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 PLEKHM2 23207 broad.mit.edu 37 1 16051962 16051962 + Missense_Mutation SNP T T C TCGA-CV-6945-01A-11D-1912-08 TCGA-CV-6945-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fcfc9b74-5b8a-45b7-97ca-4e477e941e7c 0e82fe21-343e-4c8a-8b59-f1fd2261bebd g.chr1:16051962T>C uc010obo.1 + 8 1090 c.863T>C c.(862-864)GTG>GCG p.V288A NM_015164 NP_055979 Q8IWE5 PKHM2_HUMAN pleckstrin homology domain containing, family M 288 Interaction with KIF5B. Golgi organization cytoplasm kinesin binding ovary(1) 1 Colorectal(325;0.000259)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.00057)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;9.18e-07)|COAD - Colon adenocarcinoma(227;4.5e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|STAD - Stomach adenocarcinoma(313;0.00774)|READ - Rectum adenocarcinoma(331;0.0657) ACCACCCCCGTGCACACCACC 0.672 NA 2 5 0 0 0 0 RAP1GAP 5909 broad.mit.edu 37 1 21940122 21940122 + Missense_Mutation SNP T T A TCGA-CV-6945-01A-11D-1912-08 TCGA-CV-6945-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fcfc9b74-5b8a-45b7-97ca-4e477e941e7c 0e82fe21-343e-4c8a-8b59-f1fd2261bebd g.chr1:21940122T>A uc001bex.2 - 9 731 c.473A>T c.(472-474)AAG>ATG p.K158M RAP1GAP_uc001bev.2_Missense_Mutation_p.K158M|RAP1GAP_uc001bew.2_Missense_Mutation_p.K222M|RAP1GAP_uc001bey.2_Missense_Mutation_p.K158M NM_002885 NP_002876 P47736 RPGP1_HUMAN RAP1 GTPase activating protein isoform c 158 regulation of Ras GTPase activity|signal transduction cytosol|Golgi membrane|membrane fraction GTPase activator activity|GTPase activity|protein homodimerization activity|Ras GTPase binding breast(2)|ovary(1) 3 Colorectal(325;0.000147)|Renal(390;0.000734)|Lung NSC(340;0.000861)|all_lung(284;0.000901)|Breast(348;0.012)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427) UCEC - Uterine corpus endometrioid carcinoma (279;0.0192)|OV - Ovarian serous cystadenocarcinoma(117;2.3e-26)|COAD - Colon adenocarcinoma(152;1.59e-05)|GBM - Glioblastoma multiforme(114;2.7e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000354)|STAD - Stomach adenocarcinoma(196;0.00645)|KIRC - Kidney renal clear cell carcinoma(1967;0.00862)|READ - Rectum adenocarcinoma(331;0.0625)|Lung(427;0.146) AGACCTCACCTTTGCCATCTG 0.597 NA 27 102 0 0 0 0 NRD1 4898 broad.mit.edu 37 1 52305985 52305985 + Silent SNP T T C TCGA-CV-6945-01A-11D-1912-08 TCGA-CV-6945-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fcfc9b74-5b8a-45b7-97ca-4e477e941e7c 0e82fe21-343e-4c8a-8b59-f1fd2261bebd g.chr1:52305985T>C uc001ctc.3 - 2 865 c.543A>G c.(541-543)GAA>GAG p.E181E NRD1_uc009vzb.2_5'UTR|NRD1_uc001ctd.3_Silent_p.E181E|NRD1_uc001cte.2_Silent_p.E49E|NRD1_uc001ctf.2_Silent_p.E181E|NRD1_uc010ong.1_RNA|NRD1_uc009vzc.1_Silent_p.E49E|NRD1_uc001ctg.1_5'Flank NM_002525 NP_002516 O43847 NRDC_HUMAN nardilysin isoform a Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment cell migration|cell proliferation|neuromuscular junction development|positive regulation of membrane protein ectodomain proteolysis|proteolysis|regulation of endopeptidase activity cell surface|cytosol epidermal growth factor binding|metalloendopeptidase activity|zinc ion binding 0 catcatcatgttcatcatcaa 0.154 NA 6 15 0 0 0 0 BARHL2 343472 broad.mit.edu 37 1 91182551 91182551 + Missense_Mutation SNP C C A TCGA-CV-6945-01A-11D-1912-08 TCGA-CV-6945-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fcfc9b74-5b8a-45b7-97ca-4e477e941e7c 0e82fe21-343e-4c8a-8b59-f1fd2261bebd g.chr1:91182551C>A uc001dns.2 - 1 244 c.202G>T c.(202-204)GTC>TTC p.V68F NM_020063 NP_064447 Q9NY43 BARH2_HUMAN BarH-like homeobox 2 68 nucleus sequence-specific DNA binding ovary(1) 1 all_lung(203;0.0263)|Lung SC(238;0.128) all cancers(265;0.000897)|Epithelial(280;0.00516)|OV - Ovarian serous cystadenocarcinoma(397;0.211) TCCATGGTGACTGAGATAGGA 0.542 NA 5 52 0.000602214 0.00105165 1 0 ZNF644 84146 broad.mit.edu 37 1 91404033 91404033 + Missense_Mutation SNP G G A TCGA-CV-6945-01A-11D-1912-08 TCGA-CV-6945-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fcfc9b74-5b8a-45b7-97ca-4e477e941e7c 0e82fe21-343e-4c8a-8b59-f1fd2261bebd g.chr1:91404033G>A uc001dnw.2 - 3 3020 c.2878C>T c.(2878-2880)CTT>TTT p.L960F ZNF644_uc001dnv.2_Intron|ZNF644_uc001dnx.2_Intron|ZNF644_uc001dny.1_Missense_Mutation_p.L960F NM_201269 NP_958357 Q9H582 ZN644_HUMAN zinc finger protein 644 isoform 1 960 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1)|breast(1)|skin(1) 3 all_lung(203;0.00206)|Lung NSC(277;0.0519)|Lung SC(238;0.101) all cancers(265;0.00102)|Epithelial(280;0.00766)|KIRC - Kidney renal clear cell carcinoma(1967;0.147)|OV - Ovarian serous cystadenocarcinoma(397;0.173) TTCTTCTCAAGAGACAAATCA 0.398 NA 13 47 0 0 0 0 AMY2B 280 broad.mit.edu 37 1 104115830 104115830 + Missense_Mutation SNP G G C TCGA-CV-6945-01A-11D-1912-08 TCGA-CV-6945-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fcfc9b74-5b8a-45b7-97ca-4e477e941e7c 0e82fe21-343e-4c8a-8b59-f1fd2261bebd g.chr1:104115830G>C uc001duq.2 + 5 1077 c.461G>C c.(460-462)GGT>GCT p.G154A AMY2B_uc010ouo.1_RNA|LOC648740_uc001dur.2_Missense_Mutation_p.G154A|AMY2B_uc001dus.1_5'Flank NM_020978 NP_066188 P19961 AMY2B_HUMAN amylase, pancreatic, alpha-2B precursor 154 carbohydrate metabolic process|digestion extracellular region alpha-amylase activity|metal ion binding 0 all_epithelial(167;3.05e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000451) Colorectal(144;0.0669)|all cancers(265;0.083)|Epithelial(280;0.094)|Lung(183;0.112) TTTAATGATGGTAAATGTAAA 0.408 NA 64 542 0 0 0 0 GJA8 2703 broad.mit.edu 37 1 147381094 147381095 + Missense_Mutation DNP GC GC AA TCGA-CV-6945-01A-11D-1912-08 TCGA-CV-6945-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fcfc9b74-5b8a-45b7-97ca-4e477e941e7c 0e82fe21-343e-4c8a-8b59-f1fd2261bebd g.chr1:147381094_147381095GC>AA uc001epu.1 + 2 1075_1076 c.1012_1013GC>AA c.(1012-1014)GCA>AAA p.A338K NM_005267 NP_005258 P48165 CXA8_HUMAN connexin 50 338 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) GGGGCCGCCTGCAGAGGAGGGA 0.653 NA 4 5 0 0 0 0 IQGAP3 128239 broad.mit.edu 37 1 156518471 156518471 + Nonsense_Mutation SNP A A T TCGA-CV-6945-01A-11D-1912-08 TCGA-CV-6945-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fcfc9b74-5b8a-45b7-97ca-4e477e941e7c 0e82fe21-343e-4c8a-8b59-f1fd2261bebd g.chr1:156518471A>T uc001fpf.2 - 17 1970 c.1895T>A c.(1894-1896)TTG>TAG p.L632* NM_178229 NP_839943 Q86VI3 IQGA3_HUMAN IQ motif containing GTPase activating protein 3 632 small GTPase mediated signal transduction intracellular calmodulin binding|Ras GTPase activator activity ovary(5)|skin(1) 6 all_hematologic(923;0.088)|Hepatocellular(266;0.158) GGGGTTCCTCAACACCCGCTC 0.597 NA 11 48 0 0 0 0 CCDC19 25790 broad.mit.edu 37 1 159842919 159842919 + Silent SNP C C T TCGA-CV-6945-01A-11D-1912-08 TCGA-CV-6945-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fcfc9b74-5b8a-45b7-97ca-4e477e941e7c 0e82fe21-343e-4c8a-8b59-f1fd2261bebd g.chr1:159842919C>T uc001fui.2 - 11 1410 c.1392G>A c.(1390-1392)GAG>GAA p.E464E CCDC19_uc009wtb.2_RNA|CCDC19_uc001fuj.2_RNA|CCDC19_uc001fuk.2_Silent_p.E379E|CCDC19_uc001ful.2_Silent_p.E379E NM_012337 NP_036469 Q9UL16 CCD19_HUMAN nasopharyngeal epithelium specific protein 1 464 Potential. mitochondrion|soluble fraction ovary(1) 1 all_hematologic(112;0.0597) BRCA - Breast invasive adenocarcinoma(70;0.151) CCTTTTTCTCCTCCTCCAGCC 0.587 NA 16 31 0 0 0 0 RABIF 5877 broad.mit.edu 37 1 202850116 202850116 + Missense_Mutation SNP G G A TCGA-CV-6945-01A-11D-1912-08 TCGA-CV-6945-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fcfc9b74-5b8a-45b7-97ca-4e477e941e7c 0e82fe21-343e-4c8a-8b59-f1fd2261bebd g.chr1:202850116G>A uc001gyl.2 - 2 399 c.362C>T c.(361-363)TCC>TTC p.S121F NM_002871 NP_002862 P47224 MSS4_HUMAN RAB-interacting factor 121 cellular membrane fusion|protein transport|small GTPase mediated signal transduction guanyl-nucleotide exchange factor activity|zinc ion binding 0 BRCA - Breast invasive adenocarcinoma(75;0.166) TTACTCATGGGAAACTCGTTC 0.478 NA 18 81 0 0 0 0 KMO 8564 broad.mit.edu 37 1 241729888 241729888 + Missense_Mutation SNP C C T TCGA-CV-6945-01A-11D-1912-08 TCGA-CV-6945-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fcfc9b74-5b8a-45b7-97ca-4e477e941e7c 0e82fe21-343e-4c8a-8b59-f1fd2261bebd g.chr1:241729888C>T uc009xgp.2 + 9 850 c.785C>T c.(784-786)CCG>CTG p.P262L KMO_uc001hyy.2_Missense_Mutation_p.P262L|KMO_uc009xgo.1_Missense_Mutation_p.P262L NM_003679 NP_003670 O15229 KMO_HUMAN kynurenine 3-monooxygenase 262 pyridine nucleotide biosynthetic process|response to salt stress cytosol|integral to membrane|mitochondrial outer membrane electron carrier activity|flavin adenine dinucleotide binding|kynurenine 3-monooxygenase activity|NAD(P)H oxidase activity ovary(2) 2 Ovarian(103;0.103)|all_lung(81;0.23) OV - Ovarian serous cystadenocarcinoma(106;0.0176) AAATACTTTCCGGATGCCATC 0.353 NA 10 69 0 0 0 0 OR2M3 127062 broad.mit.edu 37 1 248366497 248366497 + Missense_Mutation SNP C C G TCGA-CV-6945-01A-11D-1912-08 TCGA-CV-6945-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fcfc9b74-5b8a-45b7-97ca-4e477e941e7c 0e82fe21-343e-4c8a-8b59-f1fd2261bebd g.chr1:248366497C>G uc010pzg.1 + 1 128 c.128C>G c.(127-129)TCT>TGT p.S43C NM_001004689 NP_001004689 Q8NG83 OR2M3_HUMAN olfactory receptor, family 2, subfamily M, 43 Helical; Name=1; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|skin(1) 2 all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0245) ATGGGAAACTCTGTCATGGTT 0.547 NA 80 210 0 0 0 0 FBXO18 84893 broad.mit.edu 37 10 5948284 5948284 + Missense_Mutation SNP C C T TCGA-CV-6945-01A-11D-1912-08 TCGA-CV-6945-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fcfc9b74-5b8a-45b7-97ca-4e477e941e7c 0e82fe21-343e-4c8a-8b59-f1fd2261bebd g.chr10:5948284C>T uc001iis.2 + 3 537 c.442C>T c.(442-444)CCA>TCA p.P148S FBXO18_uc001iir.2_Missense_Mutation_p.P74S|FBXO18_uc009xig.2_Missense_Mutation_p.P74S|FBXO18_uc001iit.2_Missense_Mutation_p.P199S NM_178150 NP_835363 Q8NFZ0 FBX18_HUMAN F-box only protein, helicase, 18 isoform 2 148 F-box. DNA repair nucleus ATP binding|ATP-dependent DNA helicase activity|DNA binding ovary(2)|skin(1) 3 TAAGAAAGCTCCACGGCACCA 0.597 NA 5 35 0 0 0 0 ITGA8 8516 broad.mit.edu 37 10 15760779 15760779 + Missense_Mutation SNP G G T TCGA-CV-6945-01A-11D-1912-08 TCGA-CV-6945-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fcfc9b74-5b8a-45b7-97ca-4e477e941e7c 0e82fe21-343e-4c8a-8b59-f1fd2261bebd g.chr10:15760779G>T uc001ioc.1 - 2 329 c.329C>A c.(328-330)CCG>CAG p.P110Q ITGA8_uc010qcb.1_Missense_Mutation_p.P110Q NM_003638 NP_003629 P53708 ITA8_HUMAN integrin, alpha 8 precursor 110 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 GGTGTCAAACGGTATCTGCCT 0.597 NA 36 78 4.32e-19 9.08e-19 1 0 CUBN 8029 broad.mit.edu 37 10 16918894 16918894 + Splice_Site SNP A A T TCGA-CV-6945-01A-11D-1912-08 TCGA-CV-6945-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fcfc9b74-5b8a-45b7-97ca-4e477e941e7c 0e82fe21-343e-4c8a-8b59-f1fd2261bebd g.chr10:16918894A>T uc001ioo.2 - 57 9158 c.9106_splice c.e57+1 p.S3036_splice CUBN_uc009xjq.1_Splice_Site|CUBN_uc009xjr.1_Splice_Site_p.S392_splice NM_001081 NP_001072 O60494 CUBN_HUMAN cubilin precursor cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity ovary(9)|breast(4)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)|kidney(1) 19 Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200) ATGGCTACTCACAGATTATCC 0.418 NA 10 53 0 0 0 0 ZNF365 22891 broad.mit.edu 37 10 64159517 64159517 + Missense_Mutation SNP A A G TCGA-CV-6945-01A-11D-1912-08 TCGA-CV-6945-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fcfc9b74-5b8a-45b7-97ca-4e477e941e7c 0e82fe21-343e-4c8a-8b59-f1fd2261bebd g.chr10:64159517A>G uc001jly.3 + 5 1300 c.1238A>G c.(1237-1239)AAA>AGA p.K413R ZNF365_uc001jmb.3_Intron|ZNF365_uc001jmc.2_Intron|ZNF365_uc001jlz.3_Missense_Mutation_p.K398R|ZNF365_uc001jma.3_RNA NM_014951 NP_055766 Q70YC4 TALAN_HUMAN zinc finger protein 365 isoform A Error:Variant_position_missing_in_Q70YC4_after_alignment ovary(1)|skin(1) 2 Prostate(12;0.0297)|all_hematologic(501;0.228) ATGGCTAAAAAAAAGCCAACA 0.517 NA 9 35 0 0 0 0 TBC1D12 23232 broad.mit.edu 37 10 96162460 96162460 + Silent SNP G G A TCGA-CV-6945-01A-11D-1912-08 TCGA-CV-6945-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fcfc9b74-5b8a-45b7-97ca-4e477e941e7c 0e82fe21-343e-4c8a-8b59-f1fd2261bebd g.chr10:96162460G>A uc001kjr.2 + 1 275 c.90G>A c.(88-90)AGG>AGA p.R30R NM_015188 NP_056003 O60347 TBC12_HUMAN TBC1 domain family, member 12 30 intracellular Rab GTPase activator activity 0 Colorectal(252;0.0429) GCCAGGACAGGAAGGTAATCC 0.562 NA 3 5 0 0 0 0 GLRX3 10539 broad.mit.edu 37 10 131973264 131973264 + Missense_Mutation SNP C C T TCGA-CV-6945-01A-11D-1912-08 TCGA-CV-6945-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fcfc9b74-5b8a-45b7-97ca-4e477e941e7c 0e82fe21-343e-4c8a-8b59-f1fd2261bebd g.chr10:131973264C>T uc001lkm.1 + 10 890 c.868C>T c.(868-870)CGG>TGG p.R290W GLRX3_uc001lkn.1_Missense_Mutation_p.R290W|GLRX3_uc001lko.2_RNA NM_006541 NP_006532 O76003 GLRX3_HUMAN glutaredoxin 3 290 Glutaredoxin 2. cell redox homeostasis|negative regulation of cardiac muscle hypertrophy|regulation of the force of heart contraction cell cortex electron carrier activity|iron-sulfur cluster binding|metal ion binding|protein disulfide oxidoreductase activity 0 all_cancers(35;9.59e-07)|all_epithelial(44;1.48e-06)|Lung NSC(174;0.00566)|all_lung(145;0.00949)|Colorectal(57;0.142)|all_neural(114;0.16)|Breast(234;0.173)|Glioma(114;0.222) OV - Ovarian serous cystadenocarcinoma(35;0.00218) TCTTTAGGTTCGGCAAGGATT 0.428 NA 10 53 0 0 0 0 DPYSL4 10570 broad.mit.edu 37 10 134014379 134014379 + Silent SNP C C T TCGA-CV-6945-01A-11D-1912-08 TCGA-CV-6945-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fcfc9b74-5b8a-45b7-97ca-4e477e941e7c 0e82fe21-343e-4c8a-8b59-f1fd2261bebd g.chr10:134014379C>T uc009ybb.2 + 10 1156 c.1002C>T c.(1000-1002)TGC>TGT p.C334C NM_006426 NP_006417 O14531 DPYL4_HUMAN dihydropyrimidinase-like 4 334 axon guidance|pyrimidine base catabolic process cytosol hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides central_nervous_system(2) 2 all_cancers(35;4.33e-08)|all_epithelial(44;6.75e-06)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)|Colorectal(31;0.19) OV - Ovarian serous cystadenocarcinoma(35;7.21e-05)|Epithelial(32;8.01e-05)|all cancers(32;9.29e-05)|BRCA - Breast invasive adenocarcinoma(275;0.206) GCGCCCACTGCACCTTCACCA 0.647 NA 6 15 0 0 0 0 OR5A2 219981 broad.mit.edu 37 11 59190241 59190241 + Silent SNP G G A TCGA-CV-6945-01A-11D-1912-08 TCGA-CV-6945-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fcfc9b74-5b8a-45b7-97ca-4e477e941e7c 0e82fe21-343e-4c8a-8b59-f1fd2261bebd g.chr11:59190241G>A uc010rkt.1 - 1 186 c.186C>T c.(184-186)TTC>TTT p.F62F NM_001001954 NP_001001954 Q8NGI9 OR5A2_HUMAN olfactory receptor, family 5, subfamily A, 62 Helical; Name=2; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 TACTGAGGAAGAAGTACATGG 0.493 NA 21 70 0 0 0 0 OR5A1 219982 broad.mit.edu 37 11 59211053 59211053 + Missense_Mutation SNP A A G TCGA-CV-6945-01A-11D-1912-08 TCGA-CV-6945-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fcfc9b74-5b8a-45b7-97ca-4e477e941e7c 0e82fe21-343e-4c8a-8b59-f1fd2261bebd g.chr11:59211053A>G uc001nnx.1 + 1 412 c.412A>G c.(412-414)ATC>GTC p.I138V NM_001004728 NP_001004728 Q8NGJ0 OR5A1_HUMAN olfactory receptor, family 5, subfamily A, 138 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|central_nervous_system(1) 2 CTACCCCACTATCATGACCCA 0.542 NA 35 292 0 0 0 0 NPAS4 266743 broad.mit.edu 37 11 66192686 66192686 + Silent SNP G G A TCGA-CV-6945-01A-11D-1912-08 TCGA-CV-6945-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fcfc9b74-5b8a-45b7-97ca-4e477e941e7c 0e82fe21-343e-4c8a-8b59-f1fd2261bebd g.chr11:66192686G>A uc001ohx.1 + 7 2501 c.2325G>A c.(2323-2325)GGG>GGA p.G775G NPAS4_uc010rpc.1_Silent_p.G565G NM_178864 NP_849195 Q8IUM7 NPAS4_HUMAN neuronal PAS domain protein 4 775 transcription, DNA-dependent DNA binding|signal transducer activity 0 CCTATGATGGGTTTACTGATG 0.398 NA 18 42 0 0 0 0 B3GAT1 27087 broad.mit.edu 37 11 134253871 134253871 + Silent SNP C C T TCGA-CV-6945-01A-11D-1912-08 TCGA-CV-6945-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fcfc9b74-5b8a-45b7-97ca-4e477e941e7c 0e82fe21-343e-4c8a-8b59-f1fd2261bebd g.chr11:134253871C>T uc001qhq.2 - 4 585 c.324G>A c.(322-324)ACG>ACA p.T108T B3GAT1_uc001qhr.2_Silent_p.T108T|B3GAT1_uc010scv.1_Silent_p.T121T NM_018644 NP_061114 Q9P2W7 B3GA1_HUMAN beta-1,3-glucuronyltransferase 1 108 Lumenal (Potential). carbohydrate metabolic process Golgi membrane|integral to membrane galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase activity|metal ion binding ovary(1) 1 all_hematologic(175;0.127) all_cancers(12;1.39e-23)|all_epithelial(12;7.17e-17)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000162)|Medulloblastoma(222;0.0125)|all_neural(223;0.0137)|Esophageal squamous(93;0.0559) Epithelial(10;2.58e-11)|all cancers(11;5.75e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.000879)|Lung(977;0.0864) CGTGCAGCAGCGTGTTGGCCA 0.716 NA 10 7 0 0 0 0 USP5 8078 broad.mit.edu 37 12 6970679 6970679 + Missense_Mutation SNP G G A TCGA-CV-6945-01A-11D-1912-08 TCGA-CV-6945-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fcfc9b74-5b8a-45b7-97ca-4e477e941e7c 0e82fe21-343e-4c8a-8b59-f1fd2261bebd g.chr12:6970679G>A uc001qri.3 + 13 1630 c.1571G>A c.(1570-1572)CGG>CAG p.R524Q USP5_uc001qrh.3_Missense_Mutation_p.R524Q NM_001098536 NP_001092006 P45974 UBP5_HUMAN ubiquitin specific peptidase 5 isoform 1 524 positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process lysosome cysteine-type endopeptidase activity|omega peptidase activity|protein binding|ubiquitin thiolesterase activity|zinc ion binding lung(2)|breast(1)|skin(1) 4 GAACTGGTTCGGGCCCAGGTG 0.607 NA 51 67 0 0 0 0 ATN1 1822 broad.mit.edu 37 12 7046365 7046365 + Silent SNP C C G TCGA-CV-6945-01A-11D-1912-08 TCGA-CV-6945-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fcfc9b74-5b8a-45b7-97ca-4e477e941e7c 0e82fe21-343e-4c8a-8b59-f1fd2261bebd g.chr12:7046365C>G uc001qrw.1 + 5 2172 c.1935C>G c.(1933-1935)TCC>TCG p.S645S ATN1_uc001qrx.1_Silent_p.S645S NM_001007026 NP_001007027 P54259 ATN1_HUMAN atrophin-1 645 cell death|central nervous system development cytoplasm|nucleus protein domain specific binding ovary(2)|breast(2)|pancreas(1)|skin(1) 6 GAGCCCCGTCCCCGGGGGCCT 0.672 NA 12 47 0 0 0 0 SLC2A14 144195 broad.mit.edu 37 12 7973851 7973851 + Missense_Mutation SNP G G A TCGA-CV-6945-01A-11D-1912-08 TCGA-CV-6945-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fcfc9b74-5b8a-45b7-97ca-4e477e941e7c 0e82fe21-343e-4c8a-8b59-f1fd2261bebd g.chr12:7973851G>A uc001qtk.2 - 13 1797 c.1004C>T c.(1003-1005)GCG>GTG p.A335V SLC2A14_uc001qtl.2_Missense_Mutation_p.A312V|SLC2A14_uc001qtm.2_Missense_Mutation_p.A312V|SLC2A14_uc010sgg.1_Missense_Mutation_p.A226V|SLC2A14_uc001qtn.2_Missense_Mutation_p.A335V|SLC2A14_uc001qto.2_5'UTR|SLC2A14_uc010sgh.1_Missense_Mutation_p.A350V NM_153449 NP_703150 Q8TDB8 GTR14_HUMAN glucose transporter 14 335 Helical; Name=8; (Potential). cell differentiation|multicellular organismal development|spermatogenesis integral to membrane glucose transmembrane transporter activity ovary(1) 1 Kidney(36;0.0883) AACCACACCCGCGCTGATGGT 0.413 NA 43 122 0 0 0 0 SLCO1B3 28234 broad.mit.edu 37 12 21069131 21069131 + Missense_Mutation SNP G G C TCGA-CV-6945-01A-11D-1912-08 TCGA-CV-6945-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fcfc9b74-5b8a-45b7-97ca-4e477e941e7c 0e82fe21-343e-4c8a-8b59-f1fd2261bebd g.chr12:21069131G>C uc001rek.2 + 15 2185 c.2059G>C c.(2059-2061)GAT>CAT p.D687H SLCO1B3_uc001rel.2_Missense_Mutation_p.D687H|SLCO1B3_uc010sil.1_Intron|LST-3TM12_uc010sim.1_Intron NM_019844 NP_062818 Q9NPD5 SO1B3_HUMAN solute carrier organic anion transporter family, 687 Cytoplasmic (Potential). bile acid metabolic process|sodium-independent organic anion transport basolateral plasma membrane|cytoplasm|integral to plasma membrane bile acid transmembrane transporter activity|organic anion transmembrane transporter activity large_intestine(2)|ovary(1)|skin(1) 4 Esophageal squamous(101;0.149) TGCTGGAACAGATAGTAAAAC 0.348 NA 19 34 0 0 0 0 ABCC9 10060 broad.mit.edu 37 12 21958120 21958120 + Missense_Mutation SNP C C A TCGA-CV-6945-01A-11D-1912-08 TCGA-CV-6945-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fcfc9b74-5b8a-45b7-97ca-4e477e941e7c 0e82fe21-343e-4c8a-8b59-f1fd2261bebd g.chr12:21958120C>A uc001rfi.1 - 38 4658 c.4638G>T c.(4636-4638)ATG>ATT p.M1546I ABCC9_uc001rfh.2_Intron|ABCC9_uc001rfj.1_Missense_Mutation_p.M1510I|ABCC9_uc001rfg.2_Intron NM_005691 NP_005682 O60706 ABCC9_HUMAN ATP-binding cassette, sub-family C, member 9 1546 Cytoplasmic (Potential).|ABC transporter 2. defense response to virus|potassium ion import ATP-sensitive potassium channel complex ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity p.R1546H(1) ovary(4)|skin(2) 6 Adenosine triphosphate(DB00171)|Glibenclamide(DB01016) ACTTGTTGGTCATCACCAAAG 0.438 NA 25 56 4.27e-12 8.65e-12 1 0 SLC4A8 9498 broad.mit.edu 37 12 51853842 51853842 + Silent SNP G G T TCGA-CV-6945-01A-11D-1912-08 TCGA-CV-6945-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fcfc9b74-5b8a-45b7-97ca-4e477e941e7c 0e82fe21-343e-4c8a-8b59-f1fd2261bebd g.chr12:51853842G>T uc001rys.1 + 8 1141 c.963G>T c.(961-963)CTG>CTT p.L321L SLC4A8_uc010sni.1_Silent_p.L268L|SLC4A8_uc001rym.2_Silent_p.L268L|SLC4A8_uc001ryn.2_Silent_p.L268L|SLC4A8_uc001ryo.2_Silent_p.L268L|SLC4A8_uc001ryp.1_Silent_p.L268L|SLC4A8_uc010snj.1_Silent_p.L348L|SLC4A8_uc001ryq.3_Silent_p.L321L|SLC4A8_uc001ryr.2_Silent_p.L321L|SLC4A8_uc010snk.1_Silent_p.L268L NM_001039960 NP_001035049 Q2Y0W8 S4A8_HUMAN solute carrier family 4, sodium bicarbonate 321 Extracellular (Potential). bicarbonate transport|sodium ion transport integral to membrane|plasma membrane inorganic anion exchanger activity ovary(3)|pancreas(1)|skin(1) 5 BRCA - Breast invasive adenocarcinoma(357;0.15) TTGTGAGGCTGTCTCCAGCTG 0.438 NA 36 179 6.03e-27 1.29e-26 1 0 KRT83 3889 broad.mit.edu 37 12 52709747 52709747 + Missense_Mutation SNP T T A TCGA-CV-6945-01A-11D-1912-08 TCGA-CV-6945-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fcfc9b74-5b8a-45b7-97ca-4e477e941e7c 0e82fe21-343e-4c8a-8b59-f1fd2261bebd g.chr12:52709747T>A uc001saf.2 - 7 1255 c.1192A>T c.(1192-1194)ATG>TTG p.M398L NM_002282 NP_002273 P78385 KRT83_HUMAN keratin 83 398 Rod.|Coil 2. epidermis development keratin filament structural molecule activity skin(1) 1 Myeloproliferative disorder(4;0.0484)|all_hematologic(5;0.088) BRCA - Breast invasive adenocarcinoma(357;0.189) TTGGAGTTCATCACCTCCTGG 0.637 NA 20 95 0 0 0 0 LRP1 4035 broad.mit.edu 37 12 57532268 57532268 + Missense_Mutation SNP T T C TCGA-CV-6945-01A-11D-1912-08 TCGA-CV-6945-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fcfc9b74-5b8a-45b7-97ca-4e477e941e7c 0e82fe21-343e-4c8a-8b59-f1fd2261bebd g.chr12:57532268T>C uc001snd.2 + 2 560 c.94T>C c.(94-96)TTT>CTT p.F32L LRP1_uc010sre.1_Missense_Mutation_p.F32L|LRP1_uc001snb.2_Missense_Mutation_p.F32L|LRP1_uc001snc.1_Missense_Mutation_p.F32L NM_002332 NP_002323 Q07954 LRP1_HUMAN low density lipoprotein-related protein 1 32 LDL-receptor class A 1.|Extracellular (Potential). aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity coated pit|integral to plasma membrane|nucleus apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity ovary(8)|lung(3)|breast(3)|large_intestine(2)|central_nervous_system(2)|skin(2)|pancreas(2) 22 BRCA - Breast invasive adenocarcinoma(357;0.0103) Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031) CCCCAAGCAGTTTGCCTGCAG 0.527 NA 28 126 0 0 0 0 NR1H4 9971 broad.mit.edu 37 12 100955674 100955674 + Nonsense_Mutation SNP G G T TCGA-CV-6945-01A-11D-1912-08 TCGA-CV-6945-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fcfc9b74-5b8a-45b7-97ca-4e477e941e7c 0e82fe21-343e-4c8a-8b59-f1fd2261bebd g.chr12:100955674G>T uc001tht.1 + 8 1148 c.1120G>T c.(1120-1122)GAA>TAA p.E374* NR1H4_uc001thp.1_Nonsense_Mutation_p.E360*|NR1H4_uc001thq.1_Nonsense_Mutation_p.E364*|NR1H4_uc010svj.1_RNA|NR1H4_uc001thr.1_Nonsense_Mutation_p.E364*|NR1H4_uc010svk.1_Nonsense_Mutation_p.E313*|NR1H4_uc001ths.1_Nonsense_Mutation_p.E370* NM_005123 NP_005114 Q96RI1 NR1H4_HUMAN nuclear receptor subfamily 1, group H, member 4 374 Ligand-binding. bile acid metabolic process|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|thyroid hormone receptor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding ovary(1)|lung(1)|skin(1) 3 TATCTCTGATGAATATATAAC 0.333 NA 7 33 2.77e-08 5.29e-08 1 0 APPL2 55198 broad.mit.edu 37 12 105600878 105600878 + Missense_Mutation SNP C C T TCGA-CV-6945-01A-11D-1912-08 TCGA-CV-6945-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fcfc9b74-5b8a-45b7-97ca-4e477e941e7c 0e82fe21-343e-4c8a-8b59-f1fd2261bebd g.chr12:105600878C>T uc001tlf.1 - 8 800 c.582G>A c.(580-582)ATG>ATA p.M194I APPL2_uc010swt.1_Missense_Mutation_p.M151I|APPL2_uc001tlg.1_5'UTR|APPL2_uc010swu.1_Missense_Mutation_p.M200I|APPL2_uc009zuq.2_Missense_Mutation_p.M151I NM_018171 NP_060641 Q8NEU8 DP13B_HUMAN adaptor protein, phosphotyrosine interaction, PH 194 Required for RAB5A binding (By similarity). cell cycle|cell proliferation|signal transduction early endosome membrane|nucleus protein binding upper_aerodigestive_tract(1) 1 CCATCATGGCCATTTGCTTTC 0.597 NA 13 68 0 0 0 0 MYO1H 283446 broad.mit.edu 37 12 109849746 109849746 + Silent SNP G G C TCGA-CV-6945-01A-11D-1912-08 TCGA-CV-6945-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fcfc9b74-5b8a-45b7-97ca-4e477e941e7c 0e82fe21-343e-4c8a-8b59-f1fd2261bebd g.chr12:109849746G>C uc010sxn.1 + 13 1410 c.1410G>C c.(1408-1410)CTG>CTC p.L470L NM_001101421 NP_001094891 Q8N1T3 MYO1H_HUMAN myosin 1H Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment myosin complex motor activity 0 TGAGTTTCCTGGAGAAATTGG 0.433 NA 3 10 0 0 0 0 SDSL 113675 broad.mit.edu 37 12 113872019 113872019 + Silent SNP C C A TCGA-CV-6945-01A-11D-1912-08 TCGA-CV-6945-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fcfc9b74-5b8a-45b7-97ca-4e477e941e7c 0e82fe21-343e-4c8a-8b59-f1fd2261bebd g.chr12:113872019C>A uc001tvi.2 + 6 645 c.435C>A c.(433-435)CCC>CCA p.P145P SDSL_uc009zwh.2_Silent_p.P145P NM_138432 NP_612441 Q96GA7 SDSL_HUMAN serine dehydratase-like 145 cellular amino acid metabolic process L-serine ammonia-lyase activity|L-threonine ammonia-lyase activity|pyridoxal phosphate binding 0 Pyridoxal Phosphate(DB00114) TTGACCACCCCCTAATATGGT 0.423 NA 26 115 2.49e-11 4.97e-11 1 0 PITPNM2 57605 broad.mit.edu 37 12 123482024 123482024 + Silent SNP C C T TCGA-CV-6945-01A-11D-1912-08 TCGA-CV-6945-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fcfc9b74-5b8a-45b7-97ca-4e477e941e7c 0e82fe21-343e-4c8a-8b59-f1fd2261bebd g.chr12:123482024C>T uc001uej.1 - 10 1459 c.1320G>A c.(1318-1320)GGG>GGA p.G440G PITPNM2_uc001uek.1_Silent_p.G440G NM_020845 NP_065896 Q9BZ72 PITM2_HUMAN phosphatidylinositol transfer protein, 440 metabolic process|transport endomembrane system|integral to membrane|intracellular membrane-bounded organelle calcium ion binding|lipid binding ovary(1)|central_nervous_system(1)|skin(1) 3 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;2.55e-05)|Epithelial(86;8.43e-05)|BRCA - Breast invasive adenocarcinoma(302;0.123) AGCTGGGGTCCCCGGCGCCTG 0.662 NA 28 87 0 0 0 0 PXMP2 5827 broad.mit.edu 37 12 133266864 133266864 + Silent SNP A A T TCGA-CV-6945-01A-11D-1912-08 TCGA-CV-6945-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fcfc9b74-5b8a-45b7-97ca-4e477e941e7c 0e82fe21-343e-4c8a-8b59-f1fd2261bebd g.chr12:133266864A>T uc001ukt.2 + 2 203 c.138A>T c.(136-138)GCA>GCT p.A46A POLE_uc001uks.1_5'Flank|POLE_uc010tbq.1_5'Flank|POLE_uc009zyu.1_5'Flank|PGAM5_uc010tbr.1_RNA NM_018663 NP_061133 Q9NR77 PXMP2_HUMAN peroxisomal membrane protein 2, 22kDa 46 Helical; (Potential). integral to membrane|peroxisomal membrane protein binding 0 all_neural(191;0.0982)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;1.86e-08)|Epithelial(86;2.47e-07)|all cancers(50;6.85e-06) TTTTGTCAGCACTTGGGAACT 0.512 NA 17 72 0 0 0 0 FAM123A 219287 broad.mit.edu 37 13 25743972 25743972 + Missense_Mutation SNP G G T TCGA-CV-6945-01A-11D-1912-08 TCGA-CV-6945-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fcfc9b74-5b8a-45b7-97ca-4e477e941e7c 0e82fe21-343e-4c8a-8b59-f1fd2261bebd g.chr13:25743972G>T uc001uqb.2 - 1 1886 c.1786C>A c.(1786-1788)CTG>ATG p.L596M FAM123A_uc001uqa.2_Missense_Mutation_p.L477M|FAM123A_uc001uqc.2_Missense_Mutation_p.L477M NM_152704 NP_689917 Q8N7J2 F123A_HUMAN hypothetical protein LOC219287 isoform 1 596 ovary(2)|large_intestine(1)|lung(1) 4 Lung SC(185;0.0225)|Breast(139;0.0602) all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241) GGTGTTCGCAGTGGACAGGTG 0.572 NA 60 58 1.54e-20 3.24e-20 1 0 BRCA2 675 broad.mit.edu 37 13 32907432 32907432 + Missense_Mutation SNP C C T rs80358469 TCGA-CV-6945-01A-11D-1912-08 TCGA-CV-6945-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fcfc9b74-5b8a-45b7-97ca-4e477e941e7c 0e82fe21-343e-4c8a-8b59-f1fd2261bebd g.chr13:32907432C>T uc001uub.1 + 10 2044 c.1817C>T c.(1816-1818)CCG>CTG p.P606L BRCA2_uc001uua.1_Missense_Mutation_p.P483L NM_000059 NP_000050 P51587 BRCA2_HUMAN breast cancer 2, early onset 606 cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding ovary(20)|endometrium(8)|lung(7)|breast(7)|oesophagus(5)|large_intestine(4)|central_nervous_system(3)|pancreas(3)|skin(2)|upper_aerodigestive_tract(1)|cervix(1)|salivary_gland(1)|liver(1)|kidney(1) 64 Lung SC(185;0.0262) all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704) AAAAAAATACCGAAAGACCAA 0.318 NA D|Mis|N|F|S breast|ovarian|pancreatic breast|ovarian|pancreatic|leukemia (FANCB|FANCD1) Direct_reversal_of_damage|Homologous_recombination Fanconi_Anemia_type_D1_bi-allelic_BRCA2_mutations|Fanconi_Anemia|Pancreatic_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_BRCA2_type|Hereditary_Prostate_Cancer|Li-Fraumeni_syndrome TCGA Ovarian(8;0.087) 6 33 0 0 0 0 LMO7 4008 broad.mit.edu 37 13 76393647 76393647 + Missense_Mutation SNP C C T TCGA-CV-6945-01A-11D-1912-08 TCGA-CV-6945-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fcfc9b74-5b8a-45b7-97ca-4e477e941e7c 0e82fe21-343e-4c8a-8b59-f1fd2261bebd g.chr13:76393647C>T uc001vjv.2 + 10 2244 c.1484C>T c.(1483-1485)ACG>ATG p.T495M LMO7_uc010thv.1_Missense_Mutation_p.T446M|LMO7_uc001vjt.1_Missense_Mutation_p.T394M|LMO7_uc010thw.1_Missense_Mutation_p.T345M|LMO7_uc001vjw.1_Missense_Mutation_p.T401M NM_015842 NP_056667 Q8WWI1 LMO7_HUMAN LIM domain only 7 isoform 2 780 cytoplasm|nucleus|ubiquitin ligase complex ubiquitin-protein ligase activity|zinc ion binding large_intestine(2)|ovary(1)|prostate(1)|skin(1) 5 Breast(118;0.0992) GBM - Glioblastoma multiforme(99;0.0109) AGCTCTAAGACGTTTAAGGAA 0.388 NA 16 38 0 0 0 0 SCEL 8796 broad.mit.edu 37 13 78183252 78183252 + Missense_Mutation SNP G G T TCGA-CV-6945-01A-11D-1912-08 TCGA-CV-6945-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fcfc9b74-5b8a-45b7-97ca-4e477e941e7c 0e82fe21-343e-4c8a-8b59-f1fd2261bebd g.chr13:78183252G>T uc001vki.2 + 21 1447 c.1277G>T c.(1276-1278)GGG>GTG p.G426V SCEL_uc001vkj.2_Missense_Mutation_p.G406V|SCEL_uc010thx.1_Missense_Mutation_p.G384V NM_144777 NP_659001 O95171 SCEL_HUMAN sciellin isoform 1 426 9.|16 X approximate tandem repeats. embryo development|keratinocyte differentiation cornified envelope|cytoplasm|membrane protein binding|zinc ion binding ovary(4)|breast(1) 5 Acute lymphoblastic leukemia(28;0.0282)|Breast(118;0.037) GBM - Glioblastoma multiforme(99;0.0233) AGTACTGAAGGGTAAGATTTA 0.313 NA 10 17 1.59e-06 2.94e-06 1 0 FGF14 2259 broad.mit.edu 37 13 102375271 102375271 + Silent SNP G G C TCGA-CV-6945-01A-11D-1912-08 TCGA-CV-6945-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fcfc9b74-5b8a-45b7-97ca-4e477e941e7c 0e82fe21-343e-4c8a-8b59-f1fd2261bebd g.chr13:102375271G>C uc001vpe.2 - 5 654 c.654C>G c.(652-654)GTC>GTG p.V218V FGF14_uc001vpf.2_Silent_p.V223V|FGF14_uc001vpd.1_5'Flank NM_004115 NP_004106 Q92915 FGF14_HUMAN fibroblast growth factor 14 isoform 1A 218 cell death|cell-cell signaling|JNK cascade|nervous system development|signal transduction nucleus growth factor activity|heparin binding ovary(2)|lung(1)|large_intestine(1) 4 all_neural(89;0.0239)|Medulloblastoma(90;0.163)|Lung SC(71;0.184) CAGGCTTCGGGACCGTTTCCC 0.478 NA 45 41 0 0 0 0 TOX4 9878 broad.mit.edu 37 14 21957421 21957421 + Silent SNP T T C TCGA-CV-6945-01A-11D-1912-08 TCGA-CV-6945-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fcfc9b74-5b8a-45b7-97ca-4e477e941e7c 0e82fe21-343e-4c8a-8b59-f1fd2261bebd g.chr14:21957421T>C uc001waz.2 + 5 772 c.669T>C c.(667-669)CCT>CCC p.P223P TOX4_uc001way.2_Silent_p.P93P|TOX4_uc001wba.2_RNA|TOX4_uc010tlu.1_Silent_p.P200P|TOX4_uc010tlv.1_Silent_p.P93P NM_014828 NP_055643 O94842 TOX4_HUMAN epidermal Langerhans cell protein LCP1 223 HMG box. chromatin|nucleus|PTW/PP1 phosphatase complex DNA binding|protein binding ovary(1) 1 all_cancers(95;0.000465) Epithelial(56;6.61e-06)|all cancers(55;5.15e-05) GBM - Glioblastoma multiforme(265;0.0149) CTAATGAACCTCAGAAACCAG 0.443 NA 58 72 0 0 0 0 KCNH5 27133 broad.mit.edu 37 14 63246619 63246619 + Missense_Mutation SNP T T A TCGA-CV-6945-01A-11D-1912-08 TCGA-CV-6945-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fcfc9b74-5b8a-45b7-97ca-4e477e941e7c 0e82fe21-343e-4c8a-8b59-f1fd2261bebd g.chr14:63246619T>A uc001xfx.2 - 10 1897 c.1846A>T c.(1846-1848)ATC>TTC p.I616F KCNH5_uc001xfy.2_Intron|KCNH5_uc001xfz.1_Missense_Mutation_p.I558F NM_139318 NP_647479 Q8NCM2 KCNH5_HUMAN potassium voltage-gated channel, subfamily H, 616 cNMP.|Cytoplasmic (Potential). regulation of transcription, DNA-dependent integral to membrane calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity ovary(4)|skin(4)|central_nervous_system(1) 9 OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168) TTCCAGAAGATGTCTCCAAAT 0.423 NA 14 31 0 0 0 0 AKAP5 9495 broad.mit.edu 37 14 64936395 64936395 + Nonstop_Mutation SNP G G C TCGA-CV-6945-01A-11D-1912-08 TCGA-CV-6945-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fcfc9b74-5b8a-45b7-97ca-4e477e941e7c 0e82fe21-343e-4c8a-8b59-f1fd2261bebd g.chr14:64936395G>C uc001xhd.3 + 2 1661 c.1283G>C c.(1282-1284)TGA>TCA p.*428S ZBTB25_uc001xhc.2_Intron NM_004857 NP_004848 P24588 AKAP5_HUMAN A-kinase anchor protein 5 428 energy reserve metabolic process|positive regulation of cAMP biosynthetic process|positive regulation of protein kinase A signaling cascade|protein targeting|regulation of insulin secretion|signal transduction|synaptic transmission cytosol adenylate cyclase binding|calmodulin binding 0 all cancers(60;0.00749)|OV - Ovarian serous cystadenocarcinoma(108;0.0095)|BRCA - Breast invasive adenocarcinoma(234;0.0449) CTTCTACAGTGACTTACTCTC 0.343 NA 11 65 0 0 0 0 YLPM1 56252 broad.mit.edu 37 14 75264441 75264441 + Missense_Mutation SNP G G A TCGA-CV-6945-01A-11D-1912-08 TCGA-CV-6945-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fcfc9b74-5b8a-45b7-97ca-4e477e941e7c 0e82fe21-343e-4c8a-8b59-f1fd2261bebd g.chr14:75264441G>A uc001xqj.3 + 5 2565 c.2441G>A c.(2440-2442)CGG>CAG p.R814Q YLPM1_uc001xql.3_RNA NM_019589 NP_062535 P49750 YLPM1_HUMAN YLP motif containing 1 619 regulation of transcription, DNA-dependent|transcription, DNA-dependent nuclear speck ovary(2)|pancreas(1) 3 KIRC - Kidney renal clear cell carcinoma(43;0.238) BRCA - Breast invasive adenocarcinoma(234;0.00162) ATGATTCCCCGGGGGCCAGCA 0.532 NA 11 36 0 0 0 0 HERC2 8924 broad.mit.edu 37 15 28491924 28491924 + Missense_Mutation SNP C C T TCGA-CV-6945-01A-11D-1912-08 TCGA-CV-6945-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fcfc9b74-5b8a-45b7-97ca-4e477e941e7c 0e82fe21-343e-4c8a-8b59-f1fd2261bebd g.chr15:28491924C>T uc001zbj.2 - 22 3461 c.3355G>A c.(3355-3357)GCG>ACG p.A1119T NM_004667 NP_004658 O95714 HERC2_HUMAN hect domain and RLD 2 1119 DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process nucleus guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding ovary(4)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|central_nervous_system(1) 13 all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227) all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199) GCCACCTCCGCGAAGTGCCGC 0.488 NA 14 47 0 0 0 0 VPS39 23339 broad.mit.edu 37 15 42470746 42470746 + Missense_Mutation SNP A A C TCGA-CV-6945-01A-11D-1912-08 TCGA-CV-6945-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fcfc9b74-5b8a-45b7-97ca-4e477e941e7c 0e82fe21-343e-4c8a-8b59-f1fd2261bebd g.chr15:42470746A>C uc001zpd.2 - 10 925 c.774T>G c.(772-774)ATT>ATG p.I258M VPS39_uc001zpc.2_Missense_Mutation_p.I247M NM_015289 NP_056104 Q96JC1 VPS39_HUMAN vacuolar protein sorting 39 258 CNH. protein transport HOPS complex|late endosome membrane|lysosomal membrane small GTPase regulator activity ovary(1)|pancreas(1)|skin(1) 3 all_cancers(109;6.78e-16)|all_epithelial(112;1.81e-14)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152) GBM - Glioblastoma multiforme(94;3.05e-06) GCAACACTGCAATGATGTAGG 0.478 NA 10 60 0 0 0 0 CATSPER2 117155 broad.mit.edu 37 15 43927557 43927557 + Splice_Site SNP C C G TCGA-CV-6945-01A-11D-1912-08 TCGA-CV-6945-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fcfc9b74-5b8a-45b7-97ca-4e477e941e7c 0e82fe21-343e-4c8a-8b59-f1fd2261bebd g.chr15:43927557C>G uc001zsh.2 - 10 1393 c.1178_splice c.e10+1 p.S393_splice STRC_uc010udz.1_5'Flank|CATSPER2_uc010bdm.2_Splice_Site|CATSPER2_uc001zsi.2_Splice_Site_p.R393_splice|CATSPER2_uc001zsj.2_Splice_Site_p.R393_splice NM_172095 NP_742093 Q96P56 CTSR2_HUMAN sperm-associated cation channel 2 isoform 2 cell differentiation|multicellular organismal development|spermatogenesis cilium|flagellar membrane|integral to membrane calcium channel activity|protein binding|voltage-gated ion channel activity ovary(1) 1 all_cancers(109;3.26e-15)|all_epithelial(112;1.48e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.027)|Colorectal(260;0.215) GBM - Glioblastoma multiforme(94;3.56e-07) ATACTCCTAACCTGTCCTCTA 0.358 NA OREG0003957 type=REGULATORY REGION|Gene=AK093318|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay 23 298 0 0 0 0 CYP1A2 1544 broad.mit.edu 37 15 75047386 75047386 + Missense_Mutation SNP G G T TCGA-CV-6945-01A-11D-1912-08 TCGA-CV-6945-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fcfc9b74-5b8a-45b7-97ca-4e477e941e7c 0e82fe21-343e-4c8a-8b59-f1fd2261bebd g.chr15:75047386G>T uc002ayr.1 + 7 1572 c.1508G>T c.(1507-1509)CGC>CTC p.R503L NM_000761 NP_000752 P05177 CP1A2_HUMAN cytochrome P450, family 1, subfamily A, 503 alkaloid metabolic process|exogenous drug catabolic process|methylation|monocarboxylic acid metabolic process|monoterpenoid metabolic process|oxidative deethylation|oxidative demethylation|steroid catabolic process|toxin biosynthetic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|caffeine oxidase activity|demethylase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding ovary(3)|breast(1) 4 Acenocoumarol(DB01418)|Acetaminophen(DB00316)|Aciclovir(DB00787)|Alosetron(DB00969)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Anagrelide(DB00261)|Azelastine(DB00972)|Bortezomib(DB00188)|Caffeine(DB00201)|Carmustine(DB00262)|Chlordiazepoxide(DB00475)|Chlorpromazine(DB00477)|Chlorzoxazone(DB00356)|Cimetidine(DB00501)|Cinacalcet(DB01012)|Ciprofloxacin(DB00537)|Clomipramine(DB01242)|Clotrimazole(DB00257)|Clozapine(DB00363)|Conjugated Estrogens(DB00286)|Cyclobenzaprine(DB00924)|Dacarbazine(DB00851)|Desloratadine(DB00967)|Diazepam(DB00829)|Dibucaine(DB00527)|Diclofenac(DB00586)|Duloxetine(DB00476)|Enoxacin(DB00467)|Esomeprazole(DB00736)|Estradiol(DB00783)|Estrone(DB00655)|Fluorouracil(DB00544)|Flutamide(DB00499)|Fluvoxamine(DB00176)|Frovatriptan(DB00998)|Grepafloxacin(DB00365)|Haloperidol(DB00502)|Hesperetin(DB01094)|Imipramine(DB00458)|Ketoconazole(DB01026)|Leflunomide(DB01097)|Levobupivacaine(DB01002)|Levofloxacin(DB01137)|Lidocaine(DB00281)|Lomefloxacin(DB00978)|Melatonin(DB01065)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mirtazapine(DB00370)|Norfloxacin(DB01059)|Nortriptyline(DB00540)|Ofloxacin(DB01165)|Olanzapine(DB00334)|Ondansetron(DB00904)|Palonosetron(DB00377)|Pantoprazole(DB00213)|Pefloxacin(DB00487)|Pimozide(DB01100)|Propafenone(DB01182)|Propranolol(DB00571)|Quinidine(DB00908)|Ramelteon(DB00980)|Ranitidine(DB00863)|Rasagiline(DB01367)|Rifampin(DB01045)|Riluzole(DB00740)|Rofecoxib(DB00533)|Ropinirole(DB00268)|Ropivacaine(DB00296)|Tacrine(DB00382)|Telithromycin(DB00976)|Terfenadine(DB00342)|Theophylline(DB00277)|Thiabendazole(DB00730)|Tizanidine(DB00697)|Tolbutamide(DB01124)|Verapamil(DB00661)|Warfarin(DB00682)|Zileuton(DB00744)|Zolmitriptan(DB00315) AAGCACGCCCGCTGTGAACAT 0.627 NA 7 34 0.00307968 0.00523619 1 0 PLK1 5347 broad.mit.edu 37 16 23700835 23700835 + Silent SNP C C T TCGA-CV-6945-01A-11D-1912-08 TCGA-CV-6945-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fcfc9b74-5b8a-45b7-97ca-4e477e941e7c 0e82fe21-343e-4c8a-8b59-f1fd2261bebd g.chr16:23700835C>T uc002dlz.1 + 9 1499 c.1446C>T c.(1444-1446)TTC>TTT p.F482F NM_005030 NP_005021 P53350 PLK1_HUMAN polo-like kinase 1 482 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|G2/M transition DNA damage checkpoint|G2/M transition of mitotic cell cycle|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic prophase|negative regulation of cyclin-dependent protein kinase activity|peptidyl-serine phosphorylation|positive regulation of peptidyl-threonine phosphorylation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein destabilization|protein localization to chromatin|protein ubiquitination|regulation of mitotic anaphase|regulation of protein binding centrosome|condensed nuclear chromosome outer kinetochore|cytosol|nucleoplasm|spindle microtubule|spindle midzone|spindle pole anaphase-promoting complex binding|ATP binding|polo kinase kinase activity|protein kinase binding lung(1)|skin(1) 2 GBM - Glioblastoma multiforme(48;0.0156) TTAAATATTTCCGCAATTACA 0.552 NA 34 66 0 0 0 0 RPGRIP1L 23322 broad.mit.edu 37 16 53675283 53675283 + Missense_Mutation SNP C C T TCGA-CV-6945-01A-11D-1912-08 TCGA-CV-6945-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fcfc9b74-5b8a-45b7-97ca-4e477e941e7c 0e82fe21-343e-4c8a-8b59-f1fd2261bebd g.chr16:53675283C>T uc002ehp.2 - 18 2852 c.2788G>A c.(2788-2790)GAA>AAA p.E930K RPGRIP1L_uc002eho.3_Missense_Mutation_p.E930K|RPGRIP1L_uc010vgy.1_Missense_Mutation_p.E930K|RPGRIP1L_uc010cbx.2_Missense_Mutation_p.E930K|RPGRIP1L_uc010vgz.1_Missense_Mutation_p.E930K NM_015272 NP_056087 Q68CZ1 FTM_HUMAN RPGRIP1-like isoform a 930 negative regulation of G-protein coupled receptor protein signaling pathway cell-cell junction|centrosome|cilium axoneme|microtubule basal body thromboxane A2 receptor binding ovary(1) 1 all_cancers(37;0.0973) CCTAAGTCTTCAGTTGTTATT 0.403 NA 19 47 0 0 0 0 PDPR 55066 broad.mit.edu 37 16 70164400 70164400 + Missense_Mutation SNP G G T TCGA-CV-6945-01A-11D-1912-08 TCGA-CV-6945-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fcfc9b74-5b8a-45b7-97ca-4e477e941e7c 0e82fe21-343e-4c8a-8b59-f1fd2261bebd g.chr16:70164400G>T uc002eyf.1 + 7 1639 c.682G>T c.(682-684)GAT>TAT p.D228Y CLEC18C_uc002exy.2_Intron|PDPR_uc010vlr.1_Missense_Mutation_p.D128Y|PDPR_uc002eyg.1_5'Flank NM_017990 NP_060460 Q8NCN5 PDPR_HUMAN pyruvate dehydrogenase phosphatase regulatory 228 glycine catabolic process|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate mitochondrial matrix aminomethyltransferase activity|oxidoreductase activity breast(1) 1 BRCA - Breast invasive adenocarcinoma(221;0.124) AGTGGAGACCGATAAAGGACA 0.423 NA 7 111 0.000274275 0.000483734 1 0 FTSJD1 55783 broad.mit.edu 37 16 71319208 71319208 + Missense_Mutation SNP T T A TCGA-CV-6945-01A-11D-1912-08 TCGA-CV-6945-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fcfc9b74-5b8a-45b7-97ca-4e477e941e7c 0e82fe21-343e-4c8a-8b59-f1fd2261bebd g.chr16:71319208T>A uc010cga.2 - 3 1022 c.616A>T c.(616-618)AAC>TAC p.N206Y FTSJD1_uc002ezy.3_Missense_Mutation_p.N206Y|FTSJD1_uc002ezz.3_Missense_Mutation_p.N206Y NM_001099642 NP_001093112 Q8IYT2 FTSJ1_HUMAN FtsJ methyltransferase domain containing 1 206 integral to membrane methyltransferase activity|nucleic acid binding skin(1) 1 TCACCAGTGTTATCTGGACCA 0.428 NA 20 60 0 0 0 0 CNTNAP4 85445 broad.mit.edu 37 16 76496003 76496003 + Splice_Site SNP G G A TCGA-CV-6945-01A-11D-1912-08 TCGA-CV-6945-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fcfc9b74-5b8a-45b7-97ca-4e477e941e7c 0e82fe21-343e-4c8a-8b59-f1fd2261bebd g.chr16:76496003G>A uc002feu.1 + 11 1868 c.1483_splice c.e11+1 p.G495_splice CNTNAP4_uc002fev.1_Splice_Site_p.G359_splice|CNTNAP4_uc010chb.1_Splice_Site_p.G422_splice|CNTNAP4_uc002fex.1_Splice_Site_p.G498_splice|CNTNAP4_uc002few.2_Splice_Site_p.G470_splice NM_033401 NP_207837 Q9C0A0 CNTP4_HUMAN cell recognition protein CASPR4 isoform 1 cell adhesion|signal transduction integral to membrane receptor binding ovary(1)|pancreas(1) 2 TATTTTGGAGGTAAGAATAGG 0.473 NA 8 25 0 0 0 0 TP53 7157 broad.mit.edu 37 17 7578271 7578271 + Missense_Mutation SNP T T A TCGA-CV-6945-01A-11D-1912-08 TCGA-CV-6945-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fcfc9b74-5b8a-45b7-97ca-4e477e941e7c 0e82fe21-343e-4c8a-8b59-f1fd2261bebd g.chr17:7578271T>A uc002gim.2 - 6 772 c.578A>T c.(577-579)CAT>CTT p.H193L TP53_uc002gig.1_Missense_Mutation_p.H193L|TP53_uc002gih.2_Missense_Mutation_p.H193L|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.H61L|TP53_uc010cng.1_Missense_Mutation_p.H61L|TP53_uc002gii.1_Missense_Mutation_p.H61L|TP53_uc010cnh.1_Missense_Mutation_p.H193L|TP53_uc010cni.1_Missense_Mutation_p.H193L|TP53_uc002gij.2_Missense_Mutation_p.H193L|TP53_uc010cnj.1_Intron|TP53_uc002gin.2_Missense_Mutation_p.H100L|TP53_uc002gio.2_Missense_Mutation_p.H61L|TP53_uc010vug.1_Missense_Mutation_p.H154L NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 193 Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity). H -> D (in sporadic cancers; somatic mutation).|H -> Q (in sporadic cancers; somatic mutation).|H -> Y (in sporadic cancers; somatic mutation).|QH -> HN (in a sporadic cancer; somatic mutation).|H -> N (in sporadic cancers; somatic mutation).|QH -> HY (in a sporadic cancer; somatic mutation).|H -> L (in sporadic cancers; somatic mutation).|H -> P (in sporadic cancers; somatic mutation).|H -> R (in LFS; germline mutation and in sporadic cancers; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.H193R(67)|p.H193L(31)|p.H193Y(26)|p.H193P(12)|p.0?(7)|p.H193D(7)|p.H193N(4)|p.A189_V197delAPPQHLIRV(4)|p.H193fs*16(3)|p.H193H(2)|p.P191fs*53(2)|p.K164_P219del(1)|p.P191fs*15(1)|p.P191fs*6(1)|p.H100L(1)|p.H61L(1)|p.H193_I195delHLI(1)|p.H193_I195>AP(1)|p.A189fs*53(1) large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1) 22245 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) TCGGATAAGATGCTGAGGAGG 0.562 111 Mis|N|F breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types Other_conserved_DNA_damage_response_genes Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 29 19 0 0 0 0 MPRIP 23164 broad.mit.edu 37 17 17078662 17078662 + Missense_Mutation SNP G G A TCGA-CV-6945-01A-11D-1912-08 TCGA-CV-6945-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fcfc9b74-5b8a-45b7-97ca-4e477e941e7c 0e82fe21-343e-4c8a-8b59-f1fd2261bebd g.chr17:17078662G>A uc002gqu.1 + 19 2701 c.2645G>A c.(2644-2646)GGG>GAG p.G882E MPRIP_uc002gqv.1_Missense_Mutation_p.G882E|MPRIP_uc002gqw.1_Missense_Mutation_p.G637E|MPRIP_uc002gqx.1_Missense_Mutation_p.G1111E|MPRIP_uc002gqy.1_Missense_Mutation_p.G1111E|MPRIP_uc010cpl.1_Intron|MPRIP_uc010cpm.1_Intron NM_201274 NP_958431 Q6WCQ1 MPRIP_HUMAN myosin phosphatase-Rho interacting protein 882 Potential. cytoplasm|cytoskeleton actin binding 0 CTGCTGACTGGGGACGGCGGT 0.632 NA 10 32 0 0 0 0 FLII 2314 broad.mit.edu 37 17 18155350 18155350 + Silent SNP C C A TCGA-CV-6945-01A-11D-1912-08 TCGA-CV-6945-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fcfc9b74-5b8a-45b7-97ca-4e477e941e7c 0e82fe21-343e-4c8a-8b59-f1fd2261bebd g.chr17:18155350C>A uc002gsr.1 - 11 1260 c.1209G>T c.(1207-1209)GCG>GCT p.A403A FLII_uc002gsq.1_Silent_p.A275A|FLII_uc010cpy.1_Silent_p.A392A|FLII_uc010vxn.1_Silent_p.A372A|FLII_uc010vxo.1_Silent_p.A349A|FLII_uc002gss.1_Silent_p.A403A NM_002018 NP_002009 Q13045 FLII_HUMAN flightless I homolog 403 Interaction with LRRFIP1 and LRRFIP2. multicellular organismal development|muscle contraction|regulation of transcription, DNA-dependent|transcription, DNA-dependent centrosome|nucleus actin binding central_nervous_system(1)|skin(1) 2 all_neural(463;0.228) GAGAGGCACCCGCTAGCCGCA 0.637 NA 50 100 4e-15 8.33e-15 1 0 C17orf66 256957 broad.mit.edu 37 17 34192401 34192401 + Splice_Site SNP C C A TCGA-CV-6945-01A-11D-1912-08 TCGA-CV-6945-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fcfc9b74-5b8a-45b7-97ca-4e477e941e7c 0e82fe21-343e-4c8a-8b59-f1fd2261bebd g.chr17:34192401C>A uc002hke.1 - 3 288 c.139_splice c.e3-1 p.M47_splice C17orf66_uc010wck.1_Splice_Site|C17orf66_uc010wcl.1_Splice_Site_p.M47_splice|C17orf66_uc010wcm.1_Splice_Site_p.M13_splice NM_152781 NP_689994 A2RTY3 CQ066_HUMAN hypothetical protein LOC256957 binding breast(2)|skin(1) 3 Ovarian(249;0.17) UCEC - Uterine corpus endometrioid carcinoma (308;0.0184) CCTTTGGCATCTGGGGGTTGC 0.562 NA 13 19 0.00136819 0.00235449 1 0 KRTAP4-8 728224 broad.mit.edu 37 17 39254054 39254054 + Missense_Mutation SNP A A T rs76270529 by1000genomes TCGA-CV-6945-01A-11D-1912-08 TCGA-CV-6945-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fcfc9b74-5b8a-45b7-97ca-4e477e941e7c 0e82fe21-343e-4c8a-8b59-f1fd2261bebd g.chr17:39254054A>T uc010wfo.1 - 1 322 c.283T>A c.(283-285)TGC>AGC p.C95S NM_031960 NP_114166 Q9BYQ9 KRA48_HUMAN keratin associated protein 4.8 95 25 X 5 AA repeats of C-C-[IKRQVHEC]- [SPRT]-[STCVQPR].|15. keratin filament 0 ctggagatgcagcagcTAGGG 0.318 NA 6 52 0 0 0 0 KRT13 3860 broad.mit.edu 37 17 39658642 39658642 + Missense_Mutation SNP C C T TCGA-CV-6945-01A-11D-1912-08 TCGA-CV-6945-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fcfc9b74-5b8a-45b7-97ca-4e477e941e7c 0e82fe21-343e-4c8a-8b59-f1fd2261bebd g.chr17:39658642C>T uc002hwu.1 - 6 1291 c.1228G>A c.(1228-1230)GAG>AAG p.E410K KRT13_uc002hwv.1_Missense_Mutation_p.E410K|KRT13_uc002hww.2_Missense_Mutation_p.E303K|KRT13_uc010wfr.1_Missense_Mutation_p.E303K|KRT13_uc010cxo.2_Missense_Mutation_p.E410K|KRT13_uc002hwx.1_Missense_Mutation_p.E398K NM_153490 NP_705694 P13646 K1C13_HUMAN keratin 13 isoform a 410 Rod.|Coil 2. epidermis development intermediate filament structural molecule activity ovary(2)|skin(2)|pancreas(1) 5 Breast(137;0.000286) TCCTGGCCCTCGAGCAGGCTG 0.493 NA 40 119 0 0 0 0 C17orf71 55181 broad.mit.edu 37 17 57288460 57288460 + Missense_Mutation SNP A A T TCGA-CV-6945-01A-11D-1912-08 TCGA-CV-6945-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fcfc9b74-5b8a-45b7-97ca-4e477e941e7c 0e82fe21-343e-4c8a-8b59-f1fd2261bebd g.chr17:57288460A>T uc002ixi.2 + 1 1090 c.1048A>T c.(1048-1050)ATG>TTG p.M350L NM_018149 NP_060619 Q8ND04 SMG8_HUMAN SMG8 protein 350 nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of protein kinase activity protein binding 0 all_neural(34;0.0837)|Medulloblastoma(34;0.0922) CCCAGTAGGTATGTTGCTGGA 0.522 NA 19 48 0 0 0 0 CCDC40 55036 broad.mit.edu 37 17 78059875 78059875 + Missense_Mutation SNP C C A TCGA-CV-6945-01A-11D-1912-08 TCGA-CV-6945-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fcfc9b74-5b8a-45b7-97ca-4e477e941e7c 0e82fe21-343e-4c8a-8b59-f1fd2261bebd g.chr17:78059875C>A uc010dht.2 + 14 2336 c.2309C>A c.(2308-2310)GCG>GAG p.A770E CCDC40_uc002jxm.3_Missense_Mutation_p.A553E|CCDC40_uc002jxn.3_Missense_Mutation_p.A166E NM_017950 NP_060420 Q4G0X9 CCD40_HUMAN coiled-coil domain containing 40 770 Potential. axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility cilium|cytoplasm ovary(3) 3 all_neural(118;0.167) OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.149) GATGGCAAGGCGGTCCAGGCC 0.587 NA 6 55 3.6e-05 6.49e-05 1 0 ZNF519 162655 broad.mit.edu 37 18 14106335 14106335 + Silent SNP C C A TCGA-CV-6945-01A-11D-1912-08 TCGA-CV-6945-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fcfc9b74-5b8a-45b7-97ca-4e477e941e7c 0e82fe21-343e-4c8a-8b59-f1fd2261bebd g.chr18:14106335C>A uc002kst.1 - 3 357 c.204G>T c.(202-204)CTG>CTT p.L68L ZNF519_uc002ksq.1_Intron|ZNF519_uc002ksr.1_Intron|ZNF519_uc010dlm.1_Intron NM_145287 NP_660330 Q8TB69 ZN519_HUMAN zinc finger protein 519 68 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 CATATCTTCCCAGTGTTGCTT 0.343 NA 9 47 0.000274275 0.000483734 1 0 C19orf12 83636 broad.mit.edu 37 19 30193700 30193700 + Silent SNP C C T TCGA-CV-6945-01A-11D-1912-08 TCGA-CV-6945-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fcfc9b74-5b8a-45b7-97ca-4e477e941e7c 0e82fe21-343e-4c8a-8b59-f1fd2261bebd g.chr19:30193700C>T uc002nsk.2 - 3 776 c.345G>A c.(343-345)GAG>GAA p.E115E C19orf12_uc002nsj.2_Silent_p.E126E|C19orf12_uc002nsl.2_3'UTR|C19orf12_uc002nsm.2_Intron NM_031448 NP_113636 Q9NSK7 CS012_HUMAN hypothetical protein LOC83636 isoform 2 115 integral to membrane 0 Ovarian(5;0.000567)|Breast(6;0.0203)|Esophageal squamous(110;0.239) UCEC - Uterine corpus endometrioid carcinoma (4;2.65e-06)|STAD - Stomach adenocarcinoma(5;1.7e-06)|Lung(7;0.0435)|LUAD - Lung adenocarcinoma(5;0.0989)|BRCA - Breast invasive adenocarcinoma(6;0.183) GCTGCAGGGCCTCGCTGCCCA 0.642 NA 10 22 0 0 0 0 ATP4A 495 broad.mit.edu 37 19 36046418 36046418 + Missense_Mutation SNP C C T TCGA-CV-6945-01A-11D-1912-08 TCGA-CV-6945-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fcfc9b74-5b8a-45b7-97ca-4e477e941e7c 0e82fe21-343e-4c8a-8b59-f1fd2261bebd g.chr19:36046418C>T uc002oal.1 - 14 2110 c.2081G>A c.(2080-2082)CGC>CAC p.R694H ATP4A_uc010eee.1_5'UTR NM_000704 NP_000695 P20648 ATP4A_HUMAN hydrogen/potassium-exchanging ATPase 4A 694 Cytoplasmic (Potential). ATP biosynthetic process|ATP hydrolysis coupled proton transport integral to plasma membrane ATP binding|hydrogen:potassium-exchanging ATPase activity|magnesium ion binding ovary(1) 1 all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0724) Esomeprazole(DB00736)|Lansoprazole(DB00448)|Omeprazole(DB00338)|Pantoprazole(DB00213)|Rabeprazole(DB01129)|Trifluoperazine(DB00831) GGGGTGGGTGCGCAGGGCCTC 0.652 NA 11 30 0 0 0 0 CATSPERG 57828 broad.mit.edu 37 19 38860883 38860883 + Silent SNP C C A TCGA-CV-6945-01A-11D-1912-08 TCGA-CV-6945-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fcfc9b74-5b8a-45b7-97ca-4e477e941e7c 0e82fe21-343e-4c8a-8b59-f1fd2261bebd g.chr19:38860883C>A uc002oih.3 + 28 3285 c.3198C>A c.(3196-3198)GCC>GCA p.A1066A CATSPERG_uc002oig.3_Silent_p.A1026A|CATSPERG_uc002oif.3_Silent_p.A706A|CATSPERG_uc010efw.2_RNA NM_021185 NP_067008 Q6ZRH7 CTSRG_HUMAN cation channel, sperm-associated, gamma 1066 Extracellular (Potential). cell differentiation|multicellular organismal development|spermatogenesis integral to membrane ovary(1)|skin(1) 2 CCAAGCGGGCCCTTTTCATCA 0.597 NA 13 18 4.38e-07 8.22e-07 1 0 GRLF1 2909 broad.mit.edu 37 19 47503647 47503647 + Nonsense_Mutation SNP G G A TCGA-CV-6945-01A-11D-1912-08 TCGA-CV-6945-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fcfc9b74-5b8a-45b7-97ca-4e477e941e7c 0e82fe21-343e-4c8a-8b59-f1fd2261bebd g.chr19:47503647G>A uc010ekv.2 + 6 4202 c.4202G>A c.(4201-4203)TGG>TAG p.W1401* NM_004491 NP_004482 Q9NRY4 RHG35_HUMAN glucocorticoid receptor DNA binding factor 1 1401 Rho-GAP. axon guidance|negative regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent cytosol DNA binding|Rho GTPase activator activity|transcription corepressor activity central_nervous_system(1) 1 all_cancers(25;1.51e-09)|all_epithelial(76;1.87e-07)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|Ovarian(192;0.0129)|all_neural(266;0.026)|Breast(70;0.077) all cancers(93;2.03e-05)|OV - Ovarian serous cystadenocarcinoma(262;2.57e-05)|Epithelial(262;0.00135)|GBM - Glioblastoma multiforme(486;0.0289) ATCTGCTTCTGGCCCACCTTG 0.542 NA 36 241 0 0 0 0 LILRB1 10859 broad.mit.edu 37 19 55143396 55143396 + Missense_Mutation SNP C C G TCGA-CV-6945-01A-11D-1912-08 TCGA-CV-6945-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fcfc9b74-5b8a-45b7-97ca-4e477e941e7c 0e82fe21-343e-4c8a-8b59-f1fd2261bebd g.chr19:55143396C>G uc002qgj.2 + 6 709 c.369C>G c.(367-369)ATC>ATG p.I123M LILRB1_uc010erp.1_Intron|LILRB1_uc002qgl.2_Missense_Mutation_p.I123M|LILRB1_uc002qgk.2_Missense_Mutation_p.I123M|LILRB1_uc002qgm.2_Missense_Mutation_p.I123M|LILRB1_uc010erq.2_Missense_Mutation_p.I123M|LILRB1_uc010err.2_RNA NM_006669 NP_006660 Q8NHL6 LIRB1_HUMAN leukocyte immunoglobulin-like receptor, 123 Ig-like C2-type 2.|Extracellular (Potential). regulation of immune response|response to virus integral to membrane|plasma membrane protein phosphatase 1 binding|receptor activity large_intestine(1)|ovary(1)|skin(1) 3 GBM - Glioblastoma multiforme(193;0.0188) GAGCCTACATCAAACCCACCC 0.582 NA HNSCC(37;0.09) 18 101 0 0 0 0 NLRP2 55655 broad.mit.edu 37 19 55493571 55493571 + Missense_Mutation SNP C C T TCGA-CV-6945-01A-11D-1912-08 TCGA-CV-6945-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fcfc9b74-5b8a-45b7-97ca-4e477e941e7c 0e82fe21-343e-4c8a-8b59-f1fd2261bebd g.chr19:55493571C>T uc002qij.2 + 6 591 c.505C>T c.(505-507)CGG>TGG p.R169W NLRP2_uc010yfp.1_Missense_Mutation_p.R146W|NLRP2_uc010esn.2_Missense_Mutation_p.R145W|NLRP2_uc010eso.2_Missense_Mutation_p.R166W|NLRP2_uc010esp.2_Missense_Mutation_p.R147W NM_017852 NP_060322 Q9NX02 NALP2_HUMAN NLR family, pyrin domain containing 2 169 apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion cytoplasm ATP binding|Pyrin domain binding ovary(1)|skin(1) 2 BRCA - Breast invasive adenocarcinoma(297;0.163) GBM - Glioblastoma multiforme(193;0.028) GACGAAGTTCCGGGAGATGTG 0.483 NA 96 162 0 0 0 0 NLRP4 147945 broad.mit.edu 37 19 56370340 56370340 + Missense_Mutation SNP A A G TCGA-CV-6945-01A-11D-1912-08 TCGA-CV-6945-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fcfc9b74-5b8a-45b7-97ca-4e477e941e7c 0e82fe21-343e-4c8a-8b59-f1fd2261bebd g.chr19:56370340A>G uc002qmd.3 + 3 2003 c.1581A>G c.(1579-1581)ATA>ATG p.I527M NLRP4_uc002qmf.2_Missense_Mutation_p.I452M|NLRP4_uc010etf.2_Missense_Mutation_p.I358M NM_134444 NP_604393 Q96MN2 NALP4_HUMAN NLR family, pyrin domain containing 4 527 ATP binding ovary(5)|skin(4)|lung(3)|upper_aerodigestive_tract(1)|kidney(1)|pancreas(1) 15 Colorectal(82;0.0002)|Ovarian(87;0.221) GBM - Glioblastoma multiforme(193;0.0606) CCCAAGAGATAAAGCAGCAAA 0.428 NA 15 70 0 0 0 0 ZSCAN18 65982 broad.mit.edu 37 19 58596681 58596681 + Missense_Mutation SNP G G A TCGA-CV-6945-01A-11D-1912-08 TCGA-CV-6945-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fcfc9b74-5b8a-45b7-97ca-4e477e941e7c 0e82fe21-343e-4c8a-8b59-f1fd2261bebd g.chr19:58596681G>A uc002qri.2 - 7 1213 c.904C>T c.(904-906)CCT>TCT p.P302S ZSCAN18_uc002qrj.3_Missense_Mutation_p.P301S|ZSCAN18_uc010yhs.1_Missense_Mutation_p.P166S|ZSCAN18_uc002qrh.2_Missense_Mutation_p.P302S|ZSCAN18_uc010yht.1_Missense_Mutation_p.P358S|ZSCAN18_uc002qrk.1_3'UTR|ZSCAN18_uc002qrl.2_3'UTR NM_001145543 NP_001139015 Q8TBC5 ZSC18_HUMAN zinc finger and SCAN domain containing 18 302 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding 0 Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.114)|Ovarian(87;0.156) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152) GGCAGCTCAGGCAGCACCCCC 0.741 NA 8 10 0 0 0 0 MZF1 7593 broad.mit.edu 37 19 59073763 59073763 + Silent SNP G G A TCGA-CV-6945-01A-11D-1912-08 TCGA-CV-6945-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fcfc9b74-5b8a-45b7-97ca-4e477e941e7c 0e82fe21-343e-4c8a-8b59-f1fd2261bebd g.chr19:59073763G>A uc002qto.2 - 6 2442 c.1881C>T c.(1879-1881)TGC>TGT p.C627C LOC100131691_uc002qtm.2_Intron|MZF1_uc002qtn.2_Silent_p.C627C NM_198055 NP_932172 P28698 MZF1_HUMAN zinc finger protein 42 isoform 2 627 C2H2-type 10. viral reproduction nucleus protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding ovary(1) 1 all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184) UCEC - Uterine corpus endometrioid carcinoma (67;0.0443)|all cancers(4;7.92e-14)|Epithelial(4;5.57e-11)|OV - Ovarian serous cystadenocarcinoma(4;1.13e-09)|GBM - Glioblastoma multiforme(193;0.0108)|Lung(386;0.182) CGCACTCACCGCAGTGGTAGG 0.672 NA 8 14 0 0 0 0 OSR1 130497 broad.mit.edu 37 2 19553023 19553023 + Missense_Mutation SNP G G A TCGA-CV-6945-01A-11D-1912-08 TCGA-CV-6945-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fcfc9b74-5b8a-45b7-97ca-4e477e941e7c 0e82fe21-343e-4c8a-8b59-f1fd2261bebd g.chr2:19553023G>A uc002rdc.2 - 2 847 c.544C>T c.(544-546)CGC>TGC p.R182C NM_145260 NP_660303 Q8TAX0 OSR1_HUMAN odd-skipped related 1 182 C2H2-type 1. chondrocyte differentiation|embryonic digit morphogenesis|embryonic forelimb morphogenesis|embryonic hindlimb morphogenesis|embryonic leg joint morphogenesis|embryonic skeletal joint morphogenesis|heart development|mesangial cell development|mesonephric duct morphogenesis|metanephric cap mesenchymal cell proliferation involved in metanephros development|metanephric glomerulus vasculature development|metanephric interstitial cell development|metanephric mesenchymal cell differentiation|metanephric nephron tubule development|metanephric smooth muscle tissue development|middle ear morphogenesis|negative regulation of apoptosis|negative regulation of nephron tubule epithelial cell differentiation|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|pattern specification involved in metanephros development|positive regulation of bone mineralization|positive regulation of epithelial cell proliferation|positive regulation of gastrulation|positive regulation of transcription from RNA polymerase II promoter|pronephros development|renal vesicle progenitor cell differentiation|specification of anterior mesonephric tubule identity|specification of posterior mesonephric tubule identity|stem cell differentiation|transcription, DNA-dependent|ureter urothelium development|ureteric bud development nucleolus nucleic acid binding|zinc ion binding ovary(1) 1 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.197) Acute lymphoblastic leukemia(84;0.221) GTGAAGTGGCGGCCACAGAAC 0.567 NA 40 66 0 0 0 0 OTOF 9381 broad.mit.edu 37 2 26682979 26682979 + Silent SNP A A G TCGA-CV-6945-01A-11D-1912-08 TCGA-CV-6945-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fcfc9b74-5b8a-45b7-97ca-4e477e941e7c 0e82fe21-343e-4c8a-8b59-f1fd2261bebd g.chr2:26682979A>G uc002rhk.2 - 46 6035 c.5908T>C c.(5908-5910)TTG>CTG p.L1970L OTOF_uc010yla.1_Intron|OTOF_uc002rhh.2_Silent_p.L1203L|OTOF_uc002rhi.2_Silent_p.L1280L|OTOF_uc002rhj.2_Intron NM_194248 NP_919224 Q9HC10 OTOF_HUMAN otoferlin isoform a 1970 Poly-Leu.|Helical; (Potential). cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane calcium ion binding ovary(3)|breast(2)|central_nervous_system(1)|pancreas(1) 7 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) AGGAGCAGCAACAGTTTGAGG 0.607 NA 4 12 0 0 0 0 CTNNA2 1496 broad.mit.edu 37 2 80835424 80835424 + Missense_Mutation SNP G G T TCGA-CV-6945-01A-11D-1912-08 TCGA-CV-6945-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fcfc9b74-5b8a-45b7-97ca-4e477e941e7c 0e82fe21-343e-4c8a-8b59-f1fd2261bebd g.chr2:80835424G>T uc010ysh.1 + 16 2416 c.2411G>T c.(2410-2412)GGA>GTA p.G804V CTNNA2_uc010yse.1_Missense_Mutation_p.G804V|CTNNA2_uc010ysf.1_Missense_Mutation_p.G804V|CTNNA2_uc010ysg.1_Intron|CTNNA2_uc010ysi.1_Missense_Mutation_p.G436V|CTNNA2_uc010ysj.1_Missense_Mutation_p.G133V NM_004389 NP_004380 P26232 CTNA2_HUMAN catenin, alpha 2 isoform 1 804 axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity actin cytoskeleton|axon|cytosol cadherin binding|structural constituent of cytoskeleton pancreas(4)|lung(3)|breast(1)|skin(1) 9 AATCTGGGAGGAGAGCTCATT 0.463 NA 15 30 2.49e-13 5.09e-13 1 0 NCKAP5 344148 broad.mit.edu 37 2 133543010 133543010 + Silent SNP C C A TCGA-CV-6945-01A-11D-1912-08 TCGA-CV-6945-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fcfc9b74-5b8a-45b7-97ca-4e477e941e7c 0e82fe21-343e-4c8a-8b59-f1fd2261bebd g.chr2:133543010C>A uc002ttp.2 - 14 1748 c.1374G>T c.(1372-1374)GGG>GGT p.G458G NCKAP5_uc002ttq.2_Intron NM_207363 NP_997246 O14513 NCKP5_HUMAN Nck-associated protein 5 isoform 1 458 protein binding 0 TGCAGGGGCTCCCCAGGTCAG 0.468 NA 8 44 1.26e-09 2.44e-09 1 0 PKP4 8502 broad.mit.edu 37 2 159530275 159530275 + Splice_Site SNP T T G TCGA-CV-6945-01A-11D-1912-08 TCGA-CV-6945-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fcfc9b74-5b8a-45b7-97ca-4e477e941e7c 0e82fe21-343e-4c8a-8b59-f1fd2261bebd g.chr2:159530275T>G uc002tzv.2 + 18 3269 c.3009_splice c.e18+2 p.K1003_splice PKP4_uc002tzw.2_Splice_Site_p.K1003_splice|PKP4_uc002tzx.2_Splice_Site_p.K660_splice|PKP4_uc002uaa.2_Splice_Site_p.K855_splice|uc002uab.1_Intron|PKP4_uc002uac.2_Splice_Site_p.K184_splice|PKP4_uc002uad.2_Splice_Site|PKP4_uc002uae.1_Splice_Site_p.K90_splice NM_003628 NP_003619 Q99569 PKP4_HUMAN plakophilin 4 isoform a cell adhesion desmosome protein binding ovary(5)|skin(2) 7 TATAAAAAGGTAACCTACAAG 0.388 NA HNSCC(62;0.18) 19 34 0 0 0 0 TANK 10010 broad.mit.edu 37 2 162087916 162087916 + Missense_Mutation SNP A A G TCGA-CV-6945-01A-11D-1912-08 TCGA-CV-6945-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fcfc9b74-5b8a-45b7-97ca-4e477e941e7c 0e82fe21-343e-4c8a-8b59-f1fd2261bebd g.chr2:162087916A>G uc002ubr.1 + 7 1113 c.955A>G c.(955-957)ATC>GTC p.I319V TANK_uc002ubs.2_Missense_Mutation_p.I319V NM_004180 NP_004171 Q92844 TANK_HUMAN TRAF interacting protein TANK isoform a 319 cytosol metal ion binding|protein binding ovary(1) 1 AAACACTTGTATCAGGACAAC 0.403 NA 19 57 0 0 0 0 TTN 7273 broad.mit.edu 37 2 179428334 179428334 + Silent SNP G G T TCGA-CV-6945-01A-11D-1912-08 TCGA-CV-6945-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fcfc9b74-5b8a-45b7-97ca-4e477e941e7c 0e82fe21-343e-4c8a-8b59-f1fd2261bebd g.chr2:179428334G>T uc010zfg.1 - 275 75045 c.74821C>A c.(74821-74823)CGA>AGA p.R24941R uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Silent_p.R18636R|TTN_uc010zfi.1_Silent_p.R18569R|TTN_uc010zfj.1_Silent_p.R18444R NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 25868 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1) 153 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) TCCTTATCTCGTTTTTCAAGA 0.463 NA 43 129 1e-27 2.14e-27 1 0 TTN 7273 broad.mit.edu 37 2 179612977 179612977 + Missense_Mutation SNP G G A TCGA-CV-6945-01A-11D-1912-08 TCGA-CV-6945-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fcfc9b74-5b8a-45b7-97ca-4e477e941e7c 0e82fe21-343e-4c8a-8b59-f1fd2261bebd g.chr2:179612977G>A uc002unb.2 - 46 14374 c.14150C>T c.(14149-14151)ACT>ATT p.T4717I TTN_uc010zfg.1_Intron|TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Intron NM_133379 NP_596870 Q8WZ42 TITIN_HUMAN titin isoform novex-3 826 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1) 153 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) AGAAAGATCAGTTTTTAAAAT 0.328 NA 12 53 0 0 0 0 ASNSD1 54529 broad.mit.edu 37 2 190530996 190530996 + Missense_Mutation SNP G G T TCGA-CV-6945-01A-11D-1912-08 TCGA-CV-6945-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fcfc9b74-5b8a-45b7-97ca-4e477e941e7c 0e82fe21-343e-4c8a-8b59-f1fd2261bebd g.chr2:190530996G>T uc002uqt.2 + 4 572 c.138G>T c.(136-138)CAG>CAT p.Q46H NM_019048 NP_061921 Q9NWL6 ASND1_HUMAN asparagine synthetase domain containing 1 46 Glutamine amidotransferase type-2. asparagine biosynthetic process|glutamine metabolic process asparagine synthase (glutamine-hydrolyzing) activity ovary(2)|skin(1) 3 OV - Ovarian serous cystadenocarcinoma(117;0.00318)|Epithelial(96;0.0449)|all cancers(119;0.118) TTAACTACCAGTGTTTATTTT 0.378 NA 32 85 8.17e-17 1.71e-16 1 0 MMP24 10893 broad.mit.edu 37 20 33855127 33855127 + Missense_Mutation SNP G G A TCGA-CV-6945-01A-11D-1912-08 TCGA-CV-6945-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fcfc9b74-5b8a-45b7-97ca-4e477e941e7c 0e82fe21-343e-4c8a-8b59-f1fd2261bebd g.chr20:33855127G>A uc002xbu.2 + 6 1102 c.1099G>A c.(1099-1101)GGG>AGG p.G367R EDEM2_uc010zuv.1_Intron NM_006690 NP_006681 Q9Y5R2 MMP24_HUMAN matrix metalloproteinase 24 preproprotein 367 Extracellular (Potential). proteolysis integral to plasma membrane|proteinaceous extracellular matrix calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding 0 BRCA - Breast invasive adenocarcinoma(18;0.00252) GCCGCCCCTCGGGGACCGGCC 0.637 NA 4 12 0 0 0 0 RBM11 54033 broad.mit.edu 37 21 15599316 15599316 + Missense_Mutation SNP G G C TCGA-CV-6945-01A-11D-1912-08 TCGA-CV-6945-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fcfc9b74-5b8a-45b7-97ca-4e477e941e7c 0e82fe21-343e-4c8a-8b59-f1fd2261bebd g.chr21:15599316G>C uc002yjo.3 + 5 590 c.548G>C c.(547-549)GGA>GCA p.G183A RBM11_uc002yjn.3_Missense_Mutation_p.G69A|RBM11_uc002yjp.3_Missense_Mutation_p.G69A NM_144770 NP_658983 P57052 RBM11_HUMAN RNA binding motif protein 11 183 nucleotide binding|RNA binding 0 Epithelial(23;0.000314)|COAD - Colon adenocarcinoma(22;0.00242)|Colorectal(24;0.0129)|Lung(58;0.141) CTTGAGGCTGGACCCAGCTCA 0.463 NA 5 303 0 0 0 0 RBM11 54033 broad.mit.edu 37 21 15599442 15599442 + Missense_Mutation SNP G G C TCGA-CV-6945-01A-11D-1912-08 TCGA-CV-6945-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fcfc9b74-5b8a-45b7-97ca-4e477e941e7c 0e82fe21-343e-4c8a-8b59-f1fd2261bebd g.chr21:15599442G>C uc002yjo.3 + 5 716 c.674G>C c.(673-675)GGA>GCA p.G225A RBM11_uc002yjn.3_Missense_Mutation_p.G111A|RBM11_uc002yjp.3_Missense_Mutation_p.G111A NM_144770 NP_658983 P57052 RBM11_HUMAN RNA binding motif protein 11 225 nucleotide binding|RNA binding 0 Epithelial(23;0.000314)|COAD - Colon adenocarcinoma(22;0.00242)|Colorectal(24;0.0129)|Lung(58;0.141) CTTGAGGCTGGACCCAGCTCA 0.423 NA 42 229 0 0 0 0 RBM11 54033 broad.mit.edu 37 21 15599531 15599531 + Missense_Mutation SNP G G A TCGA-CV-6945-01A-11D-1912-08 TCGA-CV-6945-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fcfc9b74-5b8a-45b7-97ca-4e477e941e7c 0e82fe21-343e-4c8a-8b59-f1fd2261bebd g.chr21:15599531G>A uc002yjo.3 + 5 805 c.763G>A c.(763-765)GAT>AAT p.D255N RBM11_uc002yjn.3_Missense_Mutation_p.D141N|RBM11_uc002yjp.3_Missense_Mutation_p.D141N NM_144770 NP_658983 P57052 RBM11_HUMAN RNA binding motif protein 11 255 nucleotide binding|RNA binding 0 Epithelial(23;0.000314)|COAD - Colon adenocarcinoma(22;0.00242)|Colorectal(24;0.0129)|Lung(58;0.141) GCAAACAAGTGATAGTGATAG 0.388 NA 22 130 0 0 0 0 RBM11 54033 broad.mit.edu 37 21 15599567 15599567 + Nonsense_Mutation SNP G G T rs61733445 TCGA-CV-6945-01A-11D-1912-08 TCGA-CV-6945-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fcfc9b74-5b8a-45b7-97ca-4e477e941e7c 0e82fe21-343e-4c8a-8b59-f1fd2261bebd g.chr21:15599567G>T uc002yjo.3 + 5 841 c.799G>T c.(799-801)GAA>TAA p.E267* RBM11_uc002yjn.3_Nonsense_Mutation_p.E153*|RBM11_uc002yjp.3_Nonsense_Mutation_p.E153* NM_144770 NP_658983 P57052 RBM11_HUMAN RNA binding motif protein 11 267 nucleotide binding|RNA binding 0 Epithelial(23;0.000314)|COAD - Colon adenocarcinoma(22;0.00242)|Colorectal(24;0.0129)|Lung(58;0.141) CAGAGGCAACGAATGTAGCCA 0.358 NA 15 86 2.99e-18 6.26e-18 1 0 RBM11 54033 broad.mit.edu 37 21 15599599 15599599 + Silent SNP G G A TCGA-CV-6945-01A-11D-1912-08 TCGA-CV-6945-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fcfc9b74-5b8a-45b7-97ca-4e477e941e7c 0e82fe21-343e-4c8a-8b59-f1fd2261bebd g.chr21:15599599G>A uc002yjo.3 + 5 873 c.831G>A c.(829-831)AAG>AAA p.K277K RBM11_uc002yjn.3_Silent_p.K163K|RBM11_uc002yjp.3_Silent_p.K163K NM_144770 NP_658983 P57052 RBM11_HUMAN RNA binding motif protein 11 277 nucleotide binding|RNA binding 0 Epithelial(23;0.000314)|COAD - Colon adenocarcinoma(22;0.00242)|Colorectal(24;0.0129)|Lung(58;0.141) AGTCTAAGAAGAAGAAAAGAT 0.328 NA 12 62 0 0 0 0 KRTAP13-2 337959 broad.mit.edu 37 21 31744390 31744390 + Missense_Mutation SNP G G T TCGA-CV-6945-01A-11D-1912-08 TCGA-CV-6945-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fcfc9b74-5b8a-45b7-97ca-4e477e941e7c 0e82fe21-343e-4c8a-8b59-f1fd2261bebd g.chr21:31744390G>T uc002ynz.3 - 1 168 c.142C>A c.(142-144)CTG>ATG p.L48M NM_181621 NP_853652 Q52LG2 KR132_HUMAN keratin associated protein 13-2 48 1.|5 X 10 AA approximate repeats. intermediate filament 0 GAGGAACCCAGCTGGCAGGTG 0.602 NA 25 72 1.64e-13 3.39e-13 1 0 CELSR1 9620 broad.mit.edu 37 22 46860111 46860111 + Missense_Mutation SNP G G A TCGA-CV-6945-01A-11D-1912-08 TCGA-CV-6945-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fcfc9b74-5b8a-45b7-97ca-4e477e941e7c 0e82fe21-343e-4c8a-8b59-f1fd2261bebd g.chr22:46860111G>A uc003bhw.1 - 2 3676 c.3676C>T c.(3676-3678)CTC>TTC p.L1226F NM_014246 NP_055061 Q9NYQ6 CELR1_HUMAN cadherin EGF LAG seven-pass G-type receptor 1 1226 Extracellular (Potential). 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) TCCACGAAGAGGGCCAGCAGC 0.602 NA 12 39 0 0 0 0 ZBED4 9889 broad.mit.edu 37 22 50279257 50279257 + Silent SNP C C T TCGA-CV-6945-01A-11D-1912-08 TCGA-CV-6945-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fcfc9b74-5b8a-45b7-97ca-4e477e941e7c 0e82fe21-343e-4c8a-8b59-f1fd2261bebd g.chr22:50279257C>T uc003bix.2 + 2 2417 c.1947C>T c.(1945-1947)TAC>TAT p.Y649Y NM_014838 NP_055653 O75132 ZBED4_HUMAN zinc finger, BED-type containing 4 649 cytoplasm|nucleus DNA binding|metal ion binding|protein dimerization activity ovary(2) 2 all_cancers(38;8.58e-10)|all_epithelial(38;1.15e-08)|all_lung(38;0.000109)|Lung NSC(38;0.0018)|Breast(42;0.00191)|Ovarian(80;0.0164)|Lung SC(80;0.164) UCEC - Uterine corpus endometrioid carcinoma (28;0.168)|BRCA - Breast invasive adenocarcinoma(115;0.2)|LUAD - Lung adenocarcinoma(64;0.247) AGAAGTTTTACGATTCTCACC 0.493 NA 16 48 0 0 0 0 SHANK3 85358 broad.mit.edu 37 22 51137137 51137137 + Silent SNP C C T TCGA-CV-6945-01A-11D-1912-08 TCGA-CV-6945-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fcfc9b74-5b8a-45b7-97ca-4e477e941e7c 0e82fe21-343e-4c8a-8b59-f1fd2261bebd g.chr22:51137137C>T uc003bne.1 + 13 1566 c.1566C>T c.(1564-1566)GGC>GGT p.G522G SHANK3_uc003bnf.1_5'UTR NM_001080420 NP_001073889 F2Z3L0 F2Z3L0_HUMAN SH3 and multiple ankyrin repeat domains 3 522 central_nervous_system(1) 1 all_cancers(38;3.75e-11)|all_epithelial(38;1.82e-09)|Breast(42;0.000448)|all_lung(38;0.000665)|Lung NSC(38;0.0104)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178) BRCA - Breast invasive adenocarcinoma(115;0.22) TTGGGGAGGGCGGTTTCTGGG 0.652 NA 8 25 0 0 0 0 ARPP21 10777 broad.mit.edu 37 3 35732493 35732493 + Nonsense_Mutation SNP A A T TCGA-CV-6945-01A-11D-1912-08 TCGA-CV-6945-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fcfc9b74-5b8a-45b7-97ca-4e477e941e7c 0e82fe21-343e-4c8a-8b59-f1fd2261bebd g.chr3:35732493A>T uc003cgb.2 + 9 946 c.682A>T c.(682-684)AGA>TGA p.R228* ARPP21_uc003cga.2_Nonsense_Mutation_p.R228*|ARPP21_uc011axy.1_Nonsense_Mutation_p.R228*|ARPP21_uc003cgf.2_Nonsense_Mutation_p.R64* NM_016300 NP_057384 Q9UBL0 ARP21_HUMAN cyclic AMP-regulated phosphoprotein, 21 kD 228 cytoplasm nucleic acid binding ovary(2)|skin(1) 3 CAGCAGCACCAGAATGTAAGC 0.368 NA 9 68 0 0 0 0 CX3CR1 1524 broad.mit.edu 37 3 39306963 39306963 + Silent SNP C C G TCGA-CV-6945-01A-11D-1912-08 TCGA-CV-6945-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fcfc9b74-5b8a-45b7-97ca-4e477e941e7c 0e82fe21-343e-4c8a-8b59-f1fd2261bebd g.chr3:39306963C>G uc003cjl.2 - 2 1130 c.1038G>C c.(1036-1038)ACG>ACC p.T346T NM_001337 NP_001328 P49238 CX3C1_HUMAN chemokine (C-X3-C motif) receptor 1 346 Cytoplasmic (Potential). cell adhesion|cellular defense response|chemotaxis|interspecies interaction between organisms|response to wounding integral to plasma membrane chemokine receptor activity lung(3) 3 KIRC - Kidney renal clear cell carcinoma(284;0.0557)|Kidney(284;0.0699) CTCCATCACTCGTGTGGTAAG 0.488 NA 43 84 0 0 0 0 ACY1 95 broad.mit.edu 37 3 52012073 52012073 + Missense_Mutation SNP G G T TCGA-CV-6945-01A-11D-1912-08 TCGA-CV-6945-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fcfc9b74-5b8a-45b7-97ca-4e477e941e7c 0e82fe21-343e-4c8a-8b59-f1fd2261bebd g.chr3:52012073G>T uc011bea.1 + 2 366 c.111G>T c.(109-111)AGG>AGT p.R37S ABHD14B_uc003dcn.2_Intron|ABHD14A_uc010hlz.2_Missense_Mutation_p.V86L|ABHD14A_uc003dco.2_Missense_Mutation_p.V86L NM_000666 NP_000657 Q03154 ACY1_HUMAN aminoacylase 1 Error:Variant_position_missing_in_Q03154_after_alignment cellular amino acid metabolic process|proteolysis cytosol aminoacylase activity|metal ion binding|metallopeptidase activity breast(1)|skin(1) 2 BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000534)|KIRC - Kidney renal clear cell carcinoma(197;0.000716) L-Aspartic Acid(DB00128) TTACCGCGAGGTGCTCCCACT 0.617 NA 6 13 0.00198382 0.00339741 1 0 OR5H2 79310 broad.mit.edu 37 3 98001793 98001793 + Missense_Mutation SNP G G T TCGA-CV-6945-01A-11D-1912-08 TCGA-CV-6945-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fcfc9b74-5b8a-45b7-97ca-4e477e941e7c 0e82fe21-343e-4c8a-8b59-f1fd2261bebd g.chr3:98001793G>T uc003dsj.1 + 1 62 c.62G>T c.(61-63)GGA>GTA p.G21V NM_001005482 NP_001005482 Q8NGV7 OR5H2_HUMAN olfactory receptor, family 5, subfamily H, 21 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.G21E(1) ovary(3) 3 GTTCTCACAGGACTTACATAT 0.413 NA 40 172 9.39e-22 1.99e-21 1 0 MYH15 22989 broad.mit.edu 37 3 108211974 108211974 + Silent SNP C C A TCGA-CV-6945-01A-11D-1912-08 TCGA-CV-6945-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fcfc9b74-5b8a-45b7-97ca-4e477e941e7c 0e82fe21-343e-4c8a-8b59-f1fd2261bebd g.chr3:108211974C>A uc003dxa.1 - 9 879 c.822G>T c.(820-822)GTG>GTT p.V274V NM_014981 NP_055796 Q9Y2K3 MYH15_HUMAN myosin, heavy polypeptide 15 274 Myosin head-like. myofibril|myosin filament actin binding|ATP binding|calmodulin binding|motor activity ovary(5)|central_nervous_system(2) 7 TATCAATGTCCACAGATGACA 0.313 NA 8 49 5.18e-06 9.44e-06 1 0 ARGFX 503582 broad.mit.edu 37 3 121304883 121304883 + Missense_Mutation SNP C C A TCGA-CV-6945-01A-11D-1912-08 TCGA-CV-6945-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fcfc9b74-5b8a-45b7-97ca-4e477e941e7c 0e82fe21-343e-4c8a-8b59-f1fd2261bebd g.chr3:121304883C>A uc003eef.2 + 5 479 c.384C>A c.(382-384)AAC>AAA p.N128K NM_001012659 NP_001012677 A6NJG6 ARGFX_HUMAN arginine-fifty homeobox 128 Homeobox. nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity skin(2)|ovary(1) 3 GBM - Glioblastoma multiforme(114;0.152) GGTTCAGGAACCGGCGATTCA 0.502 NA 8 57 0.000274275 0.000483734 1 0 SLC15A2 6565 broad.mit.edu 37 3 121643791 121643791 + Splice_Site SNP G G T TCGA-CV-6945-01A-11D-1912-08 TCGA-CV-6945-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fcfc9b74-5b8a-45b7-97ca-4e477e941e7c 0e82fe21-343e-4c8a-8b59-f1fd2261bebd g.chr3:121643791G>T uc003eep.2 + 13 1189 c.1036_splice c.e13-1 p.V346_splice SLC15A2_uc011bjn.1_Splice_Site_p.V315_splice NM_021082 NP_066568 Q16348 S15A2_HUMAN peptide transporter 2 isoform a protein transport integral to plasma membrane peptide:hydrogen symporter activity|protein binding skin(1) 1 GBM - Glioblastoma multiforme(114;0.0967) Cefadroxil(DB01140) TGGTGTTACAGGTTCTAAATC 0.393 NA 30 171 7.01e-11 1.39e-10 1 0 SLC7A14 57709 broad.mit.edu 37 3 170219002 170219002 + Missense_Mutation SNP C C G TCGA-CV-6945-01A-11D-1912-08 TCGA-CV-6945-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fcfc9b74-5b8a-45b7-97ca-4e477e941e7c 0e82fe21-343e-4c8a-8b59-f1fd2261bebd g.chr3:170219002C>G uc003fgz.2 - 3 753 c.437G>C c.(436-438)GGC>GCC p.G146A CLDN11_uc011bpt.1_Intron|uc003fha.1_Intron NM_020949 NP_066000 Q8TBB6 S7A14_HUMAN solute carrier family 7 (cationic amino acid 146 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) GGCCGCAGTGCCAATCAGGTA 0.557 NA 8 36 0 0 0 0 PIK3CA 5290 broad.mit.edu 37 3 178948136 178948136 + Missense_Mutation SNP G G A TCGA-CV-6945-01A-11D-1912-08 TCGA-CV-6945-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fcfc9b74-5b8a-45b7-97ca-4e477e941e7c 0e82fe21-343e-4c8a-8b59-f1fd2261bebd g.chr3:178948136G>A uc003fjk.2 + 20 3065 c.2908G>A c.(2908-2910)GAA>AAA p.E970K NM_006218 NP_006209 P42336 PK3CA_HUMAN phosphoinositide-3-kinase, catalytic, alpha 970 PI3K/PI4K. epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity p.E970K(2) breast(1564)|large_intestine(776)|endometrium(246)|urinary_tract(195)|ovary(141)|skin(112)|stomach(98)|thyroid(77)|central_nervous_system(69)|lung(65)|upper_aerodigestive_tract(58)|haematopoietic_and_lymphoid_tissue(27)|cervix(25)|biliary_tract(22)|liver(20)|oesophagus(17)|pancreas(11)|penis(8)|pituitary(8)|autonomic_ganglia(4)|prostate(3)|kidney(2)|meninges(1)|eye(1)|NS(1)|soft_tissue(1)|bone(1) 3553 all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155) OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282) AGGAGCCCAAGAATGCACAAA 0.338 57 Mis colorectal|gastric|gliobastoma|breast HNSCC(19;0.045)|TSP Lung(28;0.18) 32 55 0 0 0 0 ZNF141 7700 broad.mit.edu 37 4 367208 367208 + Missense_Mutation SNP A A G TCGA-CV-6945-01A-11D-1912-08 TCGA-CV-6945-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fcfc9b74-5b8a-45b7-97ca-4e477e941e7c 0e82fe21-343e-4c8a-8b59-f1fd2261bebd g.chr4:367208A>G uc003gaa.2 + 5 1160 c.982A>G c.(982-984)AAA>GAA p.K328E ZNF141_uc003gab.2_Intron NM_003441 NP_003432 Q15928 ZN141_HUMAN zinc finger protein 141 328 C2H2-type 6. anatomical structure morphogenesis|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter nucleus DNA binding|zinc ion binding 0 AACCCTTACTAAACATAAGAG 0.378 NA 29 65 0 0 0 0 HTT 3064 broad.mit.edu 37 4 3134446 3134446 + Silent SNP A A T TCGA-CV-6945-01A-11D-1912-08 TCGA-CV-6945-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fcfc9b74-5b8a-45b7-97ca-4e477e941e7c 0e82fe21-343e-4c8a-8b59-f1fd2261bebd g.chr4:3134446A>T uc011bvq.1 + 18 2545 c.2400A>T c.(2398-2400)ACA>ACT p.T800T NM_002111 NP_002102 P42858 HD_HUMAN huntingtin 798 establishment of mitotic spindle orientation|Golgi organization|retrograde vesicle-mediated transport, Golgi to ER|vesicle transport along microtubule autophagic vacuole|axon|cytoplasmic vesicle membrane|cytosol|dendrite|endoplasmic reticulum|Golgi apparatus|late endosome|membrane fraction|nucleus|protein complex beta-tubulin binding|dynactin binding|dynein intermediate chain binding|p53 binding|transcription factor binding skin(2)|ovary(1)|lung(1) 4 all_epithelial(65;0.18) UCEC - Uterine corpus endometrioid carcinoma (64;0.187) GAACCCTCACAGGTAACGGCC 0.468 NA 44 106 0 0 0 0 ADRA2C 152 broad.mit.edu 37 4 3768967 3768967 + Silent SNP C C T TCGA-CV-6945-01A-11D-1912-08 TCGA-CV-6945-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fcfc9b74-5b8a-45b7-97ca-4e477e941e7c 0e82fe21-343e-4c8a-8b59-f1fd2261bebd g.chr4:3768967C>T uc003ghm.2 + 1 672 c.634C>T c.(634-636)CTG>TTG p.L212L ADRA2C_uc010icx.2_Silent_p.L212L NM_000683 NP_000674 P18825 ADA2C_HUMAN alpha-2C-adrenergic receptor 212 Helical; Name=5; (By similarity). activation of MAPK activity by adrenergic receptor signaling pathway|activation of protein kinase B activity|blood coagulation|cell-cell signaling|energy reserve metabolic process|epidermal growth factor receptor transactivation by G-protein coupled receptor signaling pathway|negative regulation of epinephrine secretion|negative regulation of norepinephrine secretion|positive regulation of neuron differentiation|regulation of insulin secretion endosome|integral to plasma membrane alpha-2A adrenergic receptor binding|alpha2-adrenergic receptor activity|epinephrine binding|protein heterodimerization activity|protein homodimerization activity 0 UCEC - Uterine corpus endometrioid carcinoma (64;0.163) Bethanidine(DB00217)|Brimonidine(DB00484)|Debrisoquin(DB04840)|Fenoldopam(DB00800)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Lofexidine(DB04948)|Norepinephrine(DB00368)|Yohimbine(DB01392) CTGGTACATCCTGTCCTCCTG 0.682 NA 7 18 0 0 0 0 BOD1L 259282 broad.mit.edu 37 4 13602037 13602037 + Missense_Mutation SNP T T G TCGA-CV-6945-01A-11D-1912-08 TCGA-CV-6945-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fcfc9b74-5b8a-45b7-97ca-4e477e941e7c 0e82fe21-343e-4c8a-8b59-f1fd2261bebd g.chr4:13602037T>G uc003gmz.1 - 10 6604 c.6487A>C c.(6487-6489)AAG>CAG p.K2163Q BOD1L_uc010idr.1_Missense_Mutation_p.K1500Q NM_148894 NP_683692 Q8NFC6 BOD1L_HUMAN biorientation of chromosomes in cell division 2163 DNA binding ovary(5)|breast(1) 6 TCAGCACACTTGATGGTTGTT 0.507 NA 22 59 0 0 0 0 PHOX2B 8929 broad.mit.edu 37 4 41747863 41747863 + Missense_Mutation SNP G G C TCGA-CV-6945-01A-11D-1912-08 TCGA-CV-6945-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fcfc9b74-5b8a-45b7-97ca-4e477e941e7c 0e82fe21-343e-4c8a-8b59-f1fd2261bebd g.chr4:41747863G>C uc003gwf.3 - 3 1266 c.906C>G c.(904-906)AAC>AAG p.N302K NM_003924 NP_003915 Q99453 PHX2B_HUMAN paired-like homeobox 2b 302 positive regulation of transcription from RNA polymerase II promoter nuclear chromatin RNA polymerase II regulatory region sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity autonomic_ganglia(7)|lung(2)|ovary(2)|central_nervous_system(1) 12 CTTTGGCACCGTTGGGTCTTT 0.557 NA Mis|F neuroblastoma neuroblastoma congenital central hypoventilation syndrome Neuroblastoma_Familial_Clustering_of|Congenital_Central_Hypoventilation_Syndrome 27 65 0 0 0 0 KCTD8 386617 broad.mit.edu 37 4 44177041 44177041 + Silent SNP T T A TCGA-CV-6945-01A-11D-1912-08 TCGA-CV-6945-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fcfc9b74-5b8a-45b7-97ca-4e477e941e7c 0e82fe21-343e-4c8a-8b59-f1fd2261bebd g.chr4:44177041T>A uc003gwu.2 - 2 1472 c.1188A>T c.(1186-1188)GCA>GCT p.A396A NM_198353 NP_938167 Q6ZWB6 KCTD8_HUMAN potassium channel tetramerisation domain 396 cell junction|postsynaptic membrane|presynaptic membrane|voltage-gated potassium channel complex voltage-gated potassium channel activity central_nervous_system(2)|ovary(1) 3 ATTGTACAGGTGCTTTTTTAG 0.493 NA HNSCC(17;0.042) 41 216 0 0 0 0 FRAS1 80144 broad.mit.edu 37 4 79284715 79284715 + Missense_Mutation SNP G G T TCGA-CV-6945-01A-11D-1912-08 TCGA-CV-6945-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fcfc9b74-5b8a-45b7-97ca-4e477e941e7c 0e82fe21-343e-4c8a-8b59-f1fd2261bebd g.chr4:79284715G>T uc003hlb.2 + 21 2911 c.2471G>T c.(2470-2472)GGG>GTG p.G824V FRAS1_uc003hkw.2_Missense_Mutation_p.G824V NM_025074 NP_079350 Q86XX4 FRAS1_HUMAN Fraser syndrome 1 824 FU 9.|Extracellular (Potential). cell communication integral to membrane|plasma membrane metal ion binding large_intestine(5) 5 CACAACACTGGGAGCATCTGC 0.582 NA 13 18 1.05e-09 2.03e-09 1 0 PTPN13 5783 broad.mit.edu 37 4 87705662 87705662 + Missense_Mutation SNP A A T TCGA-CV-6945-01A-11D-1912-08 TCGA-CV-6945-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fcfc9b74-5b8a-45b7-97ca-4e477e941e7c 0e82fe21-343e-4c8a-8b59-f1fd2261bebd g.chr4:87705662A>T uc003hpz.2 + 38 6549 c.6069A>T c.(6067-6069)AAA>AAT p.K2023N PTPN13_uc003hpy.2_Missense_Mutation_p.K2028N|PTPN13_uc003hqa.2_Missense_Mutation_p.K2004N|PTPN13_uc003hqb.2_Missense_Mutation_p.K1832N|PTPN13_uc003hqc.1_Missense_Mutation_p.K389N NM_080683 NP_542414 Q12923 PTN13_HUMAN protein tyrosine phosphatase, non-receptor type 2023 cytoplasm|cytoskeleton|plasma membrane protein binding|protein binding|protein tyrosine phosphatase activity ovary(4)|breast(1)|kidney(1) 6 Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242) OV - Ovarian serous cystadenocarcinoma(123;0.00082) CCAAAGGAAAATGTTCTACTT 0.353 NA 3 27 0 0 0 0 KIAA0947 23379 broad.mit.edu 37 5 5486871 5486871 + Silent SNP A A T TCGA-CV-6945-01A-11D-1912-08 TCGA-CV-6945-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fcfc9b74-5b8a-45b7-97ca-4e477e941e7c 0e82fe21-343e-4c8a-8b59-f1fd2261bebd g.chr5:5486871A>T uc003jdm.3 + 18 6780 c.6558A>T c.(6556-6558)CCA>CCT p.P2186P NM_015325 NP_056140 Q9Y2F5 K0947_HUMAN hypothetical protein LOC23379 2186 ovary(1)|central_nervous_system(1) 2 AAGGATTTCCATCTGCTGTGA 0.323 NA 3 8 0 0 0 0 DNAH5 1767 broad.mit.edu 37 5 13708445 13708445 + Splice_Site SNP C C T TCGA-CV-6945-01A-11D-1912-08 TCGA-CV-6945-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fcfc9b74-5b8a-45b7-97ca-4e477e941e7c 0e82fe21-343e-4c8a-8b59-f1fd2261bebd g.chr5:13708445C>T uc003jfd.2 - 76 13168 c.13126_splice c.e76-1 p.V4376_splice DNAH5_uc003jfc.2_Splice_Site_p.V544_splice NM_001369 NP_001360 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity ovary(14)|skin(13)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|pancreas(1) 31 Lung NSC(4;0.00476) TCTCTTTTACCTGCCATGGAG 0.463 NA Kartagener_syndrome 31 62 0 0 0 0 SLC38A9 153129 broad.mit.edu 37 5 54968452 54968452 + Missense_Mutation SNP G G A TCGA-CV-6945-01A-11D-1912-08 TCGA-CV-6945-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fcfc9b74-5b8a-45b7-97ca-4e477e941e7c 0e82fe21-343e-4c8a-8b59-f1fd2261bebd g.chr5:54968452G>A uc003jqf.2 - 4 386 c.185C>T c.(184-186)TCT>TTT p.S62F SLC38A9_uc003jqd.2_5'UTR|SLC38A9_uc010ivx.2_Missense_Mutation_p.S35F|SLC38A9_uc003jqe.2_RNA|SLC38A9_uc010ivy.2_Intron NM_173514 NP_775785 Q8NBW4 S38A9_HUMAN solute carrier family 38, member 9 62 amino acid transport|sodium ion transport integral to membrane 0 Lung NSC(810;0.00122)|Prostate(74;0.0376)|Breast(144;0.181) GTTCATGGCAGAGGCATGGTC 0.413 NA 16 61 0 0 0 0 PCDHA1 56147 broad.mit.edu 37 5 140166108 140166108 + Missense_Mutation SNP A A T TCGA-CV-6945-01A-11D-1912-08 TCGA-CV-6945-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fcfc9b74-5b8a-45b7-97ca-4e477e941e7c 0e82fe21-343e-4c8a-8b59-f1fd2261bebd g.chr5:140166108A>T uc003lhb.2 + 1 233 c.233A>T c.(232-234)AAT>ATT p.N78I PCDHA1_uc003lha.2_Missense_Mutation_p.N78I|PCDHA1_uc003lgz.2_Missense_Mutation_p.N78I NM_018900 NP_061723 Q9Y5I3 PCDA1_HUMAN protocadherin alpha 1 isoform 1 precursor 78 Cadherin 1.|Extracellular (Potential). homophilic cell adhesion|nervous system development extracellular region|integral to plasma membrane calcium ion binding|protein binding skin(1) 1 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CTGGAGGTAAATCTGCAGAAT 0.597 NA 37 127 0 0 0 0 PCDHA8 56140 broad.mit.edu 37 5 140222763 140222763 + Silent SNP C C A TCGA-CV-6945-01A-11D-1912-08 TCGA-CV-6945-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fcfc9b74-5b8a-45b7-97ca-4e477e941e7c 0e82fe21-343e-4c8a-8b59-f1fd2261bebd g.chr5:140222763C>A uc003lhs.2 + 1 1857 c.1857C>A c.(1855-1857)CGC>CGA p.R619R 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.R619R NM_018911 NP_061734 Q9Y5H6 PCDA8_HUMAN protocadherin alpha 8 isoform 1 precursor 619 Cadherin 6.|Extracellular (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) GCAGCCCTCGCATCCCGTTCC 0.672 NA 48 111 1.62e-15 3.38e-15 1 0 PCDHB2 56133 broad.mit.edu 37 5 140475707 140475707 + Missense_Mutation SNP G G C TCGA-CV-6945-01A-11D-1912-08 TCGA-CV-6945-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fcfc9b74-5b8a-45b7-97ca-4e477e941e7c 0e82fe21-343e-4c8a-8b59-f1fd2261bebd g.chr5:140475707G>C uc003lil.2 + 1 1471 c.1333G>C c.(1333-1335)GAC>CAC p.D445H PCDHB2_uc003lim.1_Missense_Mutation_p.D106H NM_018936 NP_061759 Q9Y5E7 PCDB2_HUMAN protocadherin beta 2 precursor 445 Extracellular (Potential).|Cadherin 4. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to plasma membrane calcium ion binding ovary(3)|upper_aerodigestive_tract(2)|pancreas(1) 6 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) GCTGGTCTCCGACGTCAATGA 0.607 NA 55 136 0 0 0 0 C5orf41 153222 broad.mit.edu 37 5 172517447 172517447 + Missense_Mutation SNP G G A TCGA-CV-6945-01A-11D-1912-08 TCGA-CV-6945-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fcfc9b74-5b8a-45b7-97ca-4e477e941e7c 0e82fe21-343e-4c8a-8b59-f1fd2261bebd g.chr5:172517447G>A uc003mch.2 + 4 569 c.265G>A c.(265-267)GAA>AAA p.E89K C5orf41_uc003mcg.2_Missense_Mutation_p.E89K|C5orf41_uc003mcf.2_Missense_Mutation_p.E89K|C5orf41_uc011dfd.1_Missense_Mutation_p.E89K NM_153607 NP_705835 Q8IUR6 CE041_HUMAN luman-recruiting factor 89 protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity 0 Renal(175;0.000159)|Lung NSC(126;0.00223)|all_lung(126;0.00391) Medulloblastoma(196;0.0399)|all_neural(177;0.0966) Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516) CTCAAACTGGGAACAGTGGGA 0.413 NA 29 34 0 0 0 0 RGS14 10636 broad.mit.edu 37 5 176794768 176794768 + Silent SNP G G T TCGA-CV-6945-01A-11D-1912-08 TCGA-CV-6945-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fcfc9b74-5b8a-45b7-97ca-4e477e941e7c 0e82fe21-343e-4c8a-8b59-f1fd2261bebd g.chr5:176794768G>T uc003mgf.2 + 7 863 c.681G>T c.(679-681)GGG>GGT p.G227G RGS14_uc003mgg.1_Silent_p.G74G|RGS14_uc003mgh.2_Silent_p.G74G|RGS14_uc003mgi.2_5'UTR NM_006480 NP_006471 O43566 RGS14_HUMAN regulator of G-protein signalling 14 227 chromosome segregation|long-term memory|long-term synaptic potentiation|negative regulation of ERK1 and ERK2 cascade|negative regulation of MAP kinase activity|negative regulation of synaptic plasticity|nucleocytoplasmic transport|platelet-derived growth factor receptor signaling pathway|positive regulation of neurogenesis|regulation of DNA-dependent transcription in response to stress|regulation of G-protein coupled receptor protein signaling pathway|response to oxidative stress|spindle organization|visual learning|zygote asymmetric cell division cell junction|centrosome|dendritic spine|microtubule|PML body|postsynaptic density|postsynaptic membrane|spindle pole GDP-dissociation inhibitor activity|GTPase activator activity|microtubule binding|receptor signaling complex scaffold activity|receptor signaling protein activity lung(1) 1 all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152) all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) AGGAGTTGGGGCAGCTGCCAC 0.711 NA 14 49 1.68e-08 3.22e-08 1 0 DNAH8 1769 broad.mit.edu 37 6 38820534 38820534 + Missense_Mutation SNP G G A TCGA-CV-6945-01A-11D-1912-08 TCGA-CV-6945-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fcfc9b74-5b8a-45b7-97ca-4e477e941e7c 0e82fe21-343e-4c8a-8b59-f1fd2261bebd g.chr6:38820534G>A uc003ooe.1 + 38 5480 c.4880G>A c.(4879-4881)CGC>CAC p.R1627H NM_001371 NP_001362 dynein, axonemal, heavy polypeptide 8 skin(8)|ovary(7)|lung(2)|large_intestine(1)|central_nervous_system(1)|kidney(1)|pancreas(1) 21 GACTATGATCGCATCATGGCC 0.378 NA 8 30 0 0 0 0 EIF3B 8662 broad.mit.edu 37 7 2409186 2409186 + Missense_Mutation SNP C C A TCGA-CV-6945-01A-11D-1912-08 TCGA-CV-6945-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fcfc9b74-5b8a-45b7-97ca-4e477e941e7c 0e82fe21-343e-4c8a-8b59-f1fd2261bebd g.chr7:2409186C>A uc003slx.2 + 10 1566 c.1483C>A c.(1483-1485)CTG>ATG p.L495M EIF3B_uc003sly.2_Missense_Mutation_p.L495M|EIF3B_uc003sma.2_Missense_Mutation_p.L223M NM_003751 NP_003742 P55884 EIF3B_HUMAN eukaryotic translation initiation factor 3, 495 regulation of translational initiation cytosol|eukaryotic translation initiation factor 3 complex nucleotide binding|protein complex scaffold|translation initiation factor activity 0 Ovarian(82;0.0253) UCEC - Uterine corpus endometrioid carcinoma (27;0.0833)|OV - Ovarian serous cystadenocarcinoma(56;7.76e-14) CAGGGTAACCCTGATGCAGCT 0.488 NA 6 198 0.00116845 0.00202056 1 0 IQCE 23288 broad.mit.edu 37 7 2618149 2618149 + Missense_Mutation SNP G G T TCGA-CV-6945-01A-11D-1912-08 TCGA-CV-6945-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fcfc9b74-5b8a-45b7-97ca-4e477e941e7c 0e82fe21-343e-4c8a-8b59-f1fd2261bebd g.chr7:2618149G>T uc003smo.3 + 8 803 c.619G>T c.(619-621)GAT>TAT p.D207Y IQCE_uc010ksm.1_Missense_Mutation_p.D207Y|IQCE_uc003sml.1_Missense_Mutation_p.D207Y|IQCE_uc011jvy.1_Missense_Mutation_p.D191Y|IQCE_uc011jvz.1_Missense_Mutation_p.D142Y|IQCE_uc003smk.3_Missense_Mutation_p.D191Y|IQCE_uc003smn.3_Missense_Mutation_p.D142Y NM_152558 NP_689771 Q6IPM2 IQCE_HUMAN IQ motif containing E isoform 1 207 Potential. 0 Ovarian(82;0.0112) OV - Ovarian serous cystadenocarcinoma(56;1.23e-13) GAAAAGGCCCGATGCCAGTTG 0.587 NA 28 77 1.43e-11 2.85e-11 1 0 TMEM106B 54664 broad.mit.edu 37 7 12263867 12263867 + Missense_Mutation SNP G G A TCGA-CV-6945-01A-11D-1912-08 TCGA-CV-6945-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fcfc9b74-5b8a-45b7-97ca-4e477e941e7c 0e82fe21-343e-4c8a-8b59-f1fd2261bebd g.chr7:12263867G>A uc011jxk.1 + 5 697 c.297G>A c.(295-297)ATG>ATA p.M99I TMEM106B_uc003ssh.2_Missense_Mutation_p.M99I NM_018374 NP_060844 Q9NUM4 T106B_HUMAN transmembrane protein 106B 99 Helical; (Potential). integral to membrane 0 UCEC - Uterine corpus endometrioid carcinoma (126;0.185) TGTATGTGATGGCTTCTGTGT 0.388 NA 50 169 0 0 0 0 PCLO 27445 broad.mit.edu 37 7 82584801 82584801 + Missense_Mutation SNP G G A TCGA-CV-6945-01A-11D-1912-08 TCGA-CV-6945-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fcfc9b74-5b8a-45b7-97ca-4e477e941e7c 0e82fe21-343e-4c8a-8b59-f1fd2261bebd g.chr7:82584801G>A uc003uhx.2 - 5 5757 c.5468C>T c.(5467-5469)CCA>CTA p.P1823L PCLO_uc003uhv.2_Missense_Mutation_p.P1823L NM_033026 NP_149015 Q9Y6V0 PCLO_HUMAN piccolo isoform 1 1754 cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity ovary(7) 7 TGGTGTCTTTGGCCTTTCCCT 0.423 NA 43 149 0 0 0 0 ADAM22 53616 broad.mit.edu 37 7 87785302 87785302 + Nonsense_Mutation SNP G G T TCGA-CV-6945-01A-11D-1912-08 TCGA-CV-6945-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fcfc9b74-5b8a-45b7-97ca-4e477e941e7c 0e82fe21-343e-4c8a-8b59-f1fd2261bebd g.chr7:87785302G>T uc003ujn.2 + 22 1967 c.1888G>T c.(1888-1890)GGA>TGA p.G630* ADAM22_uc003ujk.1_Nonsense_Mutation_p.G630*|ADAM22_uc003ujl.1_Nonsense_Mutation_p.G630*|ADAM22_uc003ujm.2_Nonsense_Mutation_p.G630*|ADAM22_uc003ujo.2_Nonsense_Mutation_p.G630*|ADAM22_uc003ujp.1_Nonsense_Mutation_p.G682* NM_021723 NP_068369 Q9P0K1 ADA22_HUMAN ADAM metallopeptidase domain 22 isoform 1 630 Cys-rich.|Extracellular (Potential). cell adhesion|central nervous system development|negative regulation of cell adhesion|proteolysis integral to membrane integrin binding|metalloendopeptidase activity|protein binding|receptor activity|zinc ion binding ovary(4)|skin(2)|lung(1)|kidney(1) 8 Esophageal squamous(14;0.00202) STAD - Stomach adenocarcinoma(171;0.215) TGTGCAGCAAGGAAGAACATT 0.383 NA 19 56 5.35e-07 1e-06 1 0 CCDC132 55610 broad.mit.edu 37 7 92905483 92905483 + Missense_Mutation SNP A A G TCGA-CV-6945-01A-11D-1912-08 TCGA-CV-6945-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fcfc9b74-5b8a-45b7-97ca-4e477e941e7c 0e82fe21-343e-4c8a-8b59-f1fd2261bebd g.chr7:92905483A>G uc003umo.2 + 12 936 c.808A>G c.(808-810)ATG>GTG p.M270V CCDC132_uc003umq.2_RNA|CCDC132_uc003ump.2_Missense_Mutation_p.M240V|CCDC132_uc003umr.2_RNA|CCDC132_uc011khz.1_Intron|CCDC132_uc003umn.2_Missense_Mutation_p.M270V NM_017667 NP_060137 Q96JG6 CC132_HUMAN coiled-coil domain containing 132 isoform a 270 0 all_cancers(62;2.64e-11)|all_epithelial(64;1.4e-10)|Breast(17;0.000675)|Lung NSC(181;0.0618)|all_lung(186;0.0837) STAD - Stomach adenocarcinoma(171;0.000302) ACAGACAGCAATGGATCAACT 0.343 NA 26 55 0 0 0 0 ASNS 440 broad.mit.edu 37 7 97482391 97482391 + Missense_Mutation SNP T T A TCGA-CV-6945-01A-11D-1912-08 TCGA-CV-6945-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fcfc9b74-5b8a-45b7-97ca-4e477e941e7c 0e82fe21-343e-4c8a-8b59-f1fd2261bebd g.chr7:97482391T>A uc003uot.3 - 12 1963 c.1457A>T c.(1456-1458)CAG>CTG p.Q486L ASNS_uc011kin.1_Missense_Mutation_p.Q403L|ASNS_uc003uou.3_Missense_Mutation_p.Q486L|ASNS_uc003uov.3_Missense_Mutation_p.Q486L|ASNS_uc011kio.1_Missense_Mutation_p.Q465L|ASNS_uc003uow.3_Missense_Mutation_p.Q465L|ASNS_uc003uox.3_Missense_Mutation_p.Q403L NM_133436 NP_597680 P08243 ASNS_HUMAN asparagine synthetase 486 Asparagine synthetase. cellular response to glucose starvation|glutamine metabolic process|negative regulation of apoptosis|positive regulation of mitotic cell cycle cytosol|soluble fraction asparagine synthase (glutamine-hydrolyzing) activity|ATP binding ovary(1) 1 all_cancers(62;6.64e-09)|all_epithelial(64;1.58e-09)|Esophageal squamous(72;0.00448)|Lung NSC(181;0.0342)|all_lung(186;0.0369) Adenosine triphosphate(DB00171)|L-Asparagine(DB00174)|L-Aspartic Acid(DB00128)|L-Glutamic Acid(DB00142)|L-Glutamine(DB00130) AACGTATTCCTGTAAAATCTT 0.358 NA 7 29 0 0 0 0 BAIAP2L1 55971 broad.mit.edu 37 7 97939786 97939786 + Missense_Mutation SNP G G A TCGA-CV-6945-01A-11D-1912-08 TCGA-CV-6945-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fcfc9b74-5b8a-45b7-97ca-4e477e941e7c 0e82fe21-343e-4c8a-8b59-f1fd2261bebd g.chr7:97939786G>A uc003upj.2 - 9 1189 c.926C>T c.(925-927)CCG>CTG p.P309L NM_018842 NP_061330 Q9UHR4 BI2L1_HUMAN BAI1-associated protein 2-like 1 309 filopodium assembly|positive regulation of actin cytoskeleton reorganization|positive regulation of actin filament polymerization|response to bacterium|signal transduction cell junction|cytoskeleton|cytosol|nucleus actin binding|cytoskeletal adaptor activity|proline-rich region binding|SH3 domain binding ovary(1) 1 all_cancers(62;4.34e-10)|all_epithelial(64;5e-10)|Esophageal squamous(72;0.00918)|Lung NSC(181;0.0113)|all_lung(186;0.0126) STAD - Stomach adenocarcinoma(171;0.215) TTGTGAATTCGGGGCAGCCGT 0.398 NA 11 40 0 0 0 0 LAMB4 22798 broad.mit.edu 37 7 107674717 107674717 + Missense_Mutation SNP C C G TCGA-CV-6945-01A-11D-1912-08 TCGA-CV-6945-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fcfc9b74-5b8a-45b7-97ca-4e477e941e7c 0e82fe21-343e-4c8a-8b59-f1fd2261bebd g.chr7:107674717C>G uc010ljo.1 - 31 4838 c.4754G>C c.(4753-4755)CGG>CCG p.R1585P LAMB4_uc003vey.2_Missense_Mutation_p.R1585P|LAMB4_uc010ljp.1_Missense_Mutation_p.R554P NM_007356 NP_031382 A4D0S4 LAMB4_HUMAN laminin, beta 4 precursor 1585 Potential.|Domain I. cell adhesion basement membrane ovary(4)|breast(2)|large_intestine(1)|skin(1) 8 AGAGTTTGCCCGTCCTTGAGT 0.338 NA 30 89 0 0 0 0 TAS2R38 5726 broad.mit.edu 37 7 141673487 141673487 + Missense_Mutation SNP C C T TCGA-CV-6945-01A-11D-1912-08 TCGA-CV-6945-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fcfc9b74-5b8a-45b7-97ca-4e477e941e7c 0e82fe21-343e-4c8a-8b59-f1fd2261bebd g.chr7:141673487C>T uc003vwx.1 - 1 87 c.3G>A c.(1-3)ATG>ATA p.M1I NM_176817 NP_789787 P59533 T2R38_HUMAN taste receptor, type 2, member 38 1 Extracellular (Potential). sensory perception of taste integral to membrane G-protein coupled receptor activity kidney(1)|skin(1) 2 Melanoma(164;0.0171) TTAGAGTCAACATGATGTCAC 0.448 NA 17 51 0 0 0 0 ZNF786 136051 broad.mit.edu 37 7 148767797 148767797 + Silent SNP C C A TCGA-CV-6945-01A-11D-1912-08 TCGA-CV-6945-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fcfc9b74-5b8a-45b7-97ca-4e477e941e7c 0e82fe21-343e-4c8a-8b59-f1fd2261bebd g.chr7:148767797C>A uc003wfh.2 - 4 2204 c.2067G>T c.(2065-2067)GCG>GCT p.A689A ZNF786_uc011kuk.1_Silent_p.A652A|ZNF786_uc003wfi.2_Silent_p.A603A NM_152411 NP_689624 Q8N393 ZN786_HUMAN zinc finger protein 786 689 C2H2-type 14. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(3)|skin(1) 4 Melanoma(164;0.15) OV - Ovarian serous cystadenocarcinoma(82;0.00463) TGAGCAGCTGCGCCTTCAGGC 0.557 NA 53 141 1.4e-22 2.98e-22 1 0 SLCO5A1 81796 broad.mit.edu 37 8 70744880 70744880 + Missense_Mutation SNP C C A TCGA-CV-6945-01A-11D-1912-08 TCGA-CV-6945-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fcfc9b74-5b8a-45b7-97ca-4e477e941e7c 0e82fe21-343e-4c8a-8b59-f1fd2261bebd g.chr8:70744880C>A uc003xyl.2 - 2 736 c.29G>T c.(28-30)GGG>GTG p.G10V SLCO5A1_uc010lzb.2_Missense_Mutation_p.G10V|SLCO5A1_uc011lfa.1_RNA|SLCO5A1_uc003xyk.2_Missense_Mutation_p.G10V|SLCO5A1_uc010lzc.2_Missense_Mutation_p.G10V NM_030958 NP_112220 Q9H2Y9 SO5A1_HUMAN solute carrier organic anion transporter family, 10 Cytoplasmic (Potential). integral to membrane|plasma membrane transporter activity ovary(3)|upper_aerodigestive_tract(1) 4 Breast(64;0.0654) Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594) CTCTCCCGCCCCGGGCTGCAG 0.617 NA OREG0018815 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 23 71 7.38e-10 1.43e-09 1 0 CA2 760 broad.mit.edu 37 8 86385963 86385963 + Missense_Mutation SNP C C G TCGA-CV-6945-01A-11D-1912-08 TCGA-CV-6945-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fcfc9b74-5b8a-45b7-97ca-4e477e941e7c 0e82fe21-343e-4c8a-8b59-f1fd2261bebd g.chr8:86385963C>G uc003ydk.2 + 3 454 c.274C>G c.(274-276)CAG>GAG p.Q92E NM_000067 NP_000058 P00918 CAH2_HUMAN carbonic anhydrase II 92 Activator. Q -> P (in OPTB3; in Czechoslovakia). one-carbon metabolic process apical part of cell carbonate dehydratase activity|zinc ion binding central_nervous_system(1) 1 Acetazolamide(DB00819)|Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Brinzolamide(DB01194)|Chlorothiazide(DB00880)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Dorzolamide(DB00869)|Ethinamate(DB01031)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Topiramate(DB00273)|Trichlormethiazide(DB01021) CAGATTGATTCAGTTTCACTT 0.289 NA 14 50 0 0 0 0 DCAF4L2 138009 broad.mit.edu 37 8 88886052 88886052 + Missense_Mutation SNP G G T TCGA-CV-6945-01A-11D-1912-08 TCGA-CV-6945-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fcfc9b74-5b8a-45b7-97ca-4e477e941e7c 0e82fe21-343e-4c8a-8b59-f1fd2261bebd g.chr8:88886052G>T uc003ydz.2 - 1 245 c.148C>A c.(148-150)CGT>AGT p.R50S NM_152418 NP_689631 Q8NA75 DC4L2_HUMAN WD repeat domain 21C 50 ovary(1) 1 CAGCTTACACGCAGCTCGCGA 0.502 NA 27 71 3.29e-13 6.71e-13 1 0 ANGPT1 284 broad.mit.edu 37 8 108306199 108306199 + Missense_Mutation SNP G G T TCGA-CV-6945-01A-11D-1912-08 TCGA-CV-6945-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fcfc9b74-5b8a-45b7-97ca-4e477e941e7c 0e82fe21-343e-4c8a-8b59-f1fd2261bebd g.chr8:108306199G>T uc003ymn.2 - 6 1471 c.1003C>A c.(1003-1005)CTA>ATA p.L335I ANGPT1_uc011lhv.1_Missense_Mutation_p.L135I|ANGPT1_uc003ymo.2_Missense_Mutation_p.L334I|ANGPT1_uc003ymp.3_Missense_Mutation_p.L134I NM_001146 NP_001137 Q15389 ANGP1_HUMAN angiopoietin 1 precursor 335 Fibrinogen C-terminal. activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|blood coagulation|cell differentiation|heparin biosynthetic process|leukocyte migration|negative regulation of cell adhesion|negative regulation of endothelial cell apoptosis|negative regulation of vascular permeability|positive chemotaxis|positive regulation of blood vessel endothelial cell migration|positive regulation of ERK1 and ERK2 cascade|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of protein ubiquitination|positive regulation of receptor internalization|protein localization at cell surface|regulation of satellite cell proliferation|sprouting angiogenesis|Tie receptor signaling pathway extracellular space|membrane raft|microvillus|plasma membrane receptor tyrosine kinase binding ovary(3)|skin(3)|upper_aerodigestive_tract(1) 7 Breast(1;5.06e-08) OV - Ovarian serous cystadenocarcinoma(57;5.53e-09) TGGAAATCTAGACTTCCATCT 0.348 NA 10 82 7.48e-07 1.39e-06 1 0 CSMD3 114788 broad.mit.edu 37 8 114326998 114326998 + Missense_Mutation SNP G G C TCGA-CV-6945-01A-11D-1912-08 TCGA-CV-6945-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fcfc9b74-5b8a-45b7-97ca-4e477e941e7c 0e82fe21-343e-4c8a-8b59-f1fd2261bebd g.chr8:114326998G>C uc003ynu.2 - 2 362 c.203C>G c.(202-204)ACT>AGT p.T68S CSMD3_uc003ynt.2_Missense_Mutation_p.T28S|CSMD3_uc011lhx.1_Missense_Mutation_p.T68S|CSMD3_uc010mcx.1_Missense_Mutation_p.T68S|CSMD3_uc003ynx.3_Missense_Mutation_p.T68S NM_198123 NP_937756 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 isoform 1 68 Extracellular (Potential).|CUB 1. 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 TCCTTTTAAAGTTCCACCACA 0.308 NA HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 7 138 0 0 0 0 ASAP1 50807 broad.mit.edu 37 8 131127924 131127924 + Missense_Mutation SNP T T C TCGA-CV-6945-01A-11D-1912-08 TCGA-CV-6945-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fcfc9b74-5b8a-45b7-97ca-4e477e941e7c 0e82fe21-343e-4c8a-8b59-f1fd2261bebd g.chr8:131127924T>C uc003yta.1 - 22 2150 c.2122A>G c.(2122-2124)AAT>GAT p.N708D ASAP1_uc003ysz.1_Missense_Mutation_p.N519D|ASAP1_uc011liw.1_Missense_Mutation_p.N701D NM_018482 NP_060952 Q9ULH1 ASAP1_HUMAN development and differentiation enhancing factor 708 cilium morphogenesis|filopodium assembly|regulation of ARF GTPase activity|signal transduction cytoplasm|membrane ARF GTPase activator activity|cytoskeletal adaptor activity|SH3 domain binding|zinc ion binding ovary(4) 4 TGTCGAAGATTCCACTCATAT 0.413 NA 36 298 0 0 0 0 FAM135B 51059 broad.mit.edu 37 8 139160820 139160820 + Missense_Mutation SNP C C T TCGA-CV-6945-01A-11D-1912-08 TCGA-CV-6945-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fcfc9b74-5b8a-45b7-97ca-4e477e941e7c 0e82fe21-343e-4c8a-8b59-f1fd2261bebd g.chr8:139160820C>T uc003yuy.2 - 14 3562 c.3391G>A c.(3391-3393)GAG>AAG p.E1131K FAM135B_uc003yux.2_Missense_Mutation_p.E1032K|FAM135B_uc003yuz.2_RNA|FAM135B_uc003yva.2_Missense_Mutation_p.E693K|FAM135B_uc003yvb.2_Missense_Mutation_p.R658K NM_015912 NP_056996 Q49AJ0 F135B_HUMAN hypothetical protein LOC51059 1131 ovary(7)|skin(2) 9 all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0805) TTTTCTTCCTCTTCCTCTGGT 0.373 NA HNSCC(54;0.14) 5 23 0 0 0 0 CHRAC1 54108 broad.mit.edu 37 8 141521631 141521631 + Silent SNP C C A TCGA-CV-6945-01A-11D-1912-08 TCGA-CV-6945-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fcfc9b74-5b8a-45b7-97ca-4e477e941e7c 0e82fe21-343e-4c8a-8b59-f1fd2261bebd g.chr8:141521631C>A uc003yvl.2 + 1 231 c.33C>A c.(31-33)GGC>GGA p.G11G CHRAC1_uc010mem.1_RNA NM_017444 NP_059140 Q9NRG0 CHRC1_HUMAN chromatin accessibility complex 1 11 chromatin remodeling chromatin accessibility complex|epsilon DNA polymerase complex DNA-directed DNA polymerase activity|sequence-specific DNA binding ovary(1) 1 all_cancers(97;5.52e-16)|all_epithelial(106;1.22e-13)|Lung NSC(106;4.09e-06)|all_lung(105;6e-06)|Ovarian(258;0.0154)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.107) AAGACAAGGGCGGGGAGCAGC 0.697 NA 6 7 0.00116845 0.00202056 1 0 RECQL4 9401 broad.mit.edu 37 8 145738093 145738093 + Silent SNP C C T TCGA-CV-6945-01A-11D-1912-08 TCGA-CV-6945-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fcfc9b74-5b8a-45b7-97ca-4e477e941e7c 0e82fe21-343e-4c8a-8b59-f1fd2261bebd g.chr8:145738093C>T uc003zdj.2 - 17 2849 c.2817G>A c.(2815-2817)GCG>GCA p.A939A NM_004260 NP_004251 O94761 RECQ4_HUMAN RecQ protein-like 4 939 DNA duplex unwinding|DNA recombination|DNA repair cytoplasm|nucleus ATP binding|ATP-dependent 3'-5' DNA helicase activity|bubble DNA binding|DNA strand annealing activity|zinc ion binding breast(2)|lung(1)|skin(1) 4 all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055) TATAGGTGGTCGCCAGCAGCT 0.672 NA N|F|S osteosarcoma|skin basal and sqamous cell Genes_defective_in_diseases_associated_with_sensitivity_to_DNA_damaging_agents RAPADILINO_syndrome|Rothmund-Thomson_syndrome|Baller-Gerold_syndrome 5 35 0 0 0 0 CDKN2A 1029 broad.mit.edu 37 9 21971186 21971186 + Nonsense_Mutation SNP G G A rs121913387 TCGA-CV-6945-01A-11D-1912-08 TCGA-CV-6945-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fcfc9b74-5b8a-45b7-97ca-4e477e941e7c 0e82fe21-343e-4c8a-8b59-f1fd2261bebd g.chr9:21971186G>A uc003zpk.2 - 2 384 c.172C>T c.(172-174)CGA>TGA p.R58* MTAP_uc003zpi.1_Intron|CDKN2A_uc003zpj.2_3'UTR|CDKN2A_uc010miu.2_RNA|CDKN2A_uc003zpl.2_Missense_Mutation_p.P113L NM_000077 NP_000068 P42771 CD2A1_HUMAN cyclin-dependent kinase inhibitor 2A isoform 1 58 ANK 2. cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence cytosol|nucleus cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein binding|protein kinase binding p.0?(1112)|p.R58*(68)|p.?(14)|p.M53_R58del(3)|p.R58fs*59(2)|p.M54fs*61(2)|p.R58fs*89(1)|p.R58R(1)|p.V28_V51del(1)|p.A57_R58>V*(1)|p.R58fs*61(1)|p.R58fs*62(1)|p.G55fs*86(1)|p.R58Q(1)|p.P113L(1)|p.A57fs*85(1) haematopoietic_and_lymphoid_tissue(647)|skin(419)|upper_aerodigestive_tract(414)|central_nervous_system(381)|lung(325)|pancreas(244)|oesophagus(230)|urinary_tract(225)|pleura(94)|liver(91)|soft_tissue(79)|bone(77)|ovary(76)|biliary_tract(71)|stomach(46)|breast(46)|kidney(39)|NS(28)|thyroid(24)|cervix(23)|meninges(18)|genital_tract(15)|endometrium(13)|prostate(11)|autonomic_ganglia(10)|salivary_gland(10)|large_intestine(9)|adrenal_gland(6)|eye(4)|vulva(2)|small_intestine(1) 3678 all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172) all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05) TCCGCCACTCGGGCGCTGCCC 0.677 17 Uveal_Melanoma_Familial|Familial_Malignant_Melanoma_and_Tumors_of_the_Nervous_System|Hereditary_Melanoma HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07) 7 8 0 0 0 0 UBAP1 51271 broad.mit.edu 37 9 34249862 34249862 + Missense_Mutation SNP C C T TCGA-CV-6945-01A-11D-1912-08 TCGA-CV-6945-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fcfc9b74-5b8a-45b7-97ca-4e477e941e7c 0e82fe21-343e-4c8a-8b59-f1fd2261bebd g.chr9:34249862C>T uc003ztx.2 + 5 1404 c.1169C>T c.(1168-1170)CCC>CTC p.P390L UBAP1_uc010mka.1_Missense_Mutation_p.P426L|UBAP1_uc003zty.2_Missense_Mutation_p.P390L|UBAP1_uc011loi.1_Missense_Mutation_p.P426L|UBAP1_uc011loj.1_Missense_Mutation_p.P454L|KIF24_uc010mkb.2_Intron|UBAP1_uc003ztz.2_Missense_Mutation_p.P390L NM_016525 NP_057609 Q9NZ09 UBAP1_HUMAN ubiquitin associated protein 1 390 UBA 1. cytoplasm 0 LUSC - Lung squamous cell carcinoma(29;0.00272) ATGCTGTCCCCCAGCGAGCGG 0.532 NA 39 57 0 0 0 0 ECM2 1842 broad.mit.edu 37 9 95277012 95277012 + Missense_Mutation SNP C C T TCGA-CV-6945-01A-11D-1912-08 TCGA-CV-6945-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fcfc9b74-5b8a-45b7-97ca-4e477e941e7c 0e82fe21-343e-4c8a-8b59-f1fd2261bebd g.chr9:95277012C>T uc004ash.2 - 4 1020 c.955G>A c.(955-957)GGG>AGG p.G319R CENPP_uc004arz.2_Intron|CENPP_uc010mqx.2_Intron|ECM2_uc004asf.3_Missense_Mutation_p.G297R|ECM2_uc011lty.1_Missense_Mutation_p.G319R|ECM2_uc004asg.2_Missense_Mutation_p.G297R NM_001393 NP_001384 O94769 ECM2_HUMAN extracellular matrix protein 2 precursor 319 LRRNT. cell-matrix adhesion integrin binding ovary(1)|skin(1) 2 AGAGAGCACCCGCTTGGCAGG 0.532 NA 22 36 0 0 0 0 DBC1 1620 broad.mit.edu 37 9 122011377 122011377 + Silent SNP C C T TCGA-CV-6945-01A-11D-1912-08 TCGA-CV-6945-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fcfc9b74-5b8a-45b7-97ca-4e477e941e7c 0e82fe21-343e-4c8a-8b59-f1fd2261bebd g.chr9:122011377C>T uc004bkc.2 - 3 726 c.270G>A c.(268-270)CTG>CTA p.L90L DBC1_uc004bkd.2_Silent_p.L90L NM_014618 NP_055433 O60477 DBC1_HUMAN deleted in bladder cancer 1 precursor 90 MACPF. cell cycle arrest|cell death cytoplasm protein binding skin(3)|ovary(2)|central_nervous_system(2)|large_intestine(1) 8 GATGGCGGACCAGATCTCTCC 0.532 NA 16 26 0 0 0 0 ASMTL 8623 broad.mit.edu 37 X 1538002 1538002 + Silent SNP C C T TCGA-CV-6945-01A-11D-1912-08 TCGA-CV-6945-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fcfc9b74-5b8a-45b7-97ca-4e477e941e7c 0e82fe21-343e-4c8a-8b59-f1fd2261bebd g.chrX:1538002C>T uc004cpx.1 - 10 1362 c.1251G>A c.(1249-1251)GCG>GCA p.A417A ASMTL_uc011mhe.1_Silent_p.A341A|ASMTL_uc004cpy.1_Silent_p.A401A|ASMTL_uc011mhf.1_Silent_p.A359A NM_004192 NP_004183 O95671 ASML_HUMAN acetylserotonin O-methyltransferase-like 417 ASMT-like. melatonin biosynthetic process cytoplasm acetylserotonin O-methyltransferase activity 0 all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122) TCTGGTAGTACGCATCCTGGA 0.667 NA 7 40 0 0 0 0 FAM47C 442444 broad.mit.edu 37 X 37027194 37027194 + Silent SNP G G A TCGA-CV-6945-01A-11D-1912-08 TCGA-CV-6945-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fcfc9b74-5b8a-45b7-97ca-4e477e941e7c 0e82fe21-343e-4c8a-8b59-f1fd2261bebd g.chrX:37027194G>A uc004ddl.1 + 1 725 c.711G>A c.(709-711)GAG>GAA p.E237E NM_001013736 NP_001013758 Q5HY64 FA47C_HUMAN hypothetical protein LOC442444 237 ovary(3) 3 TCCACCTGGAGCCTCCAGAGA 0.632 NA 37 15 0 0 0 0 DUSP21 63904 broad.mit.edu 37 X 44703891 44703891 + Silent SNP G G C TCGA-CV-6945-01A-11D-1912-08 TCGA-CV-6945-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fcfc9b74-5b8a-45b7-97ca-4e477e941e7c 0e82fe21-343e-4c8a-8b59-f1fd2261bebd g.chrX:44703891G>C uc004dgd.2 + 1 643 c.513G>C c.(511-513)TCG>TCC p.S171S NM_022076 NP_071359 Q9H596 DUS21_HUMAN dual specificity phosphatase 21 171 cytoplasm|nucleus MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity large_intestine(1)|lung(1) 2 TGATCAACTCGCCGGTAGGTA 0.512 NA 13 35 0 0 0 0 ZXDA 7789 broad.mit.edu 37 X 57935809 57935809 + Missense_Mutation SNP G G A TCGA-CV-6945-01A-11D-1912-08 TCGA-CV-6945-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fcfc9b74-5b8a-45b7-97ca-4e477e941e7c 0e82fe21-343e-4c8a-8b59-f1fd2261bebd g.chrX:57935809G>A uc004dve.2 - 1 1259 c.1046C>T c.(1045-1047)GCG>GTG p.A349V NM_007156 NP_009087 P98168 ZXDA_HUMAN zinc finger, X-linked, duplicated A 349 C2H2-type 3.|Required for interaction with ZXDC. positive regulation of transcription, DNA-dependent nucleus C2H2 zinc finger domain binding|identical protein binding|nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1) 1 CTTCATGTGCGCCTTGAGGTT 0.617 NA 16 23 0 0 0 0 AR 367 broad.mit.edu 37 X 66765158 66765158 + Missense_Mutation SNP T T A rs78686797 TCGA-CV-6945-01A-11D-1912-08 TCGA-CV-6945-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fcfc9b74-5b8a-45b7-97ca-4e477e941e7c 0e82fe21-343e-4c8a-8b59-f1fd2261bebd g.chrX:66765158T>A uc004dwu.1 + 1 1285 c.170T>A c.(169-171)CTG>CAG p.L57Q AR_uc011mpd.1_Missense_Mutation_p.L57Q|AR_uc011mpe.1_RNA|AR_uc011mpf.1_Missense_Mutation_p.L57Q NM_000044 NP_000035 P10275 ANDR_HUMAN androgen receptor isoform 1 57 Poly-Leu.|Modulating. L -> Q (in prostate cancer). cell death|cell growth|cell proliferation|cell-cell signaling|negative regulation of apoptosis|negative regulation of integrin biosynthetic process|positive regulation of cell proliferation|positive regulation of integrin biosynthetic process|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphorylation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|regulation of establishment of protein localization in plasma membrane|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transport cytoplasm|nuclear chromatin|nucleoplasm androgen binding|androgen receptor activity|beta-catenin binding|enzyme binding|ligand-regulated transcription factor activity|protein dimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding ovary(3)|lung(2)|breast(2)|central_nervous_system(1) 8 all_cancers(1;0.173)|Prostate(1;2.27e-16)|all_epithelial(1;0.102) all_lung(315;1.3e-11) Bicalutamide(DB01128)|Cyproterone(DB04839)|Dromostanolone(DB00858)|Finasteride(DB01216)|Fluoxymesterone(DB01185)|Flutamide(DB00499)|Nandrolone(DB00984)|Nilutamide(DB00665)|Oxandrolone(DB00621)|Testosterone(DB00624) TTGCTGCTGCTgcagcagcag 0.338 NA Androgen_Insensitivity_Syndrome 5 19 0 0 0 0 KIAA2022 340533 broad.mit.edu 37 X 73962796 73962796 + Silent SNP G G C TCGA-CV-6945-01A-11D-1912-08 TCGA-CV-6945-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fcfc9b74-5b8a-45b7-97ca-4e477e941e7c 0e82fe21-343e-4c8a-8b59-f1fd2261bebd g.chrX:73962796G>C uc004eby.2 - 3 2213 c.1596C>G c.(1594-1596)ACC>ACG p.T532T NM_001008537 NP_001008537 Q5QGS0 K2022_HUMAN hypothetical protein LOC340533 532 base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|S phase of mitotic cell cycle delta DNA polymerase complex 3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity ovary(7)|large_intestine(4)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1) 15 GCTCCTTACGGGTTACTTTTC 0.418 NA 17 9 0 0 0 0 MAGT1 84061 broad.mit.edu 37 X 77112989 77112989 + Missense_Mutation SNP G G T TCGA-CV-6945-01A-11D-1912-08 TCGA-CV-6945-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fcfc9b74-5b8a-45b7-97ca-4e477e941e7c 0e82fe21-343e-4c8a-8b59-f1fd2261bebd g.chrX:77112989G>T uc004fof.2 - 4 554 c.492C>A c.(490-492)AAC>AAA p.N164K MAGT1_uc004fog.3_RNA NM_032121 NP_115497 Q9H0U3 MAGT1_HUMAN magnesium transporter 1 132 protein N-linked glycosylation via asparagine integral to membrane|oligosaccharyltransferase complex upper_aerodigestive_tract(1) 1 CTGAATTCATGTTTAGCTGAA 0.338 NA 10 82 0.00185496 0.00318442 1 0 BEX5 340542 broad.mit.edu 37 X 101408934 101408934 + Missense_Mutation SNP C C T TCGA-CV-6945-01A-11D-1912-08 TCGA-CV-6945-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fcfc9b74-5b8a-45b7-97ca-4e477e941e7c 0e82fe21-343e-4c8a-8b59-f1fd2261bebd g.chrX:101408934C>T uc010nnz.2 - 3 606 c.304G>A c.(304-306)GAT>AAT p.D102N BEX5_uc004eir.2_Missense_Mutation_p.D102N NM_001159560 NP_001153032 Q5H9J7 BEX5_HUMAN brain expressed, X-linked 5 102 cytoplasm upper_aerodigestive_tract(1) 1 TCATGATGATCATGGTGAGGA 0.418 NA 36 25 0 0 0 0 IRF9 10379 broad.mit.edu 37 14 24631429 24631450 + Frame_Shift_Del DEL CCCGGAGTGTGCTGGGATGATA CCCGGAGTGTGCTGGGATGATA - rs145197850 byFrequency TCGA-CV-6945-01A-11D-1912-08 TCGA-CV-6945-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fcfc9b74-5b8a-45b7-97ca-4e477e941e7c 0e82fe21-343e-4c8a-8b59-f1fd2261bebd g.chr14:24631429_24631450delCCCGGAGTGTGCTGGGATGATA uc001wmq.2 + 2 203_224 c.76_97delCCCGGAGTGTGCTGGGATGATA c.(76-99)CCCGGAGTGTGCTGGGATGATACAfs p.P26fs RNF31_uc001wmp.2_RNA|IRF9_uc010alj.2_5'Flank NM_006084 NP_006075 Q00978 IRF9_HUMAN interferon-stimulated transcription factor 3, 26_33 IRF tryptophan pentad repeat. interferon-gamma-mediated signaling pathway|response to virus|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway cytosol|nucleoplasm DNA binding|identical protein binding|sequence-specific DNA binding transcription factor activity ovary(1) 1 GBM - Glioblastoma multiforme(265;0.00853) TGGGCAGTTTCCCGGAGTGTGCTGGGATGATACAGCTAAGAC 0.572 NA 23 132 --- --- --- --- NA NA NA NA C17orf53 78995 broad.mit.edu 37 17 42230139 42230145 + Frame_Shift_Del DEL GCGCAAG GCGCAAG - TCGA-CV-6945-01A-11D-1912-08 TCGA-CV-6945-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fcfc9b74-5b8a-45b7-97ca-4e477e941e7c 0e82fe21-343e-4c8a-8b59-f1fd2261bebd g.chr17:42230139_42230145delGCGCAAG uc002ifi.1 + 5 1628_1634 c.1443_1449delGCGCAAG c.(1441-1449)CTGCGCAAGfs p.L481fs C17orf53_uc010czq.1_Frame_Shift_Del_p.L481fs|C17orf53_uc002ifj.1_Intron|C17orf53_uc002ifk.1_Intron NM_024032 NP_076937 Q8N3J3 CQ053_HUMAN hypothetical protein LOC78995 481_483 0 Breast(137;0.0364)|Prostate(33;0.0376) BRCA - Breast invasive adenocarcinoma(366;0.114) TCATGGTGCTGCGCAAGGTAAGGATTC 0.541 NA 14 82 --- --- --- --- NA NA NA NA CACNA1G 8913 broad.mit.edu 37 17 48653249 48653251 + In_Frame_Del DEL CAC CAC - TCGA-CV-6945-01A-11D-1912-08 TCGA-CV-6945-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fcfc9b74-5b8a-45b7-97ca-4e477e941e7c 0e82fe21-343e-4c8a-8b59-f1fd2261bebd g.chr17:48653249_48653251delCAC uc002irk.1 + 8 1858_1860 c.1486_1488delCAC c.(1486-1488)CACdel p.H504del CACNA1G_uc002iri.1_In_Frame_Del_p.H504del|CACNA1G_uc002irj.1_In_Frame_Del_p.H504del|CACNA1G_uc002irl.1_In_Frame_Del_p.H504del|CACNA1G_uc002irm.1_In_Frame_Del_p.H504del|CACNA1G_uc002irn.1_In_Frame_Del_p.H504del|CACNA1G_uc002iro.1_In_Frame_Del_p.H504del|CACNA1G_uc002irp.1_In_Frame_Del_p.H504del|CACNA1G_uc002irq.1_In_Frame_Del_p.H504del|CACNA1G_uc002irr.1_In_Frame_Del_p.H504del|CACNA1G_uc002irs.1_In_Frame_Del_p.H504del|CACNA1G_uc002irt.1_In_Frame_Del_p.H504del|CACNA1G_uc002irv.1_In_Frame_Del_p.H504del|CACNA1G_uc002irw.1_In_Frame_Del_p.H504del|CACNA1G_uc002iru.1_In_Frame_Del_p.H504del|CACNA1G_uc002irx.1_In_Frame_Del_p.H417del|CACNA1G_uc002iry.1_In_Frame_Del_p.H417del|CACNA1G_uc002irz.1_In_Frame_Del_p.H417del|CACNA1G_uc002isa.1_In_Frame_Del_p.H417del|CACNA1G_uc002isb.1_In_Frame_Del_p.H417del|CACNA1G_uc002isc.1_In_Frame_Del_p.H417del|CACNA1G_uc002isd.1_In_Frame_Del_p.H417del|CACNA1G_uc002ise.1_In_Frame_Del_p.H417del|CACNA1G_uc002isf.1_In_Frame_Del_p.H417del|CACNA1G_uc002isg.1_In_Frame_Del_p.H417del|CACNA1G_uc002ish.1_In_Frame_Del_p.H417del|CACNA1G_uc002isi.1_In_Frame_Del_p.H417del NM_018896 NP_061496 O43497 CAC1G_HUMAN voltage-dependent calcium channel alpha 1G 504 Cytoplasmic (Potential).|Poly-His. axon guidance voltage-gated calcium channel complex low voltage-gated calcium channel activity breast(1) 1 Breast(11;6.7e-17) BRCA - Breast invasive adenocarcinoma(22;7.52e-09) Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909) CCACCTGGTGcaccaccaccacc 0.596 NA 2 4 --- --- --- --- NA NA NA NA DAPK3 1613 broad.mit.edu 37 19 3964890 3964890 + Frame_Shift_Del DEL A A - TCGA-CV-6945-01A-11D-1912-08 TCGA-CV-6945-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fcfc9b74-5b8a-45b7-97ca-4e477e941e7c 0e82fe21-343e-4c8a-8b59-f1fd2261bebd g.chr19:3964890delA uc002lzc.1 - 2 255 c.162delT c.(160-162)CGTfs p.R54fs DAPK3_uc002lzd.1_Frame_Shift_Del_p.R54fs NM_001348 NP_001339 O43293 DAPK3_HUMAN death-associated protein kinase 3 54 Protein kinase. apoptosis|chromatin modification|induction of apoptosis|intracellular protein kinase cascade cytoplasm|PML body ATP binding|leucine zipper domain binding|protein serine/threonine kinase activity central_nervous_system(3)|lung(2)|ovary(1)|large_intestine(1) 7 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18) GGCTCACCCCACGCCGGCTGG 0.632 NA 18 58 --- --- --- --- NA NA NA NA NSUN7 79730 broad.mit.edu 37 4 40752855 40752856 + Frame_Shift_Ins INS - - T TCGA-CV-6945-01A-11D-1912-08 TCGA-CV-6945-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fcfc9b74-5b8a-45b7-97ca-4e477e941e7c 0e82fe21-343e-4c8a-8b59-f1fd2261bebd g.chr4:40752855_40752856insT uc003gvj.3 + 2 640_641 c.145_146insT c.(145-147)ATGfs p.M49fs NSUN7_uc003gvh.2_Frame_Shift_Ins_p.M49fs|NSUN7_uc003gvi.3_Frame_Shift_Ins_p.M49fs NM_024677 NP_078953 NOL1/NOP2/Sun domain family, member 7 0 CGTTTATGTCATGGCAGCCAAC 0.515 NA 29 118 --- --- --- --- NA NA NA NA FRYL 285527 broad.mit.edu 37 4 48550722 48550724 + In_Frame_Del DEL GAA GAA - TCGA-CV-6945-01A-11D-1912-08 TCGA-CV-6945-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fcfc9b74-5b8a-45b7-97ca-4e477e941e7c 0e82fe21-343e-4c8a-8b59-f1fd2261bebd g.chr4:48550722_48550724delGAA uc003gyh.1 - 40 5476_5478 c.4871_4873delTTC c.(4870-4875)CTTCAT>CAT p.L1624del FRYL_uc003gyg.1_In_Frame_Del_p.L320del|FRYL_uc003gyi.1_In_Frame_Del_p.L513del|FRYL_uc003gyj.1_5'Flank NM_015030 NP_055845 O94915 FRYL_HUMAN furry-like 1624 regulation of transcription, DNA-dependent|transcription, DNA-dependent protein binding skin(1) 1 AAAATTGCATGAAGAAGAAGATG 0.31 NA 12 39 --- --- --- --- NA NA NA NA THBS2 7058 broad.mit.edu 37 6 169648982 169648983 + Frame_Shift_Del DEL CG CG - TCGA-CV-6945-01A-11D-1912-08 TCGA-CV-6945-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fcfc9b74-5b8a-45b7-97ca-4e477e941e7c 0e82fe21-343e-4c8a-8b59-f1fd2261bebd g.chr6:169648982_169648983delCG uc003qwt.2 - 4 386_387 c.138_139delCG c.(136-141)CGCGGGfs p.R46fs NM_003247 NP_003238 P35442 TSP2_HUMAN thrombospondin 2 precursor 46_47 TSP N-terminal.|Heparin-binding (Potential). cell adhesion extracellular region calcium ion binding|heparin binding|protein binding|structural molecule activity ovary(5) 5 Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247) OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379) GGGTCGGGCCCGCGGAACTGCT 0.584 NA 24 34 --- --- --- --- NA NA NA NA PSIP1 11168 broad.mit.edu 37 9 15478476 15478485 + Frame_Shift_Del DEL TGTCACTCTC TGTCACTCTC - TCGA-CV-6945-01A-11D-1912-08 TCGA-CV-6945-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fcfc9b74-5b8a-45b7-97ca-4e477e941e7c 0e82fe21-343e-4c8a-8b59-f1fd2261bebd g.chr9:15478476_15478485delTGTCACTCTC uc003zlv.3 - 8 949_958 c.619_628delGAGAGTGACA c.(619-630)GAGAGTGACATCfs p.E207fs PSIP1_uc003zlw.3_Frame_Shift_Del_p.E207fs|PSIP1_uc003zlz.3_Frame_Shift_Del_p.E207fs|PSIP1_uc003zma.3_Frame_Shift_Del_p.E198fs|PSIP1_uc003zly.2_Frame_Shift_Del_p.E207fs NM_033222 NP_150091 O75475 PSIP1_HUMAN PC4 and SFRS1 interacting protein 1 isoform 2 207_210 initiation of viral infection|interspecies interaction between organisms|nuclear mRNA 5'-splice site recognition|provirus integration|regulation of transcription, DNA-dependent|response to heat|response to oxidative stress|transcription, DNA-dependent cytosol|nuclear heterochromatin|nuclear periphery|nucleoplasm|nucleoplasm|transcriptionally active chromatin activating transcription factor binding|chromatin binding|DNA secondary structure binding|RNA polymerase II transcription coactivator activity breast(1) 1 GBM - Glioblastoma multiforme(50;2.38e-06) TAAACTCACATGTCACTCTCTGAAGGACAG 0.338 NA 17 69 --- --- --- --- NA NA NA NA NYX 60506 broad.mit.edu 37 X 41333914 41333915 + Frame_Shift_Ins INS - - A TCGA-CV-6945-01A-11D-1912-08 TCGA-CV-6945-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fcfc9b74-5b8a-45b7-97ca-4e477e941e7c 0e82fe21-343e-4c8a-8b59-f1fd2261bebd g.chrX:41333914_41333915insA uc004dfh.2 + 2 1638_1639 c.1208_1209insA c.(1207-1209)CCAfs p.P403fs NYX_uc011mku.1_Frame_Shift_Ins_p.P398fs NM_022567 NP_072089 Q9GZU5 NYX_HUMAN nyctalopin precursor 403 response to stimulus|visual perception intracellular|proteinaceous extracellular matrix lung(2) 2 GGCCCGTCCCCAGAACCAGCGG 0.698 NA 6 12 --- --- --- --- NA NA NA NA