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 SCMH1 22955 broad.mit.edu 37 1 41514424 41514424 + Missense_Mutation SNP G G A TCGA-HD-7753-01A-11D-2078-08 TCGA-HD-7753-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7dc33525-6f57-4b12-9b72-c9c845296ae3 0ca58135-303a-4e85-896e-7f7c75481e42 g.chr1:41514424G>A uc001cgo.2 - 11 1525 c.1214C>T c.(1213-1215)GCT>GTT p.A405V SCMH1_uc010ojr.1_Missense_Mutation_p.A247V|SCMH1_uc001cgp.2_Missense_Mutation_p.A344V|SCMH1_uc001cgr.2_Missense_Mutation_p.A344V|SCMH1_uc001cgs.2_Missense_Mutation_p.A415V|SCMH1_uc001cgt.2_Missense_Mutation_p.A344V|SCMH1_uc001cgq.2_Missense_Mutation_p.A358V|SCMH1_uc010ojs.1_RNA NM_001031694 NP_001026864 Q96GD3 SCMH1_HUMAN sex comb on midleg 1 isoform 1 405 anatomical structure morphogenesis|gene silencing|multicellular organismal development|negative regulation of transcription, DNA-dependent DNA binding|sequence-specific DNA binding transcription factor activity 0 Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)|Breast(333;0.162) Myeloproliferative disorder(586;0.0393) CTGGTGATAAGCACAGTCGAT 0.522 NA 29 60 0 0 0 0 DOCK7 85440 broad.mit.edu 37 1 62921091 62921091 + Silent SNP A A G TCGA-HD-7753-01A-11D-2078-08 TCGA-HD-7753-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7dc33525-6f57-4b12-9b72-c9c845296ae3 0ca58135-303a-4e85-896e-7f7c75481e42 g.chr1:62921091A>G uc001daq.2 - 49 6418 c.6384T>C c.(6382-6384)GAT>GAC p.D2128D DOCK7_uc001dan.2_Silent_p.D1991D|DOCK7_uc001dao.2_Silent_p.D1989D|DOCK7_uc001dap.2_Silent_p.D2108D|DOCK7_uc001dam.2_Silent_p.D1310D NM_033407 NP_212132 Q96N67 DOCK7_HUMAN dedicator of cytokinesis 7 2139 activation of Rac GTPase activity|axonogenesis|establishment of neuroblast polarity|microtubule cytoskeleton organization|positive regulation of peptidyl-serine phosphorylation axon|basal part of cell|growth cone GTP binding|guanyl-nucleotide exchange factor activity|Rac GTPase binding ovary(2) 2 CAGTTTAGAGATCCATTTTGC 0.348 NA 12 28 0 0 0 0 SPAG17 200162 broad.mit.edu 37 1 118584559 118584559 + Missense_Mutation SNP T T C TCGA-HD-7753-01A-11D-2078-08 TCGA-HD-7753-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7dc33525-6f57-4b12-9b72-c9c845296ae3 0ca58135-303a-4e85-896e-7f7c75481e42 g.chr1:118584559T>C uc001ehk.2 - 21 2989 c.2921A>G c.(2920-2922)AAC>AGC p.N974S NM_206996 NP_996879 Q6Q759 SPG17_HUMAN sperm associated antigen 17 974 cilium|flagellar axoneme|microtubule upper_aerodigestive_tract(2)|ovary(2)|large_intestine(1)|skin(1) 6 Esophageal squamous(2;0.0106) all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01) Lung(183;0.0858) TTTCTCTGCGTTATCCTTGCC 0.393 NA 79 192 0 0 0 0 TAGLN2 8407 broad.mit.edu 37 1 159890213 159890213 + Silent SNP G G A TCGA-HD-7753-01A-11D-2078-08 TCGA-HD-7753-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7dc33525-6f57-4b12-9b72-c9c845296ae3 0ca58135-303a-4e85-896e-7f7c75481e42 g.chr1:159890213G>A uc001fum.1 - 1 137 c.87C>T c.(85-87)ATC>ATT p.I29I CCDC19_uc001ful.2_Intron|TAGLN2_uc001fun.1_Silent_p.I29I|TAGLN2_uc001fuo.1_Silent_p.I29I|TAGLN2_uc010piy.1_Silent_p.I29I NM_003564 NP_003555 P37802 TAGL2_HUMAN transgelin 2 29 CH. muscle organ development nuclear membrane|plasma membrane protein binding 0 all_hematologic(112;0.0597) BRCA - Breast invasive adenocarcinoma(70;0.111) ACTGGATCAGGATCTGCTCCA 0.582 NA 11 46 0 0 0 0 BAT2L2 23215 broad.mit.edu 37 1 171509694 171509694 + Missense_Mutation SNP G G T TCGA-HD-7753-01A-11D-2078-08 TCGA-HD-7753-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7dc33525-6f57-4b12-9b72-c9c845296ae3 0ca58135-303a-4e85-896e-7f7c75481e42 g.chr1:171509694G>T uc010pmg.1 + 16 3349 c.3083G>T c.(3082-3084)CGG>CTG p.R1028L BAT2L2_uc010pmh.1_Missense_Mutation_p.R5L NM_015172 NP_055987 Q9Y520 PRC2C_HUMAN HBxAg transactivated protein 2 1028 Potential. protein C-terminus binding 0 AAAGAGGAACGGGAACAGAGG 0.433 NA 11 27 4.69e-08 5.48e-08 1 0 FAM5C 339479 broad.mit.edu 37 1 190067946 190067946 + Silent SNP C C T TCGA-HD-7753-01A-11D-2078-08 TCGA-HD-7753-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7dc33525-6f57-4b12-9b72-c9c845296ae3 0ca58135-303a-4e85-896e-7f7c75481e42 g.chr1:190067946C>T uc001gse.1 - 8 1735 c.1503G>A c.(1501-1503)CTG>CTA p.L501L FAM5C_uc010pot.1_Silent_p.L399L NM_199051 NP_950252 Q76B58 FAM5C_HUMAN family with sequence similarity 5, member C 501 extracellular region lung(2)|ovary(1)|kidney(1)|skin(1) 5 Prostate(682;0.198) CCGTTTTCTGCAGCAGATATT 0.502 NA 27 96 0 0 0 0 FAM5C 339479 broad.mit.edu 37 1 190067951 190067951 + Missense_Mutation SNP G G T TCGA-HD-7753-01A-11D-2078-08 TCGA-HD-7753-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7dc33525-6f57-4b12-9b72-c9c845296ae3 0ca58135-303a-4e85-896e-7f7c75481e42 g.chr1:190067951G>T uc001gse.1 - 8 1730 c.1498C>A c.(1498-1500)CTG>ATG p.L500M FAM5C_uc010pot.1_Missense_Mutation_p.L398M NM_199051 NP_950252 Q76B58 FAM5C_HUMAN family with sequence similarity 5, member C 500 extracellular region lung(2)|ovary(1)|kidney(1)|skin(1) 5 Prostate(682;0.198) TTCTGCAGCAGATATTTCATC 0.493 NA 27 102 7.42e-09 8.79e-09 1 0 OR2T3 343173 broad.mit.edu 37 1 248637082 248637083 + Missense_Mutation DNP GG GG TT TCGA-HD-7753-01A-11D-2078-08 TCGA-HD-7753-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7dc33525-6f57-4b12-9b72-c9c845296ae3 0ca58135-303a-4e85-896e-7f7c75481e42 g.chr1:248637082_248637083GG>TT uc001iel.1 + 1 431_432 c.431_432GG>TT c.(430-432)AGG>ATT p.R144I NM_001005495 NP_001005495 Q8NH03 OR2T3_HUMAN olfactory receptor, family 2, subfamily T, 144 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(1) 1 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0265) ATGAACCAGAGGGTGTGCCAGC 0.55 NA 6 26 0 0 0 0 SAMD8 142891 broad.mit.edu 37 10 76910800 76910800 + Missense_Mutation SNP A A G TCGA-HD-7753-01A-11D-2078-08 TCGA-HD-7753-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7dc33525-6f57-4b12-9b72-c9c845296ae3 0ca58135-303a-4e85-896e-7f7c75481e42 g.chr10:76910800A>G uc001jwx.1 + 2 617 c.514A>G c.(514-516)ATA>GTA p.I172V SAMD8_uc001jwy.1_Missense_Mutation_p.I172V NM_144660 NP_653261 Q96LT4 SAMD8_HUMAN sterile alpha motif domain containing 8 172 Helical; (Potential). sphingomyelin biosynthetic process integral to membrane 0 all_cancers(46;0.0207)|all_epithelial(25;0.00126)|Prostate(51;0.0112)|Ovarian(15;0.0348) CATTATGGTTATAGTCCATGA 0.368 NA 3 31 0 0 0 0 RAB11FIP2 22841 broad.mit.edu 37 10 119798612 119798612 + Missense_Mutation SNP C C T TCGA-HD-7753-01A-11D-2078-08 TCGA-HD-7753-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7dc33525-6f57-4b12-9b72-c9c845296ae3 0ca58135-303a-4e85-896e-7f7c75481e42 g.chr10:119798612C>T uc001ldj.1 - 3 1576 c.1136G>A c.(1135-1137)GGA>GAA p.G379E RAB11FIP2_uc009xyz.1_Missense_Mutation_p.G379E NM_014904 NP_055719 Q7L804 RFIP2_HUMAN RAB11 family interacting protein 2 379 protein transport plasma membrane|recycling endosome membrane protein homodimerization activity 0 Colorectal(252;0.235) all cancers(201;0.0238) GCTATCAGATCCCCCATTGTT 0.353 NA 10 73 0 0 0 0 FAM53B 9679 broad.mit.edu 37 10 126370453 126370453 + Missense_Mutation SNP G G C TCGA-HD-7753-01A-11D-2078-08 TCGA-HD-7753-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7dc33525-6f57-4b12-9b72-c9c845296ae3 0ca58135-303a-4e85-896e-7f7c75481e42 g.chr10:126370453G>C uc001lhv.1 - 4 1152 c.629C>G c.(628-630)ACC>AGC p.T210S FAM53B_uc001lhu.1_Missense_Mutation_p.T210S|FAM53B_uc001lhw.2_Missense_Mutation_p.T210S NM_014661 NP_055476 Q14153 FA53B_HUMAN hypothetical protein LOC9679 210 ovary(1)|pancreas(1) 2 all_lung(145;0.0191)|Lung NSC(174;0.0301)|Colorectal(57;0.106)|all_neural(114;0.117) COAD - Colon adenocarcinoma(40;0.141)|Colorectal(40;0.15) AGGGCTCCAGGTGTCACCTGC 0.642 NA 2 9 0 0 0 0 FOLH1 2346 broad.mit.edu 37 11 49227672 49227672 + Silent SNP A A G TCGA-HD-7753-01A-11D-2078-08 TCGA-HD-7753-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7dc33525-6f57-4b12-9b72-c9c845296ae3 0ca58135-303a-4e85-896e-7f7c75481e42 g.chr11:49227672A>G uc001ngy.2 - 2 432 c.171T>C c.(169-171)AAT>AAC p.N57N FOLH1_uc001ngz.2_Silent_p.N57N|FOLH1_uc009yly.2_Silent_p.N42N|FOLH1_uc009ylz.2_Silent_p.N42N|FOLH1_uc009yma.2_5'UTR|FOLH1_uc001nha.2_Silent_p.N42N NM_004476 NP_004467 Q04609 FOLH1_HUMAN folate hydrolase 1 isoform 1 57 Extracellular (Probable). proteolysis cytoplasm|integral to plasma membrane|membrane fraction|nucleus carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity large_intestine(1)|ovary(1)|skin(1) 3 Capromab(DB00089)|L-Glutamic Acid(DB00142) ATGCTTTCATATTATGCTTTG 0.323 NA 14 26 0 0 0 0 DAGLA 747 broad.mit.edu 37 11 61511763 61511763 + Silent SNP C C G rs145101853 TCGA-HD-7753-01A-11D-2078-08 TCGA-HD-7753-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7dc33525-6f57-4b12-9b72-c9c845296ae3 0ca58135-303a-4e85-896e-7f7c75481e42 g.chr11:61511763C>G uc001nsa.2 + 20 3042 c.2931C>G c.(2929-2931)GCC>GCG p.A977A NM_006133 NP_006124 Q9Y4D2 DGLA_HUMAN neural stem cell-derived dendrite regulator 977 Cytoplasmic (Potential). cell death|lipid catabolic process|platelet activation integral to membrane|plasma membrane acylglycerol lipase activity|metal ion binding|triglyceride lipase activity ovary(2)|central_nervous_system(1) 3 READ - Rectum adenocarcinoma(4;0.219) GGCTCTTTGCCGGCTCAGCCG 0.677 NA 21 55 0 0 0 0 B3GNT1 11041 broad.mit.edu 37 11 66113556 66113556 + Missense_Mutation SNP C C G TCGA-HD-7753-01A-11D-2078-08 TCGA-HD-7753-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7dc33525-6f57-4b12-9b72-c9c845296ae3 0ca58135-303a-4e85-896e-7f7c75481e42 g.chr11:66113556C>G uc001ohr.2 - 2 1357 c.1212G>C c.(1210-1212)TTG>TTC p.L404F BRMS1_uc001ohp.1_5'Flank|BRMS1_uc001oho.1_5'Flank NM_006876 NP_006867 O43505 B3GN1_HUMAN UDP-GlcNAc:betaGal 404 Lumenal (Potential). poly-N-acetyllactosamine biosynthetic process integral to Golgi membrane N-acetyllactosaminide beta-1,3-N-acetylglucosaminyltransferase activity 0 ACTTGGCCTTCAACTCCTGTT 0.512 NA 24 110 0 0 0 0 FAM55B 120406 broad.mit.edu 37 11 114568901 114568901 + Missense_Mutation SNP G G T TCGA-HD-7753-01A-11D-2078-08 TCGA-HD-7753-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7dc33525-6f57-4b12-9b72-c9c845296ae3 0ca58135-303a-4e85-896e-7f7c75481e42 g.chr11:114568901G>T uc009yyy.2 + 3 365 c.267G>T c.(265-267)GAG>GAT p.E89D NM_182495 NP_872301 Q96DL1 FA55B_HUMAN hypothetical protein LOC120406 89 integral to membrane ovary(1) 1 ACATTATGGAGAAACTAGACC 0.458 NA 15 23 5.35e-07 6.14e-07 1 0 VWA5A 4013 broad.mit.edu 37 11 124007741 124007741 + Missense_Mutation SNP G G T TCGA-HD-7753-01A-11D-2078-08 TCGA-HD-7753-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7dc33525-6f57-4b12-9b72-c9c845296ae3 0ca58135-303a-4e85-896e-7f7c75481e42 g.chr11:124007741G>T uc001pzu.2 + 15 1854 c.1645G>T c.(1645-1647)GCT>TCT p.A549S VWA5A_uc001pzt.2_Missense_Mutation_p.A549S NM_001130142 NP_001123614 O00534 VMA5A_HUMAN BCSC-1 isoform 1 549 upper_aerodigestive_tract(1)|ovary(1) 2 TCACCGCCTTGCTGCCAAGTC 0.453 NA 23 30 2.45e-14 3.02e-14 1 0 CD163 9332 broad.mit.edu 37 12 7639150 7639150 + Silent SNP G G A TCGA-HD-7753-01A-11D-2078-08 TCGA-HD-7753-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7dc33525-6f57-4b12-9b72-c9c845296ae3 0ca58135-303a-4e85-896e-7f7c75481e42 g.chr12:7639150G>A uc001qsz.3 - 10 2531 c.2403C>T c.(2401-2403)CAC>CAT p.H801H CD163_uc001qta.3_Silent_p.H801H|CD163_uc009zfw.2_Silent_p.H834H NM_004244 NP_004235 Q86VB7 C163A_HUMAN CD163 antigen isoform a 801 SRCR 7.|Extracellular (Potential). acute-phase response extracellular region|integral to plasma membrane protein binding|scavenger receptor activity ovary(6)|pancreas(1)|skin(1) 8 GCCCCCAGCCGTGTGAATGGC 0.483 NA 46 114 0 0 0 0 TMEM117 84216 broad.mit.edu 37 12 44605082 44605082 + Missense_Mutation SNP A A G TCGA-HD-7753-01A-11D-2078-08 TCGA-HD-7753-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7dc33525-6f57-4b12-9b72-c9c845296ae3 0ca58135-303a-4e85-896e-7f7c75481e42 g.chr12:44605082A>G uc001rod.2 + 5 586 c.520A>G c.(520-522)ATG>GTG p.M174V TMEM117_uc001roe.2_Missense_Mutation_p.M70V|TMEM117_uc009zkc.2_Missense_Mutation_p.M174V NM_032256 NP_115632 Q9H0C3 TM117_HUMAN transmembrane protein 117 174 Helical; (Potential). endoplasmic reticulum|integral to membrane 0 Lung SC(27;0.192) GBM - Glioblastoma multiforme(48;0.124) GGTCACTGATATGATGCTTCA 0.353 NA 14 49 0 0 0 0 ERBB3 2065 broad.mit.edu 37 12 56481413 56481413 + Missense_Mutation SNP A A T TCGA-HD-7753-01A-11D-2078-08 TCGA-HD-7753-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7dc33525-6f57-4b12-9b72-c9c845296ae3 0ca58135-303a-4e85-896e-7f7c75481e42 g.chr12:56481413A>T uc001sjh.2 + 5 793 c.600A>T c.(598-600)GAA>GAT p.E200D ERBB3_uc009zoj.2_RNA|ERBB3_uc010sqb.1_Intron|ERBB3_uc010sqc.1_Missense_Mutation_p.E141D|ERBB3_uc001sji.2_5'Flank NM_001982 NP_001973 P21860 ERBB3_HUMAN erbB-3 isoform 1 precursor 200 Extracellular (Potential). cranial nerve development|heart development|negative regulation of cell adhesion|negative regulation of neuron apoptosis|negative regulation of secretion|negative regulation of signal transduction|neuron apoptosis|phosphatidylinositol 3-kinase cascade|positive regulation of phosphatidylinositol 3-kinase cascade|regulation of cell proliferation|Schwann cell differentiation|transmembrane receptor protein tyrosine kinase signaling pathway|wound healing basolateral plasma membrane|extracellular space|integral to plasma membrane|receptor complex ATP binding|growth factor binding|protein heterodimerization activity|protein homodimerization activity|protein tyrosine kinase activator activity|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity lung(3)|central_nervous_system(2)|stomach(1)|ovary(1)|skin(1) 8 OV - Ovarian serous cystadenocarcinoma(18;0.112) CTGGATCAGAAGACTGCCAGA 0.552 NA 20 42 0 0 0 0 MED13L 23389 broad.mit.edu 37 12 116421091 116421091 + Missense_Mutation SNP T T C TCGA-HD-7753-01A-11D-2078-08 TCGA-HD-7753-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7dc33525-6f57-4b12-9b72-c9c845296ae3 0ca58135-303a-4e85-896e-7f7c75481e42 g.chr12:116421091T>C uc001tvw.2 - 21 4841 c.4786A>G c.(4786-4788)ATT>GTT p.I1596V NM_015335 NP_056150 Q71F56 MD13L_HUMAN mediator complex subunit 13-like 1596 Ser-rich. regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent skin(4)|ovary(2)|upper_aerodigestive_tract(1)|lung(1) 8 all_neural(191;0.117)|Medulloblastoma(191;0.163) BRCA - Breast invasive adenocarcinoma(302;0.0407) ATCTGGCTAATACCAGGAGCA 0.512 NA 22 37 0 0 0 0 GCN1L1 10985 broad.mit.edu 37 12 120584869 120584869 + Missense_Mutation SNP A A C TCGA-HD-7753-01A-11D-2078-08 TCGA-HD-7753-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7dc33525-6f57-4b12-9b72-c9c845296ae3 0ca58135-303a-4e85-896e-7f7c75481e42 g.chr12:120584869A>C uc001txo.2 - 38 4947 c.4934T>G c.(4933-4935)CTG>CGG p.L1645R NM_006836 NP_006827 Q92616 GCN1L_HUMAN GCN1 general control of amino-acid synthesis 1645 HEAT 11. regulation of translation ribosome protein binding|translation factor activity, nucleic acid binding ovary(4) 4 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) CTGGTCTGTCAGGGAGTACAT 0.557 NA 9 15 0 0 0 0 KNTC1 9735 broad.mit.edu 37 12 123095404 123095404 + Missense_Mutation SNP A A G TCGA-HD-7753-01A-11D-2078-08 TCGA-HD-7753-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7dc33525-6f57-4b12-9b72-c9c845296ae3 0ca58135-303a-4e85-896e-7f7c75481e42 g.chr12:123095404A>G uc001ucv.2 + 53 5742 c.5579A>G c.(5578-5580)TAT>TGT p.Y1860C KNTC1_uc010taf.1_Missense_Mutation_p.Y785C NM_014708 NP_055523 P50748 KNTC1_HUMAN Rough Deal homolog, centromere/kinetochore 1860 cell division|mitotic cell cycle checkpoint|mitotic prometaphase|protein complex assembly|regulation of exit from mitosis condensed chromosome kinetochore|cytosol|kinetochore microtubule|nucleus|spindle pole protein binding ovary(5)|kidney(3)|lung(1)|central_nervous_system(1) 10 all_neural(191;0.0837)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;7.21e-05)|Epithelial(86;0.000178)|BRCA - Breast invasive adenocarcinoma(302;0.217) CCAATTGATTATAGTTCAAGA 0.328 NA 12 24 0 0 0 0 MTUS2 23281 broad.mit.edu 37 13 29600957 29600957 + Missense_Mutation SNP G G A TCGA-HD-7753-01A-11D-2078-08 TCGA-HD-7753-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7dc33525-6f57-4b12-9b72-c9c845296ae3 0ca58135-303a-4e85-896e-7f7c75481e42 g.chr13:29600957G>A uc001usl.3 + 1 2210 c.2152G>A c.(2152-2154)GTC>ATC p.V718I NM_001033602 NP_001028774 Q5JR59 MTUS2_HUMAN hypothetical protein LOC23281 isoform a 708 Mediates interaction with MAPRE1. cytoplasm|microtubule microtubule binding|protein homodimerization activity 0 GAAGCCAAGGGTCTTCAGTTC 0.493 NA 14 29 0 0 0 0 SPG20 23111 broad.mit.edu 37 13 36909740 36909740 + Missense_Mutation SNP C C A TCGA-HD-7753-01A-11D-2078-08 TCGA-HD-7753-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7dc33525-6f57-4b12-9b72-c9c845296ae3 0ca58135-303a-4e85-896e-7f7c75481e42 g.chr13:36909740C>A uc001uvn.2 - 3 498 c.228G>T c.(226-228)CAG>CAT p.Q76H SPG20_uc010ten.1_Missense_Mutation_p.Q76H|SPG20_uc001uvm.2_Missense_Mutation_p.Q76H|SPG20_uc001uvo.2_Missense_Mutation_p.Q76H|SPG20_uc001uvq.2_Missense_Mutation_p.Q76H|SPG20_uc001uvp.2_Missense_Mutation_p.Q76H NM_001142296 NP_001135768 Q8N0X7 SPG20_HUMAN spartin 76 MIT. cell death cytoplasm ubiquitin protein ligase binding 0 Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174) KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169) all cancers(112;2.42e-08)|Epithelial(112;1.58e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00128)|BRCA - Breast invasive adenocarcinoma(63;0.0125)|GBM - Glioblastoma multiforme(144;0.026) TCTGTTGCATCTGTCTAGCAG 0.453 NA 26 27 9.58e-11 1.16e-10 1 0 PCDH8 5100 broad.mit.edu 37 13 53421763 53421763 + Missense_Mutation SNP G G C TCGA-HD-7753-01A-11D-2078-08 TCGA-HD-7753-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7dc33525-6f57-4b12-9b72-c9c845296ae3 0ca58135-303a-4e85-896e-7f7c75481e42 g.chr13:53421763G>C uc001vhi.2 - 1 1012 c.809C>G c.(808-810)GCA>GGA p.A270G PCDH8_uc001vhj.2_Missense_Mutation_p.A270G NM_002590 NP_002581 O95206 PCDH8_HUMAN protocadherin 8 isoform 1 precursor 270 Extracellular (Potential).|Cadherin 3. cell-cell signaling|homophilic cell adhesion cell junction|dendrite|integral to plasma membrane|postsynaptic membrane|presynaptic membrane calcium ion binding breast(1) 1 Lung NSC(96;0.0019)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173) GBM - Glioblastoma multiforme(99;2.19e-08) GGGGTCGGCTGCGTCCAGGTC 0.711 NA 2 1 0 0 0 0 SLITRK5 26050 broad.mit.edu 37 13 88328847 88328847 + Missense_Mutation SNP G G T TCGA-HD-7753-01A-11D-2078-08 TCGA-HD-7753-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7dc33525-6f57-4b12-9b72-c9c845296ae3 0ca58135-303a-4e85-896e-7f7c75481e42 g.chr13:88328847G>T uc001vln.2 + 2 1423 c.1204G>T c.(1204-1206)GCT>TCT p.A402S SLITRK5_uc010tic.1_Missense_Mutation_p.A161S NM_015567 NP_056382 O94991 SLIK5_HUMAN SLIT and NTRK-like family, member 5 precursor 402 Extracellular (Potential).|LRRNT. integral to membrane ovary(2)|pancreas(2)|central_nervous_system(1) 5 all_neural(89;0.101)|Medulloblastoma(90;0.163) CGAGAGCATCGCTGAACTGCA 0.567 NA 17 19 2.35e-11 2.86e-11 1 0 COQ6 51004 broad.mit.edu 37 14 74428218 74428218 + Missense_Mutation SNP T T A TCGA-HD-7753-01A-11D-2078-08 TCGA-HD-7753-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7dc33525-6f57-4b12-9b72-c9c845296ae3 0ca58135-303a-4e85-896e-7f7c75481e42 g.chr14:74428218T>A uc001xph.2 + 10 1235 c.1155T>A c.(1153-1155)GAT>GAA p.D385E ENTPD5_uc001xpi.2_Intron|COQ6_uc001xpe.2_Missense_Mutation_p.D310E|COQ6_uc001xpf.2_Missense_Mutation_p.D310E|COQ6_uc010tuk.1_Missense_Mutation_p.D360E|COQ6_uc001xpg.2_Missense_Mutation_p.D385E NM_182476 NP_872282 Q9Y2Z9 COQ6_HUMAN coenzyme Q6 homolog isoform a 385 ubiquinone biosynthetic process mitochondrion flavin adenine dinucleotide binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NADH or NADPH as one donor, and incorporation of one atom of oxygen 0 BRCA - Breast invasive adenocarcinoma(234;0.00337) GCTTTGGGGATATCTCCAGCT 0.512 NA 10 27 0 0 0 0 TRPM7 54822 broad.mit.edu 37 15 50935734 50935734 + Missense_Mutation SNP T T C TCGA-HD-7753-01A-11D-2078-08 TCGA-HD-7753-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7dc33525-6f57-4b12-9b72-c9c845296ae3 0ca58135-303a-4e85-896e-7f7c75481e42 g.chr15:50935734T>C uc001zyt.3 - 5 602 c.338A>G c.(337-339)TAT>TGT p.Y113C TRPM7_uc010bew.1_Missense_Mutation_p.Y113C NM_017672 NP_060142 Q96QT4 TRPM7_HUMAN transient receptor potential cation channel, 113 Cytoplasmic (Potential). cell death integral to membrane ATP binding|calcium channel activity|metal ion binding|protein serine/threonine kinase activity ovary(4)|stomach(3)|breast(1)|central_nervous_system(1)|skin(1) 10 all cancers(107;0.000819)|GBM - Glioblastoma multiforme(94;0.0045) TTTGGTGTCATATGATAGCCT 0.338 NA 16 40 0 0 0 0 IQCH 64799 broad.mit.edu 37 15 67786666 67786666 + Missense_Mutation SNP A A G TCGA-HD-7753-01A-11D-2078-08 TCGA-HD-7753-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7dc33525-6f57-4b12-9b72-c9c845296ae3 0ca58135-303a-4e85-896e-7f7c75481e42 g.chr15:67786666A>G uc002aqo.1 + 20 2979 c.2932A>G c.(2932-2934)ATA>GTA p.I978V IQCH_uc002aqq.1_Missense_Mutation_p.I635V|IQCH_uc002aqp.1_Missense_Mutation_p.N618S|uc002aqr.1_Intron NM_001031715 NP_001026885 Q86VS3 IQCH_HUMAN IQ motif containing H isoform 1 978 skin(3)|ovary(1) 4 Colorectal(3;0.0856) CCATCAAGAAATATCAGCACC 0.398 NA 5 21 0 0 0 0 MESDC2 23184 broad.mit.edu 37 15 81282115 81282115 + Nonsense_Mutation SNP C C T TCGA-HD-7753-01A-11D-2078-08 TCGA-HD-7753-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7dc33525-6f57-4b12-9b72-c9c845296ae3 0ca58135-303a-4e85-896e-7f7c75481e42 g.chr15:81282115C>T uc002bfy.1 - 1 91 c.18G>A c.(16-18)TGG>TGA p.W6* MESDC2_uc002bfx.2_RNA|MESDC2_uc010uno.1_RNA NM_015154 NP_055969 Q14696 MESD_HUMAN mesoderm development candidate 2 6 Chaperone domain (By similarity). mesoderm development|protein folding|Wnt receptor signaling pathway endoplasmic reticulum 0 CCTTGCGCGCCCACCTGGAAG 0.642 NA 8 11 0 0 0 0 SLCO3A1 28232 broad.mit.edu 37 15 92671678 92671678 + Missense_Mutation SNP A A T TCGA-HD-7753-01A-11D-2078-08 TCGA-HD-7753-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7dc33525-6f57-4b12-9b72-c9c845296ae3 0ca58135-303a-4e85-896e-7f7c75481e42 g.chr15:92671678A>T uc002bqx.2 + 7 1672 c.1471A>T c.(1471-1473)ATC>TTC p.I491F SLCO3A1_uc002bqy.2_Missense_Mutation_p.I491F|SLCO3A1_uc010boc.1_RNA|SLCO3A1_uc002bqz.1_Missense_Mutation_p.I433F NM_013272 NP_037404 Q9UIG8 SO3A1_HUMAN solute carrier organic anion transporter family, 491 Extracellular (Potential).|Kazal-like. sodium-independent organic anion transport integral to membrane|plasma membrane sodium-independent organic anion transmembrane transporter activity skin(1) 1 Lung NSC(78;0.0158)|all_lung(78;0.0255) BRCA - Breast invasive adenocarcinoma(143;0.0841) GGCAGATGGCATCACCTACCT 0.463 NA 19 45 0 0 0 0 ST8SIA2 8128 broad.mit.edu 37 15 93007600 93007600 + Silent SNP C C T rs113311093 TCGA-HD-7753-01A-11D-2078-08 TCGA-HD-7753-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7dc33525-6f57-4b12-9b72-c9c845296ae3 0ca58135-303a-4e85-896e-7f7c75481e42 g.chr15:93007600C>T uc002bra.2 + 6 1268 c.1113C>T c.(1111-1113)TGC>TGT p.C371C ST8SIA2_uc002brb.2_Silent_p.C350C NM_006011 NP_006002 Q92186 SIA8B_HUMAN ST8 alpha-N-acetyl-neuraminide 371 Lumenal (Potential). axon guidance|N-glycan processing|oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine integral to Golgi membrane alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity 0 Lung NSC(78;0.0893)|all_lung(78;0.125) BRCA - Breast invasive adenocarcinoma(143;0.0355)|OV - Ovarian serous cystadenocarcinoma(32;0.203) TCGGCCAGTGCGATGGGGCCA 0.597 NA 27 57 0 0 0 0 DNAH3 55567 broad.mit.edu 37 16 21078616 21078616 + Missense_Mutation SNP A A G TCGA-HD-7753-01A-11D-2078-08 TCGA-HD-7753-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7dc33525-6f57-4b12-9b72-c9c845296ae3 0ca58135-303a-4e85-896e-7f7c75481e42 g.chr16:21078616A>G uc010vbe.1 - 24 3506 c.3506T>C c.(3505-3507)CTA>CCA p.L1169P NM_017539 NP_060009 Q8TD57 DYH3_HUMAN dynein, axonemal, heavy chain 3 1169 Stem (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity ovary(10)|skin(3)|large_intestine(2)|central_nervous_system(2)|upper_aerodigestive_tract(1) 18 GBM - Glioblastoma multiforme(48;0.207) GGGGAAGAATAGTCTCTTCTT 0.438 NA 21 13 0 0 0 0 CHD9 80205 broad.mit.edu 37 16 53358379 53358379 + Missense_Mutation SNP A A G TCGA-HD-7753-01A-11D-2078-08 TCGA-HD-7753-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7dc33525-6f57-4b12-9b72-c9c845296ae3 0ca58135-303a-4e85-896e-7f7c75481e42 g.chr16:53358379A>G uc002ehb.2 + 38 8430 c.8266A>G c.(8266-8268)AGG>GGG p.R2756G CHD9_uc002egy.2_Missense_Mutation_p.R2740G|CHD9_uc002ehc.2_Missense_Mutation_p.R2741G|CHD9_uc002ehf.2_Missense_Mutation_p.R1854G|CHD9_uc010cbw.2_Missense_Mutation_p.R822G NM_025134 NP_079410 Q3L8U1 CHD9_HUMAN chromodomain helicase DNA binding protein 9 2756 cellular lipid metabolic process|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleoplasm ATP binding|DNA binding|helicase activity|protein binding lung(2)|central_nervous_system(1)|breast(1)|skin(1)|ovary(1)|kidney(1) 7 all_cancers(37;0.0212) AAAAACAGAAAGGACAGAGAG 0.463 NA 19 24 0 0 0 0 ZZEF1 23140 broad.mit.edu 37 17 3921231 3921231 + Missense_Mutation SNP T T A TCGA-HD-7753-01A-11D-2078-08 TCGA-HD-7753-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7dc33525-6f57-4b12-9b72-c9c845296ae3 0ca58135-303a-4e85-896e-7f7c75481e42 g.chr17:3921231T>A uc002fxe.2 - 47 7604 c.7540A>T c.(7540-7542)ATA>TTA p.I2514L ZZEF1_uc002fxg.1_5'Flank NM_015113 NP_055928 O43149 ZZEF1_HUMAN zinc finger, ZZ type with EF hand domain 1 2514 calcium ion binding|zinc ion binding ovary(2)|central_nervous_system(1)|pancreas(1) 4 AGGGACCGTATCCTTTCATCT 0.507 NA 9 38 0 0 0 0 USP6 9098 broad.mit.edu 37 17 5042664 5042664 + Missense_Mutation SNP G G A TCGA-HD-7753-01A-11D-2078-08 TCGA-HD-7753-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7dc33525-6f57-4b12-9b72-c9c845296ae3 0ca58135-303a-4e85-896e-7f7c75481e42 g.chr17:5042664G>A uc002gau.1 + 22 3423 c.1193G>A c.(1192-1194)CGG>CAG p.R398Q USP6_uc002gav.1_Missense_Mutation_p.R398Q|USP6_uc010ckz.1_Missense_Mutation_p.R81Q|uc002gbd.2_5'Flank NM_004505 NP_004496 P35125 UBP6_HUMAN ubiquitin specific protease 6 398 protein deubiquitination|regulation of vesicle-mediated transport|ubiquitin-dependent protein catabolic process lysosome|plasma membrane|recycling endosome calmodulin binding|cysteine-type endopeptidase activity|nucleic acid binding|protein binding|Rab GTPase activator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity skin(2)|upper_aerodigestive_tract(1)|lung(1)|breast(1) 5 CAGTTCCAGCGGCCCATTTGC 0.657 NA T COL1A1|CDH11|ZNF9|OMD aneurysmal bone cysts 7 24 0 0 0 0 ZNF286A 57335 broad.mit.edu 37 17 15620349 15620349 + Silent SNP C C T TCGA-HD-7753-01A-11D-2078-08 TCGA-HD-7753-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7dc33525-6f57-4b12-9b72-c9c845296ae3 0ca58135-303a-4e85-896e-7f7c75481e42 g.chr17:15620349C>T uc010cot.2 + 6 1707 c.1311C>T c.(1309-1311)CCC>CCT p.P437P ZNF286A_uc002goz.3_Silent_p.P325P|ZNF286A_uc010vwa.1_Silent_p.P437P|ZNF286A_uc002gpa.2_Silent_p.P437P NM_001130842 NP_001124314 Q9HBT8 Z286A_HUMAN zinc finger protein 286 437 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(1) 1 UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)|READ - Rectum adenocarcinoma(1115;0.0222)|BRCA - Breast invasive adenocarcinoma(8;0.0781) GAGAGAAACCCTATGAGTGTA 0.388 NA 14 23 0 0 0 0 GPR179 440435 broad.mit.edu 37 17 36485312 36485312 + Silent SNP C C A TCGA-HD-7753-01A-11D-2078-08 TCGA-HD-7753-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7dc33525-6f57-4b12-9b72-c9c845296ae3 0ca58135-303a-4e85-896e-7f7c75481e42 g.chr17:36485312C>A uc002hpz.2 - 11 4161 c.4140G>T c.(4138-4140)CCG>CCT p.P1380P NM_001004334 NP_001004334 Q6PRD1 GP179_HUMAN GPR158-like 1 precursor 1380 Cytoplasmic (Potential). integral to membrane|plasma membrane G-protein coupled receptor activity ovary(3) 3 Breast(7;2.97e-12) Breast(25;0.0101)|Ovarian(249;0.15) CCCAGGGACACGGCTCTGCCT 0.597 NA 42 73 2.36e-20 2.95e-20 1 0 MED1 5469 broad.mit.edu 37 17 37564173 37564173 + Missense_Mutation SNP G G A TCGA-HD-7753-01A-11D-2078-08 TCGA-HD-7753-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7dc33525-6f57-4b12-9b72-c9c845296ae3 0ca58135-303a-4e85-896e-7f7c75481e42 g.chr17:37564173G>A uc002hrv.3 - 17 4513 c.4301C>T c.(4300-4302)CCA>CTA p.P1434L MED1_uc010wee.1_Missense_Mutation_p.P1262L|MED1_uc002hru.2_Intron NM_004774 NP_004765 Q15648 MED1_HUMAN mediator complex subunit 1 1434 Ser-rich. androgen biosynthetic process|androgen receptor signaling pathway|cellular lipid metabolic process|fat cell differentiation|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription initiation from RNA polymerase II promoter mediator complex DNA binding|estrogen receptor binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|peroxisome proliferator activated receptor binding|receptor activity|retinoic acid receptor binding|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding lung(2)|ovary(2)|breast(1)|skin(1)|kidney(1)|pancreas(1) 8 Ovarian(249;1.78e-06)|Lung SC(565;0.0262) Lung(15;0.0178)|LUAD - Lung adenocarcinoma(14;0.146) UCEC - Uterine corpus endometrioid carcinoma (308;6.64e-05)|BRCA - Breast invasive adenocarcinoma(366;0.00136)|READ - Rectum adenocarcinoma(1115;0.0649) ACTGATGAGTGGAGAGCCATA 0.488 NA HNSCC(31;0.082) 19 41 0 0 0 0 CCR7 1236 broad.mit.edu 37 17 38711204 38711204 + Silent SNP G G A TCGA-HD-7753-01A-11D-2078-08 TCGA-HD-7753-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7dc33525-6f57-4b12-9b72-c9c845296ae3 0ca58135-303a-4e85-896e-7f7c75481e42 g.chr17:38711204G>A uc002huw.2 - 3 990 c.927C>T c.(925-927)GAC>GAT p.D309D NM_001838 NP_001829 P32248 CCR7_HUMAN chemokine (C-C motif) receptor 7 precursor 309 Extracellular (Potential). cell maturation|immunological synapse formation|inflammatory response|interleukin-12 secretion|lymphocyte migration into lymph node|positive regulation of dendritic cell antigen processing and presentation|positive regulation of glycoprotein biosynthetic process|positive regulation of humoral immune response|positive regulation of hypersensitivity|positive regulation of interleukin-12 production|positive regulation of neutrophil chemotaxis|regulation of interferon-gamma production|regulation of interleukin-1 beta secretion|T cell costimulation integral to membrane|intracellular C-C chemokine receptor activity|chemokine (C-C motif) ligand 19 binding|chemokine (C-C motif) ligand 21 binding breast(1) 1 Breast(137;0.000496) TGTAGGTGACGTCGTAGGCGA 0.567 NA 9 38 0 0 0 0 TANC2 26115 broad.mit.edu 37 17 61432352 61432352 + Missense_Mutation SNP A A G TCGA-HD-7753-01A-11D-2078-08 TCGA-HD-7753-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7dc33525-6f57-4b12-9b72-c9c845296ae3 0ca58135-303a-4e85-896e-7f7c75481e42 g.chr17:61432352A>G uc002jal.3 + 12 1984 c.1961A>G c.(1960-1962)TAT>TGT p.Y654C TANC2_uc010wpe.1_Missense_Mutation_p.Y564C|TANC2_uc002jam.1_Missense_Mutation_p.Y21C NM_025185 NP_079461 Q9HCD6 TANC2_HUMAN tetratricopeptide repeat, ankyrin repeat and 654 binding ovary(2) 2 CAAGGGTCCTATCTATATCTG 0.388 NA 38 84 0 0 0 0 ZNF521 25925 broad.mit.edu 37 18 22807417 22807417 + Missense_Mutation SNP G G C TCGA-HD-7753-01A-11D-2078-08 TCGA-HD-7753-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7dc33525-6f57-4b12-9b72-c9c845296ae3 0ca58135-303a-4e85-896e-7f7c75481e42 g.chr18:22807417G>C uc002kvk.2 - 4 712 c.465C>G c.(463-465)TTC>TTG p.F155L ZNF521_uc010xbe.1_RNA|ZNF521_uc010dly.2_Missense_Mutation_p.F155L|ZNF521_uc002kvl.2_5'UTR NM_015461 NP_056276 Q96K83 ZN521_HUMAN zinc finger protein 521 155 C2H2-type 3. cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein domain specific binding|zinc ion binding ovary(4)|large_intestine(2)|lung(1) 7 all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991) GCTTGTGTTTGAACAGCCTAC 0.498 NA T PAX5 ALL 14 64 0 0 0 0 RIT2 6014 broad.mit.edu 37 18 40695399 40695399 + Missense_Mutation SNP C C T TCGA-HD-7753-01A-11D-2078-08 TCGA-HD-7753-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7dc33525-6f57-4b12-9b72-c9c845296ae3 0ca58135-303a-4e85-896e-7f7c75481e42 g.chr18:40695399C>T uc002lav.2 - 1 259 c.86G>A c.(85-87)GGG>GAG p.G29E RIT2_uc010dnf.2_Missense_Mutation_p.G29E NM_002930 NP_002921 Q99578 RIT2_HUMAN Ras-like without CAAX 2 29 GTP (By similarity). nerve growth factor receptor signaling pathway|small GTPase mediated signal transduction|synaptic transmission intracellular|plasma membrane calmodulin binding|GTP binding|GTPase activity ovary(1) 1 ACCAACTCCCCCTGCTCCCAG 0.512 NA 20 189 0 0 0 0 SYT4 6860 broad.mit.edu 37 18 40850388 40850388 + Missense_Mutation SNP C C G TCGA-HD-7753-01A-11D-2078-08 TCGA-HD-7753-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7dc33525-6f57-4b12-9b72-c9c845296ae3 0ca58135-303a-4e85-896e-7f7c75481e42 g.chr18:40850388C>G uc002law.2 - 4 1565 c.1196G>C c.(1195-1197)GGA>GCA p.G399A SYT4_uc010dng.2_RNA|SYT4_uc010xcm.1_Missense_Mutation_p.G381A|SYT4_uc010dnh.2_RNA NM_020783 NP_065834 Q9H2B2 SYT4_HUMAN synaptotagmin IV 399 Cytoplasmic (Potential). cell junction|integral to membrane|synaptic vesicle membrane transporter activity skin(5) 5 TCCACCAGTTCCTTCTGCTGC 0.493 NA 34 208 0 0 0 0 DCC 1630 broad.mit.edu 37 18 50432611 50432611 + Missense_Mutation SNP C C A TCGA-HD-7753-01A-11D-2078-08 TCGA-HD-7753-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7dc33525-6f57-4b12-9b72-c9c845296ae3 0ca58135-303a-4e85-896e-7f7c75481e42 g.chr18:50432611C>A uc002lfe.1 + 3 1197 c.610C>A c.(610-612)CCG>ACG p.P204T DCC_uc010xdr.1_Missense_Mutation_p.P52T NM_005215 NP_005206 P43146 DCC_HUMAN netrin receptor DCC precursor 204 Extracellular (Potential).|Ig-like C2-type 2. apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development cytosol|integral to membrane skin(8)|ovary(6)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1) 17 all_cancers(7;0.11)|all_epithelial(6;0.00126) Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942) CCGACTCCAACCGGGGGACAT 0.502 NA 7 24 0.000442599 0.000490081 1 0 ZADH2 284273 broad.mit.edu 37 18 72914167 72914167 + Missense_Mutation SNP G G T TCGA-HD-7753-01A-11D-2078-08 TCGA-HD-7753-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7dc33525-6f57-4b12-9b72-c9c845296ae3 0ca58135-303a-4e85-896e-7f7c75481e42 g.chr18:72914167G>T uc002llx.2 - 2 606 c.338C>A c.(337-339)GCC>GAC p.A113D ZADH2_uc010dqv.2_5'UTR NM_175907 NP_787103 Q8N4Q0 ZADH2_HUMAN zinc binding alcohol dehydrogenase domain 113 peroxisome oxidoreductase activity|zinc ion binding 0 Esophageal squamous(42;0.131)|Prostate(75;0.155) READ - Rectum adenocarcinoma(2;0.0276)|BRCA - Breast invasive adenocarcinoma(31;0.216) TGTGTATCTGGCACTAGCAGA 0.542 NA 15 48 3.27e-08 3.85e-08 1 0 ZNF99 7652 broad.mit.edu 37 19 22941472 22941472 + Silent SNP A A G TCGA-HD-7753-01A-11D-2078-08 TCGA-HD-7753-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7dc33525-6f57-4b12-9b72-c9c845296ae3 0ca58135-303a-4e85-896e-7f7c75481e42 g.chr19:22941472A>G uc010xrh.1 - 5 966 c.966T>C c.(964-966)ACT>ACC p.T322T NM_001080409 NP_001073878 zinc finger protein 99 ovary(1)|skin(1) 2 Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102) CCTTATGTACAGTAAGTTTTG 0.363 NA 15 25 0 0 0 0 ZNF383 163087 broad.mit.edu 37 19 37733572 37733572 + Missense_Mutation SNP C C T TCGA-HD-7753-01A-11D-2078-08 TCGA-HD-7753-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7dc33525-6f57-4b12-9b72-c9c845296ae3 0ca58135-303a-4e85-896e-7f7c75481e42 g.chr19:37733572C>T uc002oft.1 + 8 1014 c.434C>T c.(433-435)CCT>CTT p.P145L ZNF383_uc002ofs.1_Missense_Mutation_p.P80L|ZNF383_uc002ofu.1_Missense_Mutation_p.P145L NM_152604 NP_689817 Q8NA42 ZN383_HUMAN zinc finger protein 383 145 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|zinc ion binding ovary(1)|skin(1) 2 COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) ATATTCACTCCTGAATACATG 0.368 NA 30 54 0 0 0 0 RASGRP4 115727 broad.mit.edu 37 19 38903847 38903847 + Missense_Mutation SNP C C T TCGA-HD-7753-01A-11D-2078-08 TCGA-HD-7753-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7dc33525-6f57-4b12-9b72-c9c845296ae3 0ca58135-303a-4e85-896e-7f7c75481e42 g.chr19:38903847C>T uc002oir.2 - 11 1616 c.1402G>A c.(1402-1404)GAG>AAG p.E468K RASGRP4_uc010efz.1_RNA|RASGRP4_uc010ega.1_RNA|RASGRP4_uc010xua.1_Missense_Mutation_p.E399K|RASGRP4_uc010xub.1_Missense_Mutation_p.E434K|RASGRP4_uc010xuc.1_Missense_Mutation_p.E376K|RASGRP4_uc010xud.1_Missense_Mutation_p.E371K|RASGRP4_uc010xue.1_Missense_Mutation_p.E279K|RASGRP4_uc010egb.2_Missense_Mutation_p.E454K NM_170604 NP_733749 Q8TDF6 GRP4_HUMAN RAS guanyl releasing protein 4 isoform a 468 EF-hand. activation of phospholipase C activity|cell growth|cell proliferation|myeloid cell differentiation|positive regulation of Ras protein signal transduction|regulation of G-protein coupled receptor protein signaling pathway|response to extracellular stimulus|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine kinase signaling pathway cytoplasm|membrane fraction|plasma membrane|soluble fraction diacylglycerol binding|GTP-dependent protein binding|metal ion binding|Ras guanyl-nucleotide exchange factor activity pancreas(1)|lung(1)|skin(1) 3 all_cancers(60;4.21e-06) Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272) ACCAGCTGCTCCACATGCCGA 0.667 NA 7 13 0 0 0 0 FCGBP 8857 broad.mit.edu 37 19 40367841 40367841 + Silent SNP T T G TCGA-HD-7753-01A-11D-2078-08 TCGA-HD-7753-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7dc33525-6f57-4b12-9b72-c9c845296ae3 0ca58135-303a-4e85-896e-7f7c75481e42 g.chr19:40367841T>G uc002omp.3 - 29 13127 c.13119A>C c.(13117-13119)GCA>GCC p.A4373A NM_003890 NP_003881 Q9Y6R7 FCGBP_HUMAN Fc fragment of IgG binding protein precursor 4373 TIL 10. extracellular region protein binding ovary(4)|skin(4)|central_nervous_system(1) 9 all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06) Epithelial(26;6.25e-23)|all cancers(26;1.13e-20) TCGTAAGGGGTGCAGGGGACG 0.627 NA 7 16 0 0 0 0 ZNF404 342908 broad.mit.edu 37 19 44377455 44377455 + Missense_Mutation SNP C C T TCGA-HD-7753-01A-11D-2078-08 TCGA-HD-7753-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7dc33525-6f57-4b12-9b72-c9c845296ae3 0ca58135-303a-4e85-896e-7f7c75481e42 g.chr19:44377455C>T uc002oxs.3 - 2 911 c.902G>A c.(901-903)TGT>TAT p.C301Y NM_001033719 NP_001028891 Q494X3 ZN404_HUMAN zinc finger protein 404 304 C2H2-type 7. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 Prostate(69;0.0352) GGCCTTTTCACATTGTTCACA 0.368 NA 5 21 0 0 0 0 ZC3H4 23211 broad.mit.edu 37 19 47584838 47584838 + Missense_Mutation SNP T T C TCGA-HD-7753-01A-11D-2078-08 TCGA-HD-7753-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7dc33525-6f57-4b12-9b72-c9c845296ae3 0ca58135-303a-4e85-896e-7f7c75481e42 g.chr19:47584838T>C uc002pga.3 - 11 1410 c.1372A>G c.(1372-1374)ATC>GTC p.I458V ZC3H4_uc002pgb.1_Intron NM_015168 NP_055983 Q9UPT8 ZC3H4_HUMAN zinc finger CCCH-type containing 4 458 C3H1-type 3. nucleic acid binding|zinc ion binding skin(4)|ovary(2) 6 all_cancers(25;3.3e-08)|all_epithelial(76;2.28e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.0889) OV - Ovarian serous cystadenocarcinoma(262;5.76e-05)|all cancers(93;7.69e-05)|Epithelial(262;0.00354)|GBM - Glioblastoma multiforme(486;0.0372) TCACCATTGATGCAGTTCCCA 0.547 NA 16 26 0 0 0 0 MED25 81857 broad.mit.edu 37 19 50334077 50334077 + Missense_Mutation SNP G G T TCGA-HD-7753-01A-11D-2078-08 TCGA-HD-7753-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7dc33525-6f57-4b12-9b72-c9c845296ae3 0ca58135-303a-4e85-896e-7f7c75481e42 g.chr19:50334077G>T uc002ppw.1 + 9 1087 c.1034G>T c.(1033-1035)AGT>ATT p.S345I MED25_uc010ybe.1_Missense_Mutation_p.S132I|MED25_uc002ppx.1_Missense_Mutation_p.S126I NM_030973 NP_112235 Q71SY5 MED25_HUMAN mediator complex subunit 25 345 Pro-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleoplasm ovary(1) 1 all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728) OV - Ovarian serous cystadenocarcinoma(262;0.00822)|GBM - Glioblastoma multiforme(134;0.0122) TCCCAGCCCAGTCTGGTCTCC 0.726 NA 21 28 7.42e-09 8.79e-09 1 0 ZNF611 81856 broad.mit.edu 37 19 53209236 53209236 + Missense_Mutation SNP G G A TCGA-HD-7753-01A-11D-2078-08 TCGA-HD-7753-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7dc33525-6f57-4b12-9b72-c9c845296ae3 0ca58135-303a-4e85-896e-7f7c75481e42 g.chr19:53209236G>A uc002pzz.2 - 7 1389 c.1072C>T c.(1072-1074)CTT>TTT p.L358F ZNF611_uc010eqc.2_Missense_Mutation_p.L288F|ZNF611_uc010ydo.1_Missense_Mutation_p.L288F|ZNF611_uc010ydr.1_Missense_Mutation_p.L289F|ZNF611_uc010ydp.1_Missense_Mutation_p.L358F|ZNF611_uc010ydq.1_Missense_Mutation_p.L358F|ZNF611_uc002qaa.3_Missense_Mutation_p.L288F NM_030972 NP_112234 Q8N823 ZN611_HUMAN zinc finger protein 611 isoform a 358 C2H2-type 5. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 OV - Ovarian serous cystadenocarcinoma(262;0.0233)|GBM - Glioblastoma multiforme(134;0.04) TGATGTGAAAGTTGTGATTGT 0.343 NA 8 48 0 0 0 0 POMC 5443 broad.mit.edu 37 2 25387568 25387568 + Missense_Mutation SNP C C A rs143923583 byFrequency TCGA-HD-7753-01A-11D-2078-08 TCGA-HD-7753-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7dc33525-6f57-4b12-9b72-c9c845296ae3 0ca58135-303a-4e85-896e-7f7c75481e42 g.chr2:25387568C>A uc002rfy.1 - 3 337 c.74G>T c.(73-75)CGT>CTT p.R25L POMC_uc002rfz.1_Missense_Mutation_p.R25L|POMC_uc002rga.1_Missense_Mutation_p.R25L NM_001035256 NP_001030333 P01189 COLI_HUMAN proopiomelanocortin preproprotein 25 cell-cell signaling|cellular nitrogen compound metabolic process|cellular pigmentation|generation of precursor metabolites and energy|hormone biosynthetic process|negative regulation of tumor necrosis factor production|neuropeptide signaling pathway|peptide hormone processing|positive regulation of transcription from RNA polymerase II promoter|regulation of appetite|regulation of blood pressure extracellular space|stored secretory granule hormone activity|type 1 melanocortin receptor binding|type 3 melanocortin receptor binding|type 4 melanocortin receptor binding ovary(1) 1 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) Hydrocortisone(DB00741)|Loperamide(DB00836)|Trilostane(DB01108) GCACCAGCCACGCACTTCCAT 0.612 NA 21 41 1.02e-10 1.23e-10 1 0 B3GNT2 10678 broad.mit.edu 37 2 62450518 62450518 + Missense_Mutation SNP C C G TCGA-HD-7753-01A-11D-2078-08 TCGA-HD-7753-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7dc33525-6f57-4b12-9b72-c9c845296ae3 0ca58135-303a-4e85-896e-7f7c75481e42 g.chr2:62450518C>G uc002sbs.2 + 2 1401 c.1163C>G c.(1162-1164)TCT>TGT p.S388C NM_006577 NP_006568 Q9NY97 B3GN2_HUMAN UDP-GlcNAc:betaGal 388 Lumenal (Potential). Golgi membrane|integral to membrane UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity ovary(1) 1 Lung NSC(7;0.031)|all_lung(7;0.0634) LUSC - Lung squamous cell carcinoma(7;3.55e-06)|Epithelial(17;0.0963) GATATTTGGTCTCAGTTGCAG 0.323 NA 6 28 0 0 0 0 SLC35F5 80255 broad.mit.edu 37 2 114476737 114476737 + Missense_Mutation SNP A A T TCGA-HD-7753-01A-11D-2078-08 TCGA-HD-7753-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7dc33525-6f57-4b12-9b72-c9c845296ae3 0ca58135-303a-4e85-896e-7f7c75481e42 g.chr2:114476737A>T uc002tku.1 - 14 1914 c.1490T>A c.(1489-1491)ATT>AAT p.I497N SLC35F5_uc002tkt.2_RNA NM_025181 NP_079457 Q8WV83 S35F5_HUMAN solute carrier family 35, member F5 497 transport integral to membrane 0 TTACCTCTGAATTCGATGTTT 0.333 NA 6 30 0 0 0 0 LRP1B 53353 broad.mit.edu 37 2 140990803 140990803 + Missense_Mutation SNP T T A TCGA-HD-7753-01A-11D-2078-08 TCGA-HD-7753-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7dc33525-6f57-4b12-9b72-c9c845296ae3 0ca58135-303a-4e85-896e-7f7c75481e42 g.chr2:140990803T>A uc002tvj.1 - 91 14724 c.13752A>T c.(13750-13752)GAA>GAT p.E4584D NM_018557 NP_061027 Q9NZR2 LRP1B_HUMAN low density lipoprotein-related protein 1B 4584 Cytoplasmic (Potential). protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1) 50 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) TTGGAAGCAGTTCTTTCCTTT 0.328 NA TSP Lung(27;0.18) 7 28 0 0 0 0 RIF1 55183 broad.mit.edu 37 2 152276855 152276855 + Nonsense_Mutation SNP C C T TCGA-HD-7753-01A-11D-2078-08 TCGA-HD-7753-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7dc33525-6f57-4b12-9b72-c9c845296ae3 0ca58135-303a-4e85-896e-7f7c75481e42 g.chr2:152276855C>T uc002txm.2 + 7 785 c.655C>T c.(655-657)CAA>TAA p.Q219* RIF1_uc002txl.2_Nonsense_Mutation_p.Q219*|RIF1_uc010fnv.1_Nonsense_Mutation_p.Q183*|RIF1_uc002txn.2_Nonsense_Mutation_p.Q219*|RIF1_uc002txo.2_Nonsense_Mutation_p.Q219*|RIF1_uc010zby.1_RNA NM_018151 NP_060621 Q5UIP0 RIF1_HUMAN RAP1 interacting factor 1 219 cell cycle|response to DNA damage stimulus chromosome, telomeric region|cytoplasm|nucleus|spindle binding ovary(5)|breast(4)|skin(3)|lung(2)|kidney(1) 15 BRCA - Breast invasive adenocarcinoma(221;0.0429) TCAGAAACAGCAAGAAATAGC 0.413 NA 4 30 0 0 0 0 GALNT13 114805 broad.mit.edu 37 2 155252510 155252510 + Silent SNP C C T TCGA-HD-7753-01A-11D-2078-08 TCGA-HD-7753-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7dc33525-6f57-4b12-9b72-c9c845296ae3 0ca58135-303a-4e85-896e-7f7c75481e42 g.chr2:155252510C>T uc002tyr.3 + 10 1731 c.1164C>T c.(1162-1164)GTC>GTT p.V388V GALNT13_uc002tyt.3_Silent_p.V388V|GALNT13_uc010foc.1_Silent_p.V207V|GALNT13_uc010fod.2_Silent_p.V141V NM_052917 NP_443149 Q8IUC8 GLT13_HUMAN UDP-N-acetyl-alpha-D-galactosamine:polypeptide 388 Lumenal (Potential). Golgi membrane|integral to membrane polypeptide N-acetylgalactosaminyltransferase activity|sugar binding ovary(2)|pancreas(2)|central_nervous_system(1)|skin(1) 6 CAGGTGTTGTCAAAGTGGATT 0.353 NA 8 12 0 0 0 0 ARMC9 80210 broad.mit.edu 37 2 232079577 232079577 + Nonsense_Mutation SNP C C T TCGA-HD-7753-01A-11D-2078-08 TCGA-HD-7753-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7dc33525-6f57-4b12-9b72-c9c845296ae3 0ca58135-303a-4e85-896e-7f7c75481e42 g.chr2:232079577C>T uc002vrq.3 + 4 323 c.211C>T c.(211-213)CAG>TAG p.Q71* ARMC9_uc002vrp.3_Nonsense_Mutation_p.Q71* NM_025139 NP_079415 Q7Z3E5 ARMC9_HUMAN armadillo repeat containing 9 71 binding ovary(1) 1 Renal(207;0.0112)|all_lung(227;0.0744)|all_hematologic(139;0.0749)|Acute lymphoblastic leukemia(138;0.167)|Medulloblastoma(418;0.184)|Lung NSC(271;0.205) Epithelial(121;1.43e-10)|LUSC - Lung squamous cell carcinoma(224;0.017)|Lung(119;0.0189) CAACGGAGACCAGAAGGTGTT 0.463 NA 11 28 0 0 0 0 TTC3 7267 broad.mit.edu 37 21 38567994 38567994 + Missense_Mutation SNP C C T TCGA-HD-7753-01A-11D-2078-08 TCGA-HD-7753-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7dc33525-6f57-4b12-9b72-c9c845296ae3 0ca58135-303a-4e85-896e-7f7c75481e42 g.chr21:38567994C>T uc002yvz.2 + 42 5341 c.5236C>T c.(5236-5238)CCT>TCT p.P1746S TTC3_uc002ywa.2_Missense_Mutation_p.P1746S|TTC3_uc002ywb.2_Missense_Mutation_p.P1746S|TTC3_uc010gnf.2_Missense_Mutation_p.P1511S|TTC3_uc002ywc.2_Missense_Mutation_p.P1436S NM_001001894 NP_001001894 P53804 TTC3_HUMAN tetratricopeptide repeat domain 3 1746 protein K48-linked ubiquitination|ubiquitin-dependent protein catabolic process nucleus protein binding|ubiquitin-protein ligase activity|zinc ion binding skin(3)|ovary(2)|lung(2)|breast(2) 9 Myeloproliferative disorder(46;0.0412) CGAGTTACTCCCTGAGTCTTC 0.532 NA 39 145 0 0 0 0 UMODL1 89766 broad.mit.edu 37 21 43547902 43547902 + Silent SNP C C A TCGA-HD-7753-01A-11D-2078-08 TCGA-HD-7753-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7dc33525-6f57-4b12-9b72-c9c845296ae3 0ca58135-303a-4e85-896e-7f7c75481e42 g.chr21:43547902C>A uc002zaf.1 + 20 3651 c.3651C>A c.(3649-3651)CTC>CTA p.L1217L UMODL1_uc002zad.1_Silent_p.L1145L|UMODL1_uc002zae.1_Silent_p.L1273L|UMODL1_uc002zag.1_Silent_p.L1345L|UMODL1_uc002zal.1_Silent_p.L167L|UMODL1_uc010gpa.1_RNA NM_001004416 NP_001004416 Q5DID0 UROL1_HUMAN uromodulin-like 1 isoform 1 precursor 1217 Extracellular (Potential).|ZP. cytoplasm|extracellular region|integral to membrane|plasma membrane calcium ion binding|peptidase inhibitor activity ovary(2)|skin(1) 3 ACTGCAAACTCCGCGTCTGCA 0.468 NA 7 33 0.00198382 0.00213927 1 0 POTEH 23784 broad.mit.edu 37 22 16267045 16267045 + Silent SNP T T C TCGA-HD-7753-01A-11D-2078-08 TCGA-HD-7753-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7dc33525-6f57-4b12-9b72-c9c845296ae3 0ca58135-303a-4e85-896e-7f7c75481e42 g.chr22:16267045T>C uc010gqp.2 - 9 1456 c.1404A>G c.(1402-1404)GAA>GAG p.E468E POTEH_uc002zlg.1_RNA|POTEH_uc002zlh.1_Silent_p.E187E|POTEH_uc002zlj.1_Silent_p.E303E NM_001136213 NP_001129685 Q6S545 POTEH_HUMAN ANKRD26-like family C, member 3 468 skin(1) 1 TAGTCAGGTTTTCTGGGAATC 0.403 NA 42 197 0 0 0 0 TOM1 10043 broad.mit.edu 37 22 35726367 35726367 + Nonsense_Mutation SNP C C T TCGA-HD-7753-01A-11D-2078-08 TCGA-HD-7753-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7dc33525-6f57-4b12-9b72-c9c845296ae3 0ca58135-303a-4e85-896e-7f7c75481e42 g.chr22:35726367C>T uc003ann.2 + 8 918 c.793C>T c.(793-795)CAG>TAG p.Q265* TOM1_uc011ami.1_Nonsense_Mutation_p.Q232*|TOM1_uc011amj.1_Nonsense_Mutation_p.Q108*|TOM1_uc003ans.2_Nonsense_Mutation_p.Q108*|TOM1_uc011amk.1_Nonsense_Mutation_p.Q227*|TOM1_uc003anp.2_Nonsense_Mutation_p.Q265*|TOM1_uc011aml.1_Nonsense_Mutation_p.Q220*|TOM1_uc003ano.2_RNA|TOM1_uc003anq.2_Nonsense_Mutation_p.Q259*|TOM1_uc003anr.2_Nonsense_Mutation_p.Q108* NM_005488 NP_005479 O60784 TOM1_HUMAN target of myb1 isoform 1 265 GAT. endocytosis|endosome transport|intracellular protein transport cytosol|early endosome|membrane protein binding ovary(1) 1 CCGAGCCATGCAGCAGCGGGT 0.517 NA 32 67 0 0 0 0 LOC401052 401052 broad.mit.edu 37 3 10049172 10049172 + Missense_Mutation SNP C C G TCGA-HD-7753-01A-11D-2078-08 TCGA-HD-7753-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7dc33525-6f57-4b12-9b72-c9c845296ae3 0ca58135-303a-4e85-896e-7f7c75481e42 g.chr3:10049172C>G uc003bur.1 - 4 827 c.213G>C c.(211-213)CAG>CAC p.Q71H CIDEC_uc003bto.2_Intron NM_001008737 NP_001008737 B3KMQ7 B3KMQ7_HUMAN hypothetical protein LOC401052 71 0 ATTGGCCTTTCTGCTTCGATG 0.582 NA 37 54 0 0 0 0 PLCL2 23228 broad.mit.edu 37 3 17052602 17052602 + Missense_Mutation SNP A A C TCGA-HD-7753-01A-11D-2078-08 TCGA-HD-7753-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7dc33525-6f57-4b12-9b72-c9c845296ae3 0ca58135-303a-4e85-896e-7f7c75481e42 g.chr3:17052602A>C uc011awc.1 + 5 1845 c.1740A>C c.(1738-1740)GAA>GAC p.E580D PLCL2_uc011awd.1_Missense_Mutation_p.E462D NM_001144382 NP_001137854 Q9UPR0 PLCL2_HUMAN phospholipase C-like 2 isoform 1 588 intracellular signal transduction|lipid metabolic process cytoplasm calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity skin(2)|ovary(1)|lung(1) 4 ACGAAGATGAAGGAGCAGAAA 0.433 NA 10 9 0 0 0 0 UPK1B 7348 broad.mit.edu 37 3 118905597 118905597 + Missense_Mutation SNP A A T TCGA-HD-7753-01A-11D-2078-08 TCGA-HD-7753-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7dc33525-6f57-4b12-9b72-c9c845296ae3 0ca58135-303a-4e85-896e-7f7c75481e42 g.chr3:118905597A>T uc003ecc.2 + 2 98 c.9A>T c.(7-9)AAA>AAT p.K3N UPK1B_uc011bix.1_Intron|UPK1B_uc003ecd.2_Missense_Mutation_p.K3N NM_006952 NP_008883 O75841 UPK1B_HUMAN uroplakin 1B 3 Cytoplasmic (Potential). epithelial cell differentiation integral to membrane structural molecule activity 0 GBM - Glioblastoma multiforme(114;0.222) AGATGGCCAAAGACAACTCAA 0.418 NA 25 25 0 0 0 0 ZNF721 170960 broad.mit.edu 37 4 436033 436033 + Silent SNP G G A TCGA-HD-7753-01A-11D-2078-08 TCGA-HD-7753-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7dc33525-6f57-4b12-9b72-c9c845296ae3 0ca58135-303a-4e85-896e-7f7c75481e42 g.chr4:436033G>A uc003gag.2 - 3 2914 c.2223C>T c.(2221-2223)AAC>AAT p.N741N ABCA11P_uc003gac.2_Intron|ABCA11P_uc003gad.2_Intron|ABCA11P_uc011buv.1_Intron|ABCA11P_uc003gae.2_Intron|ABCA11P_uc010ibd.1_Intron|ZNF721_uc003gaf.3_Silent_p.N773N|ZNF721_uc010ibe.2_Silent_p.N729N NM_133474 NP_597731 D9N162 D9N162_HUMAN zinc finger protein 721 741 intracellular nucleic acid binding|zinc ion binding ovary(1) 1 TCTTATATTCGTTCAGGTTTG 0.388 NA 3 11 0 0 0 0 DDX60 55601 broad.mit.edu 37 4 169188752 169188752 + Missense_Mutation SNP G G A TCGA-HD-7753-01A-11D-2078-08 TCGA-HD-7753-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7dc33525-6f57-4b12-9b72-c9c845296ae3 0ca58135-303a-4e85-896e-7f7c75481e42 g.chr4:169188752G>A uc003irp.2 - 22 3312 c.3020C>T c.(3019-3021)GCT>GTT p.A1007V NM_017631 NP_060101 Q8IY21 DDX60_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 60 1007 ATP binding|ATP-dependent helicase activity|RNA binding ovary(1)|central_nervous_system(1)|pancreas(1) 3 Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132) GBM - Glioblastoma multiforme(119;0.0485) TGTTAGTGCAGCACATGGGTG 0.284 NA 11 38 0 0 0 0 C4orf41 60684 broad.mit.edu 37 4 184626159 184626159 + Silent SNP C C A TCGA-HD-7753-01A-11D-2078-08 TCGA-HD-7753-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7dc33525-6f57-4b12-9b72-c9c845296ae3 0ca58135-303a-4e85-896e-7f7c75481e42 g.chr4:184626159C>A uc003ivx.2 + 27 3167 c.2991C>A c.(2989-2991)ATC>ATA p.I997I C4orf41_uc003ivw.2_Silent_p.I997I|C4orf41_uc010isc.2_Silent_p.I341I|C4orf41_uc003ivy.2_Silent_p.I603I NM_021942 NP_068761 Q7Z392 CD041_HUMAN hypothetical protein LOC60684 isoform a 997 0 all_lung(41;4.4e-14)|Lung NSC(41;1.03e-13)|Colorectal(36;0.00139)|all_hematologic(60;0.00756)|Hepatocellular(41;0.00826)|Renal(120;0.00988)|Prostate(90;0.0235)|all_neural(102;0.202) all cancers(43;1.39e-26)|Epithelial(43;2.42e-22)|OV - Ovarian serous cystadenocarcinoma(60;6.85e-10)|GBM - Glioblastoma multiforme(59;6.71e-06)|Colorectal(24;9.67e-06)|STAD - Stomach adenocarcinoma(60;2.36e-05)|COAD - Colon adenocarcinoma(29;7.07e-05)|LUSC - Lung squamous cell carcinoma(40;0.00984)|READ - Rectum adenocarcinoma(43;0.171) ATATCCCCATCATCACAACTG 0.358 NA 35 85 2.95e-19 3.68e-19 1 0 SORBS2 8470 broad.mit.edu 37 4 186545478 186545478 + Missense_Mutation SNP C C A TCGA-HD-7753-01A-11D-2078-08 TCGA-HD-7753-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7dc33525-6f57-4b12-9b72-c9c845296ae3 0ca58135-303a-4e85-896e-7f7c75481e42 g.chr4:186545478C>A uc003iyl.2 - 13 1951 c.1093G>T c.(1093-1095)GCA>TCA p.A365S SORBS2_uc003iyh.2_Intron|SORBS2_uc011ckw.1_Intron|SORBS2_uc003iyi.2_Intron|SORBS2_uc011ckx.1_Intron|SORBS2_uc003iyk.2_Intron|SORBS2_uc003iym.2_Missense_Mutation_p.A465S|SORBS2_uc003iyn.1_Intron|SORBS2_uc011cku.1_Intron|SORBS2_uc011ckv.1_Missense_Mutation_p.A269S|SORBS2_uc003iyd.2_Intron|SORBS2_uc003iye.2_Intron|SORBS2_uc003iya.2_Intron|SORBS2_uc003iyb.2_Intron|SORBS2_uc003iyc.2_Intron|SORBS2_uc003iyg.2_Missense_Mutation_p.A479S|SORBS2_uc003iyf.2_Intron|SORBS2_uc003iyo.1_Intron NM_021069 NP_066547 O94875 SRBS2_HUMAN sorbin and SH3 domain containing 2 isoform 2 365 actin cytoskeleton|nucleus|perinuclear region of cytoplasm|Z disc cytoskeletal adaptor activity|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding ovary(1) 1 all_cancers(14;4.27e-52)|all_epithelial(14;6.58e-39)|all_lung(41;1.42e-13)|Lung NSC(41;3.73e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00692)|Hepatocellular(41;0.00826)|Renal(120;0.00994)|Prostate(90;0.0101)|all_hematologic(60;0.0174)|all_neural(102;0.244) OV - Ovarian serous cystadenocarcinoma(60;1.54e-09)|BRCA - Breast invasive adenocarcinoma(30;0.000232)|GBM - Glioblastoma multiforme(59;0.000385)|STAD - Stomach adenocarcinoma(60;0.00109)|LUSC - Lung squamous cell carcinoma(40;0.0205) CAGATTTCTGCGTTTTGCCGG 0.522 NA 19 52 2.38e-13 2.9e-13 1 0 KLKB1 3818 broad.mit.edu 37 4 187179174 187179174 + Splice_Site SNP G G T TCGA-HD-7753-01A-11D-2078-08 TCGA-HD-7753-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7dc33525-6f57-4b12-9b72-c9c845296ae3 0ca58135-303a-4e85-896e-7f7c75481e42 g.chr4:187179174G>T uc003iyy.2 + 15 1797 c.1726_splice c.e15-1 p.G576_splice KLKB1_uc011clc.1_Splice_Site_p.G374_splice|KLKB1_uc011cld.1_Splice_Site_p.G491_splice NM_000892 NP_000883 P03952 KLKB1_HUMAN plasma kallikrein B1 precursor blood coagulation, intrinsic pathway|Factor XII activation|fibrinolysis|plasminogen activation|positive regulation of fibrinolysis cytoplasm|extracellular space|plasma membrane serine-type endopeptidase activity ovary(1) 1 all_cancers(14;1.55e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00664)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243) OV - Ovarian serous cystadenocarcinoma(60;1.29e-10)|BRCA - Breast invasive adenocarcinoma(30;3.8e-05)|GBM - Glioblastoma multiforme(59;0.000131)|STAD - Stomach adenocarcinoma(60;0.000292)|LUSC - Lung squamous cell carcinoma(40;0.00241)|READ - Rectum adenocarcinoma(43;0.168) CTGTGACTCAGGGAGATTCAG 0.478 NA 16 43 2e-07 2.3e-07 1 0 IRX1 79192 broad.mit.edu 37 5 3601102 3601102 + Missense_Mutation SNP T T C TCGA-HD-7753-01A-11D-2078-08 TCGA-HD-7753-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7dc33525-6f57-4b12-9b72-c9c845296ae3 0ca58135-303a-4e85-896e-7f7c75481e42 g.chr5:3601102T>C uc003jde.2 + 4 1443 c.1391T>C c.(1390-1392)CTG>CCG p.L464P NM_024337 NP_077313 P78414 IRX1_HUMAN iroquois homeobox protein 1 464 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity ovary(1)|pancreas(1) 2 TGCAGCTCTCTGGCCCCGCAG 0.662 NA 14 53 0 0 0 0 PRDM9 56979 broad.mit.edu 37 5 23522415 23522415 + Missense_Mutation SNP C C G TCGA-HD-7753-01A-11D-2078-08 TCGA-HD-7753-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7dc33525-6f57-4b12-9b72-c9c845296ae3 0ca58135-303a-4e85-896e-7f7c75481e42 g.chr5:23522415C>G uc003jgo.2 + 7 693 c.511C>G c.(511-513)CTC>GTC p.L171V NM_020227 NP_064612 Q9NQV7 PRDM9_HUMAN PR domain containing 9 171 meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nucleoplasm histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding ovary(3)|large_intestine(2)|pancreas(1) 6 CAACCTAGAACTCAGGAAGAA 0.433 NA HNSCC(3;0.000094) 26 93 0 0 0 0 CDH10 1008 broad.mit.edu 37 5 24505331 24505331 + Missense_Mutation SNP A A T TCGA-HD-7753-01A-11D-2078-08 TCGA-HD-7753-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7dc33525-6f57-4b12-9b72-c9c845296ae3 0ca58135-303a-4e85-896e-7f7c75481e42 g.chr5:24505331A>T uc003jgr.1 - 8 1615 c.1283T>A c.(1282-1284)CTT>CAT p.L428H CDH10_uc011cnu.1_Intron NM_006727 NP_006718 Q9Y6N8 CAD10_HUMAN cadherin 10, type 2 preproprotein 428 Cadherin 4.|Extracellular (Potential). adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(6)|pancreas(4)|breast(2) 12 STAD - Stomach adenocarcinoma(35;0.0556) GATTCTGTCAAGGTCAGTATG 0.358 NA HNSCC(23;0.051) 17 35 0 0 0 0 PRKAA1 5562 broad.mit.edu 37 5 40767661 40767661 + Missense_Mutation SNP T T C TCGA-HD-7753-01A-11D-2078-08 TCGA-HD-7753-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7dc33525-6f57-4b12-9b72-c9c845296ae3 0ca58135-303a-4e85-896e-7f7c75481e42 g.chr5:40767661T>C uc003jmc.2 - 6 734 c.728A>G c.(727-729)TAT>TGT p.Y243C PRKAA1_uc003jmb.2_Missense_Mutation_p.Y258C NM_006251 NP_006242 Q13131 AAPK1_HUMAN protein kinase, AMP-activated, alpha 1 catalytic 243 Protein kinase. activation of MAPK activity|cell cycle arrest|cholesterol biosynthetic process|fatty acid biosynthetic process|insulin receptor signaling pathway|negative regulation of glucosylceramide biosynthetic process|positive regulation of anti-apoptosis|positive regulation of cholesterol biosynthetic process|regulation of fatty acid oxidation|response to hypoxia cytosol ATP binding|cAMP-dependent protein kinase activity|metal ion binding|protein binding breast(1) 1 Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)|Phenformin(DB00914) TTGAGGGGTATAGAAGATCCC 0.388 NA 15 79 0 0 0 0 PCDHA3 56145 broad.mit.edu 37 5 140182317 140182317 + Missense_Mutation SNP C C A TCGA-HD-7753-01A-11D-2078-08 TCGA-HD-7753-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7dc33525-6f57-4b12-9b72-c9c845296ae3 0ca58135-303a-4e85-896e-7f7c75481e42 g.chr5:140182317C>A uc003lhf.2 + 1 1535 c.1535C>A c.(1534-1536)GCG>GAG p.A512E PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA2_uc011czy.1_Intron|PCDHA3_uc011czz.1_Missense_Mutation_p.A512E NM_018906 NP_061729 Q9Y5H8 PCDA3_HUMAN protocadherin alpha 3 isoform 1 precursor 512 Cadherin 5.|Extracellular (Potential). homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding|protein binding ovary(6)|skin(2) 8 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TCGGTACACGCGGAGAGCGGC 0.706 NA 42 41 2.25e-16 2.79e-16 1 0 ZNF354C 30832 broad.mit.edu 37 5 178505981 178505981 + Missense_Mutation SNP T T C TCGA-HD-7753-01A-11D-2078-08 TCGA-HD-7753-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7dc33525-6f57-4b12-9b72-c9c845296ae3 0ca58135-303a-4e85-896e-7f7c75481e42 g.chr5:178505981T>C uc003mju.2 + 5 663 c.548T>C c.(547-549)ATA>ACA p.I183T NM_014594 NP_055409 Q86Y25 Z354C_HUMAN zinc finger protein 354C 183 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 all_cancers(89;0.00065)|all_epithelial(37;0.000153)|Renal(175;0.000159)|Lung NSC(126;0.00175)|all_lung(126;0.00309) all_cancers(40;0.19)|all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) all cancers(165;0.247) AGTGTTCCTATAGAAAGGATA 0.358 NA 18 19 0 0 0 0 FAM83B 222584 broad.mit.edu 37 6 54804723 54804723 + Missense_Mutation SNP C C G TCGA-HD-7753-01A-11D-2078-08 TCGA-HD-7753-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7dc33525-6f57-4b12-9b72-c9c845296ae3 0ca58135-303a-4e85-896e-7f7c75481e42 g.chr6:54804723C>G uc003pck.2 + 5 1070 c.954C>G c.(952-954)AGC>AGG p.S318R NM_001010872 NP_001010872 Q5T0W9 FA83B_HUMAN hypothetical protein LOC222584 318 ovary(6) 6 Lung NSC(77;0.0178)|Renal(3;0.122) CTGTTTCCAGCCAGAGAAACC 0.388 NA 19 47 0 0 0 0 ABCA13 154664 broad.mit.edu 37 7 48318540 48318540 + Silent SNP A A G TCGA-HD-7753-01A-11D-2078-08 TCGA-HD-7753-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7dc33525-6f57-4b12-9b72-c9c845296ae3 0ca58135-303a-4e85-896e-7f7c75481e42 g.chr7:48318540A>G uc003toq.2 + 18 7774 c.7749A>G c.(7747-7749)ACA>ACG p.T2583T ABCA13_uc010kys.1_5'Flank NM_152701 NP_689914 Q86UQ4 ABCAD_HUMAN ATP binding cassette, sub-family A (ABC1), 2583 transport integral to membrane ATP binding|ATPase activity ovary(5)|central_nervous_system(4)|skin(1) 10 ATCATTTCACATTTGAAAAGA 0.308 NA 29 45 0 0 0 0 PARP12 64761 broad.mit.edu 37 7 139737556 139737556 + Missense_Mutation SNP T T C TCGA-HD-7753-01A-11D-2078-08 TCGA-HD-7753-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7dc33525-6f57-4b12-9b72-c9c845296ae3 0ca58135-303a-4e85-896e-7f7c75481e42 g.chr7:139737556T>C uc003vvl.1 - 7 2157 c.1283A>G c.(1282-1284)AAG>AGG p.K428R PARP12_uc003vvk.1_Missense_Mutation_p.K214R|PARP12_uc010lnf.1_Intron NM_022750 NP_073587 Q9H0J9 PAR12_HUMAN poly ADP-ribose polymerase 12 428 WWE 2. nucleus NAD+ ADP-ribosyltransferase activity|nucleic acid binding|zinc ion binding ovary(3) 3 Melanoma(164;0.0142) GGCCTGGAACTTCAAGGTGGC 0.602 NA 11 26 0 0 0 0 OR2A2 442361 broad.mit.edu 37 7 143806912 143806912 + Missense_Mutation SNP G G T TCGA-HD-7753-01A-11D-2078-08 TCGA-HD-7753-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7dc33525-6f57-4b12-9b72-c9c845296ae3 0ca58135-303a-4e85-896e-7f7c75481e42 g.chr7:143806912G>T uc011ktz.1 + 1 237 c.237G>T c.(235-237)AAG>AAT p.K79N NM_001005480 NP_001005480 Q6IF42 OR2A2_HUMAN olfactory receptor, family 2, subfamily A, 79 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2) 2 Melanoma(164;0.0783) ATGTTCCCAAGATGTTGGCAA 0.433 NA 27 152 4.72e-08 5.48e-08 1 0 CNTNAP2 26047 broad.mit.edu 37 7 146825855 146825855 + Missense_Mutation SNP T T G TCGA-HD-7753-01A-11D-2078-08 TCGA-HD-7753-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7dc33525-6f57-4b12-9b72-c9c845296ae3 0ca58135-303a-4e85-896e-7f7c75481e42 g.chr7:146825855T>G uc003weu.1 + 7 1526 c.1010T>G c.(1009-1011)ATG>AGG p.M337R NM_014141 NP_054860 Q9UHC6 CNTP2_HUMAN cell recognition molecule Caspr2 precursor 337 Laminin G-like 1.|Extracellular (Potential). behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex receptor binding ovary(9)|central_nervous_system(1)|pancreas(1) 11 Melanoma(164;0.153) all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794) OV - Ovarian serous cystadenocarcinoma(82;0.0319) AAAGGCTGCATGGAAAGCATC 0.408 NA HNSCC(39;0.1) 40 70 0 0 0 0 SMARCD3 6604 broad.mit.edu 37 7 150936506 150936506 + Silent SNP G G A rs139287814 TCGA-HD-7753-01A-11D-2078-08 TCGA-HD-7753-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7dc33525-6f57-4b12-9b72-c9c845296ae3 0ca58135-303a-4e85-896e-7f7c75481e42 g.chr7:150936506G>A uc003wjs.2 - 12 1475 c.1374C>T c.(1372-1374)GCC>GCT p.A458A SMARCD3_uc003wjt.2_Silent_p.A445A|SMARCD3_uc003wju.2_Silent_p.A445A NM_001003801 NP_001003801 Q6STE5 SMRD3_HUMAN SWI/SNF related, matrix associated, actin 458 cellular lipid metabolic process|chromatin modification|nervous system development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex nuclear hormone receptor binding|protein binding|transcription coactivator activity|transcription factor binding ovary(1)|lung(1) 2 OV - Ovarian serous cystadenocarcinoma(82;0.00448) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) AGCGACTGACGGCCTCCTGGG 0.612 NA 12 34 0 0 0 0 DPP6 1804 broad.mit.edu 37 7 154585880 154585880 + Missense_Mutation SNP C C G TCGA-HD-7753-01A-11D-2078-08 TCGA-HD-7753-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7dc33525-6f57-4b12-9b72-c9c845296ae3 0ca58135-303a-4e85-896e-7f7c75481e42 g.chr7:154585880C>G uc003wlk.2 + 11 1357 c.1228C>G c.(1228-1230)CTC>GTC p.L410V DPP6_uc003wli.2_Missense_Mutation_p.L346V|DPP6_uc003wlm.2_Missense_Mutation_p.L348V|DPP6_uc011kvq.1_Missense_Mutation_p.L303V NM_130797 NP_570629 P42658 DPP6_HUMAN dipeptidyl-peptidase 6 isoform 1 410 Extracellular (Potential). cell death|proteolysis integral to membrane dipeptidyl-peptidase activity|serine-type peptidase activity pancreas(3)|breast(1) 4 all_neural(206;0.181) all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204) OV - Ovarian serous cystadenocarcinoma(82;0.0562) CATCCTCACCCTCTGCGACGC 0.657 NA 4 10 0 0 0 0 CSMD1 64478 broad.mit.edu 37 8 2832027 2832027 + Missense_Mutation SNP T T C TCGA-HD-7753-01A-11D-2078-08 TCGA-HD-7753-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7dc33525-6f57-4b12-9b72-c9c845296ae3 0ca58135-303a-4e85-896e-7f7c75481e42 g.chr8:2832027T>C uc011kwk.1 - 56 9079 c.8689A>G c.(8689-8691)ACG>GCG p.T2897A CSMD1_uc011kwj.1_Missense_Mutation_p.T2226A|CSMD1_uc010lrg.2_Missense_Mutation_p.T907A NM_033225 NP_150094 Q96PZ7 CSMD1_HUMAN CUB and Sushi multiple domains 1 precursor 2897 Sushi 21.|Extracellular (Potential). integral to membrane breast(20)|large_intestine(5) 25 all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234) all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689) CACACTCTCGTGTCGTTGCCT 0.572 NA 5 8 0 0 0 0 CYP7A1 1581 broad.mit.edu 37 8 59409370 59409370 + Missense_Mutation SNP G G T TCGA-HD-7753-01A-11D-2078-08 TCGA-HD-7753-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7dc33525-6f57-4b12-9b72-c9c845296ae3 0ca58135-303a-4e85-896e-7f7c75481e42 g.chr8:59409370G>T uc003xtm.3 - 3 764 c.701C>A c.(700-702)GCC>GAC p.A234D NM_000780 NP_000771 P22680 CP7A1_HUMAN cytochrome P450, family 7, subfamily A, 234 bile acid biosynthetic process|cellular lipid metabolic process|cellular response to cholesterol|cellular response to glucose stimulus|cholesterol catabolic process|cholesterol homeostasis|regulation of bile acid biosynthetic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome cholesterol 7-alpha-monooxygenase activity|electron carrier activity|heme binding ovary(1) 1 all_lung(136;0.0271)|Lung NSC(129;0.0351)|all_epithelial(80;0.0554) TTTCTCCCGGGCATTGTGCGC 0.488 NA Neonatal_Giant_Cell_Hepatitis 20 76 1.16e-05 1.32e-05 1 0 TRHR 7201 broad.mit.edu 37 8 110131301 110131301 + Missense_Mutation SNP G G T TCGA-HD-7753-01A-11D-2078-08 TCGA-HD-7753-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7dc33525-6f57-4b12-9b72-c9c845296ae3 0ca58135-303a-4e85-896e-7f7c75481e42 g.chr8:110131301G>T uc003ymz.3 + 2 830 c.814G>T c.(814-816)GTA>TTA p.V272L NM_003301 NP_003292 P34981 TRFR_HUMAN thyrotropin-releasing hormone receptor 272 Helical; Name=6; (Potential). integral to plasma membrane thyrotropin-releasing hormone receptor activity p.V272A(1) skin(2)|lung(1) 3 OV - Ovarian serous cystadenocarcinoma(57;2.3e-11) GGCAGTGGTTGTAATTCTGTT 0.413 NA 152 134 3.55e-78 4.48e-78 1 0 KDM4C 23081 broad.mit.edu 37 9 6986506 6986506 + Missense_Mutation SNP C C T TCGA-HD-7753-01A-11D-2078-08 TCGA-HD-7753-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7dc33525-6f57-4b12-9b72-c9c845296ae3 0ca58135-303a-4e85-896e-7f7c75481e42 g.chr9:6986506C>T uc003zkh.2 + 11 2097 c.1517C>T c.(1516-1518)TCA>TTA p.S506L KDM4C_uc010mhu.2_Missense_Mutation_p.S528L|KDM4C_uc011lmi.1_Missense_Mutation_p.S506L|KDM4C_uc011lmj.1_RNA|KDM4C_uc003zkg.2_Missense_Mutation_p.S506L|KDM4C_uc011lmk.1_Missense_Mutation_p.S325L|KDM4C_uc011lml.1_Missense_Mutation_p.S193L NM_015061 NP_055876 Q9H3R0 KDM4C_HUMAN jumonji domain containing 2C isoform 1 506 positive regulation of cell proliferation|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription, DNA-dependent nuclear chromatin androgen receptor binding|enzyme binding|histone demethylase activity (H3-K9 specific)|nucleic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding ovary(1) 1 TCCGAGCTTTCATGGCCAAAG 0.478 NA 17 24 0 0 0 0 VPS13A 23230 broad.mit.edu 37 9 79898351 79898351 + Missense_Mutation SNP G G C TCGA-HD-7753-01A-11D-2078-08 TCGA-HD-7753-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7dc33525-6f57-4b12-9b72-c9c845296ae3 0ca58135-303a-4e85-896e-7f7c75481e42 g.chr9:79898351G>C uc004akr.2 + 30 3459 c.3199G>C c.(3199-3201)GAT>CAT p.D1067H VPS13A_uc004akp.3_Missense_Mutation_p.D1067H|VPS13A_uc004akq.3_Missense_Mutation_p.D1067H|VPS13A_uc004aks.2_Intron NM_033305 NP_150648 Q96RL7 VP13A_HUMAN vacuolar protein sorting 13A isoform A 1067 Golgi to endosome transport|protein transport intracellular protein binding pancreas(3)|skin(3)|ovary(2)|large_intestine(1)|central_nervous_system(1) 10 CTTTATTCAAGATCAGAAATG 0.254 NA 10 10 0 0 0 0 KIF27 55582 broad.mit.edu 37 9 86518343 86518343 + Missense_Mutation SNP T T G TCGA-HD-7753-01A-11D-2078-08 TCGA-HD-7753-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7dc33525-6f57-4b12-9b72-c9c845296ae3 0ca58135-303a-4e85-896e-7f7c75481e42 g.chr9:86518343T>G uc004ana.2 - 4 1234 c.1090A>C c.(1090-1092)AAA>CAA p.K364Q KIF27_uc010mpw.2_Missense_Mutation_p.K364Q|KIF27_uc010mpx.2_Missense_Mutation_p.K364Q NM_017576 NP_060046 Q86VH2 KIF27_HUMAN kinesin family member 27 364 Potential. cilium assembly|microtubule-based movement cilium|cytoplasm|microtubule ATP binding|microtubule motor activity lung(4)|skin(1) 5 CGAAGCAATTTAATCTCAAAT 0.433 NA 19 57 0 0 0 0 MID1 4281 broad.mit.edu 37 X 10535569 10535569 + Nonsense_Mutation SNP C C A TCGA-HD-7753-01A-11D-2078-08 TCGA-HD-7753-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7dc33525-6f57-4b12-9b72-c9c845296ae3 0ca58135-303a-4e85-896e-7f7c75481e42 g.chrX:10535569C>A uc004cte.3 - 2 210 c.19G>T c.(19-21)GAA>TAA p.E7* MID1_uc004ctd.3_5'Flank|MID1_uc004ctg.3_Nonsense_Mutation_p.E7*|MID1_uc004cth.3_Nonsense_Mutation_p.E7*|MID1_uc004ctk.3_Nonsense_Mutation_p.E7*|MID1_uc004cti.3_Nonsense_Mutation_p.E7*|MID1_uc004ctj.3_Nonsense_Mutation_p.E7*|MID1_uc011mie.1_RNA|MID1_uc004ctm.1_Nonsense_Mutation_p.E7*|MID1_uc004ctn.1_Nonsense_Mutation_p.E7*|MID1_uc004cto.1_Nonsense_Mutation_p.E7*|MID1_uc010ndw.1_5'Flank|MID1_uc004cts.1_5'Flank|MID1_uc004ctt.2_Nonsense_Mutation_p.E7*|MID1_uc004ctu.2_Nonsense_Mutation_p.E7*|MID1_uc004ctv.2_Nonsense_Mutation_p.E7*|MID1_uc004ctw.2_Nonsense_Mutation_p.E7*|MID1_uc010ndy.1_Nonsense_Mutation_p.E7*|uc010ndz.1_5'Flank|MID1_uc004cty.2_Nonsense_Mutation_p.E7*|MID1_uc004ctz.1_5'Flank|MID1_uc004cua.1_RNA|MID1_uc004cub.1_Nonsense_Mutation_p.E7*|MID1_uc010nea.1_5'Flank|MID1_uc004cuc.1_Nonsense_Mutation_p.E7*|MID1_uc004cud.1_Nonsense_Mutation_p.E7*|MID1_uc004cue.1_Nonsense_Mutation_p.E7*|MID1_uc004cuf.1_Nonsense_Mutation_p.E7*|MID1_uc004cug.1_Nonsense_Mutation_p.E7* NM_033290 NP_150632 O15344 TRI18_HUMAN midline 1 7 microtubule cytoskeleton organization|pattern specification process|positive regulation of stress-activated MAPK cascade cytoplasm|microtubule|microtubule associated complex|spindle ligase activity|ubiquitin protein ligase binding|zinc ion binding ovary(2)|pancreas(1) 3 CAGGTCAGTTCTGACTCCAGT 0.493 NA 28 20 4.88e-14 5.98e-14 1 0 GPR64 10149 broad.mit.edu 37 X 19022940 19022940 + Missense_Mutation SNP A A G TCGA-HD-7753-01A-11D-2078-08 TCGA-HD-7753-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7dc33525-6f57-4b12-9b72-c9c845296ae3 0ca58135-303a-4e85-896e-7f7c75481e42 g.chrX:19022940A>G uc004cyx.2 - 23 2061 c.1897T>C c.(1897-1899)TAT>CAT p.Y633H GPR64_uc004cyy.2_Missense_Mutation_p.Y630H|GPR64_uc004cyz.2_Missense_Mutation_p.Y619H|GPR64_uc004czb.2_Missense_Mutation_p.Y633H|GPR64_uc004czc.2_Missense_Mutation_p.Y617H|GPR64_uc004czd.2_Missense_Mutation_p.Y609H|GPR64_uc004cze.2_Missense_Mutation_p.Y603H|GPR64_uc004czf.2_Missense_Mutation_p.Y595H|GPR64_uc004cza.2_Missense_Mutation_p.Y611H|GPR64_uc004cyw.2_Missense_Mutation_p.Y617H|GPR64_uc010nfj.2_Missense_Mutation_p.Y514H NM_001079858 NP_001073327 Q8IZP9 GPR64_HUMAN G protein-coupled receptor 64 isoform 1 633 Helical; Name=1; (Potential). neuropeptide signaling pathway|spermatogenesis cytoplasm|integral to plasma membrane G-protein coupled receptor activity 0 Hepatocellular(33;0.183) CAACCAATATATGTAATGAAC 0.353 NA 27 56 0 0 0 0 KDM6A 7403 broad.mit.edu 37 X 44922694 44922694 + Nonsense_Mutation SNP C C T TCGA-HD-7753-01A-11D-2078-08 TCGA-HD-7753-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7dc33525-6f57-4b12-9b72-c9c845296ae3 0ca58135-303a-4e85-896e-7f7c75481e42 g.chrX:44922694C>T uc004dge.3 + 16 1930 c.1555C>T c.(1555-1557)CGA>TGA p.R519* KDM6A_uc010nhk.2_Nonsense_Mutation_p.R485*|KDM6A_uc011mkz.1_Nonsense_Mutation_p.R571*|KDM6A_uc011mla.1_Nonsense_Mutation_p.R474*|KDM6A_uc011mlb.1_Nonsense_Mutation_p.R526*|KDM6A_uc011mlc.1_Nonsense_Mutation_p.R223*|KDM6A_uc011mld.1_Nonsense_Mutation_p.R158* NM_021140 NP_066963 O15550 KDM6A_HUMAN ubiquitously transcribed tetratricopeptide 519 histone H3-K4 methylation metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen kidney(24)|haematopoietic_and_lymphoid_tissue(23)|oesophagus(11)|large_intestine(7)|lung(5)|breast(4)|central_nervous_system(3)|urinary_tract(3)|endometrium(2)|pancreas(2) 84 TGCACAGGTACGATCTACTGG 0.463 NA D|N|F|S renal|oesophageal SCC|MM 18 37 0 0 0 0 ZNF711 7552 broad.mit.edu 37 X 84526033 84526033 + Silent SNP G G A TCGA-HD-7753-01A-11D-2078-08 TCGA-HD-7753-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7dc33525-6f57-4b12-9b72-c9c845296ae3 0ca58135-303a-4e85-896e-7f7c75481e42 g.chrX:84526033G>A uc004eeo.2 + 9 1832 c.1485G>A c.(1483-1485)TTG>TTA p.L495L ZNF711_uc004eep.2_Silent_p.L495L|ZNF711_uc004eeq.2_Silent_p.L541L|ZNF711_uc011mqy.1_Silent_p.L94L NM_021998 NP_068838 Q9Y462 ZN711_HUMAN zinc finger protein 711 495 C2H2-type 3. positive regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding|sequence-specific DNA binding|zinc ion binding ovary(3)|skin(1) 4 ACAGGCATTTGTTGGCCGTTC 0.408 NA 3 29 0 0 0 0 RGAG1 57529 broad.mit.edu 37 X 109696372 109696372 + Nonsense_Mutation SNP G G T TCGA-HD-7753-01A-11D-2078-08 TCGA-HD-7753-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7dc33525-6f57-4b12-9b72-c9c845296ae3 0ca58135-303a-4e85-896e-7f7c75481e42 g.chrX:109696372G>T uc004eor.1 + 3 2773 c.2527G>T c.(2527-2529)GGA>TGA p.G843* RGAG1_uc011msr.1_Nonsense_Mutation_p.G843* NM_020769 NP_065820 Q8NET4 RGAG1_HUMAN retrotransposon gag domain containing 1 843 lung(2)|upper_aerodigestive_tract(1)|ovary(1) 4 TCCCATCTCTGGAGCAATGTC 0.517 NA 61 32 1.5e-40 1.88e-40 1 0 VPS13D 55187 broad.mit.edu 37 1 12414089 12414090 + Frame_Shift_Del DEL TC TC - TCGA-HD-7753-01A-11D-2078-08 TCGA-HD-7753-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7dc33525-6f57-4b12-9b72-c9c845296ae3 0ca58135-303a-4e85-896e-7f7c75481e42 g.chr1:12414089_12414090delTC uc001atv.2 + 47 9631_9632 c.9490_9491delTC c.(9490-9492)TCTfs p.S3164fs VPS13D_uc001atw.2_Frame_Shift_Del_p.S3139fs|VPS13D_uc001atx.2_Frame_Shift_Del_p.S2351fs NM_015378 NP_056193 Q5THJ4 VP13D_HUMAN vacuolar protein sorting 13D isoform 1 3163 protein localization ovary(4)|pancreas(1) 5 Ovarian(185;0.249) Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209) AAACATATTTTCTGACAGTGCA 0.356 NA 7 47 --- --- --- --- NA NA NA NA LGR4 55366 broad.mit.edu 37 11 27390526 27390527 + Frame_Shift_Ins INS - - AGAAATCA TCGA-HD-7753-01A-11D-2078-08 TCGA-HD-7753-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7dc33525-6f57-4b12-9b72-c9c845296ae3 0ca58135-303a-4e85-896e-7f7c75481e42 g.chr11:27390526_27390527insAGAAATCA uc001mrj.3 - 18 2228_2229 c.1743_1744insTGATTTCT c.(1741-1746)TCTGTGfs p.S581fs LGR4_uc001mrk.3_Frame_Shift_Ins_p.S557fs NM_018490 NP_060960 Q9BXB1 LGR4_HUMAN leucine-rich repeat-containing G protein-coupled 581_582 Helical; Name=2; (Potential). integral to membrane|plasma membrane protein-hormone receptor activity ovary(1) 1 AAGTTAGACACAGAAATCAAGC 0.386 NA 13 57 --- --- --- --- NA NA NA NA JUB 84962 broad.mit.edu 37 14 23451177 23451177 + Frame_Shift_Del DEL G G - TCGA-HD-7753-01A-11D-2078-08 TCGA-HD-7753-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7dc33525-6f57-4b12-9b72-c9c845296ae3 0ca58135-303a-4e85-896e-7f7c75481e42 g.chr14:23451177delG uc001whz.2 - 1 675 c.299delC c.(298-300)CCTfs p.P100fs NM_032876 NP_116265 Q96IF1 JUB_HUMAN ajuba isoform 1 100 PreLIM. cell cycle|gene silencing by miRNA|positive regulation of protein complex assembly cell-cell junction|cytoplasmic mRNA processing body|microtubule organizing center alpha-catenin binding|zinc ion binding 0 all_cancers(95;4.6e-05) GBM - Glioblastoma multiforme(265;0.0122) CTGAGGTAGAGGCAAGGCCCG 0.701 NA 4 4 --- --- --- --- NA NA NA NA HERC2 8924 broad.mit.edu 37 15 28446658 28446659 + Frame_Shift_Ins INS - - T rs146159039 byFrequency TCGA-HD-7753-01A-11D-2078-08 TCGA-HD-7753-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7dc33525-6f57-4b12-9b72-c9c845296ae3 0ca58135-303a-4e85-896e-7f7c75481e42 g.chr15:28446658_28446659insT uc001zbj.2 - 48 7765_7766 c.7659_7660insA c.(7657-7662)AAACGAfs p.K2553fs HERC2_uc001zbk.1_Frame_Shift_Ins_p.K88fs NM_004667 NP_004658 O95714 HERC2_HUMAN hect domain and RLD 2 2553_2554 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) AAATCAGCTCGTTTTTTGTACG 0.366 NA 27 59 --- --- --- --- NA NA NA NA VASN 114990 broad.mit.edu 37 16 4432380 4432381 + Frame_Shift_Ins INS - - A TCGA-HD-7753-01A-11D-2078-08 TCGA-HD-7753-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7dc33525-6f57-4b12-9b72-c9c845296ae3 0ca58135-303a-4e85-896e-7f7c75481e42 g.chr16:4432380_4432381insA uc002cwj.1 + 2 1657_1658 c.1502_1503insA c.(1501-1503)CTAfs p.L501fs CORO7_uc002cwe.2_Intron|CORO7_uc002cwf.2_Intron|CORO7_uc002cwg.3_Intron|CORO7_uc002cwh.3_Intron|CORO7_uc010uxh.1_Intron|CORO7_uc010uxi.1_Intron|CORO7_uc002cwi.1_Intron|CORO7_uc010uxj.1_Intron|CORO7_uc010btp.1_Intron NM_138440 NP_612449 Q6EMK4 VASN_HUMAN slit-like 2 precursor 501 Fibronectin type-III.|Extracellular (Potential). extracellular region|integral to membrane 0 TATCGCAACCTATCGGGCCCTG 0.668 NA 8 14 --- --- --- --- NA NA NA NA ZFHX3 463 broad.mit.edu 37 16 72822585 72822586 + Frame_Shift_Ins INS - - G rs141461385 TCGA-HD-7753-01A-11D-2078-08 TCGA-HD-7753-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7dc33525-6f57-4b12-9b72-c9c845296ae3 0ca58135-303a-4e85-896e-7f7c75481e42 g.chr16:72822585_72822586insG uc002fck.2 - 10 10262_10263 c.9589_9590insC c.(9589-9591)CAGfs p.Q3197fs ZFHX3_uc002fcl.2_Frame_Shift_Ins_p.Q2283fs NM_006885 NP_008816 Q15911 ZFHX3_HUMAN zinc finger homeobox 3 isoform A 3197 Poly-Gln. muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation transcription factor complex enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding ovary(2)|skin(2) 4 Ovarian(137;0.13) ctgctgctgctgGGGGGGTTGC 0.53 NA 23 118 --- --- --- --- NA NA NA NA TP53 7157 broad.mit.edu 37 17 7577115 7577116 + In_Frame_Ins INS - - AAC TCGA-HD-7753-01A-11D-2078-08 TCGA-HD-7753-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7dc33525-6f57-4b12-9b72-c9c845296ae3 0ca58135-303a-4e85-896e-7f7c75481e42 g.chr17:7577115_7577116insAAC uc002gim.2 - 8 1016_1017 c.822_823insGTT c.(820-825)insGTT p.274_275insV TP53_uc002gig.1_Intron|TP53_uc002gih.2_In_Frame_Ins_p.274_275insV|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_In_Frame_Ins_p.142_143insV|TP53_uc010cng.1_In_Frame_Ins_p.142_143insV|TP53_uc002gii.1_In_Frame_Ins_p.142_143insV|TP53_uc010cnh.1_In_Frame_Ins_p.274_275insV|TP53_uc010cni.1_In_Frame_Ins_p.274_275insV|TP53_uc002gij.2_In_Frame_Ins_p.274_275insV NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 274_275 Interaction with DNA.||Interaction with E4F1.|Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity). C -> S (in sporadic cancers; somatic mutation).|C -> G (in sporadic cancers; somatic mutation).|C -> F (in sporadic cancers; somatic mutation).|C -> W (in sporadic cancers; somatic mutation).|C -> Y (in LFS; germline mutation and in sporadic cancers; somatic mutation).|C -> R (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.V274F(17)|p.V274A(13)|p.V274L(9)|p.C275G(7)|p.V274D(7)|p.0?(7)|p.C275R(6)|p.V274G(6)|p.V274I(4)|p.V274V(3)|p.C275fs*31(2)|p.?(2)|p.V274fs*71(1)|p.R273_C275delRVC(1)|p.V274_P278del(1)|p.C275fs*70(1)|p.F270_D281del12(1)|p.C275_R283delCACPGRDRR(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.C275fs*67(1)|p.V272_K292del21(1)|p.C275fs*20(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) GGACAGGCACAAACACGCACCT 0.55 111 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) 14 19 --- --- --- --- NA NA NA NA CD28 940 broad.mit.edu 37 2 204591669 204591669 + Frame_Shift_Del DEL C C - TCGA-HD-7753-01A-11D-2078-08 TCGA-HD-7753-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7dc33525-6f57-4b12-9b72-c9c845296ae3 0ca58135-303a-4e85-896e-7f7c75481e42 g.chr2:204591669delC uc002vah.3 + 2 588 c.366delC c.(364-366)TACfs p.Y122fs CD28_uc002vag.1_Intron|CD28_uc010zio.1_Intron|CD28_uc010ftx.2_Intron|CD28_uc002vaj.3_Intron NM_006139 NP_006130 P10747 CD28_HUMAN CD28 antigen precursor 122 Extracellular (Potential).|Ig-like V-type. cell surface receptor linked signaling pathway|cytokine biosynthetic process|humoral immune response|positive regulation of anti-apoptosis|positive regulation of interleukin-2 biosynthetic process|positive regulation of mitosis|positive regulation of translation|positive regulation of viral genome replication|regulation of defense response to virus by virus|regulatory T cell differentiation|T cell costimulation|viral reproduction cytosol|external side of plasma membrane|integral to plasma membrane coreceptor activity|protease binding|SH3/SH2 adaptor activity 0 CTCCTCCTTACCTAGACAATG 0.368 NA 16 28 --- --- --- --- NA NA NA NA MFSD7 84179 broad.mit.edu 37 4 678633 678634 + Frame_Shift_Ins INS - - A TCGA-HD-7753-01A-11D-2078-08 TCGA-HD-7753-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7dc33525-6f57-4b12-9b72-c9c845296ae3 0ca58135-303a-4e85-896e-7f7c75481e42 g.chr4:678633_678634insA uc003gay.2 - 5 654_655 c.597_598insT c.(595-600)TATACCfs p.Y199fs MFSD7_uc003gaw.2_5'UTR|MFSD7_uc003gax.2_Frame_Shift_Ins_p.Y199fs|MFSD7_uc003gaz.2_Frame_Shift_Ins_p.Y80fs|MFSD7_uc003gba.2_Frame_Shift_Ins_p.Y102fs|MFSD7_uc003gbb.1_Frame_Shift_Ins_p.Y135fs NM_032219 NP_115595 Q6UXD7 MFSD7_HUMAN major facilitator superfamily domain containing 199_200 Helical; (Potential). transmembrane transport integral to membrane 0 GCAGGGATGGTATAGACACCGA 0.683 NA 6 11 --- --- --- --- NA NA NA NA PDZD2 23037 broad.mit.edu 37 5 32098603 32098604 + Frame_Shift_Ins INS - - ACAA TCGA-HD-7753-01A-11D-2078-08 TCGA-HD-7753-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7dc33525-6f57-4b12-9b72-c9c845296ae3 0ca58135-303a-4e85-896e-7f7c75481e42 g.chr5:32098603_32098604insACAA uc003jhl.2 + 23 8469_8470 c.8081_8082insACAA c.(8080-8082)GCAfs p.A2694fs PDZD2_uc003jhm.2_Frame_Shift_Ins_p.A2694fs|PDZD2_uc003jhn.2_5'Flank NM_178140 NP_835260 O15018 PDZD2_HUMAN PDZ domain containing 2 2694 PDZ 5. cell adhesion cell-cell junction|endoplasmic reticulum|extracellular region|nucleus central_nervous_system(4)|ovary(2)|skin(2)|large_intestine(1) 9 CTGCACCAGGCACAGCTGCACA 0.594 NA 19 32 --- --- --- --- NA NA NA NA CAPN11 11131 broad.mit.edu 37 6 44148689 44148702 + Frame_Shift_Del DEL GGGCTTTGGCCTGG GGGCTTTGGCCTGG - TCGA-HD-7753-01A-11D-2078-08 TCGA-HD-7753-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7dc33525-6f57-4b12-9b72-c9c845296ae3 0ca58135-303a-4e85-896e-7f7c75481e42 g.chr6:44148689_44148702delGGGCTTTGGCCTGG uc003owt.1 + 18 1862_1875 c.1824_1837delGGGCTTTGGCCTGG c.(1822-1839)AAGGGCTTTGGCCTGGATfs p.K608fs CAPN11_uc011dvn.1_Frame_Shift_Del_p.K262fs NM_007058 NP_008989 Q9UMQ6 CAN11_HUMAN calpain 11 608_613 EF-hand 1.|Domain IV. proteolysis acrosomal vesicle calcium ion binding|calcium-dependent cysteine-type endopeptidase activity ovary(1)|breast(1) 2 all_cancers(18;3.19e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273) Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536) TCAAGACCAAGGGCTTTGGCCTGGATGCTTGCCG 0.57 NA 36 209 --- --- --- --- NA NA NA NA CSMD3 114788 broad.mit.edu 37 8 113569097 113569119 + Frame_Shift_Del DEL TGGTGCTACCAGCAAAGTGGCCT TGGTGCTACCAGCAAAGTGGCCT - rs143731892 byFrequency TCGA-HD-7753-01A-11D-2078-08 TCGA-HD-7753-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7dc33525-6f57-4b12-9b72-c9c845296ae3 0ca58135-303a-4e85-896e-7f7c75481e42 g.chr8:113569097_113569119delTGGTGCTACCAGCAAAGTGGCCT uc003ynu.2 - 25 4266_4288 c.4107_4129delAGGCCACTTTGCTGGTAGCACCA c.(4105-4131)CAAGGCCACTTTGCTGGTAGCACCATCfs p.Q1369fs CSMD3_uc003yns.2_Frame_Shift_Del_p.Q641fs|CSMD3_uc003ynt.2_Frame_Shift_Del_p.Q1329fs|CSMD3_uc011lhx.1_Frame_Shift_Del_p.Q1265fs NM_198123 NP_937756 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 isoform 1 1369_1377 Extracellular (Potential).|Sushi 7. 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 CCATAAATGATGGTGCTACCAGCAAAGTGGCCTTGGTCACTGA 0.453 NA HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 7 36 --- --- --- --- NA NA NA NA