Hugo_Symbol Entrez_Gene_Id Center NCBI_Build Chromosome Start_position End_position Strand Variant_Classification Variant_Type Reference_Allele Tumor_Seq_Allele1 Tumor_Seq_Allele2 dbSNP_RS dbSNP_Val_Status Tumor_Sample_Barcode Matched_Norm_Sample_Barcode Match_Norm_Seq_Allele1 Match_Norm_Seq_Allele2 Tumor_Validation_Allele1 Tumor_Validation_Allele2 Match_Norm_Validation_Allele1 Match_Norm_Validation_Allele2 Verification_Status Validation_Status Mutation_Status Sequencing_Phase Sequence_Source Validation_Method Score BAM_file Sequencer Tumor_Sample_UUID Matched_Norm_Sample_UUID Genome_Change Annotation_Transcript Transcript_Strand Transcript_Exon Transcript_Position cDNA_Change Codon_Change Protein_Change Other_Transcripts Refseq_mRNA_Id Refseq_prot_Id SwissProt_acc_Id SwissProt_entry_Id Description UniProt_AApos UniProt_Region UniProt_Site UniProt_Natural_Variations UniProt_Experimental_Info GO_Biological_Process GO_Cellular_Component GO_Molecular_Function COSMIC_overlapping_mutations COSMIC_fusion_genes COSMIC_tissue_types_affected COSMIC_total_alterations_in_gene Tumorscape_Amplification_Peaks Tumorscape_Deletion_Peaks TCGAscape_Amplification_Peaks TCGAscape_Deletion_Peaks DrugBank ref_context gc_content CCLE_ONCOMAP_overlapping_mutations CCLE_ONCOMAP_total_mutations_in_gene CGC_Mutation_Type CGC_Translocation_Partner CGC_Tumor_Types_Somatic CGC_Tumor_Types_Germline CGC_Other_Diseases DNARepairGenes_Role FamilialCancerDatabase_Syndromes MUTSIG_Published_Results OREGANNO_ID OREGANNO_Values t_alt_count t_ref_count validation_status validation_method validation_tumor_sample validation_alt_allele pox qox isArtifactMode oxoGCut MTHFR 4524 broad.mit.edu 37 1 11854027 11854027 + Silent SNP G G A TCGA-CV-7263-01A-11D-2012-08 TCGA-CV-7263-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 19a07472-c8b9-4a34-b2cb-11ace35e7903 d34d6638-773d-4695-a34a-63d7f9685243 g.chr1:11854027G>A uc001atc.1 - 9 1651 c.1467C>T c.(1465-1467)AAC>AAT p.N489N MTHFR_uc001atb.1_Silent_p.N512N NM_005957 NP_005948 P42898 MTHR_HUMAN 5,10-methylenetetrahydrofolate reductase 489 blood circulation|folic acid metabolic process cytosol methylenetetrahydrofolate reductase (NADPH) activity|protein binding 0 Ovarian(185;0.249) Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00826)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.66e-06)|COAD - Colon adenocarcinoma(227;0.000261)|BRCA - Breast invasive adenocarcinoma(304;0.000304)|Kidney(185;0.000777)|KIRC - Kidney renal clear cell carcinoma(229;0.00261)|STAD - Stomach adenocarcinoma(313;0.0073)|READ - Rectum adenocarcinoma(331;0.0649) Benazepril(DB00542)|Cyanocobalamin(DB00115)|Folic Acid(DB00158)|L-Methionine(DB00134)|Menadione(DB00170)|Methotrexate(DB00563)|Pyridoxal Phosphate(DB00114)|Pyridoxine(DB00165)|Raltitrexed(DB00293)|Riboflavin(DB00140)|S-Adenosylmethionine(DB00118)|Tetrahydrofolic acid(DB00116) ACGGCTTCCCGTTGATGTTGG 0.657 NA 35 73 0 0 0 0 C1orf113 79729 broad.mit.edu 37 1 36785374 36785374 + Silent SNP C C T TCGA-CV-7263-01A-11D-2012-08 TCGA-CV-7263-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 19a07472-c8b9-4a34-b2cb-11ace35e7903 d34d6638-773d-4695-a34a-63d7f9685243 g.chr1:36785374C>T uc010oia.1 + 14 1138 c.1110C>T c.(1108-1110)AAC>AAT p.N370N C1orf113_uc010oib.1_Silent_p.N259N|C1orf113_uc010oic.1_RNA|C1orf113_uc009vuz.1_Silent_p.N16N NM_001162530 NP_001156002 A4FU49 SH321_HUMAN SH3 domain-containing protein C1orf113 isoform 254 0 Myeloproliferative disorder(586;0.0393) CTCCAGAGAACGCCCCCAGCT 0.622 NA 12 23 0 0 0 0 GPBP1L1 60313 broad.mit.edu 37 1 46096158 46096159 + Missense_Mutation DNP GC GC AA TCGA-CV-7263-01A-11D-2012-08 TCGA-CV-7263-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 19a07472-c8b9-4a34-b2cb-11ace35e7903 d34d6638-773d-4695-a34a-63d7f9685243 g.chr1:46096158_46096159GC>AA uc001coq.2 - 11 2525_2526 c.1164_1165GC>TT c.(1162-1167)GAGCAC>GATTAC p.388_389EH>DY GPBP1L1_uc001coo.2_Missense_Mutation_p.132_133EH>DY NM_021639 NP_067652 Q9HC44 GPBL1_HUMAN GC-rich promoter binding protein 1-like 1 388_389 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding ovary(1) 1 Acute lymphoblastic leukemia(166;0.155) ACTTACCTGTGCTCTGCTTCTA 0.49 NA 18 69 0 0 0 0 LRRC41 10489 broad.mit.edu 37 1 46751227 46751227 + Silent SNP T T C TCGA-CV-7263-01A-11D-2012-08 TCGA-CV-7263-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 19a07472-c8b9-4a34-b2cb-11ace35e7903 d34d6638-773d-4695-a34a-63d7f9685243 g.chr1:46751227T>C uc001cpn.2 - 4 1346 c.1302A>G c.(1300-1302)GAA>GAG p.E434E LRRC41_uc010omb.1_Silent_p.E434E|LRRC41_uc001cpo.1_Silent_p.E434E NM_006369 NP_006360 Q15345 LRC41_HUMAN MUF1 protein 434 ovary(2)|breast(1)|pancreas(1) 4 Acute lymphoblastic leukemia(166;0.155) CACAAGCCACTTCCCCAATCT 0.547 NA 34 57 0 0 0 0 CYP4B1 1580 broad.mit.edu 37 1 47279983 47279983 + Missense_Mutation SNP C C T TCGA-CV-7263-01A-11D-2012-08 TCGA-CV-7263-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 19a07472-c8b9-4a34-b2cb-11ace35e7903 d34d6638-773d-4695-a34a-63d7f9685243 g.chr1:47279983C>T uc001cqm.3 + 7 959 c.875C>T c.(874-876)GCC>GTC p.A292V CYP4B1_uc009vyl.1_Missense_Mutation_p.A129V|CYP4B1_uc001cqn.3_Missense_Mutation_p.A293V|CYP4B1_uc009vym.2_Missense_Mutation_p.A278V|CYP4B1_uc010omk.1_Missense_Mutation_p.A129V|CYP4B1_uc010oml.1_Missense_Mutation_p.A130V NM_000779 NP_000770 P13584 CP4B1_HUMAN cytochrome P450, family 4, subfamily B, 292 xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|electron carrier activity|heme binding|oxygen binding ovary(1)|skin(1) 2 Acute lymphoblastic leukemia(166;0.155) CTCCTGGGTGCCCGGGTGAGT 0.582 NA 12 16 0 0 0 0 ZCCHC11 23318 broad.mit.edu 37 1 52940829 52940829 + Missense_Mutation SNP G G C TCGA-CV-7263-01A-11D-2012-08 TCGA-CV-7263-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 19a07472-c8b9-4a34-b2cb-11ace35e7903 d34d6638-773d-4695-a34a-63d7f9685243 g.chr1:52940829G>C uc001ctx.2 - 13 2636 c.2402C>G c.(2401-2403)TCT>TGT p.S801C ZCCHC11_uc001cty.2_Missense_Mutation_p.S801C|ZCCHC11_uc001ctz.2_Missense_Mutation_p.S801C|ZCCHC11_uc009vze.1_Missense_Mutation_p.S801C|ZCCHC11_uc009vzf.1_Missense_Mutation_p.S560C|ZCCHC11_uc001cub.2_Missense_Mutation_p.S801C NM_015269 NP_056084 Q5TAX3 TUT4_HUMAN zinc finger, CCHC domain containing 11 isoform 801 miRNA catabolic process|pre-miRNA processing|RNA 3'-end processing|stem cell maintenance cytoplasm|nucleolus nucleic acid binding|protein binding|protein binding|RNA uridylyltransferase activity|zinc ion binding ovary(2)|skin(1) 3 TTTGCTGGTAGAAAGAGATGA 0.358 NA 23 133 0 0 0 0 AK5 26289 broad.mit.edu 37 1 77806144 77806144 + Missense_Mutation SNP A A G TCGA-CV-7263-01A-11D-2012-08 TCGA-CV-7263-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 19a07472-c8b9-4a34-b2cb-11ace35e7903 d34d6638-773d-4695-a34a-63d7f9685243 g.chr1:77806144A>G uc001dhn.2 + 6 1039 c.782A>G c.(781-783)CAG>CGG p.Q261R AK5_uc001dho.2_Missense_Mutation_p.Q235R NM_174858 NP_777283 Q9Y6K8 KAD5_HUMAN adenylate kinase 5 isoform 1 261 ADP biosynthetic process|ATP metabolic process|dADP biosynthetic process|nucleobase, nucleoside and nucleotide interconversion|pyrimidine ribonucleotide biosynthetic process|signal transduction centrosome|cytosol adenylate kinase activity|ATP binding|cAMP-dependent protein kinase regulator activity|nucleoside kinase activity skin(1) 1 GCAGAACAGCAGGGCCGACCA 0.468 NA 24 91 0 0 0 0 PTBP2 58155 broad.mit.edu 37 1 97236288 97236288 + Missense_Mutation SNP G G A TCGA-CV-7263-01A-11D-2012-08 TCGA-CV-7263-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 19a07472-c8b9-4a34-b2cb-11ace35e7903 d34d6638-773d-4695-a34a-63d7f9685243 g.chr1:97236288G>A uc001drq.2 + 5 559 c.313G>A c.(313-315)GAA>AAA p.E105K PTBP2_uc001drn.2_Missense_Mutation_p.E105K|PTBP2_uc001dro.2_Missense_Mutation_p.E105K|PTBP2_uc010otz.1_Missense_Mutation_p.E116K|PTBP2_uc001drp.2_RNA|PTBP2_uc009wdw.2_Missense_Mutation_p.E53K|PTBP2_uc001drr.2_Missense_Mutation_p.E105K|PTBP2_uc010oua.1_Missense_Mutation_p.E113K|PTBP2_uc001dru.2_RNA|PTBP2_uc001drm.2_Missense_Mutation_p.E105K NM_021190 NP_067013 Q9UKA9 PTBP2_HUMAN polypyrimidine tract binding protein 2 105 RRM 1. nucleotide binding 0 all_epithelial(167;2.95e-05)|all_lung(203;0.000396)|Lung NSC(277;0.00171) all cancers(265;0.0582)|Epithelial(280;0.0716)|Colorectal(170;0.0879)|KIRC - Kidney renal clear cell carcinoma(1967;0.202) AGCAACCGAGGAAGCAGCTAT 0.303 NA 21 55 0 0 0 0 PHTF1 10745 broad.mit.edu 37 1 114267424 114267424 + Missense_Mutation SNP C C T TCGA-CV-7263-01A-11D-2012-08 TCGA-CV-7263-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 19a07472-c8b9-4a34-b2cb-11ace35e7903 d34d6638-773d-4695-a34a-63d7f9685243 g.chr1:114267424C>T uc009wgp.1 - 6 1032 c.580G>A c.(580-582)GTA>ATA p.V194I PHTF1_uc001edn.2_Missense_Mutation_p.V194I|PHTF1_uc010own.1_Missense_Mutation_p.V194I NM_006608 NP_006599 Q9UMS5 PHTF1_HUMAN putative homeodomain transcription factor 1 194 nucleus DNA binding|sequence-specific DNA binding transcription factor activity ovary(1) 1 Lung SC(450;0.184) all_cancers(81;3.78e-08)|all_epithelial(167;5.56e-08)|all_lung(203;6.97e-06)|Lung NSC(69;1.18e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133) ATAATGGGTACAGATTCCAAA 0.353 NA 25 42 0 0 0 0 WARS2 10352 broad.mit.edu 37 1 119683180 119683180 + Nonsense_Mutation SNP G G A TCGA-CV-7263-01A-11D-2012-08 TCGA-CV-7263-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 19a07472-c8b9-4a34-b2cb-11ace35e7903 d34d6638-773d-4695-a34a-63d7f9685243 g.chr1:119683180G>A uc001ehn.2 - 1 116 c.88C>T c.(88-90)CAG>TAG p.Q30* WARS2_uc010oxf.1_5'Flank|WARS2_uc001ehm.2_Nonsense_Mutation_p.Q30*|WARS2_uc010oxg.1_Nonsense_Mutation_p.Q30*|WARS2_uc010oxh.1_Nonsense_Mutation_p.Q30*|WARS2_uc010oxi.1_5'Flank|uc001ehp.1_RNA|uc001eho.1_RNA|uc009whk.1_RNA NM_015836 NP_056651 Q9UGM6 SYWM_HUMAN mitochondrial tryptophanyl tRNA synthetase 2 30 tryptophanyl-tRNA aminoacylation mitochondrial matrix ATP binding|tryptophan-tRNA ligase activity 0 all_neural(166;0.187) all_lung(203;2.48e-06)|Lung NSC(69;1.74e-05)|all_epithelial(167;0.000564) Lung(183;0.0629) L-Tryptophan(DB00150) TTGGTTACCTGGAGAGCGGGA 0.597 NA 6 31 0 0 0 0 OR6K2 81448 broad.mit.edu 37 1 158669807 158669807 + Silent SNP C C T TCGA-CV-7263-01A-11D-2012-08 TCGA-CV-7263-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 19a07472-c8b9-4a34-b2cb-11ace35e7903 d34d6638-773d-4695-a34a-63d7f9685243 g.chr1:158669807C>T uc001fsu.1 - 1 636 c.636G>A c.(634-636)GTG>GTA p.V212V NM_001005279 NP_001005279 Q8NGY2 OR6K2_HUMAN olfactory receptor, family 6, subfamily K, 212 Helical; Name=5; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity pancreas(1) 1 all_hematologic(112;0.0378) AGATGAGCATCACAGCTGTAA 0.498 NA 24 99 0 0 0 0 LAMC1 3915 broad.mit.edu 37 1 183106849 183106849 + Missense_Mutation SNP G G A TCGA-CV-7263-01A-11D-2012-08 TCGA-CV-7263-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 19a07472-c8b9-4a34-b2cb-11ace35e7903 d34d6638-773d-4695-a34a-63d7f9685243 g.chr1:183106849G>A uc001gpy.3 + 26 4617 c.4360G>A c.(4360-4362)GTT>ATT p.V1454I NM_002293 NP_002284 P11047 LAMC1_HUMAN laminin, gamma 1 precursor 1454 Potential.|Domain II and I. axon guidance|cell migration|endoderm development|extracellular matrix disassembly|hemidesmosome assembly|positive regulation of epithelial cell proliferation|protein complex assembly|substrate adhesion-dependent cell spreading extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex extracellular matrix structural constituent ovary(3)|large_intestine(1)|kidney(1) 5 Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) TTTTGCAGAAGTTACAGATCT 0.383 NA 8 39 0 0 0 0 PTPRC 5788 broad.mit.edu 37 1 198665840 198665840 + Splice_Site SNP G G A TCGA-CV-7263-01A-11D-2012-08 TCGA-CV-7263-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 19a07472-c8b9-4a34-b2cb-11ace35e7903 d34d6638-773d-4695-a34a-63d7f9685243 g.chr1:198665840G>A uc001gur.1 + 4 275 c.95_splice c.e4-1 p.G32_splice PTPRC_uc001gus.1_Splice_Site_p.G32_splice|PTPRC_uc001gut.1_Intron|PTPRC_uc009wze.1_Intron|PTPRC_uc009wzf.1_Intron|PTPRC_uc010ppg.1_Intron|PTPRC_uc001guu.1_Splice_Site_p.R75_splice|PTPRC_uc001guv.1_Intron|PTPRC_uc001guw.1_Intron NM_002838 NP_002829 P08575 PTPRC_HUMAN protein tyrosine phosphatase, receptor type, C axon guidance|B cell proliferation|B cell receptor signaling pathway|defense response to virus|immunoglobulin biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of T cell mediated cytotoxicity|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of B cell proliferation|positive regulation of protein kinase activity|positive regulation of T cell proliferation|regulation of S phase|release of sequestered calcium ion into cytosol|T cell differentiation|T cell receptor signaling pathway focal adhesion|integral to plasma membrane|membrane raft protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity breast(4)|skin(3)|ovary(2)|lung(1)|kidney(1)|pancreas(1) 12 TTAATTAACAGGATTGACTAC 0.418 NA 32 83 0 0 0 0 MBL2 4153 broad.mit.edu 37 10 54528241 54528241 + Missense_Mutation SNP C C T TCGA-CV-7263-01A-11D-2012-08 TCGA-CV-7263-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 19a07472-c8b9-4a34-b2cb-11ace35e7903 d34d6638-773d-4695-a34a-63d7f9685243 g.chr10:54528241C>T uc001jjt.2 - 4 468 c.403G>A c.(403-405)GGG>AGG p.G135R NM_000242 NP_000233 P11226 MBL2_HUMAN soluble mannose-binding lectin precursor 135 C-type lectin. acute-phase response|complement activation, classical pathway|complement activation, lectin pathway|defense response to Gram-positive bacterium|negative regulation of growth of symbiont in host|opsonization|response to oxidative stress collagen|extracellular space bacterial cell surface binding|calcium-dependent protein binding|eukaryotic cell surface binding|mannose binding|receptor binding ovary(1) 1 AACTTGTTCCCAACTTGTTTG 0.453 NA 18 103 0 0 0 0 MYST4 23522 broad.mit.edu 37 10 76788252 76788252 + Missense_Mutation SNP A A G TCGA-CV-7263-01A-11D-2012-08 TCGA-CV-7263-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 19a07472-c8b9-4a34-b2cb-11ace35e7903 d34d6638-773d-4695-a34a-63d7f9685243 g.chr10:76788252A>G uc001jwn.1 + 18 4163 c.3670A>G c.(3670-3672)ATG>GTG p.M1224V MYST4_uc001jwo.1_Missense_Mutation_p.M932V|MYST4_uc001jwp.1_Missense_Mutation_p.M1041V NM_012330 NP_036462 Q8WYB5 MYST4_HUMAN MYST histone acetyltransferase (monocytic 1224 histone H3 acetylation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent MOZ/MORF histone acetyltransferase complex|nucleosome DNA binding|histone acetyltransferase activity|transcription factor binding|zinc ion binding central_nervous_system(5)|ovary(4)|lung(3)|breast(2)|skin(1)|prostate(1) 16 all_cancers(46;0.0347)|all_epithelial(25;0.00236)|Prostate(51;0.0112)|Ovarian(15;0.0964) CTAAGACAATATGAATGATGA 0.373 NA T CREBBP AML 16 116 0 0 0 0 DUPD1 338599 broad.mit.edu 37 10 76797686 76797686 + Missense_Mutation SNP T T G TCGA-CV-7263-01A-11D-2012-08 TCGA-CV-7263-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 19a07472-c8b9-4a34-b2cb-11ace35e7903 d34d6638-773d-4695-a34a-63d7f9685243 g.chr10:76797686T>G uc001jwq.1 - 3 571 c.571A>C c.(571-573)AAG>CAG p.K191Q NM_001003892 NP_001003892 Q68J44 DUPD1_HUMAN dual specificity phosphatase and pro isomerase 191 Tyrosine-protein phosphatase. cytoplasm protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity ovary(2) 2 all_cancers(46;0.0207)|all_epithelial(25;0.00126)|Prostate(51;0.0112)|Ovarian(15;0.0348) CGGAGCTGCTTCAAAAAGCCC 0.642 NA 19 65 0 0 0 0 C10orf12 26148 broad.mit.edu 37 10 98742212 98742212 + Silent SNP C C T TCGA-CV-7263-01A-11D-2012-08 TCGA-CV-7263-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 19a07472-c8b9-4a34-b2cb-11ace35e7903 d34d6638-773d-4695-a34a-63d7f9685243 g.chr10:98742212C>T uc001kmv.2 + 1 1172 c.1065C>T c.(1063-1065)CCC>CCT p.P355P C10orf12_uc009xvg.1_Silent_p.P665P NM_015652 NP_056467 Q8N655 CJ012_HUMAN hypothetical protein LOC26148 355 skin(2) 2 Colorectal(252;0.172) Epithelial(162;6.35e-09)|all cancers(201;3.21e-07) TGAGTGTACCCCAGGACTGTC 0.522 NA 37 80 0 0 0 0 GFRA1 2674 broad.mit.edu 37 10 118030435 118030435 + Missense_Mutation SNP G G A TCGA-CV-7263-01A-11D-2012-08 TCGA-CV-7263-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 19a07472-c8b9-4a34-b2cb-11ace35e7903 d34d6638-773d-4695-a34a-63d7f9685243 g.chr10:118030435G>A uc001lcj.2 - 3 931 c.233C>T c.(232-234)GCC>GTC p.A78V GFRA1_uc001lci.2_Missense_Mutation_p.A78V|GFRA1_uc009xyr.2_Missense_Mutation_p.A78V NM_005264 NP_005255 P56159 GFRA1_HUMAN GDNF family receptor alpha 1 isoform a 78 1 axon guidance anchored to membrane|extrinsic to membrane|plasma membrane glial cell-derived neurotrophic factor receptor activity ovary(1)|pancreas(1) 2 Lung NSC(174;0.21) all cancers(201;0.0337) CTGCTTCAGGGCCTCCATGGC 0.602 NA 13 34 0 0 0 0 PDZD8 118987 broad.mit.edu 37 10 119043244 119043244 + Missense_Mutation SNP C C A TCGA-CV-7263-01A-11D-2012-08 TCGA-CV-7263-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 19a07472-c8b9-4a34-b2cb-11ace35e7903 d34d6638-773d-4695-a34a-63d7f9685243 g.chr10:119043244C>A uc001lde.1 - 5 3199 c.3000G>T c.(2998-3000)AAG>AAT p.K1000N NM_173791 NP_776152 Q8NEN9 PDZD8_HUMAN PDZ domain containing 8 1000 intracellular signal transduction metal ion binding 0 Colorectal(252;0.19) all cancers(201;0.0121) TTCTCACTAACTTTATTCCTG 0.478 NA 88 167 2.93e-44 8.54e-44 1 0 GRK5 2869 broad.mit.edu 37 10 121212266 121212266 + Silent SNP C C T TCGA-CV-7263-01A-11D-2012-08 TCGA-CV-7263-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 19a07472-c8b9-4a34-b2cb-11ace35e7903 d34d6638-773d-4695-a34a-63d7f9685243 g.chr10:121212266C>T uc001led.2 + 14 1721 c.1488C>T c.(1486-1488)GAC>GAT p.D496D GRK5_uc009xzh.2_Silent_p.D361D NM_005308 NP_005299 P34947 GRK5_HUMAN G protein-coupled receptor kinase 5 496 AGC-kinase C-terminal. G-protein signaling, coupled to cAMP nucleotide second messenger|regulation of G-protein coupled receptor protein signaling pathway|tachykinin receptor signaling pathway cytoplasm|plasma membrane|soluble fraction ATP binding|G-protein coupled receptor kinase activity|phospholipid binding|protein kinase C binding|signal transducer activity lung(2)|stomach(1) 3 Lung NSC(174;0.0971)|all_lung(145;0.127)|Ovarian(717;0.249) all cancers(201;0.0227) ACACAGACGACGACTTCTACT 0.597 NA 9 25 0 0 0 0 MUC5B 727897 broad.mit.edu 37 11 1272638 1272638 + Missense_Mutation SNP G G A TCGA-CV-7263-01A-11D-2012-08 TCGA-CV-7263-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 19a07472-c8b9-4a34-b2cb-11ace35e7903 d34d6638-773d-4695-a34a-63d7f9685243 g.chr11:1272638G>A uc009ycr.1 + 52 15620 c.15494G>A c.(15493-15495)GGG>GAG p.G5165E MUC5B_uc001ltb.2_Missense_Mutation_p.G4846E NM_017511 NP_059981 Q9HC84 MUC5B_HUMAN SubName: Full=Mucin 5AC, oligomeric mucus/gel-forming; 4843 23 X approximate tandem repeats, Ser/Thr- rich.|Thr-rich. cell adhesion extracellular region extracellular matrix structural constituent|protein binding 0 all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1) TCCACCCCAGGGACCACCTGG 0.637 NA 52 84 0 0 0 0 SPRYD5 84767 broad.mit.edu 37 11 55653067 55653067 + Missense_Mutation SNP T T G TCGA-CV-7263-01A-11D-2012-08 TCGA-CV-7263-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 19a07472-c8b9-4a34-b2cb-11ace35e7903 d34d6638-773d-4695-a34a-63d7f9685243 g.chr11:55653067T>G uc010rip.1 + 2 255 c.163T>G c.(163-165)TGC>GGC p.C55G SPRYD5_uc010riq.1_5'Flank NM_032681 NP_116070 Q9BSJ1 SPRY5_HUMAN SPRY domain containing 5 55 RING-type. intracellular zinc ion binding 0 all_epithelial(135;0.226) GTGCTCTGAATGCAAGAAGAC 0.507 NA 7 38 0 0 0 0 PYGM 5837 broad.mit.edu 37 11 64519456 64519456 + Missense_Mutation SNP G G A TCGA-CV-7263-01A-11D-2012-08 TCGA-CV-7263-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 19a07472-c8b9-4a34-b2cb-11ace35e7903 d34d6638-773d-4695-a34a-63d7f9685243 g.chr11:64519456G>A uc001oax.3 - 14 2525 c.1708C>T c.(1708-1710)CGG>TGG p.R570W PYGM_uc001oay.3_Missense_Mutation_p.R482W NM_005609 NP_005600 P11217 PYGM_HUMAN muscle glycogen phosphorylase isoform 1 570 glucose metabolic process|glycogen catabolic process cytosol glycogen phosphorylase activity|protein binding ovary(2) 2 Pyridoxal Phosphate(DB00114) TCGTGAATCCGCTTCACCTGG 0.512 NA 15 81 0 0 0 0 CLCF1 23529 broad.mit.edu 37 11 67134940 67134940 + Silent SNP A A T TCGA-CV-7263-01A-11D-2012-08 TCGA-CV-7263-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 19a07472-c8b9-4a34-b2cb-11ace35e7903 d34d6638-773d-4695-a34a-63d7f9685243 g.chr11:67134940A>T uc001okq.2 - 2 370 c.174T>A c.(172-174)GCT>GCA p.A58A LOC100130987_uc010rpo.1_Intron|CLCF1_uc010rpp.1_Silent_p.A48A NM_013246 NP_037378 Q9UBD9 CLCF1_HUMAN cardiotrophin-like cytokine factor 1 precursor 58 B cell differentiation|cytokine-mediated signaling pathway|JAK-STAT cascade|negative regulation of neuron apoptosis|positive regulation of astrocyte differentiation|positive regulation of B cell proliferation|positive regulation of immunoglobulin production|positive regulation of isotype switching to IgE isotypes|positive regulation of tyrosine phosphorylation of Stat3 protein extracellular space ciliary neurotrophic factor receptor binding|cytokine activity|growth factor activity|protein heterodimerization activity 0 BRCA - Breast invasive adenocarcinoma(15;2.39e-06) CATAGGTCCCAGCCAAGCTGC 0.577 NA 38 68 0 0 0 0 MMP20 9313 broad.mit.edu 37 11 102480739 102480739 + Silent SNP G G A rs148659857 byFrequency TCGA-CV-7263-01A-11D-2012-08 TCGA-CV-7263-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 19a07472-c8b9-4a34-b2cb-11ace35e7903 d34d6638-773d-4695-a34a-63d7f9685243 g.chr11:102480739G>A uc001phc.2 - 4 559 c.546C>T c.(544-546)TTC>TTT p.F182F NM_004771 NP_004762 O60882 MMP20_HUMAN matrix metalloproteinase 20 preproprotein 182 proteolysis|regulation of enamel mineralization extracellular space|proteinaceous extracellular matrix calcium ion binding|metalloendopeptidase activity|protein binding|zinc ion binding urinary_tract(1)|skin(1) 2 all_cancers(8;8.95e-05)|all_epithelial(12;0.00227)|Lung NSC(15;0.139) Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0033) Epithelial(9;0.0216)|Lung(13;0.0711)|all cancers(10;0.0889)|LUSC - Lung squamous cell carcinoma(19;0.13) BRCA - Breast invasive adenocarcinoma(274;0.0161) GAGGCCCATCGAATGGATAGG 0.498 NA 8 40 0 0 0 0 PCSK7 9159 broad.mit.edu 37 11 117095455 117095455 + Missense_Mutation SNP C C T TCGA-CV-7263-01A-11D-2012-08 TCGA-CV-7263-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 19a07472-c8b9-4a34-b2cb-11ace35e7903 d34d6638-773d-4695-a34a-63d7f9685243 g.chr11:117095455C>T uc001pqr.2 - 7 1078 c.877G>A c.(877-879)GAT>AAT p.D293N NM_004716 NP_004707 Q16549 PCSK7_HUMAN proprotein convertase subtilisin/kexin type 7 293 Catalytic.|Extracellular (Potential). peptide hormone processing integral to Golgi membrane serine-type endopeptidase activity 0 all_hematologic(175;0.0487) Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234) BRCA - Breast invasive adenocarcinoma(274;1.72e-06)|Epithelial(105;6.71e-05)|all cancers(92;0.000537) GTCTTCCCATCGTCATCTGGT 0.577 NA T IGH@ MLCLS 50 191 0 0 0 0 DSCAML1 57453 broad.mit.edu 37 11 117303096 117303096 + Silent SNP G G A TCGA-CV-7263-01A-11D-2012-08 TCGA-CV-7263-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 19a07472-c8b9-4a34-b2cb-11ace35e7903 d34d6638-773d-4695-a34a-63d7f9685243 g.chr11:117303096G>A uc001prh.1 - 30 5333 c.5331C>T c.(5329-5331)ATC>ATT p.I1777I NM_020693 NP_065744 Q8TD84 DSCL1_HUMAN Down syndrome cell adhesion molecule like 1 1717 Cytoplasmic (Potential). axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion cell surface|integral to membrane|plasma membrane protein homodimerization activity ovary(3)|large_intestine(2)|skin(2)|upper_aerodigestive_tract(1) 8 all_hematologic(175;0.0487) Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232) BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172) CAGACATGTCGATGAGGGGTC 0.572 NA 6 42 0 0 0 0 TBCEL 219899 broad.mit.edu 37 11 120925792 120925792 + Missense_Mutation SNP T T C TCGA-CV-7263-01A-11D-2012-08 TCGA-CV-7263-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 19a07472-c8b9-4a34-b2cb-11ace35e7903 d34d6638-773d-4695-a34a-63d7f9685243 g.chr11:120925792T>C uc009zay.2 + 5 565 c.487T>C c.(487-489)TAT>CAT p.Y163H TBCEL_uc001pxo.2_Missense_Mutation_p.Y163H|TBCEL_uc001pxp.2_Missense_Mutation_p.Y19H|TBCEL_uc001pxq.2_Intron NM_001130047 NP_001123519 Q5QJ74 TBCEL_HUMAN tubulin folding cofactor E-like 163 LRR 4. cytoplasm|cytoskeleton skin(1) 1 Breast(109;0.00526)|Medulloblastoma(222;0.0523)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;5.89e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.121) CCTTAATGACTATGAAACAGT 0.343 NA 10 46 0 0 0 0 NRGN 4900 broad.mit.edu 37 11 124615418 124615418 + Missense_Mutation SNP C C T TCGA-CV-7263-01A-11D-2012-08 TCGA-CV-7263-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 19a07472-c8b9-4a34-b2cb-11ace35e7903 d34d6638-773d-4695-a34a-63d7f9685243 g.chr11:124615418C>T uc001qaq.2 + 2 187 c.35C>T c.(34-36)CCG>CTG p.P12L NRGN_uc001qar.2_Missense_Mutation_p.P12L NM_006176 NP_006167 Q92686 NEUG_HUMAN neurogranin 12 nervous system development|signal transduction calmodulin binding 0 all_hematologic(175;0.215) Breast(109;0.00109)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0214) TGCTCCAAGCCGGACGACGAC 0.647 NA 9 56 0 0 0 0 MGP 4256 broad.mit.edu 37 12 15035958 15035958 + Missense_Mutation SNP C C T TCGA-CV-7263-01A-11D-2012-08 TCGA-CV-7263-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 19a07472-c8b9-4a34-b2cb-11ace35e7903 d34d6638-773d-4695-a34a-63d7f9685243 g.chr12:15035958C>T uc001rcn.1 - 3 221 c.118G>A c.(118-120)GCA>ACA p.A40T NM_000900 NP_000891 P08493 MGP_HUMAN matrix Gla protein precursor 40 cartilage condensation|cell differentiation|ossification|regulation of bone mineralization proteinaceous extracellular matrix calcium ion binding|extracellular matrix structural constituent|structural constituent of bone ovary(1) 1 AAGGTATTTGCATTTCTCCTG 0.383 NA 11 32 0 0 0 0 PDE3A 5139 broad.mit.edu 37 12 20782996 20782996 + Missense_Mutation SNP A A T TCGA-CV-7263-01A-11D-2012-08 TCGA-CV-7263-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 19a07472-c8b9-4a34-b2cb-11ace35e7903 d34d6638-773d-4695-a34a-63d7f9685243 g.chr12:20782996A>T uc001reh.1 + 6 1717 c.1695A>T c.(1693-1695)TTA>TTT p.L565F NM_000921 NP_000912 Q14432 PDE3A_HUMAN phosphodiesterase 3A 565 lipid metabolic process|platelet activation|signal transduction cytosol|integral to membrane 3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding ovary(3)|upper_aerodigestive_tract(1) 4 Esophageal squamous(101;0.125) Breast(259;0.134) Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Cilostazol(DB01166)|Enoximone(DB04880)|Milrinone(DB00235)|Theophylline(DB00277) ACAGGGCCTTAACTTACACTC 0.453 NA 77 121 0 0 0 0 NUP107 57122 broad.mit.edu 37 12 69083344 69083344 + Silent SNP T T C TCGA-CV-7263-01A-11D-2012-08 TCGA-CV-7263-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 19a07472-c8b9-4a34-b2cb-11ace35e7903 d34d6638-773d-4695-a34a-63d7f9685243 g.chr12:69083344T>C uc001suf.2 + 3 247 c.132T>C c.(130-132)AAT>AAC p.N44N uc001sud.1_5'Flank|uc001sue.1_5'Flank|NUP107_uc001sug.2_5'UTR|NUP107_uc010stj.1_Missense_Mutation_p.I6T NM_020401 NP_065134 P57740 NU107_HUMAN nucleoporin 107kDa 44 carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA export from nucleus|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction condensed chromosome kinetochore|cytosol|Nup107-160 complex nucleocytoplasmic transporter activity|protein binding skin(1) 1 Breast(13;6.25e-06) Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.00694) ATTTTGGTAATACTACACCAA 0.328 NA 16 48 0 0 0 0 ANO4 121601 broad.mit.edu 37 12 101295618 101295618 + Missense_Mutation SNP G G A TCGA-CV-7263-01A-11D-2012-08 TCGA-CV-7263-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 19a07472-c8b9-4a34-b2cb-11ace35e7903 d34d6638-773d-4695-a34a-63d7f9685243 g.chr12:101295618G>A uc010svm.1 + 2 627 c.55G>A c.(55-57)GAA>AAA p.E19K ANO4_uc010svl.1_RNA|ANO4_uc001thw.2_Missense_Mutation_p.V19M|ANO4_uc001thx.2_Missense_Mutation_p.E19K NM_178826 NP_849148 Q32M45 ANO4_HUMAN anoctamin 4 19 Extracellular (Potential). chloride channel complex chloride channel activity ovary(4)|skin(2) 6 CTTCCACCCAGGTGATGCATG 0.443 NA HNSCC(74;0.22) 29 69 0 0 0 0 PTPN11 5781 broad.mit.edu 37 12 112940025 112940025 + Silent SNP T T C TCGA-CV-7263-01A-11D-2012-08 TCGA-CV-7263-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 19a07472-c8b9-4a34-b2cb-11ace35e7903 d34d6638-773d-4695-a34a-63d7f9685243 g.chr12:112940025T>C uc001ttx.2 + 14 2057 c.1677T>C c.(1675-1677)CCT>CCC p.P559P NM_002834 NP_002825 Q06124 PTN11_HUMAN protein tyrosine phosphatase, non-receptor type 563 axon guidance|cell junction assembly|ephrin receptor signaling pathway|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|interferon-gamma-mediated signaling pathway|leukocyte migration|platelet activation|regulation of cell adhesion mediated by integrin|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 non-membrane spanning protein tyrosine phosphatase activity|protein binding haematopoietic_and_lymphoid_tissue(375)|lung(6)|autonomic_ganglia(2)|soft_tissue(2)|central_nervous_system(2)|large_intestine(1)|skin(1)|ovary(1)|NS(1)|kidney(1) 392 ATCAGAGCCCTCTCCCGCCTT 0.423 NA Mis JMML|AML|MDS Noonan Syndrome Noonan_syndrome 5 162 0 0 0 0 DTX1 1840 broad.mit.edu 37 12 113496166 113496166 + Missense_Mutation SNP C C T TCGA-CV-7263-01A-11D-2012-08 TCGA-CV-7263-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 19a07472-c8b9-4a34-b2cb-11ace35e7903 d34d6638-773d-4695-a34a-63d7f9685243 g.chr12:113496166C>T uc001tuk.1 + 1 505 c.169C>T c.(169-171)CGC>TGC p.R57C NM_004416 NP_004407 Q86Y01 DTX1_HUMAN deltex homolog 1 57 WWE 1. negative regulation of neuron differentiation|Notch signaling pathway|regulation of Notch signaling pathway|transcription from RNA polymerase II promoter cytoplasm|nucleus Notch binding|SH3 domain binding|transcription coactivator activity|ubiquitin protein ligase binding|zinc ion binding lung(2)|ovary(1)|central_nervous_system(1) 4 GGAGGACGCTCGCGGTTCCGT 0.642 NA 26 101 0 0 0 0 SYNE2 23224 broad.mit.edu 37 14 64522880 64522880 + Silent SNP C C T TCGA-CV-7263-01A-11D-2012-08 TCGA-CV-7263-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 19a07472-c8b9-4a34-b2cb-11ace35e7903 d34d6638-773d-4695-a34a-63d7f9685243 g.chr14:64522880C>T uc001xgm.2 + 49 10193 c.9963C>T c.(9961-9963)TCC>TCT p.S3321S SYNE2_uc001xgl.2_Silent_p.S3321S|SYNE2_uc010apw.1_Silent_p.S27S NM_015180 NP_055995 Q8WXH0 SYNE2_HUMAN spectrin repeat containing, nuclear envelope 2 3321 Cytoplasmic (Potential).|Potential. centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc actin binding|protein binding ovary(8)|breast(4)|central_nervous_system(1)|pancreas(1) 14 all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681) GAATGATATCCAGCCCCGAAG 0.433 NA 8 31 0 0 0 0 TJP1 7082 broad.mit.edu 37 15 30008972 30008972 + Missense_Mutation SNP C C T TCGA-CV-7263-01A-11D-2012-08 TCGA-CV-7263-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 19a07472-c8b9-4a34-b2cb-11ace35e7903 d34d6638-773d-4695-a34a-63d7f9685243 g.chr15:30008972C>T uc001zcr.2 - 23 4520 c.4045G>A c.(4045-4047)GAA>AAA p.E1349K TJP1_uc010azl.2_Missense_Mutation_p.E1337K|TJP1_uc001zcq.2_Missense_Mutation_p.E1273K|TJP1_uc001zcs.2_Missense_Mutation_p.E1269K NM_003257 NP_003248 Q07157 ZO1_HUMAN tight junction protein 1 isoform a 1349 cell-cell junction assembly|cellular component disassembly involved in apoptosis basolateral plasma membrane|cell-cell adherens junction|Golgi apparatus|tight junction ovary(4)|central_nervous_system(1)|pancreas(1) 6 all_lung(180;7.48e-11)|Breast(32;0.000153) all cancers(64;3.29e-10)|Epithelial(43;5.34e-09)|BRCA - Breast invasive adenocarcinoma(123;0.0034)|GBM - Glioblastoma multiforme(186;0.0139)|Lung(196;0.186) TCATCTTCTTCAGGGTCATAA 0.428 NA 9 46 0 0 0 0 UBR1 197131 broad.mit.edu 37 15 43360173 43360173 + Missense_Mutation SNP C C T TCGA-CV-7263-01A-11D-2012-08 TCGA-CV-7263-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 19a07472-c8b9-4a34-b2cb-11ace35e7903 d34d6638-773d-4695-a34a-63d7f9685243 g.chr15:43360173C>T uc001zqq.2 - 6 787 c.721G>A c.(721-723)GTC>ATC p.V241I UBR1_uc010udk.1_Missense_Mutation_p.V241I NM_174916 NP_777576 Q8IWV7 UBR1_HUMAN ubiquitin protein ligase E3 component n-recognin 241 cellular response to leucine|negative regulation of TOR signaling cascade cytosol leucine binding|zinc ion binding lung(1) 1 all_cancers(109;4.32e-15)|all_epithelial(112;4.05e-13)|Lung NSC(122;1.75e-08)|all_lung(180;2e-07)|Melanoma(134;0.0179)|Colorectal(260;0.215) GBM - Glioblastoma multiforme(94;4.08e-07)|COAD - Colon adenocarcinoma(120;0.185)|Colorectal(105;0.214) CTGTATATGACGTGGTCATAT 0.383 NA 11 83 0 0 0 0 NHLRC4 283948 broad.mit.edu 37 16 618123 618123 + Missense_Mutation SNP G G A TCGA-CV-7263-01A-11D-2012-08 TCGA-CV-7263-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 19a07472-c8b9-4a34-b2cb-11ace35e7903 d34d6638-773d-4695-a34a-63d7f9685243 g.chr16:618123G>A uc002chl.2 + 2 672 c.76G>A c.(76-78)GAT>AAT p.D26N PIGQ_uc010bqw.2_Intron|PIGQ_uc002chm.2_5'Flank|PIGQ_uc002chn.2_5'Flank|PIGQ_uc002cho.2_5'Flank NM_176677 NP_788850 P0CG21 NHLC4_HUMAN hypothetical protein LOC283948 26 0 GGAGTTTGGGGATGTGAGGCT 0.687 NA 6 14 0 0 0 0 SMG1 23049 broad.mit.edu 37 16 18828771 18828771 + Missense_Mutation SNP T T C TCGA-CV-7263-01A-11D-2012-08 TCGA-CV-7263-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 19a07472-c8b9-4a34-b2cb-11ace35e7903 d34d6638-773d-4695-a34a-63d7f9685243 g.chr16:18828771T>C uc002dfm.2 - 57 10279 c.9916A>G c.(9916-9918)ATC>GTC p.I3306V SMG1_uc010bwb.2_Missense_Mutation_p.I3166V|SMG1_uc010bwa.2_Missense_Mutation_p.I2037V NM_015092 NP_055907 Q96Q15 SMG1_HUMAN PI-3-kinase-related kinase SMG-1 3306 DNA repair|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|peptidyl-serine phosphorylation|phosphatidylinositol phosphorylation|protein autophosphorylation cytoplasm|nucleus ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity breast(5)|stomach(4)|lung(4)|kidney(2)|ovary(1) 16 AAATGAATGATATTGCTGCAG 0.413 NA 2 8 0 0 0 0 GTF3C1 2975 broad.mit.edu 37 16 27544670 27544670 + Missense_Mutation SNP A A T TCGA-CV-7263-01A-11D-2012-08 TCGA-CV-7263-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 19a07472-c8b9-4a34-b2cb-11ace35e7903 d34d6638-773d-4695-a34a-63d7f9685243 g.chr16:27544670A>T uc002dov.1 - 5 831 c.791T>A c.(790-792)GTC>GAC p.V264D GTF3C1_uc002dou.2_Missense_Mutation_p.V264D NM_001520 NP_001511 Q12789 TF3C1_HUMAN general transcription factor IIIC, polypeptide 264 transcription factor TFIIIC complex DNA binding|protein binding ovary(2)|pancreas(1)|breast(1)|skin(1) 5 GCTCAGCATGACCGAAAGCTT 0.522 NA 21 54 0 0 0 0 NUP88 4927 broad.mit.edu 37 17 5290067 5290067 + Missense_Mutation SNP G G A TCGA-CV-7263-01A-11D-2012-08 TCGA-CV-7263-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 19a07472-c8b9-4a34-b2cb-11ace35e7903 d34d6638-773d-4695-a34a-63d7f9685243 g.chr17:5290067G>A uc002gbo.1 - 16 2149 c.2123C>T c.(2122-2124)GCC>GTC p.A708V NUP88_uc002gbn.2_5'Flank|NUP88_uc010vsx.1_Missense_Mutation_p.A724V NM_002532 NP_002523 Q99567 NUP88_HUMAN nucleoporin 88kDa 708 carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction cytosol|nuclear pore transporter activity kidney(1) 1 TCGCTGGTAGGCACTGAGAAT 0.368 NA 32 46 0 0 0 0 TP53 7157 broad.mit.edu 37 17 7579378 7579378 + Nonsense_Mutation SNP G G C TCGA-CV-7263-01A-11D-2012-08 TCGA-CV-7263-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 19a07472-c8b9-4a34-b2cb-11ace35e7903 d34d6638-773d-4695-a34a-63d7f9685243 g.chr17:7579378G>C uc002gim.2 - 4 503 c.309C>G c.(307-309)TAC>TAG p.Y103* TP53_uc002gig.1_Nonsense_Mutation_p.Y103*|TP53_uc002gih.2_Nonsense_Mutation_p.Y103*|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_5'Flank|TP53_uc010cng.1_5'Flank|TP53_uc002gii.1_5'Flank|TP53_uc010cnh.1_Nonsense_Mutation_p.Y103*|TP53_uc010cni.1_Nonsense_Mutation_p.Y103*|TP53_uc002gij.2_Nonsense_Mutation_p.Y103*|TP53_uc010cnj.1_5'Flank|TP53_uc002gin.2_Intron|TP53_uc002gio.2_Intron|TP53_uc010vug.1_Nonsense_Mutation_p.Y64*|TP53_uc010cnk.1_Nonsense_Mutation_p.Y118* NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 103 Interaction with HIPK1 (By similarity).||Interaction with WWOX. activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.0?(7)|p.G59fs*23(3)|p.Y103*(2)|p.V73fs*9(1)|p.Y103Y(1)|p.Y103_Q104>**(1)|p.W91fs*13(1)|p.Y103_G112>C(1)|p.P13fs*18(1)|p.S33fs*23(1)|p.Y103_L111>L(1)|p.Y103fs*15(1) large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1) 22245 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) AGCTGCCCTGGTAGGTTTTCT 0.637 111 Mis|N|F breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types Other_conserved_DNA_damage_response_genes Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 28 46 0 0 0 0 CHD3 1107 broad.mit.edu 37 17 7802768 7802768 + Silent SNP G G A TCGA-CV-7263-01A-11D-2012-08 TCGA-CV-7263-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 19a07472-c8b9-4a34-b2cb-11ace35e7903 d34d6638-773d-4695-a34a-63d7f9685243 g.chr17:7802768G>A uc002gje.2 + 15 2601 c.2451G>A c.(2449-2451)ACG>ACA p.T817T CHD3_uc002gjd.2_Silent_p.T876T|CHD3_uc002gjf.2_Silent_p.T817T NM_001005273 NP_001005273 Q12873 CHD3_HUMAN chromodomain helicase DNA binding protein 3 817 Helicase ATP-binding. chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent microtubule organizing center|NuRD complex ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|zinc ion binding breast(1) 1 Prostate(122;0.202) TGACATACACGGGTGACAAGG 0.498 NA 43 78 0 0 0 0 MYH10 4628 broad.mit.edu 37 17 8398540 8398540 + Missense_Mutation SNP G G A TCGA-CV-7263-01A-11D-2012-08 TCGA-CV-7263-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 19a07472-c8b9-4a34-b2cb-11ace35e7903 d34d6638-773d-4695-a34a-63d7f9685243 g.chr17:8398540G>A uc002gll.2 - 29 3974 c.3878C>T c.(3877-3879)TCC>TTC p.S1293F MYH10_uc002glm.2_Missense_Mutation_p.S1324F|MYH10_uc010cnx.2_Missense_Mutation_p.S1302F NM_005964 NP_005955 P35580 MYH10_HUMAN myosin, heavy polypeptide 10, non-muscle 1293 Potential. actin filament-based movement|axon guidance|cytokinesis after mitosis|regulation of cell shape cell cortex|cleavage furrow|midbody|myosin complex|stress fiber actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity ovary(2) 2 CAGAAGGGTGGAGACATTATC 0.413 NA 11 22 0 0 0 0 GAS2L2 246176 broad.mit.edu 37 17 34077293 34077293 + Missense_Mutation SNP C C A TCGA-CV-7263-01A-11D-2012-08 TCGA-CV-7263-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 19a07472-c8b9-4a34-b2cb-11ace35e7903 d34d6638-773d-4695-a34a-63d7f9685243 g.chr17:34077293C>A uc002hjv.1 - 2 458 c.430G>T c.(430-432)GTG>TTG p.V144L NM_139285 NP_644814 Q8NHY3 GA2L2_HUMAN growth arrest-specific 2 like 2 144 CH. cell cycle arrest cytoplasm|cytoskeleton ovary(1)|skin(1) 2 Ovarian(249;0.17) UCEC - Uterine corpus endometrioid carcinoma (308;0.0182) ACGTTCTTCACGTTCTTGCGC 0.642 NA 34 235 6.29e-14 1.8e-13 1 0 KRT39 390792 broad.mit.edu 37 17 39118751 39118751 + Missense_Mutation SNP G G A TCGA-CV-7263-01A-11D-2012-08 TCGA-CV-7263-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 19a07472-c8b9-4a34-b2cb-11ace35e7903 d34d6638-773d-4695-a34a-63d7f9685243 g.chr17:39118751G>A uc002hvo.1 - 4 809 c.773C>T c.(772-774)TCT>TTT p.S258F KRT39_uc010wfm.1_5'UTR NM_213656 NP_998821 Q6A163 K1C39_HUMAN type I hair keratin KA35 258 Linker 12.|Rod. intermediate filament structural molecule activity 0 Breast(137;0.00043)|Ovarian(249;0.15) TAGGTCAGCAGAAGGGGCAGC 0.448 NA 129 256 0 0 0 0 STAT5B 6777 broad.mit.edu 37 17 40359689 40359689 + Missense_Mutation SNP G G T TCGA-CV-7263-01A-11D-2012-08 TCGA-CV-7263-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 19a07472-c8b9-4a34-b2cb-11ace35e7903 d34d6638-773d-4695-a34a-63d7f9685243 g.chr17:40359689G>T uc002hzh.2 - 16 2133 c.1964C>A c.(1963-1965)TCC>TAC p.S655Y NM_012448 NP_036580 P51692 STA5B_HUMAN signal transducer and activator of transcription 655 SH2. 2-oxoglutarate metabolic process|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|fatty acid metabolic process|isoleucine metabolic process|JAK-STAT cascade involved in growth hormone signaling pathway|oxaloacetate metabolic process|response to estradiol stimulus|succinate metabolic process|taurine metabolic process|valine metabolic process cytosol|nucleoplasm calcium ion binding|glucocorticoid receptor binding|sequence-specific DNA binding transcription factor activity ovary(3)|lung(2)|skin(1) 6 all_cancers(22;4.15e-07)|all_epithelial(22;2.83e-05)|Breast(137;0.000143) BRCA - Breast invasive adenocarcinoma(366;0.135) Dasatinib(DB01254) GTCGGCTAGGGACCGAATGGA 0.418 NA 13 46 7.04e-09 1.96e-08 1 0 TUBD1 51174 broad.mit.edu 37 17 57951968 57951968 + Missense_Mutation SNP G G A TCGA-CV-7263-01A-11D-2012-08 TCGA-CV-7263-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 19a07472-c8b9-4a34-b2cb-11ace35e7903 d34d6638-773d-4695-a34a-63d7f9685243 g.chr17:57951968G>A uc002ixw.1 - 6 1144 c.866C>T c.(865-867)ACA>ATA p.T289I TUBD1_uc010ddf.1_Intron|TUBD1_uc010ddg.1_Missense_Mutation_p.T254I|TUBD1_uc010ddh.1_Intron|TUBD1_uc010wok.1_Missense_Mutation_p.T289I|TUBD1_uc002ixx.1_Intron|TUBD1_uc010wol.1_Missense_Mutation_p.T73I|TUBD1_uc010ddi.1_Intron NM_016261 NP_057345 Q9UJT1 TBD_HUMAN delta-tubulin 289 cell differentiation|microtubule-based movement|multicellular organismal development|protein polymerization|spermatogenesis centriole|microtubule|nucleus GTP binding|GTPase activity|structural molecule activity ovary(1) 1 all_cancers(5;3.18e-13)|Breast(5;2.91e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922) Epithelial(12;9.34e-13)|all cancers(12;1.91e-11) CCAAGTAAATGTGGTGTATGC 0.423 NA 31 218 0 0 0 0 SOX9 6662 broad.mit.edu 37 17 70120341 70120341 + Missense_Mutation SNP C C T TCGA-CV-7263-01A-11D-2012-08 TCGA-CV-7263-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 19a07472-c8b9-4a34-b2cb-11ace35e7903 d34d6638-773d-4695-a34a-63d7f9685243 g.chr17:70120341C>T uc002jiw.2 + 3 1715 c.1343C>T c.(1342-1344)TCC>TTC p.S448F NM_000346 NP_000337 P48436 SOX9_HUMAN transcription factor SOX9 448 cAMP-mediated signaling|negative regulation of transcription, DNA-dependent|positive regulation of branching involved in ureteric bud morphogenesis|protein complex assembly|renal vesicle induction nucleus|protein complex core promoter sequence-specific DNA binding|enhancer binding|protein kinase A catalytic subunit binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription 0 Colorectal(1115;0.245) STAD - Stomach adenocarcinoma(260;0.119) CACCAGAACTCCAGCTCCTAC 0.637 NA 21 151 0 0 0 0 ENOSF1 55556 broad.mit.edu 37 18 683302 683302 + Missense_Mutation SNP A A C TCGA-CV-7263-01A-11D-2012-08 TCGA-CV-7263-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 19a07472-c8b9-4a34-b2cb-11ace35e7903 d34d6638-773d-4695-a34a-63d7f9685243 g.chr18:683302A>C uc002kku.3 - 11 895 c.820T>G c.(820-822)TGG>GGG p.W274G ENOSF1_uc002kkt.3_Missense_Mutation_p.W192G|ENOSF1_uc010dke.2_RNA|ENOSF1_uc010dkf.2_Missense_Mutation_p.W295G|ENOSF1_uc002kkv.3_Missense_Mutation_p.W261G|ENOSF1_uc002kkw.3_Missense_Mutation_p.W93G|ENOSF1_uc002kkx.3_Missense_Mutation_p.W198G NM_017512 NP_059982 Q7L5Y1 ENOF1_HUMAN enolase superfamily 1 isoform rTS beta 274 cellular amino acid catabolic process mitochondrion isomerase activity|metal ion binding ovary(1) 1 TCCTCAATCCACAATGGCTTG 0.532 NA 35 73 0 0 0 0 LAMA1 284217 broad.mit.edu 37 18 6956637 6956637 + Missense_Mutation SNP G G A TCGA-CV-7263-01A-11D-2012-08 TCGA-CV-7263-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 19a07472-c8b9-4a34-b2cb-11ace35e7903 d34d6638-773d-4695-a34a-63d7f9685243 g.chr18:6956637G>A uc002knm.2 - 56 8186 c.8092C>T c.(8092-8094)CCA>TCA p.P2698S LAMA1_uc002knk.2_5'Flank|LAMA1_uc002knl.2_Missense_Mutation_p.P151S|LAMA1_uc010wzj.1_Missense_Mutation_p.P2174S NM_005559 NP_005550 P25391 LAMA1_HUMAN laminin, alpha 1 precursor 2698 axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development extracellular space|laminin-1 complex|laminin-3 complex extracellular matrix structural constituent|receptor binding ovary(8)|large_intestine(4)|upper_aerodigestive_tract(2)|breast(2)|skin(2)|pancreas(2)|central_nervous_system(1) 21 Colorectal(10;0.172) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) GCTCCTACTGGAAAAGCCCGG 0.572 NA 13 77 0 0 0 0 VPS4B 9525 broad.mit.edu 37 18 61074674 61074674 + Nonsense_Mutation SNP G G A TCGA-CV-7263-01A-11D-2012-08 TCGA-CV-7263-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 19a07472-c8b9-4a34-b2cb-11ace35e7903 d34d6638-773d-4695-a34a-63d7f9685243 g.chr18:61074674G>A uc002lix.2 - 4 615 c.355C>T c.(355-357)CAA>TAA p.Q119* VPS4B_uc010dpx.2_Nonsense_Mutation_p.Q119*|VPS4B_uc010dpy.2_Intron|VPS4B_uc010dpz.1_Intron NM_004869 NP_004860 O75351 VPS4B_HUMAN vacuolar protein sorting factor 4B 119 cell cycle|cell division|cellular membrane organization|endosome to lysosome transport via multivesicular body sorting pathway|intracellular cholesterol transport|protein transport|response to lipid cytosol|early endosome|late endosome membrane|lysosome|nucleus|vacuolar membrane ATP binding|ATPase activity, coupled|protein C-terminus binding ovary(1) 1 CCTTGAAGTTGATTCTGTAGT 0.289 NA 5 14 0 0 0 0 RTTN 25914 broad.mit.edu 37 18 67687941 67687941 + Missense_Mutation SNP C C T TCGA-CV-7263-01A-11D-2012-08 TCGA-CV-7263-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 19a07472-c8b9-4a34-b2cb-11ace35e7903 d34d6638-773d-4695-a34a-63d7f9685243 g.chr18:67687941C>T uc002lkp.2 - 45 6131 c.6063G>A c.(6061-6063)ATG>ATA p.M2021I RTTN_uc002lko.2_RNA|RTTN_uc010xfb.1_Missense_Mutation_p.M1109I|RTTN_uc002lkn.2_Missense_Mutation_p.M11I|RTTN_uc010dqp.2_Missense_Mutation_p.M273I NM_173630 NP_775901 Q86VV8 RTTN_HUMAN rotatin 2021 binding ovary(3)|pancreas(2)|skin(1)|breast(1)|central_nervous_system(1) 8 Esophageal squamous(42;0.129) TCTCCAGTGGCATCTGGGAAG 0.468 NA 19 115 0 0 0 0 EVI5L 115704 broad.mit.edu 37 19 7916351 7916351 + Missense_Mutation SNP G G A TCGA-CV-7263-01A-11D-2012-08 TCGA-CV-7263-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 19a07472-c8b9-4a34-b2cb-11ace35e7903 d34d6638-773d-4695-a34a-63d7f9685243 g.chr19:7916351G>A uc002min.2 + 7 939 c.785G>A c.(784-786)CGT>CAT p.R262H EVI5L_uc010xjz.1_Missense_Mutation_p.R262H|EVI5L_uc002mio.1_5'UTR NM_145245 NP_660288 Q96CN4 EVI5L_HUMAN ecotropic viral integration site 5-like isoform 262 Rab-GAP TBC. intracellular protein binding|Rab GTPase activator activity ovary(1) 1 ACCCACTTCCGTTCCCAAAGC 0.637 NA 39 81 0 0 0 0 GIPC1 10755 broad.mit.edu 37 19 14593541 14593541 + Missense_Mutation SNP T T C TCGA-CV-7263-01A-11D-2012-08 TCGA-CV-7263-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 19a07472-c8b9-4a34-b2cb-11ace35e7903 d34d6638-773d-4695-a34a-63d7f9685243 g.chr19:14593541T>C uc002myt.2 - 4 518 c.248A>G c.(247-249)TAT>TGT p.Y83C GIPC1_uc002myu.2_Missense_Mutation_p.Y83C|GIPC1_uc002myv.2_Intron|GIPC1_uc002myw.2_Intron|GIPC1_uc002myx.2_Missense_Mutation_p.Y83C|GIPC1_uc002myy.2_Intron NM_005716 NP_005707 O14908 GIPC1_HUMAN regulator of G-protein signalling 19 interacting 83 endothelial cell migration|G-protein coupled receptor protein signaling pathway|glutamate secretion|negative regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of transforming growth factor beta receptor signaling pathway|protein targeting|regulation of protein stability|regulation of synaptic plasticity|synaptic transmission cell cortex|dendritic shaft|dendritic spine|membrane fraction|soluble fraction|synaptic vesicle|vesicle membrane actin binding|myosin binding|protein homodimerization activity|receptor binding 0 GATCTTGCCATACAGCTCCTT 0.682 NA 8 26 0 0 0 0 ZNF331 55422 broad.mit.edu 37 19 54080198 54080198 + Silent SNP G G A TCGA-CV-7263-01A-11D-2012-08 TCGA-CV-7263-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 19a07472-c8b9-4a34-b2cb-11ace35e7903 d34d6638-773d-4695-a34a-63d7f9685243 g.chr19:54080198G>A uc002qbx.1 + 7 1818 c.384G>A c.(382-384)GAG>GAA p.E128E ZNF331_uc002qby.1_Silent_p.E128E|ZNF331_uc002qbz.1_Silent_p.E128E|ZNF331_uc002qca.1_Silent_p.E128E|ZNF331_uc010eqr.1_Silent_p.E128E|ZNF331_uc002qcb.1_Silent_p.E128E|ZNF331_uc002qcc.1_Silent_p.E128E|ZNF331_uc002qcd.1_Silent_p.E128E NM_018555 NP_061025 Q9NQX6 ZN331_HUMAN zinc finger protein 331 128 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding skin(3)|upper_aerodigestive_tract(1)|ovary(1)|lung(1) 6 GBM - Glioblastoma multiforme(134;0.00555) ATCATAAGGAGAATTCCTTTG 0.418 NA T ? follicular thyroid adenoma 41 90 0 0 0 0 SOX11 6664 broad.mit.edu 37 2 5833737 5833737 + Missense_Mutation SNP A A T TCGA-CV-7263-01A-11D-2012-08 TCGA-CV-7263-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 19a07472-c8b9-4a34-b2cb-11ace35e7903 d34d6638-773d-4695-a34a-63d7f9685243 g.chr2:5833737A>T uc002qyj.2 + 1 939 c.884A>T c.(883-885)GAC>GTC p.D295V NM_003108 NP_003099 P35716 SOX11_HUMAN SRY-box 11 295 cardiac ventricle formation|closure of optic fissure|cornea development in camera-type eye|embryonic digestive tract morphogenesis|embryonic skeletal system morphogenesis|eyelid development in camera-type eye|glial cell proliferation|hard palate development|lens morphogenesis in camera-type eye|limb bud formation|lung morphogenesis|negative regulation of cell death|negative regulation of glial cell proliferation|negative regulation of lymphocyte proliferation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription regulatory region DNA binding|neural crest cell development|neural tube formation|neuroepithelial cell differentiation|noradrenergic neuron differentiation|outflow tract morphogenesis|positive regulation of BMP signaling pathway|positive regulation of hippo signaling cascade|positive regulation of hormone secretion|positive regulation of neurogenesis|positive regulation of neuron differentiation|positive regulation of ossification|positive regulation of osteoblast differentiation|positive regulation of stem cell proliferation|regulation of transforming growth factor beta receptor signaling pathway|signal transduction involved in G1/S transition checkpoint|soft palate development|somite development|spinal cord development|sympathetic nervous system development|ventricular septum morphogenesis cytoplasm|nucleolus enhancer sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|RNA polymerase II transcription coactivator activity|translation factor activity, nucleic acid binding central_nervous_system(3) 3 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191) OV - Ovarian serous cystadenocarcinoma(76;0.132) AGCCTCTACGACGAGGTGCGG 0.711 NA 3 5 0 0 0 0 IFT172 26160 broad.mit.edu 37 2 27688750 27688750 + Splice_Site SNP C C A TCGA-CV-7263-01A-11D-2012-08 TCGA-CV-7263-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 19a07472-c8b9-4a34-b2cb-11ace35e7903 d34d6638-773d-4695-a34a-63d7f9685243 g.chr2:27688750C>A uc002rku.2 - 17 1744 c.1693_splice c.e17-1 p.G565_splice NM_015662 NP_056477 Q9UG01 IF172_HUMAN selective LIM binding factor homolog cilium assembly cilium binding large_intestine(1)|ovary(1) 2 Acute lymphoblastic leukemia(172;0.155) TAACATCACCCTGTAAAAGTT 0.507 NA 8 342 0.00307968 0.00831424 1 0 NRXN1 9378 broad.mit.edu 37 2 50149201 50149201 + Nonsense_Mutation SNP G G A TCGA-CV-7263-01A-11D-2012-08 TCGA-CV-7263-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 19a07472-c8b9-4a34-b2cb-11ace35e7903 d34d6638-773d-4695-a34a-63d7f9685243 g.chr2:50149201G>A uc010fbp.2 - 6 2017 c.1210C>T c.(1210-1212)CGA>TGA p.R404* NRXN1_uc002rxb.3_Nonsense_Mutation_p.R1138*|NRXN1_uc010fbq.2_Nonsense_Mutation_p.R1509*|NRXN1_uc002rxe.3_Nonsense_Mutation_p.R1439*|NRXN1_uc010yon.1_Nonsense_Mutation_p.R104*|NRXN1_uc002rxa.3_Nonsense_Mutation_p.R101* NM_138735 NP_620072 P58400 NRX1B_HUMAN neurexin 1 isoform beta precursor 404 Cytoplasmic (Potential). angiogenesis|neuron cell-cell adhesion|neuronal signal transduction cell surface|endocytic vesicle|integral to membrane|presynaptic membrane cell adhesion molecule binding|receptor binding p.R404L(1) ovary(2) 2 all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192) Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116) ATGTAGTTTCGACTCTCGTCC 0.478 NA 37 60 0 0 0 0 RNF103 7844 broad.mit.edu 37 2 86831161 86831161 + Missense_Mutation SNP A A C TCGA-CV-7263-01A-11D-2012-08 TCGA-CV-7263-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 19a07472-c8b9-4a34-b2cb-11ace35e7903 d34d6638-773d-4695-a34a-63d7f9685243 g.chr2:86831161A>C uc002srn.2 - 4 2832 c.1863T>G c.(1861-1863)TGT>TGG p.C621W VPS24_uc010ytl.1_Intron|RNF103_uc002srm.2_Missense_Mutation_p.C482W|uc002sro.2_RNA NM_005667 NP_005658 O00237 RN103_HUMAN ring finger protein 103 621 RING-type. C->S: Loss of E2-dependent ubiquitination. central nervous system development|ER-associated protein catabolic process endoplasmic reticulum membrane|integral to membrane protein binding|ubiquitin-protein ligase activity|zinc ion binding central_nervous_system(1) 1 GGCAAACAACACATTCAGTAC 0.423 NA 22 166 0 0 0 0 PLEKHB2 55041 broad.mit.edu 37 2 131890487 131890487 + Missense_Mutation SNP T T C TCGA-CV-7263-01A-11D-2012-08 TCGA-CV-7263-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 19a07472-c8b9-4a34-b2cb-11ace35e7903 d34d6638-773d-4695-a34a-63d7f9685243 g.chr2:131890487T>C uc002tsg.3 + 6 906 c.346T>C c.(346-348)TCT>CCT p.S116P PLEKHB2_uc002tsh.2_Missense_Mutation_p.S116P|PLEKHB2_uc002tsj.3_Missense_Mutation_p.S116P|PLEKHB2_uc002tsf.3_Missense_Mutation_p.S116P|PLEKHB2_uc010zao.1_Missense_Mutation_p.S66P|PLEKHB2_uc010zap.1_Missense_Mutation_p.S116P|PLEKHB2_uc010zaq.1_Intron|PLEKHB2_uc002tsi.3_Missense_Mutation_p.S157P NM_001100623 NP_001094093 Q96CS7 PKHB2_HUMAN pleckstrin homology domain containing, family B 116 membrane protein binding ovary(2) 2 BRCA - Breast invasive adenocarcinoma(221;0.0828) GTATGTGGGCTCTGCAGTCAT 0.572 NA 31 85 0 0 0 0 LCT 3938 broad.mit.edu 37 2 136570169 136570169 + Missense_Mutation SNP G G A TCGA-CV-7263-01A-11D-2012-08 TCGA-CV-7263-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 19a07472-c8b9-4a34-b2cb-11ace35e7903 d34d6638-773d-4695-a34a-63d7f9685243 g.chr2:136570169G>A uc002tuu.1 - 7 2076 c.2065C>T c.(2065-2067)CGC>TGC p.R689C NM_002299 NP_002290 P09848 LPH_HUMAN lactase-phlorizin hydrolase preproprotein 689 Extracellular (Potential).|4 X approximate repeats.|2. carbohydrate metabolic process|polysaccharide digestion apical plasma membrane|integral to plasma membrane|membrane fraction cation binding|glycosylceramidase activity|lactase activity ovary(7)|central_nervous_system(2)|skin(2)|pancreas(1)|lung(1) 13 BRCA - Breast invasive adenocarcinoma(221;0.169) CTGATGAGGCGGGAGGTGTAA 0.557 NA 20 55 0 0 0 0 KIF5C 3800 broad.mit.edu 37 2 149806405 149806405 + Missense_Mutation SNP A A G TCGA-CV-7263-01A-11D-2012-08 TCGA-CV-7263-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 19a07472-c8b9-4a34-b2cb-11ace35e7903 d34d6638-773d-4695-a34a-63d7f9685243 g.chr2:149806405A>G uc010zbu.1 + 9 1135 c.767A>G c.(766-768)AAT>AGT p.N256S KIF5C_uc002tws.1_RNA NM_004522 NP_004513 O60282 KIF5C_HUMAN kinesin family member 5C 256 Kinesin-motor.|Microtubule-binding. microtubule-based movement|organelle organization cytoplasm|kinesin complex|microtubule ATP binding|microtubule motor activity skin(1) 1 BRCA - Breast invasive adenocarcinoma(221;0.108) AAAAATATCAATAAGTCTTTG 0.453 NA 9 44 0 0 0 0 SP5 389058 broad.mit.edu 37 2 171573597 171573597 + Missense_Mutation SNP A A C TCGA-CV-7263-01A-11D-2012-08 TCGA-CV-7263-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 19a07472-c8b9-4a34-b2cb-11ace35e7903 d34d6638-773d-4695-a34a-63d7f9685243 g.chr2:171573597A>C uc002uge.2 + 2 1046 c.880A>C c.(880-882)AAG>CAG p.K294Q NM_001003845 NP_001003845 Q6BEB4 SP5_HUMAN Sp5 transcription factor 294 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 GGGGAAGAAGAAGCAGCACGT 0.741 NA 3 9 0 0 0 0 MAP1D 254042 broad.mit.edu 37 2 172942597 172942597 + Silent SNP T T C TCGA-CV-7263-01A-11D-2012-08 TCGA-CV-7263-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 19a07472-c8b9-4a34-b2cb-11ace35e7903 d34d6638-773d-4695-a34a-63d7f9685243 g.chr2:172942597T>C uc002uhk.2 + 7 850 c.777T>C c.(775-777)CAT>CAC p.H259H MAP1D_uc010zdw.1_Silent_p.H141H NM_199227 NP_954697 Q6UB28 AMP1D_HUMAN methionine aminopeptidase 1D precursor 259 Substrate (By similarity). N-terminal protein amino acid modification|peptidyl-methionine modification|proteolysis mitochondrion aminopeptidase activity|metal ion binding|metalloexopeptidase activity 0 OV - Ovarian serous cystadenocarcinoma(117;0.216) CTTACTTTCATGGACATCCAG 0.383 NA 22 40 0 0 0 0 AGPS 8540 broad.mit.edu 37 2 178388494 178388494 + Missense_Mutation SNP A A G TCGA-CV-7263-01A-11D-2012-08 TCGA-CV-7263-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 19a07472-c8b9-4a34-b2cb-11ace35e7903 d34d6638-773d-4695-a34a-63d7f9685243 g.chr2:178388494A>G uc002ull.2 + 19 1863 c.1816A>G c.(1816-1818)ATC>GTC p.I606V AGPS_uc010zfb.1_Missense_Mutation_p.I516V NM_003659 NP_003650 O00116 ADAS_HUMAN alkyldihydroxyacetone phosphate synthase 606 ether lipid biosynthetic process peroxisomal matrix|peroxisomal membrane|plasma membrane alkylglycerone-phosphate synthase activity|flavin adenine dinucleotide binding|oxidoreductase activity ovary(2)|central_nervous_system(1) 3 OV - Ovarian serous cystadenocarcinoma(117;0.0018)|Epithelial(96;0.00919)|all cancers(119;0.0358) TAGAGAAGAAATCCTTGCTAA 0.358 NA 18 58 0 0 0 0 NDUFS1 4719 broad.mit.edu 37 2 206988923 206988923 + Missense_Mutation SNP G G A TCGA-CV-7263-01A-11D-2012-08 TCGA-CV-7263-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 19a07472-c8b9-4a34-b2cb-11ace35e7903 d34d6638-773d-4695-a34a-63d7f9685243 g.chr2:206988923G>A uc002vbe.2 - 19 2297 c.2170C>T c.(2170-2172)CCA>TCA p.P724S NDUFS1_uc010ziq.1_Missense_Mutation_p.P738S|NDUFS1_uc010zir.1_Missense_Mutation_p.P688S|NDUFS1_uc010zis.1_Missense_Mutation_p.P667S|NDUFS1_uc010zit.1_Missense_Mutation_p.P613S|NDUFS1_uc010ziu.1_Missense_Mutation_p.P608S NM_005006 NP_004997 P28331 NDUS1_HUMAN NADH dehydrogenase (ubiquinone) Fe-S protein 1, 724 apoptosis|ATP metabolic process|mitochondrial electron transport, NADH to ubiquinone|reactive oxygen species metabolic process|regulation of mitochondrial membrane potential|transport mitochondrial intermembrane space|mitochondrial respiratory chain complex I 2 iron, 2 sulfur cluster binding|4 iron, 4 sulfur cluster binding|electron carrier activity|metal ion binding|NADH dehydrogenase (ubiquinone) activity|protein binding ovary(1) 1 NADH(DB00157) CATATGGATGGTTCCTCTACT 0.418 NA 15 46 0 0 0 0 ANKZF1 55139 broad.mit.edu 37 2 220098107 220098107 + Silent SNP C C T TCGA-CV-7263-01A-11D-2012-08 TCGA-CV-7263-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 19a07472-c8b9-4a34-b2cb-11ace35e7903 d34d6638-773d-4695-a34a-63d7f9685243 g.chr2:220098107C>T uc002vkg.2 + 7 945 c.771C>T c.(769-771)CAC>CAT p.H257H ANKZF1_uc010zkv.1_Silent_p.H201H|ANKZF1_uc010zkw.1_Silent_p.H47H|ANKZF1_uc002vkh.2_Silent_p.H47H|ANKZF1_uc002vki.2_Silent_p.H257H|ANKZF1_uc002vkj.1_Silent_p.H245H NM_018089 NP_060559 Q9H8Y5 ANKZ1_HUMAN ankyrin repeat and zinc finger domain containing 257 intracellular zinc ion binding ovary(2) 2 Renal(207;0.0474) Epithelial(149;1.2e-06)|all cancers(144;0.000197)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) GGCCATCACACTCTGCTGGAG 0.522 NA 17 52 0 0 0 0 ALPPL2 251 broad.mit.edu 37 2 233272011 233272011 + Missense_Mutation SNP C C T TCGA-CV-7263-01A-11D-2012-08 TCGA-CV-7263-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 19a07472-c8b9-4a34-b2cb-11ace35e7903 d34d6638-773d-4695-a34a-63d7f9685243 g.chr2:233272011C>T uc002vss.3 + 3 253 c.200C>T c.(199-201)ACG>ATG p.T67M NM_031313 NP_112603 P10696 PPBN_HUMAN placental-like alkaline phosphatase 67 phosphorylation anchored to membrane|plasma membrane alkaline phosphatase activity|metal ion binding skin(1) 1 all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132) Epithelial(121;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196) Amifostine(DB01143)|Levamisole(DB00848) GGGGTGTCTACGGTGACAGCT 0.627 NA 22 59 0 0 0 0 C20orf54 113278 broad.mit.edu 37 20 744241 744241 + Missense_Mutation SNP G G A TCGA-CV-7263-01A-11D-2012-08 TCGA-CV-7263-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 19a07472-c8b9-4a34-b2cb-11ace35e7903 d34d6638-773d-4695-a34a-63d7f9685243 g.chr20:744241G>A uc002wed.3 - 3 1313 c.974C>T c.(973-975)TCC>TTC p.S325F C20orf54_uc002wee.2_Missense_Mutation_p.S325F NM_033409 NP_212134 Q9NQ40 RFT2_HUMAN hypothetical protein LOC113278 precursor 325 sensory perception of sound integral to plasma membrane riboflavin transporter activity ovary(2) 2 GGACAGGCAGGAGTAGGTCTG 0.627 NA 22 118 0 0 0 0 BMP2 650 broad.mit.edu 37 20 6759194 6759194 + Missense_Mutation SNP A A G TCGA-CV-7263-01A-11D-2012-08 TCGA-CV-7263-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 19a07472-c8b9-4a34-b2cb-11ace35e7903 d34d6638-773d-4695-a34a-63d7f9685243 g.chr20:6759194A>G uc002wmu.1 + 3 1434 c.649A>G c.(649-651)ACT>GCT p.T217A NM_001200 NP_001191 P12643 BMP2_HUMAN bone morphogenetic protein 2 preproprotein 217 BMP signaling pathway involved in heart induction|bone mineralization involved in bone maturation|cardiac cell differentiation|cardiac epithelial to mesenchymal transition|cartilage development|growth|negative regulation of cell cycle|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|osteoblast differentiation|pathway-restricted SMAD protein phosphorylation|positive regulation of apoptosis|positive regulation of bone mineralization|positive regulation of cartilage development|positive regulation of endothelial cell proliferation|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of phosphatase activity|positive regulation of transcription from RNA polymerase II promoter|SMAD protein signal transduction extracellular space activin receptor activity, type II|BMP receptor binding|cytokine activity|growth factor activity|phosphatase activator activity|protein heterodimerization activity|SMAD binding|transforming growth factor beta receptor binding ovary(1)|breast(1) 2 Simvastatin(DB00641) GATGCGGTGGACTGCACAGGG 0.522 NA 4 49 0 0 0 0 RIMS4 140730 broad.mit.edu 37 20 43385559 43385559 + Missense_Mutation SNP G G A TCGA-CV-7263-01A-11D-2012-08 TCGA-CV-7263-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 19a07472-c8b9-4a34-b2cb-11ace35e7903 d34d6638-773d-4695-a34a-63d7f9685243 g.chr20:43385559G>A uc002xms.2 - 5 571 c.571C>T c.(571-573)CCC>TCC p.P191S RIMS4_uc010ggu.2_Missense_Mutation_p.P192S NM_182970 NP_892015 Q9H426 RIMS4_HUMAN regulating synaptic membrane exocytosis 4 191 C2. exocytosis|neurotransmitter transport cell junction|synapse ovary(4)|central_nervous_system(1) 5 Myeloproliferative disorder(115;0.0122) TTGCCCTGGGGACTCTCAGGA 0.567 NA 139 217 0 0 0 0 ZDHHC8 29801 broad.mit.edu 37 22 20127348 20127348 + Missense_Mutation SNP G G A TCGA-CV-7263-01A-11D-2012-08 TCGA-CV-7263-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 19a07472-c8b9-4a34-b2cb-11ace35e7903 d34d6638-773d-4695-a34a-63d7f9685243 g.chr22:20127348G>A uc002zrq.2 + 4 596 c.490G>A c.(490-492)GTG>ATG p.V164M ZDHHC8_uc002zrr.1_Missense_Mutation_p.V164M|ZDHHC8_uc010gsa.2_Intron NM_013373 NP_037505 Q9ULC8 ZDHC8_HUMAN zinc finger, DHHC domain containing 8 164 Helical; (Potential). cytoplasmic vesicle membrane|integral to membrane acyltransferase activity|zinc ion binding ovary(1)|central_nervous_system(1) 2 Colorectal(54;0.0993) GGTGGGCGTCGTGGCCTTCGG 0.602 NA 8 60 0 0 0 0 PIK3IP1 113791 broad.mit.edu 37 22 31688261 31688261 + Missense_Mutation SNP C C T TCGA-CV-7263-01A-11D-2012-08 TCGA-CV-7263-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 19a07472-c8b9-4a34-b2cb-11ace35e7903 d34d6638-773d-4695-a34a-63d7f9685243 g.chr22:31688261C>T uc003akm.2 - 1 260 c.70G>A c.(70-72)GGC>AGC p.G24S PIK3IP1_uc003akl.2_5'Flank|PIK3IP1_uc011alo.1_Missense_Mutation_p.G24S|PIK3IP1_uc003akn.2_Silent_p.E4E|PIK3IP1_uc003ako.2_Missense_Mutation_p.G24S NM_052880 NP_443112 Q96FE7 P3IP1_HUMAN HGFL protein isoform 1 24 Extracellular (Potential).|Kringle. integral to membrane ovary(1) 1 GTAATCTCACCTCCAGATCCA 0.502 NA OREG0026478 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 23 56 0 0 0 0 C22orf42 150297 broad.mit.edu 37 22 32545757 32545757 + Missense_Mutation SNP C C T TCGA-CV-7263-01A-11D-2012-08 TCGA-CV-7263-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 19a07472-c8b9-4a34-b2cb-11ace35e7903 d34d6638-773d-4695-a34a-63d7f9685243 g.chr22:32545757C>T uc003amd.2 - 8 706 c.665G>A c.(664-666)AGA>AAA p.R222K NM_001010859 NP_001010859 Q6IC83 CV042_HUMAN chromosome 22 open reading frame 42 222 ovary(1)|skin(1) 2 ATCTTCATATCTCTCCTTTGC 0.279 NA 9 48 0 0 0 0 SELO 83642 broad.mit.edu 37 22 50654274 50654274 + Missense_Mutation SNP T T C TCGA-CV-7263-01A-11D-2012-08 TCGA-CV-7263-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 19a07472-c8b9-4a34-b2cb-11ace35e7903 d34d6638-773d-4695-a34a-63d7f9685243 g.chr22:50654274T>C uc011arr.1 + 6 1538 c.1480T>C c.(1480-1482)TTC>CTC p.F494L SELO_uc010hap.2_Missense_Mutation_p.F305L|SELO_uc003bjy.2_Missense_Mutation_p.F174L|SELO_uc003bjz.2_Missense_Mutation_p.L246P NM_031454 NP_113642 Q9BVL4 SELO_HUMAN selenoprotein O 494 0 all_cancers(38;1.14e-10)|all_epithelial(38;2.12e-09)|all_lung(38;7.01e-05)|Breast(42;0.000523)|Lung NSC(38;0.0018)|Ovarian(80;0.0365)|Lung SC(80;0.113) LUAD - Lung adenocarcinoma(64;0.105) GAGGCTGGCCTTCCGGCCCCA 0.582 NA 19 58 0 0 0 0 CSPG5 10675 broad.mit.edu 37 3 47618893 47618893 + Missense_Mutation SNP A A T TCGA-CV-7263-01A-11D-2012-08 TCGA-CV-7263-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 19a07472-c8b9-4a34-b2cb-11ace35e7903 d34d6638-773d-4695-a34a-63d7f9685243 g.chr3:47618893A>T uc003crp.3 - 2 799 c.623T>A c.(622-624)ATT>AAT p.I208N CSPG5_uc003crn.2_Missense_Mutation_p.I70N|CSPG5_uc003cro.3_Missense_Mutation_p.I208N|CSPG5_uc011bbb.1_Missense_Mutation_p.I70N NM_006574 NP_006565 O95196 CSPG5_HUMAN chondroitin sulfate proteoglycan 5 (neuroglycan 208 Extracellular (Potential). cell differentiation|intracellular transport|nervous system development|regulation of growth endoplasmic reticulum membrane|Golgi-associated vesicle membrane|integral to plasma membrane|membrane fraction growth factor activity ovary(1)|central_nervous_system(1) 2 BRCA - Breast invasive adenocarcinoma(193;0.000266)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621) GTCGATGTCAATGATATCTGA 0.587 NA 13 24 0 0 0 0 MST1R 4486 broad.mit.edu 37 3 49933239 49933239 + Silent SNP C C T TCGA-CV-7263-01A-11D-2012-08 TCGA-CV-7263-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 19a07472-c8b9-4a34-b2cb-11ace35e7903 d34d6638-773d-4695-a34a-63d7f9685243 g.chr3:49933239C>T uc003cxy.3 - 12 3135 c.2871G>A c.(2869-2871)ACG>ACA p.T957T MST1R_uc011bdc.1_5'UTR NM_002447 NP_002438 Q04912 RON_HUMAN macrophage stimulating 1 receptor precursor 957 Extracellular (Potential). cellular component movement|defense response|multicellular organismal development|positive regulation of cell proliferation|single fertilization|transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|macrophage colony-stimulating factor receptor activity|protein binding ovary(5)|lung(1) 6 BRCA - Breast invasive adenocarcinoma(193;4.65e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00553)|Kidney(197;0.00625) TACCAAGGAGCGTGCTCTGTG 0.607 NA 6 46 0 0 0 0 PHLDB2 90102 broad.mit.edu 37 3 111686631 111686631 + Missense_Mutation SNP T T A TCGA-CV-7263-01A-11D-2012-08 TCGA-CV-7263-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 19a07472-c8b9-4a34-b2cb-11ace35e7903 d34d6638-773d-4695-a34a-63d7f9685243 g.chr3:111686631T>A uc010hqa.2 + 15 3686 c.3275T>A c.(3274-3276)ATA>AAA p.I1092K PHLDB2_uc003dyc.2_Missense_Mutation_p.I1076K|PHLDB2_uc003dyd.2_Missense_Mutation_p.I1049K|PHLDB2_uc003dyg.2_Missense_Mutation_p.I1092K|PHLDB2_uc003dyh.2_Missense_Mutation_p.I1049K|PHLDB2_uc003dyi.2_Missense_Mutation_p.I583K|PHLDB2_uc003dyj.2_Missense_Mutation_p.I147K NM_001134438 NP_001127910 Q86SQ0 PHLB2_HUMAN pleckstrin homology-like domain, family B, 1092 Potential. cytoplasm|intermediate filament cytoskeleton|plasma membrane ovary(4)|skin(2) 6 CAGAAGTTAATAGAAAAGGAA 0.468 NA OREG0015707 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 7 29 0 0 0 0 PLXNA1 5361 broad.mit.edu 37 3 126752808 126752808 + Missense_Mutation SNP G G A TCGA-CV-7263-01A-11D-2012-08 TCGA-CV-7263-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 19a07472-c8b9-4a34-b2cb-11ace35e7903 d34d6638-773d-4695-a34a-63d7f9685243 g.chr3:126752808G>A uc003ejg.2 + 31 5574 c.5570G>A c.(5569-5571)CGG>CAG p.R1857Q PLXNA1_uc003ejh.2_Missense_Mutation_p.R525Q NM_032242 NP_115618 Q9UIW2 PLXA1_HUMAN plexin A1 1880 Cytoplasmic (Potential). axon guidance integral to membrane|intracellular|plasma membrane semaphorin receptor activity ovary(1)|pancreas(1)|skin(1) 3 GBM - Glioblastoma multiforme(114;0.155) CGGCGGCAGCGGCTGCGGAGC 0.652 NA 4 16 0 0 0 0 ZNF595 152687 broad.mit.edu 37 4 86195 86195 + Missense_Mutation SNP G G C TCGA-CV-7263-01A-11D-2012-08 TCGA-CV-7263-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 19a07472-c8b9-4a34-b2cb-11ace35e7903 d34d6638-773d-4695-a34a-63d7f9685243 g.chr4:86195G>C uc003fzv.1 + 6 957 c.801G>C c.(799-801)AGG>AGC p.R267S ZNF595_uc003fzu.1_Intron|ZNF718_uc003fzt.3_Intron|ZNF595_uc011bus.1_Missense_Mutation_p.R35S|ZNF595_uc011but.1_Missense_Mutation_p.R35S NM_182524 NP_872330 Q7Z3I0 Q7Z3I0_HUMAN zinc finger protein 595 267 regulation of transcription, DNA-dependent intracellular nucleic acid binding|zinc ion binding 0 all_cancers(4;0.0738)|all_epithelial(65;0.139) Lung(54;0.0654)|Epithelial(2;0.0921)|all cancers(2;0.146)|LUSC - Lung squamous cell carcinoma(95;0.173) CCTTTACAAGGTCCACAACAC 0.408 NA 40 21 0 0 0 0 TACC3 10460 broad.mit.edu 37 4 1746264 1746264 + Missense_Mutation SNP A A G TCGA-CV-7263-01A-11D-2012-08 TCGA-CV-7263-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 19a07472-c8b9-4a34-b2cb-11ace35e7903 d34d6638-773d-4695-a34a-63d7f9685243 g.chr4:1746264A>G uc003gdo.2 + 14 2351 c.2243A>G c.(2242-2244)AAG>AGG p.K748R TACC3_uc003gdp.2_Missense_Mutation_p.K388R|TACC3_uc010ica.2_Missense_Mutation_p.K169R NM_006342 NP_006333 Q9Y6A5 TACC3_HUMAN transforming, acidic coiled-coil containing 748 Potential. centrosome ovary(1)|central_nervous_system(1) 2 Breast(71;0.212)|all_epithelial(65;0.241) OV - Ovarian serous cystadenocarcinoma(23;0.00765)|Epithelial(3;0.0126) TCACTGAAGAAGTGCGTGGAG 0.612 NA 41 21 0 0 0 0 RBPJ 3516 broad.mit.edu 37 4 26407892 26407892 + Missense_Mutation SNP G G A TCGA-CV-7263-01A-11D-2012-08 TCGA-CV-7263-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 19a07472-c8b9-4a34-b2cb-11ace35e7903 d34d6638-773d-4695-a34a-63d7f9685243 g.chr4:26407892G>A uc003grx.1 + 4 430 c.194G>A c.(193-195)AGG>AAG p.R65K RBPJ_uc003gry.1_Missense_Mutation_p.R50K|RBPJ_uc003grz.1_Missense_Mutation_p.R65K|RBPJ_uc011bxt.1_Missense_Mutation_p.R65K|RBPJ_uc003gsa.1_Missense_Mutation_p.R51K|RBPJ_uc003gsb.1_Missense_Mutation_p.R52K|RBPJ_uc003gsc.1_Missense_Mutation_p.R51K NM_005349 NP_005340 Q06330 SUH_HUMAN recombining binding protein suppressor of 65 DNA recombination|negative regulation of transcription, DNA-dependent|positive regulation of transcription of Notch receptor target cytoplasm|nucleolus|nucleoplasm DNA binding|protein binding|recombinase activity|sequence-specific DNA binding transcription factor activity ovary(1)|lung(1)|central_nervous_system(1) 3 Breast(46;0.0503) AATGAAAAAAGGTAAGATTAT 0.333 NA 56 37 0 0 0 0 UGT2B11 10720 broad.mit.edu 37 4 70080272 70080272 + Missense_Mutation SNP C C G TCGA-CV-7263-01A-11D-2012-08 TCGA-CV-7263-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 19a07472-c8b9-4a34-b2cb-11ace35e7903 d34d6638-773d-4695-a34a-63d7f9685243 g.chr4:70080272C>G uc003heh.2 - 1 178 c.169G>C c.(169-171)GCA>CCA p.A57P uc003hei.1_RNA NM_001073 NP_001064 O75310 UDB11_HUMAN UDP glucuronosyltransferase 2 family, 57 estrogen metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome glucuronosyltransferase activity ovary(1)|haematopoietic_and_lymphoid_tissue(1)|skin(1) 3 GCTGAAGATGCCAGTACAGTC 0.393 NA 17 214 0 0 0 0 RXFP1 59350 broad.mit.edu 37 4 159573014 159573014 + Missense_Mutation SNP G G A TCGA-CV-7263-01A-11D-2012-08 TCGA-CV-7263-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 19a07472-c8b9-4a34-b2cb-11ace35e7903 d34d6638-773d-4695-a34a-63d7f9685243 g.chr4:159573014G>A uc003ipz.2 + 18 2163 c.2081G>A c.(2080-2082)CGG>CAG p.R694Q RXFP1_uc011cja.1_Missense_Mutation_p.R589Q|RXFP1_uc010iqo.2_Missense_Mutation_p.R646Q|RXFP1_uc011cjb.1_Missense_Mutation_p.R592Q|RXFP1_uc010iqk.2_Missense_Mutation_p.R562Q|RXFP1_uc011cjc.1_Missense_Mutation_p.R613Q|RXFP1_uc011cjd.1_Missense_Mutation_p.R613Q|RXFP1_uc010iql.2_Missense_Mutation_p.R538Q|RXFP1_uc011cje.1_Missense_Mutation_p.R721Q|RXFP1_uc010iqm.2_Missense_Mutation_p.R661Q|RXFP1_uc011cjf.1_Missense_Mutation_p.R563Q|RXFP1_uc010iqn.2_Missense_Mutation_p.R639Q NM_021634 NP_067647 Q9HBX9 RXFP1_HUMAN relaxin/insulin-like family peptide receptor 1 694 Cytoplasmic (Potential). integral to membrane|plasma membrane G-protein coupled receptor activity|metal ion binding 0 all_hematologic(180;0.24) Renal(120;0.0854) COAD - Colon adenocarcinoma(41;0.0219) ATGATTCATCGGTTTTGGTAT 0.393 NA 21 54 0 0 0 0 FAT1 2195 broad.mit.edu 37 4 187540845 187540845 + Nonsense_Mutation SNP C C A TCGA-CV-7263-01A-11D-2012-08 TCGA-CV-7263-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 19a07472-c8b9-4a34-b2cb-11ace35e7903 d34d6638-773d-4695-a34a-63d7f9685243 g.chr4:187540845C>A uc003izf.2 - 10 7083 c.6895G>T c.(6895-6897)GGA>TGA p.G2299* NM_005245 NP_005236 Q14517 FAT1_HUMAN FAT tumor suppressor 1 precursor 2299 Extracellular (Potential).|Cadherin 21. actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm calcium ion binding|protein binding ovary(10)|central_nervous_system(1)|pancreas(1) 12 ACAGACGTTCCAATTACAGAT 0.433 NA HNSCC(5;0.00058) 82 54 1.16e-35 3.36e-35 1 0 DNAH5 1767 broad.mit.edu 37 5 13817734 13817734 + Missense_Mutation SNP C C T TCGA-CV-7263-01A-11D-2012-08 TCGA-CV-7263-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 19a07472-c8b9-4a34-b2cb-11ace35e7903 d34d6638-773d-4695-a34a-63d7f9685243 g.chr5:13817734C>T uc003jfd.2 - 42 6953 c.6911G>A c.(6910-6912)CGG>CAG p.R2304Q NM_001369 NP_001360 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 2304 AAA 2 (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) AACGTCCAGCCGACCAAACAT 0.403 NA Kartagener_syndrome 27 48 0 0 0 0 MYO10 4651 broad.mit.edu 37 5 16682073 16682073 + Missense_Mutation SNP C C T TCGA-CV-7263-01A-11D-2012-08 TCGA-CV-7263-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 19a07472-c8b9-4a34-b2cb-11ace35e7903 d34d6638-773d-4695-a34a-63d7f9685243 g.chr5:16682073C>T uc003jft.3 - 31 4564 c.4096G>A c.(4096-4098)GCC>ACC p.A1366T MYO10_uc011cnb.1_5'UTR|MYO10_uc011cnc.1_Missense_Mutation_p.A245T|MYO10_uc011cnd.1_Missense_Mutation_p.A723T|MYO10_uc011cne.1_Missense_Mutation_p.A723T|MYO10_uc010itx.2_Missense_Mutation_p.A988T NM_012334 NP_036466 Q9HD67 MYO10_HUMAN myosin X 1366 axon guidance|signal transduction myosin complex actin binding|ATP binding|motor activity ovary(2)|pancreas(1) 3 GGCGTGTCGGCGTTGCAGTGC 0.577 NA 22 110 0 0 0 0 MCCC2 64087 broad.mit.edu 37 5 70927976 70927976 + Missense_Mutation SNP C C T TCGA-CV-7263-01A-11D-2012-08 TCGA-CV-7263-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 19a07472-c8b9-4a34-b2cb-11ace35e7903 d34d6638-773d-4695-a34a-63d7f9685243 g.chr5:70927976C>T uc003kbs.3 + 8 905 c.767C>T c.(766-768)TCT>TTT p.S256F MCCC2_uc010iyv.1_Missense_Mutation_p.S256F|MCCC2_uc003kbt.3_RNA|MCCC2_uc003kbu.1_Missense_Mutation_p.S125F NM_022132 NP_071415 Q9HCC0 MCCB_HUMAN methylcrotonoyl-Coenzyme A carboxylase 2 (beta) 256 Carboxyltransferase. leucine catabolic process mitochondrial inner membrane|mitochondrial matrix ATP binding|methylcrotonoyl-CoA carboxylase activity ovary(1) 1 Lung NSC(167;0.000697)|Prostate(74;0.0107)|Ovarian(174;0.0175)|Breast(144;0.198) OV - Ovarian serous cystadenocarcinoma(47;2.04e-54) Biotin(DB00121) GAAGAAGTATCTGCTGAGGAT 0.398 NA 18 70 0 0 0 0 PRPF4B 8899 broad.mit.edu 37 6 4052307 4052307 + Missense_Mutation SNP G G A TCGA-CV-7263-01A-11D-2012-08 TCGA-CV-7263-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 19a07472-c8b9-4a34-b2cb-11ace35e7903 d34d6638-773d-4695-a34a-63d7f9685243 g.chr6:4052307G>A uc003mvv.2 + 10 2382 c.2291G>A c.(2290-2292)TGT>TAT p.C764Y PRPF4B_uc003mvw.2_RNA|C6orf146_uc010jnq.1_Intron|PRPF4B_uc011dhv.1_RNA NM_003913 NP_003904 Q13523 PRP4B_HUMAN serine/threonine-protein kinase PRP4K 764 Protein kinase. catalytic step 2 spliceosome ATP binding|protein binding|protein serine/threonine kinase activity breast(5) 5 Ovarian(93;0.0925) all_hematologic(90;0.0895) CAGCATCTTTGTCTGGTATTC 0.353 NA 20 38 0 0 0 0 HIST1H4B 8366 broad.mit.edu 37 6 26027417 26027417 + Missense_Mutation SNP C C T TCGA-CV-7263-01A-11D-2012-08 TCGA-CV-7263-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 19a07472-c8b9-4a34-b2cb-11ace35e7903 d34d6638-773d-4695-a34a-63d7f9685243 g.chr6:26027417C>T uc003nfr.2 - 1 64 c.64G>A c.(64-66)GTG>ATG p.V22M NM_003544 NP_003535 P62805 H4_HUMAN histone cluster 1, H4b 22 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 TCCCGCAGCACTTTTCGGTGA 0.532 NA 10 64 0 0 0 0 HIST1H3I 8354 broad.mit.edu 37 6 27839984 27839984 + Missense_Mutation SNP T T A TCGA-CV-7263-01A-11D-2012-08 TCGA-CV-7263-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 19a07472-c8b9-4a34-b2cb-11ace35e7903 d34d6638-773d-4695-a34a-63d7f9685243 g.chr6:27839984T>A uc003njy.2 - 1 116 c.110A>T c.(109-111)AAG>ATG p.K37M NM_003533 NP_003524 P68431 H31_HUMAN histone cluster 1, H3i 37 blood coagulation|nucleosome assembly|regulation of gene silencing|S phase nucleoplasm|nucleosome DNA binding|protein binding ovary(1) 1 GTGGGGCTTCTTGACGCCACC 0.672 NA 16 68 0 0 0 0 MAPK13 5603 broad.mit.edu 37 6 36106785 36106785 + Missense_Mutation SNP T T C TCGA-CV-7263-01A-11D-2012-08 TCGA-CV-7263-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 19a07472-c8b9-4a34-b2cb-11ace35e7903 d34d6638-773d-4695-a34a-63d7f9685243 g.chr6:36106785T>C uc003ols.2 + 11 1069 c.971T>C c.(970-972)TTT>TCT p.F324S MAPK13_uc003olt.2_RNA NM_002754 NP_002745 O15264 MK13_HUMAN mitogen-activated protein kinase 13 324 cell cycle|intracellular protein kinase cascade|nerve growth factor receptor signaling pathway|positive regulation of interleukin-6 production|Ras protein signal transduction|response to stress ATP binding|MAP kinase activity|protein binding breast(2)|central_nervous_system(1) 3 CAGCAGCCGTTTGATGATTCC 0.602 NA 15 39 0 0 0 0 NR2E1 7101 broad.mit.edu 37 6 108502785 108502785 + Missense_Mutation SNP C C T TCGA-CV-7263-01A-11D-2012-08 TCGA-CV-7263-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 19a07472-c8b9-4a34-b2cb-11ace35e7903 d34d6638-773d-4695-a34a-63d7f9685243 g.chr6:108502785C>T uc003psg.2 + 8 1680 c.925C>T c.(925-927)CGG>TGG p.R309W NM_003269 NP_003260 Q9Y466 NR2E1_HUMAN nuclear receptor subfamily 2, group E, member 1 309 Ligand-binding (By similarity). regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm sequence-specific DNA binding|steroid hormone receptor activity|zinc ion binding central_nervous_system(1)|skin(1) 2 all_cancers(87;8.13e-05)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00866)|Colorectal(196;0.0637) BRCA - Breast invasive adenocarcinoma(108;0.013)|Epithelial(106;0.0521)|all cancers(137;0.068)|OV - Ovarian serous cystadenocarcinoma(136;0.0689) GAGAAGTTTCCGGAATGCTGC 0.438 NA 16 60 0 0 0 0 PDE10A 10846 broad.mit.edu 37 6 165806230 165806230 + Missense_Mutation SNP G G A TCGA-CV-7263-01A-11D-2012-08 TCGA-CV-7263-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 19a07472-c8b9-4a34-b2cb-11ace35e7903 d34d6638-773d-4695-a34a-63d7f9685243 g.chr6:165806230G>A uc003qun.2 - 17 1772 c.1531C>T c.(1531-1533)CGG>TGG p.R511W PDE10A_uc011egj.1_RNA|PDE10A_uc011egk.1_Missense_Mutation_p.R441W|PDE10A_uc003quo.2_Missense_Mutation_p.R521W NM_006661 NP_006652 Q9Y233 PDE10_HUMAN phosphodiesterase 10A isoform 2 511 platelet activation|signal transduction cytosol 3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cAMP binding|cGMP binding|metal ion binding ovary(3)|skin(2) 5 Breast(66;0.000425)|Prostate(117;0.104)|Ovarian(120;0.221) OV - Ovarian serous cystadenocarcinoma(33;1.5e-17)|BRCA - Breast invasive adenocarcinoma(81;1.8e-06)|GBM - Glioblastoma multiforme(31;1.92e-05) Dipyridamole(DB00975) TAAGGAACCCGCCGATAGTTC 0.428 NA 6 41 0 0 0 0 ZFAND2A 90637 broad.mit.edu 37 7 1197817 1197817 + Missense_Mutation SNP G G A TCGA-CV-7263-01A-11D-2012-08 TCGA-CV-7263-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 19a07472-c8b9-4a34-b2cb-11ace35e7903 d34d6638-773d-4695-a34a-63d7f9685243 g.chr7:1197817G>A uc003skc.2 - 2 333 c.32C>T c.(31-33)TCA>TTA p.S11L ZFAND2A_uc003skd.3_Missense_Mutation_p.S11L|uc003skf.1_5'Flank NM_182491 NP_872297 Q8N6M9 ZFN2A_HUMAN zinc finger, AN1-type domain 2A 11 AN1-type 1. cytoplasm|nucleus zinc ion binding ovary(1) 1 Ovarian(82;0.11) UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;1.82e-15) AGTCTTTTCTGAACAATGCTT 0.398 NA 8 398 0 0 0 0 ZNF12 7559 broad.mit.edu 37 7 6731206 6731206 + Missense_Mutation SNP T T C TCGA-CV-7263-01A-11D-2012-08 TCGA-CV-7263-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 19a07472-c8b9-4a34-b2cb-11ace35e7903 d34d6638-773d-4695-a34a-63d7f9685243 g.chr7:6731206T>C uc003sqt.1 - 5 1921 c.1367A>G c.(1366-1368)TAT>TGT p.Y456C ZNF12_uc011jxa.1_Missense_Mutation_p.Y294C|ZNF12_uc003sqs.1_Missense_Mutation_p.Y418C NM_016265 NP_057349 P17014 ZNF12_HUMAN zinc finger protein 12 isoform a 456 C2H2-type 7. negative regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 Ovarian(82;0.0776) UCEC - Uterine corpus endometrioid carcinoma (126;0.0231) ATGAGTTCTATAATGTACAGT 0.433 NA 17 49 0 0 0 0 HOXA11 3207 broad.mit.edu 37 7 27224479 27224479 + Missense_Mutation SNP C C A TCGA-CV-7263-01A-11D-2012-08 TCGA-CV-7263-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 19a07472-c8b9-4a34-b2cb-11ace35e7903 d34d6638-773d-4695-a34a-63d7f9685243 g.chr7:27224479C>A uc003syx.2 - 1 357 c.285G>T c.(283-285)CAG>CAT p.Q95H HOXA11_uc003syy.2_RNA|HOXA11AS_uc003syz.1_5'Flank NM_005523 NP_005514 P31270 HXA11_HUMAN homeobox A11 95 branching involved in ureteric bud morphogenesis|cartilage development involved in endochondral bone morphogenesis|developmental growth|dorsal/ventral pattern formation|mesodermal cell fate specification|positive regulation of cell development|positive regulation of chondrocyte differentiation protein-DNA complex|transcription factor complex sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity lung(1)|breast(1) 2 CGCTGGGCGCCTGCAGGCAGT 0.657 NA T NUP98 CML 15 54 6.72e-11 1.9e-10 1 0 PCLO 27445 broad.mit.edu 37 7 82585666 82585666 + Missense_Mutation SNP A A G TCGA-CV-7263-01A-11D-2012-08 TCGA-CV-7263-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 19a07472-c8b9-4a34-b2cb-11ace35e7903 d34d6638-773d-4695-a34a-63d7f9685243 g.chr7:82585666A>G uc003uhx.2 - 5 4892 c.4603T>C c.(4603-4605)TCA>CCA p.S1535P PCLO_uc003uhv.2_Missense_Mutation_p.S1535P NM_033026 NP_149015 Q9Y6V0 PCLO_HUMAN piccolo isoform 1 1466 cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity ovary(7) 7 CTGCTTGATGAGCCAACACTA 0.403 NA 6 83 0 0 0 0 ZNF804B 219578 broad.mit.edu 37 7 88964789 88964789 + Silent SNP C C T TCGA-CV-7263-01A-11D-2012-08 TCGA-CV-7263-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 19a07472-c8b9-4a34-b2cb-11ace35e7903 d34d6638-773d-4695-a34a-63d7f9685243 g.chr7:88964789C>T uc011khi.1 + 4 3031 c.2493C>T c.(2491-2493)AAC>AAT p.N831N NM_181646 NP_857597 A4D1E1 Z804B_HUMAN zinc finger protein 804B 831 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) GTGATTCTAACTCACAGATTT 0.373 NA HNSCC(36;0.09) 14 43 0 0 0 0 MUC17 140453 broad.mit.edu 37 7 100678303 100678303 + Silent SNP A A C rs140408252 TCGA-CV-7263-01A-11D-2012-08 TCGA-CV-7263-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 19a07472-c8b9-4a34-b2cb-11ace35e7903 d34d6638-773d-4695-a34a-63d7f9685243 g.chr7:100678303A>C uc003uxp.1 + 3 3659 c.3606A>C c.(3604-3606)CCA>CCC p.P1202P MUC17_uc010lho.1_RNA NM_001040105 NP_001035194 Q685J3 MUC17_HUMAN mucin 17 precursor 1202 Extracellular (Potential).|Ser-rich.|18.|59 X approximate tandem repeats. extracellular region|integral to membrane|plasma membrane extracellular matrix constituent, lubricant activity ovary(14)|skin(8)|breast(3)|lung(2) 27 Lung NSC(181;0.136)|all_lung(186;0.182) CACCTCCTCCAACTGCTGAAG 0.522 NA 56 613 0 0 0 0 FBXL13 222235 broad.mit.edu 37 7 102453908 102453908 + Missense_Mutation SNP A A G TCGA-CV-7263-01A-11D-2012-08 TCGA-CV-7263-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 19a07472-c8b9-4a34-b2cb-11ace35e7903 d34d6638-773d-4695-a34a-63d7f9685243 g.chr7:102453908A>G uc003vaq.2 - 20 2516 c.2089T>C c.(2089-2091)TTT>CTT p.F697L FBXL13_uc010liq.1_Missense_Mutation_p.F230L|FBXL13_uc010lir.1_Missense_Mutation_p.F652L|FBXL13_uc003var.2_RNA|FBXL13_uc003vas.2_Missense_Mutation_p.F669L|FAM185A_uc011klh.1_Intron NM_145032 NP_659469 Q8NEE6 FXL13_HUMAN F-box and leucine-rich repeat protein 13 isoform 697 0 TCATAGCCAAACCAACGTGGA 0.408 NA 12 117 0 0 0 0 ST7 7982 broad.mit.edu 37 7 116869938 116869938 + Missense_Mutation SNP A A C TCGA-CV-7263-01A-11D-2012-08 TCGA-CV-7263-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 19a07472-c8b9-4a34-b2cb-11ace35e7903 d34d6638-773d-4695-a34a-63d7f9685243 g.chr7:116869938A>C uc011knn.1 + 14 1470 c.1465A>C c.(1465-1467)ACC>CCC p.T489P ST7_uc003vio.2_3'UTR|ST7_uc003viq.2_3'UTR|ST7_uc011knm.1_3'UTR|ST7_uc003vir.2_3'UTR NM_021908 NP_068708 Q9NRC1 ST7_HUMAN suppression of tumorigenicity 7 isoform b Error:Variant_position_missing_in_Q9NRC1_after_alignment integral to membrane binding central_nervous_system(1)|skin(1) 2 all_cancers(3;3.88e-07)|all_epithelial(6;3.42e-07)|Lung NSC(10;0.00072)|all_lung(10;0.000847) STAD - Stomach adenocarcinoma(10;0.000512) LUSC - Lung squamous cell carcinoma(290;0.133) CACTCACCTCACCCGCCGCTG 0.507 NA 11 26 0 0 0 0 ABP1 26 broad.mit.edu 37 7 150556008 150556008 + Silent SNP C C T TCGA-CV-7263-01A-11D-2012-08 TCGA-CV-7263-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 19a07472-c8b9-4a34-b2cb-11ace35e7903 d34d6638-773d-4695-a34a-63d7f9685243 g.chr7:150556008C>T uc003why.1 + 4 5946 c.1728C>T c.(1726-1728)TAC>TAT p.Y576Y ABP1_uc003whz.1_Silent_p.Y576Y|ABP1_uc003wia.1_Silent_p.Y576Y NM_001091 NP_001082 P19801 ABP1_HUMAN amiloride binding protein 1 precursor 576 amine metabolic process extracellular space|peroxisome copper ion binding|diamine oxidase activity|heparin binding|histamine oxidase activity|methylputrescine oxidase activity|primary amine oxidase activity|propane-1,3-diamine oxidase activity|quinone binding ovary(2)|breast(2)|skin(2) 6 all_neural(206;0.219) OV - Ovarian serous cystadenocarcinoma(82;0.0121) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) Amiloride(DB00594)|Spermine(DB00127) TGCCTAAGTACCTGCTCTTTA 0.652 NA 5 36 0 0 0 0 DPP6 1804 broad.mit.edu 37 7 154172049 154172049 + Missense_Mutation SNP G G T TCGA-CV-7263-01A-11D-2012-08 TCGA-CV-7263-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 19a07472-c8b9-4a34-b2cb-11ace35e7903 d34d6638-773d-4695-a34a-63d7f9685243 g.chr7:154172049G>T uc003wlk.2 + 3 513 c.384G>T c.(382-384)AAG>AAT p.K128N DPP6_uc003wli.2_Missense_Mutation_p.K64N|DPP6_uc003wlj.2_Missense_Mutation_p.K128N|DPP6_uc010lqh.1_Missense_Mutation_p.K66N|DPP6_uc003wlm.2_Missense_Mutation_p.K66N|DPP6_uc011kvq.1_Missense_Mutation_p.K66N NM_130797 NP_570629 P42658 DPP6_HUMAN dipeptidyl-peptidase 6 isoform 1 128 Extracellular (Potential). cell death|proteolysis integral to membrane dipeptidyl-peptidase activity|serine-type peptidase activity pancreas(3)|breast(1) 4 all_neural(206;0.181) all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204) OV - Ovarian serous cystadenocarcinoma(82;0.0562) TGTCTCAAAAGAAGAAGGTCA 0.378 NA 17 48 3.99e-14 1.14e-13 1 0 DPP6 1804 broad.mit.edu 37 7 154561189 154561189 + Missense_Mutation SNP G G A TCGA-CV-7263-01A-11D-2012-08 TCGA-CV-7263-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 19a07472-c8b9-4a34-b2cb-11ace35e7903 d34d6638-773d-4695-a34a-63d7f9685243 g.chr7:154561189G>A uc003wlk.2 + 9 1075 c.946G>A c.(946-948)GCC>ACC p.A316T DPP6_uc003wli.2_Missense_Mutation_p.A252T|DPP6_uc003wlm.2_Missense_Mutation_p.A254T|DPP6_uc011kvq.1_Missense_Mutation_p.A209T NM_130797 NP_570629 P42658 DPP6_HUMAN dipeptidyl-peptidase 6 isoform 1 316 Extracellular (Potential). cell death|proteolysis integral to membrane dipeptidyl-peptidase activity|serine-type peptidase activity pancreas(3)|breast(1) 4 all_neural(206;0.181) all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204) OV - Ovarian serous cystadenocarcinoma(82;0.0562) ACTCGCCTACGCCGCCATCAA 0.522 NA 12 65 0 0 0 0 IDO1 3620 broad.mit.edu 37 8 39775722 39775722 + Missense_Mutation SNP G G A TCGA-CV-7263-01A-11D-2012-08 TCGA-CV-7263-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 19a07472-c8b9-4a34-b2cb-11ace35e7903 d34d6638-773d-4695-a34a-63d7f9685243 g.chr8:39775722G>A uc003xnm.2 + 3 413 c.299G>A c.(298-300)CGT>CAT p.R100H IDO1_uc003xnn.2_RNA NM_002164 NP_002155 P14902 I23O1_HUMAN indoleamine 2,3-dioxygenase 1 100 female pregnancy|tryptophan catabolic process cytosol electron carrier activity|heme binding|indoleamine 2,3-dioxygenase activity|tryptophan 2,3-dioxygenase activity central_nervous_system(2) 2 L-Tryptophan(DB00150) GGAGATGTCCGTAAGGTTTGG 0.393 NA 16 80 0 0 0 0 SLCO5A1 81796 broad.mit.edu 37 8 70674022 70674022 + Silent SNP A A G TCGA-CV-7263-01A-11D-2012-08 TCGA-CV-7263-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 19a07472-c8b9-4a34-b2cb-11ace35e7903 d34d6638-773d-4695-a34a-63d7f9685243 g.chr8:70674022A>G uc003xyl.2 - 3 1703 c.996T>C c.(994-996)AAT>AAC p.N332N SLCO5A1_uc010lzb.2_Silent_p.N332N|SLCO5A1_uc011lfa.1_Intron|SLCO5A1_uc003xyk.2_Silent_p.N332N|SLCO5A1_uc010lzc.2_Silent_p.N332N NM_030958 NP_112220 Q9H2Y9 SO5A1_HUMAN solute carrier organic anion transporter family, 332 Extracellular (Potential). integral to membrane|plasma membrane transporter activity ovary(3)|upper_aerodigestive_tract(1) 4 Breast(64;0.0654) Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594) GGTGAACAGGATTTCTGGGAT 0.378 NA 4 55 0 0 0 0 SNTB1 6641 broad.mit.edu 37 8 121706116 121706116 + Missense_Mutation SNP T T C TCGA-CV-7263-01A-11D-2012-08 TCGA-CV-7263-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 19a07472-c8b9-4a34-b2cb-11ace35e7903 d34d6638-773d-4695-a34a-63d7f9685243 g.chr8:121706116T>C uc010mdg.2 - 2 830 c.604A>G c.(604-606)AAG>GAG p.K202E SNTB1_uc003ype.2_Missense_Mutation_p.K202E NM_021021 NP_066301 Q13884 SNTB1_HUMAN basic beta 1 syntrophin 202 PH 1. muscle contraction cell junction|cytoplasm|cytoskeleton|dystrophin-associated glycoprotein complex|sarcolemma actin binding|calmodulin binding skin(5) 5 Lung NSC(37;4.46e-09)|Ovarian(258;0.0254)|Hepatocellular(40;0.0997) STAD - Stomach adenocarcinoma(47;0.00503) GATCCTTTCTTCACATAGGGC 0.517 NA 21 86 0 0 0 0 LRRC6 23639 broad.mit.edu 37 8 133596002 133596002 + Nonsense_Mutation SNP G G A TCGA-CV-7263-01A-11D-2012-08 TCGA-CV-7263-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 19a07472-c8b9-4a34-b2cb-11ace35e7903 d34d6638-773d-4695-a34a-63d7f9685243 g.chr8:133596002G>A uc003ytk.2 - 11 1239 c.1165C>T c.(1165-1167)CAG>TAG p.Q389* LRRC6_uc003ytl.2_RNA NM_012472 NP_036604 Q86X45 LRRC6_HUMAN leucine rich repeat containing 6 389 CS. cytoplasm ovary(1)|kidney(1) 2 Ovarian(258;0.00352)|Esophageal squamous(12;0.00507)|all_neural(3;0.0052)|Medulloblastoma(3;0.0922)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.000311) AATGCTCGCTGACCACCTGTG 0.378 NA 33 42 0 0 0 0 NFX1 4799 broad.mit.edu 37 9 33294473 33294473 + Missense_Mutation SNP T T A TCGA-CV-7263-01A-11D-2012-08 TCGA-CV-7263-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 19a07472-c8b9-4a34-b2cb-11ace35e7903 d34d6638-773d-4695-a34a-63d7f9685243 g.chr9:33294473T>A uc003zsq.2 + 2 142 c.81T>A c.(79-81)AAT>AAA p.N27K SUGT1P1_uc010mjq.1_Intron|NFX1_uc011lnw.1_Missense_Mutation_p.N27K|NFX1_uc003zso.2_Missense_Mutation_p.N27K|NFX1_uc003zsp.1_Missense_Mutation_p.N27K|NFX1_uc010mjr.1_Missense_Mutation_p.N27K|NFX1_uc003zsr.2_Missense_Mutation_p.N27K NM_002504 NP_002495 Q12986 NFX1_HUMAN nuclear transcription factor, X-box binding 1 27 inflammatory response|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter nucleus DNA binding|ligase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1) 1 LUSC - Lung squamous cell carcinoma(29;0.00506) GBM - Glioblastoma multiforme(74;0.224) AGAAAAAAAATTCTGGTCTAA 0.383 NA 84 104 0 0 0 0 VPS13A 23230 broad.mit.edu 37 9 79955422 79955422 + Missense_Mutation SNP G G A TCGA-CV-7263-01A-11D-2012-08 TCGA-CV-7263-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 19a07472-c8b9-4a34-b2cb-11ace35e7903 d34d6638-773d-4695-a34a-63d7f9685243 g.chr9:79955422G>A uc004akr.2 + 50 7242 c.6982G>A c.(6982-6984)GCT>ACT p.A2328T VPS13A_uc004akp.3_Missense_Mutation_p.A2328T|VPS13A_uc004akq.3_Missense_Mutation_p.A2328T|VPS13A_uc004aks.2_Missense_Mutation_p.A2289T NM_033305 NP_150648 Q96RL7 VP13A_HUMAN vacuolar protein sorting 13A isoform A 2328 Golgi to endosome transport|protein transport intracellular protein binding pancreas(3)|skin(3)|ovary(2)|large_intestine(1)|central_nervous_system(1) 10 TATATCAGTGGCTGAAGAAGG 0.338 NA 17 56 0 0 0 0 OR1L8 138881 broad.mit.edu 37 9 125330736 125330736 + Silent SNP G G T TCGA-CV-7263-01A-11D-2012-08 TCGA-CV-7263-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 19a07472-c8b9-4a34-b2cb-11ace35e7903 d34d6638-773d-4695-a34a-63d7f9685243 g.chr9:125330736G>T uc004bmp.1 - 1 21 c.21C>A c.(19-21)ACC>ACA p.T7T NM_001004454 NP_001004454 Q8NGR8 OR1L8_HUMAN olfactory receptor, family 1, subfamily L, 7 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|central_nervous_system(1) 3 AGACACTGCTGGTGTGGTTGA 0.448 NA 7 54 2.74e-10 7.72e-10 1 0 ODF2 4957 broad.mit.edu 37 9 131247076 131247076 + Missense_Mutation SNP A A T TCGA-CV-7263-01A-11D-2012-08 TCGA-CV-7263-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 19a07472-c8b9-4a34-b2cb-11ace35e7903 d34d6638-773d-4695-a34a-63d7f9685243 g.chr9:131247076A>T uc011mbd.1 + 12 1512 c.1201A>T c.(1201-1203)AGC>TGC p.S401C ODF2_uc011maz.1_Missense_Mutation_p.S401C|ODF2_uc010myb.2_Missense_Mutation_p.S377C|ODF2_uc011mbb.1_Missense_Mutation_p.S335C|ODF2_uc011mbc.1_Missense_Mutation_p.S320C|ODF2_uc004bva.2_Missense_Mutation_p.S354C|ODF2_uc004bvb.2_Missense_Mutation_p.S377C|ODF2_uc011mbe.1_Missense_Mutation_p.S396C|ODF2_uc004bvc.2_Missense_Mutation_p.S377C|ODF2_uc010myc.2_Missense_Mutation_p.S344C|ODF2_uc011mbf.1_Missense_Mutation_p.S382C|ODF2_uc004bvd.3_Missense_Mutation_p.S401C|ODF2_uc004bve.2_Missense_Mutation_p.S382C|uc004bvg.2_5'Flank NM_002540 NP_002531 Q5BJF6 ODFP2_HUMAN outer dense fiber of sperm tails 2 isoform 1 401 Potential. cell differentiation|G2/M transition of mitotic cell cycle|multicellular organismal development|spermatogenesis centriole|cilium|cytosol|microtubule|spindle pole protein binding|structural molecule activity ovary(1) 1 AGACAAAGAGAGCTTGAAGAA 0.567 NA 5 16 0 0 0 0 SNAPC4 6621 broad.mit.edu 37 9 139273385 139273385 + Missense_Mutation SNP G G A TCGA-CV-7263-01A-11D-2012-08 TCGA-CV-7263-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 19a07472-c8b9-4a34-b2cb-11ace35e7903 d34d6638-773d-4695-a34a-63d7f9685243 g.chr9:139273385G>A uc004chh.2 - 21 2903 c.2894C>T c.(2893-2895)ACT>ATT p.T965I NM_003086 NP_003077 Q5SXM2 SNPC4_HUMAN small nuclear RNA activating complex, 965 Pro-rich. snRNA transcription from RNA polymerase II promoter|snRNA transcription from RNA polymerase III promoter snRNA-activating protein complex DNA binding|sequence-specific DNA binding transcription factor activity 0 Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;5.31e-06)|Epithelial(140;7.13e-06) GGAGCCAGAAGTGCCAGGTTT 0.667 NA 14 23 0 0 0 0 MAGEB10 139422 broad.mit.edu 37 X 27839869 27839869 + Missense_Mutation SNP T T A TCGA-CV-7263-01A-11D-2012-08 TCGA-CV-7263-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 19a07472-c8b9-4a34-b2cb-11ace35e7903 d34d6638-773d-4695-a34a-63d7f9685243 g.chrX:27839869T>A uc004dbw.2 + 3 673 c.446T>A c.(445-447)TTC>TAC p.F149Y NM_182506 NP_872312 Q96LZ2 MAGBA_HUMAN melanoma antigen family B, 10 149 MAGE. lung(1)|breast(1)|central_nervous_system(1) 3 AAGAGCCAGTTCCCTGTAATC 0.438 NA 23 30 0 0 0 0 MED12 9968 broad.mit.edu 37 X 70350030 70350030 + Missense_Mutation SNP A A G TCGA-CV-7263-01A-11D-2012-08 TCGA-CV-7263-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 19a07472-c8b9-4a34-b2cb-11ace35e7903 d34d6638-773d-4695-a34a-63d7f9685243 g.chrX:70350030A>G uc004dyy.2 + 28 4212 c.4013A>G c.(4012-4014)AAC>AGC p.N1338S MED12_uc011mpq.1_Missense_Mutation_p.N1338S|MED12_uc004dyz.2_Missense_Mutation_p.N1338S|MED12_uc004dza.2_Missense_Mutation_p.N1185S|MED12_uc010nla.2_5'UTR NM_005120 NP_005111 Q93074 MED12_HUMAN mediator complex subunit 12 1338 androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter mediator complex ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding ovary(1)|breast(1)|central_nervous_system(1)|skin(1) 4 Renal(35;0.156) GATGGGGAAAACCCCCAGCGG 0.577 NA 2 11 0 0 0 0 XKRX 402415 broad.mit.edu 37 X 100183281 100183281 + Missense_Mutation SNP A A G TCGA-CV-7263-01A-11D-2012-08 TCGA-CV-7263-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 19a07472-c8b9-4a34-b2cb-11ace35e7903 d34d6638-773d-4695-a34a-63d7f9685243 g.chrX:100183281A>G uc004egn.2 - 1 618 c.13T>C c.(13-15)TAT>CAT p.Y5H XKRX_uc011mre.1_5'UTR NM_212559 NP_997724 Q6PP77 XKR2_HUMAN XK, Kell blood group complex subunit-related, 5 integral to membrane|plasma membrane breast(1) 1 GGAATTTCATAAACTCTGTCC 0.488 NA 72 65 0 0 0 0 MLEC 9761 broad.mit.edu 37 12 121134166 121134168 + In_Frame_Del DEL GAA GAA - TCGA-CV-7263-01A-11D-2012-08 TCGA-CV-7263-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 19a07472-c8b9-4a34-b2cb-11ace35e7903 d34d6638-773d-4695-a34a-63d7f9685243 g.chr12:121134166_121134168delGAA uc001tyy.1 + 5 848_850 c.697_699delGAA c.(697-699)GAAdel p.E238del NM_014730 NP_055545 Q14165 MLEC_HUMAN malectin precursor 238 Poly-Glu.|Lumenal (Potential). post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine endoplasmic reticulum membrane|integral to membrane carbohydrate binding ovary(1) 1 gaaagaagaggaagaagaagaag 0.404 NA 7 158 --- --- --- --- NA NA NA NA CD300E 342510 broad.mit.edu 37 17 72608823 72608823 + Frame_Shift_Del DEL T T - TCGA-CV-7263-01A-11D-2012-08 TCGA-CV-7263-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 19a07472-c8b9-4a34-b2cb-11ace35e7903 d34d6638-773d-4695-a34a-63d7f9685243 g.chr17:72608823delT uc002jlb.1 - 4 628 c.587delA c.(586-588)AACfs p.N196fs NM_181449 NP_852114 Q496F6 CLM2_HUMAN CD300e molecule precursor 196 Cytoplasmic (Potential). integral to membrane|plasma membrane receptor activity skin(2)|large_intestine(1)|ovary(1) 4 CTGAGGCCTGTTCACCCAGAA 0.632 NA 26 98 --- --- --- --- NA NA NA NA C20orf118 140711 broad.mit.edu 37 20 35515884 35515884 + Frame_Shift_Del DEL T T - TCGA-CV-7263-01A-11D-2012-08 TCGA-CV-7263-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 19a07472-c8b9-4a34-b2cb-11ace35e7903 d34d6638-773d-4695-a34a-63d7f9685243 g.chr20:35515884delT uc002xgg.1 + 5 473 c.465delT c.(463-465)TCTfs p.S155fs NM_080628 NP_542195 A0PJX2 CT118_HUMAN hypothetical protein LOC140711 155 TLD. 0 Myeloproliferative disorder(115;0.00874) GAAGCAACTCTTTCTTTGTGA 0.532 NA OREG0025911 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 29 112 --- --- --- --- NA NA NA NA SFRS15 57466 broad.mit.edu 37 21 33060638 33060639 + Frame_Shift_Ins INS - - A TCGA-CV-7263-01A-11D-2012-08 TCGA-CV-7263-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 19a07472-c8b9-4a34-b2cb-11ace35e7903 d34d6638-773d-4695-a34a-63d7f9685243 g.chr21:33060638_33060639insA uc002ypd.2 - 16 2450_2451 c.2024_2025insT c.(2023-2025)ATAfs p.I675fs SFRS15_uc002ype.2_Frame_Shift_Ins_p.I675fs|SFRS15_uc010glu.2_Frame_Shift_Ins_p.I660fs|SFRS15_uc002ypf.1_Frame_Shift_Ins_p.I349fs NM_020706 NP_065757 O95104 SFR15_HUMAN splicing factor, arginine/serine-rich 15 isoform 675 nucleus nucleotide binding|RNA binding 0 GTGGCACTGTTATAGGTGCAGG 0.441 NA 38 118 --- --- --- --- NA NA NA NA BAP1 8314 broad.mit.edu 37 3 52439912 52439913 + Frame_Shift_Del DEL TG TG - TCGA-CV-7263-01A-11D-2012-08 TCGA-CV-7263-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 19a07472-c8b9-4a34-b2cb-11ace35e7903 d34d6638-773d-4695-a34a-63d7f9685243 g.chr3:52439912_52439913delTG uc003ddx.2 - 10 914_915 c.799_800delCA c.(799-801)CAGfs p.Q267fs BAP1_uc003ddw.2_5'Flank|BAP1_uc010hmg.2_5'Flank|BAP1_uc010hmh.2_5'Flank NM_004656 NP_004647 Q92560 BAP1_HUMAN BRCA1 associated protein-1 267 monoubiquitinated histone H2A deubiquitination|negative regulation of cell proliferation|protein K48-linked deubiquitination|regulation of cell cycle|regulation of cell growth|ubiquitin-dependent protein catabolic process cytoplasm|nucleolus|PR-DUB complex chromatin binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity pleura(32)|eye(28)|lung(2)|ovary(2)|breast(1) 65 BRCA - Breast invasive adenocarcinoma(193;1.72e-05)|Kidney(197;0.0018)|KIRC - Kidney renal clear cell carcinoma(197;0.00203)|OV - Ovarian serous cystadenocarcinoma(275;0.0277) CAGCTCTGGCTGTGTTACTCTT 0.52 NA N|Mis|F|S|O uveal melanoma|breast|NSCLC 21 44 --- --- --- --- NA NA NA NA FBXW7 55294 broad.mit.edu 37 4 153251878 153251886 + Splice_Site DEL AGTTACCTT AGTTACCTT - TCGA-CV-7263-01A-11D-2012-08 TCGA-CV-7263-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 19a07472-c8b9-4a34-b2cb-11ace35e7903 d34d6638-773d-4695-a34a-63d7f9685243 g.chr4:153251878_153251886delAGTTACCTT uc003ims.2 - 7 1271 c.1122_splice c.e7+1 p.K374_splice FBXW7_uc011cii.1_Splice_Site_p.K374_splice|FBXW7_uc003imt.2_Splice_Site_p.K374_splice|FBXW7_uc011cih.1_Splice_Site_p.K198_splice|FBXW7_uc003imq.2_Splice_Site_p.K294_splice|FBXW7_uc003imr.2_Splice_Site_p.K256_splice NM_033632 NP_361014 Q969H0 FBXW7_HUMAN F-box and WD repeat domain containing 7 isoform interspecies interaction between organisms|lipid homeostasis|negative regulation of DNA endoreduplication|negative regulation of hepatocyte proliferation|negative regulation of Notch signaling pathway|negative regulation of triglyceride biosynthetic process|positive regulation of epidermal growth factor receptor activity|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|protein ubiquitination|regulation of lipid storage|regulation of protein localization|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|sister chromatid cohesion|vasculature development nucleolus|nucleolus|nucleoplasm|nucleoplasm|SCF ubiquitin ligase complex protein binding|protein binding haematopoietic_and_lymphoid_tissue(125)|large_intestine(99)|stomach(16)|lung(14)|endometrium(13)|ovary(9)|biliary_tract(8)|upper_aerodigestive_tract(5)|central_nervous_system(3)|kidney(3)|skin(3)|pancreas(3)|breast(2)|prostate(2)|cervix(1)|NS(1)|bone(1) 308 all_hematologic(180;0.093) Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067) TGCAGAGTTCAGTTACCTTAGGAGATTTG 0.388 NA Mis|N|D|F colorectal|endometrial|T-ALL 43 56 --- --- --- --- NA NA NA NA