383d7-07ab-4de5-b6e3-e19dd22e0d47 g.chr5:140588692C>A uc003liz.2 + 1 402 c.213C>A c.(211-213)AAC>AAA p.N71K PCDHB12_uc011dak.1_Intron NM_018932 NP_061755 Q9Y5F1 PCDBC_HUMAN protocadherin beta 12 precursor 71 Extracellular (Potential).|Cadherin 1. homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding skin(2)|ovary(1) 3 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) CTAATGATAACAAAGAGTGTT 0.522 NA 31 62 2.08e-15 2.72e-15 1 0 WWC1 23286 broad.mit.edu 37 5 167855056 167855056 + Missense_Mutation SNP G G T TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 901c2ed5-8348-4dd9-a84c-6c0b18d6525e 10c383d7-07ab-4de5-b6e3-e19dd22e0d47 g.chr5:167855056G>T uc003lzu.2 + 12 1922 c.1829G>T c.(1828-1830)GGG>GTG p.G610V WWC1_uc003lzv.2_Missense_Mutation_p.G610V|WWC1_uc011den.1_Missense_Mutation_p.G610V|WWC1_uc003lzw.2_Missense_Mutation_p.G409V NM_015238 NP_056053 Q8IX03 KIBRA_HUMAN WW and C2 domain containing 1 isoform 3 610 cell migration|positive regulation of MAPKKK cascade|regulation of hippo signaling cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus|perinuclear region of cytoplasm|ruffle membrane protein binding|transcription coactivator activity ovary(2)|skin(2)|breast(1) 5 Renal(175;0.000212)|Lung NSC(126;0.0875)|all_lung(126;0.166) Medulloblastoma(196;0.0399)|all_neural(177;0.0577) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) all cancers(165;0.0364)|Epithelial(171;0.0765)|OV - Ovarian serous cystadenocarcinoma(192;0.0918) ACGGCCCAGGGGTGTGGCCTG 0.512 NA 15 31 6.32e-08 7.49e-08 1 0 SLIT3 6586 broad.mit.edu 37 5 168135107 168135107 + Splice_Site SNP T T G TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 901c2ed5-8348-4dd9-a84c-6c0b18d6525e 10c383d7-07ab-4de5-b6e3-e19dd22e0d47 g.chr5:168135107T>G uc003mab.2 - 26 3140 c.2720_splice c.e26-1 p.G907_splice SLIT3_uc010jjg.2_Silent_p.P913P NM_003062 NP_003053 O75094 SLIT3_HUMAN slit homolog 3 precursor apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus|Roundabout signaling pathway extracellular space|mitochondrion calcium ion binding|Roundabout binding ovary(3)|skin(1) 4 Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392) Medulloblastoma(196;0.0399)|all_neural(177;0.0966) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) CCACTGGCCCTGGGCAGCAAA 0.612 NA 5 41 0 0 0 0 CCDC99 54908 broad.mit.edu 37 5 169015579 169015579 + Missense_Mutation SNP G G C TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 901c2ed5-8348-4dd9-a84c-6c0b18d6525e 10c383d7-07ab-4de5-b6e3-e19dd22e0d47 g.chr5:169015579G>C uc003mae.3 + 2 438 c.159G>C c.(157-159)GAG>GAC p.E53D CCDC99_uc010jjj.2_Intron|CCDC99_uc011deq.1_5'UTR|CCDC99_uc010jjk.2_5'UTR NM_017785 NP_060255 Q96EA4 SPDLY_HUMAN coiled-coil domain containing 99 53 Potential. cell division|establishment of mitotic spindle orientation|mitotic metaphase plate congression|mitotic prometaphase|protein localization to kinetochore condensed chromosome outer kinetochore|cytosol|microtubule organizing center|nucleus|spindle pole kinetochore binding|protein binding ovary(1)|liver(1) 2 Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337) Medulloblastoma(196;0.0208)|all_neural(177;0.0416) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) CCATGACTGAGGTAGGACTCT 0.363 NA 9 38 0 0 0 0 CDHR2 54825 broad.mit.edu 37 5 176005489 176005489 + Silent SNP G G A TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 901c2ed5-8348-4dd9-a84c-6c0b18d6525e 10c383d7-07ab-4de5-b6e3-e19dd22e0d47 g.chr5:176005489G>A uc003mem.1 + 16 1764 c.1698G>A c.(1696-1698)CTG>CTA p.L566L CDHR2_uc003men.1_Silent_p.L566L NM_017675 NP_060145 Q9BYE9 CDHR2_HUMAN protocadherin LKC precursor 566 Extracellular (Potential).|Cadherin 5. homophilic cell adhesion|negative regulation of cell growth apical plasma membrane|cell junction|integral to membrane calcium ion binding|protein binding ovary(2) 2 GCGGGAACCTGTCCTCCTCCA 0.627 NA 4 23 0 0 0 0 NSD1 64324 broad.mit.edu 37 5 176637776 176637776 + Nonsense_Mutation SNP C C A TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 901c2ed5-8348-4dd9-a84c-6c0b18d6525e 10c383d7-07ab-4de5-b6e3-e19dd22e0d47 g.chr5:176637776C>A uc003mfr.3 + 5 2514 c.2376C>A c.(2374-2376)TGC>TGA p.C792* NSD1_uc003mft.3_Nonsense_Mutation_p.C523*|NSD1_uc003mfs.1_Nonsense_Mutation_p.C689*|NSD1_uc011dfx.1_Nonsense_Mutation_p.C440* NM_022455 NP_071900 Q96L73 NSD1_HUMAN nuclear receptor binding SET domain protein 1 792 negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nucleus androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding ovary(2)|kidney(1) 3 all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002) all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198) Kidney(146;0.235) GTATAAAGTGCAAACACAAAG 0.428 NA T NUP98 AML Sotos Syndrome Beckwith-Wiedemann_syndrome|Sotos_syndrome|Weaver_syndrome HNSCC(47;0.14) 11 38 0.000673444 0.000708299 1 0 NSD1 64324 broad.mit.edu 37 5 176684042 176684042 + Missense_Mutation SNP G G C TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 901c2ed5-8348-4dd9-a84c-6c0b18d6525e 10c383d7-07ab-4de5-b6e3-e19dd22e0d47 g.chr5:176684042G>C uc003mfr.3 + 13 4994 c.4856G>C c.(4855-4857)TGT>TCT p.C1619S NSD1_uc003mft.3_Missense_Mutation_p.C1350S|NSD1_uc003mfs.1_Missense_Mutation_p.C1516S|NSD1_uc011dfx.1_Missense_Mutation_p.C1267S NM_022455 NP_071900 Q96L73 NSD1_HUMAN nuclear receptor binding SET domain protein 1 1619 PHD-type 2. negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nucleus androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding ovary(2)|kidney(1) 3 all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002) all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198) Kidney(146;0.235) CATGAAGAGTGTGTCCAGAAG 0.468 NA T NUP98 AML Sotos Syndrome Beckwith-Wiedemann_syndrome|Sotos_syndrome|Weaver_syndrome HNSCC(47;0.14) 39 50 0 0 0 0 NSD1 64324 broad.mit.edu 37 5 176721512 176721512 + Silent SNP C C A TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 901c2ed5-8348-4dd9-a84c-6c0b18d6525e 10c383d7-07ab-4de5-b6e3-e19dd22e0d47 g.chr5:176721512C>A uc003mfr.3 + 23 7281 c.7143C>A c.(7141-7143)CCC>CCA p.P2381P NSD1_uc003mft.3_Silent_p.P2112P|NSD1_uc011dfx.1_Silent_p.P2029P NM_022455 NP_071900 Q96L73 NSD1_HUMAN nuclear receptor binding SET domain protein 1 2381 Pro-rich. negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nucleus androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding ovary(2)|kidney(1) 3 all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002) all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198) Kidney(146;0.235) CCTCAGTTCCCACTGGCCTGA 0.562 NA T NUP98 AML Sotos Syndrome Beckwith-Wiedemann_syndrome|Sotos_syndrome|Weaver_syndrome HNSCC(47;0.14) 16 63 2.32e-05 2.57e-05 1 0 NCR2 9436 broad.mit.edu 37 6 41318574 41318574 + Missense_Mutation SNP G G C TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 901c2ed5-8348-4dd9-a84c-6c0b18d6525e 10c383d7-07ab-4de5-b6e3-e19dd22e0d47 g.chr6:41318574G>C uc003oqh.2 + 5 890 c.803G>C c.(802-804)AGC>ACC p.S268T NCR2_uc003oqi.2_3'UTR|NCR2_uc003oqj.2_3'UTR NM_004828 NP_004819 O95944 NCTR2_HUMAN natural cytotoxicity triggering receptor 2 268 Cytoplasmic (Potential). cellular defense response integral to plasma membrane transmembrane receptor activity ovary(1) 1 Ovarian(28;0.0327)|Colorectal(47;0.196) actaagataagcgatgatgat 0.129 NA 16 34 0 0 0 0 COL19A1 1310 broad.mit.edu 37 6 70778326 70778326 + Silent SNP G G T TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 901c2ed5-8348-4dd9-a84c-6c0b18d6525e 10c383d7-07ab-4de5-b6e3-e19dd22e0d47 g.chr6:70778326G>T uc003pfc.1 + 15 1299 c.1182G>T c.(1180-1182)GGG>GGT p.G394G COL19A1_uc010kam.1_Silent_p.G290G NM_001858 NP_001849 Q14993 COJA1_HUMAN alpha 1 type XIX collagen precursor 394 Triple-helical region 2 (COL2). cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development collagen extracellular matrix structural constituent|protein binding, bridging ovary(2)|breast(2) 4 GTTCCCTGGGGATACAAGGCC 0.418 NA 13 38 1.68e-08 2.01e-08 1 0 SLC35F1 222553 broad.mit.edu 37 6 118556735 118556735 + Missense_Mutation SNP T T C TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 901c2ed5-8348-4dd9-a84c-6c0b18d6525e 10c383d7-07ab-4de5-b6e3-e19dd22e0d47 g.chr6:118556735T>C uc003pxx.3 + 3 614 c.413T>C c.(412-414)ATA>ACA p.I138T NM_001029858 NP_001025029 Q5T1Q4 S35F1_HUMAN solute carrier family 35, member F1 138 Helical; (Potential). transport integral to membrane breast(1) 1 GBM - Glioblastoma multiforme(226;0.217) TTGGGACTCATAGACCTGGAA 0.433 NA 23 46 0 0 0 0 FAM184A 79632 broad.mit.edu 37 6 119341265 119341265 + Nonsense_Mutation SNP C C A TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 901c2ed5-8348-4dd9-a84c-6c0b18d6525e 10c383d7-07ab-4de5-b6e3-e19dd22e0d47 g.chr6:119341265C>A uc003pyj.2 - 4 1558 c.1210G>T c.(1210-1212)GAA>TAA p.E404* FAM184A_uc003pyk.3_Nonsense_Mutation_p.E284*|FAM184A_uc003pyl.3_Nonsense_Mutation_p.E284* NM_024581 NP_078857 Q8NB25 F184A_HUMAN hypothetical protein LOC79632 isoform 1 404 Potential. ovary(2)|central_nervous_system(2)|skin(2)|pancreas(1) 7 TTTTCTGATTCTAAATCTTTA 0.363 NA 13 35 9.05e-12 1.15e-11 1 0 LAMA2 3908 broad.mit.edu 37 6 129674405 129674405 + Missense_Mutation SNP C C G TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 901c2ed5-8348-4dd9-a84c-6c0b18d6525e 10c383d7-07ab-4de5-b6e3-e19dd22e0d47 g.chr6:129674405C>G uc003qbn.2 + 32 4725 c.4620C>G c.(4618-4620)GAC>GAG p.D1540E LAMA2_uc003qbo.2_Missense_Mutation_p.D1540E NM_000426 NP_000417 P24043 LAMA2_HUMAN laminin alpha 2 subunit isoform a precursor 1540 Laminin EGF-like 17. cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development laminin-1 complex receptor binding|structural molecule activity ovary(8)|breast(1)|skin(1) 10 OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245) TGCCCTGTGACCCTGTCACAG 0.602 NA 23 50 0 0 0 0 LAMA2 3908 broad.mit.edu 37 6 129714275 129714275 + Nonsense_Mutation SNP G G T TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 901c2ed5-8348-4dd9-a84c-6c0b18d6525e 10c383d7-07ab-4de5-b6e3-e19dd22e0d47 g.chr6:129714275G>T uc003qbn.2 + 37 5425 c.5320G>T c.(5320-5322)GAA>TAA p.E1774* LAMA2_uc003qbo.2_Nonsense_Mutation_p.E1774* NM_000426 NP_000417 P24043 LAMA2_HUMAN laminin alpha 2 subunit isoform a precursor 1774 Domain II and I.|Potential. cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development laminin-1 complex receptor binding|structural molecule activity ovary(8)|breast(1)|skin(1) 10 OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245) GGATCTCCGGGAAAAACTGGC 0.448 NA 17 47 4.75e-09 5.76e-09 1 0 ENPP3 5169 broad.mit.edu 37 6 132039838 132039838 + Missense_Mutation SNP G G A TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 901c2ed5-8348-4dd9-a84c-6c0b18d6525e 10c383d7-07ab-4de5-b6e3-e19dd22e0d47 g.chr6:132039838G>A uc003qcu.3 + 17 1786 c.1439G>A c.(1438-1440)GGA>GAA p.G480E ENPP3_uc010kfq.2_RNA|ENPP3_uc003qcv.2_Missense_Mutation_p.G480E NM_005021 NP_005012 O14638 ENPP3_HUMAN ectonucleotide pyrophosphatase/phosphodiesterase 480 Extracellular (Potential).|Phosphodiesterase. immune response|nucleoside triphosphate catabolic process|phosphate metabolic process extracellular region|integral to plasma membrane|perinuclear region of cytoplasm metal ion binding|nucleic acid binding|nucleoside-triphosphate diphosphatase activity|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|scavenger receptor activity ovary(3)|skin(1) 4 Breast(56;0.0753) GBM - Glioblastoma multiforme(226;0.0252)|OV - Ovarian serous cystadenocarcinoma(155;0.0511) AATTGTGGAGGAGGCAACCAT 0.234 NA 25 67 0 0 0 0 SYNE1 23345 broad.mit.edu 37 6 152665276 152665276 + Silent SNP G G T TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 901c2ed5-8348-4dd9-a84c-6c0b18d6525e 10c383d7-07ab-4de5-b6e3-e19dd22e0d47 g.chr6:152665276G>T uc010kiw.2 - 74 12767 c.12165C>A c.(12163-12165)GTC>GTA p.V4055V SYNE1_uc003qot.3_Silent_p.V3984V|SYNE1_uc003qou.3_Silent_p.V4055V|SYNE1_uc010kja.1_Silent_p.V760V NM_182961 NP_892006 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 4055 Cytoplasmic (Potential). cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex actin binding|lamin binding central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2) 45 Ovarian(120;0.0955) BRCA - Breast invasive adenocarcinoma(37;0.243) OV - Ovarian serous cystadenocarcinoma(155;2.24e-10) AATCCGGCTGGACTGCAGAAA 0.478 NA HNSCC(10;0.0054) 42 39 3.62e-18 4.79e-18 1 0 SDK1 221935 broad.mit.edu 37 7 4188976 4188976 + Silent SNP C C T TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 901c2ed5-8348-4dd9-a84c-6c0b18d6525e 10c383d7-07ab-4de5-b6e3-e19dd22e0d47 g.chr7:4188976C>T uc003smx.2 + 30 4645 c.4506C>T c.(4504-4506)GGC>GGT p.G1502G SDK1_uc010kso.2_Silent_p.G778G|SDK1_uc003smy.2_5'UTR NM_152744 NP_689957 Q7Z5N4 SDK1_HUMAN sidekick 1 precursor 1502 Fibronectin type-III 9. cell adhesion integral to membrane large_intestine(3)|ovary(2)|skin(1) 6 all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194) UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15) GGGTCCCGGGCAGCGACGGGG 0.677 NA 10 22 0 0 0 0 ABCA13 154664 broad.mit.edu 37 7 48312325 48312325 + Missense_Mutation SNP T T A TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 901c2ed5-8348-4dd9-a84c-6c0b18d6525e 10c383d7-07ab-4de5-b6e3-e19dd22e0d47 g.chr7:48312325T>A uc003toq.2 + 17 3087 c.3062T>A c.(3061-3063)CTT>CAT p.L1021H ABCA13_uc010kyr.2_Missense_Mutation_p.L524H NM_152701 NP_689914 Q86UQ4 ABCAD_HUMAN ATP binding cassette, sub-family A (ABC1), 1021 transport integral to membrane ATP binding|ATPase activity ovary(5)|central_nervous_system(4)|skin(1) 10 GCAGAGGTTCTTGGGGGAATT 0.338 NA 8 13 0 0 0 0 PCLO 27445 broad.mit.edu 37 7 82582945 82582945 + Nonsense_Mutation SNP T T A TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 901c2ed5-8348-4dd9-a84c-6c0b18d6525e 10c383d7-07ab-4de5-b6e3-e19dd22e0d47 g.chr7:82582945T>A uc003uhx.2 - 5 7613 c.7324A>T c.(7324-7326)AAG>TAG p.K2442* PCLO_uc003uhv.2_Nonsense_Mutation_p.K2442*|PCLO_uc010lec.2_5'Flank NM_033026 NP_149015 Q9Y6V0 PCLO_HUMAN piccolo isoform 1 2373 Pro-rich. cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity ovary(7) 7 ACTGTTAACTTTTTTTTAGGA 0.274 NA 3 12 0 0 0 0 GRM3 2913 broad.mit.edu 37 7 86479718 86479718 + Silent SNP C C T TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 901c2ed5-8348-4dd9-a84c-6c0b18d6525e 10c383d7-07ab-4de5-b6e3-e19dd22e0d47 g.chr7:86479718C>T uc003uid.2 + 5 3523 c.2424C>T c.(2422-2424)AGC>AGT p.S808S GRM3_uc010lef.2_Missense_Mutation_p.P451S|GRM3_uc010leg.2_Silent_p.S680S|GRM3_uc010leh.2_Silent_p.S400S NM_000840 NP_000831 Q14832 GRM3_HUMAN glutamate receptor, metabotropic 3 precursor 808 Helical; Name=7; (Potential). synaptic transmission integral to plasma membrane lung(4)|ovary(3)|central_nervous_system(2)|skin(2)|haematopoietic_and_lymphoid_tissue(1)|prostate(1) 13 Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142) Acamprosate(DB00659)|Nicotine(DB00184) TCTCTGTCAGCCTGAGTGGCT 0.488 NA 17 30 0 0 0 0 TRRAP 8295 broad.mit.edu 37 7 98609784 98609784 + Missense_Mutation SNP G G T TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 901c2ed5-8348-4dd9-a84c-6c0b18d6525e 10c383d7-07ab-4de5-b6e3-e19dd22e0d47 g.chr7:98609784G>T uc003upp.2 + 72 11595 c.11386G>T c.(11386-11388)GCC>TCC p.A3796S TRRAP_uc011kis.1_Missense_Mutation_p.A3767S|TRRAP_uc003upr.2_Missense_Mutation_p.A3502S|TRRAP_uc003ups.2_5'Flank NM_003496 NP_003487 Q9Y4A5 TRRAP_HUMAN transformation/transcription domain-associated 3796 PI3K/PI4K. histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity ovary(9)|large_intestine(8)|central_nervous_system(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(1)|lung(1)|liver(1) 37 all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274) STAD - Stomach adenocarcinoma(171;0.215) TCTCTCGGCCGCCGGGCAGCC 0.582 NA 16 23 2e-07 2.35e-07 1 0 GAL3ST4 79690 broad.mit.edu 37 7 99757693 99757693 + Missense_Mutation SNP C C A TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 901c2ed5-8348-4dd9-a84c-6c0b18d6525e 10c383d7-07ab-4de5-b6e3-e19dd22e0d47 g.chr7:99757693C>A uc003utt.2 - 3 2336 c.1319G>T c.(1318-1320)CGG>CTG p.R440L C7orf43_uc010lgp.2_5'Flank|C7orf43_uc011kjj.1_5'Flank|C7orf43_uc003utr.2_5'Flank|C7orf43_uc003uts.2_5'Flank|GAL3ST4_uc003utu.2_Missense_Mutation_p.R440L|GAL3ST4_uc010lgq.2_Missense_Mutation_p.R378L NM_024637 NP_078913 Q96RP7 G3ST4_HUMAN galactose-3-O-sulfotransferase 4 440 Lumenal (Potential). cell-cell signaling|oligosaccharide metabolic process|proteoglycan biosynthetic process|sulfur compound metabolic process Golgi cisterna membrane|integral to membrane|membrane fraction 3'-phosphoadenosine 5'-phosphosulfate binding|galactosylceramide sulfotransferase activity|proteoglycan sulfotransferase activity ovary(3) 3 Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439) CAATCCACTCCGAAGTATATA 0.557 NA 14 67 1.05e-09 1.3e-09 1 0 FBXL13 222235 broad.mit.edu 37 7 102604000 102604000 + Missense_Mutation SNP G G T TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 901c2ed5-8348-4dd9-a84c-6c0b18d6525e 10c383d7-07ab-4de5-b6e3-e19dd22e0d47 g.chr7:102604000G>T uc003vaq.2 - 8 1131 c.704C>A c.(703-705)CCC>CAC p.P235H FBXL13_uc010liq.1_Missense_Mutation_p.P50H|FBXL13_uc010lir.1_Missense_Mutation_p.P235H|FBXL13_uc003var.2_RNA|FBXL13_uc003vas.2_Missense_Mutation_p.P235H|FBXL13_uc003vav.2_RNA NM_145032 NP_659469 Q8NEE6 FXL13_HUMAN F-box and leucine-rich repeat protein 13 isoform 235 LRR 1. 0 GAAAGTTTTGGGTCGGAGAAG 0.328 NA 20 55 3.62e-10 4.5e-10 1 0 DOCK4 9732 broad.mit.edu 37 7 111379256 111379256 + Silent SNP G G A TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 901c2ed5-8348-4dd9-a84c-6c0b18d6525e 10c383d7-07ab-4de5-b6e3-e19dd22e0d47 g.chr7:111379256G>A uc003vfx.2 - 48 5408 c.5139C>T c.(5137-5139)AAC>AAT p.N1713N DOCK4_uc011kml.1_Silent_p.N594N|DOCK4_uc011kmm.1_Silent_p.N620N|DOCK4_uc003vfw.2_Silent_p.N1163N|DOCK4_uc003vfy.2_Silent_p.N1758N|DOCK4_uc003vfv.2_Silent_p.N26N NM_014705 NP_055520 Q8N1I0 DOCK4_HUMAN dedicator of cytokinesis 4 1713 Ser-rich. cell chemotaxis cytosol|endomembrane system|membrane|stereocilium GTP binding|guanyl-nucleotide exchange factor activity|PDZ domain binding|Rac GTPase activator activity|Rac GTPase binding|receptor tyrosine kinase binding|SH3 domain binding ovary(2)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1) 4 Acute lymphoblastic leukemia(1;0.0441) ACAGGCAAGAGTTTTCTCGGG 0.483 NA 15 85 0 0 0 0 CHRM2 1129 broad.mit.edu 37 7 136700500 136700500 + Missense_Mutation SNP G G C TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 901c2ed5-8348-4dd9-a84c-6c0b18d6525e 10c383d7-07ab-4de5-b6e3-e19dd22e0d47 g.chr7:136700500G>C uc003vtf.1 + 4 1511 c.888G>C c.(886-888)ATG>ATC p.M296I CHRM2_uc003vtg.1_Missense_Mutation_p.M296I|CHRM2_uc003vtj.1_Missense_Mutation_p.M296I|CHRM2_uc003vtk.1_Missense_Mutation_p.M296I|CHRM2_uc003vtl.1_Missense_Mutation_p.M296I|CHRM2_uc003vtm.1_Missense_Mutation_p.M296I|CHRM2_uc003vti.1_Missense_Mutation_p.M296I|CHRM2_uc003vto.1_Missense_Mutation_p.M296I|CHRM2_uc003vtn.1_Missense_Mutation_p.M296I|uc003vtp.1_Intron NM_001006630 NP_001006631 P08172 ACM2_HUMAN cholinergic receptor, muscarinic 2 296 Cytoplasmic (By similarity). activation of phospholipase C activity by muscarinic acetylcholine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|nervous system development|regulation of heart contraction|response to virus cell junction|integral to plasma membrane|postsynaptic membrane muscarinic acetylcholine receptor activity|protein binding ovary(4)|central_nervous_system(1) 5 Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Carbachol(DB00411)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Desipramine(DB01151)|Diphenidol(DB01231)|Doxacurium(DB01334)|Doxacurium chloride(DB01135)|Flavoxate(DB01148)|Gallamine Triethiodide(DB00483)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Ipratropium(DB00332)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Metocurine(DB01336)|Mivacurium(DB01226)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pilocarpine(DB01085)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Rocuronium(DB00728)|Thiethylperazine(DB00372)|Tolterodine(DB01036)|Tridihexethyl(DB00505)|Triflupromazine(DB00508) CCTCTAATATGAGAGATGATG 0.478 NA 9 67 0 0 0 0 TMEM213 155006 broad.mit.edu 37 7 138487681 138487681 + Missense_Mutation SNP G G A TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 901c2ed5-8348-4dd9-a84c-6c0b18d6525e 10c383d7-07ab-4de5-b6e3-e19dd22e0d47 g.chr7:138487681G>A uc010lna.2 + 3 302 c.191G>A c.(190-192)CGC>CAC p.R64H TMEM213_uc010lnb.2_Missense_Mutation_p.R63H NM_001085429 NP_001078898 A2RRL7 TM213_HUMAN transmembrane protein 213 64 Extracellular (Potential). integral to membrane 0 CGGTGCTGCCGCACAGGAGTG 0.627 NA 19 36 0 0 0 0 ZNF398 57541 broad.mit.edu 37 7 148851047 148851047 + Missense_Mutation SNP G G T TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 901c2ed5-8348-4dd9-a84c-6c0b18d6525e 10c383d7-07ab-4de5-b6e3-e19dd22e0d47 g.chr7:148851047G>T uc003wfl.2 + 2 310 c.35G>T c.(34-36)TGG>TTG p.W12L ZNF398_uc011kul.1_5'UTR|ZNF398_uc011kum.1_Missense_Mutation_p.W17L NM_170686 NP_733787 Q8TD17 ZN398_HUMAN zinc finger 398 isoform a 12 positive regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 Melanoma(164;0.15) OV - Ovarian serous cystadenocarcinoma(82;0.00143) ACATCTGAATGGGACTCCGAG 0.493 NA 21 88 2.98e-07 3.49e-07 1 0 ZNF862 643641 broad.mit.edu 37 7 149545456 149545456 + Missense_Mutation SNP G G A TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 901c2ed5-8348-4dd9-a84c-6c0b18d6525e 10c383d7-07ab-4de5-b6e3-e19dd22e0d47 g.chr7:149545456G>A uc010lpn.2 + 4 1066 c.874G>A c.(874-876)GAT>AAT p.D292N ZNF862_uc003wgm.2_RNA NM_001099220 NP_001092690 O60290 ZN862_HUMAN zinc finger protein 862 292 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding|nucleic acid binding|protein dimerization activity skin(1) 1 AGAAATCACTGATGGCATCCA 0.403 NA 3 14 0 0 0 0 USP17L2 377630 broad.mit.edu 37 8 11994697 11994697 + Missense_Mutation SNP C C A TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 901c2ed5-8348-4dd9-a84c-6c0b18d6525e 10c383d7-07ab-4de5-b6e3-e19dd22e0d47 g.chr8:11994697C>A uc003wvc.1 - 1 1573 c.1573G>T c.(1573-1575)GCT>TCT p.A525S FAM66D_uc011kxp.1_Intron|FAM66D_uc011kxo.1_Intron NM_201402 NP_958804 Q6R6M4 U17L2_HUMAN deubiquitinating enzyme 3 525 apoptosis|cell cycle|G2/M transition checkpoint|mitotic cell cycle G1/S transition checkpoint|protein deubiquitination|ubiquitin-dependent protein catabolic process nucleus ubiquitin thiolesterase activity|ubiquitin-specific protease activity skin(2)|upper_aerodigestive_tract(1) 3 ACAAGCAGAGCCCTCTTGCTG 0.448 NA 12 42 1.05e-09 1.3e-09 1 0 ANK1 286 broad.mit.edu 37 8 41572572 41572572 + Silent SNP G G A TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 901c2ed5-8348-4dd9-a84c-6c0b18d6525e 10c383d7-07ab-4de5-b6e3-e19dd22e0d47 g.chr8:41572572G>A uc003xok.2 - 15 1707 c.1623C>T c.(1621-1623)CAC>CAT p.H541H NKX6-3_uc010lxa.1_Intron|ANK1_uc003xoi.2_Silent_p.H541H|ANK1_uc003xoj.2_Silent_p.H541H|ANK1_uc003xol.2_Silent_p.H541H|ANK1_uc003xom.2_Silent_p.H574H NM_020476 NP_065209 P16157 ANK1_HUMAN ankyrin 1 isoform 1 541 89 kDa domain.|ANK 16. axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton ovary(3)|central_nervous_system(3)|lung(2)|breast(1) 9 Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211) all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188) OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264) TGGCCGCCACGTGCAGAGGGG 0.627 NA 24 67 0 0 0 0 DCAF4L2 138009 broad.mit.edu 37 8 88886180 88886180 + Missense_Mutation SNP C C G TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 901c2ed5-8348-4dd9-a84c-6c0b18d6525e 10c383d7-07ab-4de5-b6e3-e19dd22e0d47 g.chr8:88886180C>G uc003ydz.2 - 1 117 c.20G>C c.(19-21)CGA>CCA p.R7P NM_152418 NP_689631 Q8NA75 DC4L2_HUMAN WD repeat domain 21C 7 ovary(1) 1 CTCGAGCAGTCGCGGTCTTTT 0.522 NA 14 34 0 0 0 0 RIPK2 8767 broad.mit.edu 37 8 90798848 90798848 + Missense_Mutation SNP G G A TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 901c2ed5-8348-4dd9-a84c-6c0b18d6525e 10c383d7-07ab-4de5-b6e3-e19dd22e0d47 g.chr8:90798848G>A uc003yee.2 + 9 1371 c.1057G>A c.(1057-1059)GAA>AAA p.E353K RIPK2_uc003yef.2_Missense_Mutation_p.E216K NM_003821 NP_003812 O43353 RIPK2_HUMAN receptor-interacting serine-threonine kinase 2 353 activation of MAPK activity|anti-apoptosis|apoptosis|inflammatory response|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of protein ubiquitination|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 cytosol ATP binding|CARD domain binding|LIM domain binding|protein homodimerization activity|protein serine/threonine kinase activity|signal transducer activity ovary(2) 2 BRCA - Breast invasive adenocarcinoma(11;0.0474) TCAGCTCCATGAAAATAGTGG 0.318 NA 24 112 0 0 0 0 KIAA1429 25962 broad.mit.edu 37 8 95538791 95538791 + Missense_Mutation SNP C C T TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 901c2ed5-8348-4dd9-a84c-6c0b18d6525e 10c383d7-07ab-4de5-b6e3-e19dd22e0d47 g.chr8:95538791C>T uc003ygo.1 - 8 1694 c.1681G>A c.(1681-1683)GAA>AAA p.E561K KIAA1429_uc003ygp.2_Missense_Mutation_p.E561K|KIAA1429_uc010maz.1_RNA NM_015496 NP_056311 Q69YN4 VIR_HUMAN hypothetical protein LOC25962 isoform 1 561 mRNA processing|RNA splicing nucleus ovary(1)|skin(1) 2 Breast(36;3.29e-05) BRCA - Breast invasive adenocarcinoma(8;0.00185) GACAAGACTTCATAGAAATGG 0.403 NA 33 164 0 0 0 0 ANKRD46 157567 broad.mit.edu 37 8 101541965 101541965 + Missense_Mutation SNP C C T TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 901c2ed5-8348-4dd9-a84c-6c0b18d6525e 10c383d7-07ab-4de5-b6e3-e19dd22e0d47 g.chr8:101541965C>T uc003yjm.2 - 3 301 c.97G>A c.(97-99)GAA>AAA p.E33K ANKRD46_uc003yjn.1_Missense_Mutation_p.E33K|ANKRD46_uc003yjo.1_Missense_Mutation_p.E33K|ANKRD46_uc003yjp.1_Missense_Mutation_p.E33K NM_198401 NP_940683 Q86W74 ANR46_HUMAN ankyrin repeat domain 46 33 ANK 1. integral to membrane 0 all_cancers(14;5.07e-05)|all_epithelial(15;2.84e-07)|Lung NSC(17;0.000353)|all_lung(17;0.000998) Epithelial(11;2.61e-11)|all cancers(13;5.03e-09)|OV - Ovarian serous cystadenocarcinoma(57;4.49e-06)|STAD - Stomach adenocarcinoma(118;0.0957) AAGCCACTTTCCAAAAGCCGC 0.453 NA 14 90 0 0 0 0 SYBU 55638 broad.mit.edu 37 8 110587410 110587410 + Missense_Mutation SNP G G C TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 901c2ed5-8348-4dd9-a84c-6c0b18d6525e 10c383d7-07ab-4de5-b6e3-e19dd22e0d47 g.chr8:110587410G>C uc003ynj.3 - 7 1880 c.1717C>G c.(1717-1719)CTC>GTC p.L573V SYBU_uc003yni.3_Missense_Mutation_p.L570V|SYBU_uc003ynk.3_Missense_Mutation_p.L454V|SYBU_uc010mco.2_Missense_Mutation_p.L572V|SYBU_uc003ynl.3_Missense_Mutation_p.L572V|SYBU_uc010mcp.2_Missense_Mutation_p.L573V|SYBU_uc010mcq.2_Missense_Mutation_p.L573V|SYBU_uc003yno.3_Missense_Mutation_p.L454V|SYBU_uc010mcr.2_Missense_Mutation_p.L573V|SYBU_uc003ynm.3_Missense_Mutation_p.L572V|SYBU_uc003ynn.3_Missense_Mutation_p.L572V|SYBU_uc010mcs.2_Missense_Mutation_p.L454V|SYBU_uc010mct.2_Missense_Mutation_p.L573V|SYBU_uc010mcu.2_Missense_Mutation_p.L572V|SYBU_uc003ynp.3_Missense_Mutation_p.L505V|SYBU_uc010mcv.2_Missense_Mutation_p.L573V|SYBU_uc003ynh.3_Missense_Mutation_p.L367V|SYBU_uc011lhw.1_Missense_Mutation_p.L443V NM_001099754 NP_001093224 Q9NX95 SYBU_HUMAN Golgi-localized syntaphilin-related protein 573 cytoplasmic membrane-bounded vesicle|cytoskeleton|Golgi membrane|integral to membrane ovary(1) 1 TCTCTCATGAGGCGGTTTGCA 0.547 NA 12 69 0 0 0 0 CSMD3 114788 broad.mit.edu 37 8 113256689 113256689 + Missense_Mutation SNP C C A TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 901c2ed5-8348-4dd9-a84c-6c0b18d6525e 10c383d7-07ab-4de5-b6e3-e19dd22e0d47 g.chr8:113256689C>A uc003ynu.2 - 65 10495 c.10336G>T c.(10336-10338)GGT>TGT p.G3446C CSMD3_uc003yns.2_Missense_Mutation_p.G2648C|CSMD3_uc003ynt.2_Missense_Mutation_p.G3406C|CSMD3_uc011lhx.1_Missense_Mutation_p.G3277C NM_198123 NP_937756 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 isoform 1 3446 Extracellular (Potential).|Sushi 28. 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 TCTGTTCCACCTGCTAAGAAG 0.428 NA HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 17 75 3.41e-10 4.25e-10 1 0 FER1L6 654463 broad.mit.edu 37 8 125061872 125061872 + Missense_Mutation SNP A A G TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 901c2ed5-8348-4dd9-a84c-6c0b18d6525e 10c383d7-07ab-4de5-b6e3-e19dd22e0d47 g.chr8:125061872A>G uc003yqw.2 + 22 2955 c.2749A>G c.(2749-2751)ACA>GCA p.T917A uc003yqy.1_Intron NM_001039112 NP_001034201 Q2WGJ9 FR1L6_HUMAN fer-1-like 6 917 Cytoplasmic (Potential).|C2 3. integral to membrane ovary(5)|skin(5)|central_nervous_system(1) 11 Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741) STAD - Stomach adenocarcinoma(47;0.00186) TTTGGGTGCCACAGTGGCTGC 0.473 NA 14 49 0 0 0 0 PTP4A3 11156 broad.mit.edu 37 8 142437153 142437153 + Missense_Mutation SNP G G T TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 901c2ed5-8348-4dd9-a84c-6c0b18d6525e 10c383d7-07ab-4de5-b6e3-e19dd22e0d47 g.chr8:142437153G>T uc003ywg.1 + 3 647 c.313G>T c.(313-315)GTG>TTG p.V105L PTP4A3_uc003ywh.1_Missense_Mutation_p.V105L|PTP4A3_uc010met.1_Intron NM_032611 NP_116000 O75365 TP4A3_HUMAN protein tyrosine phosphatase type IVA, member 3 105 Tyrosine-protein phosphatase. early endosome|plasma membrane identical protein binding|prenylated protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity 0 all_cancers(97;2.55e-15)|all_epithelial(106;1.39e-13)|Lung NSC(106;2.07e-05)|all_lung(105;2.89e-05)|Ovarian(258;0.0303)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0474) TGTGCACTGCGTGGCGGGCCT 0.682 NA 27 147 8.53e-09 1.03e-08 1 0 GPAA1 8733 broad.mit.edu 37 8 145140516 145140516 + Missense_Mutation SNP C C A TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 901c2ed5-8348-4dd9-a84c-6c0b18d6525e 10c383d7-07ab-4de5-b6e3-e19dd22e0d47 g.chr8:145140516C>A uc003zax.2 + 11 1602 c.1492C>A c.(1492-1494)CTG>ATG p.L498M NM_003801 NP_003792 O43292 GPAA1_HUMAN glycosylphosphatidylinositol anchor attachment 498 Helical; (Potential). attachment of GPI anchor to protein|C-terminal protein lipidation|protein complex assembly|protein retention in ER lumen GPI-anchor transamidase complex tubulin binding 0 all_cancers(97;2.87e-11)|all_epithelial(106;2.16e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.02e-40)|all cancers(56;2.11e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105) CTGGATGGCACTGAAGCTGGT 0.597 NA 30 97 4.75e-14 6.14e-14 1 0 TRPM3 80036 broad.mit.edu 37 9 73150933 73150933 + Missense_Mutation SNP C C A TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 901c2ed5-8348-4dd9-a84c-6c0b18d6525e 10c383d7-07ab-4de5-b6e3-e19dd22e0d47 g.chr9:73150933C>A uc004aid.2 - 25 5304 c.5060G>T c.(5059-5061)AGC>ATC p.S1687I TRPM3_uc004ahu.2_Missense_Mutation_p.S1529I|TRPM3_uc004ahv.2_Missense_Mutation_p.S1489I|TRPM3_uc004ahw.2_Missense_Mutation_p.S1559I|TRPM3_uc004ahx.2_Missense_Mutation_p.S1546I|TRPM3_uc004ahy.2_Missense_Mutation_p.S1549I|TRPM3_uc004ahz.2_Missense_Mutation_p.S1536I|TRPM3_uc004aia.2_Missense_Mutation_p.S1534I|TRPM3_uc004aib.2_Missense_Mutation_p.S1524I|TRPM3_uc004aic.2_Intron NM_001007471 NP_001007472 Q9HCF6 TRPM3_HUMAN transient receptor potential cation channel, 1712 Cytoplasmic (Potential). integral to membrane calcium channel activity ovary(3)|pancreas(2)|central_nervous_system(2)|skin(2) 9 CATGGACAGGCTGTCCCCTCG 0.522 NA 40 72 2.19e-29 3.02e-29 1 0 C9orf79 286234 broad.mit.edu 37 9 90502529 90502529 + Missense_Mutation SNP C C T TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 901c2ed5-8348-4dd9-a84c-6c0b18d6525e 10c383d7-07ab-4de5-b6e3-e19dd22e0d47 g.chr9:90502529C>T uc004app.3 + 4 3162 c.3127C>T c.(3127-3129)CCA>TCA p.P1043S NM_178828 NP_849150 Q6ZUB1 CI079_HUMAN chromosome 9 open reading frame 79 1043 integral to membrane ovary(3) 3 GGAGAAGCCCCCAACTTGGGA 0.602 NA 9 60 0 0 0 0 FAM75C1 441452 broad.mit.edu 37 9 90537073 90537073 + Missense_Mutation SNP C C A TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 901c2ed5-8348-4dd9-a84c-6c0b18d6525e 10c383d7-07ab-4de5-b6e3-e19dd22e0d47 g.chr9:90537073C>A uc010mqi.2 + 4 2280 c.2251C>A c.(2251-2253)CCG>ACG p.P751T FAM75C1_uc004apq.3_Missense_Mutation_p.P734T NM_001145124 NP_001138596 family with sequence similarity 75, member C1 0 CCAGAGGGCCCCGCGAGGGAT 0.547 NA 9 28 2.81e-09 3.41e-09 1 0 ABCA1 19 broad.mit.edu 37 9 107547893 107547893 + Silent SNP T T C TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 901c2ed5-8348-4dd9-a84c-6c0b18d6525e 10c383d7-07ab-4de5-b6e3-e19dd22e0d47 g.chr9:107547893T>C uc004bcl.2 - 49 6742 c.6429A>G c.(6427-6429)GTA>GTG p.V2143V NIPSNAP3B_uc004bcj.1_Intron NM_005502 NP_005493 O95477 ABCA1_HUMAN ATP-binding cassette, sub-family A member 1 2143 ABC transporter 2. Cdc42 protein signal transduction|cellular lipid metabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|endosome transport|G-protein coupled receptor protein signaling pathway|high-density lipoprotein particle assembly|interleukin-1 beta secretion|intracellular cholesterol transport|lysosome organization|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|platelet dense granule organization|positive regulation of cAMP biosynthetic process|reverse cholesterol transport integral to plasma membrane|membrane fraction|membrane raft|phagocytic vesicle anion transmembrane transporter activity|apolipoprotein A-I receptor activity|ATP binding|ATPase activity|cholesterol transporter activity|phospholipid transporter activity|small GTPase binding|syntaxin-13 binding large_intestine(4)|lung(4)|ovary(4)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|skin(1)|pancreas(1) 17 OV - Ovarian serous cystadenocarcinoma(323;0.023) Adenosine triphosphate(DB00171)|Glibenclamide(DB01016) CTGCTATTCGTACAACTATTG 0.428 NA 11 63 0 0 0 0 SVEP1 79987 broad.mit.edu 37 9 113163273 113163273 + Missense_Mutation SNP T T C TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 901c2ed5-8348-4dd9-a84c-6c0b18d6525e 10c383d7-07ab-4de5-b6e3-e19dd22e0d47 g.chr9:113163273T>C uc010mtz.2 - 40 10020 c.9683A>G c.(9682-9684)GAG>GGG p.E3228G SVEP1_uc010mty.2_Missense_Mutation_p.E1154G NM_153366 NP_699197 Q4LDE5 SVEP1_HUMAN polydom 3228 Sushi 30. cell adhesion cytoplasm|extracellular region|membrane calcium ion binding ovary(7) 7 GAATGGTGGCTCCCAGGTTCC 0.368 NA 14 29 0 0 0 0 PAPPA 5069 broad.mit.edu 37 9 119097340 119097340 + Missense_Mutation SNP C C A TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 901c2ed5-8348-4dd9-a84c-6c0b18d6525e 10c383d7-07ab-4de5-b6e3-e19dd22e0d47 g.chr9:119097340C>A uc004bjn.2 + 13 3979 c.3598C>A c.(3598-3600)CCT>ACT p.P1200T PAPPA_uc011lxp.1_Missense_Mutation_p.P895T|PAPPA_uc011lxq.1_Missense_Mutation_p.P575T NM_002581 NP_002572 Q13219 PAPP1_HUMAN pregnancy-associated plasma protein A 1200 cell differentiation|female pregnancy cytoplasm|extracellular region|membrane metalloendopeptidase activity|zinc ion binding ovary(4)|skin(4)|pancreas(1) 9 GACCTACAGCCCTGCCGAGCA 0.617 NA 9 54 0.00829132 0.00853121 1 0 COL5A1 1289 broad.mit.edu 37 9 137704317 137704317 + Missense_Mutation SNP A A G TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 901c2ed5-8348-4dd9-a84c-6c0b18d6525e 10c383d7-07ab-4de5-b6e3-e19dd22e0d47 g.chr9:137704317A>G uc004cfe.2 + 47 4095 c.3713A>G c.(3712-3714)GAG>GGG p.E1238G NM_000093 NP_000084 P20908 CO5A1_HUMAN alpha 1 type V collagen preproprotein 1238 Triple-helical region. axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells collagen type V heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding skin(4)|ovary(3)|pancreas(2)|central_nervous_system(1)|kidney(1) 11 Myeloproliferative disorder(178;0.0341) all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131) CCTCCAGGCGAGAAGGGTGAG 0.527 NA 6 40 0 0 0 0 FRMPD4 9758 broad.mit.edu 37 X 12734432 12734432 + Nonsense_Mutation SNP T T A TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 901c2ed5-8348-4dd9-a84c-6c0b18d6525e 10c383d7-07ab-4de5-b6e3-e19dd22e0d47 g.chrX:12734432T>A uc004cuz.1 + 15 2360 c.1854T>A c.(1852-1854)TGT>TGA p.C618* FRMPD4_uc011mij.1_Nonsense_Mutation_p.C610* NM_014728 NP_055543 Q14CM0 FRPD4_HUMAN FERM and PDZ domain containing 4 618 positive regulation of synapse structural plasticity cytoskeleton|dendritic spine phosphatidylinositol-4,5-bisphosphate binding|protein binding central_nervous_system(5)|ovary(3)|skin(2)|large_intestine(1)|lung(1)|pancreas(1) 13 AGGCCCCCTGTGAGGCAGACT 0.532 NA 47 30 0 0 0 0 HUWE1 10075 broad.mit.edu 37 X 53672318 53672318 + Missense_Mutation SNP C C G TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 901c2ed5-8348-4dd9-a84c-6c0b18d6525e 10c383d7-07ab-4de5-b6e3-e19dd22e0d47 g.chrX:53672318C>G uc004dsp.2 - 7 851 c.449G>C c.(448-450)CGT>CCT p.R150P NM_031407 NP_113584 Q7Z6Z7 HUWE1_HUMAN HECT, UBA and WWE domain containing 1 150 base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasm|nucleus DNA binding|protein binding|ubiquitin-protein ligase activity ovary(8)|large_intestine(4)|breast(4)|kidney(1) 17 AGATCCCAGACGAGTGATGTA 0.458 NA 16 14 0 0 0 0 HEPH 9843 broad.mit.edu 37 X 65480093 65480093 + Missense_Mutation SNP T T C TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 901c2ed5-8348-4dd9-a84c-6c0b18d6525e 10c383d7-07ab-4de5-b6e3-e19dd22e0d47 g.chrX:65480093T>C uc011moz.1 + 19 3257 c.3197T>C c.(3196-3198)TTT>TCT p.F1066S HEPH_uc004dwn.2_Missense_Mutation_p.F1066S|HEPH_uc004dwo.2_Missense_Mutation_p.F796S|HEPH_uc010nkr.2_Missense_Mutation_p.F874S|HEPH_uc011mpa.1_Missense_Mutation_p.F1066S NM_138737 NP_620074 Q9BQS7 HEPH_HUMAN hephaestin isoform a 1063 Extracellular (Potential).|Plastocyanin-like 6. cellular iron ion homeostasis|copper ion transport|transmembrane transport integral to membrane|plasma membrane copper ion binding|oxidoreductase activity lung(5)|ovary(4) 9 TTCACTGTTTTTTCTCGAACA 0.473 NA 17 12 0 0 0 0 ATRX 546 broad.mit.edu 37 X 76907828 76907828 + Missense_Mutation SNP C C G TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 901c2ed5-8348-4dd9-a84c-6c0b18d6525e 10c383d7-07ab-4de5-b6e3-e19dd22e0d47 g.chrX:76907828C>G uc004ecp.3 - 15 4565 c.4333G>C c.(4333-4335)GAA>CAA p.E1445Q ATRX_uc004ecq.3_Missense_Mutation_p.E1407Q|ATRX_uc004eco.3_Missense_Mutation_p.E1230Q NM_000489 NP_000480 P46100 ATRX_HUMAN transcriptional regulator ATRX isoform 1 1445 Poly-Glu. DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent nuclear heterochromatin ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding haematopoietic_and_lymphoid_tissue(14)|pancreas(12)|lung(1)|breast(1)|skin(1)|kidney(1) 30 Phosphatidylserine(DB00144) tcctcctcttcttcctcAGAA 0.199 NA Mis|F|N Pancreatic neuroendocrine tumors ATR-X (alpha thalassemia/mental retardation) syndrome 22 21 0 0 0 0 BEX4 56271 broad.mit.edu 37 X 102471104 102471104 + Missense_Mutation SNP C C A TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 901c2ed5-8348-4dd9-a84c-6c0b18d6525e 10c383d7-07ab-4de5-b6e3-e19dd22e0d47 g.chrX:102471104C>A uc004ejv.3 + 3 258 c.23C>A c.(22-24)GCG>GAG p.A8E BEX4_uc004ejw.3_Missense_Mutation_p.A8E NM_001080425 NP_001073894 Q9NWD9 BEX4_HUMAN BEX family member 4 8 cytoplasm|nucleus skin(1) 1 GAGGAACTAGCGGCAAACAAT 0.512 NA 20 21 7.21e-19 9.57e-19 1 0 ACSL4 2182 broad.mit.edu 37 X 108904779 108904779 + Missense_Mutation SNP T T C TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 901c2ed5-8348-4dd9-a84c-6c0b18d6525e 10c383d7-07ab-4de5-b6e3-e19dd22e0d47 g.chrX:108904779T>C uc004eoi.2 - 15 2306 c.1801A>G c.(1801-1803)ATC>GTC p.I601V ACSL4_uc004eoj.2_Missense_Mutation_p.I560V|ACSL4_uc004eok.2_Missense_Mutation_p.I560V NM_022977 NP_075266 O60488 ACSL4_HUMAN acyl-CoA synthetase long-chain family member 4 601 Cytoplasmic (Potential). fatty acid metabolic process|learning or memory|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane ATP binding|long-chain fatty acid-CoA ligase activity large_intestine(1)|lung(1)|ovary(1) 3 Icosapent(DB00159)|Troglitazone(DB00197) AAAGCACAGATGTTGTCAATA 0.333 NA 22 19 0 0 0 0 ALG13 79868 broad.mit.edu 37 X 110951259 110951259 + Missense_Mutation SNP C C G TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 901c2ed5-8348-4dd9-a84c-6c0b18d6525e 10c383d7-07ab-4de5-b6e3-e19dd22e0d47 g.chrX:110951259C>G uc011msy.1 + 4 422 c.388C>G c.(388-390)CTG>GTG p.L130V ALG13_uc011msw.1_Missense_Mutation_p.L52V|ALG13_uc011msx.1_Missense_Mutation_p.L26V|ALG13_uc011msz.1_Missense_Mutation_p.L52V|ALG13_uc011mta.1_Missense_Mutation_p.L26V|ALG13_uc011mtb.1_Missense_Mutation_p.L26V Q9NP73 ALG13_HUMAN SubName: Full=Asparagine-linked glycosylation 13 homolog (S. cerevisiae); 130 dolichol-linked oligosaccharide biosynthetic process|lipid glycosylation|post-translational protein modification|protein N-linked glycosylation via asparagine endoplasmic reticulum membrane carbohydrate binding|N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase activity lung(1) 1 TCACAGGGTCCTGACTTGTCC 0.512 NA 7 7 0 0 0 0 TRPC5 7224 broad.mit.edu 37 X 111097062 111097062 + Silent SNP T T A TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 901c2ed5-8348-4dd9-a84c-6c0b18d6525e 10c383d7-07ab-4de5-b6e3-e19dd22e0d47 g.chrX:111097062T>A uc004epl.1 - 4 2092 c.1173A>T c.(1171-1173)ACA>ACT p.T391T TRPC5_uc004epm.1_Silent_p.T391T NM_012471 NP_036603 Q9UL62 TRPC5_HUMAN transient receptor potential cation channel, 391 Extracellular (Potential). axon guidance calcium channel complex|integral to plasma membrane protein binding|store-operated calcium channel activity urinary_tract(1) 1 CATGAAGGTCTGTCCTGACAA 0.483 NA 46 28 0 0 0 0 UBE2NL 389898 broad.mit.edu 37 X 142967322 142967322 + Silent SNP T T A TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 901c2ed5-8348-4dd9-a84c-6c0b18d6525e 10c383d7-07ab-4de5-b6e3-e19dd22e0d47 g.chrX:142967322T>A uc004fca.2 + 1 150 c.120T>A c.(118-120)GCT>GCA p.A40A NM_001012989 NP_001013007 Q5JXB2 UE2NL_HUMAN ubiquitin-conjugating enzyme E2N-like 40 acid-amino acid ligase activity 0 Acute lymphoblastic leukemia(192;6.56e-05) TGGTCATTGCTGGGGAATCAA 0.473 NA 53 35 0 0 0 0 ATP2B3 492 broad.mit.edu 37 X 152807330 152807330 + Missense_Mutation SNP C C A TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 901c2ed5-8348-4dd9-a84c-6c0b18d6525e 10c383d7-07ab-4de5-b6e3-e19dd22e0d47 g.chrX:152807330C>A uc004fht.1 + 3 736 c.610C>A c.(610-612)CTC>ATC p.L204I ATP2B3_uc004fhs.1_Missense_Mutation_p.L204I NM_001001344 NP_001001344 Q16720 AT2B3_HUMAN plasma membrane calcium ATPase 3 isoform 3b 204 Cytoplasmic (Potential). ATP biosynthetic process|platelet activation integral to membrane|plasma membrane ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding pancreas(1) 1 all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05) CGGGCAGCTCCTCCAGGTCCC 0.622 NA 61 27 3.07e-27 4.21e-27 1 0 AMPD1 270 broad.mit.edu 37 1 115216688 115216688 + Frame_Shift_Del DEL A A - TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 901c2ed5-8348-4dd9-a84c-6c0b18d6525e 10c383d7-07ab-4de5-b6e3-e19dd22e0d47 g.chr1:115216688delA uc001efe.1 - 14 1900 c.1816delT c.(1816-1818)TACfs p.Y606fs AMPD1_uc001eff.1_Frame_Shift_Del_p.Y602fs NM_000036 NP_000027 P23109 AMPD1_HUMAN adenosine monophosphate deaminase 1 (isoform M) 606 purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage cytosol AMP deaminase activity|metal ion binding ovary(2)|large_intestine(1)|skin(1) 4 all_epithelial(7;7.83e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211) all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133) Adenosine monophosphate(DB00131) AAAAACAAGTACTGTAGCACG 0.343 NA 10 75 --- --- --- --- NA NA NA NA KCNN3 3782 broad.mit.edu 37 1 154680586 154680588 + In_Frame_Del DEL GCT GCT - TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 901c2ed5-8348-4dd9-a84c-6c0b18d6525e 10c383d7-07ab-4de5-b6e3-e19dd22e0d47 g.chr1:154680586_154680588delGCT uc001ffp.2 - 8 2374_2376 c.2060_2062delAGC c.(2059-2064)CAGCTC>CTC p.Q687del KCNN3_uc001ffo.2_In_Frame_Del_p.Q382del NM_002249 NP_002240 Q9UGI6 KCNN3_HUMAN small conductance calcium-activated potassium 692 Poly-Gln. integral to membrane calmodulin binding lung(1) 1 all_lung(78;2.29e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.108)|all_neural(408;0.245) BRCA - Breast invasive adenocarcinoma(34;0.00819) GCAGACAGGAGCTGCTGCTGCTG 0.64 NA 7 129 --- --- --- --- NA NA NA NA IL19 29949 broad.mit.edu 37 1 207010323 207010323 + Frame_Shift_Del DEL A A - TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 901c2ed5-8348-4dd9-a84c-6c0b18d6525e 10c383d7-07ab-4de5-b6e3-e19dd22e0d47 g.chr1:207010323delA uc001hep.2 + 4 1104 c.165delA c.(163-165)CCAfs p.P55fs IL19_uc001heo.2_Frame_Shift_Del_p.P93fs|IL19_uc010prx.1_Frame_Shift_Del_p.P55fs NM_013371 NP_037503 Q9UHD0 IL19_HUMAN interleukin 19 isoform 2 precursor 55 apoptosis|immune response|signal transduction extracellular space cytokine activity ovary(1)|central_nervous_system(1) 2 BRCA - Breast invasive adenocarcinoma(75;0.211) ACACCTTCCCAAATGTCACTA 0.418 NA 24 176 --- --- --- --- NA NA NA NA ITGA8 8516 broad.mit.edu 37 10 15646284 15646284 + Frame_Shift_Del DEL C C - TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 901c2ed5-8348-4dd9-a84c-6c0b18d6525e 10c383d7-07ab-4de5-b6e3-e19dd22e0d47 g.chr10:15646284delC uc001ioc.1 - 20 2041 c.2041delG c.(2041-2043)GAAfs p.E681fs ITGA8_uc010qcb.1_Frame_Shift_Del_p.E666fs NM_003638 NP_003629 P53708 ITA8_HUMAN integrin, alpha 8 precursor 681 Extracellular (Potential). cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development integrin complex receptor activity ovary(3)|lung(3) 6 TATGCTCCTTCCCCTTCATTT 0.358 NA 12 36 --- --- --- --- NA NA NA NA ANKRD30A 91074 broad.mit.edu 37 10 37508037 37508037 + Frame_Shift_Del DEL T T - TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 901c2ed5-8348-4dd9-a84c-6c0b18d6525e 10c383d7-07ab-4de5-b6e3-e19dd22e0d47 g.chr10:37508037delT uc001iza.1 + 34 3328 c.3229delT c.(3229-3231)TTTfs p.F1077fs NM_052997 NP_443723 Q9BXX3 AN30A_HUMAN ankyrin repeat domain 30A 1133 Potential. nucleus DNA binding|sequence-specific DNA binding transcription factor activity ovary(7)|breast(1)|skin(1) 9 AAATAAATACTTTGAGGACAT 0.333 NA 24 96 --- --- --- --- NA NA NA NA C10orf58 84293 broad.mit.edu 37 10 82187100 82187100 + Frame_Shift_Del DEL G G - TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 901c2ed5-8348-4dd9-a84c-6c0b18d6525e 10c383d7-07ab-4de5-b6e3-e19dd22e0d47 g.chr10:82187100delG uc001kcc.3 + 5 584 c.424delG c.(424-426)GGTfs p.G142fs C10orf58_uc001kcd.3_Frame_Shift_Del_p.G131fs|C10orf58_uc001kce.3_Frame_Shift_Del_p.G142fs|C10orf58_uc001kcf.3_Frame_Shift_Del_p.G142fs NM_032333 NP_115709 Q9BRX8 CJ058_HUMAN hypothetical protein LOC84293 precursor 142 extracellular region 0 Colorectal(32;0.229) AAAGTTCTATGGTCCACAAAG 0.493 NA 36 116 --- --- --- --- NA NA NA NA ERBB3 2065 broad.mit.edu 37 12 56490314 56490319 + In_Frame_Del DEL AAGGCT AAGGCT - TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 901c2ed5-8348-4dd9-a84c-6c0b18d6525e 10c383d7-07ab-4de5-b6e3-e19dd22e0d47 g.chr12:56490314_56490319delAAGGCT uc001sjh.2 + 18 2276_2281 c.2083_2088delAAGGCT c.(2083-2088)AAGGCTdel p.KA695del ERBB3_uc009zoj.2_Intron|ERBB3_uc010sqb.1_In_Frame_Del_p.KA52del|ERBB3_uc010sqc.1_In_Frame_Del_p.KA636del|ERBB3_uc009zok.2_Splice_Site_p.K137_splice|ERBB3_uc001sjk.2_5'UTR NM_001982 NP_001973 P21860 ERBB3_HUMAN erbB-3 isoform 1 precursor 695_696 Cytoplasmic (Potential). cranial nerve development|heart development|negative regulation of cell adhesion|negative regulation of neuron apoptosis|negative regulation of secretion|negative regulation of signal transduction|neuron apoptosis|phosphatidylinositol 3-kinase cascade|positive regulation of phosphatidylinositol 3-kinase cascade|regulation of cell proliferation|Schwann cell differentiation|transmembrane receptor protein tyrosine kinase signaling pathway|wound healing basolateral plasma membrane|extracellular space|integral to plasma membrane|receptor complex ATP binding|growth factor binding|protein heterodimerization activity|protein homodimerization activity|protein tyrosine kinase activator activity|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity lung(3)|central_nervous_system(2)|stomach(1)|ovary(1)|skin(1) 8 OV - Ovarian serous cystadenocarcinoma(18;0.112) CCCCAGTGAGAAGGCTAACAAAGTCT 0.51 NA 48 163 --- --- --- --- NA NA NA NA ADCY4 196883 broad.mit.edu 37 14 24788954 24788954 + Frame_Shift_Del DEL A A - TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 901c2ed5-8348-4dd9-a84c-6c0b18d6525e 10c383d7-07ab-4de5-b6e3-e19dd22e0d47 g.chr14:24788954delA uc001wov.2 - 21 2733 c.2727delT c.(2725-2727)TTTfs p.F909fs ADCY4_uc001wow.2_Frame_Shift_Del_p.F909fs|ADCY4_uc010toh.1_Frame_Shift_Del_p.F595fs|ADCY4_uc001wox.2_Frame_Shift_Del_p.F909fs|ADCY4_uc001woy.2_Frame_Shift_Del_p.F909fs NM_139247 NP_640340 Q8NFM4 ADCY4_HUMAN adenylate cyclase 4 909 Cytoplasmic (Potential). activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport cytoplasm|integral to membrane|plasma membrane adenylate cyclase activity|ATP binding|metal ion binding|protein binding ovary(1)|lung(1)|pancreas(1) 3 GBM - Glioblastoma multiforme(265;0.0192) TCACCTCATCAAAATCAGCAA 0.453 NA 27 52 --- --- --- --- NA NA NA NA TMX1 81542 broad.mit.edu 37 14 51713848 51713858 + Frame_Shift_Del DEL GGACTAAGAAG GGACTAAGAAG - TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 901c2ed5-8348-4dd9-a84c-6c0b18d6525e 10c383d7-07ab-4de5-b6e3-e19dd22e0d47 g.chr14:51713848_51713858delGGACTAAGAAG uc001wza.3 + 4 478_488 c.353_363delGGACTAAGAAG c.(352-363)AGGACTAAGAAGfs p.R118fs TMX1_uc010aoa.2_Frame_Shift_Del_p.R34fs NM_030755 NP_110382 Q9H3N1 TMX1_HUMAN thioredoxin domain containing 1 precursor 118_121 Thioredoxin.|Extracellular (Potential). anti-apoptosis|cell proliferation|cell redox homeostasis|DNA replication|electron transport chain|ER to Golgi vesicle-mediated transport|leukocyte activation|positive regulation of growth|positive regulation of transcription, DNA-dependent|response to stress|signal transduction endoplasmic reticulum membrane|integral to membrane|membrane fraction arsenate reductase (thioredoxin) activity|disulfide oxidoreductase activity 0 CAGGGTCCAAGGACTAAGAAGGACTTCATAA 0.351 NA 8 95 --- --- --- --- NA NA NA NA SLC9A5 6553 broad.mit.edu 37 16 67289038 67289043 + In_Frame_Del DEL TCTTTA TCTTTA - TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 901c2ed5-8348-4dd9-a84c-6c0b18d6525e 10c383d7-07ab-4de5-b6e3-e19dd22e0d47 g.chr16:67289038_67289043delTCTTTA uc002esm.2 + 3 668_673 c.605_610delTCTTTA c.(604-612)CTCTTTATC>CTC p.FI203del SLC9A5_uc010cee.2_5'UTR|SLC9A5_uc010vji.1_5'UTR NM_004594 NP_004585 Q14940 SL9A5_HUMAN solute carrier family 9 (sodium/hydrogen 203_204 Helical; (Potential). regulation of pH integral to membrane|plasma membrane sodium:hydrogen antiporter activity ovary(1)|pancreas(1) 2 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116) AATGAGACTCTCTTTATCATCGTCTT 0.583 NA 7 95 --- --- --- --- NA NA NA NA MYO19 80179 broad.mit.edu 37 17 34852240 34852241 + Frame_Shift_Del DEL TT TT - TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 901c2ed5-8348-4dd9-a84c-6c0b18d6525e 10c383d7-07ab-4de5-b6e3-e19dd22e0d47 g.chr17:34852240_34852241delTT uc010wcy.1 - 27 3759_3760 c.2767_2768delAA c.(2767-2769)AAGfs p.K923fs MYO19_uc002hmw.2_Frame_Shift_Del_p.K723fs|MYO19_uc010cuu.2_RNA|ZNHIT3_uc010cut.1_Intron NM_001163735 NP_001157207 Q96H55 MYO19_HUMAN myosin XIX isoform 2 923 Mitochondrial targeting. mitochondrial outer membrane|myosin complex actin binding|ATP binding|motor activity ovary(1) 1 Breast(25;0.00957)|Ovarian(249;0.17) Kidney(155;0.104) UCEC - Uterine corpus endometrioid carcinoma (308;0.0185) GCAGTGAAACTTTATCGATCCC 0.495 NA 10 44 --- --- --- --- NA NA NA NA FSCN2 25794 broad.mit.edu 37 17 79503253 79503255 + In_Frame_Del DEL GAA GAA - TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 901c2ed5-8348-4dd9-a84c-6c0b18d6525e 10c383d7-07ab-4de5-b6e3-e19dd22e0d47 g.chr17:79503253_79503255delGAA uc010wup.1 + 3 1206_1208 c.1065_1067delGAA c.(1063-1068)ATGAAG>ATG p.K357del FSCN2_uc010wuo.1_In_Frame_Del_p.K357del NM_012418 NP_036550 O14926 FSCN2_HUMAN fascin 2 isoform 1 357 actin filament bundle assembly|anatomical structure morphogenesis|visual perception actin cytoskeleton|cytoplasm|stereocilium actin filament binding|protein binding, bridging 0 all_neural(118;0.0878)|Melanoma(429;0.242) BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0371) ACGTGTGCATGAAGAAGAATGGG 0.601 NA 5 5 --- --- --- --- NA NA NA NA SMCHD1 23347 broad.mit.edu 37 18 2703849 2703852 + Frame_Shift_Del DEL GAAT GAAT - TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 901c2ed5-8348-4dd9-a84c-6c0b18d6525e 10c383d7-07ab-4de5-b6e3-e19dd22e0d47 g.chr18:2703849_2703852delGAAT uc002klm.3 + 13 1996_1999 c.1807_1810delGAAT c.(1807-1812)GAATGGfs p.E603fs SMCHD1_uc002klk.3_RNA|SMCHD1_uc002kll.3_5'Flank NM_015295 NP_056110 A6NHR9 SMHD1_HUMAN structural maintenance of chromosomes flexible 603_604 chromosome organization ATP binding 0 TGCAGCAATAGAATGGGATGGAAA 0.284 NA 12 83 --- --- --- --- NA NA NA NA NOTCH3 4854 broad.mit.edu 37 19 15271836 15271836 + Frame_Shift_Del DEL G G - TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 901c2ed5-8348-4dd9-a84c-6c0b18d6525e 10c383d7-07ab-4de5-b6e3-e19dd22e0d47 g.chr19:15271836delG uc002nan.2 - 33 6679 c.6603delC c.(6601-6603)CCCfs p.P2201fs NM_000435 NP_000426 Q9UM47 NOTC3_HUMAN Notch homolog 3 precursor 2201 Cytoplasmic (Potential). Notch receptor processing|Notch signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane calcium ion binding|protein binding|receptor activity lung(8)|ovary(5)|skin(4)|prostate(2)|central_nervous_system(1)|breast(1) 21 OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15) GCGGGGAGACGGGGGTCCCTG 0.741 NA 2 4 --- --- --- --- NA NA NA NA ZNF211 10520 broad.mit.edu 37 19 58152339 58152340 + Frame_Shift_Del DEL CT CT - TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 901c2ed5-8348-4dd9-a84c-6c0b18d6525e 10c383d7-07ab-4de5-b6e3-e19dd22e0d47 g.chr19:58152339_58152340delCT uc002qpq.2 + 3 665_666 c.485_486delCT c.(484-486)CCTfs p.P162fs ZNF211_uc010yhb.1_Frame_Shift_Del_p.P166fs|ZNF211_uc002qpp.2_Frame_Shift_Del_p.P175fs|ZNF211_uc002qpr.2_Frame_Shift_Del_p.P226fs|ZNF211_uc002qps.2_Frame_Shift_Del_p.P227fs|ZNF211_uc002qpt.2_Frame_Shift_Del_p.P174fs|ZNF211_uc010yhc.1_Frame_Shift_Del_p.P174fs|ZNF211_uc010yhd.1_Frame_Shift_Del_p.P101fs|ZNF211_uc010yhe.1_Frame_Shift_Del_p.P153fs NM_198855 NP_942152 Q13398 ZN211_HUMAN zinc finger protein 211 isoform 2 162 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(2) 2 Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026) ACAGAGGCACCTTTCAGAAGTT 0.47 NA 25 58 --- --- --- --- NA NA NA NA RNF181 51255 broad.mit.edu 37 2 85824002 85824006 + Frame_Shift_Del DEL TGCCT TGCCT - TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 901c2ed5-8348-4dd9-a84c-6c0b18d6525e 10c383d7-07ab-4de5-b6e3-e19dd22e0d47 g.chr2:85824002_85824006delTGCCT uc002spv.1 + 3 325_329 c.275_279delTGCCT c.(274-279)ATGCCTfs p.M92fs NM_016494 NP_057578 Q9P0P0 RN181_HUMAN ring finger protein 181 92_93 RING-type; atypical. ligase activity|zinc ion binding 0 GCCATTGAGATGCCTTGCCATCACC 0.532 NA 15 194 --- --- --- --- NA NA NA NA ALPP 250 broad.mit.edu 37 2 233243704 233243716 + Frame_Shift_Del DEL TGGAACCGCGAGG TGGAACCGCGAGG - rs61747708 byFrequency TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 901c2ed5-8348-4dd9-a84c-6c0b18d6525e 10c383d7-07ab-4de5-b6e3-e19dd22e0d47 g.chr2:233243704_233243716delTGGAACCGCGAGG uc002vsq.2 + 2 265_277 c.100_112delTGGAACCGCGAGG c.(100-114)TGGAACCGCGAGGCAfs p.W34fs ALPP_uc002vsr.2_5'Flank NM_001632 NP_001623 P05187 PPB1_HUMAN placental alkaline phosphatase preproprotein 34_38 anchored to membrane|cell surface|integral to membrane|plasma membrane alkaline phosphatase activity|metal ion binding ovary(1) 1 all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132) Epithelial(121;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196) CCCGGACTTCTGGAACCGCGAGGCAGCCGAGGC 0.634 NA 11 96 --- --- --- --- NA NA NA NA CHEK2 11200 broad.mit.edu 37 22 29095857 29095867 + Frame_Shift_Del DEL AGCTTGCAGGT AGCTTGCAGGT - TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 901c2ed5-8348-4dd9-a84c-6c0b18d6525e 10c383d7-07ab-4de5-b6e3-e19dd22e0d47 g.chr22:29095857_29095867delAGCTTGCAGGT uc003adu.1 - 9 1039_1049 c.967_977delACCTGCAAGCT c.(967-978)ACCTGCAAGCTCfs p.T323fs CHEK2_uc003ads.1_Frame_Shift_Del_p.T102fs|CHEK2_uc010gvh.1_Frame_Shift_Del_p.T232fs|CHEK2_uc010gvi.1_Frame_Shift_Del_p.T323fs|CHEK2_uc010gvj.1_Intron|CHEK2_uc003adr.1_RNA|CHEK2_uc010gvk.1_RNA|CHEK2_uc003adt.1_Frame_Shift_Del_p.T366fs|CHEK2_uc003adv.1_Frame_Shift_Del_p.T323fs|CHEK2_uc003adw.1_Frame_Shift_Del_p.T323fs|CHEK2_uc003adx.1_Frame_Shift_Del_p.T102fs|CHEK2_uc003ady.1_Frame_Shift_Del_p.T323fs|CHEK2_uc003adz.1_Frame_Shift_Del_p.T127fs NM_007194 NP_009125 O96017 CHK2_HUMAN protein kinase CHK2 isoform a 323_326 Protein kinase. cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence PML body ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity central_nervous_system(17)|stomach(1)|ovary(1)|lung(1) 20 GTAAAAATAGAGCTTGCAGGTAGCTTCTTTC 0.464 NA F breast Direct_reversal_of_damage|Other_conserved_DNA_damage_response_genes Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|CHEK2-associated_cancer 48 124 --- --- --- --- NA NA NA NA CDH9 1007 broad.mit.edu 37 5 26988405 26988405 + Frame_Shift_Del DEL C C - TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 901c2ed5-8348-4dd9-a84c-6c0b18d6525e 10c383d7-07ab-4de5-b6e3-e19dd22e0d47 g.chr5:26988405delC uc003jgs.1 - 2 205 c.36delG c.(34-36)TGGfs p.W12fs CDH9_uc010iug.2_Frame_Shift_Del_p.W12fs NM_016279 NP_057363 Q9ULB4 CADH9_HUMAN cadherin 9, type 2 preproprotein 12 adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(5)|skin(2)|upper_aerodigestive_tract(1)|haematopoietic_and_lymphoid_tissue(1) 9 ACATATAGGTCCAGATGAATA 0.348 NA 7 84 --- --- --- --- NA NA NA NA LIN28B 389421 broad.mit.edu 37 6 105474345 105474346 + Frame_Shift_Ins INS - - A TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 901c2ed5-8348-4dd9-a84c-6c0b18d6525e 10c383d7-07ab-4de5-b6e3-e19dd22e0d47 g.chr6:105474345_105474346insA uc003pqv.1 + 3 574_575 c.371_372insA c.(370-372)CCAfs p.P124fs LIN28B_uc010kda.1_Frame_Shift_Ins_p.P84fs NM_001004317 NP_001004317 Q6ZN17 LN28B_HUMAN lin-28 homolog B 124 miRNA catabolic process|pre-miRNA processing|regulation of transcription, DNA-dependent|RNA 3'-end processing cytoplasm|nucleus DNA binding|protein binding|RNA binding|zinc ion binding 0 all_cancers(87;0.00346)|Acute lymphoblastic leukemia(125;2.26e-08)|all_hematologic(75;2.79e-06)|all_epithelial(87;0.204) AAAAGAAAACCAAAGGGAGATA 0.376 NA 25 83 --- --- --- --- NA NA NA NA EPHA1 2041 broad.mit.edu 37 7 143095840 143095841 + Frame_Shift_Ins INS - - G rs143087087 TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 901c2ed5-8348-4dd9-a84c-6c0b18d6525e 10c383d7-07ab-4de5-b6e3-e19dd22e0d47 g.chr7:143095840_143095841insG uc003wcz.2 - 6 1276_1277 c.1189_1190insC c.(1189-1191)CGGfs p.R397fs NM_005232 NP_005223 P21709 EPHA1_HUMAN ephrin receptor EphA1 precursor 397 Extracellular (Potential).|Fibronectin type-III 1. integral to plasma membrane ATP binding|ephrin receptor activity ovary(3)|lung(1)|breast(1) 5 Melanoma(164;0.205) Myeloproliferative disorder(862;0.0255) GGTGAGCCCCCGGGCCCCCGGC 0.614 NA 13 41 --- --- --- --- NA NA NA NA