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 C1orf187 374946 broad.mit.edu 37 1 11766452 11766452 + Missense_Mutation SNP G G A TCGA-CN-5367-01A-01D-1434-08 TCGA-CN-5367-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 57adb398-48c5-4a14-a43e-f79a19befbda 3c6ca4c1-7112-4c0c-9d21-b00717fcd4de g.chr1:11766452G>A uc001asr.1 + 2 277 c.137G>A c.(136-138)GGC>GAC p.G46D NM_198545 NP_940947 Q8NBI3 DRAXI_HUMAN chromosome 1 open reading frame 187 precursor 46 axon guidance|commissural neuron differentiation in spinal cord|dorsal spinal cord development|forebrain development|negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway extracellular region 0 Ovarian(185;0.249) Lung NSC(185;4.15e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00826)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.48e-06)|COAD - Colon adenocarcinoma(227;0.000283)|BRCA - Breast invasive adenocarcinoma(304;0.000316)|Kidney(185;0.000841)|KIRC - Kidney renal clear cell carcinoma(229;0.00269)|STAD - Stomach adenocarcinoma(313;0.00754)|READ - Rectum adenocarcinoma(331;0.0651) GACCTCCCAGGCCCAGCGCTG 0.716 NA 9 27 0 0 0 0 EFHD2 79180 broad.mit.edu 37 1 15752368 15752368 + Missense_Mutation SNP T T G TCGA-CN-5367-01A-01D-1434-08 TCGA-CN-5367-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 57adb398-48c5-4a14-a43e-f79a19befbda 3c6ca4c1-7112-4c0c-9d21-b00717fcd4de g.chr1:15752368T>G uc001awh.2 + 2 387 c.310T>G c.(310-312)TAT>GAT p.Y104D NM_024329 NP_077305 Q96C19 EFHD2_HUMAN EF-hand domain family, member D2 104 EF-hand 1. membrane raft 0 Renal(390;0.00145)|Breast(348;0.00173)|Colorectal(325;0.00215)|all_lung(284;0.00366)|Lung NSC(340;0.00395)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)|Hepatocellular(190;0.152) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.59e-07)|COAD - Colon adenocarcinoma(227;3.79e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000119)|KIRC - Kidney renal clear cell carcinoma(229;0.00251)|STAD - Stomach adenocarcinoma(313;0.00727)|READ - Rectum adenocarcinoma(331;0.0649) CATCTGCAGGTATGATGCCGG 0.557 NA 10 96 0 0 0 0 EIF2C4 192670 broad.mit.edu 37 1 36316594 36316594 + Missense_Mutation SNP A A G TCGA-CN-5367-01A-01D-1434-08 TCGA-CN-5367-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 57adb398-48c5-4a14-a43e-f79a19befbda 3c6ca4c1-7112-4c0c-9d21-b00717fcd4de g.chr1:36316594A>G uc001bzj.1 + 17 2607 c.2417A>G c.(2416-2418)TAT>TGT p.Y806C NM_017629 NP_060099 Q9HCK5 AGO4_HUMAN eukaryotic translation initiation factor 2C, 4 806 Piwi. mRNA catabolic process|negative regulation of translation involved in gene silencing by miRNA cytoplasmic mRNA processing body|cytosol protein binding|RNA binding ovary(1) 1 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887) GCCCCTGCATATTATGCCCGG 0.453 NA 4 33 0 0 0 0 COL8A2 1296 broad.mit.edu 37 1 36564363 36564363 + Missense_Mutation SNP G G A rs372280 TCGA-CN-5367-01A-01D-1434-08 TCGA-CN-5367-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 57adb398-48c5-4a14-a43e-f79a19befbda 3c6ca4c1-7112-4c0c-9d21-b00717fcd4de g.chr1:36564363G>A uc001bzv.1 - 2 926 c.919C>T c.(919-921)CCT>TCT p.P307S COL8A2_uc001bzw.1_Missense_Mutation_p.P242S NM_005202 NP_005193 P25067 CO8A2_HUMAN collagen, type VIII, alpha 2 precursor 307 Triple-helical region. angiogenesis|cell-cell adhesion|extracellular matrix organization basement membrane|collagen extracellular matrix structural constituent|protein binding, bridging central_nervous_system(1) 1 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164) ATCAGCCCAGGGGGGCCCCGG 0.706 NA 25 32 0 0 0 0 GLMN 11146 broad.mit.edu 37 1 92752126 92752126 + Missense_Mutation SNP G G T TCGA-CN-5367-01A-01D-1434-08 TCGA-CN-5367-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 57adb398-48c5-4a14-a43e-f79a19befbda 3c6ca4c1-7112-4c0c-9d21-b00717fcd4de g.chr1:92752126G>T uc001dor.2 - 7 771 c.656C>A c.(655-657)CCT>CAT p.P219H GLMN_uc009wdg.2_RNA|GLMN_uc001dos.2_Missense_Mutation_p.P219H NM_053274 NP_444504 Q92990 GLMN_HUMAN glomulin 219 P->A: Loss of interaction with FKBP12 and FKBP59. muscle cell differentiation|negative regulation of T cell proliferation|positive regulation of cytokine secretion|positive regulation of interleukin-2 biosynthetic process|positive regulation of phosphorylation|regulation of gene expression, epigenetic|vasculogenesis intracellular hepatocyte growth factor receptor binding skin(1) 1 all_lung(203;0.00827)|Lung NSC(277;0.0295) all cancers(265;0.00702)|GBM - Glioblastoma multiforme(16;0.0381)|Epithelial(280;0.0989) TGTCAGCAAAGGGCATTTCAA 0.333 NA Multiple_Glomus_Tumors_(of_the_Skin)_Familial 4 86 0.00024832 0.000271861 1 0 ITGA10 8515 broad.mit.edu 37 1 145535818 145535818 + Missense_Mutation SNP G G A TCGA-CN-5367-01A-01D-1434-08 TCGA-CN-5367-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 57adb398-48c5-4a14-a43e-f79a19befbda 3c6ca4c1-7112-4c0c-9d21-b00717fcd4de g.chr1:145535818G>A uc001eoa.2 + 16 2082 c.2006G>A c.(2005-2007)CGA>CAA p.R669Q NBPF10_uc001emp.3_Intron|ITGA10_uc010oyv.1_Missense_Mutation_p.R538Q|ITGA10_uc009wiw.2_Missense_Mutation_p.R526Q|ITGA10_uc010oyw.1_Missense_Mutation_p.R614Q NM_003637 NP_003628 O75578 ITA10_HUMAN integrin, alpha 10 precursor 669 Extracellular (Potential). cell-matrix adhesion|integrin-mediated signaling pathway integrin complex collagen binding|receptor activity lung(2)|ovary(2)|kidney(2)|large_intestine(1)|skin(1) 8 all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786) TGTAGGCGGCGAGGCCAAGAG 0.577 NA 25 139 0 0 0 0 HRNR 388697 broad.mit.edu 37 1 152193084 152193084 + Missense_Mutation SNP C C G TCGA-CN-5367-01A-01D-1434-08 TCGA-CN-5367-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 57adb398-48c5-4a14-a43e-f79a19befbda 3c6ca4c1-7112-4c0c-9d21-b00717fcd4de g.chr1:152193084C>G uc001ezt.1 - 3 1097 c.1021G>C c.(1021-1023)GGC>CGC p.G341R NM_001009931 NP_001009931 Q86YZ3 HORN_HUMAN hornerin 341 3 keratinization calcium ion binding|protein binding skin(2)|ovary(1) 3 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) TGGCCTGAGCCAGACTCATAA 0.577 NA 11 124 0 0 0 0 PEAR1 375033 broad.mit.edu 37 1 156876577 156876577 + Nonsense_Mutation SNP T T A TCGA-CN-5367-01A-01D-1434-08 TCGA-CN-5367-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 57adb398-48c5-4a14-a43e-f79a19befbda 3c6ca4c1-7112-4c0c-9d21-b00717fcd4de g.chr1:156876577T>A uc001fqj.1 + 6 665 c.549T>A c.(547-549)TAT>TAA p.Y183* PEAR1_uc009wsl.1_Intron|PEAR1_uc001fqk.1_5'UTR NM_001080471 NP_001073940 Q5VY43 PEAR1_HUMAN platelet endothelial aggregation receptor 1 183 integral to membrane ovary(2)|central_nervous_system(1) 3 all_hematologic(923;0.0839)|Hepatocellular(266;0.158) CTGGCTACTATGGCCCTGCCT 0.632 NA 7 76 0 0 0 0 KIAA1383 54627 broad.mit.edu 37 1 232942446 232942446 + Silent SNP T T C TCGA-CN-5367-01A-01D-1434-08 TCGA-CN-5367-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 57adb398-48c5-4a14-a43e-f79a19befbda 3c6ca4c1-7112-4c0c-9d21-b00717fcd4de g.chr1:232942446T>C uc001hvh.2 + 1 1809 c.1677T>C c.(1675-1677)GCT>GCC p.A559A NM_019090 NP_061963 Q9P2G4 K1383_HUMAN hypothetical protein LOC54627 417 ovary(1) 1 all_cancers(173;0.00528)|Prostate(94;0.122)|all_epithelial(177;0.169) CAAGTCCTGCTCATATACATC 0.413 NA 3 77 0 0 0 0 CUBN 8029 broad.mit.edu 37 10 17061945 17061945 + Missense_Mutation SNP C C T TCGA-CN-5367-01A-01D-1434-08 TCGA-CN-5367-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 57adb398-48c5-4a14-a43e-f79a19befbda 3c6ca4c1-7112-4c0c-9d21-b00717fcd4de g.chr10:17061945C>T uc001ioo.2 - 28 4107 c.4055G>A c.(4054-4056)GGA>GAA p.G1352E NM_001081 NP_001072 O60494 CUBN_HUMAN cubilin precursor 1352 CUB 8. cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity ovary(9)|breast(4)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)|kidney(1) 19 Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200) CAGGTCTACTCCACAGTAGCG 0.493 NA 14 59 0 0 0 0 WAPAL 23063 broad.mit.edu 37 10 88227232 88227232 + Missense_Mutation SNP T T C TCGA-CN-5367-01A-01D-1434-08 TCGA-CN-5367-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 57adb398-48c5-4a14-a43e-f79a19befbda 3c6ca4c1-7112-4c0c-9d21-b00717fcd4de g.chr10:88227232T>C uc001kdo.2 - 9 2616 c.2174A>G c.(2173-2175)TAT>TGT p.Y725C WAPAL_uc009xsv.2_Missense_Mutation_p.Y39C|WAPAL_uc001kdn.2_Missense_Mutation_p.Y762C|WAPAL_uc009xsw.2_Missense_Mutation_p.Y719C NM_015045 NP_055860 Q7Z5K2 WAPL_HUMAN wings apart-like homolog 725 WAPL. cell division|interspecies interaction between organisms|mitosis|negative regulation of chromatin binding|negative regulation of DNA replication|negative regulation of sister chromatid cohesion|protein localization to chromatin|regulation of cohesin localization to chromatin chromatin|cohesin complex|cytoplasm protein binding ovary(1) 1 ACTCAGTATATACATGAGGGC 0.388 NA 14 49 0 0 0 0 CEP55 55165 broad.mit.edu 37 10 95287808 95287808 + Silent SNP T T C TCGA-CN-5367-01A-01D-1434-08 TCGA-CN-5367-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 57adb398-48c5-4a14-a43e-f79a19befbda 3c6ca4c1-7112-4c0c-9d21-b00717fcd4de g.chr10:95287808T>C uc009xug.2 + 9 1475 c.1293T>C c.(1291-1293)GCT>GCC p.A431A CEP55_uc001kiq.3_Silent_p.A431A NM_001127182 NP_001120654 Q53EZ4 CEP55_HUMAN centrosomal protein 55kDa 431 Required for localization to the interphase centrosome and to the midbody during cytokinesis. cell division|mitosis centriole|cleavage furrow|midbody 0 Colorectal(252;0.207) GTCCCACTGCTGCACTCAATG 0.463 NA 23 64 0 0 0 0 MUC5B 727897 broad.mit.edu 37 11 1274140 1274140 + Missense_Mutation SNP C C G TCGA-CN-5367-01A-01D-1434-08 TCGA-CN-5367-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 57adb398-48c5-4a14-a43e-f79a19befbda 3c6ca4c1-7112-4c0c-9d21-b00717fcd4de g.chr11:1274140C>G uc009ycr.1 + 54 16239 c.16113C>G c.(16111-16113)TGC>TGG p.C5371W MUC5B_uc001ltb.2_Missense_Mutation_p.C5052W NM_017511 NP_059981 Q9HC84 MUC5B_HUMAN SubName: Full=Mucin 5AC, oligomeric mucus/gel-forming; 5049 cell adhesion extracellular region extracellular matrix structural constituent|protein binding 0 all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1) ACGTCACCTGCGTGAACAAGC 0.617 NA 6 33 0 0 0 0 OR10A3 26496 broad.mit.edu 37 11 7960501 7960501 + Silent SNP A A G TCGA-CN-5367-01A-01D-1434-08 TCGA-CN-5367-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 57adb398-48c5-4a14-a43e-f79a19befbda 3c6ca4c1-7112-4c0c-9d21-b00717fcd4de g.chr11:7960501A>G uc010rbi.1 - 1 567 c.567T>C c.(565-567)TGT>TGC p.C189C NM_001003745 NP_001003745 P58181 O10A3_HUMAN olfactory receptor, family 10, subfamily A, 189 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity pancreas(1) 1 Epithelial(150;1.38e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189) AGGTGTCTGCACACACAAGCT 0.418 NA 5 95 0 0 0 0 PDE3B 5140 broad.mit.edu 37 11 14853185 14853185 + Splice_Site SNP G G C TCGA-CN-5367-01A-01D-1434-08 TCGA-CN-5367-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 57adb398-48c5-4a14-a43e-f79a19befbda 3c6ca4c1-7112-4c0c-9d21-b00717fcd4de g.chr11:14853185G>C uc001mln.2 + 9 2310 c.1957_splice c.e9-1 p.I653_splice PDE3B_uc010rcr.1_Splice_Site_p.I602_splice NM_000922 NP_000913 Q13370 PDE3B_HUMAN phosphodiesterase 3B cAMP catabolic process|insulin receptor signaling pathway|negative regulation of lipid catabolic process|platelet activation cytosol|endoplasmic reticulum|Golgi apparatus|guanyl-nucleotide exchange factor complex|integral to membrane|microsome 3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding|protein kinase B binding 0 TGTATGTACAGATTGAACAGG 0.279 NA 33 62 0 0 0 0 DDB1 1642 broad.mit.edu 37 11 61097015 61097015 + Silent SNP G G T TCGA-CN-5367-01A-01D-1434-08 TCGA-CN-5367-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 57adb398-48c5-4a14-a43e-f79a19befbda 3c6ca4c1-7112-4c0c-9d21-b00717fcd4de g.chr11:61097015G>T uc001nrc.3 - 4 595 c.369C>A c.(367-369)ATC>ATA p.I123I DDB1_uc010rle.1_Intron|DDB1_uc010rlf.1_Silent_p.I123I|DDB1_uc010rlg.1_5'Flank|DDB1_uc001nrd.2_Silent_p.I123I|DDB1_uc009ynl.1_Intron NM_001923 NP_001914 Q16531 DDB1_HUMAN damage-specific DNA binding protein 1 123 Interaction with CDT1. cell cycle checkpoint|interspecies interaction between organisms|nucleotide-excision repair, DNA damage removal|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination involved in ubiquitin-dependent protein catabolic process Cul4A-RING ubiquitin ligase complex|Cul4B-RING ubiquitin ligase complex|cytoplasm|nucleoplasm damaged DNA binding|protein binding ovary(2)|lung(1)|central_nervous_system(1) 4 CAGGGTCAATGATGCCAATAA 0.498 NA NER 9 14 0.000274275 0.000298451 1 0 SCYL1 57410 broad.mit.edu 37 11 65303563 65303563 + Missense_Mutation SNP C C T TCGA-CN-5367-01A-01D-1434-08 TCGA-CN-5367-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 57adb398-48c5-4a14-a43e-f79a19befbda 3c6ca4c1-7112-4c0c-9d21-b00717fcd4de g.chr11:65303563C>T uc001oea.1 + 11 1603 c.1526C>T c.(1525-1527)CCT>CTT p.P509L SCYL1_uc009yqk.2_Missense_Mutation_p.P509L|SCYL1_uc001oeb.1_Missense_Mutation_p.P509L|SCYL1_uc001oec.1_Missense_Mutation_p.P509L|SCYL1_uc001oed.1_Missense_Mutation_p.P366L|SCYL1_uc001oee.1_Missense_Mutation_p.P153L NM_020680 NP_065731 Q96KG9 NTKL_HUMAN SCY1-like 1 isoform A 509 HEAT 3. regulation of transcription, DNA-dependent|retrograde vesicle-mediated transport, Golgi to ER|transcription, DNA-dependent cis-Golgi network|COPI vesicle coat|ER-Golgi intermediate compartment|microtubule organizing center|nucleus ATP binding|DNA binding|protein tyrosine kinase activity skin(1) 1 AAGATCCTGCCTGTGCTCTGC 0.617 NA 39 71 0 0 0 0 TCIRG1 10312 broad.mit.edu 37 11 67811734 67811734 + Missense_Mutation SNP C C T TCGA-CN-5367-01A-01D-1434-08 TCGA-CN-5367-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 57adb398-48c5-4a14-a43e-f79a19befbda 3c6ca4c1-7112-4c0c-9d21-b00717fcd4de g.chr11:67811734C>T uc001one.2 + 9 1051 c.943C>T c.(943-945)CAC>TAC p.H315Y TCIRG1_uc001ong.2_Missense_Mutation_p.H99Y|TCIRG1_uc001onh.2_Missense_Mutation_p.H17Y|TCIRG1_uc001oni.2_5'UTR NM_006019 NP_006010 Q13488 VPP3_HUMAN T-cell, immune regulator 1 isoform a 315 Cytoplasmic (Potential). ATP hydrolysis coupled proton transport|cellular defense response|cellular iron ion homeostasis|insulin receptor signaling pathway|positive regulation of cell proliferation|transferrin transport apical plasma membrane|endosome membrane|integral to plasma membrane|proton-transporting two-sector ATPase complex, proton-transporting domain hydrogen ion transmembrane transporter activity ovary(1) 1 GAGCACCACGCACAAGTGCCT 0.687 NA 4 31 0 0 0 0 GUCY1A2 2977 broad.mit.edu 37 11 106681089 106681089 + Nonsense_Mutation SNP G G C TCGA-CN-5367-01A-01D-1434-08 TCGA-CN-5367-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 57adb398-48c5-4a14-a43e-f79a19befbda 3c6ca4c1-7112-4c0c-9d21-b00717fcd4de g.chr11:106681089G>C uc001pjg.1 - 5 1712 c.1322C>G c.(1321-1323)TCA>TGA p.S441* GUCY1A2_uc010rvo.1_Nonsense_Mutation_p.S462*|GUCY1A2_uc009yxn.1_Nonsense_Mutation_p.S441* NM_000855 NP_000846 P33402 GCYA2_HUMAN guanylate cyclase 1, soluble, alpha 2 441 intracellular signal transduction|platelet activation cytoplasm GTP binding|guanylate cyclase activity|heme binding large_intestine(3)|lung(2)|pancreas(2)|ovary(1) 8 all_epithelial(67;3.66e-05)|Melanoma(852;0.000382)|Acute lymphoblastic leukemia(157;0.001)|all_hematologic(158;0.0017)|Breast(348;0.026)|all_neural(303;0.068) BRCA - Breast invasive adenocarcinoma(274;8.04e-05)|Epithelial(105;0.0036)|all cancers(92;0.0476) AGGGATGTCTGAGAGATGTAG 0.453 NA 107 816 0 0 0 0 GUCY1A2 2977 broad.mit.edu 37 11 106681158 106681158 + Missense_Mutation SNP G G T TCGA-CN-5367-01A-01D-1434-08 TCGA-CN-5367-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 57adb398-48c5-4a14-a43e-f79a19befbda 3c6ca4c1-7112-4c0c-9d21-b00717fcd4de g.chr11:106681158G>T uc001pjg.1 - 5 1643 c.1253C>A c.(1252-1254)TCC>TAC p.S418Y GUCY1A2_uc010rvo.1_Missense_Mutation_p.S439Y|GUCY1A2_uc009yxn.1_Missense_Mutation_p.S418Y NM_000855 NP_000846 P33402 GCYA2_HUMAN guanylate cyclase 1, soluble, alpha 2 418 intracellular signal transduction|platelet activation cytoplasm GTP binding|guanylate cyclase activity|heme binding large_intestine(3)|lung(2)|pancreas(2)|ovary(1) 8 all_epithelial(67;3.66e-05)|Melanoma(852;0.000382)|Acute lymphoblastic leukemia(157;0.001)|all_hematologic(158;0.0017)|Breast(348;0.026)|all_neural(303;0.068) BRCA - Breast invasive adenocarcinoma(274;8.04e-05)|Epithelial(105;0.0036)|all cancers(92;0.0476) AAATAAAATGGAATTTGATTC 0.423 NA 89 861 7.49e-41 8.76e-41 1 0 FXYD2 486 broad.mit.edu 37 11 117695379 117695379 + Silent SNP C C T TCGA-CN-5367-01A-01D-1434-08 TCGA-CN-5367-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 57adb398-48c5-4a14-a43e-f79a19befbda 3c6ca4c1-7112-4c0c-9d21-b00717fcd4de g.chr11:117695379C>T uc001prj.2 - 1 81 c.15G>A c.(13-15)TCG>TCA p.S5S FXYD2_uc001prl.2_Silent_p.S5S|FXYD2_uc001prk.1_Intron NM_001680 NP_001671 P54710 ATNG_HUMAN FXYD domain-containing ion transport regulator 2 5 sodium:potassium-exchanging ATPase complex ion channel activity|sodium:potassium-exchanging ATPase activity 0 all_hematologic(175;0.0487) Medulloblastoma(222;0.0425)|Breast(348;0.111)|all_hematologic(192;0.196)|all_neural(223;0.234) BRCA - Breast invasive adenocarcinoma(274;2.83e-05)|Epithelial(105;0.00114) Cyclothiazide(DB00606) CACCGTCCATCGACAACCCAG 0.612 NA 10 24 0 0 0 0 VWF 7450 broad.mit.edu 37 12 6094236 6094236 + Missense_Mutation SNP G G C TCGA-CN-5367-01A-01D-1434-08 TCGA-CN-5367-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 57adb398-48c5-4a14-a43e-f79a19befbda 3c6ca4c1-7112-4c0c-9d21-b00717fcd4de g.chr12:6094236G>C uc001qnn.1 - 40 7201 c.6951C>G c.(6949-6951)GAC>GAG p.D2317E VWF_uc010set.1_Intron NM_000552 NP_000543 P04275 VWF_HUMAN von Willebrand factor preproprotein 2317 VWFC 1. blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding skin(4)|ovary(3)|pancreas(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|breast(1) 12 Antihemophilic Factor(DB00025) GGCAGCACTGGTCTGCATTCT 0.597 NA 24 101 0 0 0 0 MANSC1 54682 broad.mit.edu 37 12 12496065 12496065 + Missense_Mutation SNP C C G TCGA-CN-5367-01A-01D-1434-08 TCGA-CN-5367-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 57adb398-48c5-4a14-a43e-f79a19befbda 3c6ca4c1-7112-4c0c-9d21-b00717fcd4de g.chr12:12496065C>G uc001rai.1 - 2 442 c.184G>C c.(184-186)GAC>CAC p.D62H MANSC1_uc001raj.1_Missense_Mutation_p.D28H|MANSC1_uc009zht.1_Intron NM_018050 NP_060520 Q9H8J5 MANS1_HUMAN MANSC domain containing 1 precursor 62 MANSC.|Extracellular (Potential). integral to membrane 0 Prostate(47;0.0865) BRCA - Breast invasive adenocarcinoma(232;0.185) TTAATGCAGTCTTCTTGAGTT 0.403 NA 4 171 0 0 0 0 PTPRO 5800 broad.mit.edu 37 12 15668508 15668508 + Missense_Mutation SNP G G A TCGA-CN-5367-01A-01D-1434-08 TCGA-CN-5367-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 57adb398-48c5-4a14-a43e-f79a19befbda 3c6ca4c1-7112-4c0c-9d21-b00717fcd4de g.chr12:15668508G>A uc001rcv.1 + 8 1715 c.1541G>A c.(1540-1542)GGC>GAC p.G514D PTPRO_uc001rcw.1_Missense_Mutation_p.G514D|PTPRO_uc001rcu.1_Missense_Mutation_p.G514D NM_030667 NP_109592 Q16827 PTPRO_HUMAN receptor-type protein tyrosine phosphatase O 514 Extracellular (Potential). integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity skin(5)|ovary(2)|upper_aerodigestive_tract(1)|lung(1) 9 Hepatocellular(102;0.244) CTAAGGAAAGGCCCTTTGATT 0.413 NA 31 104 0 0 0 0 SMUG1 23583 broad.mit.edu 37 12 54576179 54576179 + Missense_Mutation SNP G G A TCGA-CN-5367-01A-01D-1434-08 TCGA-CN-5367-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 57adb398-48c5-4a14-a43e-f79a19befbda 3c6ca4c1-7112-4c0c-9d21-b00717fcd4de g.chr12:54576179G>A uc001sff.1 - 4 643 c.514C>T c.(514-516)CCC>TCC p.P172S SMUG1_uc001sfa.1_5'Flank|SMUG1_uc001sfe.1_3'UTR|SMUG1_uc001sfg.1_Missense_Mutation_p.P172S|SMUG1_uc009znf.1_Missense_Mutation_p.P172S|SMUG1_uc001sfb.3_Intron|SMUG1_uc001sfc.3_Intron|SMUG1_uc001sfd.3_Intron NM_014311 NP_055126 Q53HV7 SMUG1_HUMAN single-strand-selective monofunctional 172 Missing (in Ref. 3; BAC03670). depyrimidination nucleolus|nucleoplasm DNA binding|protein binding|single-strand selective uracil DNA N-glycosylase activity 0 CGCCCGCTGGGAGCCAGGAAA 0.577 NA BER_DNA_glycosylases 6 122 0 0 0 0 KERA 11081 broad.mit.edu 37 12 91449227 91449227 + Missense_Mutation SNP G G T TCGA-CN-5367-01A-01D-1434-08 TCGA-CN-5367-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 57adb398-48c5-4a14-a43e-f79a19befbda 3c6ca4c1-7112-4c0c-9d21-b00717fcd4de g.chr12:91449227G>T uc001tbl.2 - 2 1451 c.832C>A c.(832-834)CCC>ACC p.P278T NM_007035 NP_008966 O60938 KERA_HUMAN keratocan precursor 278 LRR 9. response to stimulus|visual perception proteinaceous extracellular matrix skin(1) 1 CTGATTCGGGGAACCTTTGTG 0.408 NA 33 104 1.04e-10 1.19e-10 1 0 ZMYM2 7750 broad.mit.edu 37 13 20641120 20641120 + Missense_Mutation SNP C C G TCGA-CN-5367-01A-01D-1434-08 TCGA-CN-5367-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 57adb398-48c5-4a14-a43e-f79a19befbda 3c6ca4c1-7112-4c0c-9d21-b00717fcd4de g.chr13:20641120C>G uc001umr.2 + 21 3560 c.3262C>G c.(3262-3264)CTT>GTT p.L1088V ZMYM2_uc001ums.2_Missense_Mutation_p.L1088V|ZMYM2_uc001umt.2_Missense_Mutation_p.L1088V|ZMYM2_uc001umv.2_Missense_Mutation_p.L468V|ZMYM2_uc001umw.2_Missense_Mutation_p.L541V NM_003453 NP_003444 Q9UBW7 ZMYM2_HUMAN zinc finger protein 198 1088 regulation of transcription, DNA-dependent|transcription, DNA-dependent PML body ubiquitin conjugating enzyme binding|zinc ion binding lung(3)|ovary(2)|prostate(1) 6 all_cancers(29;8.65e-21)|all_epithelial(30;1.04e-18)|all_lung(29;6.75e-18)|Lung SC(185;0.0262)|Ovarian(182;0.162) all cancers(112;0.000148)|Epithelial(112;0.000249)|OV - Ovarian serous cystadenocarcinoma(117;0.00816)|Lung(94;0.0173)|LUSC - Lung squamous cell carcinoma(192;0.0856) AACTAGGCAACTTGATGAAGA 0.338 NA 5 66 0 0 0 0 PCDH9 5101 broad.mit.edu 37 13 67800747 67800747 + Missense_Mutation SNP A A G TCGA-CN-5367-01A-01D-1434-08 TCGA-CN-5367-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 57adb398-48c5-4a14-a43e-f79a19befbda 3c6ca4c1-7112-4c0c-9d21-b00717fcd4de g.chr13:67800747A>G uc001vik.2 - 2 2518 c.1826T>C c.(1825-1827)CTT>CCT p.L609P PCDH9_uc001vil.2_Missense_Mutation_p.L609P|PCDH9_uc010thl.1_Missense_Mutation_p.L609P|PCDH9_uc001vin.3_Missense_Mutation_p.L609P NM_203487 NP_982354 Q9HC56 PCDH9_HUMAN protocadherin 9 isoform 1 precursor 609 Extracellular (Potential).|Cadherin 6. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(4)|pancreas(1)|skin(1) 6 Hepatocellular(98;0.0906)|Breast(118;0.107) GBM - Glioblastoma multiforme(99;0.00819) TAGAATGGAAAGAGTCACAGC 0.383 NA 13 147 0 0 0 0 ATP11A 23250 broad.mit.edu 37 13 113460594 113460594 + Missense_Mutation SNP C C T TCGA-CN-5367-01A-01D-1434-08 TCGA-CN-5367-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 57adb398-48c5-4a14-a43e-f79a19befbda 3c6ca4c1-7112-4c0c-9d21-b00717fcd4de g.chr13:113460594C>T uc001vsi.3 + 4 408 c.320C>T c.(319-321)ACG>ATG p.T107M ATP11A_uc001vsj.3_Missense_Mutation_p.T107M|ATP11A_uc001vsm.1_Translation_Start_Site NM_015205 NP_056020 P98196 AT11A_HUMAN ATPase, class VI, type 11A isoform a 107 Helical; (Potential). ATP biosynthetic process integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity large_intestine(2)|ovary(2) 4 all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163) all_lung(25;0.134)|all_epithelial(44;0.141) ATTACTGTGACGGCTATCAAA 0.398 NA 32 138 0 0 0 0 FAM71D 161142 broad.mit.edu 37 14 67671509 67671509 + Silent SNP G G A TCGA-CN-5367-01A-01D-1434-08 TCGA-CN-5367-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 57adb398-48c5-4a14-a43e-f79a19befbda 3c6ca4c1-7112-4c0c-9d21-b00717fcd4de g.chr14:67671509G>A uc001xja.1 + 5 869 c.615G>A c.(613-615)GTG>GTA p.V205V FAM71D_uc010aqn.1_RNA NM_173526 NP_775797 Q8N9W8 FA71D_HUMAN hypothetical protein LOC161142 205 ovary(1) 1 all_hematologic(31;0.0116) all cancers(60;0.00107)|BRCA - Breast invasive adenocarcinoma(234;0.00993)|OV - Ovarian serous cystadenocarcinoma(108;0.012) CCATGGATGTGACGGATGTCA 0.493 NA 34 145 0 0 0 0 PCNX 22990 broad.mit.edu 37 14 71444274 71444274 + Nonsense_Mutation SNP C C G TCGA-CN-5367-01A-01D-1434-08 TCGA-CN-5367-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 57adb398-48c5-4a14-a43e-f79a19befbda 3c6ca4c1-7112-4c0c-9d21-b00717fcd4de g.chr14:71444274C>G uc001xmo.2 + 6 1666 c.1220C>G c.(1219-1221)TCA>TGA p.S407* PCNX_uc001xmn.3_Nonsense_Mutation_p.S407*|PCNX_uc010are.1_Nonsense_Mutation_p.S407* NM_014982 NP_055797 Q96RV3 PCX1_HUMAN pecanex-like 1 407 integral to membrane ovary(1) 1 KIRC - Kidney renal clear cell carcinoma(12;0.206) all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417) CAGACCAGCTCAACTCACATA 0.512 NA 4 135 0 0 0 0 CLMN 79789 broad.mit.edu 37 14 95670064 95670064 + Missense_Mutation SNP T T A TCGA-CN-5367-01A-01D-1434-08 TCGA-CN-5367-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 57adb398-48c5-4a14-a43e-f79a19befbda 3c6ca4c1-7112-4c0c-9d21-b00717fcd4de g.chr14:95670064T>A uc001yef.2 - 9 1738 c.1622A>T c.(1621-1623)AAG>ATG p.K541M NM_024734 NP_079010 Q96JQ2 CLMN_HUMAN calmin 541 integral to membrane actin binding 0 Epithelial(152;0.193) CAGGTTAACCTTGATCTGGAA 0.433 NA 12 156 0 0 0 0 HSP90AA1 3320 broad.mit.edu 37 14 102548742 102548742 + Missense_Mutation SNP T T C TCGA-CN-5367-01A-01D-1434-08 TCGA-CN-5367-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 57adb398-48c5-4a14-a43e-f79a19befbda 3c6ca4c1-7112-4c0c-9d21-b00717fcd4de g.chr14:102548742T>C uc001yku.3 - 10 1985 c.1795A>G c.(1795-1797)ATT>GTT p.I599V HSP90AA1_uc001ykv.3_Missense_Mutation_p.I721V NM_005348 NP_005339 P07900 HS90A_HUMAN heat shock 90kDa protein 1, alpha isoform 2 599 axon guidance|cellular chaperone-mediated protein complex assembly|G2/M transition of mitotic cell cycle|nitric oxide metabolic process|positive regulation of nitric oxide biosynthetic process|protein import into mitochondrial outer membrane|protein refolding|regulation of nitric-oxide synthase activity|response to unfolded protein|signal transduction cytosol|melanosome|plasma membrane ATP binding|ATPase activity|nitric-oxide synthase regulator activity|protein homodimerization activity|TPR domain binding|unfolded protein binding ovary(2)|central_nervous_system(2)|prostate(1)|lung(1)|breast(1) 7 Rifabutin(DB00615) CTTGTGACAATACAGCATGGA 0.408 NA 14 89 0 0 0 0 GPR176 11245 broad.mit.edu 37 15 40093986 40093986 + Missense_Mutation SNP C C T rs139843045 byFrequency TCGA-CN-5367-01A-01D-1434-08 TCGA-CN-5367-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 57adb398-48c5-4a14-a43e-f79a19befbda 3c6ca4c1-7112-4c0c-9d21-b00717fcd4de g.chr15:40093986C>T uc001zkj.1 - 3 1761 c.895G>A c.(895-897)GTC>ATC p.V299I GPR176_uc010uck.1_Missense_Mutation_p.V239I NM_007223 NP_009154 Q14439 GP176_HUMAN G protein-coupled receptor 176 299 Extracellular (Potential). synaptic transmission integral to plasma membrane G-protein coupled receptor activity ovary(2)|skin(2)|pancreas(1)|central_nervous_system(1) 6 all_cancers(109;4.05e-15)|all_epithelial(112;2.96e-13)|Lung NSC(122;8.53e-11)|all_lung(180;2.71e-09)|Melanoma(134;0.091)|Colorectal(260;0.198)|Ovarian(310;0.243) GBM - Glioblastoma multiforme(113;4.4e-06)|BRCA - Breast invasive adenocarcinoma(123;0.123) AGCAAGAAGACGGAAGTGTCA 0.532 NA OREG0023053 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 8 56 0 0 0 0 C15orf33 196951 broad.mit.edu 37 15 49663515 49663515 + Nonsense_Mutation SNP G G C TCGA-CN-5367-01A-01D-1434-08 TCGA-CN-5367-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 57adb398-48c5-4a14-a43e-f79a19befbda 3c6ca4c1-7112-4c0c-9d21-b00717fcd4de g.chr15:49663515G>C uc001zxl.2 - 12 1388 c.1094C>G c.(1093-1095)TCA>TGA p.S365* NM_152647 NP_689860 Q96M60 CO033_HUMAN hypothetical protein LOC196951 365 ovary(1) 1 all_lung(180;0.00187) all cancers(107;3.45e-08)|GBM - Glioblastoma multiforme(94;0.000124) TGCTAGTCTTGATAATCTTGA 0.299 NA 6 210 0 0 0 0 HERC1 8925 broad.mit.edu 37 15 64067317 64067317 + Nonsense_Mutation SNP A A C TCGA-CN-5367-01A-01D-1434-08 TCGA-CN-5367-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 57adb398-48c5-4a14-a43e-f79a19befbda 3c6ca4c1-7112-4c0c-9d21-b00717fcd4de g.chr15:64067317A>C uc002amp.2 - 2 654 c.506T>G c.(505-507)TTA>TGA p.L169* HERC1_uc010uil.1_Nonsense_Mutation_p.L169*|HERC1_uc010bgt.1_Nonsense_Mutation_p.L169*|HERC1_uc002amq.1_Nonsense_Mutation_p.L169* NM_003922 NP_003913 Q15751 HERC1_HUMAN hect domain and RCC1-like domain 1 169 protein modification process|transport cytosol|Golgi apparatus|membrane acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity ovary(6)|breast(6)|lung(5)|central_nervous_system(2) 19 AAGCGCAAATAATAAACTTAG 0.448 NA 8 378 0 0 0 0 PTPLAD1 51495 broad.mit.edu 37 15 65864618 65864618 + Missense_Mutation SNP G G A TCGA-CN-5367-01A-01D-1434-08 TCGA-CN-5367-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 57adb398-48c5-4a14-a43e-f79a19befbda 3c6ca4c1-7112-4c0c-9d21-b00717fcd4de g.chr15:65864618G>A uc002apc.2 + 10 1074 c.926G>A c.(925-927)CGA>CAA p.R309Q PTPLAD1_uc002apb.1_RNA|PTPLAD1_uc010uiw.1_Missense_Mutation_p.R254Q NM_016395 NP_057479 Q9P035 HACD3_HUMAN protein tyrosine phosphatase-like A domain 309 Lumenal (Potential). activation of JUN kinase activity|fatty acid biosynthetic process|I-kappaB kinase/NF-kappaB cascade|Rac protein signal transduction endoplasmic reticulum membrane|integral to membrane GTPase activator activity|lyase activity|protein binding 0 GAGACCGGACGATTCAGTTTC 0.318 NA 13 137 0 0 0 0 A2BP1 54715 broad.mit.edu 37 16 7568364 7568364 + Silent SNP C C T TCGA-CN-5367-01A-01D-1434-08 TCGA-CN-5367-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 57adb398-48c5-4a14-a43e-f79a19befbda 3c6ca4c1-7112-4c0c-9d21-b00717fcd4de g.chr16:7568364C>T uc002cys.2 + 5 1231 c.243C>T c.(241-243)AGC>AGT p.S81S A2BP1_uc010buf.1_Silent_p.S81S|A2BP1_uc002cyr.1_Silent_p.S81S|A2BP1_uc002cyt.2_Silent_p.S81S|A2BP1_uc010uxz.1_Silent_p.S124S|A2BP1_uc010uya.1_Silent_p.S117S|A2BP1_uc002cyv.1_Silent_p.S81S|A2BP1_uc010uyb.1_Silent_p.S81S|A2BP1_uc002cyw.2_Silent_p.S101S|A2BP1_uc002cyy.2_Silent_p.S101S|A2BP1_uc002cyx.2_Silent_p.S101S|A2BP1_uc010uyc.1_Silent_p.S101S NM_018723 NP_061193 Q9NWB1 RFOX1_HUMAN ataxin 2-binding protein 1 isoform 4 81 mRNA processing|RNA splicing|RNA transport nucleus|trans-Golgi network nucleotide binding|protein C-terminus binding|RNA binding 0 all_cancers(2;4.54e-52)|Colorectal(2;6.95e-44)|all_epithelial(2;1.15e-37)|Lung NSC(2;0.000289)|all_lung(2;0.00148)|Myeloproliferative disorder(2;0.0122)|Medulloblastoma(2;0.0354)|all_neural(2;0.0381)|all_hematologic(2;0.0749)|Renal(2;0.0758)|Melanoma(2;0.211) Colorectal(1;3.55e-51)|COAD - Colon adenocarcinoma(2;1.92e-46)|all cancers(1;5.36e-16)|Epithelial(1;3.98e-15)|READ - Rectum adenocarcinoma(2;3.71e-05)|GBM - Glioblastoma multiforme(1;0.0499) CGGACACGAGCGCTCAGACCG 0.657 NA 24 100 0 0 0 0 CDH11 1009 broad.mit.edu 37 16 65016076 65016076 + Silent SNP A A G TCGA-CN-5367-01A-01D-1434-08 TCGA-CN-5367-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 57adb398-48c5-4a14-a43e-f79a19befbda 3c6ca4c1-7112-4c0c-9d21-b00717fcd4de g.chr16:65016076A>G uc002eoi.2 - 8 1562 c.1128T>C c.(1126-1128)GAT>GAC p.D376D CDH11_uc010cdn.2_Intron|CDH11_uc002eoj.2_Silent_p.D376D|CDH11_uc010vin.1_Silent_p.D250D|CDH11_uc002eok.1_RNA NM_001797 NP_001788 P55287 CAD11_HUMAN cadherin 11, type 2 preproprotein 376 Cadherin 3.|Extracellular (Potential). adherens junction organization|cell junction assembly|homophilic cell adhesion|ossification|skeletal system development integral to membrane|plasma membrane calcium ion binding|protein binding lung(10)|ovary(3)|skin(1) 14 Ovarian(137;0.0973) OV - Ovarian serous cystadenocarcinoma(108;0.205) GCTCATCAGCATCTTCTACTG 0.517 NA T USP6 aneurysmal bone cysts TSP Lung(24;0.17) 12 129 0 0 0 0 FHOD1 29109 broad.mit.edu 37 16 67265094 67265094 + Silent SNP G G A TCGA-CN-5367-01A-01D-1434-08 TCGA-CN-5367-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 57adb398-48c5-4a14-a43e-f79a19befbda 3c6ca4c1-7112-4c0c-9d21-b00717fcd4de g.chr16:67265094G>A uc002esl.2 - 17 2776 c.2664C>T c.(2662-2664)GCC>GCT p.A888A FHOD1_uc002esk.2_5'Flank|FHOD1_uc010ced.2_Silent_p.A695A NM_013241 NP_037373 Q9Y613 FHOD1_HUMAN formin homology 2 domain containing 1 888 Potential.|FH2. actin cytoskeleton organization cytoplasm|cytoskeleton|nucleus actin binding breast(2)|ovary(1) 3 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.000691)|Epithelial(162;0.00462)|all cancers(182;0.0434) TGCTAACCTTGGCACAGCGGG 0.602 NA 6 43 0 0 0 0 FTSJD1 55783 broad.mit.edu 37 16 71319616 71319616 + Missense_Mutation SNP G G C TCGA-CN-5367-01A-01D-1434-08 TCGA-CN-5367-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 57adb398-48c5-4a14-a43e-f79a19befbda 3c6ca4c1-7112-4c0c-9d21-b00717fcd4de g.chr16:71319616G>C uc010cga.2 - 3 614 c.208C>G c.(208-210)CTA>GTA p.L70V FTSJD1_uc002ezy.3_Missense_Mutation_p.L70V|FTSJD1_uc002ezz.3_Missense_Mutation_p.L70V NM_001099642 NP_001093112 Q8IYT2 FTSJ1_HUMAN FtsJ methyltransferase domain containing 1 70 integral to membrane methyltransferase activity|nucleic acid binding skin(1) 1 ACTTCATTTAGGGAGTTCTTC 0.398 NA 29 129 0 0 0 0 DYNLRB2 83657 broad.mit.edu 37 16 80583408 80583408 + Missense_Mutation SNP A A G TCGA-CN-5367-01A-01D-1434-08 TCGA-CN-5367-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 57adb398-48c5-4a14-a43e-f79a19befbda 3c6ca4c1-7112-4c0c-9d21-b00717fcd4de g.chr16:80583408A>G uc002ffo.2 + 5 227 c.107A>G c.(106-108)AAC>AGC p.N36S DYNLRB2_uc002ffp.2_RNA|DYNLRB2_uc002ffq.2_RNA NM_130897 NP_570967 Q8TF09 DLRB2_HUMAN dynein, light chain, roadblock-type 2 36 microtubule-based movement|transport cytoplasmic dynein complex|microtubule microtubule motor activity 0 ACCTTGGACAACTCAACAACT 0.358 NA 12 36 0 0 0 0 BANP 54971 broad.mit.edu 37 16 88069000 88069000 + Missense_Mutation SNP G G T TCGA-CN-5367-01A-01D-1434-08 TCGA-CN-5367-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 57adb398-48c5-4a14-a43e-f79a19befbda 3c6ca4c1-7112-4c0c-9d21-b00717fcd4de g.chr16:88069000G>T uc002fkr.2 + 10 1460 c.1236G>T c.(1234-1236)GAG>GAT p.E412D BANP_uc002fkp.2_Missense_Mutation_p.E385D|BANP_uc002fkq.2_Missense_Mutation_p.E385D|BANP_uc010vow.1_Missense_Mutation_p.E420D|BANP_uc002fks.3_Missense_Mutation_p.E381D NM_079837 NP_524576 Q8N9N5 BANP_HUMAN BTG3 associated nuclear protein isoform b 413 Gln-rich. cell cycle|chromatin modification|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding 0 BRCA - Breast invasive adenocarcinoma(80;0.00551) AGGACAGCGAGGTGAGTCAGC 0.632 NA 8 16 0.000274275 0.000298451 1 0 TP53 7157 broad.mit.edu 37 17 7577121 7577121 + Missense_Mutation SNP G G A rs121913343 TCGA-CN-5367-01A-01D-1434-08 TCGA-CN-5367-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 57adb398-48c5-4a14-a43e-f79a19befbda 3c6ca4c1-7112-4c0c-9d21-b00717fcd4de g.chr17:7577121G>A uc002gim.2 - 8 1011 c.817C>T c.(817-819)CGT>TGT p.R273C TP53_uc002gig.1_Intron|TP53_uc002gih.2_Missense_Mutation_p.R273C|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.R141C|TP53_uc010cng.1_Missense_Mutation_p.R141C|TP53_uc002gii.1_Missense_Mutation_p.R141C|TP53_uc010cnh.1_Missense_Mutation_p.R273C|TP53_uc010cni.1_Missense_Mutation_p.R273C|TP53_uc002gij.2_Missense_Mutation_p.R273C NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 273 Interaction with DNA.||Interaction with E4F1.|Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity). R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (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.R273H(467)|p.R273C(396)|p.R273L(83)|p.R273P(24)|p.R273S(11)|p.R273G(9)|p.0?(7)|p.R273fs*72(3)|p.?(2)|p.R273fs*33(2)|p.F270fs*72(1)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.R273R(1)|p.E258fs*71(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.E271_R273delEVR(1)|p.V272_K292del21(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) GCACAAACACGCACCTCAAAG 0.542 R273C(SH10TC_STOMACH)|R273C(SUDHL4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(8MGBA_CENTRAL_NERVOUS_SYSTEM)|R273C(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273C(BL70_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SW1710_URINARY_TRACT)|R273C(RH30_SOFT_TISSUE)|R273C(PANC0213_PANCREAS)|R273C(SJRH30_SOFT_TISSUE)|R273C(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(RDES_BONE)|R273C(TT2609C02_THYROID)|R273C(MFE319_ENDOMETRIUM)|R273C(RPMI8402_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(EFO27_OVARY)|R273C(NCIH1048_LUNG)|R273C(KARPAS299_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE) 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) 9 39 0 0 0 0 TP53 7157 broad.mit.edu 37 17 7578449 7578449 + Missense_Mutation SNP C C T TCGA-CN-5367-01A-01D-1434-08 TCGA-CN-5367-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 57adb398-48c5-4a14-a43e-f79a19befbda 3c6ca4c1-7112-4c0c-9d21-b00717fcd4de g.chr17:7578449C>T uc002gim.2 - 5 675 c.481G>A c.(481-483)GCC>ACC p.A161T TP53_uc002gig.1_Missense_Mutation_p.A161T|TP53_uc002gih.2_Missense_Mutation_p.A161T|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.A29T|TP53_uc010cng.1_Missense_Mutation_p.A29T|TP53_uc002gii.1_Missense_Mutation_p.A29T|TP53_uc010cnh.1_Missense_Mutation_p.A161T|TP53_uc010cni.1_Missense_Mutation_p.A161T|TP53_uc002gij.2_Missense_Mutation_p.A161T|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.A68T|TP53_uc002gio.2_Missense_Mutation_p.A29T|TP53_uc010vug.1_Missense_Mutation_p.A122T NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 161 Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity). MA -> IP (in a sporadic cancer; somatic mutation).|MA -> IS (in sporadic cancers; somatic mutation).|MA -> IT (in a sporadic cancer; somatic mutation).|A -> G (in sporadic cancers; somatic mutation).|A -> V (in sporadic cancers; somatic mutation).|A -> D (in sporadic cancers; somatic mutation).|A -> P (in sporadic cancers; somatic mutation).|A -> S (in sporadic cancers; somatic mutation).|A -> F (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|A -> T (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.A161T(44)|p.A161D(8)|p.0?(7)|p.A161V(7)|p.A161A(5)|p.A161fs*9(3)|p.R156_I162delRVRAMAI(2)|p.M160fs*10(2)|p.V157_C176del20(1)|p.A161fs*19(1)|p.R156_A161delRVRAMA(1)|p.P151_V173del23(1)|p.R156fs*18(1)|p.A161fs*10(1)|p.R156_A161del(1)|p.V157fs*9(1)|p.A161fs*20(1)|p.M160_A161>IS(1)|p.A161fs*8(1)|p.A161G(1)|p.S149fs*72(1)|p.A161fs*7(1)|p.T155_A161delTRVRAMA(1)|p.R156fs*20(1)|p.A161S(1)|p.A161P(1)|p.V157_I162delVRAMAI(1)|p.A161F(1)|p.A159_Q167delAMAIYKQSQ(1)|p.R158fs*8(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) TTGTAGATGGCCATGGCGCGG 0.632 111 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) 17 62 0 0 0 0 PIK3R5 23533 broad.mit.edu 37 17 8808132 8808132 + Missense_Mutation SNP T T C TCGA-CN-5367-01A-01D-1434-08 TCGA-CN-5367-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 57adb398-48c5-4a14-a43e-f79a19befbda 3c6ca4c1-7112-4c0c-9d21-b00717fcd4de g.chr17:8808132T>C uc002glt.2 - 5 441 c.374A>G c.(373-375)GAG>GGG p.E125G PIK3R5_uc010vuz.1_Missense_Mutation_p.E125G|PIK3R5_uc002glu.3_5'UTR|PIK3R5_uc010coa.1_Missense_Mutation_p.E125G|PIK3R5_uc010cob.1_5'UTR NM_014308 NP_055123 Q8WYR1 PI3R5_HUMAN phosphoinositide-3-kinase, regulatory subunit 5 125 platelet activation cytosol|membrane|nucleus breast(2)|large_intestine(1)|central_nervous_system(1)|skin(1) 5 GGTGAGCAGCTCCTGGCAGAT 0.582 NA 28 57 0 0 0 0 PIGW 284098 broad.mit.edu 37 17 34893088 34893088 + Silent SNP G G A TCGA-CN-5367-01A-01D-1434-08 TCGA-CN-5367-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 57adb398-48c5-4a14-a43e-f79a19befbda 3c6ca4c1-7112-4c0c-9d21-b00717fcd4de g.chr17:34893088G>A uc002hmy.1 + 2 181 c.138G>A c.(136-138)TTG>TTA p.L46L MYO19_uc002hmw.2_5'Flank|MYO19_uc010cuu.2_5'Flank|MYO19_uc010wcy.1_5'Flank|MYO19_uc010wcz.1_5'Flank|MYO19_uc010wda.1_5'Flank|MYO19_uc002hmx.2_5'Flank|PIGW_uc002hmz.1_Silent_p.L46L NM_178517 NP_848612 Q7Z7B1 PIGW_HUMAN phosphatidylinositol glycan, class W 46 C-terminal protein lipidation|preassembly of GPI anchor in ER membrane endoplasmic reticulum membrane|integral to membrane O-acyltransferase activity 0 Breast(25;0.00957)|Ovarian(249;0.17) Kidney(155;0.104) UCEC - Uterine corpus endometrioid carcinoma (308;0.0182) CACAGTACTTGTGTTCTTTTT 0.448 NA 8 246 0 0 0 0 ST6GALNAC2 10610 broad.mit.edu 37 17 74563605 74563605 + Missense_Mutation SNP T T C TCGA-CN-5367-01A-01D-1434-08 TCGA-CN-5367-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 57adb398-48c5-4a14-a43e-f79a19befbda 3c6ca4c1-7112-4c0c-9d21-b00717fcd4de g.chr17:74563605T>C uc002jsg.3 - 8 1142 c.887A>G c.(886-888)CAT>CGT p.H296R NM_006456 NP_006447 Q9UJ37 SIA7B_HUMAN sialyltransferase 7B 296 Lumenal (Potential). protein glycosylation integral to Golgi membrane sialyltransferase activity 0 GTCTCCAAAATGTGTGTTAAT 0.443 NA 12 51 0 0 0 0 MYOM1 8736 broad.mit.edu 37 18 3067467 3067467 + Missense_Mutation SNP G G C TCGA-CN-5367-01A-01D-1434-08 TCGA-CN-5367-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 57adb398-48c5-4a14-a43e-f79a19befbda 3c6ca4c1-7112-4c0c-9d21-b00717fcd4de g.chr18:3067467G>C uc002klp.2 - 38 5185 c.4851C>G c.(4849-4851)GAC>GAG p.D1617E MYOM1_uc002klq.2_Missense_Mutation_p.D1521E NM_003803 NP_003794 P52179 MYOM1_HUMAN myomesin 1 isoform a 1617 Ig-like C2-type 5. D -> G (in Ref. 2; BAC86128). striated muscle myosin thick filament structural constituent of muscle ovary(3)|central_nervous_system(1)|pancreas(1) 5 GGTTGCAGTGGTCGTCTGAGG 0.587 NA 472 22 0 0 0 0 SPIRE1 56907 broad.mit.edu 37 18 12493083 12493083 + Missense_Mutation SNP G G A TCGA-CN-5367-01A-01D-1434-08 TCGA-CN-5367-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 57adb398-48c5-4a14-a43e-f79a19befbda 3c6ca4c1-7112-4c0c-9d21-b00717fcd4de g.chr18:12493083G>A uc002kre.2 - 8 1224 c.1177C>T c.(1177-1179)CGT>TGT p.R393C SPIRE1_uc002krc.2_RNA|SPIRE1_uc010wzw.1_Missense_Mutation_p.R273C|SPIRE1_uc010wzx.1_Missense_Mutation_p.R196C|SPIRE1_uc010wzy.1_Missense_Mutation_p.R393C NM_001128626 NP_001122098 Q08AE8 SPIR1_HUMAN spire homolog 1 isoform a 393 cytoskeleton|perinuclear region of cytoplasm actin binding 0 AATCTGCTACGTCTAATCTCC 0.468 NA 18 37 0 0 0 0 SALL3 27164 broad.mit.edu 37 18 76754699 76754699 + Missense_Mutation SNP A A G TCGA-CN-5367-01A-01D-1434-08 TCGA-CN-5367-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 57adb398-48c5-4a14-a43e-f79a19befbda 3c6ca4c1-7112-4c0c-9d21-b00717fcd4de g.chr18:76754699A>G uc002lmt.2 + 2 2708 c.2708A>G c.(2707-2709)CAG>CGG p.Q903R SALL3_uc010dra.2_Missense_Mutation_p.Q510R NM_171999 NP_741996 Q9BXA9 SALL3_HUMAN sal-like 3 903 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(2)|large_intestine(1)|central_nervous_system(1) 4 Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167) OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256) TCGTCCTCGCAGGCCCTGTCG 0.726 NA 4 10 0 0 0 0 PDE4C 5143 broad.mit.edu 37 19 18322001 18322001 + Missense_Mutation SNP G G A TCGA-CN-5367-01A-01D-1434-08 TCGA-CN-5367-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 57adb398-48c5-4a14-a43e-f79a19befbda 3c6ca4c1-7112-4c0c-9d21-b00717fcd4de g.chr19:18322001G>A uc010xqc.1 - 15 2357 c.1877C>T c.(1876-1878)ACG>ATG p.T626M PDE4C_uc002nik.3_Missense_Mutation_p.T626M|PDE4C_uc002nil.3_Missense_Mutation_p.T626M|PDE4C_uc002nif.3_Missense_Mutation_p.T395M|PDE4C_uc002nig.3_Missense_Mutation_p.T341M|PDE4C_uc002nih.3_Missense_Mutation_p.T396M|PDE4C_uc010ebk.2_Missense_Mutation_p.T520M|PDE4C_uc002nii.3_Missense_Mutation_p.T594M|PDE4C_uc010ebl.2_Missense_Mutation_p.T340M NM_001098819 NP_001092289 Q08493 PDE4C_HUMAN phosphodiesterase 4C isoform PDE4C-2 626 signal transduction cytosol 3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding ovary(2)|skin(2)|central_nervous_system(1) 5 Dyphylline(DB00651) GTCCTCCAGCGTGTCCAGCAG 0.597 NA 7 108 0 0 0 0 ZNF536 9745 broad.mit.edu 37 19 31040060 31040060 + Silent SNP C C T TCGA-CN-5367-01A-01D-1434-08 TCGA-CN-5367-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 57adb398-48c5-4a14-a43e-f79a19befbda 3c6ca4c1-7112-4c0c-9d21-b00717fcd4de g.chr19:31040060C>T uc002nsu.1 + 4 3672 c.3534C>T c.(3532-3534)AAC>AAT p.N1178N ZNF536_uc010edd.1_Silent_p.N1178N NM_014717 NP_055532 O15090 ZN536_HUMAN zinc finger protein 536 1178 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus zinc ion binding ovary(7)|large_intestine(2)|skin(2) 11 Esophageal squamous(110;0.0834) GGGAGAACAACGATGAAGAGG 0.552 NA 15 44 0 0 0 0 SPRED3 399473 broad.mit.edu 37 19 38882740 38882740 + Missense_Mutation SNP C C A TCGA-CN-5367-01A-01D-1434-08 TCGA-CN-5367-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 57adb398-48c5-4a14-a43e-f79a19befbda 3c6ca4c1-7112-4c0c-9d21-b00717fcd4de g.chr19:38882740C>A uc002oim.2 + 2 336 c.332C>A c.(331-333)GCC>GAC p.A111D SPRED3_uc002oil.1_Missense_Mutation_p.A111D NM_001042522 NP_001035987 Q2MJR0 SPRE3_HUMAN sprouty-related, EVH1 domain containing 3 111 WH1. multicellular organismal development central_nervous_system(2)|lung(1)|skin(1) 4 all_cancers(60;3.4e-06) Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272) GCTGCGCTGGCCGCACTGGGT 0.607 NA 39 88 4.92e-23 5.72e-23 1 0 FPR1 2357 broad.mit.edu 37 19 52249293 52249293 + Missense_Mutation SNP T T C TCGA-CN-5367-01A-01D-1434-08 TCGA-CN-5367-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 57adb398-48c5-4a14-a43e-f79a19befbda 3c6ca4c1-7112-4c0c-9d21-b00717fcd4de g.chr19:52249293T>C uc002pxq.2 - 2 1050 c.955A>G c.(955-957)AGT>GGT p.S319G NM_002029 NP_002020 P21462 FPR1_HUMAN formyl peptide receptor 1 319 Cytoplasmic (Potential). activation of MAPK activity|cellular component movement|chemotaxis|G-protein signaling, coupled to cAMP nucleotide second messenger|nitric oxide mediated signal transduction endosome|integral to membrane|plasma membrane N-formyl peptide receptor activity ovary(1)|lung(1)|skin(1) 3 all_neural(266;0.0189)|Medulloblastoma(540;0.146) GBM - Glioblastoma multiforme(134;0.00106)|OV - Ovarian serous cystadenocarcinoma(262;0.018) Nedocromil(DB00716) CTCTCCAGACTGGCGGGAAGG 0.567 NA 8 98 0 0 0 0 ZNF471 57573 broad.mit.edu 37 19 57027646 57027646 + Missense_Mutation SNP C C G TCGA-CN-5367-01A-01D-1434-08 TCGA-CN-5367-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 57adb398-48c5-4a14-a43e-f79a19befbda 3c6ca4c1-7112-4c0c-9d21-b00717fcd4de g.chr19:57027646C>G uc002qnh.2 + 3 169 c.36C>G c.(34-36)GAC>GAG p.D12E NM_020813 NP_065864 Q9BX82 ZN471_HUMAN zinc finger protein 471 12 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding large_intestine(1)|ovary(1) 2 Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157) GBM - Glioblastoma multiforme(193;0.0307) CACTTCAGGACTTAGTGACAT 0.398 NA 27 90 0 0 0 0 ERCC3 2071 broad.mit.edu 37 2 128046972 128046972 + Missense_Mutation SNP T T C TCGA-CN-5367-01A-01D-1434-08 TCGA-CN-5367-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 57adb398-48c5-4a14-a43e-f79a19befbda 3c6ca4c1-7112-4c0c-9d21-b00717fcd4de g.chr2:128046972T>C uc002toh.1 - 6 858 c.763A>G c.(763-765)ATG>GTG p.M255V ERCC3_uc002toe.1_Missense_Mutation_p.M10V|ERCC3_uc002tof.1_Missense_Mutation_p.M191V|ERCC3_uc002tog.1_Missense_Mutation_p.M191V|ERCC3_uc010flx.1_Missense_Mutation_p.M10V|ERCC3_uc010yzh.1_RNA NM_000122 NP_000113 P19447 ERCC3_HUMAN excision repair cross-complementing rodent 255 cell cycle checkpoint|DNA topological change|hair cell differentiation|induction of apoptosis|interspecies interaction between organisms|mRNA capping|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA duplex unwinding|nucleotide-excision repair, DNA incision|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein localization|response to oxidative stress|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction holo TFIIH complex 3'-5' DNA helicase activity|ATP binding|damaged DNA binding|protein C-terminus binding|protein N-terminus binding|transcription factor binding ovary(2)|lung(2)|breast(2)|kidney(1) 7 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.073) TCCTTGTCCATTTGCTCATAG 0.478 NA Mis|S skin basal cell|skin squamous cell|melanoma Direct_reversal_of_damage|NER Xeroderma_Pigmentosum 16 60 0 0 0 0 NCKAP5 344148 broad.mit.edu 37 2 133538710 133538710 + Missense_Mutation SNP A A G TCGA-CN-5367-01A-01D-1434-08 TCGA-CN-5367-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 57adb398-48c5-4a14-a43e-f79a19befbda 3c6ca4c1-7112-4c0c-9d21-b00717fcd4de g.chr2:133538710A>G uc002ttp.2 - 15 5338 c.4964T>C c.(4963-4965)CTC>CCC p.L1655P NCKAP5_uc002ttq.2_Intron NM_207363 NP_997246 O14513 NCKP5_HUMAN Nck-associated protein 5 isoform 1 1655 protein binding 0 GCTGCCGATGAGACAGGAGCC 0.458 NA 7 41 0 0 0 0 ITGB6 3694 broad.mit.edu 37 2 161052924 161052924 + Missense_Mutation SNP G G A TCGA-CN-5367-01A-01D-1434-08 TCGA-CN-5367-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 57adb398-48c5-4a14-a43e-f79a19befbda 3c6ca4c1-7112-4c0c-9d21-b00717fcd4de g.chr2:161052924G>A uc002ubh.2 - 3 165 c.149C>T c.(148-150)ACT>ATT p.T50I ITGB6_uc010fow.1_RNA|ITGB6_uc010fou.2_Missense_Mutation_p.T50I|ITGB6_uc010zcq.1_Missense_Mutation_p.T8I|ITGB6_uc010fov.1_Missense_Mutation_p.T50I NM_000888 NP_000879 P18564 ITB6_HUMAN integrin, beta 6 precursor 50 Extracellular (Potential). cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|multicellular organismal development integrin complex receptor activity ovary(1)|lung(1)|skin(1) 3 AGATGGATGAGTAAAATTCTA 0.333 NA 55 142 0 0 0 0 ITGA6 3655 broad.mit.edu 37 2 173352098 173352098 + Missense_Mutation SNP G G A TCGA-CN-5367-01A-01D-1434-08 TCGA-CN-5367-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 57adb398-48c5-4a14-a43e-f79a19befbda 3c6ca4c1-7112-4c0c-9d21-b00717fcd4de g.chr2:173352098G>A uc002uhp.1 + 15 2280 c.2077G>A c.(2077-2079)GAT>AAT p.D693N ITGA6_uc010zdy.1_Missense_Mutation_p.D574N|ITGA6_uc002uho.1_Missense_Mutation_p.D693N|ITGA6_uc010fqm.1_Missense_Mutation_p.D339N NM_001079818 NP_001073286 P23229 ITA6_HUMAN integrin alpha chain, alpha 6 isoform a 732 Extracellular (Potential). blood coagulation|cell adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|leukocyte migration|negative regulation of apoptosis|positive regulation of apoptosis|positive regulation of phosphorylation|positive regulation of transcription from RNA polymerase II promoter integrin complex protein binding|receptor activity ovary(1)|lung(1) 2 OV - Ovarian serous cystadenocarcinoma(117;0.0979) AAAAGATGGCGATGACGCCCA 0.418 NA 28 62 0 0 0 0 TTN 7273 broad.mit.edu 37 2 179582331 179582331 + Missense_Mutation SNP G G T TCGA-CN-5367-01A-01D-1434-08 TCGA-CN-5367-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 57adb398-48c5-4a14-a43e-f79a19befbda 3c6ca4c1-7112-4c0c-9d21-b00717fcd4de g.chr2:179582331G>T uc010zfg.1 - 84 21762 c.21538C>A c.(21538-21540)CAG>AAG p.Q7180K TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.Q3841K NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 8107 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1) 153 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) ATGTGGCTCTGGTCAGTTTGT 0.423 NA 11 33 4.69e-08 5.3e-08 1 0 ZC3H15 55854 broad.mit.edu 37 2 187366146 187366146 + Missense_Mutation SNP G G C TCGA-CN-5367-01A-01D-1434-08 TCGA-CN-5367-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 57adb398-48c5-4a14-a43e-f79a19befbda 3c6ca4c1-7112-4c0c-9d21-b00717fcd4de g.chr2:187366146G>C uc002upo.2 + 4 661 c.436G>C c.(436-438)GAA>CAA p.E146Q NM_018471 NP_060941 Q8WU90 ZC3HF_HUMAN erythropoietin 4 immediate early response 146 cytoplasm|nucleolus|plasma membrane nucleic acid binding|zinc ion binding skin(1) 1 OV - Ovarian serous cystadenocarcinoma(117;0.0148)|Epithelial(96;0.0922)|all cancers(119;0.233) TGAAGAACTTGAAAAAGGTAA 0.299 NA 4 82 0 0 0 0 PAX3 5077 broad.mit.edu 37 2 223161786 223161786 + Missense_Mutation SNP C C T TCGA-CN-5367-01A-01D-1434-08 TCGA-CN-5367-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 57adb398-48c5-4a14-a43e-f79a19befbda 3c6ca4c1-7112-4c0c-9d21-b00717fcd4de g.chr2:223161786C>T uc010fwo.2 - 2 598 c.232G>A c.(232-234)GTG>ATG p.V78M PAX3_uc002vmt.1_Missense_Mutation_p.V78M|PAX3_uc002vmy.1_Missense_Mutation_p.V78M|PAX3_uc002vmv.1_Missense_Mutation_p.V78M|PAX3_uc002vmw.1_Missense_Mutation_p.V78M|PAX3_uc002vmx.1_Missense_Mutation_p.V78M|PAX3_uc002vmz.1_Missense_Mutation_p.V78M|PAX3_uc002vna.1_Missense_Mutation_p.V78M|CCDC140_uc002vnb.1_5'Flank NM_181457 NP_852122 P23760 PAX3_HUMAN paired box 3 isoform PAX3 78 Paired. V -> M (in WS1). apoptosis|organ morphogenesis|positive regulation of transcription from RNA polymerase II promoter|sensory perception of sound|transcription from RNA polymerase II promoter nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity PAX3/FOXO1(749)|PAX3/NCOA1(8)|PAX3/NCOA2(4) soft_tissue(761)|ovary(4)|skin(1) 766 Renal(207;0.0183) Epithelial(121;4.13e-10)|all cancers(144;1.85e-07)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) CCGTGGGACACGCGCAGCTGG 0.652 NA T FOXO1A|NCOA1 alveolar rhabdomyosarcoma Waardenburg syndrome; craniofacial-deafness-hand syndrome 3 36 0 0 0 0 PLCB4 5332 broad.mit.edu 37 20 9388620 9388620 + Silent SNP T T C TCGA-CN-5367-01A-01D-1434-08 TCGA-CN-5367-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 57adb398-48c5-4a14-a43e-f79a19befbda 3c6ca4c1-7112-4c0c-9d21-b00717fcd4de g.chr20:9388620T>C uc002wnf.2 + 20 1804 c.1668T>C c.(1666-1668)GGT>GGC p.G556G PLCB4_uc010gbw.1_Silent_p.G556G|PLCB4_uc010gbx.2_Silent_p.G568G|PLCB4_uc002wne.2_Silent_p.G556G|PLCB4_uc002wnh.2_Silent_p.G403G NM_182797 NP_877949 Q15147 PLCB4_HUMAN phospholipase C beta 4 isoform b 556 intracellular signal transduction|lipid catabolic process cytosol calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity skin(11)|ovary(3)|pancreas(1) 15 AATATGTAGGTGCTACCACTA 0.423 NA 44 130 0 0 0 0 FLRT3 23767 broad.mit.edu 37 20 14306474 14306474 + Missense_Mutation SNP G G A TCGA-CN-5367-01A-01D-1434-08 TCGA-CN-5367-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 57adb398-48c5-4a14-a43e-f79a19befbda 3c6ca4c1-7112-4c0c-9d21-b00717fcd4de g.chr20:14306474G>A uc002wov.1 - 3 2146 c.1679C>T c.(1678-1680)TCA>TTA p.S560L MACROD2_uc002wot.2_Intron|MACROD2_uc002wou.2_Intron|FLRT3_uc002wow.1_Missense_Mutation_p.S560L NM_198391 NP_938205 Q9NZU0 FLRT3_HUMAN fibronectin leucine rich transmembrane protein 3 560 Cytoplasmic (Potential). cell adhesion integral to plasma membrane|proteinaceous extracellular matrix protein binding, bridging|receptor signaling protein activity kidney(1) 1 Colorectal(1;0.0464) COAD - Colon adenocarcinoma(2;0.129) Colorectal(1;0.0393) ACAGTTCCTTGAGAAGAGCGA 0.468 NA 57 117 0 0 0 0 PLK1S1 55857 broad.mit.edu 37 20 21143678 21143678 + Silent SNP C C A TCGA-CN-5367-01A-01D-1434-08 TCGA-CN-5367-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 57adb398-48c5-4a14-a43e-f79a19befbda 3c6ca4c1-7112-4c0c-9d21-b00717fcd4de g.chr20:21143678C>A uc002wsb.2 + 6 1363 c.1230C>A c.(1228-1230)GCC>GCA p.A410A PLK1S1_uc010zsh.1_Silent_p.A307A|PLK1S1_uc010zsi.1_Silent_p.A277A|PLK1S1_uc010zsj.1_RNA|uc002wsc.2_Intron|PLK1S1_uc002wsd.2_RNA NM_018474 NP_060944 Q2M2Z5 KIZ_HUMAN polo-like kinase 1 substrate 1 isoform 1 410 spindle organization centrosome protein kinase binding 0 GAATAGAGGCCTTAAAATTAA 0.408 NA 20 39 5.35e-07 6.01e-07 1 0 PYGB 5834 broad.mit.edu 37 20 25276260 25276260 + Missense_Mutation SNP A A G TCGA-CN-5367-01A-01D-1434-08 TCGA-CN-5367-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 57adb398-48c5-4a14-a43e-f79a19befbda 3c6ca4c1-7112-4c0c-9d21-b00717fcd4de g.chr20:25276260A>G uc002wup.2 + 19 2442 c.2333A>G c.(2332-2334)TAT>TGT p.Y778C ABHD12_uc002wuq.2_Intron|ABHD12_uc002wur.2_Intron NM_002862 NP_002853 P11216 PYGB_HUMAN brain glycogen phosphorylase 778 glucose metabolic process|glycogen catabolic process cytoplasm glycogen phosphorylase activity|pyridoxal phosphate binding central_nervous_system(1)|skin(1) 2 Pyridoxal Phosphate(DB00114) TTTGCAGACTATGAAGCCTAC 0.632 NA 22 88 0 0 0 0 NFATC2 4773 broad.mit.edu 37 20 50140011 50140011 + Missense_Mutation SNP C C T TCGA-CN-5367-01A-01D-1434-08 TCGA-CN-5367-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 57adb398-48c5-4a14-a43e-f79a19befbda 3c6ca4c1-7112-4c0c-9d21-b00717fcd4de g.chr20:50140011C>T uc002xwd.2 - 2 989 c.769G>A c.(769-771)GCC>ACC p.A257T NFATC2_uc002xwc.2_Missense_Mutation_p.A257T|NFATC2_uc010zyv.1_Missense_Mutation_p.A38T|NFATC2_uc010zyw.1_Missense_Mutation_p.A38T|NFATC2_uc010zyx.1_Missense_Mutation_p.A237T|NFATC2_uc010zyy.1_Missense_Mutation_p.A38T|NFATC2_uc010zyz.1_Missense_Mutation_p.A38T|NFATC2_uc002xwe.2_Missense_Mutation_p.A237T NM_173091 NP_775114 Q13469 NFAC2_HUMAN nuclear factor of activated T-cells, 257 3 X approximate SP repeats. B cell receptor signaling pathway|positive regulation of B cell proliferation|response to DNA damage stimulus|response to drug actin cytoskeleton|nucleus|plasma membrane protein binding|sequence-specific DNA binding transcription factor activity ovary(2) 2 Hepatocellular(150;0.248) AAGGCCTCGGCGCACGAATGC 0.741 NA 9 36 0 0 0 0 DIDO1 11083 broad.mit.edu 37 20 61510637 61510637 + Missense_Mutation SNP G G C TCGA-CN-5367-01A-01D-1434-08 TCGA-CN-5367-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 57adb398-48c5-4a14-a43e-f79a19befbda 3c6ca4c1-7112-4c0c-9d21-b00717fcd4de g.chr20:61510637G>C uc002ydr.1 - 16 6935 c.6671C>G c.(6670-6672)CCG>CGG p.P2224R DIDO1_uc002yds.1_Missense_Mutation_p.P2224R NM_033081 NP_149072 Q9BTC0 DIDO1_HUMAN death inducer-obliterator 1 isoform c 2224 apoptosis|transcription, DNA-dependent cytoplasm|nucleus zinc ion binding ovary(3)|skin(3) 6 Breast(26;5.68e-08) CTCGGGCTTCGGGTCCCGAGC 0.483 NA 3 13 0 0 0 0 YTHDF1 54915 broad.mit.edu 37 20 61834905 61834905 + Missense_Mutation SNP G G C TCGA-CN-5367-01A-01D-1434-08 TCGA-CN-5367-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 57adb398-48c5-4a14-a43e-f79a19befbda 3c6ca4c1-7112-4c0c-9d21-b00717fcd4de g.chr20:61834905G>C uc002yeh.2 - 4 681 c.387C>G c.(385-387)TTC>TTG p.F129L YTHDF1_uc011aaq.1_Missense_Mutation_p.F79L NM_017798 NP_060268 Q9BYJ9 YTHD1_HUMAN YTH domain family, member 1 129 ovary(2) 2 CCCATGCTGAGAACGCAGGGT 0.567 NA 20 50 0 0 0 0 KRTAP10-6 386674 broad.mit.edu 37 21 46011993 46011993 + Missense_Mutation SNP A A C TCGA-CN-5367-01A-01D-1434-08 TCGA-CN-5367-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 57adb398-48c5-4a14-a43e-f79a19befbda 3c6ca4c1-7112-4c0c-9d21-b00717fcd4de g.chr21:46011993A>C uc002zfm.2 - 1 394 c.373T>G c.(373-375)TGT>GGT p.C125G C21orf29_uc002zfe.1_Intron|C21orf29_uc010gpv.1_Intron NM_198688 NP_941961 P60371 KR106_HUMAN keratin associated protein 10-6 125 29 X 5 AA repeats of C-C-X(3).|9. keratin filament 0 ACGGACACACAGCACACAGGC 0.642 NA 6 63 0 0 0 0 GRM2 2912 broad.mit.edu 37 3 51746779 51746779 + Silent SNP C C T TCGA-CN-5367-01A-01D-1434-08 TCGA-CN-5367-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 57adb398-48c5-4a14-a43e-f79a19befbda 3c6ca4c1-7112-4c0c-9d21-b00717fcd4de g.chr3:51746779C>T uc010hlv.2 + 3 980 c.741C>T c.(739-741)CGC>CGT p.R247R GRM2_uc003dbo.3_Intron|GRM2_uc010hlu.2_RNA NM_000839 NP_000830 Q14416 GRM2_HUMAN glutamate receptor, metabotropic 2 isoform a 247 Extracellular (Potential). synaptic transmission integral to plasma membrane lung(1) 1 BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716) Acamprosate(DB00659)|Nicotine(DB00184) CCATGAGCCGCGCGGCCTTTG 0.647 NA 3 37 0 0 0 0 SUCLG2 8801 broad.mit.edu 37 3 67546294 67546294 + Missense_Mutation SNP G G T TCGA-CN-5367-01A-01D-1434-08 TCGA-CN-5367-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 57adb398-48c5-4a14-a43e-f79a19befbda 3c6ca4c1-7112-4c0c-9d21-b00717fcd4de g.chr3:67546294G>T uc003dna.3 - 9 1018 c.990C>A c.(988-990)TTC>TTA p.F330L SUCLG2_uc010hob.2_Intron NM_003848 NP_003839 Q96I99 SUCB2_HUMAN succinate-CoA ligase, GDP-forming beta subunit 330 succinyl-CoA metabolic process|tricarboxylic acid cycle mitochondrial matrix ATP binding|GTP binding|succinate-CoA ligase (GDP-forming) activity central_nervous_system(1)|skin(1) 2 Renal(2;0.00294)|Lung NSC(201;0.012)|Hepatocellular(537;0.121) BRCA - Breast invasive adenocarcinoma(55;3.53e-05)|Epithelial(33;0.000153) Succinic acid(DB00139) CAAGATCCAAGAAGTTGGCTG 0.443 NA 17 31 2e-07 2.25e-07 1 0 ZNF654 55279 broad.mit.edu 37 3 88189025 88189025 + Missense_Mutation SNP G G C TCGA-CN-5367-01A-01D-1434-08 TCGA-CN-5367-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 57adb398-48c5-4a14-a43e-f79a19befbda 3c6ca4c1-7112-4c0c-9d21-b00717fcd4de g.chr3:88189025G>C uc003dqv.2 + 1 764 c.565G>C c.(565-567)GAC>CAC p.D189H CGGBP1_uc003dqu.2_Intron NM_018293 NP_060763 Q8IZM8 ZN654_HUMAN zinc finger protein 654 189 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 Lung NSC(201;0.0283) UCEC - Uterine corpus endometrioid carcinoma (27;0.194)|LUSC - Lung squamous cell carcinoma(29;0.00353)|Lung(72;0.00661) CCATCCAAAAGACATATATGC 0.284 NA 6 13 0 0 0 0 OR5H15 403274 broad.mit.edu 37 3 97888223 97888223 + Missense_Mutation SNP A A T TCGA-CN-5367-01A-01D-1434-08 TCGA-CN-5367-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 57adb398-48c5-4a14-a43e-f79a19befbda 3c6ca4c1-7112-4c0c-9d21-b00717fcd4de g.chr3:97888223A>T uc011bgu.1 + 1 680 c.680A>T c.(679-681)GAA>GTA p.E227V NM_001005515 NP_001005515 A6NDH6 O5H15_HUMAN olfactory receptor, family 5, subfamily H, 227 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|skin(1) 2 ACAGTCTTAGAAAAGAAATCT 0.358 NA 5 96 0 0 0 0 SLC9A10 285335 broad.mit.edu 37 3 111918181 111918181 + Missense_Mutation SNP G G A TCGA-CN-5367-01A-01D-1434-08 TCGA-CN-5367-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 57adb398-48c5-4a14-a43e-f79a19befbda 3c6ca4c1-7112-4c0c-9d21-b00717fcd4de g.chr3:111918181G>A uc003dyu.2 - 20 2732 c.2510C>T c.(2509-2511)GCT>GTT p.A837V SLC9A10_uc011bhu.1_Missense_Mutation_p.A100V|SLC9A10_uc010hqc.2_Missense_Mutation_p.A789V NM_183061 NP_898884 Q4G0N8 S9A10_HUMAN sperm-specific sodium proton exchanger 837 cell differentiation|multicellular organismal development|sodium ion transport|spermatogenesis cilium|flagellar membrane|integral to membrane solute:hydrogen antiporter activity ovary(3)|breast(2) 5 ATTAATTCCAGCACCTTCAGT 0.303 NA 3 92 0 0 0 0 POLQ 10721 broad.mit.edu 37 3 121200622 121200622 + Missense_Mutation SNP G G A TCGA-CN-5367-01A-01D-1434-08 TCGA-CN-5367-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 57adb398-48c5-4a14-a43e-f79a19befbda 3c6ca4c1-7112-4c0c-9d21-b00717fcd4de g.chr3:121200622G>A uc003eee.3 - 19 6137 c.6008C>T c.(6007-6009)CCG>CTG p.P2003L POLQ_uc003eed.2_Missense_Mutation_p.P1175L NM_199420 NP_955452 O75417 DPOLQ_HUMAN DNA polymerase theta 2003 DNA repair|DNA replication nucleoplasm ATP binding|ATP-dependent helicase activity|damaged DNA binding|DNA-directed DNA polymerase activity|single-stranded DNA-dependent ATPase activity ovary(4)|breast(3)|lung(2)|upper_aerodigestive_tract(1)|skin(1) 11 GBM - Glioblastoma multiforme(114;0.0915) ATGAAGAGTCGGCTCCTGAGA 0.438 NA DNA_polymerases_(catalytic_subunits) 16 116 0 0 0 0 TF 7018 broad.mit.edu 37 3 133486976 133486976 + Silent SNP A A G TCGA-CN-5367-01A-01D-1434-08 TCGA-CN-5367-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 57adb398-48c5-4a14-a43e-f79a19befbda 3c6ca4c1-7112-4c0c-9d21-b00717fcd4de g.chr3:133486976A>G uc003epu.1 + 18 3318 c.1590A>G c.(1588-1590)AAA>AAG p.K530K TF_uc011blt.1_Silent_p.K403K|TF_uc003epw.1_Intron|TF_uc003epv.1_Silent_p.K530K NM_001063 NP_001054 P02787 TRFE_HUMAN transferrin precursor 530 Transferrin-like 2. cellular iron ion homeostasis|platelet activation|platelet degranulation|transferrin transport|transmembrane transport apical plasma membrane|basal plasma membrane|coated pit|early endosome|endocytic vesicle|endosome membrane|extracellular region|late endosome|perinuclear region of cytoplasm|recycling endosome|stored secretory granule ferric iron binding ovary(1)|skin(1) 2 Aluminium(DB01370)|Bismuth(DB01402)|Iron Dextran(DB00893) CCAACAACAAAGAGGGATACT 0.443 NA 14 85 0 0 0 0 MCCC1 56922 broad.mit.edu 37 3 182759449 182759449 + Silent SNP A A C TCGA-CN-5367-01A-01D-1434-08 TCGA-CN-5367-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 57adb398-48c5-4a14-a43e-f79a19befbda 3c6ca4c1-7112-4c0c-9d21-b00717fcd4de g.chr3:182759449A>C uc003fle.2 - 11 1310 c.1173T>G c.(1171-1173)CCT>CCG p.P391P MCCC1_uc010hxi.2_RNA|MCCC1_uc011bqo.1_RNA|MCCC1_uc003flf.2_Silent_p.P274P|MCCC1_uc003flg.2_Silent_p.P282P|MCCC1_uc011bqp.1_Silent_p.P344P NM_020166 NP_064551 Q96RQ3 MCCA_HUMAN methylcrotonoyl-Coenzyme A carboxylase 1 (alpha) 391 Biotin carboxylation. biotin metabolic process|leucine catabolic process mitochondrial inner membrane|mitochondrial matrix ATP binding|biotin binding|biotin carboxylase activity|metal ion binding|methylcrotonoyl-CoA carboxylase activity ovary(1)|central_nervous_system(1)|skin(1) 3 all_cancers(143;1.84e-14)|Ovarian(172;0.0355) all cancers(12;1.8e-44)|Epithelial(37;3.23e-38)|LUSC - Lung squamous cell carcinoma(7;5.04e-25)|Lung(8;5.03e-23)|OV - Ovarian serous cystadenocarcinoma(80;5.07e-21) Biotin(DB00121) AGTTATTGCTAGGATCTTCTG 0.488 NA 12 206 0 0 0 0 HTR3C 170572 broad.mit.edu 37 3 183773130 183773130 + Missense_Mutation SNP C C G TCGA-CN-5367-01A-01D-1434-08 TCGA-CN-5367-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 57adb398-48c5-4a14-a43e-f79a19befbda 3c6ca4c1-7112-4c0c-9d21-b00717fcd4de g.chr3:183773130C>G uc003fmk.2 + 3 299 c.265C>G c.(265-267)CTG>GTG p.L89V NM_130770 NP_570126 Q8WXA8 5HT3C_HUMAN 5-hydroxytryptamine receptor 3 subunit C 89 Extracellular (Potential). integral to membrane|plasma membrane|postsynaptic membrane extracellular ligand-gated ion channel activity|receptor activity large_intestine(1)|ovary(1)|central_nervous_system(1) 3 all_cancers(143;2.33e-10)|Ovarian(172;0.0303) Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22) GACATCATTCCTGTGGATGGA 0.403 NA 23 105 0 0 0 0 TBC1D14 57533 broad.mit.edu 37 4 6925212 6925212 + Silent SNP C C T TCGA-CN-5367-01A-01D-1434-08 TCGA-CN-5367-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 57adb398-48c5-4a14-a43e-f79a19befbda 3c6ca4c1-7112-4c0c-9d21-b00717fcd4de g.chr4:6925212C>T uc011bwg.1 + 2 175 c.96C>T c.(94-96)CAC>CAT p.H32H TBC1D14_uc003gjs.3_Silent_p.H32H NM_001113361 NP_001106832 Q9P2M4 TBC14_HUMAN TBC1 domain family, member 14 isoform a 32 intracellular Rab GTPase activator activity ovary(1)|pancreas(1) 2 ACCTGCAACACGTCAATCTCA 0.562 NA 9 108 0 0 0 0 LAP3 51056 broad.mit.edu 37 4 17583958 17583958 + Silent SNP A A G TCGA-CN-5367-01A-01D-1434-08 TCGA-CN-5367-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 57adb398-48c5-4a14-a43e-f79a19befbda 3c6ca4c1-7112-4c0c-9d21-b00717fcd4de g.chr4:17583958A>G uc003gph.1 + 4 483 c.321A>G c.(319-321)GGA>GGG p.G107G LAP3_uc010ieg.2_Intron NM_015907 NP_056991 P28838 AMPL_HUMAN leucine aminopeptidase 3 107 proteolysis nucleus aminopeptidase activity|magnesium ion binding|manganese ion binding|metalloexopeptidase activity|zinc ion binding 0 AGGCAGCTGGAATCGACGAAC 0.438 NA 3 24 0 0 0 0 EPHA5 2044 broad.mit.edu 37 4 66197778 66197778 + Missense_Mutation SNP A A T TCGA-CN-5367-01A-01D-1434-08 TCGA-CN-5367-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 57adb398-48c5-4a14-a43e-f79a19befbda 3c6ca4c1-7112-4c0c-9d21-b00717fcd4de g.chr4:66197778A>T uc003hcy.2 - 17 3114 c.2921T>A c.(2920-2922)CTA>CAA p.L974Q EPHA5_uc003hcx.2_Missense_Mutation_p.L906Q|EPHA5_uc003hcz.2_Missense_Mutation_p.L952Q|EPHA5_uc011cah.1_Missense_Mutation_p.L975Q|EPHA5_uc011cai.1_Missense_Mutation_p.L953Q|EPHA5_uc003hda.2_Missense_Mutation_p.L975Q NM_004439 NP_004430 P54756 EPHA5_HUMAN ephrin receptor EphA5 isoform a precursor 974 Cytoplasmic (Potential).|SAM. cAMP-mediated signaling|neuron development dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum ATP binding|transmembrane-ephrin receptor activity lung(19)|stomach(2)|ovary(2)|central_nervous_system(1) 24 GATTGCCTCTAGCCATTCACC 0.398 NA TSP Lung(17;0.13) 22 49 0 0 0 0 CCRN4L 25819 broad.mit.edu 37 4 139964425 139964425 + Missense_Mutation SNP G G A TCGA-CN-5367-01A-01D-1434-08 TCGA-CN-5367-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 57adb398-48c5-4a14-a43e-f79a19befbda 3c6ca4c1-7112-4c0c-9d21-b00717fcd4de g.chr4:139964425G>A uc003ihl.2 + 2 581 c.388G>A c.(388-390)GTG>ATG p.V130M CCRN4L_uc003ihk.1_Missense_Mutation_p.V130M NM_012118 NP_036250 Q9UK39 NOCT_HUMAN CCR4 carbon catabolite repression 4-like 130 rhythmic process|transcription from RNA polymerase II promoter nucleus sequence-specific DNA binding transcription factor activity ovary(1) 1 all_hematologic(180;0.162) GAGGGATTTTGTGGATCTGAG 0.547 NA 34 130 0 0 0 0 ZNF330 27309 broad.mit.edu 37 4 142147942 142147942 + Missense_Mutation SNP A A C TCGA-CN-5367-01A-01D-1434-08 TCGA-CN-5367-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 57adb398-48c5-4a14-a43e-f79a19befbda 3c6ca4c1-7112-4c0c-9d21-b00717fcd4de g.chr4:142147942A>C uc003iiq.3 + 5 453 c.233A>C c.(232-234)AAG>ACG p.K78T ZNF330_uc011chl.1_Missense_Mutation_p.K18T NM_014487 NP_055302 Q9Y3S2 ZN330_HUMAN zinc finger protein 330 78 C4-type 2 (Potential). chromosome, centromeric region|midbody|nucleolus protein binding|zinc ion binding 0 all_hematologic(180;0.162) TGCATGATGAAGTCTTCAGAC 0.388 NA 29 176 0 0 0 0 H2AFY 9555 broad.mit.edu 37 5 134724631 134724631 + Silent SNP G G A TCGA-CN-5367-01A-01D-1434-08 TCGA-CN-5367-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 57adb398-48c5-4a14-a43e-f79a19befbda 3c6ca4c1-7112-4c0c-9d21-b00717fcd4de g.chr5:134724631G>A uc003lam.1 - 2 363 c.153C>T c.(151-153)GCC>GCT p.A51A H2AFY_uc003lao.1_Silent_p.A51A|H2AFY_uc003lan.1_Silent_p.A51A|H2AFY_uc003lap.1_RNA|H2AFY_uc003laq.1_RNA|H2AFY_uc003lar.1_RNA|H2AFY_uc011cxz.1_Silent_p.A51A|H2AFY_uc003las.1_Silent_p.A51A|H2AFY_uc003lat.1_Silent_p.A51A NM_138610 NP_613258 O75367 H2AY_HUMAN H2A histone family, member Y isoform 3 51 Histone H2A. chromatin modification|dosage compensation|nucleosome assembly Barr body|nucleosome DNA binding 0 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233) ATTCCAGGACGGCGGCCATGT 0.532 NA 23 91 0 0 0 0 PCDHGA6 56109 broad.mit.edu 37 5 140755360 140755360 + Silent SNP C C T TCGA-CN-5367-01A-01D-1434-08 TCGA-CN-5367-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 57adb398-48c5-4a14-a43e-f79a19befbda 3c6ca4c1-7112-4c0c-9d21-b00717fcd4de g.chr5:140755360C>T uc003ljy.1 + 1 1710 c.1710C>T c.(1708-1710)GAC>GAT p.D570D PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc011dau.1_Silent_p.D570D NM_018919 NP_061742 Q9Y5G7 PCDG6_HUMAN protocadherin gamma subfamily A, 6 isoform 1 570 Extracellular (Potential).|Cadherin 6. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(1) 1 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TCCCCACAGACGGTTCCACTG 0.667 NA 48 168 0 0 0 0 LARP1 23367 broad.mit.edu 37 5 154179561 154179561 + Nonsense_Mutation SNP G G T TCGA-CN-5367-01A-01D-1434-08 TCGA-CN-5367-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 57adb398-48c5-4a14-a43e-f79a19befbda 3c6ca4c1-7112-4c0c-9d21-b00717fcd4de g.chr5:154179561G>T uc003lvp.2 + 10 2104 c.1675G>T c.(1675-1677)GAA>TAA p.E559* LARP1_uc003lvo.2_Nonsense_Mutation_p.E482*|LARP1_uc010jie.1_Nonsense_Mutation_p.E354* NM_033551 NP_291029 Q6PKG0 LARP1_HUMAN la related protein isoform 2 559 protein binding|RNA binding ovary(2)|pancreas(1)|skin(1) 4 Renal(175;0.00488) Medulloblastoma(196;0.0354)|all_neural(177;0.147) KIRC - Kidney renal clear cell carcinoma(527;0.00112) GAACTGGATTGAAGTGAAGAA 0.577 NA 20 58 7.45e-12 8.55e-12 1 0 HIST1H2AG 8969 broad.mit.edu 37 6 27101004 27101004 + Silent SNP C C T TCGA-CN-5367-01A-01D-1434-08 TCGA-CN-5367-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 57adb398-48c5-4a14-a43e-f79a19befbda 3c6ca4c1-7112-4c0c-9d21-b00717fcd4de g.chr6:27101004C>T uc003niw.2 + 1 188 c.154C>T c.(154-156)CTG>TTG p.L52L HIST1H2BJ_uc003niu.1_5'Flank|HIST1H2BJ_uc003niv.2_5'Flank NM_021064 NP_066408 P0C0S8 H2A1_HUMAN histone cluster 1, H2ag 52 nucleosome assembly nucleosome|nucleus DNA binding|enzyme binding 0 GCCGGTGTATCTGGCAGCGGT 0.677 NA 14 51 0 0 0 0 NKAPL 222698 broad.mit.edu 37 6 28227211 28227211 + Missense_Mutation SNP G G A TCGA-CN-5367-01A-01D-1434-08 TCGA-CN-5367-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 57adb398-48c5-4a14-a43e-f79a19befbda 3c6ca4c1-7112-4c0c-9d21-b00717fcd4de g.chr6:28227211G>A uc003nkt.2 + 1 114 c.62G>A c.(61-63)CGC>CAC p.R21H ZKSCAN4_uc011dlb.1_5'Flank NM_001007531 NP_001007532 Q5M9Q1 NKAPL_HUMAN NFKB activating protein-like 21 upper_aerodigestive_tract(1)|ovary(1) 2 AGAAGGCGACGCAGCTCCTCG 0.667 NA 5 73 0 0 0 0 ZNF323 64288 broad.mit.edu 37 6 28294189 28294189 + Silent SNP G G A TCGA-CN-5367-01A-01D-1434-08 TCGA-CN-5367-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 57adb398-48c5-4a14-a43e-f79a19befbda 3c6ca4c1-7112-4c0c-9d21-b00717fcd4de g.chr6:28294189G>A uc003nla.2 - 4 1375 c.975C>T c.(973-975)TGC>TGT p.C325C ZNF323_uc003nld.2_Silent_p.C325C|ZNF323_uc010jra.2_Silent_p.C325C|ZNF323_uc003nlb.2_Silent_p.C166C|ZNF323_uc010jrb.2_Silent_p.C166C|ZNF323_uc003nlc.2_Silent_p.C325C NM_001135216 NP_001128688 Q96LW9 ZN323_HUMAN zinc finger protein 323 325 C2H2-type 4. viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1)|skin(1) 2 CACACACTTTGCATTCATATG 0.493 NA 17 276 0 0 0 0 CD2AP 23607 broad.mit.edu 37 6 47471022 47471022 + Missense_Mutation SNP A A G TCGA-CN-5367-01A-01D-1434-08 TCGA-CN-5367-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 57adb398-48c5-4a14-a43e-f79a19befbda 3c6ca4c1-7112-4c0c-9d21-b00717fcd4de g.chr6:47471022A>G uc003oyw.2 + 2 467 c.11A>G c.(10-12)TAT>TGT p.Y4C NM_012120 NP_036252 Q9Y5K6 CD2AP_HUMAN CD2-associated protein 4 Interaction with ANLN and localization to the midbody.|SH3 1; truncated. cell division|mitosis|protein complex assembly|signal transduction|substrate-dependent cell migration, cell extension cytoplasm|filamentous actin|nucleolus|plasma membrane|ruffle SH3 domain binding|structural constituent of cytoskeleton ovary(1)|skin(1) 2 Lung(136;0.105)|LUSC - Lung squamous cell carcinoma(51;0.138) TTAGTTGACTATATTGTGGAG 0.318 NA 22 65 0 0 0 0 OGFRL1 79627 broad.mit.edu 37 6 72011631 72011631 + Missense_Mutation SNP C C T TCGA-CN-5367-01A-01D-1434-08 TCGA-CN-5367-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 57adb398-48c5-4a14-a43e-f79a19befbda 3c6ca4c1-7112-4c0c-9d21-b00717fcd4de g.chr6:72011631C>T uc003pfx.1 + 7 1398 c.1235C>T c.(1234-1236)ACT>ATT p.T412I NM_024576 NP_078852 Q5TC84 OGRL1_HUMAN opioid growth factor receptor-like 1 412 membrane receptor activity 0 AAAACAGTTACTACTCCCACA 0.423 NA 34 72 0 0 0 0 EPHA7 2045 broad.mit.edu 37 6 93982120 93982120 + Missense_Mutation SNP C C A TCGA-CN-5367-01A-01D-1434-08 TCGA-CN-5367-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 57adb398-48c5-4a14-a43e-f79a19befbda 3c6ca4c1-7112-4c0c-9d21-b00717fcd4de g.chr6:93982120C>A uc003poe.2 - 6 1586 c.1345G>T c.(1345-1347)GTA>TTA p.V449L EPHA7_uc003pof.2_Missense_Mutation_p.V449L|EPHA7_uc011eac.1_Missense_Mutation_p.V449L NM_004440 NP_004431 Q15375 EPHA7_HUMAN ephrin receptor EphA7 precursor 449 Extracellular (Potential).|Fibronectin type-III 2. integral to plasma membrane ATP binding|ephrin receptor activity lung(8)|ovary(7)|upper_aerodigestive_tract(3)|central_nervous_system(3)|skin(3)|large_intestine(2)|stomach(1)|pancreas(1) 28 all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142) BRCA - Breast invasive adenocarcinoma(108;0.0847) TCCTTCATTACTCCACTCACT 0.448 NA 10 180 4.69e-08 5.3e-08 1 0 FIG4 9896 broad.mit.edu 37 6 110037703 110037703 + Missense_Mutation SNP A A G TCGA-CN-5367-01A-01D-1434-08 TCGA-CN-5367-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 57adb398-48c5-4a14-a43e-f79a19befbda 3c6ca4c1-7112-4c0c-9d21-b00717fcd4de g.chr6:110037703A>G uc003ptt.2 + 3 436 c.221A>G c.(220-222)AAT>AGT p.N74S FIG4_uc011eau.1_Intron NM_014845 NP_055660 Q92562 FIG4_HUMAN Sac domain-containing inositol phosphatase 3 74 cell death endosome membrane protein binding ovary(1) 1 all_cancers(87;8.63e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.000124)|all_lung(197;0.0187)|Colorectal(196;0.0492)|Lung SC(18;0.0548) OV - Ovarian serous cystadenocarcinoma(136;0.0355)|Epithelial(106;0.038)|all cancers(137;0.0425)|BRCA - Breast invasive adenocarcinoma(108;0.079) GATCTTGGAAATAGAACAAAG 0.418 NA 41 160 0 0 0 0 REV3L 5980 broad.mit.edu 37 6 111689218 111689218 + Missense_Mutation SNP G G A TCGA-CN-5367-01A-01D-1434-08 TCGA-CN-5367-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 57adb398-48c5-4a14-a43e-f79a19befbda 3c6ca4c1-7112-4c0c-9d21-b00717fcd4de g.chr6:111689218G>A uc003puy.3 - 14 6096 c.5773C>T c.(5773-5775)CGG>TGG p.R1925W REV3L_uc003pux.3_Missense_Mutation_p.R1847W|REV3L_uc003puz.3_Missense_Mutation_p.R1847W|REV3L_uc003pva.1_RNA NM_002912 NP_002903 O60673 DPOLZ_HUMAN DNA polymerase zeta 1925 DNA-dependent DNA replication|translesion synthesis nucleus|zeta DNA polymerase complex DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding large_intestine(2)|ovary(2)|skin(2) 6 all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021) OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663) ATGAGGAGCCGTCCACCAATC 0.388 NA DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage 15 59 0 0 0 0 HSF2 3298 broad.mit.edu 37 6 122744792 122744792 + Silent SNP A A T TCGA-CN-5367-01A-01D-1434-08 TCGA-CN-5367-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 57adb398-48c5-4a14-a43e-f79a19befbda 3c6ca4c1-7112-4c0c-9d21-b00717fcd4de g.chr6:122744792A>T uc003pyu.2 + 10 1324 c.1137A>T c.(1135-1137)TCA>TCT p.S379S HSF2_uc003pyv.2_Silent_p.S379S NM_004506 NP_004497 Q03933 HSF2_HUMAN heat shock transcription factor 2 isoform a 379 Hydrophobic repeat HR-C. response to stress|transcription from RNA polymerase II promoter cytoplasm|nucleus sequence-specific DNA binding transcription factor activity|transcription coactivator activity 0 OV - Ovarian serous cystadenocarcinoma(136;0.00371)|all cancers(137;0.0299)|GBM - Glioblastoma multiforme(226;0.0586) CCATGCTATCAGGAAGACAAT 0.338 NA 5 179 0 0 0 0 VTA1 51534 broad.mit.edu 37 6 142525136 142525136 + Missense_Mutation SNP A A G TCGA-CN-5367-01A-01D-1434-08 TCGA-CN-5367-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 57adb398-48c5-4a14-a43e-f79a19befbda 3c6ca4c1-7112-4c0c-9d21-b00717fcd4de g.chr6:142525136A>G uc003qiw.2 + 7 727 c.712A>G c.(712-714)ACT>GCT p.T238A VTA1_uc011edt.1_RNA|VTA1_uc011edu.1_Intron NM_016485 NP_057569 Q9NP79 VTA1_HUMAN Vps20-associated 1 homolog 238 Interaction with VPS4B (By similarity). cellular membrane organization|endosome transport|protein transport cytosol|endosome membrane protein binding 0 Breast(32;0.155) OV - Ovarian serous cystadenocarcinoma(155;1.34e-05)|GBM - Glioblastoma multiforme(68;0.00182) AGCAAGTAATACTATCCAACC 0.383 NA 14 89 0 0 0 0 DNAH11 8701 broad.mit.edu 37 7 21747448 21747448 + Silent SNP T T C TCGA-CN-5367-01A-01D-1434-08 TCGA-CN-5367-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 57adb398-48c5-4a14-a43e-f79a19befbda 3c6ca4c1-7112-4c0c-9d21-b00717fcd4de g.chr7:21747448T>C uc003svc.2 + 41 6730 c.6699T>C c.(6697-6699)GAT>GAC p.D2233D NM_003777 NP_003768 Q96DT5 DYH11_HUMAN dynein, axonemal, heavy chain 11 2233 AAA 2 (By similarity). microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity ovary(8)|large_intestine(3)|pancreas(3)|central_nervous_system(1) 15 AATGGAAAGATGGCAAGTAGT 0.388 NA Kartagener_syndrome 22 39 0 0 0 0 PCLO 27445 broad.mit.edu 37 7 82582565 82582565 + Silent SNP A A C TCGA-CN-5367-01A-01D-1434-08 TCGA-CN-5367-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 57adb398-48c5-4a14-a43e-f79a19befbda 3c6ca4c1-7112-4c0c-9d21-b00717fcd4de g.chr7:82582565A>C uc003uhx.2 - 5 7993 c.7704T>G c.(7702-7704)TCT>TCG p.S2568S PCLO_uc003uhv.2_Silent_p.S2568S|PCLO_uc010lec.2_5'Flank NM_033026 NP_149015 Q9Y6V0 PCLO_HUMAN piccolo isoform 1 2499 cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity ovary(7) 7 ATCTTGGTGAAGACTTGTTGG 0.403 NA 53 135 0 0 0 0 CLDN15 24146 broad.mit.edu 37 7 100876196 100876196 + Splice_Site SNP C C A TCGA-CN-5367-01A-01D-1434-08 TCGA-CN-5367-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 57adb398-48c5-4a14-a43e-f79a19befbda 3c6ca4c1-7112-4c0c-9d21-b00717fcd4de g.chr7:100876196C>A uc003uyg.1 - 3 637 c.383_splice c.e3-1 p.G128_splice CLDN15_uc003uyh.1_Splice_Site_p.G128_splice NM_014343 NP_055158 P56746 CLD15_HUMAN claudin 15 calcium-independent cell-cell adhesion|tight junction assembly integral to membrane|tight junction identical protein binding|structural molecule activity ovary(1) 1 Lung NSC(181;0.168)|all_lung(186;0.215) CCGCAGATACCTGGGGACCGG 0.652 NA 3 23 2.56e-06 2.86e-06 1 0 MYL10 93408 broad.mit.edu 37 7 101256788 101256788 + Missense_Mutation SNP G G C TCGA-CN-5367-01A-01D-1434-08 TCGA-CN-5367-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 57adb398-48c5-4a14-a43e-f79a19befbda 3c6ca4c1-7112-4c0c-9d21-b00717fcd4de g.chr7:101256788G>C uc003uyr.2 - 8 826 c.648C>G c.(646-648)TGC>TGG p.C216W NM_138403 NP_612412 Q9BUA6 MYL10_HUMAN myosin, light chain 10, regulatory 216 EF-hand 3. mitochondrion calcium ion binding ovary(1)|breast(1) 2 TGATGACGTAGCACAGGTTTC 0.547 NA 6 143 0 0 0 0 FEZF1 389549 broad.mit.edu 37 7 121942225 121942225 + Silent SNP A A G TCGA-CN-5367-01A-01D-1434-08 TCGA-CN-5367-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 57adb398-48c5-4a14-a43e-f79a19befbda 3c6ca4c1-7112-4c0c-9d21-b00717fcd4de g.chr7:121942225A>G uc003vkd.2 - 4 1328 c.1254T>C c.(1252-1254)CAT>CAC p.H418H FEZF1_uc003vkc.2_Silent_p.H368H|uc010lko.1_5'Flank NM_001024613 NP_001019784 A0PJY2 FEZF1_HUMAN FEZ family zinc finger 1 isoform 1 418 C2H2-type 6. cell differentiation|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(2)|breast(1) 3 GCTTGCGGACATGCTTCTTGA 0.498 NA 8 104 0 0 0 0 EXOC4 60412 broad.mit.edu 37 7 133682355 133682355 + Missense_Mutation SNP C C T TCGA-CN-5367-01A-01D-1434-08 TCGA-CN-5367-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 57adb398-48c5-4a14-a43e-f79a19befbda 3c6ca4c1-7112-4c0c-9d21-b00717fcd4de g.chr7:133682355C>T uc003vrk.2 + 15 2352 c.2317C>T c.(2317-2319)CGC>TGC p.R773C EXOC4_uc011kpo.1_Missense_Mutation_p.R672C|EXOC4_uc003vrl.2_Missense_Mutation_p.R383C|EXOC4_uc011kpp.1_Missense_Mutation_p.R305C|EXOC4_uc011kpq.1_Missense_Mutation_p.R61C NM_021807 NP_068579 Q96A65 EXOC4_HUMAN SEC8 protein isoform a 773 vesicle docking involved in exocytosis exocyst protein N-terminus binding ovary(4)|large_intestine(3)|upper_aerodigestive_tract(1)|skin(1) 9 Esophageal squamous(399;0.129) TATGGCTGACCGCTGCTTGCT 0.488 NA 10 30 0 0 0 0 TTC26 79989 broad.mit.edu 37 7 138827003 138827003 + Silent SNP T T C TCGA-CN-5367-01A-01D-1434-08 TCGA-CN-5367-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 57adb398-48c5-4a14-a43e-f79a19befbda 3c6ca4c1-7112-4c0c-9d21-b00717fcd4de g.chr7:138827003T>C uc003vus.2 + 5 465 c.351T>C c.(349-351)GCT>GCC p.A117A TTC26_uc003vuq.2_Silent_p.A117A|TTC26_uc011kqm.1_Silent_p.A117A|TTC26_uc003vur.3_Silent_p.A117A|TTC26_uc011kqn.1_Silent_p.A117A|TTC26_uc011kqo.1_Silent_p.A86A|TTC26_uc011kqp.1_Silent_p.A12A|TTC26_uc003vut.2_5'UTR|TTC26_uc011kqq.1_Silent_p.A117A NM_024926 NP_079202 A0AVF1 TTC26_HUMAN tetratricopeptide repeat domain 26 isoform 1 117 TPR 2. binding ovary(1) 1 TTTTTTCAGCTTCAAAAAGCC 0.348 NA 40 106 0 0 0 0 MGAM 8972 broad.mit.edu 37 7 141708357 141708357 + Missense_Mutation SNP C C G TCGA-CN-5367-01A-01D-1434-08 TCGA-CN-5367-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 57adb398-48c5-4a14-a43e-f79a19befbda 3c6ca4c1-7112-4c0c-9d21-b00717fcd4de g.chr7:141708357C>G uc003vwy.2 + 3 233 c.179C>G c.(178-180)CCA>CGA p.P60R NM_004668 NP_004659 O43451 MGA_HUMAN maltase-glucoamylase 60 Ser/Thr-rich.|Lumenal (Potential). polysaccharide digestion|starch catabolic process apical plasma membrane|integral to membrane carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity ovary(2) 2 Melanoma(164;0.0272) Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878) ACTGGTACCCCAGATCCTGGA 0.483 NA 12 29 0 0 0 0 PRKDC 5591 broad.mit.edu 37 8 48868498 48868498 + Missense_Mutation SNP G G A TCGA-CN-5367-01A-01D-1434-08 TCGA-CN-5367-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 57adb398-48c5-4a14-a43e-f79a19befbda 3c6ca4c1-7112-4c0c-9d21-b00717fcd4de g.chr8:48868498G>A uc003xqi.2 - 4 392 c.335C>T c.(334-336)ACC>ATC p.T112I PRKDC_uc003xqj.2_Missense_Mutation_p.T112I|PRKDC_uc011ldh.1_Missense_Mutation_p.T112I NM_006904 NP_008835 P78527 PRKDC_HUMAN protein kinase, DNA-activated, catalytic 112 cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding lung(12)|central_nervous_system(9)|ovary(6)|skin(4)|large_intestine(3) 34 all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391) ATAAACACTGGTACAAGTGTT 0.308 NA NHEJ 4 32 0 0 0 0 SLCO5A1 81796 broad.mit.edu 37 8 70667779 70667779 + Missense_Mutation SNP T T C TCGA-CN-5367-01A-01D-1434-08 TCGA-CN-5367-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 57adb398-48c5-4a14-a43e-f79a19befbda 3c6ca4c1-7112-4c0c-9d21-b00717fcd4de g.chr8:70667779T>C uc003xyl.2 - 4 1845 c.1138A>G c.(1138-1140)AAA>GAA p.K380E SLCO5A1_uc010lzb.2_Missense_Mutation_p.K380E|SLCO5A1_uc011lfa.1_Intron|SLCO5A1_uc003xyk.2_Missense_Mutation_p.K380E|SLCO5A1_uc010lzc.2_Missense_Mutation_p.K380E NM_030958 NP_112220 Q9H2Y9 SO5A1_HUMAN solute carrier organic anion transporter family, 380 Cytoplasmic (Potential).|Poly-Lys. integral to membrane|plasma membrane transporter activity ovary(3)|upper_aerodigestive_tract(1) 4 Breast(64;0.0654) Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594) TTTTTCTTTTTCTTTTTCTTG 0.383 NA 8 105 0 0 0 0 HNRNPK 3190 broad.mit.edu 37 9 86587824 86587824 + Missense_Mutation SNP G G C TCGA-CN-5367-01A-01D-1434-08 TCGA-CN-5367-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 57adb398-48c5-4a14-a43e-f79a19befbda 3c6ca4c1-7112-4c0c-9d21-b00717fcd4de g.chr9:86587824G>C uc004ang.3 - 10 804 c.580C>G c.(580-582)CTT>GTT p.L194V HNRNPK_uc011lsw.1_5'UTR|HNRNPK_uc004and.3_5'UTR|HNRNPK_uc004ank.3_Missense_Mutation_p.L194V|HNRNPK_uc004anf.3_Missense_Mutation_p.L194V|HNRNPK_uc004anh.3_Missense_Mutation_p.L170V|HNRNPK_uc011lsx.1_Missense_Mutation_p.L170V|HNRNPK_uc004ani.3_Missense_Mutation_p.L194V|HNRNPK_uc004anj.3_Missense_Mutation_p.L194V|HNRNPK_uc004ann.3_Missense_Mutation_p.L170V|HNRNPK_uc004anl.3_Missense_Mutation_p.L194V|HNRNPK_uc004anm.3_Missense_Mutation_p.L194V NM_031262 NP_112552 P61978 HNRPK_HUMAN heterogeneous nuclear ribonucleoprotein K 194 5 X 4 AA repeats of G-X-G-G.|Necessary for interaction with DDX1.|2 X 22 AA approximate repeats.|Interaction with ASFV p30.|KH 2. interspecies interaction between organisms|positive regulation of low-density lipoprotein particle receptor biosynthetic process|positive regulation of receptor-mediated endocytosis|regulation of lipid transport by positive regulation of transcription from an RNA polymerase II promoter|regulation of low-density lipoprotein particle clearance|signal transduction catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nuclear chromatin|nucleoplasm protein binding|RNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|single-stranded DNA binding skin(1) 1 CCTCCAATAAGAACAACTCTG 0.343 NA 10 116 0 0 0 0 ZNF462 58499 broad.mit.edu 37 9 109688535 109688535 + Missense_Mutation SNP A A G TCGA-CN-5367-01A-01D-1434-08 TCGA-CN-5367-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 57adb398-48c5-4a14-a43e-f79a19befbda 3c6ca4c1-7112-4c0c-9d21-b00717fcd4de g.chr9:109688535A>G uc004bcz.2 + 3 2631 c.2342A>G c.(2341-2343)TAC>TGC p.Y781C ZNF462_uc010mto.2_Missense_Mutation_p.Y629C|ZNF462_uc004bda.2_Missense_Mutation_p.Y629C NM_021224 NP_067047 Q96JM2 ZN462_HUMAN zinc finger protein 462 781 transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(5) 5 ACCCACGATTACAATGCCACC 0.448 NA 6 99 0 0 0 0 LPAR1 1902 broad.mit.edu 37 9 113703901 113703901 + Missense_Mutation SNP A A G TCGA-CN-5367-01A-01D-1434-08 TCGA-CN-5367-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 57adb398-48c5-4a14-a43e-f79a19befbda 3c6ca4c1-7112-4c0c-9d21-b00717fcd4de g.chr9:113703901A>G uc004bfa.2 - 4 848 c.593T>C c.(592-594)ATG>ACG p.M198T LPAR1_uc011lwm.1_Missense_Mutation_p.M199T|LPAR1_uc004bfb.2_Missense_Mutation_p.M198T|LPAR1_uc004bfc.2_Missense_Mutation_p.M198T|LPAR1_uc011lwn.1_Missense_Mutation_p.M180T|LPAR1_uc011lwo.1_Missense_Mutation_p.M199T|LPAR1_uc010mub.2_Missense_Mutation_p.M198T NM_057159 NP_476500 Q92633 LPAR1_HUMAN lysophosphatidic acid receptor 1 198 Extracellular (Potential). positive regulation of I-kappaB kinase/NF-kappaB cascade cell surface|integral to plasma membrane ovary(2) 2 GAGGGGTGCCATGTTGGAACA 0.458 NA 90 67 0 0 0 0 PHKA2 5256 broad.mit.edu 37 X 18924612 18924612 + Splice_Site SNP C C T TCGA-CN-5367-01A-01D-1434-08 TCGA-CN-5367-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 57adb398-48c5-4a14-a43e-f79a19befbda 3c6ca4c1-7112-4c0c-9d21-b00717fcd4de g.chrX:18924612C>T uc004cyv.3 - 25 3236 c.2806_splice c.e25+1 p.G936_splice PHKA2_uc004cyu.3_Splice_Site_p.G234_splice|PHKA2_uc010nfe.1_5'Flank|PHKA2_uc010nff.1_5'Flank NM_000292 NP_000283 P46019 KPB2_HUMAN phosphorylase kinase, alpha 2 (liver) glucose metabolic process|glycogen catabolic process cytosol|phosphorylase kinase complex|plasma membrane calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity ovary(1)|central_nervous_system(1) 2 Hepatocellular(33;0.183) GGGCATCTCACCTGAGCAGTT 0.627 NA 24 55 0 0 0 0 PTCHD1 139411 broad.mit.edu 37 X 23398142 23398142 + Missense_Mutation SNP G G T TCGA-CN-5367-01A-01D-1434-08 TCGA-CN-5367-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 57adb398-48c5-4a14-a43e-f79a19befbda 3c6ca4c1-7112-4c0c-9d21-b00717fcd4de g.chrX:23398142G>T uc004dal.3 + 2 794 c.786G>T c.(784-786)CAG>CAT p.Q262H PTCHD1_uc010nfu.1_Missense_Mutation_p.Q262H NM_173495 NP_775766 Q96NR3 PTHD1_HUMAN patched domain containing 1 262 cognition|smoothened signaling pathway integral to membrane|plasma membrane hedgehog receptor activity ovary(4)|kidney(1)|skin(1) 6 AAGATTTCCAGAAGACCAGCC 0.522 NA 36 173 9.04e-19 1.05e-18 1 0 WNK3 65267 broad.mit.edu 37 X 54334451 54334451 + Silent SNP A A G TCGA-CN-5367-01A-01D-1434-08 TCGA-CN-5367-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 57adb398-48c5-4a14-a43e-f79a19befbda 3c6ca4c1-7112-4c0c-9d21-b00717fcd4de g.chrX:54334451A>G uc004dtd.1 - 5 1432 c.993T>C c.(991-993)GTT>GTC p.V331V WNK3_uc004dtc.1_Silent_p.V331V NM_001002838 NP_001002838 Q9BYP7 WNK3_HUMAN WNK lysine deficient protein kinase 3 isoform 2 331 Protein kinase. intracellular protein kinase cascade|positive regulation of establishment of protein localization in plasma membrane|positive regulation of peptidyl-threonine phosphorylation|positive regulation of rubidium ion transmembrane transporter activity|positive regulation of rubidium ion transport|positive regulation of sodium ion transmembrane transporter activity|positive regulation of sodium ion transport|protein autophosphorylation adherens junction|tight junction ATP binding|protein binding|protein serine/threonine kinase activity|rubidium ion transmembrane transporter activity|sodium ion transmembrane transporter activity lung(4)|ovary(3)|kidney(2)|central_nervous_system(2) 11 CAAAAGCATAAACATCTACGG 0.398 NA 7 75 0 0 0 0 SLC16A2 6567 broad.mit.edu 37 X 73740906 73740906 + Missense_Mutation SNP G G A TCGA-CN-5367-01A-01D-1434-08 TCGA-CN-5367-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 57adb398-48c5-4a14-a43e-f79a19befbda 3c6ca4c1-7112-4c0c-9d21-b00717fcd4de g.chrX:73740906G>A uc004ebt.2 + 2 900 c.734G>A c.(733-735)CGA>CAA p.R245Q NM_006517 NP_006508 P36021 MOT8_HUMAN solute carrier family 16, member 2 171 Cytoplasmic (Potential). integral to plasma membrane|membrane fraction monocarboxylic acid transmembrane transporter activity|symporter activity breast(2)|ovary(1) 3 Pyruvic acid(DB00119) TTGGGCTGCCGAATCACAGCA 0.537 NA 6 85 0 0 0 0 CYLC1 1538 broad.mit.edu 37 X 83128622 83128622 + Missense_Mutation SNP C C G TCGA-CN-5367-01A-01D-1434-08 TCGA-CN-5367-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 57adb398-48c5-4a14-a43e-f79a19befbda 3c6ca4c1-7112-4c0c-9d21-b00717fcd4de g.chrX:83128622C>G uc004eei.1 + 4 927 c.906C>G c.(904-906)GAC>GAG p.D302E CYLC1_uc004eeh.1_Missense_Mutation_p.D301E NM_021118 NP_066941 P35663 CYLC1_HUMAN cylicin, basic protein of sperm head 302 1 cell differentiation|multicellular organismal development|spermatogenesis acrosomal matrix|cytoskeletal calyx structural molecule activity ovary(4)|skin(1) 5 AATCTGAAGACTCAAAGGATG 0.323 NA 10 52 0 0 0 0 SPANXE 171489 broad.mit.edu 37 X 140786553 140786553 + Missense_Mutation SNP G G T TCGA-CN-5367-01A-01D-1434-08 TCGA-CN-5367-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 57adb398-48c5-4a14-a43e-f79a19befbda 3c6ca4c1-7112-4c0c-9d21-b00717fcd4de g.chrX:140786553G>T uc004fbq.2 - 1 103 c.10C>A c.(10-12)CAA>AAA p.Q4K NM_145665 NP_663698 Q8TAD1 SPNXE_HUMAN SPANX family, member E 4 cytoplasm|nucleus 0 Acute lymphoblastic leukemia(192;7.65e-05) GCACTGGATTGTTTGTCCATT 0.433 NA 43 184 3.37e-27 3.93e-27 1 0 FMR1 2332 broad.mit.edu 37 X 147026445 147026445 + Missense_Mutation SNP C C T TCGA-CN-5367-01A-01D-1434-08 TCGA-CN-5367-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 57adb398-48c5-4a14-a43e-f79a19befbda 3c6ca4c1-7112-4c0c-9d21-b00717fcd4de g.chrX:147026445C>T uc010nst.2 + 15 1717 c.1528C>T c.(1528-1530)CTC>TTC p.L510F FMR1_uc004fcj.2_Missense_Mutation_p.L487F|FMR1_uc004fck.3_Intron|FMR1_uc004fcl.3_Missense_Mutation_p.L350F|FMR1_uc011mxa.1_Missense_Mutation_p.L157F NM_002024 NP_002015 Q06787 FMR1_HUMAN fragile X mental retardation 1 510 Interaction with RANBP9. mRNA transport|negative regulation of translational initiation cytoplasm|mRNA cap binding complex|nucleolus|nucleoplasm|soluble fraction mRNA binding|protein binding ovary(2)|pancreas(1) 3 Acute lymphoblastic leukemia(192;6.56e-05) CAGAGACGAACTCAGTGATTG 0.388 NA Fragile_X_syndrome 3 59 0 0 0 0 SLC9A11 284525 broad.mit.edu 37 1 173552688 173552688 + Frame_Shift_Del DEL A A - TCGA-CN-5367-01A-01D-1434-08 TCGA-CN-5367-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 57adb398-48c5-4a14-a43e-f79a19befbda 3c6ca4c1-7112-4c0c-9d21-b00717fcd4de g.chr1:173552688delA uc001giz.2 - 6 1020 c.597delT c.(595-597)TTTfs p.F199fs SLC9A11_uc010pmq.1_RNA NM_178527 NP_848622 Q5TAH2 S9A11_HUMAN solute carrier family 9, member 11 199 Helical; (Potential). sodium ion transport integral to membrane ion channel activity|solute:hydrogen antiporter activity ovary(2) 2 GAAAATTTCCAAAAAAAATTG 0.279 NA 11 107 --- --- --- --- NA NA NA NA DCN 1634 broad.mit.edu 37 12 91558464 91558464 + Frame_Shift_Del DEL G G - TCGA-CN-5367-01A-01D-1434-08 TCGA-CN-5367-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 57adb398-48c5-4a14-a43e-f79a19befbda 3c6ca4c1-7112-4c0c-9d21-b00717fcd4de g.chr12:91558464delG uc001tbs.2 - 2 336 c.242delC c.(241-243)CCTfs p.P81fs DCN_uc001tbo.2_Intron|DCN_uc001tbp.2_Intron|DCN_uc001tbq.2_Frame_Shift_Del_p.P81fs|DCN_uc001tbr.2_Intron|DCN_uc001tbt.2_Frame_Shift_Del_p.P81fs|DCN_uc001tbu.2_Frame_Shift_Del_p.P81fs NM_133503 NP_598010 P07585 PGS2_HUMAN decorin isoform a preproprotein 81 LRR 1. organ morphogenesis extracellular space central_nervous_system(2)|ovary(1)|lung(1) 4 AGTTGTGTCAGGGGGAAGATC 0.403 NA 10 75 --- --- --- --- NA NA NA NA FBXO33 254170 broad.mit.edu 37 14 39871062 39871078 + Splice_Site DEL AATTCTATAAGGAAAAC AATTCTATAAGGAAAAC - TCGA-CN-5367-01A-01D-1434-08 TCGA-CN-5367-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 57adb398-48c5-4a14-a43e-f79a19befbda 3c6ca4c1-7112-4c0c-9d21-b00717fcd4de g.chr14:39871062_39871078delAATTCTATAAGGAAAAC uc001wvk.2 - 3 1049 c.711_splice c.e3-1 p.Q237_splice NM_203301 NP_976046 Q7Z6M2 FBX33_HUMAN F-box protein 33 0 Hepatocellular(127;0.213) LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00121)|Epithelial(34;0.169) GBM - Glioblastoma multiforme(112;0.0425) ACAGTTGCTGAATTCTATAAGGAAAACACATGCCACA 0.364 NA 22 85 --- --- --- --- NA NA NA NA ZNF513 130557 broad.mit.edu 37 2 27600905 27600905 + Frame_Shift_Del DEL T T - TCGA-CN-5367-01A-01D-1434-08 TCGA-CN-5367-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 57adb398-48c5-4a14-a43e-f79a19befbda 3c6ca4c1-7112-4c0c-9d21-b00717fcd4de g.chr2:27600905delT uc002rkk.2 - 4 1333 c.1133delA c.(1132-1134)CACfs p.H378fs ZNF513_uc002rkj.2_Frame_Shift_Del_p.H316fs NM_144631 NP_653232 Q8N8E2 ZN513_HUMAN zinc finger protein 513 378 C2H2-type 4. regulation of transcription, DNA-dependent|response to stimulus|retina development in camera-type eye|transcription, DNA-dependent|visual perception nucleus transcription regulatory region DNA binding|zinc ion binding ovary(1) 1 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) TGTCTTCATGTGCCGGGCCAG 0.622 NA 48 229 --- --- --- --- NA NA NA NA ALMS1 7840 broad.mit.edu 37 2 73678468 73678468 + Frame_Shift_Del DEL A A - TCGA-CN-5367-01A-01D-1434-08 TCGA-CN-5367-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 57adb398-48c5-4a14-a43e-f79a19befbda 3c6ca4c1-7112-4c0c-9d21-b00717fcd4de g.chr2:73678468delA uc002sje.1 + 10 4928 c.4817delA c.(4816-4818)GAAfs p.E1606fs ALMS1_uc002sjf.1_Frame_Shift_Del_p.E1562fs|ALMS1_uc002sjg.2_Frame_Shift_Del_p.E992fs|ALMS1_uc002sjh.1_Frame_Shift_Del_p.E992fs NM_015120 NP_055935 Q8TCU4 ALMS1_HUMAN Alstrom syndrome 1 1604 23.|34 X 47 AA approximate tandem repeat. G2/M transition of mitotic cell cycle centrosome|cilium|cytosol|microtubule basal body|spindle pole skin(3)|ovary(2)|breast(2)|pancreas(1)|lung(1) 9 GGACCTACTGAAAAAAAGACT 0.453 NA 11 138 --- --- --- --- NA NA NA NA HLA-F 3134 broad.mit.edu 37 6 29694802 29694803 + Frame_Shift_Ins INS - - T TCGA-CN-5367-01A-01D-1434-08 TCGA-CN-5367-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 57adb398-48c5-4a14-a43e-f79a19befbda 3c6ca4c1-7112-4c0c-9d21-b00717fcd4de g.chr6:29694802_29694803insT uc003nno.3 + 7 1303_1304 c.1179_1180insT c.(1177-1182)TTGTTTfs p.L393fs HLA-F_uc011dlx.1_Intron|HLA-F_uc011dly.1_Intron|LOC285830_uc003nnp.2_RNA|LOC285830_uc011dlz.1_RNA NM_001098479 NP_001091949 P30511 HLAF_HUMAN major histocompatibility complex, class I, F Error:Variant_position_missing_in_P30511_after_alignment antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|regulation of immune response|type I interferon-mediated signaling pathway integral to membrane|MHC class I protein complex MHC class I receptor activity 0 TGTGGATCTTGTTTTTTTTGTG 0.535 NA 7 401 --- --- --- --- NA NA NA NA C9orf172 389813 broad.mit.edu 37 9 139739061 139739062 + Frame_Shift_Ins INS - - A TCGA-CN-5367-01A-01D-1434-08 TCGA-CN-5367-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 57adb398-48c5-4a14-a43e-f79a19befbda 3c6ca4c1-7112-4c0c-9d21-b00717fcd4de g.chr9:139739061_139739062insA uc011meh.1 + 1 195_196 c.195_196insA c.(193-198)GAGACCfs p.E65fs NM_001080482 NP_001073951 C9J069 CI172_HUMAN chromosome 9 open reading frame 172 65_66 0 CGGCCATGGAGACCCTGCCGGA 0.708 NA 5 4 --- --- --- --- NA NA NA NA