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 ACHILLES_Top_Genes 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 pox_cutoff isArtifactMode oxoGCut GABRD 2563 broad.mit.edu 37 1 1961436 1961436 + Silent SNP C C T rs75511732 TCGA-38-4628-01A-01D-1265-08 TCGA-38-4628-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 67bc44b7-92cf-4e8f-a7f6-c53bf34a17c6 850c7f34-0d4a-4e8e-a9a3-c4563d4dcb04 g.chr1:1961436C>T uc001aip.2 + 9 1169 c.1074C>T c.(1072-1074)AAC>AAT p.N358N NM_000815 NP_000806 O14764 GBRD_HUMAN gamma-aminobutyric acid (GABA) A receptor, delta 358 Cytoplasmic (Probable). cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity ovary(1)|central_nervous_system(1)|skin(1) 3 all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;2.7e-19)|all_lung(118;1.22e-08)|Lung NSC(185;1.24e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128) Epithelial(90;2.19e-38)|OV - Ovarian serous cystadenocarcinoma(86;3.17e-24)|GBM - Glioblastoma multiforme(42;9.56e-08)|Colorectal(212;4.12e-05)|COAD - Colon adenocarcinoma(227;0.000194)|Kidney(185;0.00231)|BRCA - Breast invasive adenocarcinoma(365;0.00441)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0344)|Lung(427;0.2) ACGTGAGGAACGCCATTGTCC 0.687 NA 12 73 0 0 0.003163 0 0 CCDC28B 79140 broad.mit.edu 37 1 32667694 32667694 + Missense_Mutation SNP T T C TCGA-38-4628-01A-01D-1265-08 TCGA-38-4628-11A-01D-1265-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 67bc44b7-92cf-4e8f-a7f6-c53bf34a17c6 850c7f34-0d4a-4e8e-a9a3-c4563d4dcb04 g.chr1:32667694T>C uc001bul.1 + 2 290 c.158T>C c.(157-159)TTC>TCC p.F53S CCDC28B_uc001buk.2_Missense_Mutation_p.F53S NM_024296 NP_077272 Q9BUN5 CC28B_HUMAN coiled-coil domain containing 28B 53 0 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174) CGGGCCAAGTTCAAGAGGTGG 0.612 NA 10 47 0 0 0.006214 0 0 RSPO1 284654 broad.mit.edu 37 1 38082223 38082223 + Silent SNP G G A TCGA-38-4628-01A-01D-1265-08 TCGA-38-4628-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 67bc44b7-92cf-4e8f-a7f6-c53bf34a17c6 850c7f34-0d4a-4e8e-a9a3-c4563d4dcb04 g.chr1:38082223G>A uc001cbl.1 - 5 1007 c.219C>T c.(217-219)GGC>GGT p.G73G RSPO1_uc001cbm.1_Silent_p.G73G|RSPO1_uc009vvf.1_Silent_p.G46G|RSPO1_uc009vvg.1_Silent_p.G73G NM_001038633 NP_001033722 Q2MKA7 RSPO1_HUMAN R-spondin1 precursor 73 FU 1. positive regulation of canonical Wnt receptor signaling pathway|regulation of receptor internalization heparin binding 0 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164) GCAAGCAGACGCCCACCTGGC 0.622 GBM(122;680 2230 27822 42821) NA 16 151 0 0 0.006122 0 0 LRRC40 55631 broad.mit.edu 37 1 70625094 70625095 + Missense_Mutation DNP GC GC AT TCGA-38-4628-01A-01D-1265-08 TCGA-38-4628-11A-01D-1265-08 GC GC - - GC GC Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 67bc44b7-92cf-4e8f-a7f6-c53bf34a17c6 850c7f34-0d4a-4e8e-a9a3-c4563d4dcb04 g.chr1:70625094_70625095GC>AT uc001der.1 - 10 1190_1191 c.1138_1139GC>AT c.(1138-1140)GCT>ATT p.A380I NM_017768 NP_060238 Q9H9A6 LRC40_HUMAN leucine rich repeat containing 40 380 ovary(1) 1 AGTCTCAGTAGCAGACTCACTT 0.302 NA 5 38 0 0 0.004672 0 0 DNTTIP2 30836 broad.mit.edu 37 1 94342445 94342445 + Missense_Mutation SNP G G A TCGA-38-4628-01A-01D-1265-08 TCGA-38-4628-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 67bc44b7-92cf-4e8f-a7f6-c53bf34a17c6 850c7f34-0d4a-4e8e-a9a3-c4563d4dcb04 g.chr1:94342445G>A uc001dqf.2 - 2 1084 c.1046C>T c.(1045-1047)TCA>TTA p.S349L DNTTIP2_uc010otm.1_RNA|DNTTIP2_uc009wdo.1_Missense_Mutation_p.S144L NM_014597 NP_055412 Q5QJE6 TDIF2_HUMAN deoxynucleotidyltransferase, terminal, 349 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus 0 all_lung(203;0.0111)|Lung NSC(277;0.0347) all cancers(265;0.00679)|GBM - Glioblastoma multiforme(16;0.0278)|Epithelial(280;0.128) AGAGTGCACTGATACAGCATT 0.393 NA 14 86 0 0 0.00245 0 0 LOC728989 728989 broad.mit.edu 37 1 146493351 146493351 + Missense_Mutation SNP A A G rs141632041 by1000genomes TCGA-38-4628-01A-01D-1265-08 TCGA-38-4628-11A-01D-1265-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 67bc44b7-92cf-4e8f-a7f6-c53bf34a17c6 850c7f34-0d4a-4e8e-a9a3-c4563d4dcb04 g.chr1:146493351A>G uc001epd.2 - 5 636 c.562T>C c.(562-564)TGG>CGG p.W188R NR_024442 SubName: Full=cDNA FLJ59595, highly similar to Homo sapiens phosphodiesterase 4D interacting protein, transcript variant 1, mRNA; 0 TGAAGGAGCCACTCCTGTTTG 0.488 NA 3 42 0 0 0.000602 0 0 FLG2 388698 broad.mit.edu 37 1 152323784 152323784 + Missense_Mutation SNP A A T TCGA-38-4628-01A-01D-1265-08 TCGA-38-4628-11A-01D-1265-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 67bc44b7-92cf-4e8f-a7f6-c53bf34a17c6 850c7f34-0d4a-4e8e-a9a3-c4563d4dcb04 g.chr1:152323784A>T uc001ezw.3 - 3 6551 c.6478T>A c.(6478-6480)TCT>ACT p.S2160T uc001ezv.2_Intron NM_001014342 NP_001014364 Q5D862 FILA2_HUMAN filaggrin family member 2 2160 Filaggrin 10. calcium ion binding|structural molecule activity ovary(10)|skin(5)|upper_aerodigestive_tract(1)|breast(1) 17 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) CCATGACCAGACTGGCCATGT 0.512 NA 127 498 0 0 0.01441 0 0 LCE3C 353144 broad.mit.edu 37 1 152573217 152573217 + Missense_Mutation SNP C C A TCGA-38-4628-01A-01D-1265-08 TCGA-38-4628-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 67bc44b7-92cf-4e8f-a7f6-c53bf34a17c6 850c7f34-0d4a-4e8e-a9a3-c4563d4dcb04 g.chr1:152573217C>A uc001fac.2 + 1 80 c.10C>A c.(10-12)CAG>AAG p.Q4K NM_178434 NP_848521 Q5T5A8 LCE3C_HUMAN late cornified envelope 3C 4 keratinization 0 Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.206) UCEC - Uterine corpus endometrioid carcinoma (5;0.153)|KIRC - Kidney renal clear cell carcinoma(4;0.0313)|Kidney(5;0.0367) GATGTCCTGCCAGCAAAACCA 0.507 NA 55 641 1.95512e-22 2.62884e-22 0.01441 1 0 CRTC2 200186 broad.mit.edu 37 1 153927404 153927404 + Missense_Mutation SNP C C T TCGA-38-4628-01A-01D-1265-08 TCGA-38-4628-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 67bc44b7-92cf-4e8f-a7f6-c53bf34a17c6 850c7f34-0d4a-4e8e-a9a3-c4563d4dcb04 g.chr1:153927404C>T uc010ped.1 - 3 387 c.317G>A c.(316-318)CGG>CAG p.R106Q CRTC2_uc001fde.3_5'Flank|CRTC2_uc001fdf.3_5'Flank NM_181715 NP_859066 Q53ET0 CRTC2_HUMAN CREB regulated transcription coactivator 2 106 interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus protein binding ovary(2) 2 all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199) LUSC - Lung squamous cell carcinoma(543;0.151) TCGCTGCACCCGTTCCACCAG 0.567 NA 8 71 0 0 0.008291 0 0 FCRL3 115352 broad.mit.edu 37 1 157666998 157666998 + Nonsense_Mutation SNP C C T TCGA-38-4628-01A-01D-1265-08 TCGA-38-4628-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 67bc44b7-92cf-4e8f-a7f6-c53bf34a17c6 850c7f34-0d4a-4e8e-a9a3-c4563d4dcb04 g.chr1:157666998C>T uc001frb.2 - 6 1068 c.776G>A c.(775-777)TGG>TAG p.W259* FCRL3_uc001fqx.3_RNA|FCRL3_uc001fqy.3_RNA|FCRL3_uc001fqz.3_Nonsense_Mutation_p.W259*|FCRL3_uc009wsn.2_Intron|FCRL3_uc009wso.2_RNA|FCRL3_uc001fra.2_5'UTR|FCRL3_uc001frc.1_Nonsense_Mutation_p.W259* NM_052939 NP_443171 Q96P31 FCRL3_HUMAN Fc receptor-like 3 precursor 259 Ig-like C2-type 3.|Extracellular (Potential). integral to membrane|plasma membrane receptor activity ovary(3)|breast(1) 4 all_hematologic(112;0.0378) CACCTCACACCAGTAAGACCC 0.537 NA 21 130 0 0 0.014323 0 0 FMO4 2329 broad.mit.edu 37 1 171293296 171293296 + Missense_Mutation SNP C C T TCGA-38-4628-01A-01D-1265-08 TCGA-38-4628-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 67bc44b7-92cf-4e8f-a7f6-c53bf34a17c6 850c7f34-0d4a-4e8e-a9a3-c4563d4dcb04 g.chr1:171293296C>T uc001gho.2 + 5 558 c.341C>T c.(340-342)ACG>ATG p.T114M NM_002022 NP_002013 P31512 FMO4_HUMAN flavin containing monooxygenase 4 114 xenobiotic metabolic process integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding kidney(2)|skin(1) 3 all_cancers(6;3.9e-08)|all_hematologic(923;0.088)|Acute lymphoblastic leukemia(37;0.181) TGCAGCATAACGAAGCGTCCA 0.463 Pancreas(24;816 862 7754 7993 32832) NA 121 490 0 0 0.01441 0 0 CFHR5 81494 broad.mit.edu 37 1 196977743 196977743 + Missense_Mutation SNP C C A TCGA-38-4628-01A-01D-1265-08 TCGA-38-4628-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 67bc44b7-92cf-4e8f-a7f6-c53bf34a17c6 850c7f34-0d4a-4e8e-a9a3-c4563d4dcb04 g.chr1:196977743C>A uc001gts.3 + 10 1768 c.1640C>A c.(1639-1641)GCG>GAG p.A547E NM_030787 NP_110414 Q9BXR6 FHR5_HUMAN complement factor H-related 5 precursor 547 Sushi 9. complement activation, alternative pathway extracellular region breast(1)|skin(1) 2 CCACATAAAGCGATGATATCA 0.343 NA 11 142 1.61879e-10 2.00087e-10 0.013537 1 0 FMOD 2331 broad.mit.edu 37 1 203316507 203316507 + Missense_Mutation SNP G G T TCGA-38-4628-01A-01D-1265-08 TCGA-38-4628-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 67bc44b7-92cf-4e8f-a7f6-c53bf34a17c6 850c7f34-0d4a-4e8e-a9a3-c4563d4dcb04 g.chr1:203316507G>T uc001gzr.2 - 2 1028 c.892C>A c.(892-894)CTA>ATA p.L298I FMOD_uc010pqi.1_RNA NM_002023 NP_002014 Q06828 FMOD_HUMAN fibromodulin precursor 298 LRR 9. transforming growth factor beta receptor complex assembly extracellular space|proteinaceous extracellular matrix ovary(2)|breast(1) 3 BRCA - Breast invasive adenocarcinoma(75;0.171) GAGAGGTCTAGCTCAAGGAGG 0.567 NA 67 173 1.26778e-28 1.728e-28 0.01441 1 0 KCNK2 3776 broad.mit.edu 37 1 215259842 215259842 + Nonsense_Mutation SNP A A T TCGA-38-4628-01A-01D-1265-08 TCGA-38-4628-11A-01D-1265-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 67bc44b7-92cf-4e8f-a7f6-c53bf34a17c6 850c7f34-0d4a-4e8e-a9a3-c4563d4dcb04 g.chr1:215259842A>T uc001hkq.2 + 2 347 c.178A>T c.(178-180)AAG>TAG p.K60* KCNK2_uc001hko.2_Nonsense_Mutation_p.K56*|KCNK2_uc009xdm.2_RNA|KCNK2_uc001hkp.2_RNA|KCNK2_uc010pua.1_RNA|KCNK2_uc001hkr.3_Nonsense_Mutation_p.K45* NM_001017425 NP_001017425 O95069 KCNK2_HUMAN potassium channel, subfamily K, member 2 isoform 60 Cytoplasmic (Potential). outward rectifier potassium channel activity 0 OV - Ovarian serous cystadenocarcinoma(81;0.0399)|all cancers(67;0.0556)|GBM - Glioblastoma multiforme(131;0.068) Dofetilide(DB00204) TATGAAATGGAAGACGGTCTC 0.512 NA 52 54 0 0 0.01441 0 0 FMN2 56776 broad.mit.edu 37 1 240371640 240371640 + Silent SNP G G A TCGA-38-4628-01A-01D-1265-08 TCGA-38-4628-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 67bc44b7-92cf-4e8f-a7f6-c53bf34a17c6 850c7f34-0d4a-4e8e-a9a3-c4563d4dcb04 g.chr1:240371640G>A uc010pyd.1 + 5 3753 c.3528G>A c.(3526-3528)CCG>CCA p.P1176P FMN2_uc010pye.1_Silent_p.P1180P NM_020066 NP_064450 Q9NZ56 FMN2_HUMAN formin 2 1176 Pro-rich.|FH1. actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions actin binding ovary(4)|pancreas(3)|skin(3)|large_intestine(1)|central_nervous_system(1) 12 Ovarian(103;0.127) all_cancers(173;0.013) OV - Ovarian serous cystadenocarcinoma(106;0.0106) TACCCCCTCCGCCCCCTCTAC 0.687 NA 7 8 0 0 0.00308 0 0 SFMBT2 57713 broad.mit.edu 37 10 7262456 7262456 + Missense_Mutation SNP G G T TCGA-38-4628-01A-01D-1265-08 TCGA-38-4628-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 67bc44b7-92cf-4e8f-a7f6-c53bf34a17c6 850c7f34-0d4a-4e8e-a9a3-c4563d4dcb04 g.chr10:7262456G>T uc009xio.1 - 11 1338 c.1247C>A c.(1246-1248)GCT>GAT p.A416D SFMBT2_uc001ijn.1_Missense_Mutation_p.A416D|SFMBT2_uc010qay.1_Intron NM_001029880 NP_001025051 Q5VUG0 SMBT2_HUMAN Scm-like with four mbt domains 2 416 MBT 4. regulation of transcription, DNA-dependent nucleus ovary(4)|upper_aerodigestive_tract(2)|large_intestine(1)|central_nervous_system(1) 8 GGGGTTCACAGCTTCAAGTTT 0.532 NA 102 74 8.32725e-61 1.15883e-60 0.01441 1 0 GPR158 57512 broad.mit.edu 37 10 25887829 25887829 + Missense_Mutation SNP A A G TCGA-38-4628-01A-01D-1265-08 TCGA-38-4628-11A-01D-1265-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 67bc44b7-92cf-4e8f-a7f6-c53bf34a17c6 850c7f34-0d4a-4e8e-a9a3-c4563d4dcb04 g.chr10:25887829A>G uc001isj.2 + 11 3334 c.3274A>G c.(3274-3276)ACT>GCT p.T1092A GPR158_uc001isk.2_Missense_Mutation_p.T467A NM_020752 NP_065803 Q5T848 GP158_HUMAN G protein-coupled receptor 158 precursor 1092 Cytoplasmic (Potential). integral to membrane|plasma membrane G-protein coupled receptor activity ovary(4)|large_intestine(2)|pancreas(1)|skin(1) 8 GATTTCCAAGACTCCAGTTCT 0.517 NA 88 54 0 0 0.01441 0 0 C10orf58 84293 broad.mit.edu 37 10 82180281 82180281 + Missense_Mutation SNP G G A TCGA-38-4628-01A-01D-1265-08 TCGA-38-4628-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 67bc44b7-92cf-4e8f-a7f6-c53bf34a17c6 850c7f34-0d4a-4e8e-a9a3-c4563d4dcb04 g.chr10:82180281G>A uc001kcc.3 + 2 218 c.58G>A c.(58-60)GGA>AGA p.G20R C10orf58_uc001kcd.3_Missense_Mutation_p.G9R|C10orf58_uc001kce.3_Missense_Mutation_p.G20R|C10orf58_uc001kcf.3_Missense_Mutation_p.G20R NM_032333 NP_115709 Q9BRX8 CJ058_HUMAN hypothetical protein LOC84293 precursor 20 extracellular region 0 Colorectal(32;0.229) CATTGGTGCAGGAGCCCTGGG 0.547 NA 5 129 0 0 0.000602 0 0 OBFC1 79991 broad.mit.edu 37 10 105657388 105657388 + Missense_Mutation SNP A A C TCGA-38-4628-01A-01D-1265-08 TCGA-38-4628-11A-01D-1265-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 67bc44b7-92cf-4e8f-a7f6-c53bf34a17c6 850c7f34-0d4a-4e8e-a9a3-c4563d4dcb04 g.chr10:105657388A>C uc001kxl.2 - 6 746 c.671T>G c.(670-672)TTT>TGT p.F224C OBFC1_uc001kxm.2_Missense_Mutation_p.F224C|OBFC1_uc001kxn.2_RNA NM_024928 NP_079204 Q9H668 STN1_HUMAN oligonucleotide/oligosaccharide-binding fold 224 positive regulation of DNA replication|telomere maintenance via telomere lengthening protein binding|single-stranded telomeric DNA binding ovary(1) 1 Colorectal(252;0.178) Epithelial(162;3.39e-10)|all cancers(201;1.32e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0151) CTGCTGGTAAAAGCTCTGCAC 0.547 NA 73 36 0 0 0.01441 0 0 OR52M1 119772 broad.mit.edu 37 11 4566720 4566720 + Missense_Mutation SNP G G T TCGA-38-4628-01A-01D-1265-08 TCGA-38-4628-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 67bc44b7-92cf-4e8f-a7f6-c53bf34a17c6 850c7f34-0d4a-4e8e-a9a3-c4563d4dcb04 g.chr11:4566720G>T uc010qyf.1 + 1 300 c.300G>T c.(298-300)TTG>TTT p.L100F NM_001004137 NP_001004137 Q8NGK5 O52M1_HUMAN olfactory receptor, family 52, subfamily M, 100 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577) Epithelial(150;8.45e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19) ACGCCTGCTTGGGCCAAATGT 0.517 NA 19 142 6.33239e-15 8.29043e-15 0.010504 1 0 ANO5 203859 broad.mit.edu 37 11 22281108 22281108 + Missense_Mutation SNP G G A TCGA-38-4628-01A-01D-1265-08 TCGA-38-4628-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 67bc44b7-92cf-4e8f-a7f6-c53bf34a17c6 850c7f34-0d4a-4e8e-a9a3-c4563d4dcb04 g.chr11:22281108G>A uc001mqi.2 + 15 1768 c.1451G>A c.(1450-1452)CGC>CAC p.R484H ANO5_uc001mqj.2_Missense_Mutation_p.R483H NM_213599 NP_998764 Q75V66 ANO5_HUMAN anoctamin 5 isoform a 484 Extracellular (Potential). chloride channel complex|endoplasmic reticulum membrane chloride channel activity central_nervous_system(3)|ovary(1) 4 ATTGTGTACCGCCTGTCAGTC 0.413 NA 18 108 0 0 0.012319 0 0 TRAF6 7189 broad.mit.edu 37 11 36520069 36520069 + Silent SNP A A G TCGA-38-4628-01A-01D-1265-08 TCGA-38-4628-11A-01D-1265-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 67bc44b7-92cf-4e8f-a7f6-c53bf34a17c6 850c7f34-0d4a-4e8e-a9a3-c4563d4dcb04 g.chr11:36520069A>G uc001mwr.1 - 4 758 c.418T>C c.(418-420)TTG>CTG p.L140L TRAF6_uc001mws.1_Silent_p.L140L NM_145803 NP_665802 Q9Y4K3 TRAF6_HUMAN TNF receptor-associated factor 6 140 Interaction with TAX1BP1. activation of MAPK activity|activation of NF-kappaB-inducing kinase activity|anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|membrane protein intracellular domain proteolysis|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|ossification|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-2 production|positive regulation of JUN kinase activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of osteoclast differentiation|positive regulation of T cell cytokine production|protein autoubiquitination|protein K63-linked ubiquitination|response to interleukin-1|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway CD40 receptor complex|cell cortex|cytosol|endosome membrane|internal side of plasma membrane|nuclear membrane histone deacetylase binding|mitogen-activated protein kinase kinase kinase binding|protein kinase B binding|protein N-terminus binding|ubiquitin-protein ligase activity|zinc ion binding ovary(1) 1 all_lung(20;0.211) all_hematologic(20;0.107) ATCTTGTGCAAACAACCTTCA 0.303 NA 40 130 0 0 0.01441 0 0 MAPK8IP1 9479 broad.mit.edu 37 11 45926281 45926281 + Missense_Mutation SNP C C T TCGA-38-4628-01A-01D-1265-08 TCGA-38-4628-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 67bc44b7-92cf-4e8f-a7f6-c53bf34a17c6 850c7f34-0d4a-4e8e-a9a3-c4563d4dcb04 g.chr11:45926281C>T uc001nbr.2 + 9 1959 c.1789C>T c.(1789-1791)CGC>TGC p.R597C NM_005456 NP_005447 Q9UQF2 JIP1_HUMAN mitogen-activated protein kinase 8 interacting 597 PID. vesicle-mediated transport nucleus|perinuclear region of cytoplasm kinesin binding|MAP-kinase scaffold activity|protein kinase inhibitor activity ovary(2)|breast(1)|skin(1) 4 GBM - Glioblastoma multiforme(35;0.231) TGCCACCACCCGCCGGCTCAC 0.612 NA 23 86 0 0 0.005443 0 0 OR4A47 403253 broad.mit.edu 37 11 48510483 48510483 + Missense_Mutation SNP G G A rs142333570 byFrequency TCGA-38-4628-01A-01D-1265-08 TCGA-38-4628-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 67bc44b7-92cf-4e8f-a7f6-c53bf34a17c6 850c7f34-0d4a-4e8e-a9a3-c4563d4dcb04 g.chr11:48510483G>A uc010rhx.1 + 1 139 c.139G>A c.(139-141)GTA>ATA p.V47I NM_001005512 NP_001005512 Q6IF82 O4A47_HUMAN olfactory receptor, family 4, subfamily A, 47 Helical; Name=1; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|skin(1) 2 TGTAGTGACCGTAACTGTCAG 0.418 NA 22 18 0 0 0.005443 0 0 GLYATL1 92292 broad.mit.edu 37 11 58723260 58723260 + Missense_Mutation SNP G G T TCGA-38-4628-01A-01D-1265-08 TCGA-38-4628-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 67bc44b7-92cf-4e8f-a7f6-c53bf34a17c6 850c7f34-0d4a-4e8e-a9a3-c4563d4dcb04 g.chr11:58723260G>T uc001nnf.2 + 8 1045 c.669G>T c.(667-669)ATG>ATT p.M223I uc001nng.1_Intron|GLYATL1_uc001nnh.1_Missense_Mutation_p.M254I|GLYATL1_uc001nni.1_Missense_Mutation_p.M223I|GLYATL1_uc001nnj.1_Missense_Mutation_p.M223I Q969I3 GLYL1_HUMAN SubName: Full=Glycine acyltransferase family-C; SubName: Full=Glycine-N-acyltransferase-like 1, isoform CRA_a; 223 mitochondrion glycine N-acyltransferase activity ovary(1) 1 Glycine(DB00145) GGGTAACCATGGACCCTTCTT 0.522 NA 13 39 1.61879e-10 2.00087e-10 0.013537 1 0 FAM111B 374393 broad.mit.edu 37 11 58892054 58892054 + Missense_Mutation SNP C C G TCGA-38-4628-01A-01D-1265-08 TCGA-38-4628-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 67bc44b7-92cf-4e8f-a7f6-c53bf34a17c6 850c7f34-0d4a-4e8e-a9a3-c4563d4dcb04 g.chr11:58892054C>G uc001nnl.2 + 4 727 c.484C>G c.(484-486)CAA>GAA p.Q162E FAM111B_uc001nnm.2_Missense_Mutation_p.Q132E|FAM111B_uc010rko.1_Missense_Mutation_p.Q132E NM_198947 NP_945185 Q6SJ93 F111B_HUMAN hypothetical protein LOC374393 isoform a 162 catalytic activity ovary(2) 2 TACATTTGGTCAAAGAAAGAG 0.338 NA 4 51 0 0 0.009096 0 0 NPAS4 266743 broad.mit.edu 37 11 66189606 66189606 + Missense_Mutation SNP G G T TCGA-38-4628-01A-01D-1265-08 TCGA-38-4628-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 67bc44b7-92cf-4e8f-a7f6-c53bf34a17c6 850c7f34-0d4a-4e8e-a9a3-c4563d4dcb04 g.chr11:66189606G>T uc001ohx.1 + 2 367 c.191G>T c.(190-192)GGC>GTC p.G64V NPAS4_uc010rpc.1_5'UTR NM_178864 NP_849195 Q8IUM7 NPAS4_HUMAN neuronal PAS domain protein 4 64 transcription, DNA-dependent DNA binding|signal transducer activity 0 CCTCTGGCGGGCCCCACGGGG 0.572 NA 11 65 1.61879e-10 2.00087e-10 0.013537 1 0 CCDC87 55231 broad.mit.edu 37 11 66359594 66359594 + Missense_Mutation SNP G G A TCGA-38-4628-01A-01D-1265-08 TCGA-38-4628-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 67bc44b7-92cf-4e8f-a7f6-c53bf34a17c6 850c7f34-0d4a-4e8e-a9a3-c4563d4dcb04 g.chr11:66359594G>A uc001oiq.3 - 1 961 c.893C>T c.(892-894)TCC>TTC p.S298F CCS_uc001oir.2_5'Flank NM_018219 NP_060689 Q9NVE4 CCD87_HUMAN coiled-coil domain containing 87 298 ovary(1)|skin(1) 2 AGGCGAGGGGGAAGCCCTGCT 0.617 NA 37 133 0 0 0.004878 0 0 NUMA1 4926 broad.mit.edu 37 11 71719881 71719881 + Missense_Mutation SNP G G C TCGA-38-4628-01A-01D-1265-08 TCGA-38-4628-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 67bc44b7-92cf-4e8f-a7f6-c53bf34a17c6 850c7f34-0d4a-4e8e-a9a3-c4563d4dcb04 g.chr11:71719881G>C uc001orl.1 - 20 5241 c.5069C>G c.(5068-5070)GCA>GGA p.A1690G NUMA1_uc001orj.2_5'UTR|NUMA1_uc009ysw.1_Missense_Mutation_p.A1239G|NUMA1_uc001ork.1_Missense_Mutation_p.A554G|NUMA1_uc001orm.1_Missense_Mutation_p.A1676G|NUMA1_uc001orn.2_Missense_Mutation_p.A1253G NM_006185 NP_006176 Q14980 NUMA1_HUMAN nuclear mitotic apparatus protein 1 1690 Potential. G2/M transition of mitotic cell cycle|mitotic anaphase|nucleus organization chromosome|cytosol|nucleoplasm|spindle microtubule|spindle pole protein binding|structural molecule activity ovary(3)|lung(2)|skin(2)|central_nervous_system(1) 8 CTGCTGGTCTGCATGGGCAAC 0.577 NA T RARA APL 13 161 0 0 0.004007 0 0 DPAGT1 1798 broad.mit.edu 37 11 118971518 118971518 + Silent SNP G G A TCGA-38-4628-01A-01D-1265-08 TCGA-38-4628-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 67bc44b7-92cf-4e8f-a7f6-c53bf34a17c6 850c7f34-0d4a-4e8e-a9a3-c4563d4dcb04 g.chr11:118971518G>A uc001pvi.2 - 3 738 c.318C>T c.(316-318)TGC>TGT p.C106C DPAGT1_uc001pvj.2_5'UTR|DPAGT1_uc009zaq.2_RNA|DPAGT1_uc001pvk.2_Intron|DPAGT1_uc010ryz.1_Silent_p.C106C|DPAGT1_uc001pvm.1_5'UTR|DPAGT1_uc010rza.1_5'UTR NM_001382 NP_001373 Q9H3H5 GPT_HUMAN UDP-N-acetylglucosamine-dolichyl-phosphate 106 Helical; (Potential). dolichol biosynthetic process|dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine|protein oligomerization integral to endoplasmic reticulum membrane|microsome phospho-N-acetylmuramoyl-pentapeptide-transferase activity|transferase activity, transferring glycosyl groups|UDP-N-acetylglucosamine-dolichyl-phosphate N-acetylglucosaminephosphotransferase activity breast(2)|ovary(1) 3 all_hematologic(175;0.0977) Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;7.55e-05) AGATCATGCAGCAGATGGCAA 0.557 NA OREG0021396 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 12 52 0 0 0.00245 0 0 C11orf63 79864 broad.mit.edu 37 11 122805201 122805201 + Missense_Mutation SNP T T C TCGA-38-4628-01A-01D-1265-08 TCGA-38-4628-11A-01D-1265-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 67bc44b7-92cf-4e8f-a7f6-c53bf34a17c6 850c7f34-0d4a-4e8e-a9a3-c4563d4dcb04 g.chr11:122805201T>C uc001pym.2 + 5 1349 c.1052T>C c.(1051-1053)ATG>ACG p.M351T NM_024806 NP_079082 Q6NUN7 CK063_HUMAN hypothetical protein LOC79864 isoform 1 351 ovary(3) 3 Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.018)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;5.34e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0311) CCTTCTGACATGGTGAATGAC 0.418 NA 3 36 0 0 0.004672 0 0 PTPN6 5777 broad.mit.edu 37 12 7060825 7060825 + Missense_Mutation SNP G G T TCGA-38-4628-01A-01D-1265-08 TCGA-38-4628-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 67bc44b7-92cf-4e8f-a7f6-c53bf34a17c6 850c7f34-0d4a-4e8e-a9a3-c4563d4dcb04 g.chr12:7060825G>T uc001qsb.2 + 2 304 c.62G>T c.(61-63)CGA>CTA p.R21L PTPN6_uc001qsa.1_Missense_Mutation_p.R23L|PTPN6_uc010sfr.1_Intron|PTPN6_uc009zfl.1_Missense_Mutation_p.R21L|PTPN6_uc010sfs.1_5'UTR NM_002831 NP_002822 P29350 PTN6_HUMAN protein tyrosine phosphatase, non-receptor type 21 SH2 1. apoptosis|cell junction assembly|G-protein coupled receptor protein signaling pathway|interferon-gamma-mediated signaling pathway|leukocyte migration|negative regulation of peptidyl-tyrosine phosphorylation|platelet activation|positive regulation of cell proliferation|positive regulation of phosphatidylinositol 3-kinase cascade|regulation of G1/S transition of mitotic cell cycle|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|T cell costimulation|type I interferon-mediated signaling pathway cytosol|membrane|nucleus protein binding|protein tyrosine phosphatase activity breast(1) 1 CTCAAGGGCCGAGGTGTCCAC 0.672 NA 12 86 0.000151284 0.000168188 0.001855 1 0 PDZRN4 29951 broad.mit.edu 37 12 41587896 41587896 + Missense_Mutation SNP G G A TCGA-38-4628-01A-01D-1265-08 TCGA-38-4628-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 67bc44b7-92cf-4e8f-a7f6-c53bf34a17c6 850c7f34-0d4a-4e8e-a9a3-c4563d4dcb04 g.chr12:41587896G>A uc010skn.1 + 3 220 c.152G>A c.(151-153)GGA>GAA p.G51E NM_013377 NP_037509 Q6ZMN7 PZRN4_HUMAN PDZ domain containing RING finger 4 isoform 2 250 PDZ 1. ubiquitin-protein ligase activity|zinc ion binding lung(3)|skin(3)|ovary(2)|large_intestine(1)|kidney(1)|pancreas(1) 11 all_cancers(12;0.000673) Lung NSC(34;0.0205)|all_lung(34;0.0264) AATCAGGAAGGAACATCGACT 0.318 NA 6 48 0 0 0.001168 0 0 TUBA1C 84790 broad.mit.edu 37 12 49666727 49666727 + Missense_Mutation SNP A A G TCGA-38-4628-01A-01D-1265-08 TCGA-38-4628-11A-01D-1265-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 67bc44b7-92cf-4e8f-a7f6-c53bf34a17c6 850c7f34-0d4a-4e8e-a9a3-c4563d4dcb04 g.chr12:49666727A>G uc001rtt.1 + 4 1167 c.1067A>G c.(1066-1068)AAT>AGT p.N356S TUBA1C_uc001rts.2_Missense_Mutation_p.N321S|TUBA1C_uc010smh.1_Missense_Mutation_p.N426S|uc010smi.1_5'UTR NM_032704 NP_116093 Q9BQE3 TBA1C_HUMAN tubulin alpha 6 356 'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization cytoplasm|microtubule GTP binding|GTPase activity|protein binding|structural molecule activity 0 GTTGGCATTAATTACCAGCCT 0.552 NA 8 76 0 0 0.004482 0 0 EIF4B 1975 broad.mit.edu 37 12 53412608 53412608 + Missense_Mutation SNP G G A TCGA-38-4628-01A-01D-1265-08 TCGA-38-4628-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 67bc44b7-92cf-4e8f-a7f6-c53bf34a17c6 850c7f34-0d4a-4e8e-a9a3-c4563d4dcb04 g.chr12:53412608G>A uc001sbh.3 + 3 384 c.178G>A c.(178-180)GAC>AAC p.D60N EIF4B_uc009zmp.1_RNA|EIF4B_uc010snu.1_Missense_Mutation_p.D60N|EIF4B_uc010snv.1_Missense_Mutation_p.D60N|EIF4B_uc001sbi.2_5'UTR NM_001417 NP_001408 P23588 IF4B_HUMAN eukaryotic translation initiation factor 4B 60 insulin receptor signaling pathway|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation cytosol|eukaryotic translation initiation factor 4F complex nucleotide binding|translation initiation factor activity breast(1)|kidney(1) 2 CAGTAACGATGACGATGTGTA 0.493 NA 70 165 0 0 0.01441 0 0 DPY19L2 283417 broad.mit.edu 37 12 64055199 64055199 + Missense_Mutation SNP C C A TCGA-38-4628-01A-01D-1265-08 TCGA-38-4628-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 67bc44b7-92cf-4e8f-a7f6-c53bf34a17c6 850c7f34-0d4a-4e8e-a9a3-c4563d4dcb04 g.chr12:64055199C>A uc001srp.1 - 4 694 c.513G>T c.(511-513)TGG>TGT p.W171C DPY19L2_uc009zqk.1_RNA NM_173812 NP_776173 Q6NUT2 D19L2_HUMAN dpy-19-like 2 171 Helical; (Potential). multicellular organismal development|spermatid development integral to membrane central_nervous_system(1)|skin(1) 2 GBM - Glioblastoma multiforme(1;2.77e-05) GBM - Glioblastoma multiforme(28;0.044) TCATAATCATCCACAGTCCTT 0.303 NA 13 267 1.3612e-06 1.55678e-06 0.003163 1 0 LRRIQ1 84125 broad.mit.edu 37 12 85450634 85450634 + Missense_Mutation SNP G G A TCGA-38-4628-01A-01D-1265-08 TCGA-38-4628-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 67bc44b7-92cf-4e8f-a7f6-c53bf34a17c6 850c7f34-0d4a-4e8e-a9a3-c4563d4dcb04 g.chr12:85450634G>A uc001tac.2 + 8 2174 c.2063G>A c.(2062-2064)AGT>AAT p.S688N LRRIQ1_uc001tab.1_Missense_Mutation_p.S688N|LRRIQ1_uc001taa.1_Missense_Mutation_p.S663N NM_001079910 NP_001073379 Q96JM4 LRIQ1_HUMAN leucine-rich repeats and IQ motif containing 1 688 ovary(4)|central_nervous_system(1)|skin(1) 6 GBM - Glioblastoma multiforme(134;0.212) GAGGGCTTGAGTAACTATAAT 0.338 NA 28 108 0 0 0.00632 0 0 ATP8A2 51761 broad.mit.edu 37 13 26343230 26343230 + Silent SNP C C A TCGA-38-4628-01A-01D-1265-08 TCGA-38-4628-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 67bc44b7-92cf-4e8f-a7f6-c53bf34a17c6 850c7f34-0d4a-4e8e-a9a3-c4563d4dcb04 g.chr13:26343230C>A uc001uqk.2 + 26 2573 c.2431C>A c.(2431-2433)CGG>AGG p.R811R ATP8A2_uc010tdi.1_Silent_p.R771R|ATP8A2_uc010tdj.1_RNA|ATP8A2_uc010aaj.1_Silent_p.R361R NM_016529 NP_057613 Q9NTI2 AT8A2_HUMAN ATPase, aminophospholipid transporter-like, 771 Cytoplasmic (Potential). ATP biosynthetic process|negative regulation of cell proliferation integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity ovary(2)|large_intestine(1)|skin(1) 4 Breast(139;0.0201)|Lung SC(185;0.0225) all cancers(112;0.043)|OV - Ovarian serous cystadenocarcinoma(117;0.0748)|Epithelial(112;0.079) GGTGAAGAAGCGGGTGAAGGC 0.537 NA 28 49 2.65835e-16 3.55041e-16 0.007291 1 0 ELF1 1997 broad.mit.edu 37 13 41507961 41507961 + Missense_Mutation SNP T T A TCGA-38-4628-01A-01D-1265-08 TCGA-38-4628-11A-01D-1265-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 67bc44b7-92cf-4e8f-a7f6-c53bf34a17c6 850c7f34-0d4a-4e8e-a9a3-c4563d4dcb04 g.chr13:41507961T>A uc001uxs.2 - 9 1833 c.1460A>T c.(1459-1461)CAG>CTG p.Q487L ELF1_uc010tfc.1_Missense_Mutation_p.Q463L|ELF1_uc010acd.2_Missense_Mutation_p.Q380L NM_172373 NP_758961 P32519 ELF1_HUMAN E74-like factor 1 (ets domain transcription 487 positive regulation of transcription from RNA polymerase II promoter cytoplasm|nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity ovary(1) 1 Lung NSC(96;8.3e-05)|Prostate(109;0.0233)|Breast(139;0.0296)|Lung SC(185;0.0367) all cancers(112;1.87e-08)|Epithelial(112;8.45e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000202)|GBM - Glioblastoma multiforme(144;0.00266)|BRCA - Breast invasive adenocarcinoma(63;0.072) CTTTTGTGACTGCAGCATGAC 0.478 NA 50 159 0 0 0.01441 0 0 DIS3 22894 broad.mit.edu 37 13 73333994 73333994 + Missense_Mutation SNP G G C TCGA-38-4628-01A-01D-1265-08 TCGA-38-4628-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 67bc44b7-92cf-4e8f-a7f6-c53bf34a17c6 850c7f34-0d4a-4e8e-a9a3-c4563d4dcb04 g.chr13:73333994G>C uc001vix.3 - 21 3190 c.2816C>G c.(2815-2817)ACT>AGT p.T939S DIS3_uc001viy.3_Missense_Mutation_p.T909S|DIS3_uc001viz.2_RNA NM_014953 NP_055768 Q9Y2L1 RRP44_HUMAN DIS3 mitotic control isoform a 939 CUT catabolic process|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|rRNA catabolic process|rRNA processing cytosol|exosome (RNase complex)|nucleolus|nucleoplasm 3'-5'-exoribonuclease activity|endonuclease activity|guanyl-nucleotide exchange factor activity|protein binding|RNA binding central_nervous_system(1) 1 Breast(118;0.0074)|Acute lymphoblastic leukemia(28;0.0195) GBM - Glioblastoma multiforme(99;0.000181) TGAAGTATCAGTAGGAATGCT 0.363 NA Multiple Myeloma(4;0.011) 19 59 0 0 0.014323 0 0 MYCBP2 23077 broad.mit.edu 37 13 77755944 77755944 + Silent SNP A A G TCGA-38-4628-01A-01D-1265-08 TCGA-38-4628-11A-01D-1265-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 67bc44b7-92cf-4e8f-a7f6-c53bf34a17c6 850c7f34-0d4a-4e8e-a9a3-c4563d4dcb04 g.chr13:77755944A>G uc001vkf.2 - 34 4810 c.4719T>C c.(4717-4719)GAT>GAC p.D1573D MYCBP2_uc010aev.2_Silent_p.D977D NM_015057 NP_055872 O75592 MYCB2_HUMAN MYC binding protein 2 1573 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ligase activity|protein binding|zinc ion binding ovary(4)|breast(4)|skin(3)|lung(2)|pancreas(1) 14 Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22) GBM - Glioblastoma multiforme(99;0.109) ATACTTCTCCATCATACGCAA 0.423 NA 37 85 0 0 0.004289 0 0 OR4K5 79317 broad.mit.edu 37 14 20389573 20389573 + Missense_Mutation SNP T T C TCGA-38-4628-01A-01D-1265-08 TCGA-38-4628-11A-01D-1265-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 67bc44b7-92cf-4e8f-a7f6-c53bf34a17c6 850c7f34-0d4a-4e8e-a9a3-c4563d4dcb04 g.chr14:20389573T>C uc010tkw.1 + 1 808 c.808T>C c.(808-810)TTT>CTT p.F270L NM_001005483 NP_001005483 Q8NGD3 OR4K5_HUMAN olfactory receptor, family 4, subfamily K, 270 Helical; Name=7; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|skin(1) 2 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00327) TTTGGATAAATTTCTTGCCAT 0.388 NA 16 296 0 0 0.006122 0 0 FLJ10357 55701 broad.mit.edu 37 14 21543035 21543035 + Missense_Mutation SNP G G C TCGA-38-4628-01A-01D-1265-08 TCGA-38-4628-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 67bc44b7-92cf-4e8f-a7f6-c53bf34a17c6 850c7f34-0d4a-4e8e-a9a3-c4563d4dcb04 g.chr14:21543035G>C uc001vzp.2 + 3 1175 c.1146G>C c.(1144-1146)AAG>AAC p.K382N FLJ10357_uc001vzn.1_Missense_Mutation_p.K382N|FLJ10357_uc001vzo.1_Intron|FLJ10357_uc010aij.2_RNA|FLJ10357_uc010tln.1_5'UTR NM_018071 NP_060541 Q8TER5 ARH40_HUMAN hypothetical protein LOC55701 382 Gly-rich. regulation of Rho protein signal transduction cytoplasm Rho guanyl-nucleotide exchange factor activity 0 all_cancers(95;0.00185) OV - Ovarian serous cystadenocarcinoma(11;5.79e-11)|Epithelial(56;8.35e-09)|all cancers(55;4.23e-08) GBM - Glioblastoma multiforme(265;0.0197) ACAGAAGAAAGAAGCGAGCTG 0.627 NA 16 77 0 0 0.006122 0 0 NUBPL 80224 broad.mit.edu 37 14 32030658 32030658 + Nonsense_Mutation SNP C C T TCGA-38-4628-01A-01D-1265-08 TCGA-38-4628-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 67bc44b7-92cf-4e8f-a7f6-c53bf34a17c6 850c7f34-0d4a-4e8e-a9a3-c4563d4dcb04 g.chr14:32030658C>T uc001wrk.3 + 1 68 c.13C>T c.(13-15)CAG>TAG p.Q5* NUBPL_uc010amj.2_RNA NM_025152 NP_079428 Q8TB37 NUBPL_HUMAN nucleotide binding protein-like 5 mitochondrial respiratory chain complex I assembly|mitochondrion morphogenesis mitochondrion 4 iron, 4 sulfur cluster binding|ATP binding|metal ion binding 0 Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.214) LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0677)|STAD - Stomach adenocarcinoma(7;0.173) GBM - Glioblastoma multiforme(265;0.0102) GGGGATTTGGCAGCGTCTGCT 0.667 NA 3 22 0 0 0.00308 0 0 RALGAPA1 253959 broad.mit.edu 37 14 36217939 36217939 + Missense_Mutation SNP G G C TCGA-38-4628-01A-01D-1265-08 TCGA-38-4628-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 67bc44b7-92cf-4e8f-a7f6-c53bf34a17c6 850c7f34-0d4a-4e8e-a9a3-c4563d4dcb04 g.chr14:36217939G>C uc001wti.2 - 10 1494 c.1103C>G c.(1102-1104)TCC>TGC p.S368C RALGAPA1_uc001wtj.2_Missense_Mutation_p.S368C|RALGAPA1_uc010tpv.1_Missense_Mutation_p.S368C|RALGAPA1_uc010tpw.1_Missense_Mutation_p.S368C|RALGAPA1_uc001wtk.1_Missense_Mutation_p.S219C NM_014990 NP_055805 Q6GYQ0 RGPA1_HUMAN Ral GTPase activating protein, alpha subunit 1 368 activation of Ral GTPase activity cytosol|mitochondrion|nucleus protein heterodimerization activity|Ral GTPase activator activity ovary(3)|breast(1) 4 GCTTGTATTGGAATGAGACTG 0.393 NA 78 55 0 0 0.01441 0 0 MGAT2 4247 broad.mit.edu 37 14 50088220 50088220 + Silent SNP G G T TCGA-38-4628-01A-01D-1265-08 TCGA-38-4628-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 67bc44b7-92cf-4e8f-a7f6-c53bf34a17c6 850c7f34-0d4a-4e8e-a9a3-c4563d4dcb04 g.chr14:50088220G>T uc001wwr.2 + 1 732 c.234G>T c.(232-234)GCG>GCT p.A78A SDCCAG1_uc010anj.1_Intron|RPL36AL_uc001wwq.1_5'Flank NM_002408 NP_002399 Q10469 MGAT2_HUMAN mannosyl (alpha-1,6-)-glycoprotein 78 Lumenal (Potential). oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine Golgi membrane|Golgi stack|integral to membrane|membrane fraction alpha-1,6-mannosylglycoprotein 2-beta-N-acetylglucosaminyltransferase activity 0 all_epithelial(31;0.0021)|Breast(41;0.0124) TGGTCCCGGCGGTCCCCCAGC 0.682 NA 11 30 3.41278e-10 4.19225e-10 0.00499 1 0 ZFYVE26 23503 broad.mit.edu 37 14 68274475 68274475 + Missense_Mutation SNP G G T TCGA-38-4628-01A-01D-1265-08 TCGA-38-4628-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 67bc44b7-92cf-4e8f-a7f6-c53bf34a17c6 850c7f34-0d4a-4e8e-a9a3-c4563d4dcb04 g.chr14:68274475G>T uc001xka.2 - 5 665 c.526C>A c.(526-528)CTT>ATT p.L176I ZFYVE26_uc010tsz.1_RNA|ZFYVE26_uc001xkc.3_Missense_Mutation_p.L176I|ZFYVE26_uc010tta.1_Missense_Mutation_p.L176I NM_015346 NP_056161 Q68DK2 ZFY26_HUMAN zinc finger, FYVE domain containing 26 176 cell cycle|cell death|cytokinesis|double-strand break repair via homologous recombination centrosome|midbody metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding p.L176V(1) ovary(9)|breast(2) 11 all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115) TCCTCCTCAAGCAGGAGCTCC 0.607 NA 31 182 6.70999e-13 8.55953e-13 0.004289 1 0 TDP1 55775 broad.mit.edu 37 14 90499508 90499508 + Missense_Mutation SNP C C G TCGA-38-4628-01A-01D-1265-08 TCGA-38-4628-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 67bc44b7-92cf-4e8f-a7f6-c53bf34a17c6 850c7f34-0d4a-4e8e-a9a3-c4563d4dcb04 g.chr14:90499508C>G uc001xxy.2 + 16 2002 c.1703C>G c.(1702-1704)GCC>GGC p.A568G TDP1_uc010atm.2_RNA|TDP1_uc001xxz.2_Missense_Mutation_p.A568G|TDP1_uc010atn.2_Silent_p.G583G|TDP1_uc001xya.2_Missense_Mutation_p.A329G|TDP1_uc001xyb.2_RNA|TDP1_uc010ato.2_Intron|TDP1_uc001xyd.1_Missense_Mutation_p.A183G NM_018319 NP_060789 Q9NUW8 TYDP1_HUMAN tyrosyl-DNA phosphodiesterase 1 568 cell death|double-strand break repair|single strand break repair cytoplasm|nucleus 3'-tyrosyl-DNA phosphodiesterase activity|double-stranded DNA binding|exonuclease activity|protein binding|single-stranded DNA binding ovary(2) 2 all_cancers(154;0.185) COAD - Colon adenocarcinoma(157;0.23) GAGCCAATGGCCACCTTTCCT 0.453 NA Repair_of_DNA-protein_crosslinks 17 18 0 0 0.007413 0 0 SERPINA11 256394 broad.mit.edu 37 14 94914835 94914835 + Missense_Mutation SNP C C A TCGA-38-4628-01A-01D-1265-08 TCGA-38-4628-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 67bc44b7-92cf-4e8f-a7f6-c53bf34a17c6 850c7f34-0d4a-4e8e-a9a3-c4563d4dcb04 g.chr14:94914835C>A uc001ydd.1 - 2 337 c.277G>T c.(277-279)GCT>TCT p.A93S NM_001080451 NP_001073920 Q86U17 SPA11_HUMAN serpin peptidase inhibitor, clade A (alpha-1 93 regulation of proteolysis extracellular region serine-type endopeptidase inhibitor activity kidney(1) 1 COAD - Colon adenocarcinoma(157;0.211) GAGGTGTTAGCTTGGGCCCCA 0.597 NA 22 129 8.10497e-08 9.60053e-08 0.010504 1 0 MGA 23269 broad.mit.edu 37 15 41988517 41988517 + Nonsense_Mutation SNP G G T TCGA-38-4628-01A-01D-1265-08 TCGA-38-4628-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 67bc44b7-92cf-4e8f-a7f6-c53bf34a17c6 850c7f34-0d4a-4e8e-a9a3-c4563d4dcb04 g.chr15:41988517G>T uc001zog.1 + 3 1400 c.1309G>T c.(1309-1311)GAA>TAA p.E437* MGA_uc010ucy.1_Nonsense_Mutation_p.E437*|MGA_uc010ucz.1_Nonsense_Mutation_p.E437* NM_001080541 NP_001074010 Q8IWI9 MGAP_HUMAN MAX-interacting protein isoform 2 437 MLL1 complex DNA binding|sequence-specific DNA binding transcription factor activity ovary(6)|kidney(3)|upper_aerodigestive_tract(1)|haematopoietic_and_lymphoid_tissue(1)|skin(1) 12 all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238) OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235) TGACAACCCAGAAGCTGACCA 0.408 NA 28 31 1.08312e-15 1.42742e-15 0.009535 1 0 C15orf48 84419 broad.mit.edu 37 15 45723236 45723236 + Missense_Mutation SNP G G A TCGA-38-4628-01A-01D-1265-08 TCGA-38-4628-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 67bc44b7-92cf-4e8f-a7f6-c53bf34a17c6 850c7f34-0d4a-4e8e-a9a3-c4563d4dcb04 g.chr15:45723236G>A uc001zvg.2 + 3 192 c.74G>A c.(73-75)GGT>GAT p.G25D C15orf48_uc001zvh.2_Missense_Mutation_p.G25D|MIR147B_hsa-mir-147b|MI0005544_5'Flank NM_197955 NP_922946 Q9C002 NMES1_HUMAN normal mucosa of esophagus specific 1 25 nucleus ovary(1) 1 Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027) all cancers(107;1.67e-16)|GBM - Glioblastoma multiforme(94;1.71e-06) GTGGCGGCGGGTGGAGCCTCA 0.423 NA 20 68 0 0 0.007291 0 0 GRINL1A 81488 broad.mit.edu 37 15 58001463 58001463 + Missense_Mutation SNP C C T TCGA-38-4628-01A-01D-1265-08 TCGA-38-4628-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 67bc44b7-92cf-4e8f-a7f6-c53bf34a17c6 850c7f34-0d4a-4e8e-a9a3-c4563d4dcb04 g.chr15:58001463C>T uc002aet.3 + 2 805 c.665C>T c.(664-666)TCC>TTC p.S222F GCOM1_uc002aem.2_Intron|GCOM1_uc002aeq.2_Intron|GCOM1_uc002aen.2_Intron|GCOM1_uc010bfy.2_Intron|GCOM1_uc002aeo.2_Intron|GCOM1_uc002aep.2_RNA|GCOM1_uc010bfx.2_Intron|GRINL1A_uc002aes.2_5'UTR|GRINL1A_uc002aev.1_3'UTR|GRINL1A_uc010ugu.1_RNA|GRINL1A_uc002aeu.3_Missense_Mutation_p.S65F NM_015532 NP_056347 P0CAP1 GCOM1_HUMAN glutamate receptor, ionotropic, N-methyl Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment intracellular signal transduction extrinsic to internal side of plasma membrane|I band 0 all cancers(107;0.0697)|GBM - Glioblastoma multiforme(80;0.12) ACAGGCCTTTCCAGTGGGACT 0.443 NA 12 56 0 0 0.001855 0 0 RPL4 6124 broad.mit.edu 37 15 66792408 66792408 + Missense_Mutation SNP G G A TCGA-38-4628-01A-01D-1265-08 TCGA-38-4628-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 67bc44b7-92cf-4e8f-a7f6-c53bf34a17c6 850c7f34-0d4a-4e8e-a9a3-c4563d4dcb04 g.chr15:66792408G>A uc002apv.2 - 9 1080 c.1024C>T c.(1024-1026)CGC>TGC p.R342C SNAPC5_uc002apu.1_5'Flank|RPL4_uc010bhr.2_Missense_Mutation_p.R248C|RPL4_uc002apw.2_Missense_Mutation_p.R248C|RPL4_uc002apx.2_Missense_Mutation_p.R248C NM_000968 NP_000959 P36578 RL4_HUMAN ribosomal protein L4 342 endocrine pancreas development|translational elongation|translational termination|viral transcription cytosolic large ribosomal subunit|nucleolus protein binding|RNA binding|structural constituent of ribosome 0 CTGGCCTGGCGAAGAATGGTG 0.299 NA 9 86 0 0 0.006214 0 0 ARID3B 10620 broad.mit.edu 37 15 74883593 74883593 + Missense_Mutation SNP G G A TCGA-38-4628-01A-01D-1265-08 TCGA-38-4628-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 67bc44b7-92cf-4e8f-a7f6-c53bf34a17c6 850c7f34-0d4a-4e8e-a9a3-c4563d4dcb04 g.chr15:74883593G>A uc002aye.2 + 6 1184 c.983G>A c.(982-984)CGG>CAG p.R328Q ARID3B_uc002ayd.2_Missense_Mutation_p.R328Q|ARID3B_uc010bjs.1_Missense_Mutation_p.R33Q NM_006465 NP_006456 Q8IVW6 ARI3B_HUMAN AT rich interactive domain 3B 328 Interaction with RB1. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding 0 GAGGGCCGGCGGCCCAGCTAC 0.617 NA 22 155 0 0 0.005443 0 0 LOC645752 645752 broad.mit.edu 37 15 78211648 78211648 + Missense_Mutation SNP A A G TCGA-38-4628-01A-01D-1265-08 TCGA-38-4628-11A-01D-1265-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 67bc44b7-92cf-4e8f-a7f6-c53bf34a17c6 850c7f34-0d4a-4e8e-a9a3-c4563d4dcb04 g.chr15:78211648A>G uc010bky.2 - 11 883 c.119T>C c.(118-120)CTA>CCA p.L40P NR_027024 SubName: Full=GOLGA6 protein; Flags: Fragment; 0 CGCCAGGGATAGGGGCTCAGC 0.522 NA 3 63 0 0 0.004672 0 0 ADAMTSL3 57188 broad.mit.edu 37 15 84611522 84611522 + Silent SNP C C T TCGA-38-4628-01A-01D-1265-08 TCGA-38-4628-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 67bc44b7-92cf-4e8f-a7f6-c53bf34a17c6 850c7f34-0d4a-4e8e-a9a3-c4563d4dcb04 g.chr15:84611522C>T uc002bjz.3 + 18 2516 c.2292C>T c.(2290-2292)CAC>CAT p.H764H ADAMTSL3_uc010bmt.1_Silent_p.H764H|ADAMTSL3_uc010bmu.1_Silent_p.H764H NM_207517 NP_997400 P82987 ATL3_HUMAN ADAMTS-like 3 precursor 764 TSP type-1 6. proteinaceous extracellular matrix metallopeptidase activity|zinc ion binding ovary(6)|central_nervous_system(5)|lung(5)|large_intestine(4)|breast(3)|skin(2)|kidney(1)|pancreas(1) 27 BRCA - Breast invasive adenocarcinoma(143;0.211) CTGGCTGGCACATTGAAGAAT 0.572 NA 3 23 0 0 0.009096 0 0 EME2 197342 broad.mit.edu 37 16 1825151 1825152 + Nonsense_Mutation DNP GC GC AA TCGA-38-4628-01A-01D-1265-08 TCGA-38-4628-11A-01D-1265-08 GC GC - - GC GC Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 67bc44b7-92cf-4e8f-a7f6-c53bf34a17c6 850c7f34-0d4a-4e8e-a9a3-c4563d4dcb04 g.chr16:1825151_1825152GC>AA uc002cmq.1 + 4 587_588 c.587_588GC>AA c.(586-588)TGC>TAA p.C196* MRPS34_uc002cmn.2_5'Flank|MRPS34_uc002cmo.2_5'Flank|MRPS34_uc002cmp.1_5'Flank|EME2_uc010brw.1_Intron NM_001010865 NP_001010865 A4GXA9 EME2_HUMAN essential meiotic endonuclease 1 homolog 2 Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment DNA recombination|DNA repair nucleus DNA binding|endonuclease activity lung(1)|central_nervous_system(1)|pancreas(1) 3 TCACTCTCATGCCCACAGCAGG 0.668 NA Direct_reversal_of_damage|Homologous_recombination 17 133 0 0 0.004672 0 0 C16orf62 57020 broad.mit.edu 37 16 19702685 19702685 + Silent SNP C C T TCGA-38-4628-01A-01D-1265-08 TCGA-38-4628-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 67bc44b7-92cf-4e8f-a7f6-c53bf34a17c6 850c7f34-0d4a-4e8e-a9a3-c4563d4dcb04 g.chr16:19702685C>T uc002dgn.1 + 29 2550 c.2538C>T c.(2536-2538)AAC>AAT p.N846N C16orf62_uc002dgo.1_Silent_p.N753N|C16orf62_uc002dgp.1_Silent_p.N595N NM_020314 NP_064710 Q7Z3J2 CP062_HUMAN hypothetical protein LOC57020 846 integral to membrane ovary(1) 1 TGGACTCCAACGACAGCCTCT 0.562 NA 9 41 0 0 0.006214 0 0 LCMT1 51451 broad.mit.edu 37 16 25175965 25175965 + Missense_Mutation SNP C C G TCGA-38-4628-01A-01D-1265-08 TCGA-38-4628-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 67bc44b7-92cf-4e8f-a7f6-c53bf34a17c6 850c7f34-0d4a-4e8e-a9a3-c4563d4dcb04 g.chr16:25175965C>G uc002dnx.1 + 7 774 c.616C>G c.(616-618)CCA>GCA p.P206A LCMT1_uc002dny.1_Missense_Mutation_p.P151A|LCMT1_uc002dnz.1_Missense_Mutation_p.P106A|LCMT1_uc002doa.1_Missense_Mutation_p.P51A NM_016309 NP_057393 Q9UIC8 LCMT1_HUMAN leucine carboxyl methyltransferase 1 isoform a 206 protein binding|protein C-terminal carboxyl O-methyltransferase activity|S-adenosylmethionine-dependent methyltransferase activity 0 GBM - Glioblastoma multiforme(48;0.0336) L-Leucine(DB00149) TTACATGACTCCAGAGCAGTC 0.438 Colon(200;565 2072 24396 47922 50898) NA 4 108 0 0 0.009096 0 0 PRRT2 112476 broad.mit.edu 37 16 29825755 29825755 + Silent SNP C C A TCGA-38-4628-01A-01D-1265-08 TCGA-38-4628-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 67bc44b7-92cf-4e8f-a7f6-c53bf34a17c6 850c7f34-0d4a-4e8e-a9a3-c4563d4dcb04 g.chr16:29825755C>A uc002due.3 + 3 1282 c.981C>A c.(979-981)ATC>ATA p.I327I uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|uc002duc.1_5'Flank|PRRT2_uc002dud.2_Silent_p.I327I|PRRT2_uc002duf.1_3'UTR|C16orf53_uc002dug.3_5'Flank NM_145239 NP_660282 Q7Z6L0 PRRT2_HUMAN proline-rich transmembrane protein 2 327 Helical; (Potential). response to biotic stimulus integral to membrane 0 GAGTCCTCATCATCATCGCCT 0.642 NA 7 103 0.000157383 0.000173035 0.00308 1 0 SALL1 6299 broad.mit.edu 37 16 51174943 51174943 + Missense_Mutation SNP G G T TCGA-38-4628-01A-01D-1265-08 TCGA-38-4628-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 67bc44b7-92cf-4e8f-a7f6-c53bf34a17c6 850c7f34-0d4a-4e8e-a9a3-c4563d4dcb04 g.chr16:51174943G>T uc010vgs.1 - 2 1221 c.1190C>A c.(1189-1191)TCC>TAC p.S397Y SALL1_uc010vgr.1_Missense_Mutation_p.S300Y|SALL1_uc010cbv.2_Intron NM_002968 NP_002959 Q9NSC2 SALL1_HUMAN sal-like 1 isoform a 397 adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development chromocenter|cytoplasm|heterochromatin|nucleus beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding skin(5)|ovary(3) 8 all_cancers(37;0.0322) COAD - Colon adenocarcinoma(2;0.24) CGAGTTAGCGGAGGCTTGCTG 0.498 GBM(103;1352 1446 1855 4775 8890) NA 12 139 6.42651e-13 8.30439e-13 0.010729 1 0 SALL1 6299 broad.mit.edu 37 16 51175382 51175382 + Missense_Mutation SNP G G A TCGA-38-4628-01A-01D-1265-08 TCGA-38-4628-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 67bc44b7-92cf-4e8f-a7f6-c53bf34a17c6 850c7f34-0d4a-4e8e-a9a3-c4563d4dcb04 g.chr16:51175382G>A uc010vgs.1 - 2 782 c.751C>T c.(751-753)CGT>TGT p.R251C SALL1_uc010vgr.1_Missense_Mutation_p.R154C|SALL1_uc010cbv.2_Intron NM_002968 NP_002959 Q9NSC2 SALL1_HUMAN sal-like 1 isoform a 251 adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development chromocenter|cytoplasm|heterochromatin|nucleus beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding skin(5)|ovary(3) 8 all_cancers(37;0.0322) COAD - Colon adenocarcinoma(2;0.24) ATTTGGTGACGAATCTGTTCG 0.532 GBM(103;1352 1446 1855 4775 8890) NA 10 149 0 0 0.010729 0 0 KIAA0182 23199 broad.mit.edu 37 16 85695049 85695049 + Silent SNP G G T TCGA-38-4628-01A-01D-1265-08 TCGA-38-4628-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 67bc44b7-92cf-4e8f-a7f6-c53bf34a17c6 850c7f34-0d4a-4e8e-a9a3-c4563d4dcb04 g.chr16:85695049G>T uc002fix.2 + 9 2012 c.1938G>T c.(1936-1938)CTG>CTT p.L646L KIAA0182_uc002fiw.2_Silent_p.L542L|KIAA0182_uc002fiy.2_Silent_p.L573L|KIAA0182_uc002fiz.2_5'Flank|KIAA0182_uc010cho.2_5'Flank NM_014615 NP_055430 Q14687 GSE1_HUMAN genetic suppressor element 1 isoform 1 646 Pro-rich. protein binding large_intestine(3)|ovary(1)|skin(1) 5 CTGCCCCTCTGGACAAGTACC 0.706 NA 5 20 1.06961e-07 1.25949e-07 0.00308 1 0 SPATA22 84690 broad.mit.edu 37 17 3343538 3343538 + Missense_Mutation SNP C C A TCGA-38-4628-01A-01D-1265-08 TCGA-38-4628-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 67bc44b7-92cf-4e8f-a7f6-c53bf34a17c6 850c7f34-0d4a-4e8e-a9a3-c4563d4dcb04 g.chr17:3343538C>A uc002fvm.2 - 9 1232 c.995G>T c.(994-996)AGA>ATA p.R332I SPATA22_uc010vrg.1_Missense_Mutation_p.R316I|SPATA22_uc010vrf.1_3'UTR|SPATA22_uc002fvn.2_Missense_Mutation_p.R332I|SPATA22_uc002fvo.2_Missense_Mutation_p.R332I|SPATA22_uc002fvp.2_Missense_Mutation_p.R332I|SPATA22_uc010ckf.2_Missense_Mutation_p.R289I NM_032598 NP_115987 Q8NHS9 SPT22_HUMAN spermatogenesis associated 22 332 0 AGACGCCGGTCTGACAGAAAC 0.378 NA 7 124 5.18039e-06 5.89085e-06 0.00308 1 0 SLC13A2 9058 broad.mit.edu 37 17 26818601 26818601 + Missense_Mutation SNP G G C TCGA-38-4628-01A-01D-1265-08 TCGA-38-4628-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 67bc44b7-92cf-4e8f-a7f6-c53bf34a17c6 850c7f34-0d4a-4e8e-a9a3-c4563d4dcb04 g.chr17:26818601G>C uc002hbh.2 + 5 788 c.721G>C c.(721-723)GCA>CCA p.A241P SLC13A2_uc010wal.1_Missense_Mutation_p.A198P|SLC13A2_uc010wam.1_Missense_Mutation_p.A197P|SLC13A2_uc010wan.1_Missense_Mutation_p.A290P|SLC13A2_uc010wao.1_Missense_Mutation_p.A198P|SLC13A2_uc002hbi.2_Missense_Mutation_p.A170P NM_003984 NP_003975 Q13183 S13A2_HUMAN solute carrier family 13, member 2 isoform b 241 Helical; (Potential). integral to plasma membrane|membrane fraction low affinity sodium:dicarboxylate symporter activity 0 all_lung(13;0.000871)|Lung NSC(42;0.0027) UCEC - Uterine corpus endometrioid carcinoma (53;0.154) Succinic acid(DB00139) GACTGGCACCGCACCCAACCT 0.627 NA 13 79 0 0 0.003163 0 0 RNF135 84282 broad.mit.edu 37 17 29325909 29325909 + Silent SNP G G A TCGA-38-4628-01A-01D-1265-08 TCGA-38-4628-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 67bc44b7-92cf-4e8f-a7f6-c53bf34a17c6 850c7f34-0d4a-4e8e-a9a3-c4563d4dcb04 g.chr17:29325909G>A uc002hfz.2 + 5 1135 c.999G>A c.(997-999)GAG>GAA p.E333E RNF135_uc002hga.2_3'UTR|RNF135_uc010csm.2_3'UTR|RNF135_uc002hgb.2_3'UTR NM_032322 NP_115698 Q8IUD6 RN135_HUMAN ring finger protein 135 isoform 1 333 B30.2/SPRY. innate immune response|negative regulation of type I interferon production|positive regulation of interferon-beta production|regulation of innate immune response cytosol protein binding|ribonucleoprotein binding|ubiquitin-protein ligase activity|zinc ion binding p.?(1) skin(2) 2 all_cancers(10;8.65e-08)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Myeloproliferative disorder(56;0.0255) CTTCCTGGGAGATGAGCCGCG 0.557 NA 12 50 0 0 0.001855 0 0 CDK12 51755 broad.mit.edu 37 17 37627359 37627359 + Missense_Mutation SNP T T C TCGA-38-4628-01A-01D-1265-08 TCGA-38-4628-11A-01D-1265-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 67bc44b7-92cf-4e8f-a7f6-c53bf34a17c6 850c7f34-0d4a-4e8e-a9a3-c4563d4dcb04 g.chr17:37627359T>C uc010cvv.2 + 2 1860 c.1274T>C c.(1273-1275)GTA>GCA p.V425A CDK12_uc010wef.1_Missense_Mutation_p.V424A|CDK12_uc002hrw.3_Missense_Mutation_p.V425A NM_016507 NP_057591 Q9NYV4 CDK12_HUMAN Cdc2-related kinase, arginine/serine-rich 425 mRNA processing|phosphorylation of RNA polymerase II C-terminal domain|protein autophosphorylation|regulation of MAP kinase activity|RNA splicing nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck|nucleolus ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity ovary(10)|lung(4)|breast(2)|skin(2)|large_intestine(1) 19 GGTTCACCTGTATTTTTGCCT 0.438 NA TCGA Ovarian(9;0.13) 23 124 0 0 0.014323 0 0 KRTAP4-9 100132386 broad.mit.edu 37 17 39261731 39261731 + Missense_Mutation SNP G G C TCGA-38-4628-01A-01D-1265-08 TCGA-38-4628-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 67bc44b7-92cf-4e8f-a7f6-c53bf34a17c6 850c7f34-0d4a-4e8e-a9a3-c4563d4dcb04 g.chr17:39261731G>C uc010wfp.1 + 1 91 c.91G>C c.(91-93)GAG>CAG p.E31Q NM_001146041 NP_001139513 Q9BYQ8 KRA49_HUMAN keratin associated protein 4-9 31 2.|29 X 5 AA repeats of C-C-[RQVHIEK]- [SPTR]-[VSTQCRNP]. keratin filament 0 CAGCTGCTGTGAGACCACCTG 0.637 NA 3 69 0 0 0.004672 0 0 MAPT 4137 broad.mit.edu 37 17 44061120 44061120 + Missense_Mutation SNP A A C TCGA-38-4628-01A-01D-1265-08 TCGA-38-4628-11A-01D-1265-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 67bc44b7-92cf-4e8f-a7f6-c53bf34a17c6 850c7f34-0d4a-4e8e-a9a3-c4563d4dcb04 g.chr17:44061120A>C uc002ijr.3 + 6 1270 c.950A>C c.(949-951)CAC>CCC p.H317P MAPT_uc010dau.2_Missense_Mutation_p.H317P|MAPT_uc002ijs.3_Intron|MAPT_uc002ijx.3_Intron|MAPT_uc002ijt.3_Intron|MAPT_uc002iju.3_Intron|MAPT_uc002ijv.3_Intron NM_016835 NP_058519 P10636 TAU_HUMAN microtubule-associated protein tau isoform 1 317 cellular component disassembly involved in apoptosis|microtubule cytoskeleton organization|negative regulation of microtubule depolymerization|positive regulation of axon extension|positive regulation of microtubule polymerization|regulation of autophagy axon|cytosol|growth cone|microtubule|microtubule associated complex|nuclear periphery|plasma membrane|tubulin complex apolipoprotein E binding|enzyme binding|identical protein binding|lipoprotein particle binding|microtubule binding|protein binding|SH3 domain binding|structural constituent of cytoskeleton pancreas(1) 1 Melanoma(429;0.216) GAGCAGGCGCACTCGGAGGAG 0.647 NA 11 90 0 0 0.013537 0 0 TBX21 30009 broad.mit.edu 37 17 45822618 45822618 + Missense_Mutation SNP G G C TCGA-38-4628-01A-01D-1265-08 TCGA-38-4628-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 67bc44b7-92cf-4e8f-a7f6-c53bf34a17c6 850c7f34-0d4a-4e8e-a9a3-c4563d4dcb04 g.chr17:45822618G>C uc002ilv.1 + 6 1705 c.1494G>C c.(1492-1494)AAG>AAC p.K498N NM_013351 NP_037483 Q9UL17 TBX21_HUMAN T-box 21 498 lymphocyte migration|multicellular organismal development|positive regulation of transcription, DNA-dependent|response to virus nucleus sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding 0 GAGACTCTAAGAGGAGGCGCG 0.587 NA 12 96 0 0 0.010729 0 0 WFIKKN2 124857 broad.mit.edu 37 17 48918350 48918350 + Silent SNP C C T TCGA-38-4628-01A-01D-1265-08 TCGA-38-4628-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 67bc44b7-92cf-4e8f-a7f6-c53bf34a17c6 850c7f34-0d4a-4e8e-a9a3-c4563d4dcb04 g.chr17:48918350C>T uc002isv.3 + 2 2395 c.1701C>T c.(1699-1701)GAC>GAT p.D567D WFIKKN2_uc010dbu.2_Silent_p.D474D NM_175575 NP_783165 Q8TEU8 WFKN2_HUMAN WFIKKN2 protein 567 extracellular region metalloendopeptidase inhibitor activity|protein binding|serine-type endopeptidase inhibitor activity ovary(2)|skin(1) 3 BRCA - Breast invasive adenocarcinoma(22;1.09e-08) AGACCTGTGACGTCCTCAAGG 0.622 NA 5 58 0 0 0.00308 0 0 TYMS 7298 broad.mit.edu 37 18 670729 670729 + Silent SNP C C G TCGA-38-4628-01A-01D-1265-08 TCGA-38-4628-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 67bc44b7-92cf-4e8f-a7f6-c53bf34a17c6 850c7f34-0d4a-4e8e-a9a3-c4563d4dcb04 g.chr18:670729C>G uc010dka.1 + 5 733 c.594C>G c.(592-594)CTC>CTG p.L198L TYMS_uc010dkb.1_Silent_p.L164L|TYMS_uc010dkc.1_Silent_p.L115L NM_001071 NP_001062 P04818 TYSY_HUMAN thymidylate synthase 198 DNA repair|DNA replication|phosphatidylinositol-mediated signaling|pyrimidine base metabolic process|pyrimidine nucleoside biosynthetic process|regulation of transcription involved in G1/S phase of mitotic cell cycle|response to organophosphorus cytosol thymidylate synthase activity 0 Capecitabine(DB01101)|Floxuridine(DB00322)|Fluorouracil(DB00544)|Gemcitabine(DB00441)|Leucovorin(DB00650)|Pemetrexed(DB00642)|Raltitrexed(DB00293)|Trifluridine(DB00432) GCCATGCCCTCTGCCAGTTCT 0.557 NA 45 189 0 0 0.009718 0 0 SPIRE1 56907 broad.mit.edu 37 18 12546780 12546780 + Missense_Mutation SNP C C G TCGA-38-4628-01A-01D-1265-08 TCGA-38-4628-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 67bc44b7-92cf-4e8f-a7f6-c53bf34a17c6 850c7f34-0d4a-4e8e-a9a3-c4563d4dcb04 g.chr18:12546780C>G uc002kre.2 - 3 543 c.496G>C c.(496-498)GCT>CCT p.A166P SPIRE1_uc002krc.2_RNA|SPIRE1_uc010wzw.1_Missense_Mutation_p.A46P|SPIRE1_uc010wzx.1_Intron|SPIRE1_uc010wzy.1_Missense_Mutation_p.A166P NM_001128626 NP_001122098 Q08AE8 SPIR1_HUMAN spire homolog 1 isoform a 166 KIND. cytoskeleton|perinuclear region of cytoplasm actin binding 0 CTACCGTCAGCTTCCACCGTG 0.448 NA 31 192 0 0 0.013726 0 0 C18orf34 374864 broad.mit.edu 37 18 30913186 30913186 + Missense_Mutation SNP C C A TCGA-38-4628-01A-01D-1265-08 TCGA-38-4628-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 67bc44b7-92cf-4e8f-a7f6-c53bf34a17c6 850c7f34-0d4a-4e8e-a9a3-c4563d4dcb04 g.chr18:30913186C>A uc002kxn.2 - 9 973 c.831G>T c.(829-831)CAG>CAT p.Q277H C18orf34_uc010xbr.1_Missense_Mutation_p.Q277H|C18orf34_uc010dmf.1_Intron|C18orf34_uc002kxo.2_Missense_Mutation_p.Q277H|C18orf34_uc002kxp.2_Missense_Mutation_p.Q277H NM_001105528 NP_001098998 Q5BJE1 CR034_HUMAN hypothetical protein LOC374864 isoform 1 277 Potential. ovary(1) 1 GTTCCTGATTCTGCTTAGAGT 0.323 NA 29 57 1.06801e-11 1.35372e-11 0.009535 1 0 DNMT1 1786 broad.mit.edu 37 19 10252742 10252742 + Missense_Mutation SNP A A C TCGA-38-4628-01A-01D-1265-08 TCGA-38-4628-11A-01D-1265-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 67bc44b7-92cf-4e8f-a7f6-c53bf34a17c6 850c7f34-0d4a-4e8e-a9a3-c4563d4dcb04 g.chr19:10252742A>C uc002mng.2 - 29 3403 c.3223T>G c.(3223-3225)TAC>GAC p.Y1075D DNMT1_uc002mne.2_5'Flank|DNMT1_uc002mnf.2_5'UTR|DNMT1_uc010xlc.1_Missense_Mutation_p.Y1091D|DNMT1_uc002mnh.2_Missense_Mutation_p.Y970D|DNMT1_uc010xld.1_Missense_Mutation_p.Y1075D NM_001379 NP_001370 P26358 DNMT1_HUMAN DNA (cytosine-5-)-methyltransferase 1 isoform b 1075 BAH 2. chromatin modification|maintenance of DNA methylation|negative regulation of histone H3-K9 methylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of gene expression|positive regulation of histone H3-K4 methylation|transcription, DNA-dependent nucleus DNA (cytosine-5-)-methyltransferase activity|DNA binding|transcription factor binding ovary(2)|prostate(1)|lung(1)|breast(1)|skin(1) 6 OV - Ovarian serous cystadenocarcinoma(20;1.59e-09)|Epithelial(33;2.86e-06)|all cancers(31;6.68e-06) Azacitidine(DB00928)|Decitabine(DB01262)|Flucytosine(DB01099)|Ifosfamide(DB01181)|Procainamide(DB01035) CCCATGGAGTACACCTGGACG 0.632 NA 3 25 0 0 0.009096 0 0 ZNF536 9745 broad.mit.edu 37 19 30935455 30935455 + Missense_Mutation SNP C C A TCGA-38-4628-01A-01D-1265-08 TCGA-38-4628-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 67bc44b7-92cf-4e8f-a7f6-c53bf34a17c6 850c7f34-0d4a-4e8e-a9a3-c4563d4dcb04 g.chr19:30935455C>A uc002nsu.1 + 2 1124 c.986C>A c.(985-987)GCC>GAC p.A329D ZNF536_uc010edd.1_Missense_Mutation_p.A329D NM_014717 NP_055532 O15090 ZN536_HUMAN zinc finger protein 536 329 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) GCCGAGTCGGCCCAGGGCCAG 0.652 NA 20 253 1.85244e-09 2.23416e-09 0.00333 1 0 RHPN2 85415 broad.mit.edu 37 19 33503585 33503585 + Missense_Mutation SNP C C G TCGA-38-4628-01A-01D-1265-08 TCGA-38-4628-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 67bc44b7-92cf-4e8f-a7f6-c53bf34a17c6 850c7f34-0d4a-4e8e-a9a3-c4563d4dcb04 g.chr19:33503585C>G uc002nuf.2 - 5 502 c.436G>C c.(436-438)GAT>CAT p.D146H RHPN2_uc010xro.1_5'UTR|RHPN2_uc002nue.2_5'UTR NM_033103 NP_149094 Q8IUC4 RHPN2_HUMAN rhophilin, Rho GTPase binding protein 2 146 BRO1. signal transduction perinuclear region of cytoplasm protein binding central_nervous_system(5)|ovary(1) 6 Esophageal squamous(110;0.137) GCAATTTCATCTTCATATAAA 0.398 NA 14 119 0 0 0.003163 0 0 SBSN 374897 broad.mit.edu 37 19 36018821 36018821 + Silent SNP G G A TCGA-38-4628-01A-01D-1265-08 TCGA-38-4628-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 67bc44b7-92cf-4e8f-a7f6-c53bf34a17c6 850c7f34-0d4a-4e8e-a9a3-c4563d4dcb04 g.chr19:36018821G>A uc002oae.1 - 1 433 c.363C>T c.(361-363)AAC>AAT p.N121N SBSN_uc002oad.1_Silent_p.N121N NM_198538 NP_940940 Q6UWP8 SBSN_HUMAN suprabasin isoform 2 precursor 121 Ala/Gly/His-rich. extracellular region ovary(1) 1 all_lung(56;1.62e-08)|Lung NSC(56;2.47e-08)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0724) GTCCAGCAGCGTTGTTGACCC 0.572 NA 7 313 0 0 0.001984 0 0 ATP4A 495 broad.mit.edu 37 19 36054337 36054337 + Silent SNP C C A TCGA-38-4628-01A-01D-1265-08 TCGA-38-4628-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 67bc44b7-92cf-4e8f-a7f6-c53bf34a17c6 850c7f34-0d4a-4e8e-a9a3-c4563d4dcb04 g.chr19:36054337C>A uc002oal.1 - 2 134 c.105G>T c.(103-105)GGG>GGT p.G35G NM_000704 NP_000695 P20648 ATP4A_HUMAN hydrogen/potassium-exchanging ATPase 4A 35 Cytoplasmic (Potential). ATP biosynthetic process|ATP hydrolysis coupled proton transport integral to plasma membrane ATP binding|hydrogen:potassium-exchanging ATPase activity|magnesium ion binding ovary(1) 1 all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0724) Esomeprazole(DB00736)|Lansoprazole(DB00448)|Omeprazole(DB00338)|Pantoprazole(DB00213)|Rabeprazole(DB01129)|Trifluoperazine(DB00831) TCTTGCCACCCCCGCCACCCG 0.602 NA 28 347 6.50621e-10 7.89473e-10 0.013726 1 0 RYR1 6261 broad.mit.edu 37 19 39025446 39025446 + Silent SNP C C T TCGA-38-4628-01A-01D-1265-08 TCGA-38-4628-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 67bc44b7-92cf-4e8f-a7f6-c53bf34a17c6 850c7f34-0d4a-4e8e-a9a3-c4563d4dcb04 g.chr19:39025446C>T uc002oit.2 + 79 11476 c.11346C>T c.(11344-11346)ATC>ATT p.I3782I RYR1_uc002oiu.2_Silent_p.I3777I|RYR1_uc002oiv.1_Silent_p.I697I|RYR1_uc010xuf.1_Silent_p.I702I NM_000540 NP_000531 P21817 RYR1_HUMAN skeletal muscle ryanodine receptor isoform 1 3782 muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity ovary(7)|pancreas(2)|breast(1)|central_nervous_system(1)|skin(1) 12 all_cancers(60;7.91e-06) Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272) Dantrolene(DB01219) TGCAGATGATCAGTGCCTGCA 0.602 NA 3 24 0 0 0.009096 0 0 PPP1R13L 10848 broad.mit.edu 37 19 45885837 45885837 + Nonsense_Mutation SNP C C T TCGA-38-4628-01A-01D-1265-08 TCGA-38-4628-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 67bc44b7-92cf-4e8f-a7f6-c53bf34a17c6 850c7f34-0d4a-4e8e-a9a3-c4563d4dcb04 g.chr19:45885837C>T uc002pbn.2 - 12 2473 c.2396G>A c.(2395-2397)TGG>TAG p.W799* PPP1R13L_uc002pbm.2_Nonsense_Mutation_p.W378*|PPP1R13L_uc002pbo.2_Nonsense_Mutation_p.W799* NM_006663 NP_006654 Q8WUF5 IASPP_HUMAN protein phosphatase 1, regulatory subunit 13 799 SH3. apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus transcription corepressor activity|transcription factor binding skin(1) 1 all_neural(266;0.224)|Ovarian(192;0.231) OV - Ovarian serous cystadenocarcinoma(262;0.0182) CGCGGCCCACCACCAGTCGGT 0.697 Pancreas(61;1447 1663 31419 50578) NA 18 72 0 0 0.00333 0 0 LIG1 3978 broad.mit.edu 37 19 48660337 48660337 + Missense_Mutation SNP T T G TCGA-38-4628-01A-01D-1265-08 TCGA-38-4628-11A-01D-1265-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 67bc44b7-92cf-4e8f-a7f6-c53bf34a17c6 850c7f34-0d4a-4e8e-a9a3-c4563d4dcb04 g.chr19:48660337T>G uc002pia.1 - 5 424 c.304A>C c.(304-306)AAT>CAT p.N102H LIG1_uc002phz.1_RNA|LIG1_uc002pib.1_RNA|LIG1_uc010xzf.1_Missense_Mutation_p.N102H|LIG1_uc010xzg.1_Missense_Mutation_p.N72H|LIG1_uc010xzh.1_RNA NM_000234 NP_000225 P18858 DNLI1_HUMAN DNA ligase I 102 anatomical structure morphogenesis|base-excision repair|cell division|DNA ligation involved in DNA repair|DNA strand elongation involved in DNA replication|double-strand break repair via homologous recombination|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair nucleoplasm ATP binding|DNA binding|DNA ligase (ATP) activity|metal ion binding large_intestine(2)|lung(1) 3 all_epithelial(76;3.1e-06)|all_lung(116;4.39e-06)|Lung NSC(112;8.96e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203) OV - Ovarian serous cystadenocarcinoma(262;8.45e-05)|all cancers(93;0.000423)|Epithelial(262;0.0177)|GBM - Glioblastoma multiforme(486;0.0329) Bleomycin(DB00290) AGGGAAGCATTGTTCTCAGGA 0.602 NA NER 5 191 0 0 0.001984 0 0 ZNF577 84765 broad.mit.edu 37 19 52380585 52380585 + Missense_Mutation SNP C C G TCGA-38-4628-01A-01D-1265-08 TCGA-38-4628-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 67bc44b7-92cf-4e8f-a7f6-c53bf34a17c6 850c7f34-0d4a-4e8e-a9a3-c4563d4dcb04 g.chr19:52380585C>G uc010yde.1 - 6 624 c.233G>C c.(232-234)GGA>GCA p.G78A ZNF577_uc010ydd.1_RNA|ZNF577_uc002pxx.3_Missense_Mutation_p.G78A|ZNF577_uc002pxv.2_Missense_Mutation_p.G71A|ZNF577_uc002pxw.2_Missense_Mutation_p.G71A NM_032679 NP_116068 Q9BSK1 ZN577_HUMAN zinc finger protein 577 isoform a 78 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 all_neural(266;0.0602) GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.019) TGGGGGTTCTCCTTGCTCCAA 0.498 NA 8 164 0 0 0.010729 0 0 CLEC4F 165530 broad.mit.edu 37 2 71036905 71036905 + Missense_Mutation SNP C C G TCGA-38-4628-01A-01D-1265-08 TCGA-38-4628-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 67bc44b7-92cf-4e8f-a7f6-c53bf34a17c6 850c7f34-0d4a-4e8e-a9a3-c4563d4dcb04 g.chr2:71036905C>G uc002shf.2 - 6 1701 c.1624G>C c.(1624-1626)GAT>CAT p.D542H CLEC4F_uc010yqv.1_Missense_Mutation_p.D542H NM_173535 NP_775806 Q8N1N0 CLC4F_HUMAN C-type lectin, superfamily member 13 542 Extracellular (Potential).|C-type lectin. endocytosis integral to membrane receptor activity|sugar binding ovary(5) 5 GGTGTCCCATCTGTCCAGCGC 0.552 Colon(107;10 2157 6841 26035) NA 42 85 0 0 0.009718 0 0 SMARCAL1 50485 broad.mit.edu 37 2 217285083 217285083 + Missense_Mutation SNP C C G TCGA-38-4628-01A-01D-1265-08 TCGA-38-4628-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 67bc44b7-92cf-4e8f-a7f6-c53bf34a17c6 850c7f34-0d4a-4e8e-a9a3-c4563d4dcb04 g.chr2:217285083C>G uc002vgc.3 + 5 1254 c.924C>G c.(922-924)AGC>AGG p.S308R SMARCAL1_uc010fvf.2_RNA|SMARCAL1_uc002vgd.3_Missense_Mutation_p.S308R|SMARCAL1_uc010fvg.2_Missense_Mutation_p.S308R NM_014140 NP_054859 Q9NZC9 SMAL1_HUMAN SWI/SNF-related matrix-associated 308 chromatin modification|DNA metabolic process|regulation of transcription from RNA polymerase II promoter nucleus ATP binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity ovary(3)|breast(3)|skin(1) 7 Renal(323;0.0458) Epithelial(149;9.48e-06)|all cancers(144;0.000621)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0111) CCTATGGCAGCAGCGAGTCAC 0.567 NA Schimke_Immuno-Osseous_Dysplasia 3 36 0 0 0.001168 0 0 STK36 27148 broad.mit.edu 37 2 219563551 219563551 + Missense_Mutation SNP G G A TCGA-38-4628-01A-01D-1265-08 TCGA-38-4628-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 67bc44b7-92cf-4e8f-a7f6-c53bf34a17c6 850c7f34-0d4a-4e8e-a9a3-c4563d4dcb04 g.chr2:219563551G>A uc002viu.2 + 26 3550 c.3284G>A c.(3283-3285)AGC>AAC p.S1095N STK36_uc002viv.2_Missense_Mutation_p.S1074N|STK36_uc002viw.2_Missense_Mutation_p.S273N|STK36_uc002vix.2_Missense_Mutation_p.S140N NM_015690 NP_056505 Q9NRP7 STK36_HUMAN serine/threonine kinase 36 1095 cilium assembly|positive regulation of hh target transcription factor activity|positive regulation of smoothened signaling pathway|post-embryonic development aggresome|cytoplasm|focal adhesion|intermediate filament cytoskeleton|nucleus ATP binding|protein serine/threonine kinase activity|transcription factor binding ovary(4)|stomach(2)|lung(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1) 11 Renal(207;0.0915) Epithelial(149;9.65e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(261;0.00984) CTGTCTCCCAGCCACTTGTCC 0.587 NA 3 77 0 0 0.004672 0 0 NGEF 25791 broad.mit.edu 37 2 233757737 233757737 + Missense_Mutation SNP C C T TCGA-38-4628-01A-01D-1265-08 TCGA-38-4628-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 67bc44b7-92cf-4e8f-a7f6-c53bf34a17c6 850c7f34-0d4a-4e8e-a9a3-c4563d4dcb04 g.chr2:233757737C>T uc002vts.2 - 7 1261 c.1013G>A c.(1012-1014)CGG>CAG p.R338Q NGEF_uc010zmm.1_Missense_Mutation_p.R61Q|NGEF_uc010fyg.1_Missense_Mutation_p.R246Q NM_019850 NP_062824 Q8N5V2 NGEF_HUMAN neuronal guanine nucleotide exchange factor 338 DH. apoptosis|cell differentiation|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|growth cone|plasma membrane Rho guanyl-nucleotide exchange factor activity ovary(3)|central_nervous_system(3)|skin(1) 7 Breast(86;0.00279)|Renal(207;0.00339)|all_hematologic(139;0.00793)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839) Epithelial(121;8.65e-17)|BRCA - Breast invasive adenocarcinoma(100;0.00037)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(119;0.00984)|GBM - Glioblastoma multiforme(43;0.0604) CTCCTCCATCCGGTGCTCCAG 0.592 NA 24 69 0 0 0.008361 0 0 RALGAPA2 57186 broad.mit.edu 37 20 20506983 20506983 + Missense_Mutation SNP C C A TCGA-38-4628-01A-01D-1265-08 TCGA-38-4628-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 67bc44b7-92cf-4e8f-a7f6-c53bf34a17c6 850c7f34-0d4a-4e8e-a9a3-c4563d4dcb04 g.chr20:20506983C>A uc002wrz.2 - 28 3749 c.3606G>T c.(3604-3606)CAG>CAT p.Q1202H RALGAPA2_uc010gcx.2_Missense_Mutation_p.Q906H|RALGAPA2_uc010zsg.1_Missense_Mutation_p.Q650H|RALGAPA2_uc002wsa.1_Translation_Start_Site NM_020343 NP_065076 Q2PPJ7 RGPA2_HUMAN akt substrate AS250 1202 activation of Ral GTPase activity cytosol|nucleus protein heterodimerization activity|Ral GTPase activator activity ovary(1) 1 CGCAAGCTACCTGGGCCACGA 0.413 NA 3 17 0.00909568 0.009784 0.009096 1 0 CHMP4B 128866 broad.mit.edu 37 20 32440005 32440005 + Silent SNP A A G TCGA-38-4628-01A-01D-1265-08 TCGA-38-4628-11A-01D-1265-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 67bc44b7-92cf-4e8f-a7f6-c53bf34a17c6 850c7f34-0d4a-4e8e-a9a3-c4563d4dcb04 g.chr20:32440005A>G uc002xaa.2 + 4 762 c.606A>G c.(604-606)AAA>AAG p.K202K NM_176812 NP_789782 Q9H444 CHM4B_HUMAN chromatin modifying protein 4B 202 cellular membrane organization|endosome transport|protein transport cytosol|late endosome membrane protein binding ovary(1)|central_nervous_system(1) 2 TACCATCAAAACCCGGTGAGT 0.493 NA 56 259 0 0 0.01441 0 0 ZNF831 128611 broad.mit.edu 37 20 57768042 57768042 + Silent SNP G G T TCGA-38-4628-01A-01D-1265-08 TCGA-38-4628-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 67bc44b7-92cf-4e8f-a7f6-c53bf34a17c6 850c7f34-0d4a-4e8e-a9a3-c4563d4dcb04 g.chr20:57768042G>T uc002yan.2 + 1 1968 c.1968G>T c.(1966-1968)CTG>CTT p.L656L NM_178457 NP_848552 Q5JPB2 ZN831_HUMAN zinc finger protein 831 656 intracellular nucleic acid binding|zinc ion binding skin(13)|ovary(1) 14 all_lung(29;0.0085) GGGCAGAACTGGGCTTTCCTC 0.582 NA 14 121 0.000151284 0.000168188 0.001855 1 0 CHRNA4 1137 broad.mit.edu 37 20 61990970 61990970 + Missense_Mutation SNP C C T TCGA-38-4628-01A-01D-1265-08 TCGA-38-4628-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 67bc44b7-92cf-4e8f-a7f6-c53bf34a17c6 850c7f34-0d4a-4e8e-a9a3-c4563d4dcb04 g.chr20:61990970C>T uc002yes.2 - 2 336 c.158G>A c.(157-159)CGA>CAA p.R53Q CHRNA4_uc002yet.1_Intron|CHRNA4_uc011aaw.1_RNA|CHRNA4_uc010gke.1_5'UTR|CHRNA4_uc002yev.1_5'UTR|CHRNA4_uc010gkf.1_5'UTR NM_000744 NP_000735 P43681 ACHA4_HUMAN cholinergic receptor, nicotinic, alpha 4 subunit 53 Extracellular (Potential). B cell activation|behavioral response to nicotine|calcium ion transport|cognition|DNA repair|membrane depolarization|regulation of action potential|regulation of dopamine secretion|regulation of inhibitory postsynaptic membrane potential|response to hypoxia|response to oxidative stress|sensory perception of pain|synaptic transmission, cholinergic cell junction|dendrite|external side of plasma membrane|membrane fraction|neuronal cell body|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity central_nervous_system(1)|skin(1) 2 all_cancers(38;1.71e-10) Nicotine(DB00184)|Varenicline(DB01273) GGCCACGGGTCGGGACCACTT 0.647 NA 22 95 0 0 0.004656 0 0 CYYR1 116159 broad.mit.edu 37 21 27852642 27852642 + Missense_Mutation SNP G G A TCGA-38-4628-01A-01D-1265-08 TCGA-38-4628-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 67bc44b7-92cf-4e8f-a7f6-c53bf34a17c6 850c7f34-0d4a-4e8e-a9a3-c4563d4dcb04 g.chr21:27852642G>A uc002ymd.2 - 3 605 c.283C>T c.(283-285)CGC>TGC p.R95C CYYR1_uc011ack.1_RNA|CYYR1_uc002yme.2_Missense_Mutation_p.R95C NM_052954 NP_443186 Q96J86 CYYR1_HUMAN cysteine and tyrosine-rich 1 protein precursor 95 Cytoplasmic (Potential). integral to membrane 0 ATGCCCACGCGGGTCGCCCTG 0.498 NA 40 150 0 0 0.00874 0 0 RWDD2B 10069 broad.mit.edu 37 21 30378852 30378852 + Missense_Mutation SNP G G T TCGA-38-4628-01A-01D-1265-08 TCGA-38-4628-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 67bc44b7-92cf-4e8f-a7f6-c53bf34a17c6 850c7f34-0d4a-4e8e-a9a3-c4563d4dcb04 g.chr21:30378852G>T uc002yms.2 - 5 933 c.846C>A c.(844-846)TTC>TTA p.F282L RWDD2B_uc002ymt.2_Missense_Mutation_p.F253L|RWDD2B_uc002ymu.2_RNA|RWDD2B_uc002ymv.2_Missense_Mutation_p.F202L NM_016940 NP_058636 P57060 RWD2B_HUMAN RWD domain containing 2B 282 0 CATTAACACTGAACACTTTTT 0.388 NA 18 130 6.49762e-13 8.3421e-13 0.006122 1 0 CSTB 1476 broad.mit.edu 37 21 45194608 45194608 + Missense_Mutation SNP C C G TCGA-38-4628-01A-01D-1265-08 TCGA-38-4628-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 67bc44b7-92cf-4e8f-a7f6-c53bf34a17c6 850c7f34-0d4a-4e8e-a9a3-c4563d4dcb04 g.chr21:45194608C>G uc002zdr.2 - 2 208 c.99G>C c.(97-99)AAG>AAC p.K33N NM_000100 NP_000091 P04080 CYTB_HUMAN cystatin B 33 cytoplasm|nucleolus cysteine-type endopeptidase inhibitor activity|protease binding 0 STAD - Stomach adenocarcinoma(101;0.168) CAGGGAACTTCTTGTTTTCTT 0.522 Esophageal Squamous(58;831 1093 17019 29789 35147) NA 4 184 0 0 0.001168 0 0 TRPM2 7226 broad.mit.edu 37 21 45821603 45821603 + Silent SNP C C T TCGA-38-4628-01A-01D-1265-08 TCGA-38-4628-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 67bc44b7-92cf-4e8f-a7f6-c53bf34a17c6 850c7f34-0d4a-4e8e-a9a3-c4563d4dcb04 g.chr21:45821603C>T uc002zet.1 + 17 2574 c.2361C>T c.(2359-2361)CGC>CGT p.R787R TRPM2_uc002zeu.1_Silent_p.R787R|TRPM2_uc002zew.1_Silent_p.R787R|TRPM2_uc010gpt.1_Silent_p.R787R|TRPM2_uc002zex.1_Silent_p.R573R|TRPM2_uc002zey.1_Silent_p.R300R NM_003307 NP_003298 O94759 TRPM2_HUMAN transient receptor potential cation channel, 787 Extracellular (Potential). integral to plasma membrane ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity ovary(1)|central_nervous_system(1)|pancreas(1) 3 CCGCGGCCCGCGCCCGTGCCT 0.647 NA 18 185 0 0 0.007413 0 0 KCNJ4 3761 broad.mit.edu 37 22 38824024 38824024 + Silent SNP C C T TCGA-38-4628-01A-01D-1265-08 TCGA-38-4628-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 67bc44b7-92cf-4e8f-a7f6-c53bf34a17c6 850c7f34-0d4a-4e8e-a9a3-c4563d4dcb04 g.chr22:38824024C>T uc003avs.1 - 2 211 c.114G>A c.(112-114)AAG>AAA p.K38K KCNJ4_uc003avt.1_Silent_p.K38K NM_004981 NP_004972 P48050 IRK4_HUMAN potassium inwardly-rectifying channel J4 38 Cytoplasmic (By similarity). synaptic transmission basolateral plasma membrane|voltage-gated potassium channel complex inward rectifier potassium channel activity|PDZ domain binding 0 Melanoma(58;0.0286) AGCGCTGCGACTTGTTGCTCA 0.627 NA 114 158 0 0 0.01441 0 0 SAPS2 9701 broad.mit.edu 37 22 50875986 50875986 + Missense_Mutation SNP T T G TCGA-38-4628-01A-01D-1265-08 TCGA-38-4628-11A-01D-1265-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 67bc44b7-92cf-4e8f-a7f6-c53bf34a17c6 850c7f34-0d4a-4e8e-a9a3-c4563d4dcb04 g.chr22:50875986T>G uc003blb.1 + 17 2157 c.1735T>G c.(1735-1737)TTT>GTT p.F579V SAPS2_uc003bky.1_Missense_Mutation_p.F552V|SAPS2_uc003bkz.1_Missense_Mutation_p.F552V|SAPS2_uc003blc.2_Missense_Mutation_p.F579V|SAPS2_uc003bla.1_Missense_Mutation_p.F553V|SAPS2_uc003bld.1_Missense_Mutation_p.F111V NM_014678 NP_055493 O75170 PP6R2_HUMAN SAPS domain family, member 2 579 cytoplasm|intracellular membrane-bounded organelle protein binding 0 all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113) BRCA - Breast invasive adenocarcinoma(115;0.222) CGTGGATCAGTTTGGCTTCAA 0.483 NA 10 24 0 0 0.001855 0 0 SHISA5 51246 broad.mit.edu 37 3 48510922 48510922 + Nonsense_Mutation SNP G G A TCGA-38-4628-01A-01D-1265-08 TCGA-38-4628-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 67bc44b7-92cf-4e8f-a7f6-c53bf34a17c6 850c7f34-0d4a-4e8e-a9a3-c4563d4dcb04 g.chr3:48510922G>A uc003ctp.1 - 5 615 c.481C>T c.(481-483)CAG>TAG p.Q161* SHISA5_uc003ctn.1_Missense_Mutation_p.S29L|SHISA5_uc003ctm.1_Nonsense_Mutation_p.Q58*|SHISA5_uc011bbk.1_Missense_Mutation_p.S69L|SHISA5_uc003cto.1_Nonsense_Mutation_p.Q130*|SHISA5_uc003ctq.1_Nonsense_Mutation_p.Q154*|SHISA5_uc003ctr.1_Nonsense_Mutation_p.Q130*|SHISA5_uc003cts.1_Nonsense_Mutation_p.Q130*|SHISA5_uc003ctt.2_Nonsense_Mutation_p.Q58*|SHISA5_uc003ctu.1_RNA|SHISA5_uc011bbl.1_Nonsense_Mutation_p.Q59* NM_016479 NP_057563 Q8N114 SHSA5_HUMAN scotin precursor 161 Cytoplasmic (Potential).|Pro-rich. apoptosis|positive regulation of I-kappaB kinase/NF-kappaB cascade endoplasmic reticulum membrane|integral to membrane|nuclear membrane signal transducer activity|WW domain binding 0 CTTGGAGGCTGAGGATAAGGG 0.602 NA 5 73 0 0 0.000602 0 0 NISCH 11188 broad.mit.edu 37 3 52492774 52492774 + Missense_Mutation SNP C C A TCGA-38-4628-01A-01D-1265-08 TCGA-38-4628-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 67bc44b7-92cf-4e8f-a7f6-c53bf34a17c6 850c7f34-0d4a-4e8e-a9a3-c4563d4dcb04 g.chr3:52492774C>A uc011beg.1 + 4 346 c.274C>A c.(274-276)CTG>ATG p.L92M NISCH_uc003ded.3_Missense_Mutation_p.L92M|NISCH_uc003dec.1_Missense_Mutation_p.L92M NM_007184 NP_009115 Q9Y2I1 NISCH_HUMAN nischarin 92 PX.|Necessary for binding to phosphoinositide-3-P; not sufficient for targeting to endosomes. apoptosis|cell communication cytosol|early endosome|plasma membrane|recycling endosome phosphatidylinositol binding|receptor activity ovary(3)|central_nervous_system(1) 4 BRCA - Breast invasive adenocarcinoma(193;1.93e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)|OV - Ovarian serous cystadenocarcinoma(275;0.0577) GGAGAAGGATCTGGAGGTCTA 0.483 NA 13 100 4.36969e-10 5.33478e-10 0.001855 1 0 EPHA6 285220 broad.mit.edu 37 3 96706597 96706597 + Missense_Mutation SNP G G A TCGA-38-4628-01A-01D-1265-08 TCGA-38-4628-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 67bc44b7-92cf-4e8f-a7f6-c53bf34a17c6 850c7f34-0d4a-4e8e-a9a3-c4563d4dcb04 g.chr3:96706597G>A uc010how.1 + 3 917 c.874G>A c.(874-876)GTT>ATT p.V292I EPHA6_uc003drp.1_Missense_Mutation_p.V292I NM_001080448 NP_001073917 Q9UF33 EPHA6_HUMAN EPH receptor A6 isoform a 197 Ephrin-binding.|Extracellular (Potential). integral to plasma membrane ATP binding|ephrin receptor activity stomach(5)|lung(4)|central_nervous_system(3)|breast(1)|skin(1)|ovary(1)|kidney(1) 16 CATTGCCCTGGTTTCAGTCCG 0.458 NA 23 247 0 0 0.003954 0 0 CD200 4345 broad.mit.edu 37 3 112068659 112068659 + Missense_Mutation SNP G G C TCGA-38-4628-01A-01D-1265-08 TCGA-38-4628-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 67bc44b7-92cf-4e8f-a7f6-c53bf34a17c6 850c7f34-0d4a-4e8e-a9a3-c4563d4dcb04 g.chr3:112068659G>C uc003dyw.2 + 6 1014 c.870G>C c.(868-870)CAG>CAC p.Q290H CD200_uc010hqd.1_Missense_Mutation_p.Q149H|CD200_uc003dyx.2_Missense_Mutation_p.Q265H|CD200_uc003dyy.2_Missense_Mutation_p.Q149H|CD200_uc003dyz.2_Missense_Mutation_p.Q191H NM_001004196 NP_001004196 P41217 OX2G_HUMAN CD200 antigen isoform b 265 Cytoplasmic (Potential). regulation of immune response integral to plasma membrane 0 Acute lymphoblastic leukemia(4;1.7e-08)|all_hematologic(4;8.82e-05) ACCGGAATCAGGACCGAGGTG 0.363 NA 19 49 0 0 0.007413 0 0 GPR156 165829 broad.mit.edu 37 3 119886215 119886215 + Silent SNP G G A TCGA-38-4628-01A-01D-1265-08 TCGA-38-4628-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 67bc44b7-92cf-4e8f-a7f6-c53bf34a17c6 850c7f34-0d4a-4e8e-a9a3-c4563d4dcb04 g.chr3:119886215G>A uc011bjf.1 - 9 2109 c.2109C>T c.(2107-2109)GGC>GGT p.G703G GPR156_uc011bjg.1_Silent_p.G699G NM_153002 NP_694547 Q8NFN8 GP156_HUMAN G protein-coupled receptor 156 703 Cytoplasmic (Potential). integral to membrane|plasma membrane G-protein coupled receptor activity|GABA-B receptor activity ovary(1)|skin(1) 2 GBM - Glioblastoma multiforme(114;0.19) TTGGGGCCCGGCCAGAACCAG 0.637 NA 4 107 0 0 0.009096 0 0 PARP14 54625 broad.mit.edu 37 3 122446793 122446793 + Silent SNP C C T TCGA-38-4628-01A-01D-1265-08 TCGA-38-4628-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 67bc44b7-92cf-4e8f-a7f6-c53bf34a17c6 850c7f34-0d4a-4e8e-a9a3-c4563d4dcb04 g.chr3:122446793C>T uc003efq.3 + 16 5135 c.5076C>T c.(5074-5076)GTC>GTT p.V1692V PARP14_uc010hrk.2_RNA|PARP14_uc003efr.2_Silent_p.V1409V NM_017554 NP_060024 Q460N5 PAR14_HUMAN poly (ADP-ribose) polymerase family, member 14 1692 PARP catalytic. regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus|plasma membrane NAD+ ADP-ribosyltransferase activity ovary(2)|breast(2)|lung(1)|pancreas(1) 6 GBM - Glioblastoma multiforme(114;0.0531) TGCCACACGTCAATCGAAATG 0.502 NA 44 20 0 0 0.01441 0 0 CP 1356 broad.mit.edu 37 3 148903209 148903209 + Missense_Mutation SNP G G A TCGA-38-4628-01A-01D-1265-08 TCGA-38-4628-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 67bc44b7-92cf-4e8f-a7f6-c53bf34a17c6 850c7f34-0d4a-4e8e-a9a3-c4563d4dcb04 g.chr3:148903209G>A uc003ewy.3 - 12 2355 c.2102C>T c.(2101-2103)ACA>ATA p.T701I CP_uc011bnr.1_RNA|CP_uc003ewx.3_Missense_Mutation_p.T482I|CP_uc003ewz.2_Missense_Mutation_p.T701I NM_000096 NP_000087 P00450 CERU_HUMAN ceruloplasmin precursor 701 Plastocyanin-like 4.|F5/8 type A 2. cellular iron ion homeostasis|copper ion transport|transmembrane transport extracellular space chaperone binding|ferroxidase activity ovary(1) 1 Prostate(884;0.00217)|Hepatocellular(537;0.00826)|Myeloproliferative disorder(1037;0.0122)|all_neural(597;0.0189)|Melanoma(1037;0.152) LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607) Drotrecogin alfa(DB00055) ATGATCAGTTGTAAGGCATTC 0.313 NA 70 102 0 0 0.01441 0 0 IGSF10 285313 broad.mit.edu 37 3 151155695 151155695 + Silent SNP G G A TCGA-38-4628-01A-01D-1265-08 TCGA-38-4628-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 67bc44b7-92cf-4e8f-a7f6-c53bf34a17c6 850c7f34-0d4a-4e8e-a9a3-c4563d4dcb04 g.chr3:151155695G>A uc011bod.1 - 6 6654 c.6654C>T c.(6652-6654)CCC>CCT p.P2218P IGSF10_uc011bob.1_Silent_p.P245P|IGSF10_uc011boc.1_Silent_p.P197P NM_178822 NP_849144 Q6WRI0 IGS10_HUMAN immunoglobulin superfamily, member 10 precursor 2218 Ig-like C2-type 8. cell differentiation|multicellular organismal development|ossification extracellular region skin(7)|ovary(5)|central_nervous_system(1) 13 LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517) CATCCCCACTGGGATTTCGGG 0.423 NA 54 111 0 0 0.01441 0 0 YEATS2 55689 broad.mit.edu 37 3 183476724 183476724 + Missense_Mutation SNP G G A TCGA-38-4628-01A-01D-1265-08 TCGA-38-4628-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 67bc44b7-92cf-4e8f-a7f6-c53bf34a17c6 850c7f34-0d4a-4e8e-a9a3-c4563d4dcb04 g.chr3:183476724G>A uc003fly.2 + 13 1822 c.1627G>A c.(1627-1629)GGA>AGA p.G543R NM_018023 NP_060493 Q9ULM3 YETS2_HUMAN YEATS domain containing 2 543 histone H3 acetylation|negative regulation of transcription from RNA polymerase II promoter Ada2/Gcn5/Ada3 transcription activator complex TBP-class protein binding ovary(3)|large_intestine(1) 4 all_cancers(143;6.55e-10)|Ovarian(172;0.0303) all cancers(12;2.38e-42)|Epithelial(37;1.9e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22) TAAAATTCATGGAAGTAGTTT 0.353 NA 39 101 0 0 0.009718 0 0 SDHAP1 255812 broad.mit.edu 37 3 195701285 195701285 + Silent SNP G G T TCGA-38-4628-01A-01D-1265-08 TCGA-38-4628-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 67bc44b7-92cf-4e8f-a7f6-c53bf34a17c6 850c7f34-0d4a-4e8e-a9a3-c4563d4dcb04 g.chr3:195701285G>T uc011btq.1 - 8 1208 c.579C>A c.(577-579)CGC>CGA p.R193R SDHAP1_uc003fvx.3_RNA|SDHAP1_uc011btp.1_RNA SubName: Full=cDNA FLJ56858, highly similar to Succinate dehydrogenase (ubiquinone) flavoprotein subunit, mitochondrial (EC 1.3.5.1); 0 GCACGACTCTGCGATGCTCAG 0.537 Ovarian(67;1158 1227 12109 20189 43170) NA 10 35 7.93312e-07 9.12538e-07 0.00245 1 0 SDHAP1 255812 broad.mit.edu 37 3 195701304 195701304 + Missense_Mutation SNP C C T TCGA-38-4628-01A-01D-1265-08 TCGA-38-4628-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 67bc44b7-92cf-4e8f-a7f6-c53bf34a17c6 850c7f34-0d4a-4e8e-a9a3-c4563d4dcb04 g.chr3:195701304C>T uc011btq.1 - 8 1189 c.560G>A c.(559-561)GGC>GAC p.G187D SDHAP1_uc003fvx.3_RNA|SDHAP1_uc011btp.1_RNA SubName: Full=cDNA FLJ56858, highly similar to Succinate dehydrogenase (ubiquinone) flavoprotein subunit, mitochondrial (EC 1.3.5.1); 0 AGGGCACATGCCTGACCAGAC 0.572 Ovarian(67;1158 1227 12109 20189 43170) NA 13 45 0 0 0.00499 0 0 HGFAC 3083 broad.mit.edu 37 4 3446354 3446354 + Nonsense_Mutation SNP T T A TCGA-38-4628-01A-01D-1265-08 TCGA-38-4628-11A-01D-1265-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 67bc44b7-92cf-4e8f-a7f6-c53bf34a17c6 850c7f34-0d4a-4e8e-a9a3-c4563d4dcb04 g.chr4:3446354T>A uc003ghc.2 + 7 738 c.735T>A c.(733-735)TGT>TGA p.C245* HGFAC_uc010icw.2_Nonsense_Mutation_p.C245* NM_001528 NP_001519 Q04756 HGFA_HUMAN HGF activator preproprotein 245 EGF-like 2. proteolysis extracellular space protein binding|serine-type endopeptidase activity central_nervous_system(2) 2 UCEC - Uterine corpus endometrioid carcinoma (64;0.163) CCCCAGCTTGTCTGAGCAGCC 0.711 NA 4 11 0 0 0.009096 0 0 LDB2 9079 broad.mit.edu 37 4 16760880 16760880 + Missense_Mutation SNP T T G TCGA-38-4628-01A-01D-1265-08 TCGA-38-4628-11A-01D-1265-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 67bc44b7-92cf-4e8f-a7f6-c53bf34a17c6 850c7f34-0d4a-4e8e-a9a3-c4563d4dcb04 g.chr4:16760880T>G uc003goz.2 - 2 452 c.136A>C c.(136-138)AGT>CGT p.S46R LDB2_uc003gpa.2_Missense_Mutation_p.S46R|LDB2_uc003gpb.2_Missense_Mutation_p.S46R|LDB2_uc011bxh.1_Missense_Mutation_p.S46R|LDB2_uc010iee.2_Missense_Mutation_p.S46R NM_001290 NP_001281 O43679 LDB2_HUMAN LIM domain binding 2 isoform a 46 LIM domain binding|transcription cofactor activity 0 AGGTTGTCACTATCCTGCAAA 0.413 NA 4 134 0 0 0.001168 0 0 TLR6 10333 broad.mit.edu 37 4 38829252 38829252 + Missense_Mutation SNP G G C TCGA-38-4628-01A-01D-1265-08 TCGA-38-4628-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 67bc44b7-92cf-4e8f-a7f6-c53bf34a17c6 850c7f34-0d4a-4e8e-a9a3-c4563d4dcb04 g.chr4:38829252G>C uc003gtm.2 - 1 1909 c.1843C>G c.(1843-1845)CTC>GTC p.L615V TLR6_uc010ifg.1_Missense_Mutation_p.L615V NM_006068 NP_006059 Q9Y2C9 TLR6_HUMAN toll-like receptor 6 precursor 615 Cytoplasmic (Potential). activation of NF-kappaB-inducing kinase activity|cellular response to diacyl bacterial lipopeptide|defense response to bacterium|detection of diacyl bacterial lipopeptide|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-6 biosynthetic process|positive regulation of JUN kinase activity|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway integral to plasma membrane|phagocytic vesicle membrane lipopeptide binding|transmembrane receptor activity ovary(2) 2 ACCATCCTGAGATACCAGGGC 0.517 NA 24 186 0 0 0.00333 0 0 POLR2B 5431 broad.mit.edu 37 4 57889908 57889908 + Silent SNP T T C TCGA-38-4628-01A-01D-1265-08 TCGA-38-4628-11A-01D-1265-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 67bc44b7-92cf-4e8f-a7f6-c53bf34a17c6 850c7f34-0d4a-4e8e-a9a3-c4563d4dcb04 g.chr4:57889908T>C uc003hcl.1 + 20 2890 c.2847T>C c.(2845-2847)TAT>TAC p.Y949Y POLR2B_uc011cae.1_Silent_p.Y942Y|POLR2B_uc011caf.1_Silent_p.Y874Y|POLR2B_uc003hcm.1_Silent_p.Y442Y NM_000938 NP_000929 P30876 RPB2_HUMAN DNA directed RNA polymerase II polypeptide B 949 mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction DNA-directed RNA polymerase II, core complex DNA binding|DNA-directed RNA polymerase activity|metal ion binding|protein binding|ribonucleoside binding ovary(2) 2 Glioma(25;0.08)|all_neural(26;0.181) GTATTCAGTATAGACAAGAGG 0.328 NA 49 99 0 0 0.01441 0 0 UGT8 7368 broad.mit.edu 37 4 115544374 115544374 + Missense_Mutation SNP A A T TCGA-38-4628-01A-01D-1265-08 TCGA-38-4628-11A-01D-1265-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 67bc44b7-92cf-4e8f-a7f6-c53bf34a17c6 850c7f34-0d4a-4e8e-a9a3-c4563d4dcb04 g.chr4:115544374A>T uc003ibs.2 + 2 860 c.338A>T c.(337-339)AAC>ATC p.N113I UGT8_uc003ibt.2_Missense_Mutation_p.N113I|UGT8_uc011cge.1_RNA NM_001128174 NP_001121646 Q16880 CGT_HUMAN UDP-galactose-ceramide galactosyltransferase 8 113 central nervous system development|peripheral nervous system development integral to membrane 2-hydroxyacylsphingosine 1-beta-galactosyltransferase activity|UDP-galactose:glucosylceramide beta-1,4-galactosyltransferase activity ovary(1)|skin(1) 2 Ovarian(17;0.156) OV - Ovarian serous cystadenocarcinoma(123;0.000632) TATACTAAGAACTGTGACCTG 0.448 NA 4 157 0 0 0.009096 0 0 DNAH5 1767 broad.mit.edu 37 5 13776694 13776694 + Missense_Mutation SNP C C A TCGA-38-4628-01A-01D-1265-08 TCGA-38-4628-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 67bc44b7-92cf-4e8f-a7f6-c53bf34a17c6 850c7f34-0d4a-4e8e-a9a3-c4563d4dcb04 g.chr5:13776694C>A uc003jfd.2 - 55 9269 c.9227G>T c.(9226-9228)AGT>ATT p.S3076I NM_001369 NP_001360 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 3076 AAA 4 (By similarity). microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity ovary(14)|skin(13)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|pancreas(1) 31 Lung NSC(4;0.00476) TCGGACCCGACTCATGAAGTA 0.463 NA Kartagener_syndrome 31 129 5.90632e-09 7.08047e-09 0.012213 1 0 FBXL7 23194 broad.mit.edu 37 5 15928521 15928521 + Missense_Mutation SNP T T G TCGA-38-4628-01A-01D-1265-08 TCGA-38-4628-11A-01D-1265-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 67bc44b7-92cf-4e8f-a7f6-c53bf34a17c6 850c7f34-0d4a-4e8e-a9a3-c4563d4dcb04 g.chr5:15928521T>G uc003jfn.1 + 3 1131 c.650T>G c.(649-651)CTG>CGG p.L217R NM_012304 NP_036436 Q9UJT9 FBXL7_HUMAN F-box and leucine-rich repeat protein 7 217 LRR 2. ubiquitin-dependent protein catabolic process ubiquitin ligase complex protein binding|ubiquitin-protein ligase activity ovary(2)|lung(1) 3 CTGAGGCGACTGGAAGTCTCA 0.562 NA 22 87 0 0 0.004656 0 0 MEGF10 84466 broad.mit.edu 37 5 126676236 126676236 + Missense_Mutation SNP C C A TCGA-38-4628-01A-01D-1265-08 TCGA-38-4628-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 67bc44b7-92cf-4e8f-a7f6-c53bf34a17c6 850c7f34-0d4a-4e8e-a9a3-c4563d4dcb04 g.chr5:126676236C>A uc003kuh.3 + 5 595 c.233C>A c.(232-234)ACA>AAA p.T78K MEGF10_uc010jdc.1_Missense_Mutation_p.T78K|MEGF10_uc010jdd.1_Missense_Mutation_p.T78K|MEGF10_uc003kui.3_Missense_Mutation_p.T78K NM_032446 NP_115822 Q96KG7 MEG10_HUMAN multiple EGF-like-domains 10 precursor 78 Extracellular (Potential).|Necessary for interaction with AP2M1, self-assembly and formation of the irregular, mosaic-like adhesion pattern.|EMI. cell adhesion|phagocytosis basolateral plasma membrane|cell projection|integral to membrane|phagocytic cup ovary(4) 4 Prostate(80;0.165) KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488) OV - Ovarian serous cystadenocarcinoma(64;0.0657)|Epithelial(69;0.123) AGCTATCGGACAGCCTATCGA 0.373 NA 12 72 2.27111e-07 2.64299e-07 0.013537 1 0 PCDHA7 56141 broad.mit.edu 37 5 140214302 140214302 + Missense_Mutation SNP A A T TCGA-38-4628-01A-01D-1265-08 TCGA-38-4628-11A-01D-1265-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 67bc44b7-92cf-4e8f-a7f6-c53bf34a17c6 850c7f34-0d4a-4e8e-a9a3-c4563d4dcb04 g.chr5:140214302A>T uc003lhq.2 + 1 334 c.334A>T c.(334-336)AGG>TGG p.R112W PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc011dac.1_Missense_Mutation_p.R112W NM_018910 NP_061733 Q9UN72 PCDA7_HUMAN protocadherin alpha 7 isoform 1 precursor 112 Cadherin 1.|Extracellular (Potential). homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding|protein binding ovary(2)|skin(2) 4 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GATCGTGGAAAGGCCGCTGCA 0.562 NSCLC(160;258 2013 5070 22440 28951) NA 36 363 0 0 0.009718 0 0 FBXO38 81545 broad.mit.edu 37 5 147782066 147782066 + Silent SNP A A G TCGA-38-4628-01A-01D-1265-08 TCGA-38-4628-11A-01D-1265-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 67bc44b7-92cf-4e8f-a7f6-c53bf34a17c6 850c7f34-0d4a-4e8e-a9a3-c4563d4dcb04 g.chr5:147782066A>G uc003lpf.1 + 5 702 c.582A>G c.(580-582)TTA>TTG p.L194L FBXO38_uc003lpg.1_Silent_p.L194L|FBXO38_uc003lph.2_Silent_p.L194L NM_205836 NP_995308 Q6PIJ6 FBX38_HUMAN F-box protein 38 isoform b 194 cytoplasm|nucleus ovary(4)|skin(2) 6 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TTCAAACTTTACATTTAGTTG 0.318 NA 28 55 0 0 0.007291 0 0 RANBP17 64901 broad.mit.edu 37 5 170319516 170319516 + Missense_Mutation SNP G G A TCGA-38-4628-01A-01D-1265-08 TCGA-38-4628-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 67bc44b7-92cf-4e8f-a7f6-c53bf34a17c6 850c7f34-0d4a-4e8e-a9a3-c4563d4dcb04 g.chr5:170319516G>A uc003mba.2 + 4 398 c.382G>A c.(382-384)GTC>ATC p.V128I RANBP17_uc003max.1_RNA|RANBP17_uc003may.1_RNA|RANBP17_uc003maz.1_RNA|RANBP17_uc010jjr.1_RNA|RANBP17_uc003maw.2_Missense_Mutation_p.V128I|RANBP17_uc011dew.1_Missense_Mutation_p.V128I NM_022897 NP_075048 Q9H2T7 RBP17_HUMAN RAN binding protein 17 128 mRNA transport|protein import into nucleus|transmembrane transport cytoplasm|nuclear pore GTP binding|protein transporter activity ovary(2)|central_nervous_system(1) 3 Renal(175;0.000159)|Lung NSC(126;0.00751)|all_lung(126;0.0123) Medulloblastoma(196;0.0399)|all_neural(177;0.0966) Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516) AGACCAATTTGTCTTCAGAGA 0.388 NA T TRD@ ALL 61 156 0 0 0.01441 0 0 SCGN 10590 broad.mit.edu 37 6 25665258 25665258 + Missense_Mutation SNP C C G TCGA-38-4628-01A-01D-1265-08 TCGA-38-4628-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 67bc44b7-92cf-4e8f-a7f6-c53bf34a17c6 850c7f34-0d4a-4e8e-a9a3-c4563d4dcb04 g.chr6:25665258C>G uc003nfb.2 + 4 537 c.334C>G c.(334-336)CAG>GAG p.Q112E SCGN_uc010jpz.2_Missense_Mutation_p.C21W NM_006998 NP_008929 O76038 SEGN_HUMAN secretagogin precursor 112 EF-hand 3. extracellular region|transport vesicle membrane calcium ion binding ovary(2)|pancreas(1) 3 GGAGTTTATGCAGGTGAGTGC 0.512 NA 11 80 0 0 0.008291 0 0 BAT3 7917 broad.mit.edu 37 6 31612875 31612875 + Missense_Mutation SNP G G C TCGA-38-4628-01A-01D-1265-08 TCGA-38-4628-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 67bc44b7-92cf-4e8f-a7f6-c53bf34a17c6 850c7f34-0d4a-4e8e-a9a3-c4563d4dcb04 g.chr6:31612875G>C uc003nvg.3 - 10 1549 c.1235C>G c.(1234-1236)TCC>TGC p.S412C BAT3_uc003nvf.3_Missense_Mutation_p.S406C|BAT3_uc003nvh.3_Missense_Mutation_p.S406C|BAT3_uc003nvi.3_Missense_Mutation_p.S406C|BAT3_uc011dnw.1_Missense_Mutation_p.S406C|BAT3_uc011dnx.1_Missense_Mutation_p.S406C|BAT3_uc003nvj.1_Missense_Mutation_p.S406C NM_004639 NP_004630 P46379 BAG6_HUMAN HLA-B associated transcript-3 isoform a 412 Pro-rich.|4 X 29 AA approximate repeats. apoptosis in response to endoplasmic reticulum stress|brain development|cell differentiation|chromatin modification|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|embryo development|internal peptidyl-lysine acetylation|kidney development|lung development|negative regulation of proteasomal ubiquitin-dependent protein catabolic process|protein stabilization|spermatogenesis|synaptonemal complex assembly|tail-anchored membrane protein insertion into ER membrane|transport|ubiquitin-dependent protein catabolic process BAT3 complex|nucleus polyubiquitin binding|proteasome binding|ribosome binding 0 CGGAGCCACGGATGAGGCCTG 0.657 NA 17 144 0 0 0.008871 0 0 SFRS18 25957 broad.mit.edu 37 6 99848691 99848691 + Nonsense_Mutation SNP G G A TCGA-38-4628-01A-01D-1265-08 TCGA-38-4628-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 67bc44b7-92cf-4e8f-a7f6-c53bf34a17c6 850c7f34-0d4a-4e8e-a9a3-c4563d4dcb04 g.chr6:99848691G>A uc003ppo.3 - 12 2371 c.2143C>T c.(2143-2145)CGA>TGA p.R715* SFRS18_uc003ppl.2_Nonsense_Mutation_p.R261*|SFRS18_uc003ppp.3_Nonsense_Mutation_p.R715*|SFRS18_uc011eag.1_Nonsense_Mutation_p.R715* NM_032870 NP_116259 Q8TF01 PNISR_HUMAN splicing factor, arginine/serine-rich 130 715 nuclear speck 0 all_cancers(76;1.24e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.00716)|Colorectal(196;0.0691)|Lung NSC(302;0.186) BRCA - Breast invasive adenocarcinoma(108;0.0631) TCACTTTCTCGTTTCCTTTTT 0.224 NA 6 59 0 0 0.001984 0 0 TAGAP 117289 broad.mit.edu 37 6 159464670 159464670 + Missense_Mutation SNP A A T TCGA-38-4628-01A-01D-1265-08 TCGA-38-4628-11A-01D-1265-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 67bc44b7-92cf-4e8f-a7f6-c53bf34a17c6 850c7f34-0d4a-4e8e-a9a3-c4563d4dcb04 g.chr6:159464670A>T uc003qrz.2 - 4 431 c.99T>A c.(97-99)CAT>CAA p.H33Q TAGAP_uc011eft.1_5'Flank|TAGAP_uc003qsa.2_5'UTR|TAGAP_uc003qsb.2_Missense_Mutation_p.H33Q|uc003qsc.2_Intron NM_054114 NP_473455 Q8N103 TAGAP_HUMAN T-cell activation Rho GTPase-activating protein 33 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity|guanyl-nucleotide exchange factor activity ovary(1) 1 Breast(66;0.000776)|Ovarian(120;0.0303) OV - Ovarian serous cystadenocarcinoma(65;2.16e-16)|BRCA - Breast invasive adenocarcinoma(81;5.87e-06) CCAACAGGGGATGTTCCTTGA 0.373 NA 9 339 0 0 0.004482 0 0 MRPL18 29074 broad.mit.edu 37 6 160218467 160218467 + Nonsense_Mutation SNP C C T TCGA-38-4628-01A-01D-1265-08 TCGA-38-4628-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 67bc44b7-92cf-4e8f-a7f6-c53bf34a17c6 850c7f34-0d4a-4e8e-a9a3-c4563d4dcb04 g.chr6:160218467C>T uc003qsw.3 + 3 516 c.388C>T c.(388-390)CGA>TGA p.R130* MRPL18_uc010kkb.2_RNA|PNLDC1_uc003qsx.1_5'Flank|PNLDC1_uc003qsy.1_5'Flank NM_014161 NP_054880 Q9H0U6 RM18_HUMAN mitochondrial ribosomal protein L18 precursor 130 rRNA transport|translation mitochondrial ribosome 5S rRNA binding|structural constituent of ribosome 0 Breast(66;0.000776)|Ovarian(120;0.0303) OV - Ovarian serous cystadenocarcinoma(65;1.44e-18)|BRCA - Breast invasive adenocarcinoma(81;5.79e-06) GAGTATAGGACGAGTGCTGGC 0.493 NA 20 74 0 0 0.003954 0 0 SUN1 23353 broad.mit.edu 37 7 901102 901102 + Splice_Site SNP G G A TCGA-38-4628-01A-01D-1265-08 TCGA-38-4628-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 67bc44b7-92cf-4e8f-a7f6-c53bf34a17c6 850c7f34-0d4a-4e8e-a9a3-c4563d4dcb04 g.chr7:901102G>A uc011jvp.1 + 16 1943 c.1864_splice c.e16+1 p.G622_splice GET4_uc003sjj.1_Splice_Site|SUN1_uc003sjf.2_Splice_Site_p.G539_splice|SUN1_uc011jvq.1_Splice_Site_p.G519_splice|SUN1_uc003sjg.2_Splice_Site_p.G527_splice|SUN1_uc011jvr.1_Splice_Site_p.G420_splice|SUN1_uc003sji.2_Splice_Site_p.G460_splice|SUN1_uc003sjk.2_Splice_Site_p.G261_splice NM_001130965 NP_001124437 O94901 SUN1_HUMAN unc-84 homolog A isoform a cytoskeletal anchoring at nuclear membrane|nuclear matrix anchoring at nuclear membrane integral to membrane|nuclear inner membrane|SUN-KASH complex protein binding 0 GAATCTGGTGGTGAGTAAATA 0.507 NA 62 80 0 0 0.01441 0 0 DNAH11 8701 broad.mit.edu 37 7 21784217 21784217 + Missense_Mutation SNP A A T TCGA-38-4628-01A-01D-1265-08 TCGA-38-4628-11A-01D-1265-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 67bc44b7-92cf-4e8f-a7f6-c53bf34a17c6 850c7f34-0d4a-4e8e-a9a3-c4563d4dcb04 g.chr7:21784217A>T uc003svc.2 + 51 8368 c.8337A>T c.(8335-8337)GAA>GAT p.E2779D NM_003777 NP_003768 Q96DT5 DYH11_HUMAN dynein, axonemal, heavy chain 11 2779 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 AATATTTTGAAGTAAGCGTAT 0.388 NA Kartagener_syndrome 11 92 0 0 0.008291 0 0 VPS41 27072 broad.mit.edu 37 7 38791781 38791781 + Missense_Mutation SNP C C T TCGA-38-4628-01A-01D-1265-08 TCGA-38-4628-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 67bc44b7-92cf-4e8f-a7f6-c53bf34a17c6 850c7f34-0d4a-4e8e-a9a3-c4563d4dcb04 g.chr7:38791781C>T uc003tgy.2 - 22 1947 c.1921G>A c.(1921-1923)GAA>AAA p.E641K VPS41_uc003tgz.2_Missense_Mutation_p.E616K|VPS41_uc010kxn.2_Missense_Mutation_p.E552K NM_014396 NP_055211 P49754 VPS41_HUMAN vacuolar protein sorting 41 isoform 1 641 Clathrin. Golgi vesicle transport|intracellular protein transport|vesicle-mediated transport cytosol|Golgi-associated vesicle|HOPS complex|membrane fraction zinc ion binding skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1) 4 CTTACCTTTTCAAGTGGGCAA 0.423 NA 5 275 0 0 0.000602 0 0 GLI3 2737 broad.mit.edu 37 7 42006187 42006187 + Silent SNP C C T TCGA-38-4628-01A-01D-1265-08 TCGA-38-4628-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 67bc44b7-92cf-4e8f-a7f6-c53bf34a17c6 850c7f34-0d4a-4e8e-a9a3-c4563d4dcb04 g.chr7:42006187C>T uc011kbh.1 - 15 2575 c.2484G>A c.(2482-2484)CCG>CCA p.P828P GLI3_uc011kbg.1_Silent_p.P769P NM_000168 NP_000159 P10071 GLI3_HUMAN GLI-Kruppel family member GLI3 828 negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis cilium|cytosol|nucleolus beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding lung(11)|ovary(3)|large_intestine(2)|central_nervous_system(1)|kidney(1)|pancreas(1) 19 CGCTTCTGCCCGGGAGAAGCG 0.592 NA Greig_Cephalopolysyndactyly|Pallister-Hall_syndrome 20 195 0 0 0.012319 0 0 PKD1L1 168507 broad.mit.edu 37 7 47917203 47917203 + Missense_Mutation SNP C C G TCGA-38-4628-01A-01D-1265-08 TCGA-38-4628-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 67bc44b7-92cf-4e8f-a7f6-c53bf34a17c6 850c7f34-0d4a-4e8e-a9a3-c4563d4dcb04 g.chr7:47917203C>G uc003tny.1 - 22 3547 c.3547G>C c.(3547-3549)GCT>CCT p.A1183P NM_138295 NP_612152 Q8TDX9 PK1L1_HUMAN polycystin-1L1 1183 Extracellular (Potential).|REJ. cell-cell adhesion integral to membrane ovary(8)|upper_aerodigestive_tract(2)|breast(1) 11 TACAGCTGAGCTTTACCCAGT 0.498 NA 7 86 0 0 0.001984 0 0 SRCRB4D 136853 broad.mit.edu 37 7 76026893 76026893 + Silent SNP G G A TCGA-38-4628-01A-01D-1265-08 TCGA-38-4628-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 67bc44b7-92cf-4e8f-a7f6-c53bf34a17c6 850c7f34-0d4a-4e8e-a9a3-c4563d4dcb04 g.chr7:76026893G>A uc003ufb.2 - 6 1158 c.810C>T c.(808-810)AGC>AGT p.S270S ZP3_uc003ufc.3_5'UTR NM_080744 NP_542782 Q8WTU2 SRB4D_HUMAN scavenger receptor cysteine rich domain 270 SRCR 2. extracellular region|membrane scavenger receptor activity pancreas(1) 1 CCCAGCCCAGGCTCTGGCAGG 0.726 NA 5 6 0 0 0.010729 0 0 SEMA3D 223117 broad.mit.edu 37 7 84702345 84702345 + Missense_Mutation SNP A A C TCGA-38-4628-01A-01D-1265-08 TCGA-38-4628-11A-01D-1265-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 67bc44b7-92cf-4e8f-a7f6-c53bf34a17c6 850c7f34-0d4a-4e8e-a9a3-c4563d4dcb04 g.chr7:84702345A>C uc003uic.2 - 4 468 c.428T>G c.(427-429)ATA>AGA p.I143R SEMA3D_uc010led.2_Missense_Mutation_p.I143R|SEMA3D_uc010lee.1_Missense_Mutation_p.I143R NM_152754 NP_689967 O95025 SEM3D_HUMAN semaphorin 3D precursor 143 Sema. cell differentiation|nervous system development extracellular region|membrane receptor activity ovary(3)|large_intestine(2) 5 ACACACATATATGTGAGTTTT 0.343 Ovarian(63;442 1191 17318 29975 31528) NA 18 63 0 0 0.008871 0 0 ZNF804B 219578 broad.mit.edu 37 7 88966114 88966114 + Missense_Mutation SNP C C T TCGA-38-4628-01A-01D-1265-08 TCGA-38-4628-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 67bc44b7-92cf-4e8f-a7f6-c53bf34a17c6 850c7f34-0d4a-4e8e-a9a3-c4563d4dcb04 g.chr7:88966114C>T uc011khi.1 + 4 4356 c.3818C>T c.(3817-3819)GCT>GTT p.A1273V NM_181646 NP_857597 A4D1E1 Z804B_HUMAN zinc finger protein 804B 1273 intracellular zinc ion binding ovary(5)|skin(3)|pancreas(2)|upper_aerodigestive_tract(1) 11 all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151) STAD - Stomach adenocarcinoma(171;0.0513) TTAGTAGCTGCTACCCCCTTC 0.473 NA HNSCC(36;0.09) 83 229 0 0 0.01441 0 0 LAMB1 3912 broad.mit.edu 37 7 107615484 107615484 + Missense_Mutation SNP C C T TCGA-38-4628-01A-01D-1265-08 TCGA-38-4628-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 67bc44b7-92cf-4e8f-a7f6-c53bf34a17c6 850c7f34-0d4a-4e8e-a9a3-c4563d4dcb04 g.chr7:107615484C>T uc003vew.2 - 12 1764 c.1429G>A c.(1429-1431)GGT>AGT p.G477S LAMB1_uc003vev.2_Missense_Mutation_p.G501S|LAMB1_uc003vex.2_Missense_Mutation_p.G477S|LAMB1_uc010ljn.1_Missense_Mutation_p.G563S NM_002291 NP_002282 P07942 LAMB1_HUMAN laminin, beta 1 precursor 477 Laminin EGF-like 4. axon guidance|odontogenesis|positive regulation of cell migration|positive regulation of epithelial cell proliferation|substrate adhesion-dependent cell spreading extracellular space|laminin-1 complex|laminin-10 complex|laminin-2 complex|laminin-8 complex|perinuclear region of cytoplasm extracellular matrix structural constituent ovary(4)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1) 8 Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) TAGCAGTGACCTGTCTCGGAA 0.483 NA 28 32 0 0 0.008361 0 0 RNF148 378925 broad.mit.edu 37 7 122342609 122342609 + Missense_Mutation SNP A A T TCGA-38-4628-01A-01D-1265-08 TCGA-38-4628-11A-01D-1265-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 67bc44b7-92cf-4e8f-a7f6-c53bf34a17c6 850c7f34-0d4a-4e8e-a9a3-c4563d4dcb04 g.chr7:122342609A>T uc003vkk.1 - 1 413 c.196T>A c.(196-198)TCT>ACT p.S66T CADPS2_uc010lkp.2_Intron|CADPS2_uc010lkq.2_Intron|RNF148_uc010lkr.1_Intron NM_198085 NP_932351 Q8N7C7 RN148_HUMAN ring finger protein 148 precursor 66 PA. integral to membrane zinc ion binding 0 TCCAGAGGAGAATGATTCCCG 0.468 NA 16 108 0 0 0.004007 0 0 UBN2 254048 broad.mit.edu 37 7 138957090 138957090 + Missense_Mutation SNP T T C TCGA-38-4628-01A-01D-1265-08 TCGA-38-4628-11A-01D-1265-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 67bc44b7-92cf-4e8f-a7f6-c53bf34a17c6 850c7f34-0d4a-4e8e-a9a3-c4563d4dcb04 g.chr7:138957090T>C uc011kqr.1 + 9 1619 c.1619T>C c.(1618-1620)CTG>CCG p.L540P UBN2_uc003vuv.2_Missense_Mutation_p.L263P NM_173569 NP_775840 Q6ZU65 UBN2_HUMAN ubinuclein 2 540 ovary(1)|skin(1) 2 AGAGAACCTCTGCAAAAACTG 0.373 NA 32 158 0 0 0.012213 0 0 MLL3 58508 broad.mit.edu 37 7 151927085 151927085 + Missense_Mutation SNP C C A TCGA-38-4628-01A-01D-1265-08 TCGA-38-4628-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 67bc44b7-92cf-4e8f-a7f6-c53bf34a17c6 850c7f34-0d4a-4e8e-a9a3-c4563d4dcb04 g.chr7:151927085C>A uc003wla.2 - 18 3118 c.2899G>T c.(2899-2901)GGC>TGC p.G967C MLL3_uc003wkz.2_Missense_Mutation_p.G28C NM_170606 NP_733751 Q8NEZ4 MLL3_HUMAN myeloid/lymphoid or mixed-lineage leukemia 3 967 PHD-type 4. intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent DNA binding|protein binding|zinc ion binding large_intestine(27)|pancreas(13)|ovary(9)|central_nervous_system(8)|breast(3)|upper_aerodigestive_tract(1)|urinary_tract(1)|skin(1) 63 all_neural(206;0.187) all_hematologic(28;0.0592)|Prostate(32;0.0906) OV - Ovarian serous cystadenocarcinoma(82;0.00715) UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462) GCTCCTTGGCCAAAACTGCCA 0.343 Colon(68;14 1149 1884 27689 34759) NA N medulloblastoma 10 350 2.61681e-11 3.29586e-11 0.00245 1 0 CLVS1 157807 broad.mit.edu 37 8 62289222 62289222 + Missense_Mutation SNP G G T TCGA-38-4628-01A-01D-1265-08 TCGA-38-4628-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 67bc44b7-92cf-4e8f-a7f6-c53bf34a17c6 850c7f34-0d4a-4e8e-a9a3-c4563d4dcb04 g.chr8:62289222G>T uc003xuh.2 + 3 838 c.514G>T c.(514-516)GAT>TAT p.D172Y CLVS1_uc003xug.2_3'UTR|CLVS1_uc003xui.2_RNA|CLVS1_uc010lyp.2_Missense_Mutation_p.D172Y NM_173519 NP_775790 Q8IUQ0 CLVS1_HUMAN retinaldehyde binding protein 1-like 1 172 CRAL-TRIO. lysosome organization clathrin-coated vesicle|early endosome membrane|trans-Golgi network phosphatidylinositol-3,5-bisphosphate binding|transporter activity skin(4)|ovary(1) 5 CCTAATCGAAGATCCGGAGCT 0.443 NA 24 182 3.6726e-16 4.87232e-16 0.003954 1 0 C8orf45 157777 broad.mit.edu 37 8 67796088 67796088 + Missense_Mutation SNP C C T TCGA-38-4628-01A-01D-1265-08 TCGA-38-4628-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 67bc44b7-92cf-4e8f-a7f6-c53bf34a17c6 850c7f34-0d4a-4e8e-a9a3-c4563d4dcb04 g.chr8:67796088C>T uc003xwz.3 + 9 1103 c.932C>T c.(931-933)TCA>TTA p.S311L C8orf45_uc003xwv.2_Missense_Mutation_p.S311L|C8orf45_uc011lev.1_Missense_Mutation_p.S311L|C8orf45_uc011lew.1_Missense_Mutation_p.S242L|C8orf45_uc011lex.1_Missense_Mutation_p.S69L|C8orf45_uc003xwy.3_Missense_Mutation_p.S311L NM_173518 NP_775789 Q4G0Z9 CH045_HUMAN minichromosome maintenance complex 311 DNA replication ATP binding|DNA binding ovary(1) 1 Breast(64;0.186) Epithelial(68;0.00384)|OV - Ovarian serous cystadenocarcinoma(28;0.00913)|all cancers(69;0.0175)|BRCA - Breast invasive adenocarcinoma(89;0.206) ATCTTTGCATCACAAATTACC 0.433 NA 5 157 0 0 0.001168 0 0 RIMS2 9699 broad.mit.edu 37 8 105263321 105263321 + Missense_Mutation SNP G G T TCGA-38-4628-01A-01D-1265-08 TCGA-38-4628-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 67bc44b7-92cf-4e8f-a7f6-c53bf34a17c6 850c7f34-0d4a-4e8e-a9a3-c4563d4dcb04 g.chr8:105263321G>T uc003yls.2 + 27 4056 c.3815G>T c.(3814-3816)AGA>ATA p.R1272I RIMS2_uc003ylp.2_Missense_Mutation_p.R1254I|RIMS2_uc003ylw.2_Missense_Mutation_p.R1261I|RIMS2_uc003ylq.2_Missense_Mutation_p.R1068I|RIMS2_uc003ylr.2_Missense_Mutation_p.R1093I NM_014677 NP_055492 Q9UQ26 RIMS2_HUMAN regulating synaptic membrane exocytosis 2 1316 C2 2. intracellular protein transport cell junction|presynaptic membrane metal ion binding|Rab GTPase binding ovary(6)|lung(2)|breast(2)|skin(2)|large_intestine(1)|central_nervous_system(1)|pancreas(1) 15 OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229) AAAGTGGCAAGAAAAACGCTG 0.388 NA HNSCC(12;0.0054) 54 13 7.34454e-26 9.94262e-26 0.01441 1 0 PRUNE2 158471 broad.mit.edu 37 9 79324375 79324375 + Missense_Mutation SNP C C A TCGA-38-4628-01A-01D-1265-08 TCGA-38-4628-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 67bc44b7-92cf-4e8f-a7f6-c53bf34a17c6 850c7f34-0d4a-4e8e-a9a3-c4563d4dcb04 g.chr9:79324375C>A uc010mpk.2 - 8 2939 c.2815G>T c.(2815-2817)GAT>TAT p.D939Y NM_015225 NP_056040 Q8WUY3 PRUN2_HUMAN prune homolog 2 939 apoptosis|G1 phase|induction of apoptosis cytoplasm metal ion binding|pyrophosphatase activity 0 AAGAAGGAATCTTCCCAAGGA 0.423 NA 81 144 7.7321e-48 1.06116e-47 0.01441 1 0 DBC1 1620 broad.mit.edu 37 9 122000956 122000956 + Missense_Mutation SNP G G A rs1473785 TCGA-38-4628-01A-01D-1265-08 TCGA-38-4628-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 67bc44b7-92cf-4e8f-a7f6-c53bf34a17c6 850c7f34-0d4a-4e8e-a9a3-c4563d4dcb04 g.chr9:122000956G>A uc004bkc.2 - 5 1118 c.662C>T c.(661-663)ACG>ATG p.T221M DBC1_uc004bkd.2_Missense_Mutation_p.T221M NM_014618 NP_055433 O60477 DBC1_HUMAN deleted in bladder cancer 1 precursor 221 MACPF. cell cycle arrest|cell death cytoplasm protein binding skin(3)|ovary(2)|central_nervous_system(2)|large_intestine(1) 8 TTTGCTCTCCGTGCTTTGCAG 0.512 NA 18 42 0 0 0.008871 0 0 FCN1 2219 broad.mit.edu 37 9 137806617 137806617 + Missense_Mutation SNP G G T TCGA-38-4628-01A-01D-1265-08 TCGA-38-4628-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 67bc44b7-92cf-4e8f-a7f6-c53bf34a17c6 850c7f34-0d4a-4e8e-a9a3-c4563d4dcb04 g.chr9:137806617G>T uc004cfi.2 - 3 348 c.256C>A c.(256-258)CCA>ACA p.P86T NM_002003 NP_001994 O00602 FCN1_HUMAN ficolin 1 precursor 86 Collagen-like. opsonization|signal transduction collagen|extracellular space antigen binding|calcium ion binding|receptor binding|sugar binding large_intestine(1)|ovary(1) 2 Myeloproliferative disorder(178;0.0333) OV - Ovarian serous cystadenocarcinoma(145;3.46e-08)|Epithelial(140;6.01e-08)|all cancers(34;3.69e-07) GGCCCCACTGGTCCTGCCTTT 0.498 NA 3 16 0.000602214 0.000651308 0.000602 1 0 YY2 404281 broad.mit.edu 37 X 21861374 21861374 + Silent SNP T T A TCGA-38-4628-01A-01D-1265-08 TCGA-38-4628-11A-01D-1265-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 67bc44b7-92cf-4e8f-a7f6-c53bf34a17c6 850c7f34-0d4a-4e8e-a9a3-c4563d4dcb04 g.chrX:21861374T>A uc010nfq.2 + 2 359 c.162T>A c.(160-162)ACT>ACA p.T54T MBTPS2_uc004dae.2_Silent_p.T54T|MBTPS2_uc004dab.2_Silent_p.T54T NM_206923 NP_996806 O15391 TYY2_HUMAN YY2 transcription factor Error:Variant_position_missing_in_O15391_after_alignment regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus|plasma membrane DNA binding|zinc ion binding breast(1)|skin(1) 2 GATGGCAAACTGCTGTTTTCA 0.403 NA 39 215 0 0 0.005524 0 0 FAM48B1 100130302 broad.mit.edu 37 X 24381622 24381622 + Missense_Mutation SNP C C T TCGA-38-4628-01A-01D-1265-08 TCGA-38-4628-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 67bc44b7-92cf-4e8f-a7f6-c53bf34a17c6 850c7f34-0d4a-4e8e-a9a3-c4563d4dcb04 g.chrX:24381622C>T uc011mjx.1 + 1 745 c.745C>T c.(745-747)CCA>TCA p.P249S NM_001136234 NP_001129706 hypothetical protein LOC100130302 kidney(1) 1 CTCTGTAAAGCCACAGCAGGA 0.512 NA 22 156 0 0 0.00333 0 0 CYBB 1536 broad.mit.edu 37 X 37651312 37651312 + Missense_Mutation SNP G G C TCGA-38-4628-01A-01D-1265-08 TCGA-38-4628-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 67bc44b7-92cf-4e8f-a7f6-c53bf34a17c6 850c7f34-0d4a-4e8e-a9a3-c4563d4dcb04 g.chrX:37651312G>C uc004ddr.2 + 4 398 c.337G>C c.(337-339)GCG>CCG p.A113P CYBB_uc011mke.1_RNA|CYBB_uc011mkf.1_Missense_Mutation_p.A81P|CYBB_uc011mkg.1_5'UTR NM_000397 NP_000388 P04839 CY24B_HUMAN cytochrome b-245 beta polypeptide 113 Ferric oxidoreductase.|Helical; (Potential). electron transport chain|inflammatory response|innate immune response|respiratory burst|superoxide anion generation NADPH oxidase complex electron carrier activity|flavin adenine dinucleotide binding|heme binding|protein heterodimerization activity|superoxide-generating NADPH oxidase activity|voltage-gated ion channel activity central_nervous_system(1)|skin(1) 2 ACTTCACTCTGGTAAGTTTAT 0.388 NA 10 56 0 0 0.010729 0 0 ZNF630 57232 broad.mit.edu 37 X 47919181 47919181 + Missense_Mutation SNP G G T TCGA-38-4628-01A-01D-1265-08 TCGA-38-4628-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 67bc44b7-92cf-4e8f-a7f6-c53bf34a17c6 850c7f34-0d4a-4e8e-a9a3-c4563d4dcb04 g.chrX:47919181G>T uc004div.3 - 5 902 c.650C>A c.(649-651)GCT>GAT p.A217D ZNF630_uc010nhz.1_Intron|ZNF630_uc004diw.2_Missense_Mutation_p.A93D NM_001037735 NP_001032824 Q2M218 ZN630_HUMAN zinc finger protein 630 217 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1)|lung(1) 2 AGAACAGGAAGCATTATACTT 0.408 NA 8 104 0.000157383 0.000173035 0.00308 1 0 MTMR8 55613 broad.mit.edu 37 X 63488494 63488494 + Missense_Mutation SNP C C T TCGA-38-4628-01A-01D-1265-08 TCGA-38-4628-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 67bc44b7-92cf-4e8f-a7f6-c53bf34a17c6 850c7f34-0d4a-4e8e-a9a3-c4563d4dcb04 g.chrX:63488494C>T uc004dvs.2 - 14 2106 c.2038G>A c.(2038-2040)GGG>AGG p.G680R MTMR8_uc011mou.1_Intron NM_017677 NP_060147 Q96EF0 MTMR8_HUMAN myotubularin related protein 8 680 nuclear envelope protein tyrosine phosphatase activity ovary(2)|breast(2) 4 CCCATGTCCCCAGAGAAACCC 0.537 NA 15 38 0 0 0.004007 0 0 KIF4A 24137 broad.mit.edu 37 X 69563564 69563564 + Silent SNP G G A TCGA-38-4628-01A-01D-1265-08 TCGA-38-4628-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 67bc44b7-92cf-4e8f-a7f6-c53bf34a17c6 850c7f34-0d4a-4e8e-a9a3-c4563d4dcb04 g.chrX:69563564G>A uc004dyg.2 + 12 1405 c.1278G>A c.(1276-1278)GCG>GCA p.A426A KIF4A_uc010nkw.2_Silent_p.A426A|KIF4A_uc004dyf.1_Silent_p.A426A NM_012310 NP_036442 O95239 KIF4A_HUMAN kinesin family member 4 426 Potential. anterograde axon cargo transport|axon guidance|blood coagulation|organelle organization chromosome|cytosol|midbody|nuclear matrix|spindle microtubule ATP binding|DNA binding|microtubule motor activity|protein binding ovary(4) 4 CAGAGCAAGCGAATGAAAAAA 0.448 NA 8 59 0 0 0.00308 0 0 SNX12 29934 broad.mit.edu 37 X 70288110 70288110 + Missense_Mutation SNP G G A TCGA-38-4628-01A-01D-1265-08 TCGA-38-4628-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 67bc44b7-92cf-4e8f-a7f6-c53bf34a17c6 850c7f34-0d4a-4e8e-a9a3-c4563d4dcb04 g.chrX:70288110G>A uc004dyr.1 - 1 122 c.47C>T c.(46-48)CCG>CTG p.P16L SNX12_uc004dyp.1_RNA NM_013346 NP_037478 Q9UMY4 SNX12_HUMAN sorting nexin 12 16 cell communication|protein transport membrane phosphatidylinositol binding|protein binding 0 Renal(35;0.156) CAGGTCCTGCGGCTTCGAGTT 0.627 NA 3 19 0 0 0.000602 0 0 TBX22 50945 broad.mit.edu 37 X 79286464 79286464 + Missense_Mutation SNP G G A TCGA-38-4628-01A-01D-1265-08 TCGA-38-4628-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 67bc44b7-92cf-4e8f-a7f6-c53bf34a17c6 850c7f34-0d4a-4e8e-a9a3-c4563d4dcb04 g.chrX:79286464G>A uc010nmg.1 + 9 1551 c.1417G>A c.(1417-1419)GAC>AAC p.D473N TBX22_uc004edi.1_Missense_Mutation_p.D353N|TBX22_uc004edj.1_Missense_Mutation_p.D473N NM_001109878 NP_001103348 Q9Y458 TBX22_HUMAN T-box 22 isoform 1 473 multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter nucleus DNA binding|sequence-specific DNA binding transcription factor activity lung(7)|large_intestine(3)|central_nervous_system(2)|breast(1)|skin(1)|ovary(1) 15 TCCTTCCTATGACTTTTATAG 0.378 NA 12 101 0 0 0.013537 0 0 ZNF711 7552 broad.mit.edu 37 X 84526697 84526697 + Missense_Mutation SNP T T A TCGA-38-4628-01A-01D-1265-08 TCGA-38-4628-11A-01D-1265-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 67bc44b7-92cf-4e8f-a7f6-c53bf34a17c6 850c7f34-0d4a-4e8e-a9a3-c4563d4dcb04 g.chrX:84526697T>A uc004eeo.2 + 9 2496 c.2149T>A c.(2149-2151)TCT>ACT p.S717T ZNF711_uc004eep.2_Missense_Mutation_p.S717T|ZNF711_uc004eeq.2_Missense_Mutation_p.S763T|ZNF711_uc011mqy.1_Missense_Mutation_p.S316T NM_021998 NP_068838 Q9Y462 ZN711_HUMAN zinc finger protein 711 717 C2H2-type 11. positive regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding|sequence-specific DNA binding|zinc ion binding ovary(3)|skin(1) 4 TACAGATGCATCTGGCTTTAA 0.368 NA 18 130 0 0 0.008871 0 0 SYTL4 94121 broad.mit.edu 37 X 99942191 99942191 + Missense_Mutation SNP T T A TCGA-38-4628-01A-01D-1265-08 TCGA-38-4628-11A-01D-1265-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 67bc44b7-92cf-4e8f-a7f6-c53bf34a17c6 850c7f34-0d4a-4e8e-a9a3-c4563d4dcb04 g.chrX:99942191T>A uc004egd.3 - 13 1413 c.1057A>T c.(1057-1059)AAC>TAC p.N353Y SYTL4_uc010nnb.2_Missense_Mutation_p.N25Y|SYTL4_uc010nnc.2_Missense_Mutation_p.N353Y|SYTL4_uc004ege.3_Missense_Mutation_p.N353Y|SYTL4_uc004egf.3_Missense_Mutation_p.N353Y|SYTL4_uc004egg.3_3'UTR NM_080737 NP_542775 Q96C24 SYTL4_HUMAN synaptotagmin-like 4 353 exocytosis|intracellular protein transport extrinsic to membrane|plasma membrane|synaptic vesicle|transport vesicle membrane neurexin binding|phospholipid binding|Rab GTPase binding|transporter activity|zinc ion binding ovary(2) 2 Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071) ACAAAGATGTTCCCGAAATCA 0.527 NA 11 69 0 0 0.001855 0 0 IL1RAPL2 26280 broad.mit.edu 37 X 105011610 105011610 + Missense_Mutation SNP C C A TCGA-38-4628-01A-01D-1265-08 TCGA-38-4628-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 67bc44b7-92cf-4e8f-a7f6-c53bf34a17c6 850c7f34-0d4a-4e8e-a9a3-c4563d4dcb04 g.chrX:105011610C>A uc004elz.1 + 11 2773 c.2017C>A c.(2017-2019)CCT>ACT p.P673T NM_017416 NP_059112 Q9NP60 IRPL2_HUMAN interleukin 1 receptor accessory protein-like 2 673 Cytoplasmic (Potential). central nervous system development|innate immune response integral to membrane interleukin-1, Type II, blocking receptor activity breast(2)|ovary(1) 3 TTCTTTGCTGCCTTTATCCTC 0.403 NA 17 121 8.00594e-06 9.05217e-06 0.007413 1 0 MCF2 4168 broad.mit.edu 37 X 138708867 138708867 + Missense_Mutation SNP G G T TCGA-38-4628-01A-01D-1265-08 TCGA-38-4628-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 67bc44b7-92cf-4e8f-a7f6-c53bf34a17c6 850c7f34-0d4a-4e8e-a9a3-c4563d4dcb04 g.chrX:138708867G>T uc004fau.2 - 5 781 c.487C>A c.(487-489)CTG>ATG p.L163M MCF2_uc004fav.2_Missense_Mutation_p.L163M|MCF2_uc011mwl.1_Missense_Mutation_p.L124M|MCF2_uc010nsh.1_Missense_Mutation_p.L163M|MCF2_uc011mwm.1_Missense_Mutation_p.L124M|MCF2_uc011mwn.1_Missense_Mutation_p.L308M|MCF2_uc004faw.2_Missense_Mutation_p.L223M|MCF2_uc011mwo.1_Missense_Mutation_p.L223M NM_005369 NP_005360 P10911 MCF2_HUMAN MCF.2 cell line derived transforming sequence 163 apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytoskeleton|cytosol|membrane|membrane fraction protein binding|Rho guanyl-nucleotide exchange factor activity lung(1)|pleura(1) 2 Acute lymphoblastic leukemia(192;0.000127) GGCACTTCCAGATTTGTTAGC 0.383 NA 15 118 3.27435e-08 3.90177e-08 0.00245 1 0 GABRQ 55879 broad.mit.edu 37 X 151821213 151821213 + Silent SNP C C T TCGA-38-4628-01A-01D-1265-08 TCGA-38-4628-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 67bc44b7-92cf-4e8f-a7f6-c53bf34a17c6 850c7f34-0d4a-4e8e-a9a3-c4563d4dcb04 g.chrX:151821213C>T uc004ffp.1 + 9 1388 c.1368C>T c.(1366-1368)ACC>ACT p.T456T NM_018558 NP_061028 Q9UN88 GBRT_HUMAN gamma-aminobutyric acid (GABA) receptor, theta 456 cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|neurotransmitter transporter activity ovary(2)|pancreas(1) 3 Acute lymphoblastic leukemia(192;6.56e-05) TCCCCTCCACCTCAGAGCAGG 0.592 NA 5 127 0 0 0.000602 0 0 GDI1 2664 broad.mit.edu 37 X 153668809 153668809 + Missense_Mutation SNP A A T TCGA-38-4628-01A-01D-1265-08 TCGA-38-4628-11A-01D-1265-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 67bc44b7-92cf-4e8f-a7f6-c53bf34a17c6 850c7f34-0d4a-4e8e-a9a3-c4563d4dcb04 g.chrX:153668809A>T uc004fli.3 + 6 1017 c.675A>T c.(673-675)TTA>TTT p.L225F GDI1_uc011mzo.1_3'UTR|GDI1_uc004flj.2_5'Flank NM_001493 NP_001484 P31150 GDIA_HUMAN GDP dissociation inhibitor 1 225 protein transport|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|midbody GTPase activator activity|protein binding 0 all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176) GCCCATATTTATACCCGCTCT 0.567 NA 18 70 0 0 0.006122 0 0 OR2B11 127623 broad.mit.edu 37 1 247614375 247614375 + Frame_Shift_Del DEL C C - TCGA-38-4628-01A-01D-1265-08 TCGA-38-4628-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 67bc44b7-92cf-4e8f-a7f6-c53bf34a17c6 850c7f34-0d4a-4e8e-a9a3-c4563d4dcb04 g.chr1:247614375delC uc010pyx.1 - 1 910 c.910delG c.(910-912)GCTfs p.A304fs NM_001004492 NP_001004492 Q5JQS5 OR2BB_HUMAN olfactory receptor, family 2, subfamily B, 304 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity upper_aerodigestive_tract(1) 1 all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) all_cancers(173;0.241) OV - Ovarian serous cystadenocarcinoma(106;0.0188) CTCCTCAGAGCCCCCTTCATA 0.458 NA 9 763 --- --- --- --- NA NA NA NA NA NLRP14 338323 broad.mit.edu 37 11 7079029 7079029 + Frame_Shift_Del DEL C C - TCGA-38-4628-01A-01D-1265-08 TCGA-38-4628-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 67bc44b7-92cf-4e8f-a7f6-c53bf34a17c6 850c7f34-0d4a-4e8e-a9a3-c4563d4dcb04 g.chr11:7079029delC uc001mfb.1 + 7 2736 c.2413delC c.(2413-2415)CTTfs p.L805fs NM_176822 NP_789792 Q86W24 NAL14_HUMAN NLR family, pyrin domain containing 14 805 LRR 3. cell differentiation|multicellular organismal development|spermatogenesis ATP binding ovary(3)|breast(2)|pancreas(1)|lung(1)|skin(1) 8 Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871) TGGAGTGCAGCTTTTGTGTGA 0.383 NA 24 210 --- --- --- --- NA NA NA NA NA GCN1L1 10985 broad.mit.edu 37 12 120580382 120580383 + Frame_Shift_Ins INS - - C TCGA-38-4628-01A-01D-1265-08 TCGA-38-4628-11A-01D-1265-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 67bc44b7-92cf-4e8f-a7f6-c53bf34a17c6 850c7f34-0d4a-4e8e-a9a3-c4563d4dcb04 g.chr12:120580382_120580383insC uc001txo.2 - 44 5770_5771 c.5757_5758insG c.(5755-5760)TTGCGTfs p.L1919fs NM_006836 NP_006827 Q92616 GCN1L_HUMAN GCN1 general control of amino-acid synthesis 1919_1920 regulation of translation ribosome protein binding|translation factor activity, nucleic acid binding ovary(4) 4 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) AGGATCTCACGCAAGGTGCGGG 0.589 NA 22 77 --- --- --- --- NA NA NA NA NA HNRNPC 3183 broad.mit.edu 37 14 21681149 21681161 + Frame_Shift_Del DEL CACTCTTAGAATT CACTCTTAGAATT - TCGA-38-4628-01A-01D-1265-08 TCGA-38-4628-11A-01D-1265-08 CACTCTTAGAATT CACTCTTAGAATT - - CACTCTTAGAATT CACTCTTAGAATT Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 67bc44b7-92cf-4e8f-a7f6-c53bf34a17c6 850c7f34-0d4a-4e8e-a9a3-c4563d4dcb04 g.chr14:21681149_21681161delCACTCTTAGAATT uc001vzy.2 - 6 764_776 c.520_532delAATTCTAAGAGTG c.(520-534)AATTCTAAGAGTGGAfs p.N174fs HNRNPC_uc001vzw.2_Frame_Shift_Del_p.N161fs|HNRNPC_uc001wad.2_Frame_Shift_Del_p.N94fs|HNRNPC_uc001vzx.2_Intron|HNRNPC_uc001vzz.2_Frame_Shift_Del_p.N161fs|HNRNPC_uc001waa.2_Frame_Shift_Del_p.N174fs|HNRNPC_uc010ail.2_Frame_Shift_Del_p.N174fs|HNRNPC_uc010tlq.1_RNA|HNRNPC_uc001wab.2_Frame_Shift_Del_p.N161fs|HNRNPC_uc001wac.2_Intron|HNRNPC_uc010tlr.1_Frame_Shift_Del_p.N39fs|HNRNPC_uc001waf.2_Frame_Shift_Del_p.N161fs|HNRNPC_uc001wae.2_Frame_Shift_Del_p.N161fs NM_031314 NP_112604 P07910 HNRPC_HUMAN heterogeneous nuclear ribonucleoprotein C 174_178 catalytic step 2 spliceosome|nucleoplasm identical protein binding|nucleotide binding|RNA binding 0 all_cancers(95;0.00176) Epithelial(56;1.08e-06)|all cancers(55;8.95e-06) GBM - Glioblastoma multiforme(265;0.00783) CCCCGCTGTCCACTCTTAGAATTGAAGCCACTT 0.455 NSCLC(108;607 2244 12726 38757) NA 10 176 --- --- --- --- NA NA NA NA NA NPHS1 4868 broad.mit.edu 37 19 36333449 36333451 + In_Frame_Del DEL CTC CTC - TCGA-38-4628-01A-01D-1265-08 TCGA-38-4628-11A-01D-1265-08 CTC CTC - - CTC CTC Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 67bc44b7-92cf-4e8f-a7f6-c53bf34a17c6 850c7f34-0d4a-4e8e-a9a3-c4563d4dcb04 g.chr19:36333449_36333451delCTC uc002oby.2 - 18 2336_2338 c.2336_2338delGAG c.(2335-2340)GGAGAA>GAA p.G779del NM_004646 NP_004637 O60500 NPHN_HUMAN nephrin precursor 779 Ig-like C2-type 7.|Extracellular (Potential). cell adhesion|excretion|muscle organ development integral to plasma membrane p.G779*(1) ovary(4)|skin(1) 5 all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0515) TCCTCATCTTCTCCCTGGAGGCC 0.581 NA 20 133 --- --- --- --- NA NA NA NA NA HIST1H4B 8366 broad.mit.edu 37 6 26027259 26027267 + In_Frame_Del DEL CGTGTAGGT CGTGTAGGT - rs139832518 byFrequency TCGA-38-4628-01A-01D-1265-08 TCGA-38-4628-11A-01D-1265-08 CGTGTAGGT CGTGTAGGT - - CGTGTAGGT CGTGTAGGT Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 67bc44b7-92cf-4e8f-a7f6-c53bf34a17c6 850c7f34-0d4a-4e8e-a9a3-c4563d4dcb04 g.chr6:26027259_26027267delCGTGTAGGT uc003nfr.2 - 1 214_222 c.214_222delACCTACACG c.(214-222)ACCTACACGdel p.TYT72del NM_003544 NP_003535 P62805 H4_HUMAN histone cluster 1, H4b 72_74 CenH3-containing nucleosome assembly at centromere|negative regulation of megakaryocyte differentiation|phosphatidylinositol-mediated signaling|telomere maintenance nucleoplasm|nucleosome DNA binding|protein binding ovary(2) 2 TGGCGTGCTCCGTGTAGGTCACGGCGTCC 0.55 NA OREG0017238 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 20 120 --- --- --- --- NA NA NA NA NA EGFR 1956 broad.mit.edu 37 7 55242465 55242479 + In_Frame_Del DEL GGAATTAAGAGAAGC GGAATTAAGAGAAGC - rs121913421 TCGA-38-4628-01A-01D-1265-08 TCGA-38-4628-11A-01D-1265-08 GGAATTAAGAGAAGC GGAATTAAGAGAAGC - - GGAATTAAGAGAAGC GGAATTAAGAGAAGC Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 67bc44b7-92cf-4e8f-a7f6-c53bf34a17c6 850c7f34-0d4a-4e8e-a9a3-c4563d4dcb04 g.chr7:55242465_55242479delGGAATTAAGAGAAGC uc003tqk.2 + 19 2481_2495 c.2235_2249delGGAATTAAGAGAAGC c.(2233-2250)AAGGAATTAAGAGAAGCA>AAA p.ELREA746del EGFR_uc010kzg.1_In_Frame_Del_p.ELREA701del|EGFR_uc011kco.1_In_Frame_Del_p.ELREA693del NM_005228 NP_005219 P00533 EGFR_HUMAN epidermal growth factor receptor isoform a 746_750 Cytoplasmic (Potential).|Protein kinase. Missing (found in a lung cancer sample). activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity p.E746_A750del(1613)|p.L747_P753>S(110)|p.L747_A750>P(74)|p.E746_S752>V(67)|p.L747_T751del(62)|p.E746_T751>A(30)|p.L747_S752del(28)|p.L747_T751>P(20)|p.E746_T751del(18)|p.L747_E749del(18)|p.K745_E749del(14)|p.E746_E749del(12)|p.E746_S752del(10)|p.L747_T751>S(7)|p.L747_P753>Q(7)|p.E746_P753>VS(6)|p.E746_A750>IP(5)|p.L747_T751>Q(5)|p.E746_T751>I(5)|p.E746_T751>V(5)|p.E746_S752>A(5)|p.E746_T751>IP(5)|p.E746_A750>QP(4)|p.E746V(4)|p.E746_S752>D(4)|p.K745_A750del(4)|p.L747S(3)|p.L747_S752>Q(3)|p.A750P(3)|p.E746_T751>VA(3)|p.E746_T751>VP(3)|p.E746_A750>RP(2)|p.E746_A750>S(2)|p.E746_S752>T(2)|p.A750_E758>P(2)|p.E746_T751>Q(2)|p.E746_T751>S(2)|p.E746_A750>DP(2)|p.E746_T751>L(2)|p.E746K(2)|p.E746_P753del(2)|p.E746_S752>I(2)|p.K745_E746insVPVAIK(2)|p.E746_A750>AP(2)|p.L747_K754>ST(1)|p.E746_A750>A(1)|p.E746_T751>P(1)|p.E746del(1)|p.A750_K754del(1)|p.L747_S752>QH(1)|p.L747P(1)|p.E746_A750>VP(1)|p.L747_K754>N(1)|p.L747_R748>FP(1)|p.K745_L747del(1)|p.L747_T751>A(1)|p.E746_P753>LS(1)|p.E746_P753>VQ(1)|p.E746_T751>LS(1)|p.A750_E758del(1)|p.E746_R748del(1)|p.I744_A750>VK(1)|p.E746I(1)|p.L747_K754del(1)|p.R748I(1)|p.E746_A750>KP(1)|p.E746_A750>EP(1) lung(9213)|central_nervous_system(103)|stomach(41)|upper_aerodigestive_tract(39)|prostate(32)|ovary(31)|thyroid(24)|breast(11)|peritoneum(9)|oesophagus(9)|salivary_gland(9)|large_intestine(8)|kidney(8)|urinary_tract(6)|skin(5)|adrenal_gland(5)|soft_tissue(4)|bone(3)|NS(2)|pancreas(2)|haematopoietic_and_lymphoid_tissue(2)|thymus(2)|liver(2)|eye(1) 9571 all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318) GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607) Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072) TCGCTATCAAGGAATTAAGAGAAGCAACATCTCCG 0.479 E746_A750del(NCIH1650_LUNG)|E746K(HCC827_LUNG)|E746_A750del(PC14_LUNG)|L747_P753>Q(HCC4006_LUNG) 8 A|O|Mis glioma|NSCLC NSCLC Lung_Cancer_Familial_Clustering_of TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08) 31 85 --- --- --- --- NA NA NA NA NA JHDM1D 80853 broad.mit.edu 37 7 139838949 139838949 + Frame_Shift_Del DEL A A - TCGA-38-4628-01A-01D-1265-08 TCGA-38-4628-11A-01D-1265-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 67bc44b7-92cf-4e8f-a7f6-c53bf34a17c6 850c7f34-0d4a-4e8e-a9a3-c4563d4dcb04 g.chr7:139838949delA uc003vvm.2 - 2 240 c.236delT c.(235-237)CTGfs p.L79fs NM_030647 NP_085150 Q6ZMT4 KDM7_HUMAN jumonji C domain containing histone demethylase 79 PHD-type. midbrain development|transcription, DNA-dependent nucleolus histone demethylase activity (H3-K27 specific)|histone demethylase activity (H3-K36 specific)|histone demethylase activity (H3-K9 specific)|histone demethylase activity (H4-K20 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding ovary(1) 1 Melanoma(164;0.0142) ACAGTGATACAGGTCAATGTC 0.353 NA 7 209 --- --- --- --- NA NA NA NA NA ACO1 48 broad.mit.edu 37 9 32424665 32424666 + Splice_Site INS - - AG TCGA-38-4628-01A-01D-1265-08 TCGA-38-4628-11A-01D-1265-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 67bc44b7-92cf-4e8f-a7f6-c53bf34a17c6 850c7f34-0d4a-4e8e-a9a3-c4563d4dcb04 g.chr9:32424665_32424666insAG uc003zqw.3 + 10 1343 c.1188_splice c.e10+2 p.K396_splice ACO1_uc010mjh.1_Splice_Site_p.K230_splice|ACO1_uc003zqx.3_Splice_Site_p.K396_splice|ACO1_uc003zqy.3_Splice_Site NM_002197 NP_002188 P21399 ACOC_HUMAN aconitase 1 citrate metabolic process|response to iron(II) ion|tricarboxylic acid cycle cytosol|endoplasmic reticulum|Golgi apparatus 4 iron, 4 sulfur cluster binding|aconitate hydratase activity|citrate hydro-lyase (cis-aconitate-forming) activity|iron-responsive element binding|isocitrate hydro-lyase (cis-aconitate-forming) activity|metal ion binding|protein binding 0 LUSC - Lung squamous cell carcinoma(29;0.00813) GBM - Glioblastoma multiforme(74;3.94e-06) GGAGCCAAGGTAGGGGCCTGCG 0.515 NA 26 107 --- --- --- --- NA NA NA NA NA AGPAT2 10555 broad.mit.edu 37 9 139571073 139571073 + Frame_Shift_Del DEL A A - TCGA-38-4628-01A-01D-1265-08 TCGA-38-4628-11A-01D-1265-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 67bc44b7-92cf-4e8f-a7f6-c53bf34a17c6 850c7f34-0d4a-4e8e-a9a3-c4563d4dcb04 g.chr9:139571073delA uc004cii.1 - 4 654 c.552delT c.(550-552)TTTfs p.F184fs AGPAT2_uc004cij.1_Intron NM_006412 NP_006403 O15120 PLCB_HUMAN 1-acylglycerol-3-phosphate O-acyltransferase 2 184 phosphatidic acid biosynthetic process|positive regulation of cytokine production|triglyceride biosynthetic process endoplasmic reticulum membrane|integral to membrane 1-acylglycerol-3-phosphate O-acyltransferase activity 0 all_cancers(76;0.0893)|all_epithelial(76;0.231) Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;9.87e-06)|Epithelial(140;0.000123) CGCCCTTCTTAAAAGGCAGCA 0.632 NA 26 102 --- --- --- --- NA NA NA NA NA