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 CNR2 1269 broad.mit.edu 37 1 24202069 24202069 + Silent SNP G G C TCGA-BA-5556-01A-01D-1512-08 TCGA-BA-5556-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d31fda32-363b-44e4-8f2c-834a66f46b87 39b1a5f5-ffcd-4af3-8a6f-3c71f1496df7 g.chr1:24202069G>C uc001bif.2 - 2 166 c.39C>G c.(37-39)TCC>TCG p.S13S NM_001841 NP_001832 P34972 CNR2_HUMAN cannabinoid receptor 2 (macrophage) 13 Extracellular (Potential). behavior|G-protein signaling, coupled to cyclic nucleotide second messenger|immune response|inflammatory response dendrite|integral to plasma membrane|perikaryon cannabinoid receptor activity skin(2)|central_nervous_system(1) 3 Colorectal(325;3.46e-05)|Renal(390;0.000219)|Lung NSC(340;0.000233)|all_lung(284;0.000321)|Ovarian(437;0.00348)|Breast(348;0.00957)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;1.32e-24)|Colorectal(126;6.09e-08)|COAD - Colon adenocarcinoma(152;3.33e-06)|GBM - Glioblastoma multiforme(114;2.9e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|KIRC - Kidney renal clear cell carcinoma(1967;0.00359)|STAD - Stomach adenocarcinoma(196;0.0131)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.146) Nabilone(DB00486) AGCCATCCTTGGAGCCATTGG 0.512 NA 24 188 0 0 0 0 THRAP3 9967 broad.mit.edu 37 1 36755247 36755247 + Nonsense_Mutation SNP G G T TCGA-BA-5556-01A-01D-1512-08 TCGA-BA-5556-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d31fda32-363b-44e4-8f2c-834a66f46b87 39b1a5f5-ffcd-4af3-8a6f-3c71f1496df7 g.chr1:36755247G>T uc001cae.3 + 5 1851 c.1627G>T c.(1627-1629)GAG>TAG p.E543* THRAP3_uc001caf.3_Nonsense_Mutation_p.E543*|THRAP3_uc001cag.1_Nonsense_Mutation_p.E543* NM_005119 NP_005110 Q9Y2W1 TR150_HUMAN thyroid hormone receptor associated protein 3 543 androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter mediator complex ATP binding|ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding ovary(5)|lung(3)|breast(1) 9 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164) AAAGACCTCTGAGAGCCGAGA 0.507 NA T USP6 aneurysmal bone cysts 24 198 6.13e-19 7.2e-19 1 0 PODN 127435 broad.mit.edu 37 1 53543413 53543413 + Silent SNP C C T rs138179023 TCGA-BA-5556-01A-01D-1512-08 TCGA-BA-5556-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d31fda32-363b-44e4-8f2c-834a66f46b87 39b1a5f5-ffcd-4af3-8a6f-3c71f1496df7 g.chr1:53543413C>T uc001cuv.2 + 7 946 c.939C>T c.(937-939)CGC>CGT p.R313R PODN_uc001cuw.2_Silent_p.R294R|PODN_uc010onr.1_Silent_p.R294R|PODN_uc010ons.1_Silent_p.R171R NM_153703 NP_714914 Q7Z5L7 PODN_HUMAN podocan 265 LRR 8. negative regulation of cell migration|negative regulation of cell proliferation cytoplasm|extracellular space|proteinaceous extracellular matrix collagen binding ovary(1)|pancreas(1) 2 GCAGCCTGCGCGAGCTATACC 0.612 NA 40 183 0 0 0 0 RTCD1 8634 broad.mit.edu 37 1 100736125 100736125 + Silent SNP C C T TCGA-BA-5556-01A-01D-1512-08 TCGA-BA-5556-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d31fda32-363b-44e4-8f2c-834a66f46b87 39b1a5f5-ffcd-4af3-8a6f-3c71f1496df7 g.chr1:100736125C>T uc001dtc.2 + 4 521 c.303C>T c.(301-303)CTC>CTT p.L101L RTCD1_uc010ouh.1_Silent_p.L101L|RTCD1_uc001dtd.2_Silent_p.L114L NM_003729 NP_003720 O00442 RTC1_HUMAN RNA terminal phosphate cyclase domain 1 isoform 101 RNA processing mitochondrion|nucleoplasm ATP binding|protein binding|RNA binding|RNA-3'-phosphate cyclase activity 0 all_epithelial(167;0.000686)|all_lung(203;0.0154)|Lung NSC(277;0.0155) Epithelial(280;0.0513)|all cancers(265;0.0902)|COAD - Colon adenocarcinoma(174;0.149)|Colorectal(144;0.169)|Lung(183;0.196) GTGTGTGCCTCTTGATGCAGG 0.398 NA 43 289 0 0 0 0 STXBP3 6814 broad.mit.edu 37 1 109342874 109342874 + Silent SNP A A G TCGA-BA-5556-01A-01D-1512-08 TCGA-BA-5556-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d31fda32-363b-44e4-8f2c-834a66f46b87 39b1a5f5-ffcd-4af3-8a6f-3c71f1496df7 g.chr1:109342874A>G uc001dvy.2 + 17 1557 c.1482A>G c.(1480-1482)GAA>GAG p.E494E STXBP3_uc001dvz.2_RNA NM_007269 NP_009200 O00186 STXB3_HUMAN syntaxin binding protein 3 494 negative regulation of calcium ion-dependent exocytosis|neutrophil degranulation|platelet aggregation|protein transport|vesicle docking involved in exocytosis cytosol|nucleus|platelet alpha granule|specific granule|tertiary granule syntaxin-2 binding ovary(3)|central_nervous_system(1) 4 all_epithelial(167;0.000154)|all_lung(203;0.00026)|Lung NSC(277;0.000508) Colorectal(144;0.0386)|Lung(183;0.104)|COAD - Colon adenocarcinoma(174;0.137)|Epithelial(280;0.231) ATTCAAAAGAATGGCCATATT 0.343 NA 15 96 0 0 0 0 APH1A 51107 broad.mit.edu 37 1 150240393 150240393 + Missense_Mutation SNP T T C TCGA-BA-5556-01A-01D-1512-08 TCGA-BA-5556-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d31fda32-363b-44e4-8f2c-834a66f46b87 39b1a5f5-ffcd-4af3-8a6f-3c71f1496df7 g.chr1:150240393T>C uc001ety.1 - 2 570 c.248A>G c.(247-249)CAG>CGG p.Q83R APH1A_uc010pbx.1_Splice_Site_p.G38_splice|APH1A_uc001etz.1_Missense_Mutation_p.Q83R|APH1A_uc001eua.1_Missense_Mutation_p.Q83R|APH1A_uc010pby.1_Intron|APH1A_uc001eub.1_Splice_Site|APH1A_uc010pbz.1_Splice_Site NM_001077628 NP_001071096 Q96BI3 APH1A_HUMAN anterior pharynx defective 1 homolog A isoform 83 Helical; Name=3; (Potential). amyloid precursor protein catabolic process|apoptosis|induction of apoptosis by extracellular signals|membrane protein ectodomain proteolysis|membrane protein intracellular domain proteolysis|nerve growth factor receptor signaling pathway|Notch receptor processing|Notch signaling pathway|positive regulation of catalytic activity|protein processing endoplasmic reticulum membrane|Golgi cisterna membrane|integral to plasma membrane protein binding ovary(1)|lung(1) 2 Lung NSC(24;7.29e-29)|Breast(34;0.00211)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171) LUSC - Lung squamous cell carcinoma(543;0.171) GAACACCTCCTGTAGAAGGAC 0.552 NA 22 134 0 0 0 0 USH2A 7399 broad.mit.edu 37 1 215972260 215972260 + Missense_Mutation SNP T T A TCGA-BA-5556-01A-01D-1512-08 TCGA-BA-5556-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d31fda32-363b-44e4-8f2c-834a66f46b87 39b1a5f5-ffcd-4af3-8a6f-3c71f1496df7 g.chr1:215972260T>A uc001hku.1 - 50 10334 c.9947A>T c.(9946-9948)AAT>ATT p.N3316I NM_206933 NP_996816 O75445 USH2A_HUMAN usherin isoform B 3316 Extracellular (Potential). maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound basement membrane|cytoplasm|integral to membrane|stereocilium membrane collagen binding ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1) 26 OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875) TGGAAGGCGATTGTACACCAC 0.483 NA HNSCC(13;0.011) 36 128 0 0 0 0 USH2A 7399 broad.mit.edu 37 1 216390860 216390860 + Missense_Mutation SNP G G A rs150729680 byFrequency TCGA-BA-5556-01A-01D-1512-08 TCGA-BA-5556-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d31fda32-363b-44e4-8f2c-834a66f46b87 39b1a5f5-ffcd-4af3-8a6f-3c71f1496df7 g.chr1:216390860G>A uc001hku.1 - 15 3413 c.3026C>T c.(3025-3027)GCC>GTC p.A1009V USH2A_uc001hkv.2_Missense_Mutation_p.A1009V NM_206933 NP_996816 O75445 USH2A_HUMAN usherin isoform B 1009 Laminin EGF-like 10.|Extracellular (Potential). maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound basement membrane|cytoplasm|integral to membrane|stereocilium membrane collagen binding ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1) 26 OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875) TTCATTCAAGGCTCCTGAGAG 0.393 NA HNSCC(13;0.011) 9 52 0 0 0 0 MARK1 4139 broad.mit.edu 37 1 220826574 220826574 + Missense_Mutation SNP G G C TCGA-BA-5556-01A-01D-1512-08 TCGA-BA-5556-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d31fda32-363b-44e4-8f2c-834a66f46b87 39b1a5f5-ffcd-4af3-8a6f-3c71f1496df7 g.chr1:220826574G>C uc001hmn.3 + 16 2465 c.1868G>C c.(1867-1869)CGC>CCC p.R623P MARK1_uc009xdw.2_Missense_Mutation_p.R624P|MARK1_uc010pun.1_Missense_Mutation_p.R623P|MARK1_uc001hmm.3_Missense_Mutation_p.R601P NM_018650 NP_061120 Q9P0L2 MARK1_HUMAN MAP/microtubule affinity-regulating kinase 1 623 intracellular protein kinase cascade cytoplasm|microtubule cytoskeleton ATP binding|magnesium ion binding|protein serine/threonine kinase activity ovary(4)|central_nervous_system(2)|skin(2)|stomach(1)|lung(1) 10 GBM - Glioblastoma multiforme(131;0.0407) CGGGAGCGACGCAGCGTTGCT 0.532 NA 19 127 0 0 0 0 AGT 183 broad.mit.edu 37 1 230845931 230845931 + Silent SNP C C T TCGA-BA-5556-01A-01D-1512-08 TCGA-BA-5556-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d31fda32-363b-44e4-8f2c-834a66f46b87 39b1a5f5-ffcd-4af3-8a6f-3c71f1496df7 g.chr1:230845931C>T uc001hty.3 - 2 1174 c.666G>A c.(664-666)CCG>CCA p.P222P AGT_uc009xfe.2_Silent_p.P222P|AGT_uc009xff.2_Silent_p.P194P NM_000029 NP_000020 P01019 ANGT_HUMAN angiotensinogen preproprotein 222 activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|blood vessel remodeling|cell-cell signaling|cellular lipid metabolic process|G-protein signaling, coupled to cGMP nucleotide second messenger|kidney development|low-density lipoprotein particle remodeling|negative regulation of nerve growth factor receptor signaling pathway|nitric oxide mediated signal transduction|positive regulation of activation of JAK2 kinase activity|positive regulation of apoptosis|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of cardiac muscle hypertrophy|positive regulation of cholesterol esterification|positive regulation of cytokine production|positive regulation of endothelial cell migration|positive regulation of epidermal growth factor receptor signaling pathway|positive regulation of fibroblast proliferation|positive regulation of inflammatory response|positive regulation of NAD(P)H oxidase activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein tyrosine kinase activity|positive regulation of reactive oxygen species metabolic process|positive regulation of transcription, DNA-dependent|regulation of proteolysis|regulation of renal output by angiotensin|regulation of renal sodium excretion|regulation of vasoconstriction|renin-angiotensin regulation of aldosterone production|response to muscle activity involved in regulation of muscle adaptation extracellular space|soluble fraction acetyltransferase activator activity|growth factor activity|hormone activity|serine-type endopeptidase inhibitor activity|type 1 angiotensin receptor binding|type 2 angiotensin receptor binding 0 Breast(184;0.0735)|Ovarian(103;0.183) all_cancers(173;4.64e-23)|all_epithelial(177;3.61e-18)|Breast(1374;0.00093)|all_neural(198;0.0604)|Prostate(94;0.167) GBM - Glioblastoma multiforme(131;4.4e-06)|Colorectal(1306;5.46e-06)|COAD - Colon adenocarcinoma(196;0.000256)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258) Aliskiren(DB01258)|Atorvastatin(DB01076)|Cilazapril(DB01340)|Irbesartan(DB01029)|Lisinopril(DB00722)|Ouabain(DB01092)|Simvastatin(DB00641) CCTGCACAAACGGCTGCTTCA 0.617 NA 5 91 0 0 0 0 GREM2 64388 broad.mit.edu 37 1 240656540 240656540 + Missense_Mutation SNP C C T TCGA-BA-5556-01A-01D-1512-08 TCGA-BA-5556-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d31fda32-363b-44e4-8f2c-834a66f46b87 39b1a5f5-ffcd-4af3-8a6f-3c71f1496df7 g.chr1:240656540C>T uc001hys.2 - 2 516 c.236G>A c.(235-237)CGG>CAG p.R79Q NM_022469 NP_071914 Q9H772 GREM2_HUMAN gremlin 2 precursor 79 CTCK. BMP signaling pathway extracellular space cytokine activity 0 all_cancers(173;0.0196) OV - Ovarian serous cystadenocarcinoma(106;0.0123) CACCGTCTGCCGCAGCGGCTG 0.642 NA 4 29 0 0 0 0 GATA3 2625 broad.mit.edu 37 10 8100579 8100579 + Missense_Mutation SNP A A G TCGA-BA-5556-01A-01D-1512-08 TCGA-BA-5556-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d31fda32-363b-44e4-8f2c-834a66f46b87 39b1a5f5-ffcd-4af3-8a6f-3c71f1496df7 g.chr10:8100579A>G uc001ika.2 + 3 1110 c.553A>G c.(553-555)AAG>GAG p.K185E GATA3_uc001ijz.2_Missense_Mutation_p.K185E NM_002051 NP_002042 P23771 GATA3_HUMAN GATA binding protein 3 isoform 2 185 aortic valve morphogenesis|blood coagulation|canonical Wnt receptor signaling pathway involved in metanephric kidney development|cardiac right ventricle morphogenesis|cell fate determination|cellular response to interferon-alpha|cellular response to interleukin-4|cellular response to tumor necrosis factor|defense response|ear development|lymphocyte migration|male gonad development|mesenchymal to epithelial transition|mesonephros development|negative regulation of cell cycle|negative regulation of cell motility|negative regulation of cell proliferation involved in mesonephros development|negative regulation of endothelial cell apoptosis|negative regulation of fat cell differentiation|negative regulation of fibroblast growth factor receptor signaling pathway involved in ureteric bud formation|negative regulation of glial cell-derived neurotrophic factor receptor signaling pathway involved in ureteric bud formation|negative regulation of inflammatory response|negative regulation of mammary gland epithelial cell proliferation|nephric duct formation|norepinephrine biosynthetic process|pharyngeal system development|phosphatidylinositol 3-kinase cascade|positive regulation of endothelial cell migration|positive regulation of interleukin-13 secretion|positive regulation of interleukin-4 production|positive regulation of interleukin-5 secretion|positive regulation of protein kinase B signaling cascade|positive regulation of T cell differentiation|positive regulation of thyroid hormone generation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription regulatory region DNA binding|positive regulation of ureteric bud formation|regulation of cellular response to X-ray|regulation of cytokine biosynthetic process|regulation of nephron tubule epithelial cell differentiation|response to estrogen stimulus|response to virus|sympathetic nervous system development|T cell receptor signaling pathway|TOR signaling cascade|ureteric bud formation|uterus development|ventricular septum development nuclear chromatin|nucleolus|nucleoplasm core promoter proximal region sequence-specific DNA binding|core promoter sequence-specific DNA binding|E-box binding|HMG box domain binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|transcription coactivator activity|transcription factor binding|zinc ion binding breast(17)|ovary(3)|central_nervous_system(2) 22 AGAGTGCCTCAAGTACCAGGT 0.701 NA F|N|S breast HDR syndrome (HYPOPARATHYROIDISM|SENSORINEURAL DEAFNESS|AND RENAL DISEASE) 11 97 0 0 0 0 ANKRD30A 91074 broad.mit.edu 37 10 37430782 37430782 + Missense_Mutation SNP C C A TCGA-BA-5556-01A-01D-1512-08 TCGA-BA-5556-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d31fda32-363b-44e4-8f2c-834a66f46b87 39b1a5f5-ffcd-4af3-8a6f-3c71f1496df7 g.chr10:37430782C>A uc001iza.1 + 7 888 c.789C>A c.(787-789)AGC>AGA p.S263R NM_052997 NP_443723 Q9BXX3 AN30A_HUMAN ankyrin repeat domain 30A 319 nucleus DNA binding|sequence-specific DNA binding transcription factor activity ovary(7)|breast(1)|skin(1) 9 CGGCTGAAAGCTTGGTGGAAA 0.483 NA 8 64 0.000274275 0.000291741 1 0 EXOSC1 51013 broad.mit.edu 37 10 99196219 99196219 + Missense_Mutation SNP C C T TCGA-BA-5556-01A-01D-1512-08 TCGA-BA-5556-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d31fda32-363b-44e4-8f2c-834a66f46b87 39b1a5f5-ffcd-4af3-8a6f-3c71f1496df7 g.chr10:99196219C>T uc001kni.2 - 8 597 c.571G>A c.(571-573)GAA>AAA p.E191K EXOSC1_uc009xvp.1_RNA NM_016046 NP_057130 Q9Y3B2 EXOS1_HUMAN exosomal core protein CSL4 191 exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|rRNA processing cytosol|exosome (RNase complex)|nucleolus protein binding|RNA binding 0 Renal(717;0.000147)|Colorectal(252;0.00205)|Ovarian(717;0.00965) all cancers(201;8.29e-42)|Epithelial(162;5.7e-33)|BRCA - Breast invasive adenocarcinoma(275;0.000315)|Kidney(138;0.000832)|KIRC - Kidney renal clear cell carcinoma(50;0.00269)|STAD - Stomach adenocarcinoma(243;0.202) TGCAAGAATTCGGGTTGTACT 0.478 NA 17 174 0 0 0 0 HRAS 3265 broad.mit.edu 37 11 534286 534286 + Missense_Mutation SNP C C G rs104894228 TCGA-BA-5556-01A-01D-1512-08 TCGA-BA-5556-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d31fda32-363b-44e4-8f2c-834a66f46b87 39b1a5f5-ffcd-4af3-8a6f-3c71f1496df7 g.chr11:534286C>G uc001lpv.2 - 2 225 c.37G>C c.(37-39)GGT>CGT p.G13R HRAS_uc010qvw.1_Missense_Mutation_p.G13R|HRAS_uc010qvx.1_Missense_Mutation_p.G13R|HRAS_uc010qvy.1_RNA NM_005343 NP_005334 P01112 RASH_HUMAN v-Ha-ras Harvey rat sarcoma viral oncogene 13 GTP. G -> D (in FCSS).|G -> C (in FCSS). activation of MAPKK activity|axon guidance|blood coagulation|cell cycle arrest|cellular senescence|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|mitotic cell cycle G1/S transition checkpoint|negative regulation of cell proliferation|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of DNA replication|positive regulation of epithelial cell proliferation|Ras protein signal transduction|synaptic transmission cytosol|Golgi membrane|plasma membrane GTP binding|GTPase activity|protein C-terminus binding p.G13R(34)|p.G13V(10)|p.G13D(9)|p.G13S(9)|p.G13C(6)|p.G13G(1)|p.G12_G13insAG(1) urinary_tract(174)|thyroid(155)|skin(126)|upper_aerodigestive_tract(112)|soft_tissue(37)|prostate(29)|salivary_gland(24)|cervix(23)|stomach(14)|pituitary(10)|lung(9)|haematopoietic_and_lymphoid_tissue(9)|breast(6)|testis(5)|endometrium(4)|bone(3)|large_intestine(2)|oesophagus(2)|penis(2)|kidney(1)|adrenal_gland(1)|thymus(1) 749 all_cancers(49;4.37e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713) all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703) Sulindac(DB00605) TTGCCCACACCGCCGGCGCCC 0.642 6 Mis infrequent sarcomas|rare other types rhadomyosarcoma|ganglioneuroblastoma|bladder Costello_syndrome HNSCC(11;0.0054) 8 28 0 0 0 0 MUC2 4583 broad.mit.edu 37 11 1087951 1087951 + Silent SNP C C T TCGA-BA-5556-01A-01D-1512-08 TCGA-BA-5556-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d31fda32-363b-44e4-8f2c-834a66f46b87 39b1a5f5-ffcd-4af3-8a6f-3c71f1496df7 g.chr11:1087951C>T uc001lsx.1 + 25 3453 c.3426C>T c.(3424-3426)TTC>TTT p.F1142F NM_002457 NP_002448 Q02817 MUC2_HUMAN mucin 2 precursor 1142 inner mucus layer|outer mucus layer protein binding lung(1)|breast(1) 2 all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191) BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703) Pranlukast(DB01411) ACCGGAGCTTCGAGACCTGCA 0.612 NA 3 18 0 0 0 0 PGAP2 27315 broad.mit.edu 37 11 3845337 3845337 + Silent SNP C C T TCGA-BA-5556-01A-01D-1512-08 TCGA-BA-5556-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d31fda32-363b-44e4-8f2c-834a66f46b87 39b1a5f5-ffcd-4af3-8a6f-3c71f1496df7 g.chr11:3845337C>T uc001lys.2 + 4 699 c.573C>T c.(571-573)CTC>CTT p.L191L PGAP2_uc001lyl.2_Silent_p.L148L|PGAP2_uc010qxw.1_Silent_p.L248L|PGAP2_uc010qxx.1_Missense_Mutation_p.H172Y|PGAP2_uc001lyp.3_Intron|PGAP2_uc010qxy.1_Silent_p.L187L|PGAP2_uc010qxz.1_Silent_p.L187L|PGAP2_uc001lyn.3_Missense_Mutation_p.H84Y|PGAP2_uc010qya.1_RNA|PGAP2_uc001lyr.2_Silent_p.L130L|PGAP2_uc010qyb.1_Missense_Mutation_p.H134Y|PGAP2_uc001lyt.2_5'UTR NM_014489 NP_055304 Q9UHJ9 PGAP2_HUMAN FGF receptor activating protein 1 isoform 1 191 Helical; (Potential). GPI anchor biosynthetic process endoplasmic reticulum membrane|Golgi membrane|integral to membrane protein transporter activity 0 TGCTAGTGCTCACTTATGTCT 0.612 NA 6 38 0 0 0 0 ANO5 203859 broad.mit.edu 37 11 22249037 22249037 + Nonsense_Mutation SNP G G T rs140381407 TCGA-BA-5556-01A-01D-1512-08 TCGA-BA-5556-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d31fda32-363b-44e4-8f2c-834a66f46b87 39b1a5f5-ffcd-4af3-8a6f-3c71f1496df7 g.chr11:22249037G>T uc001mqi.2 + 7 870 c.553G>T c.(553-555)GAA>TAA p.E185* ANO5_uc001mqj.2_Nonsense_Mutation_p.E184* NM_213599 NP_998764 Q75V66 ANO5_HUMAN anoctamin 5 isoform a 185 Cytoplasmic (Potential). chloride channel complex|endoplasmic reticulum membrane chloride channel activity central_nervous_system(3)|ovary(1) 4 TCCCCATCCTGAATATTTTAC 0.463 NA 18 164 8.01e-06 8.79e-06 1 0 PAMR1 25891 broad.mit.edu 37 11 35463155 35463155 + Missense_Mutation SNP G G A rs149018193 TCGA-BA-5556-01A-01D-1512-08 TCGA-BA-5556-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d31fda32-363b-44e4-8f2c-834a66f46b87 39b1a5f5-ffcd-4af3-8a6f-3c71f1496df7 g.chr11:35463155G>A uc001mwg.2 - 7 950 c.907C>T c.(907-909)CGC>TGC p.R303C PAMR1_uc001mwf.2_Missense_Mutation_p.R320C|PAMR1_uc010rew.1_Missense_Mutation_p.R192C|PAMR1_uc010rex.1_Missense_Mutation_p.R263C NM_001001991 NP_001001991 Q6UXH9 PAMR1_HUMAN regeneration associated muscle protease isoform 303 Sushi 1. proteolysis extracellular region serine-type endopeptidase activity ovary(2) 2 TTAGCATGGCGTCCGTTGATA 0.468 NA 50 178 0 0 0 0 MADD 8567 broad.mit.edu 37 11 47330541 47330541 + Silent SNP A A G TCGA-BA-5556-01A-01D-1512-08 TCGA-BA-5556-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d31fda32-363b-44e4-8f2c-834a66f46b87 39b1a5f5-ffcd-4af3-8a6f-3c71f1496df7 g.chr11:47330541A>G uc001ner.1 + 26 4070 c.3879A>G c.(3877-3879)AAA>AAG p.K1293K MADD_uc001neq.2_Intron|MADD_uc001nev.1_Intron|MADD_uc001nes.1_Intron|MADD_uc001net.1_Intron|MADD_uc009yln.1_Intron|MADD_uc001neu.1_Intron|MADD_uc001nex.2_Silent_p.K1293K|MADD_uc001nez.2_Intron|MADD_uc001new.2_Intron|MADD_uc009ylo.2_Silent_p.K207K NM_003682 NP_003673 Q8WXG6 MADD_HUMAN MAP-kinase activating death domain-containing 1293 activation of MAPK activity|apoptosis|cell surface receptor linked signaling pathway|regulation of apoptosis|regulation of cell cycle cytoplasm|integral to membrane|plasma membrane death receptor binding|protein kinase activator activity|Rab guanyl-nucleotide exchange factor activity ovary(5)|skin(4)|central_nervous_system(2) 11 Lung(87;0.182) GAAGGGACAAAGGATCCATGT 0.458 NA 36 172 0 0 0 0 OR8J3 81168 broad.mit.edu 37 11 55904306 55904306 + Missense_Mutation SNP C C A TCGA-BA-5556-01A-01D-1512-08 TCGA-BA-5556-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d31fda32-363b-44e4-8f2c-834a66f46b87 39b1a5f5-ffcd-4af3-8a6f-3c71f1496df7 g.chr11:55904306C>A uc010riz.1 - 1 889 c.889G>T c.(889-891)GTA>TTA p.V297L NM_001004064 NP_001004064 Q8NGG0 OR8J3_HUMAN olfactory receptor, family 8, subfamily J, 297 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2) 2 Esophageal squamous(21;0.00693) GCAACATTTACATCATTATTC 0.338 NA 20 141 3.99e-14 4.6e-14 1 0 OR9Q1 219956 broad.mit.edu 37 11 57947391 57947391 + Missense_Mutation SNP C C T rs2513718 TCGA-BA-5556-01A-01D-1512-08 TCGA-BA-5556-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d31fda32-363b-44e4-8f2c-834a66f46b87 39b1a5f5-ffcd-4af3-8a6f-3c71f1496df7 g.chr11:57947391C>T uc001nmj.2 + 3 791 c.475C>T c.(475-477)CGG>TGG p.R159W NM_001005212 NP_001005212 Q8NGQ5 OR9Q1_HUMAN olfactory receptor, family 9, subfamily Q, 159 Helical; Name=4; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 Breast(21;0.222) TGCCTTGGTGCGGACAGTCTC 0.537 NA 24 62 0 0 0 0 OR1S1 219959 broad.mit.edu 37 11 57982965 57982965 + Missense_Mutation SNP C C T TCGA-BA-5556-01A-01D-1512-08 TCGA-BA-5556-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d31fda32-363b-44e4-8f2c-834a66f46b87 39b1a5f5-ffcd-4af3-8a6f-3c71f1496df7 g.chr11:57982965C>T uc010rkc.1 + 1 749 c.749C>T c.(748-750)GCC>GTC p.A250V NM_001004458 NP_001004458 Q8NH92 OR1S1_HUMAN olfactory receptor, family 1, subfamily S, 250 Helical; Name=6; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1) 1 Breast(21;0.0589) AAGTGGAAAGCCTTCTCCACT 0.468 NA 25 110 0 0 0 0 OR4D10 390197 broad.mit.edu 37 11 59244959 59244959 + Silent SNP G G A TCGA-BA-5556-01A-01D-1512-08 TCGA-BA-5556-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d31fda32-363b-44e4-8f2c-834a66f46b87 39b1a5f5-ffcd-4af3-8a6f-3c71f1496df7 g.chr11:59244959G>A uc001nnz.1 + 1 57 c.57G>A c.(55-57)CAG>CAA p.Q19Q NM_001004705 NP_001004705 Q8NGI6 OR4DA_HUMAN olfactory receptor, family 4, subfamily D, 19 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|skin(1) 3 GCCTGACCCAGAATCGGGAAG 0.403 NA 5 162 0 0 0 0 NRXN2 9379 broad.mit.edu 37 11 64397889 64397889 + Missense_Mutation SNP C C T TCGA-BA-5556-01A-01D-1512-08 TCGA-BA-5556-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d31fda32-363b-44e4-8f2c-834a66f46b87 39b1a5f5-ffcd-4af3-8a6f-3c71f1496df7 g.chr11:64397889C>T uc001oap.2 - 4 1115 c.604G>A c.(604-606)GAG>AAG p.E202K NRXN2_uc001oar.2_Missense_Mutation_p.E1248K|NRXN2_uc001oas.2_Missense_Mutation_p.E1208K|NRXN2_uc001oaq.2_Missense_Mutation_p.E915K NM_138734 NP_620063 P58401 NRX2B_HUMAN neurexin 2 isoform beta precursor 202 Extracellular (Potential).|Laminin G-like. cell adhesion integral to membrane upper_aerodigestive_tract(2)|central_nervous_system(2)|skin(2)|ovary(2)|kidney(1)|pancreas(1) 10 GGGTACCGCTCGTTGACCGGC 0.507 NA 10 60 0 0 0 0 SF1 7536 broad.mit.edu 37 11 64536792 64536792 + Nonsense_Mutation SNP G G A TCGA-BA-5556-01A-01D-1512-08 TCGA-BA-5556-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d31fda32-363b-44e4-8f2c-834a66f46b87 39b1a5f5-ffcd-4af3-8a6f-3c71f1496df7 g.chr11:64536792G>A uc001obb.1 - 7 1059 c.682C>T c.(682-684)CAG>TAG p.Q228* SF1_uc010rnm.1_5'Flank|SF1_uc010rnn.1_Nonsense_Mutation_p.Q202*|SF1_uc001oaz.1_Nonsense_Mutation_p.Q353*|SF1_uc001oba.1_Nonsense_Mutation_p.Q228*|SF1_uc001obc.1_Nonsense_Mutation_p.Q228*|SF1_uc001obd.1_Nonsense_Mutation_p.Q228*|SF1_uc001obe.1_Nonsense_Mutation_p.Q113*|SF1_uc010rno.1_Nonsense_Mutation_p.Q113* NM_004630 NP_004621 Q15637 SF01_HUMAN splicing factor 1 isoform 1 228 nuclear mRNA 3'-splice site recognition|regulation of transcription, DNA-dependent|transcription, DNA-dependent ribosome|spliceosomal complex protein binding|RNA binding|transcription corepressor activity|zinc ion binding ovary(1)|breast(1)|skin(1) 3 TCGATACCCTGCTTCAGGATG 0.502 NA 6 121 0 0 0 0 C11orf30 56946 broad.mit.edu 37 11 76171120 76171120 + Missense_Mutation SNP T T C TCGA-BA-5556-01A-01D-1512-08 TCGA-BA-5556-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d31fda32-363b-44e4-8f2c-834a66f46b87 39b1a5f5-ffcd-4af3-8a6f-3c71f1496df7 g.chr11:76171120T>C uc001oxl.2 + 6 705 c.562T>C c.(562-564)TAT>CAT p.Y188H C11orf30_uc001oxk.2_3'UTR|C11orf30_uc009yuj.1_Missense_Mutation_p.Y203H|C11orf30_uc010rsa.1_Intron|C11orf30_uc001oxm.2_Missense_Mutation_p.Y189H|C11orf30_uc010rsb.1_Missense_Mutation_p.Y203H|C11orf30_uc010rsc.1_Missense_Mutation_p.Y203H|C11orf30_uc001oxn.2_Missense_Mutation_p.Y189H|C11orf30_uc010rsd.1_Missense_Mutation_p.Y202H NM_020193 NP_064578 Q7Z589 EMSY_HUMAN EMSY protein 188 Interaction with BRCA2. chromatin modification|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ovary(5)|skin(1) 6 AAGTACTGTTTATGTCAAAAG 0.458 NA 45 309 0 0 0 0 CNTN5 53942 broad.mit.edu 37 11 100179177 100179177 + Missense_Mutation SNP C C G TCGA-BA-5556-01A-01D-1512-08 TCGA-BA-5556-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d31fda32-363b-44e4-8f2c-834a66f46b87 39b1a5f5-ffcd-4af3-8a6f-3c71f1496df7 g.chr11:100179177C>G uc001pga.2 + 21 3046 c.2707C>G c.(2707-2709)CTA>GTA p.L903V CNTN5_uc001pfz.2_Missense_Mutation_p.L903V|CNTN5_uc001pgb.2_Missense_Mutation_p.L829V|CNTN5_uc010ruk.1_Missense_Mutation_p.L174V NM_014361 NP_055176 O94779 CNTN5_HUMAN contactin 5 isoform long 903 Fibronectin type-III 3. cell adhesion anchored to membrane|plasma membrane protein binding skin(3)|ovary(2)|pancreas(2)|breast(1) 8 all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219) BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196) TAAAGAGAGTCTAGGAAGACC 0.418 NA 8 49 0 0 0 0 HTR3B 9177 broad.mit.edu 37 11 113803138 113803138 + Missense_Mutation SNP G G A TCGA-BA-5556-01A-01D-1512-08 TCGA-BA-5556-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d31fda32-363b-44e4-8f2c-834a66f46b87 39b1a5f5-ffcd-4af3-8a6f-3c71f1496df7 g.chr11:113803138G>A uc001pok.2 + 5 563 c.496G>A c.(496-498)GTC>ATC p.V166I HTR3B_uc001pol.2_Missense_Mutation_p.V155I NM_006028 NP_006019 O95264 5HT3B_HUMAN 5-hydroxytryptamine (serotonin) receptor 3B 166 Extracellular (Potential). synaptic transmission integral to plasma membrane|postsynaptic membrane serotonin receptor activity|serotonin-activated cation-selective channel activity 0 all_cancers(61;6.81e-18)|all_epithelial(67;6.67e-11)|all_hematologic(158;4.67e-05)|Melanoma(852;0.000316)|Acute lymphoblastic leukemia(157;0.000976)|Breast(348;0.0101)|Prostate(24;0.0154)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425) BRCA - Breast invasive adenocarcinoma(274;3.04e-06)|Epithelial(105;1.98e-05)|all cancers(92;0.000201)|OV - Ovarian serous cystadenocarcinoma(223;0.151) TCCATTTGATGTCCAGAATTG 0.428 NA 4 144 0 0 0 0 BSX 390259 broad.mit.edu 37 11 122849989 122849989 + Missense_Mutation SNP G G A TCGA-BA-5556-01A-01D-1512-08 TCGA-BA-5556-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d31fda32-363b-44e4-8f2c-834a66f46b87 39b1a5f5-ffcd-4af3-8a6f-3c71f1496df7 g.chr11:122849989G>A uc010rzs.1 - 2 439 c.439C>T c.(439-441)CTC>TTC p.L147F NM_001098169 NP_001091639 Q3C1V8 BSH_HUMAN brain specific homeobox 147 Homeobox. 0 Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0361) GACAGGCTGAGGGCCGTGGCC 0.612 NA 43 119 0 0 0 0 OR6T1 219874 broad.mit.edu 37 11 123813728 123813728 + Missense_Mutation SNP C C A TCGA-BA-5556-01A-01D-1512-08 TCGA-BA-5556-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d31fda32-363b-44e4-8f2c-834a66f46b87 39b1a5f5-ffcd-4af3-8a6f-3c71f1496df7 g.chr11:123813728C>A uc010sab.1 - 1 818 c.818G>T c.(817-819)GGT>GTT p.G273V NM_001005187 NP_001005187 Q8NGN1 OR6T1_HUMAN olfactory receptor, family 6, subfamily T, 273 Helical; Name=7; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0401) GACGGAGGCACCTTTGTTGAG 0.512 NA 70 226 5.02e-34 5.93e-34 1 0 DYRK4 8798 broad.mit.edu 37 12 4721794 4721794 + Missense_Mutation SNP A A T TCGA-BA-5556-01A-01D-1512-08 TCGA-BA-5556-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d31fda32-363b-44e4-8f2c-834a66f46b87 39b1a5f5-ffcd-4af3-8a6f-3c71f1496df7 g.chr12:4721794A>T uc001qmx.2 + 12 1391 c.1231A>T c.(1231-1233)AGG>TGG p.R411W DYRK4_uc009zeh.1_Missense_Mutation_p.R526W|DYRK4_uc001qmy.1_Missense_Mutation_p.R411W|DYRK4_uc001qmz.1_Missense_Mutation_p.R125W|DYRK4_uc001qna.1_Missense_Mutation_p.R48W|DYRK4_uc010ser.1_Missense_Mutation_p.R48W NM_003845 NP_003836 Q9NR20 DYRK4_HUMAN dual-specificity tyrosine-(Y)-phosphorylation 411 Golgi apparatus ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity lung(2)|skin(1) 3 Colorectal(7;0.103) GCCACAGCCCAGGCCCCAGAC 0.542 NA 23 149 0 0 0 0 RERG 85004 broad.mit.edu 37 12 15262344 15262344 + Silent SNP G G A TCGA-BA-5556-01A-01D-1512-08 TCGA-BA-5556-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d31fda32-363b-44e4-8f2c-834a66f46b87 39b1a5f5-ffcd-4af3-8a6f-3c71f1496df7 g.chr12:15262344G>A uc001rcs.2 - 4 440 c.300C>T c.(298-300)AAC>AAT p.N100N RERG_uc001rct.2_Silent_p.N100N|RERG_uc010shu.1_Silent_p.N81N NM_032918 NP_116307 Q96A58 RERG_HUMAN RAS-like, estrogen-regulated, growth inhibitor 100 negative regulation of cell growth|negative regulation of cell proliferation|response to hormone stimulus|small GTPase mediated signal transduction cytosol|membrane|nucleus estrogen receptor binding|GDP binding|GTP binding|GTPase activity lung(1) 1 CATCTAGGATGTTCTTAAGTG 0.498 NA 91 414 0 0 0 0 SFRS2IP 9169 broad.mit.edu 37 12 46316327 46316327 + Silent SNP T T C TCGA-BA-5556-01A-01D-1512-08 TCGA-BA-5556-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d31fda32-363b-44e4-8f2c-834a66f46b87 39b1a5f5-ffcd-4af3-8a6f-3c71f1496df7 g.chr12:46316327T>C uc001rox.2 - 14 4451 c.4164A>G c.(4162-4164)AAA>AAG p.K1388K SFRS2IP_uc001row.2_Silent_p.K1073K NM_004719 NP_004710 Q99590 SCAFB_HUMAN splicing factor, arginine/serine-rich 2, 1388 spliceosome assembly nucleus protein binding|zinc ion binding 0 Lung SC(27;0.192)|Renal(347;0.236) Lung NSC(34;0.209) OV - Ovarian serous cystadenocarcinoma(5;0.00691) GBM - Glioblastoma multiforme(48;0.1) TGATGGCCAATTTTACCTCTT 0.323 NA 20 96 0 0 0 0 DIP2B 57609 broad.mit.edu 37 12 51080428 51080428 + Missense_Mutation SNP A A T TCGA-BA-5556-01A-01D-1512-08 TCGA-BA-5556-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d31fda32-363b-44e4-8f2c-834a66f46b87 39b1a5f5-ffcd-4af3-8a6f-3c71f1496df7 g.chr12:51080428A>T uc001rwv.2 + 12 1670 c.1514A>T c.(1513-1515)CAC>CTC p.H505L DIP2B_uc009zlt.2_5'UTR NM_173602 NP_775873 Q9P265 DIP2B_HUMAN DIP2 disco-interacting protein 2 homolog B 505 nucleus catalytic activity|transcription factor binding ovary(4)|breast(1)|pancreas(1) 6 TGGCAGCCACACATCTCACCT 0.458 NA 4 24 0 0 0 0 NAV3 89795 broad.mit.edu 37 12 78452823 78452823 + Missense_Mutation SNP G G A TCGA-BA-5556-01A-01D-1512-08 TCGA-BA-5556-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d31fda32-363b-44e4-8f2c-834a66f46b87 39b1a5f5-ffcd-4af3-8a6f-3c71f1496df7 g.chr12:78452823G>A uc001syp.2 + 12 2737 c.2564G>A c.(2563-2565)CGA>CAA p.R855Q NAV3_uc001syo.2_Missense_Mutation_p.R855Q|NAV3_uc010sub.1_Missense_Mutation_p.R355Q NM_014903 NP_055718 Q8IVL0 NAV3_HUMAN neuron navigator 3 855 nuclear outer membrane ATP binding|nucleoside-triphosphatase activity large_intestine(6)|ovary(5)|lung(2)|breast(1)|skin(1)|kidney(1)|pancreas(1) 17 AGTCTGAACCGAATACCAGAC 0.413 NA HNSCC(70;0.22) 20 89 0 0 0 0 HNF1A 6927 broad.mit.edu 37 12 121431330 121431330 + Silent SNP C C T TCGA-BA-5556-01A-01D-1512-08 TCGA-BA-5556-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d31fda32-363b-44e4-8f2c-834a66f46b87 39b1a5f5-ffcd-4af3-8a6f-3c71f1496df7 g.chr12:121431330C>T uc001tzg.2 + 3 557 c.534C>T c.(532-534)ACC>ACT p.T178T HNF1A_uc001tze.1_Silent_p.T178T|HNF1A_uc001tzf.2_Silent_p.T178T|HNF1A_uc010szn.1_Silent_p.T178T NM_000545 NP_000536 P20823 HNF1A_HUMAN hepatic nuclear factor-1-alpha 178 glucose homeostasis|glucose import|insulin secretion|positive regulation of transcription initiation from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|renal glucose absorption cytoplasm|nucleus|protein complex DNA binding|protein dimerization activity|protein heterodimerization activity|protein homodimerization activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding liver(92)|large_intestine(15)|endometrium(6)|breast(2)|lung(1) 116 all_neural(191;0.0684)|Medulloblastoma(191;0.0922) CAGAGTTCACCCATGCAGGGC 0.587 NA Hepatic_Adenoma_Familial_Clustering_of 6 38 0 0 0 0 OASL 8638 broad.mit.edu 37 12 121461833 121461833 + Missense_Mutation SNP T T C TCGA-BA-5556-01A-01D-1512-08 TCGA-BA-5556-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d31fda32-363b-44e4-8f2c-834a66f46b87 39b1a5f5-ffcd-4af3-8a6f-3c71f1496df7 g.chr12:121461833T>C uc001tzj.1 - 5 1013 c.1007A>G c.(1006-1008)TAT>TGT p.Y336C OASL_uc001tzk.1_Silent_p.L255L NM_003733 NP_003724 Q15646 OASL_HUMAN 2'-5'-oligoadenylate synthetase-like isoform a 336 interferon-gamma-mediated signaling pathway|type I interferon-mediated signaling pathway cytoplasm|nucleolus ATP binding|DNA binding|double-stranded RNA binding|thyroid hormone receptor binding|transferase activity skin(1) 1 all_neural(191;0.0684)|Medulloblastoma(191;0.0922) CCTGTTGTCATAGCAACAGTC 0.557 NA 5 102 0 0 0 0 MIPEP 4285 broad.mit.edu 37 13 24460635 24460635 + Missense_Mutation SNP C C T TCGA-BA-5556-01A-01D-1512-08 TCGA-BA-5556-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d31fda32-363b-44e4-8f2c-834a66f46b87 39b1a5f5-ffcd-4af3-8a6f-3c71f1496df7 g.chr13:24460635C>T uc001uox.3 - 2 300 c.200G>A c.(199-201)GGA>GAA p.G67E PCOTH_uc001uoy.2_5'Flank|PCOTH_uc009zzx.2_5'Flank NM_005932 NP_005923 Q99797 MIPEP_HUMAN mitochondrial intermediate peptidase precursor 67 protein processing involved in protein targeting to mitochondrion|proteolysis mitochondrial matrix metal ion binding|metalloendopeptidase activity central_nervous_system(1) 1 all_cancers(29;1.83e-22)|all_epithelial(30;8.75e-19)|all_lung(29;9.17e-18)|Lung SC(185;0.0225)|Breast(139;0.14) all cancers(112;0.00389)|Epithelial(112;0.0266)|OV - Ovarian serous cystadenocarcinoma(117;0.0717)|Lung(94;0.207)|GBM - Glioblastoma multiforme(144;0.232) CTCAGGAACTCCAAAAAGACC 0.373 NA 25 120 0 0 0 0 ATP12A 479 broad.mit.edu 37 13 25276139 25276139 + Missense_Mutation SNP T T C TCGA-BA-5556-01A-01D-1512-08 TCGA-BA-5556-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d31fda32-363b-44e4-8f2c-834a66f46b87 39b1a5f5-ffcd-4af3-8a6f-3c71f1496df7 g.chr13:25276139T>C uc001upp.2 + 14 2135 c.1948T>C c.(1948-1950)TCA>CCA p.S650P ATP12A_uc010aaa.2_Missense_Mutation_p.S656P NM_001676 NP_001667 P54707 AT12A_HUMAN hydrogen/potassium-exchanging ATPase 12A 650 Cytoplasmic (Potential). ATP biosynthetic process hydrogen:potassium-exchanging ATPase complex ATP binding|hydrogen:potassium-exchanging ATPase activity|metal ion binding ovary(2)|central_nervous_system(2)|large_intestine(1)|breast(1) 6 Lung SC(185;0.0225)|Breast(139;0.077) all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228) Esomeprazole(DB00736)|Pantoprazole(DB00213) GGGGATCATTTCAGCCAACAG 0.458 NA 22 131 0 0 0 0 FRY 10129 broad.mit.edu 37 13 32841345 32841345 + Missense_Mutation SNP C C T TCGA-BA-5556-01A-01D-1512-08 TCGA-BA-5556-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d31fda32-363b-44e4-8f2c-834a66f46b87 39b1a5f5-ffcd-4af3-8a6f-3c71f1496df7 g.chr13:32841345C>T uc001utx.2 + 55 8481 c.7985C>T c.(7984-7986)TCG>TTG p.S2662L FRY_uc010tdw.1_RNA|FRY_uc001uty.2_Missense_Mutation_p.S217L|FRY_uc001utz.2_Missense_Mutation_p.S187L|FRY_uc010tdx.1_Missense_Mutation_p.S32L NM_023037 NP_075463 Q5TBA9 FRY_HUMAN furry homolog 2662 regulation of transcription, DNA-dependent|transcription, DNA-dependent integral to membrane ovary(5)|large_intestine(1)|skin(1) 7 Lung SC(185;0.0271) all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104) CCCCCTCCCTCGCCCTTCTTC 0.537 NA 47 230 0 0 0 0 LRCH1 23143 broad.mit.edu 37 13 47260079 47260079 + Missense_Mutation SNP G G C TCGA-BA-5556-01A-01D-1512-08 TCGA-BA-5556-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d31fda32-363b-44e4-8f2c-834a66f46b87 39b1a5f5-ffcd-4af3-8a6f-3c71f1496df7 g.chr13:47260079G>C uc001vbj.2 + 5 961 c.725G>C c.(724-726)TGC>TCC p.C242S LRCH1_uc010acp.2_Missense_Mutation_p.C242S|LRCH1_uc001vbk.2_Missense_Mutation_p.C242S|LRCH1_uc001vbl.3_Missense_Mutation_p.C242S NM_015116 NP_055931 Q9Y2L9 LRCH1_HUMAN leucine-rich repeats and calponin homology (CH) 242 LRR 7. ovary(1)|central_nervous_system(1) 2 all_lung(13;5.61e-07)|Lung NSC(96;0.000117)|Breast(56;0.000141)|Prostate(109;0.0029)|Lung SC(185;0.0367)|Myeloproliferative disorder(33;0.0505)|Hepatocellular(98;0.0556) KIRC - Kidney renal clear cell carcinoma(16;0.234) GBM - Glioblastoma multiforme(144;0.000123) GACTTTTCCTGCAACAAAGTG 0.323 NA 7 55 0 0 0 0 WDFY2 115825 broad.mit.edu 37 13 52313218 52313218 + Missense_Mutation SNP A A T TCGA-BA-5556-01A-01D-1512-08 TCGA-BA-5556-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d31fda32-363b-44e4-8f2c-834a66f46b87 39b1a5f5-ffcd-4af3-8a6f-3c71f1496df7 g.chr13:52313218A>T uc001vfp.2 + 7 972 c.632A>T c.(631-633)CAG>CTG p.Q211L WDFY2_uc010ads.1_Missense_Mutation_p.Q211L|WDFY2_uc010adt.1_RNA NM_052950 NP_443182 Q96P53 WDFY2_HUMAN WD repeat and FYVE domain containing 2 211 WD 5. metal ion binding 0 Breast(56;0.000208)|Lung NSC(96;0.000517)|Prostate(109;0.0041)|Hepatocellular(98;0.0652)|Myeloproliferative disorder(33;0.164)|all_neural(104;0.191) GBM - Glioblastoma multiforme(99;9e-08) GACCCAGTCCAGCGGGTGTTG 0.512 NA 43 215 0 0 0 0 SLITRK5 26050 broad.mit.edu 37 13 88329623 88329623 + Silent SNP G G A TCGA-BA-5556-01A-01D-1512-08 TCGA-BA-5556-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d31fda32-363b-44e4-8f2c-834a66f46b87 39b1a5f5-ffcd-4af3-8a6f-3c71f1496df7 g.chr13:88329623G>A uc001vln.2 + 2 2199 c.1980G>A c.(1978-1980)TCG>TCA p.S660S SLITRK5_uc010tic.1_Silent_p.S419S NM_015567 NP_056382 O94991 SLIK5_HUMAN SLIT and NTRK-like family, member 5 precursor 660 Extracellular (Potential). integral to membrane ovary(2)|pancreas(2)|central_nervous_system(1) 5 all_neural(89;0.101)|Medulloblastoma(90;0.163) GGGCGTCGTCGGTGCCCTTGT 0.642 NA 7 51 0 0 0 0 GPC6 10082 broad.mit.edu 37 13 94482798 94482798 + Missense_Mutation SNP G G T TCGA-BA-5556-01A-01D-1512-08 TCGA-BA-5556-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d31fda32-363b-44e4-8f2c-834a66f46b87 39b1a5f5-ffcd-4af3-8a6f-3c71f1496df7 g.chr13:94482798G>T uc001vlt.2 + 3 1343 c.711G>T c.(709-711)AAG>AAT p.K237N GPC6_uc010tig.1_Missense_Mutation_p.K237N|GPC6_uc001vlu.1_Missense_Mutation_p.K167N NM_005708 NP_005699 Q9Y625 GPC6_HUMAN glypican 6 precursor 237 anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix heparan sulfate proteoglycan binding 0 all_neural(89;0.0684)|Medulloblastoma(90;0.163) all_cancers(2;5.48e-07)|all_epithelial(2;5.69e-08)|all_lung(2;2.19e-05)|Lung NSC(4;6.09e-05)|Breast(118;0.0395)|Renal(2;0.0568)|Hepatocellular(115;0.217) GAGTTTCCAAGGTAATTGAAA 0.398 NA 9 61 1.13e-05 1.23e-05 1 0 SLC10A2 6555 broad.mit.edu 37 13 103710731 103710731 + Missense_Mutation SNP C C T rs150843319 by1000genomes TCGA-BA-5556-01A-01D-1512-08 TCGA-BA-5556-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d31fda32-363b-44e4-8f2c-834a66f46b87 39b1a5f5-ffcd-4af3-8a6f-3c71f1496df7 g.chr13:103710731C>T uc001vpy.3 - 2 976 c.379G>A c.(379-381)GTC>ATC p.V127I NM_000452 NP_000443 Q12908 NTCP2_HUMAN solute carrier family 10 (sodium/bile acid 127 Helical; (Potential). bile acid metabolic process|organic anion transport integral to plasma membrane bile acid:sodium symporter activity ovary(3)|skin(1) 4 all_neural(89;0.0662)|Medulloblastoma(90;0.163)|Lung SC(71;0.211) GTCATGCTGACGCTGAAAGGC 0.408 NA 14 84 0 0 0 0 REM2 161253 broad.mit.edu 37 14 23355326 23355326 + Missense_Mutation SNP A A G TCGA-BA-5556-01A-01D-1512-08 TCGA-BA-5556-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d31fda32-363b-44e4-8f2c-834a66f46b87 39b1a5f5-ffcd-4af3-8a6f-3c71f1496df7 g.chr14:23355326A>G uc001whf.1 + 4 678 c.613A>G c.(613-615)AAA>GAA p.K205E REM2_uc010tnd.1_Missense_Mutation_p.Q172R NM_173527 NP_775798 Q8IYK8 REM2_HUMAN rad and gem related GTP binding protein 2 205 regulation of transcription, DNA-dependent|small GTPase mediated signal transduction intracellular|plasma membrane ATP binding|GTP binding|transcription factor binding large_intestine(1)|central_nervous_system(1) 2 all_cancers(95;4.69e-05) GBM - Glioblastoma multiforme(265;0.012) GAGTTTCTCCAAAGTTCCAGA 0.627 NA 13 73 0 0 0 0 JUB 84962 broad.mit.edu 37 14 23444270 23444270 + Missense_Mutation SNP C C T TCGA-BA-5556-01A-01D-1512-08 TCGA-BA-5556-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d31fda32-363b-44e4-8f2c-834a66f46b87 39b1a5f5-ffcd-4af3-8a6f-3c71f1496df7 g.chr14:23444270C>T uc001whz.2 - 5 1659 c.1283G>A c.(1282-1284)CGA>CAA p.R428Q JUB_uc001why.2_Missense_Mutation_p.R11Q NM_032876 NP_116265 Q96IF1 JUB_HUMAN ajuba isoform 1 428 LIM zinc-binding 2. cell cycle|gene silencing by miRNA|positive regulation of protein complex assembly cell-cell junction|cytoplasmic mRNA processing body|microtubule organizing center alpha-catenin binding|zinc ion binding 0 all_cancers(95;4.6e-05) GBM - Glioblastoma multiforme(265;0.0122) AACAATGCATCGGAAACAGCC 0.532 NA 5 106 0 0 0 0 CDKL1 8814 broad.mit.edu 37 14 50863888 50863888 + Silent SNP A A T TCGA-BA-5556-01A-01D-1512-08 TCGA-BA-5556-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d31fda32-363b-44e4-8f2c-834a66f46b87 39b1a5f5-ffcd-4af3-8a6f-3c71f1496df7 g.chr14:50863888A>T uc010anu.1 - 4 402 c.402T>A c.(400-402)GCT>GCA p.A134A CDKL1_uc001wxz.2_5'Flank NM_004196 NP_004187 Q00532 CDKL1_HUMAN cyclin-dependent kinase-like 1 Error:Variant_position_missing_in_Q00532_after_alignment cytoplasm|nucleus ATP binding|cyclin-dependent protein kinase activity ovary(1)|stomach(1) 2 all_epithelial(31;0.000746)|Breast(41;0.0102) CTGCGCTAGGAGCCCCTCCTG 0.602 NA 5 45 0 0 0 0 RDH12 145226 broad.mit.edu 37 14 68191267 68191267 + Missense_Mutation SNP C C T rs28940314 TCGA-BA-5556-01A-01D-1512-08 TCGA-BA-5556-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d31fda32-363b-44e4-8f2c-834a66f46b87 39b1a5f5-ffcd-4af3-8a6f-3c71f1496df7 g.chr14:68191267C>T uc001xjz.3 + 4 470 c.146C>T c.(145-147)ACG>ATG p.T49M NM_152443 NP_689656 Q96NR8 RDH12_HUMAN retinol dehydrogenase 12 49 NADP (By similarity). photoreceptor cell maintenance|response to stimulus|retinol metabolic process intracellular binding|retinol dehydrogenase activity ovary(1) 1 all cancers(60;0.000704)|OV - Ovarian serous cystadenocarcinoma(108;0.00161)|BRCA - Breast invasive adenocarcinoma(234;0.00953) Vitamin A(DB00162) GGCGCCAACACGGGCATTGGC 0.557 NA 19 72 0 0 0 0 C14orf118 55668 broad.mit.edu 37 14 76642983 76642983 + Silent SNP T T G TCGA-BA-5556-01A-01D-1512-08 TCGA-BA-5556-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d31fda32-363b-44e4-8f2c-834a66f46b87 39b1a5f5-ffcd-4af3-8a6f-3c71f1496df7 g.chr14:76642983T>G uc001xsh.2 + 6 1088 c.1002T>G c.(1000-1002)ACT>ACG p.T334T C14orf118_uc001xsi.2_Silent_p.T334T|C14orf118_uc001xsj.1_3'UTR|C14orf118_uc001xsk.1_3'UTR|C14orf118_uc001xsl.2_RNA NM_017926 NP_060396 Q9NWQ4 CN118_HUMAN hypothetical protein LOC55668 isoform 1 334 ovary(2)|skin(1) 3 BRCA - Breast invasive adenocarcinoma(234;0.0172) GCATAAACACTTTGGGGACTG 0.413 NA 27 152 0 0 0 0 PPP4R4 57718 broad.mit.edu 37 14 94711996 94711996 + Nonsense_Mutation SNP C C T TCGA-BA-5556-01A-01D-1512-08 TCGA-BA-5556-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d31fda32-363b-44e4-8f2c-834a66f46b87 39b1a5f5-ffcd-4af3-8a6f-3c71f1496df7 g.chr14:94711996C>T uc001ycs.1 + 13 1571 c.1417C>T c.(1417-1419)CAA>TAA p.Q473* NM_058237 NP_478144 Q6NUP7 PP4R4_HUMAN HEAT-like repeat-containing protein isoform 1 473 cytoplasm|protein serine/threonine phosphatase complex protein binding skin(3)|upper_aerodigestive_tract(1) 4 AAGCAGTGTTCAAGAAAATAA 0.249 NA 25 148 0 0 0 0 C15orf2 23742 broad.mit.edu 37 15 24923846 24923846 + Silent SNP T T C TCGA-BA-5556-01A-01D-1512-08 TCGA-BA-5556-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d31fda32-363b-44e4-8f2c-834a66f46b87 39b1a5f5-ffcd-4af3-8a6f-3c71f1496df7 g.chr15:24923846T>C uc001ywo.2 + 1 3306 c.2832T>C c.(2830-2832)GGT>GGC p.G944G NM_018958 NP_061831 Q9NZP6 CO002_HUMAN hypothetical protein LOC23742 944 cell differentiation|multicellular organismal development|spermatogenesis ovary(2)|large_intestine(2)|skin(2)|kidney(1)|central_nervous_system(1) 8 all_cancers(20;2.14e-21)|all_epithelial(15;4.77e-19)|Lung NSC(15;1.43e-14)|all_lung(15;9.57e-14)|Breast(32;0.00086) all cancers(64;3.19e-24)|Epithelial(43;2.67e-17)|GBM - Glioblastoma multiforme(186;7.36e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000273)|Lung(196;0.229) TTCCACCAGGTTTTGCAGAGT 0.483 NA 24 108 0 0 0 0 MTMR15 22909 broad.mit.edu 37 15 31229329 31229329 + Missense_Mutation SNP A A G TCGA-BA-5556-01A-01D-1512-08 TCGA-BA-5556-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d31fda32-363b-44e4-8f2c-834a66f46b87 39b1a5f5-ffcd-4af3-8a6f-3c71f1496df7 g.chr15:31229329A>G uc001zff.2 + 14 3215 c.2924A>G c.(2923-2925)GAA>GGA p.E975G MTMR15_uc001zfe.2_Missense_Mutation_p.E580G NM_014967 NP_055782 Q9Y2M0 FAN1_HUMAN myotubularin related protein 15 isoform a 975 VRR-NUC. E->A: Loss of nuclease activity; when associated with A-864; A-960 and A-977. double-strand break repair via homologous recombination|nucleotide-excision repair, DNA incision nucleus 5'-3' exonuclease activity|5'-flap endonuclease activity|DNA binding|magnesium ion binding|phosphodiesterase I activity|ubiquitin binding 0 all_lung(180;2.23e-09) all cancers(64;4.72e-15)|Epithelial(43;5.4e-11)|GBM - Glioblastoma multiforme(186;0.000136)|BRCA - Breast invasive adenocarcinoma(123;0.00402)|Lung(196;0.168) CAGCTGGTGGAAGTTAAAGGC 0.398 NA Direct_reversal_of_damage|Editing_and_processing_nucleases 14 134 0 0 0 0 RYR3 6263 broad.mit.edu 37 15 34040349 34040349 + Missense_Mutation SNP C C G TCGA-BA-5556-01A-01D-1512-08 TCGA-BA-5556-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d31fda32-363b-44e4-8f2c-834a66f46b87 39b1a5f5-ffcd-4af3-8a6f-3c71f1496df7 g.chr15:34040349C>G uc001zhi.2 + 54 8094 c.8024C>G c.(8023-8025)TCC>TGC p.S2675C RYR3_uc010bar.2_Missense_Mutation_p.S2675C NM_001036 NP_001027 Q15413 RYR3_HUMAN ryanodine receptor 3 2675 3.|Cytoplasmic (By similarity).|4 X approximate repeats. cellular calcium ion homeostasis integral to membrane calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity ovary(5)|central_nervous_system(4)|lung(1) 10 all_lung(180;7.18e-09) all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363) GCGCGAGAGTCCCTGAAAACC 0.527 NA 16 99 0 0 0 0 TYRO3 7301 broad.mit.edu 37 15 41870164 41870164 + Missense_Mutation SNP A A T TCGA-BA-5556-01A-01D-1512-08 TCGA-BA-5556-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d31fda32-363b-44e4-8f2c-834a66f46b87 39b1a5f5-ffcd-4af3-8a6f-3c71f1496df7 g.chr15:41870164A>T uc001zof.1 + 19 2587 c.2363A>T c.(2362-2364)AAC>ATC p.N788I NM_006293 NP_006284 Q06418 TYRO3_HUMAN TYRO3 protein tyrosine kinase precursor 788 Protein kinase.|Cytoplasmic (Potential). integral to plasma membrane ATP binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity ovary(3)|lung(2)|central_nervous_system(1) 6 all_cancers(109;7.33e-15)|all_epithelial(112;2.8e-12)|Lung NSC(122;3.48e-08)|all_lung(180;1.71e-07)|Melanoma(134;0.0262) OV - Ovarian serous cystadenocarcinoma(18;3.31e-18)|GBM - Glioblastoma multiforme(113;9.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.117) GAACTGGAGAACATCTTGGGC 0.572 NA 9 102 0 0 0 0 DMXL2 23312 broad.mit.edu 37 15 51806663 51806663 + Missense_Mutation SNP C C G TCGA-BA-5556-01A-01D-1512-08 TCGA-BA-5556-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d31fda32-363b-44e4-8f2c-834a66f46b87 39b1a5f5-ffcd-4af3-8a6f-3c71f1496df7 g.chr15:51806663C>G uc002abf.2 - 15 2845 c.2620G>C c.(2620-2622)GAA>CAA p.E874Q DMXL2_uc010ufy.1_Missense_Mutation_p.E874Q|DMXL2_uc010bfa.2_Missense_Mutation_p.E874Q NM_015263 NP_056078 Q8TDJ6 DMXL2_HUMAN Dmx-like 2 874 cell junction|synaptic vesicle membrane Rab GTPase binding ovary(6)|skin(3) 9 all cancers(107;0.00494) AAAAATATTTCTGTTTCCTTT 0.318 NA 32 213 0 0 0 0 ANPEP 290 broad.mit.edu 37 15 90328694 90328694 + Silent SNP G G A rs145116014 TCGA-BA-5556-01A-01D-1512-08 TCGA-BA-5556-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d31fda32-363b-44e4-8f2c-834a66f46b87 39b1a5f5-ffcd-4af3-8a6f-3c71f1496df7 g.chr15:90328694G>A uc002bop.3 - 21 3082 c.2790C>T c.(2788-2790)TTC>TTT p.F930F NM_001150 NP_001141 P15144 AMPN_HUMAN membrane alanine aminopeptidase precursor 930 Extracellular.|Metalloprotease. angiogenesis|cell differentiation|interspecies interaction between organisms cytosol|ER-Golgi intermediate compartment|integral to plasma membrane aminopeptidase activity|metallopeptidase activity|receptor activity|zinc ion binding ovary(3)|skin(1) 4 Lung NSC(78;0.0221)|all_lung(78;0.0448) BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.169) Ezetimibe(DB00973) TGCCTGAGCCGAAGCCTGTTT 0.562 NA 14 212 0 0 0 0 ZSCAN10 84891 broad.mit.edu 37 16 3140386 3140386 + Missense_Mutation SNP G G A TCGA-BA-5556-01A-01D-1512-08 TCGA-BA-5556-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d31fda32-363b-44e4-8f2c-834a66f46b87 39b1a5f5-ffcd-4af3-8a6f-3c71f1496df7 g.chr16:3140386G>A uc002ctv.1 - 5 972 c.884C>T c.(883-885)GCG>GTG p.A295V ZSCAN10_uc002cty.1_5'UTR|ZSCAN10_uc002ctw.1_Missense_Mutation_p.A213V|ZSCAN10_uc002ctx.1_Missense_Mutation_p.A223V NM_032805 NP_116194 Q96SZ4 ZSC10_HUMAN zinc finger and SCAN domain containing 10 295 C2H2-type 1. negative regulation of transcription, DNA-dependent|viral reproduction nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1) 1 CCCGCAGTCCGCGCAGATGAA 0.637 NA 7 129 0 0 0 0 MON1B 22879 broad.mit.edu 37 16 77229463 77229463 + Missense_Mutation SNP G G C TCGA-BA-5556-01A-01D-1512-08 TCGA-BA-5556-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d31fda32-363b-44e4-8f2c-834a66f46b87 39b1a5f5-ffcd-4af3-8a6f-3c71f1496df7 g.chr16:77229463G>C uc002fez.2 + 5 1657 c.1327G>C c.(1327-1329)GAG>CAG p.E443Q MON1B_uc010vnf.1_Missense_Mutation_p.E334Q|MON1B_uc010vng.1_Missense_Mutation_p.E297Q|MON1B_uc002ffa.2_Missense_Mutation_p.E323Q NM_014940 NP_055755 Q7L1V2 MON1B_HUMAN MON1 homolog B 443 protein binding 0 CAGCAGAGAGGAGGAGCGGCA 0.632 NA 5 24 0 0 0 0 SLC38A8 146167 broad.mit.edu 37 16 84050761 84050761 + Missense_Mutation SNP C C T TCGA-BA-5556-01A-01D-1512-08 TCGA-BA-5556-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d31fda32-363b-44e4-8f2c-834a66f46b87 39b1a5f5-ffcd-4af3-8a6f-3c71f1496df7 g.chr16:84050761C>T uc002fhg.1 - 7 937 c.937G>A c.(937-939)GTG>ATG p.V313M NM_001080442 NP_001073911 A6NNN8 S38A8_HUMAN solute carrier family 38, member 8 313 Helical; (Potential). amino acid transport|sodium ion transport integral to membrane 0 AGGAAGAGCACGATGGGGTAG 0.522 NA 10 56 0 0 0 0 PRDM7 11105 broad.mit.edu 37 16 90133294 90133294 + Missense_Mutation SNP C C T TCGA-BA-5556-01A-01D-1512-08 TCGA-BA-5556-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d31fda32-363b-44e4-8f2c-834a66f46b87 39b1a5f5-ffcd-4af3-8a6f-3c71f1496df7 g.chr16:90133294C>T uc010cje.2 - 4 346 c.326G>A c.(325-327)AGA>AAA p.R109K PRDM7_uc010cjf.2_Intron|PRDM7_uc010cjh.1_RNA NM_001098173 NP_001091643 Q9NQW5 PRDM7_HUMAN PR domain containing 7 isoform 1 109 chromosome|nucleus nucleic acid binding ovary(1) 1 all_cancers(9;4.44e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.00118)|all_hematologic(23;0.0194) BRCA - Breast invasive adenocarcinoma(80;0.0278) CTGTTCTCCTCTGAAGGCCAT 0.373 NA 46 281 0 0 0 0 RPH3AL 9501 broad.mit.edu 37 17 169309 169309 + Missense_Mutation SNP G G A TCGA-BA-5556-01A-01D-1512-08 TCGA-BA-5556-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d31fda32-363b-44e4-8f2c-834a66f46b87 39b1a5f5-ffcd-4af3-8a6f-3c71f1496df7 g.chr17:169309G>A uc002frd.1 - 3 297 c.253C>T c.(253-255)CGG>TGG p.R85W RPH3AL_uc010vpy.1_Missense_Mutation_p.R85W|RPH3AL_uc002fre.1_Missense_Mutation_p.R85W|RPH3AL_uc002frf.1_Missense_Mutation_p.R85W|RPH3AL_uc010cjl.1_Missense_Mutation_p.R85W NM_006987 NP_008918 Q9UNE2 RPH3L_HUMAN rabphilin 3A-like (without C2 domains) 85 RabBD. R -> Q (in Ref. 4; AAH05153). exocytosis|intracellular protein transport transport vesicle membrane cytoskeletal protein binding|Rab GTPase binding|zinc ion binding skin(1) 1 UCEC - Uterine corpus endometrioid carcinoma (25;0.023)|all cancers(1;4.96e-06)|Epithelial(1;2.86e-05)|BRCA - Breast invasive adenocarcinoma(1;0.00453)|OV - Ovarian serous cystadenocarcinoma(1;0.0716)|LUAD - Lung adenocarcinoma(1115;0.102)|COAD - Colon adenocarcinoma(4;0.107) ATCACATTCCGCCTCATGGTC 0.632 NA 5 40 0 0 0 0 TOM1L2 146691 broad.mit.edu 37 17 17788024 17788024 + Missense_Mutation SNP T T A TCGA-BA-5556-01A-01D-1512-08 TCGA-BA-5556-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d31fda32-363b-44e4-8f2c-834a66f46b87 39b1a5f5-ffcd-4af3-8a6f-3c71f1496df7 g.chr17:17788024T>A uc002grz.3 - 5 582 c.425A>T c.(424-426)GAG>GTG p.E142V TOM1L2_uc002gry.3_Missense_Mutation_p.E92V|TOM1L2_uc010vwy.1_Missense_Mutation_p.E142V|TOM1L2_uc010cpr.2_Intron|TOM1L2_uc010vwz.1_Intron|TOM1L2_uc010vxa.1_Intron|TOM1L2_uc010vxb.1_Missense_Mutation_p.E92V NM_001082968 NP_001076437 Q6ZVM7 TM1L2_HUMAN target of myb1-like 2 isoform 3 142 VHS. intracellular protein transport intracellular 0 all_neural(463;0.228) CTTCAGCTCCTCATATATGTG 0.517 NA 23 207 0 0 0 0 ABHD15 116236 broad.mit.edu 37 17 27893561 27893561 + Missense_Mutation SNP C C G TCGA-BA-5556-01A-01D-1512-08 TCGA-BA-5556-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d31fda32-363b-44e4-8f2c-834a66f46b87 39b1a5f5-ffcd-4af3-8a6f-3c71f1496df7 g.chr17:27893561C>G uc002hed.1 - 1 488 c.424G>C c.(424-426)GGA>CGA p.G142R TP53I13_uc002hee.2_5'Flank NM_198147 NP_937790 Q6UXT9 ABH15_HUMAN abhydrolase domain containing 15 precursor 142 extracellular region carboxylesterase activity 0 ACACAAGGTCCTACCACCCAG 0.687 NA 3 28 0 0 0 0 WIPF2 147179 broad.mit.edu 37 17 38421105 38421105 + Missense_Mutation SNP C C T TCGA-BA-5556-01A-01D-1512-08 TCGA-BA-5556-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d31fda32-363b-44e4-8f2c-834a66f46b87 39b1a5f5-ffcd-4af3-8a6f-3c71f1496df7 g.chr17:38421105C>T uc002hug.1 + 5 917 c.677C>T c.(676-678)GCT>GTT p.A226V WIPF2_uc002huh.1_Missense_Mutation_p.A76V|WIPF2_uc010cww.1_Missense_Mutation_p.A76V|WIPF2_uc002hui.1_Missense_Mutation_p.A226V|WIPF2_uc010cwx.1_Intron|WIPF2_uc010cwy.1_Missense_Mutation_p.A226V NM_133264 NP_573571 Q8TF74 WIPF2_HUMAN WIRE protein 226 cytoplasm|cytoskeleton actin binding upper_aerodigestive_tract(1)|ovary(1)|pancreas(1) 3 GGACCTCCTGCTCCACCCCCA 0.607 NA HNSCC(43;0.11) 29 213 0 0 0 0 KIAA1267 284058 broad.mit.edu 37 17 44109631 44109631 + Nonsense_Mutation SNP G G A rs147378906 TCGA-BA-5556-01A-01D-1512-08 TCGA-BA-5556-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d31fda32-363b-44e4-8f2c-834a66f46b87 39b1a5f5-ffcd-4af3-8a6f-3c71f1496df7 g.chr17:44109631G>A uc002ikb.2 - 13 2957 c.2872C>T c.(2872-2874)CAG>TAG p.Q958* KIAA1267_uc002ikc.2_Nonsense_Mutation_p.Q958*|KIAA1267_uc002ikd.2_Nonsense_Mutation_p.Q958*|KIAA1267_uc010dav.2_Nonsense_Mutation_p.Q957*|KIAA1267_uc010wkb.1_Nonsense_Mutation_p.Q289*|KIAA1267_uc010wkc.1_Nonsense_Mutation_p.Q226* NM_015443 NP_056258 Q7Z3B3 K1267_HUMAN hypothetical protein LOC284058 958 MLL1 complex protein binding skin(2) 2 Melanoma(429;0.211) CTGCCCAGCTGGGGGGTTGTC 0.577 NA 11 76 0 0 0 0 ANKFN1 162282 broad.mit.edu 37 17 54230890 54230890 + Missense_Mutation SNP G G A TCGA-BA-5556-01A-01D-1512-08 TCGA-BA-5556-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d31fda32-363b-44e4-8f2c-834a66f46b87 39b1a5f5-ffcd-4af3-8a6f-3c71f1496df7 g.chr17:54230890G>A uc002iun.1 + 1 55 c.20G>A c.(19-21)AGG>AAG p.R7K NM_153228 NP_694960 Q8N957 ANKF1_HUMAN ankyrin-repeat and fibronectin type III domain 7 large_intestine(1)|ovary(1) 2 TCTCTAACCAGGGTAGGAAAA 0.488 NA 11 112 0 0 0 0 TRIM37 4591 broad.mit.edu 37 17 57181722 57181722 + Missense_Mutation SNP T T C TCGA-BA-5556-01A-01D-1512-08 TCGA-BA-5556-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d31fda32-363b-44e4-8f2c-834a66f46b87 39b1a5f5-ffcd-4af3-8a6f-3c71f1496df7 g.chr17:57181722T>C uc002iwy.3 - 2 499 c.55A>G c.(55-57)ATG>GTG p.M19V TRIM37_uc002iwz.3_Missense_Mutation_p.M19V|TRIM37_uc002ixa.3_5'UTR|TRIM37_uc010woc.1_Intron|uc002ixb.2_5'Flank NM_001005207 NP_001005207 O94972 TRI37_HUMAN tripartite motif-containing 37 protein 19 RING-type; degenerate. perinuclear region of cytoplasm|peroxisome ligase activity|protein binding|zinc ion binding lung(2)|pancreas(2)|ovary(1)|skin(1)|breast(1) 7 Medulloblastoma(34;0.0922)|all_neural(34;0.101) AATTTCTCCATACAAATGAAA 0.408 NA Mulibrey_Nanism 15 92 0 0 0 0 MED13 9969 broad.mit.edu 37 17 60050211 60050211 + Missense_Mutation SNP G G A TCGA-BA-5556-01A-01D-1512-08 TCGA-BA-5556-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d31fda32-363b-44e4-8f2c-834a66f46b87 39b1a5f5-ffcd-4af3-8a6f-3c71f1496df7 g.chr17:60050211G>A uc002izo.2 - 17 3921 c.3844C>T c.(3844-3846)CTC>TTC p.L1282F NM_005121 NP_005112 Q9UHV7 MED13_HUMAN mediator complex subunit 13 1282 LXXLL motif 2. androgen 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|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding large_intestine(1)|ovary(1) 2 AGAGAGAGGAGCATTCGAAGT 0.373 NA 60 249 0 0 0 0 TLK2 11011 broad.mit.edu 37 17 60678092 60678092 + Missense_Mutation SNP A A G TCGA-BA-5556-01A-01D-1512-08 TCGA-BA-5556-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d31fda32-363b-44e4-8f2c-834a66f46b87 39b1a5f5-ffcd-4af3-8a6f-3c71f1496df7 g.chr17:60678092A>G uc010ddp.2 + 19 1965 c.1697A>G c.(1696-1698)GAG>GGG p.E566G TLK2_uc002izx.3_Missense_Mutation_p.E392G|TLK2_uc002izz.3_Missense_Mutation_p.E544G|TLK2_uc002jaa.3_Missense_Mutation_p.E512G|TLK2_uc010wpd.1_Missense_Mutation_p.E512G NM_006852 NP_006843 Q86UE8 TLK2_HUMAN tousled-like kinase 2 isoform A 566 Protein kinase. cell cycle|chromatin modification|intracellular signal transduction|regulation of chromatin assembly or disassembly|response to DNA damage stimulus nucleus ATP binding|protein binding|protein serine/threonine kinase activity stomach(1)|kidney(1) 2 TCGGAGAAAGAGGCCCGGTCC 0.368 NA 19 97 0 0 0 0 ABCA10 10349 broad.mit.edu 37 17 67197795 67197795 + Missense_Mutation SNP C C T TCGA-BA-5556-01A-01D-1512-08 TCGA-BA-5556-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d31fda32-363b-44e4-8f2c-834a66f46b87 39b1a5f5-ffcd-4af3-8a6f-3c71f1496df7 g.chr17:67197795C>T uc010dfa.1 - 11 1900 c.1021G>A c.(1021-1023)GGG>AGG p.G341R ABCA10_uc010wqt.1_RNA|ABCA10_uc010dfb.1_5'UTR|ABCA10_uc010dfc.1_Intron NM_080282 NP_525021 Q8WWZ4 ABCAA_HUMAN ATP-binding cassette, sub-family A, member 10 341 transport integral to membrane ATP binding|ATPase activity ovary(2)|central_nervous_system(1)|skin(1) 4 Breast(10;6.95e-12) GGAGAATCCCCATGGCCATCT 0.313 NA 6 75 0 0 0 0 RFNG 5986 broad.mit.edu 37 17 80006664 80006664 + Missense_Mutation SNP G G A TCGA-BA-5556-01A-01D-1512-08 TCGA-BA-5556-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d31fda32-363b-44e4-8f2c-834a66f46b87 39b1a5f5-ffcd-4af3-8a6f-3c71f1496df7 g.chr17:80006664G>A uc002kdj.2 - 8 942 c.934C>T c.(934-936)CTT>TTT p.L312F RFNG_uc002kdh.2_Missense_Mutation_p.L97F NM_002917 NP_002908 Q9Y644 RFNG_HUMAN radical fringe 312 Lumenal (Potential). cell differentiation|nervous system development|organ morphogenesis|pattern specification process extracellular region|integral to Golgi membrane O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase activity central_nervous_system(1) 1 all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246) BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0211) GGGTACAGAAGACAATGGATA 0.408 NA 7 81 0 0 0 0 CDH19 28513 broad.mit.edu 37 18 64239419 64239419 + Missense_Mutation SNP C C T TCGA-BA-5556-01A-01D-1512-08 TCGA-BA-5556-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d31fda32-363b-44e4-8f2c-834a66f46b87 39b1a5f5-ffcd-4af3-8a6f-3c71f1496df7 g.chr18:64239419C>T uc002lkc.1 - 2 161 c.23G>A c.(22-24)CGT>CAT p.R8H CDH19_uc010dql.1_RNA|CDH19_uc010xey.1_Missense_Mutation_p.R8H|CDH19_uc002lkd.2_Missense_Mutation_p.R8H NM_021153 NP_066976 Q9H159 CAD19_HUMAN cadherin 19, type 2 preproprotein 8 homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(1)|skin(1) 2 Esophageal squamous(42;0.0132) CAACATAAAACGCAGCAGTAA 0.398 NA 4 99 0 0 0 0 ZNF791 163049 broad.mit.edu 37 19 12734621 12734621 + Missense_Mutation SNP C C G TCGA-BA-5556-01A-01D-1512-08 TCGA-BA-5556-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d31fda32-363b-44e4-8f2c-834a66f46b87 39b1a5f5-ffcd-4af3-8a6f-3c71f1496df7 g.chr19:12734621C>G uc002mua.2 + 2 273 c.111C>G c.(109-111)TTC>TTG p.F37L ZNF791_uc010xml.1_Missense_Mutation_p.F5L|ZNF791_uc010dyu.1_5'UTR|ZNF791_uc010xmm.1_Intron NM_153358 NP_699189 Q3KP31 ZN791_HUMAN zinc finger protein 791 37 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(2) 2 AGGAAACATTCAAGAACCTGG 0.323 NA 16 108 0 0 0 0 CPAMD8 27151 broad.mit.edu 37 19 17038893 17038893 + Missense_Mutation SNP T T C TCGA-BA-5556-01A-01D-1512-08 TCGA-BA-5556-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d31fda32-363b-44e4-8f2c-834a66f46b87 39b1a5f5-ffcd-4af3-8a6f-3c71f1496df7 g.chr19:17038893T>C uc002nfb.2 - 25 3469 c.3437A>G c.(3436-3438)TAC>TGC p.Y1146C NM_015692 NP_056507 Q8IZJ3 CPMD8_HUMAN C3 and PZP-like, alpha-2-macroglobulin domain 1099 extracellular space|plasma membrane serine-type endopeptidase inhibitor activity ovary(4)|breast(4)|large_intestine(3)|pancreas(1)|skin(1) 13 GGCCTCGCTGTAGCTCTCGTC 0.637 NA 4 91 0 0 0 0 ZNF208 7757 broad.mit.edu 37 19 22155688 22155688 + Silent SNP A A T TCGA-BA-5556-01A-01D-1512-08 TCGA-BA-5556-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d31fda32-363b-44e4-8f2c-834a66f46b87 39b1a5f5-ffcd-4af3-8a6f-3c71f1496df7 g.chr19:22155688A>T uc002nqp.2 - 5 1997 c.1848T>A c.(1846-1848)ACT>ACA p.T616T ZNF208_uc002nqo.1_Intron NM_007153 NP_009084 zinc finger protein 208 ovary(5)|skin(2) 7 all_lung(12;0.0961)|Lung NSC(12;0.103) GTTTCTCTCCAGTATGAATTC 0.373 NA 12 111 0 0 0 0 ZNF181 339318 broad.mit.edu 37 19 35231761 35231761 + Missense_Mutation SNP A A G TCGA-BA-5556-01A-01D-1512-08 TCGA-BA-5556-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d31fda32-363b-44e4-8f2c-834a66f46b87 39b1a5f5-ffcd-4af3-8a6f-3c71f1496df7 g.chr19:35231761A>G uc002nvu.3 + 4 938 c.475A>G c.(475-477)ATA>GTA p.I159V ZNF181_uc010xsa.1_Missense_Mutation_p.I158V|ZNF181_uc010xsb.1_Missense_Mutation_p.I158V|ZNF181_uc010xsc.1_Missense_Mutation_p.I94V NM_001029997 NP_001025168 Q2M3W8 ZN181_HUMAN zinc finger protein 181 isoform 1 159 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 all_lung(56;1.13e-07)|Lung NSC(56;1.81e-07)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.138) CAAATACAATATATTTAGAAG 0.373 NA 23 104 0 0 0 0 SERTAD1 29950 broad.mit.edu 37 19 40928872 40928872 + Silent SNP G G C TCGA-BA-5556-01A-01D-1512-08 TCGA-BA-5556-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d31fda32-363b-44e4-8f2c-834a66f46b87 39b1a5f5-ffcd-4af3-8a6f-3c71f1496df7 g.chr19:40928872G>C uc002ont.3 - 2 741 c.582C>G c.(580-582)CTC>CTG p.L194L NM_013376 NP_037508 Q9UHV2 SRTD1_HUMAN SERTA domain containing 1 194 positive regulation of cell proliferation|regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent 0 Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384) GGCCTGGTTTGAGGCCCTCAG 0.582 NA 6 26 0 0 0 0 SFRS16 11129 broad.mit.edu 37 19 45561107 45561107 + Silent SNP G G A rs143800882 byFrequency TCGA-BA-5556-01A-01D-1512-08 TCGA-BA-5556-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d31fda32-363b-44e4-8f2c-834a66f46b87 39b1a5f5-ffcd-4af3-8a6f-3c71f1496df7 g.chr19:45561107G>A uc002pak.2 + 7 662 c.564G>A c.(562-564)GCG>GCA p.A188A SFRS16_uc002pal.2_RNA|SFRS16_uc010xxh.1_Silent_p.A126A|SFRS16_uc002pam.2_Silent_p.A188A|SFRS16_uc002pan.1_RNA NM_007056 NP_008987 Q8N2M8 CLASR_HUMAN splicing factor, arginine/serine-rich 16 188 mRNA processing|RNA splicing nucleus 0 Ovarian(192;0.0728)|all_neural(266;0.112) OV - Ovarian serous cystadenocarcinoma(262;0.0102) AGGAGTCAGCGGCCGAGGAGG 0.612 NA 12 95 0 0 0 0 OPA3 80207 broad.mit.edu 37 19 46032622 46032622 + Silent SNP G G A TCGA-BA-5556-01A-01D-1512-08 TCGA-BA-5556-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d31fda32-363b-44e4-8f2c-834a66f46b87 39b1a5f5-ffcd-4af3-8a6f-3c71f1496df7 g.chr19:46032622G>A uc002pcj.3 - 2 335 c.235C>T c.(235-237)CTG>TTG p.L79L NM_001017989 NP_001017989 Q9H6K4 OPA3_HUMAN OPA3 protein isoform a 79 response to stimulus|visual perception mitochondrion 0 Ovarian(192;0.051)|all_neural(266;0.112) OV - Ovarian serous cystadenocarcinoma(262;0.00778)|GBM - Glioblastoma multiforme(486;0.0976)|Epithelial(262;0.242) TCCGCGCCCAGCTCGGCGGCT 0.627 NA 10 82 0 0 0 0 IGFL2 147920 broad.mit.edu 37 19 46664118 46664118 + Silent SNP C C T TCGA-BA-5556-01A-01D-1512-08 TCGA-BA-5556-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d31fda32-363b-44e4-8f2c-834a66f46b87 39b1a5f5-ffcd-4af3-8a6f-3c71f1496df7 g.chr19:46664118C>T uc010xxv.1 + 3 357 c.321C>T c.(319-321)CCC>CCT p.P107P IGFL2_uc002peb.2_Silent_p.P118P NM_001135113 NP_001128585 Q6UWQ7 IGFL2_HUMAN IGF-like family member 2 isoform b 107 extracellular region protein binding 0 Ovarian(192;0.0908)|all_neural(266;0.113) OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(486;0.031)|Epithelial(262;0.247) ACTCATCTCCCATCTCCAGTA 0.532 NA 5 129 0 0 0 0 DHX34 9704 broad.mit.edu 37 19 47865870 47865870 + Missense_Mutation SNP G G A TCGA-BA-5556-01A-01D-1512-08 TCGA-BA-5556-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d31fda32-363b-44e4-8f2c-834a66f46b87 39b1a5f5-ffcd-4af3-8a6f-3c71f1496df7 g.chr19:47865870G>A uc010xyn.1 + 6 1854 c.1513G>A c.(1513-1515)GCC>ACC p.A505T DHX34_uc010elc.1_Missense_Mutation_p.A420T NM_014681 NP_055496 Q14147 DHX34_HUMAN DEAH (Asp-Glu-Ala-His) box polypeptide 34 505 Helicase C-terminal. intracellular ATP binding|ATP-dependent helicase activity|RNA binding|zinc ion binding ovary(4)|upper_aerodigestive_tract(1) 5 all_cancers(25;1.65e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503) all cancers(93;7.16e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000489)|GBM - Glioblastoma multiforme(486;0.00413)|Epithelial(262;0.0132) CCGCCTCTATGCCGAATCGGA 0.657 NA 9 51 0 0 0 0 SLC4A1AP 22950 broad.mit.edu 37 2 27890212 27890212 + Missense_Mutation SNP A A G TCGA-BA-5556-01A-01D-1512-08 TCGA-BA-5556-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d31fda32-363b-44e4-8f2c-834a66f46b87 39b1a5f5-ffcd-4af3-8a6f-3c71f1496df7 g.chr2:27890212A>G uc002rlk.3 + 3 1381 c.1099A>G c.(1099-1101)ATA>GTA p.I367V NM_018158 NP_060628 Q9BWU0 NADAP_HUMAN solute carrier family 4 (anion exchanger), 367 cytoplasm|nucleus double-stranded RNA binding|protein binding 0 Acute lymphoblastic leukemia(172;0.155) GGCCTTTTATATAAAGGATCC 0.418 NA 26 123 0 0 0 0 SLC8A1 6546 broad.mit.edu 37 2 40656013 40656013 + Missense_Mutation SNP C C T TCGA-BA-5556-01A-01D-1512-08 TCGA-BA-5556-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d31fda32-363b-44e4-8f2c-834a66f46b87 39b1a5f5-ffcd-4af3-8a6f-3c71f1496df7 g.chr2:40656013C>T uc002rrx.2 - 1 1432 c.1408G>A c.(1408-1410)GAT>AAT p.D470N SLC8A1_uc002rry.2_Missense_Mutation_p.D470N|SLC8A1_uc002rrz.2_Missense_Mutation_p.D470N|SLC8A1_uc002rsa.2_Missense_Mutation_p.D470N|SLC8A1_uc002rsd.3_Missense_Mutation_p.D470N|SLC8A1_uc002rsb.1_Missense_Mutation_p.D470N|SLC8A1_uc010fan.1_Missense_Mutation_p.D470N|SLC8A1_uc002rsc.1_Missense_Mutation_p.D470N NM_021097 NP_066920 P32418 NAC1_HUMAN solute carrier family 8 (sodium/calcium 470 Calx-beta 1.|Cytoplasmic (Potential). cell communication|muscle contraction|platelet activation integral to plasma membrane calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding ovary(1)|kidney(1)|central_nervous_system(1)|skin(1) 4 Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159) TTCTGGGTATCACCAGGCTTA 0.408 NA 12 106 0 0 0 0 TUBA3D 113457 broad.mit.edu 37 2 132240222 132240222 + Missense_Mutation SNP C C T TCGA-BA-5556-01A-01D-1512-08 TCGA-BA-5556-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d31fda32-363b-44e4-8f2c-834a66f46b87 39b1a5f5-ffcd-4af3-8a6f-3c71f1496df7 g.chr2:132240222C>T uc002tsu.3 + 5 1261 c.1154C>T c.(1153-1155)GCG>GTG p.A385V NM_080386 NP_525125 Q13748 TBA3C_HUMAN tubulin, alpha 3d 385 'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization cytoplasm|microtubule GTP binding|GTPase activity|protein binding|structural molecule activity 0 BRCA - Breast invasive adenocarcinoma(221;0.13) ACGGCCATTGCGGAGGCCTGG 0.632 NA 18 116 0 0 0 0 LRP1B 53353 broad.mit.edu 37 2 141027862 141027862 + Missense_Mutation SNP T T C TCGA-BA-5556-01A-01D-1512-08 TCGA-BA-5556-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d31fda32-363b-44e4-8f2c-834a66f46b87 39b1a5f5-ffcd-4af3-8a6f-3c71f1496df7 g.chr2:141027862T>C uc002tvj.1 - 86 14168 c.13196A>G c.(13195-13197)TAC>TGC p.Y4399C NM_018557 NP_061027 Q9NZR2 LRP1B_HUMAN low density lipoprotein-related protein 1B 4399 Extracellular (Potential).|EGF-like 14. protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1) 50 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) GCCACCATTGTAACAGTAGCC 0.403 NA TSP Lung(27;0.18) 12 132 0 0 0 0 LRP1B 53353 broad.mit.edu 37 2 141571360 141571360 + Missense_Mutation SNP T T A TCGA-BA-5556-01A-01D-1512-08 TCGA-BA-5556-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d31fda32-363b-44e4-8f2c-834a66f46b87 39b1a5f5-ffcd-4af3-8a6f-3c71f1496df7 g.chr2:141571360T>A uc002tvj.1 - 32 6197 c.5225A>T c.(5224-5226)TAT>TTT p.Y1742F NM_018557 NP_061027 Q9NZR2 LRP1B_HUMAN low density lipoprotein-related protein 1B 1742 Extracellular (Potential).|LDL-receptor class B 16. protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1) 50 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) GTTTTCCACATAGTCTATCGA 0.348 NA TSP Lung(27;0.18) 13 109 0 0 0 0 ZC3H15 55854 broad.mit.edu 37 2 187364950 187364950 + Missense_Mutation SNP C C G TCGA-BA-5556-01A-01D-1512-08 TCGA-BA-5556-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d31fda32-363b-44e4-8f2c-834a66f46b87 39b1a5f5-ffcd-4af3-8a6f-3c71f1496df7 g.chr2:187364950C>G uc002upo.2 + 3 444 c.219C>G c.(217-219)GAC>GAG p.D73E NM_018471 NP_060941 Q8WU90 ZC3HF_HUMAN erythropoietin 4 immediate early response 73 Potential. cytoplasm|nucleolus|plasma membrane nucleic acid binding|zinc ion binding skin(1) 1 OV - Ovarian serous cystadenocarcinoma(117;0.0148)|Epithelial(96;0.0922)|all cancers(119;0.233) AGAAGGATGACAAGAAGAAAG 0.308 NA 6 51 0 0 0 0 CASP8 841 broad.mit.edu 37 2 202149860 202149860 + Nonsense_Mutation SNP C C G TCGA-BA-5556-01A-01D-1512-08 TCGA-BA-5556-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d31fda32-363b-44e4-8f2c-834a66f46b87 39b1a5f5-ffcd-4af3-8a6f-3c71f1496df7 g.chr2:202149860C>G uc002uxr.1 + 9 1333 c.1124C>G c.(1123-1125)TCA>TGA p.S375* CASP8_uc002uxp.1_Nonsense_Mutation_p.S392*|CASP8_uc002uxq.1_Nonsense_Mutation_p.S360*|CASP8_uc002uxt.1_Nonsense_Mutation_p.S434*|CASP8_uc002uxu.1_RNA|CASP8_uc002uxw.1_Nonsense_Mutation_p.S360*|CASP8_uc002uxy.1_Intron|CASP8_uc002uxx.1_Intron|CASP8_uc010ftf.2_Nonsense_Mutation_p.S291* NM_033355 NP_203519 Q14790 CASP8_HUMAN caspase 8 isoform B precursor 375 activation of caspase activity|activation of pro-apoptotic gene products|cellular component disassembly involved in apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis involved in cellular protein catabolic process|response to tumor necrosis factor centrosome|cytosol|mitochondrial outer membrane cysteine-type endopeptidase activity|protein binding|protein binding upper_aerodigestive_tract(2)|ovary(1)|breast(1)|skin(1) 5 GAGACTGATTCAGAGGAGCAA 0.448 NA HNSCC(4;0.00038) 25 112 0 0 0 0 C2orf24 27013 broad.mit.edu 37 2 220037648 220037648 + Missense_Mutation SNP C C A TCGA-BA-5556-01A-01D-1512-08 TCGA-BA-5556-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d31fda32-363b-44e4-8f2c-834a66f46b87 39b1a5f5-ffcd-4af3-8a6f-3c71f1496df7 g.chr2:220037648C>A uc002vju.3 - 8 1045 c.893G>T c.(892-894)TGC>TTC p.C298F NHEJ1_uc002vjq.3_5'Flank|SLC23A3_uc010zkr.1_5'Flank|SLC23A3_uc010zks.1_5'Flank|SLC23A3_uc010fwb.2_5'Flank|C2orf24_uc002vjv.2_Missense_Mutation_p.C298F NM_015680 NP_056495 Q9BV87 CNPD1_HUMAN hypothetical protein LOC27013 298 regulation of cyclin-dependent protein kinase activity integral to membrane protein kinase binding 0 Renal(207;0.0915) Epithelial(149;8.92e-07)|all cancers(144;0.000151)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) GCCTTCCAGGCAGCTGGAGAC 0.647 NA 17 127 2.39e-15 2.78e-15 1 0 RBL1 5933 broad.mit.edu 37 20 35684633 35684633 + Missense_Mutation SNP T T A TCGA-BA-5556-01A-01D-1512-08 TCGA-BA-5556-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d31fda32-363b-44e4-8f2c-834a66f46b87 39b1a5f5-ffcd-4af3-8a6f-3c71f1496df7 g.chr20:35684633T>A uc002xgi.2 - 10 1358 c.1279A>T c.(1279-1281)ATT>TTT p.I427F RBL1_uc010zvt.1_RNA|RBL1_uc002xgj.1_Missense_Mutation_p.I427F|RBL1_uc010gfv.1_RNA NM_002895 NP_002886 P28749 RBL1_HUMAN retinoblastoma-like protein 1 isoform a 427 Domain A.|Pocket; binds T and E1A. cell cycle|chromatin modification|interspecies interaction between organisms|regulation of cell cycle|regulation of lipid kinase activity|transcription, DNA-dependent transcription factor binding lung(5)|skin(3)|ovary(2) 10 Myeloproliferative disorder(115;0.00878) ATTTTCATAATGTTTTCCACA 0.348 NA 13 51 0 0 0 0 SLC12A5 57468 broad.mit.edu 37 20 44676687 44676687 + Missense_Mutation SNP C C T TCGA-BA-5556-01A-01D-1512-08 TCGA-BA-5556-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d31fda32-363b-44e4-8f2c-834a66f46b87 39b1a5f5-ffcd-4af3-8a6f-3c71f1496df7 g.chr20:44676687C>T uc010zxl.1 + 16 2120 c.2044C>T c.(2044-2046)CGC>TGC p.R682C SLC12A5_uc010zxm.1_RNA|SLC12A5_uc002xrb.2_Missense_Mutation_p.R659C NM_001134771 NP_001128243 Q9H2X9 S12A5_HUMAN solute carrier family 12 (potassium-chloride 682 potassium ion transport|sodium ion transport integral to membrane potassium:chloride symporter activity ovary(2)|large_intestine(1)|central_nervous_system(1)|skin(1) 5 Myeloproliferative disorder(115;0.0122) Bumetanide(DB00887)|Potassium Chloride(DB00761) TGCCCTCTTACGCCTGGAGGA 0.597 NA 3 24 0 0 0 0 ZNF334 55713 broad.mit.edu 37 20 45131097 45131097 + Missense_Mutation SNP T T A TCGA-BA-5556-01A-01D-1512-08 TCGA-BA-5556-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d31fda32-363b-44e4-8f2c-834a66f46b87 39b1a5f5-ffcd-4af3-8a6f-3c71f1496df7 g.chr20:45131097T>A uc002xsc.2 - 5 1065 c.881A>T c.(880-882)GAA>GTA p.E294V ZNF334_uc002xsa.2_Missense_Mutation_p.E317V|ZNF334_uc002xsb.2_Missense_Mutation_p.E256V|ZNF334_uc002xsd.2_Missense_Mutation_p.E256V|ZNF334_uc010ghl.2_Missense_Mutation_p.E293V NM_018102 NP_060572 Q9HCZ1 ZN334_HUMAN zinc finger protein 334 isoform a 294 C2H2-type 3. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1)|pancreas(1) 2 Myeloproliferative disorder(115;0.0122) TTCACTGCATTCATAGGGTCT 0.423 NA 52 241 0 0 0 0 TPTE 7179 broad.mit.edu 37 21 10934054 10934054 + Missense_Mutation SNP T T A TCGA-BA-5556-01A-01D-1512-08 TCGA-BA-5556-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d31fda32-363b-44e4-8f2c-834a66f46b87 39b1a5f5-ffcd-4af3-8a6f-3c71f1496df7 g.chr21:10934054T>A uc002yip.1 - 16 1291 c.923A>T c.(922-924)AAT>ATT p.N308I TPTE_uc002yis.1_RNA|TPTE_uc002yiq.1_Missense_Mutation_p.N290I|TPTE_uc002yir.1_Missense_Mutation_p.N270I|TPTE_uc010gkv.1_Missense_Mutation_p.N170I NM_199261 NP_954870 P56180 TPTE_HUMAN transmembrane phosphatase with tensin homology 308 Phosphatase tensin-type. signal transduction integral to membrane ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity ovary(2)|lung(1)|breast(1)|skin(1) 5 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) AGTGGGGACATTATGATCATC 0.299 NA 20 438 0 0 0 0 APP 351 broad.mit.edu 37 21 27269978 27269978 + Silent SNP C C T rs141559720 byFrequency TCGA-BA-5556-01A-01D-1512-08 TCGA-BA-5556-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d31fda32-363b-44e4-8f2c-834a66f46b87 39b1a5f5-ffcd-4af3-8a6f-3c71f1496df7 g.chr21:27269978C>T uc002ylz.2 - 16 2171 c.1971G>A c.(1969-1971)GGG>GGA p.G657G APP_uc011acg.1_Silent_p.G165G|APP_uc010glk.2_Silent_p.G633G|APP_uc002yma.2_Silent_p.G638G|APP_uc011ach.1_Silent_p.G601G|APP_uc002ymb.2_Silent_p.G582G|APP_uc010glj.2_Silent_p.G526G|APP_uc011aci.1_Silent_p.G547G NM_000484 NP_000475 P05067 A4_HUMAN amyloid beta A4 protein isoform a precursor 657 Extracellular (Potential). adult locomotory behavior|axon cargo transport|axon midline choice point recognition|cell adhesion|cellular copper ion homeostasis|collateral sprouting in absence of injury|dendrite development|endocytosis|extracellular matrix organization|G2 phase of mitotic cell cycle|innate immune response|ionotropic glutamate receptor signaling pathway|mating behavior|mRNA polyadenylation|neuron apoptosis|neuron remodeling|Notch signaling pathway|platelet activation|platelet degranulation|positive regulation of mitotic cell cycle|protein phosphorylation|regulation of epidermal growth factor receptor activity|regulation of multicellular organism growth|regulation of synapse structure and activity|regulation of translation|visual learning axon|cell surface|coated pit|dendritic shaft|dendritic spine|extracellular region|Golgi apparatus|integral to plasma membrane|platelet alpha granule lumen acetylcholine receptor binding|DNA binding|heparin binding|identical protein binding|metal ion binding|protein binding|protein binding|PTB domain binding|serine-type endopeptidase inhibitor activity ovary(1) 1 Breast(209;0.00295) TATTTGTCAACCCAGAACCTG 0.358 NA 31 237 0 0 0 0 GRIK1 2897 broad.mit.edu 37 21 30959875 30959875 + Missense_Mutation SNP G G T TCGA-BA-5556-01A-01D-1512-08 TCGA-BA-5556-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d31fda32-363b-44e4-8f2c-834a66f46b87 39b1a5f5-ffcd-4af3-8a6f-3c71f1496df7 g.chr21:30959875G>T uc002yno.1 - 12 2068 c.1604C>A c.(1603-1605)ACC>AAC p.T535N GRIK1_uc002ynn.2_Missense_Mutation_p.T520N|GRIK1_uc011acs.1_Missense_Mutation_p.T535N|GRIK1_uc011act.1_Missense_Mutation_p.T396N|GRIK1_uc010glq.1_Missense_Mutation_p.T378N NM_000830 NP_000821 P39086 GRIK1_HUMAN glutamate receptor, ionotropic, kainate 1 535 Extracellular (Potential). central nervous system development|synaptic transmission cell junction|postsynaptic membrane kainate selective glutamate receptor activity large_intestine(1)|ovary(1)|skin(1) 3 L-Glutamic Acid(DB00142)|Topiramate(DB00273) CCGCACGTAGGTGATGGTAAG 0.483 NA 3 48 0.004672 0.00490017 1 0 DSCR3 10311 broad.mit.edu 37 21 38610786 38610786 + Missense_Mutation SNP T T C TCGA-BA-5556-01A-01D-1512-08 TCGA-BA-5556-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d31fda32-363b-44e4-8f2c-834a66f46b87 39b1a5f5-ffcd-4af3-8a6f-3c71f1496df7 g.chr21:38610786T>C uc002ywf.1 - 4 565 c.326A>G c.(325-327)TAT>TGT p.Y109C DSCR3_uc010gnm.1_RNA|DSCR3_uc010gnn.1_Missense_Mutation_p.Y67C|DSCR3_uc010gnl.2_Missense_Mutation_p.Y109C|DSCR3_uc011aeg.1_Intron|DSCR3_uc011aeh.1_Intron NM_006052 NP_006043 O14972 DSCR3_HUMAN Down syndrome critical region protein 3 109 vacuolar transport nucleus|retromer complex 0 CACGCCATGATACGTCTCATA 0.448 NA 7 162 0 0 0 0 B3GALT5 10317 broad.mit.edu 37 21 41032541 41032541 + Missense_Mutation SNP C C A TCGA-BA-5556-01A-01D-1512-08 TCGA-BA-5556-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d31fda32-363b-44e4-8f2c-834a66f46b87 39b1a5f5-ffcd-4af3-8a6f-3c71f1496df7 g.chr21:41032541C>A uc002yyb.1 + 5 647 c.55C>A c.(55-57)CTT>ATT p.L19I B3GALT5_uc002yye.2_Missense_Mutation_p.L19I|B3GALT5_uc002yyi.1_Missense_Mutation_p.L19I|B3GALT5_uc002yyj.1_Missense_Mutation_p.L19I|B3GALT5_uc002yyk.1_Missense_Mutation_p.L19I|B3GALT5_uc002yyl.1_Missense_Mutation_p.L19I|B3GALT5_uc002yym.1_Missense_Mutation_p.L19I NM_033173 NP_149363 Q9Y2C3 B3GT5_HUMAN UDP-Gal:betaGlcNAc beta 19 Helical; Signal-anchor for type II membrane protein; (Potential). protein glycosylation endoplasmic reticulum|Golgi membrane|integral to membrane UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity skin(1) 1 Prostate(19;2.55e-06) TCTGGGGGCTCTTTGTTTGTA 0.398 NA 28 220 1.08e-15 1.27e-15 1 0 S100B 6285 broad.mit.edu 37 21 48022218 48022218 + Missense_Mutation SNP G G C TCGA-BA-5556-01A-01D-1512-08 TCGA-BA-5556-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d31fda32-363b-44e4-8f2c-834a66f46b87 39b1a5f5-ffcd-4af3-8a6f-3c71f1496df7 g.chr21:48022218G>C uc002zju.1 - 2 222 c.111C>G c.(109-111)ATC>ATG p.I37M S100B_uc002zjv.1_Missense_Mutation_p.I37M NM_006272 NP_006263 P04271 S100B_HUMAN S100 calcium-binding protein, beta 37 EF-hand 1. axonogenesis|cell proliferation|central nervous system development|innate immune response|positive regulation of I-kappaB kinase/NF-kappaB cascade extracellular region|nucleus|perinuclear region of cytoplasm|ruffle calcium ion binding|calcium-dependent protein binding|protein homodimerization activity|RAGE receptor binding|S100 beta binding|tau protein binding|zinc ion binding 0 Breast(49;0.247) Lung NSC(3;0.245) OV - Ovarian serous cystadenocarcinoma(3;1.84e-06)|Epithelial(3;4.45e-06)|all cancers(3;2.07e-05)|Colorectal(79;0.241) GCTCATTGTTGATGAGCTCCT 0.443 NA 11 76 0 0 0 0 DNAJB7 150353 broad.mit.edu 37 22 41257198 41257198 + Silent SNP C C T TCGA-BA-5556-01A-01D-1512-08 TCGA-BA-5556-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d31fda32-363b-44e4-8f2c-834a66f46b87 39b1a5f5-ffcd-4af3-8a6f-3c71f1496df7 g.chr22:41257198C>T uc003azj.2 - 1 933 c.801G>A c.(799-801)GAG>GAA p.E267E XPNPEP3_uc011aox.1_Intron|XPNPEP3_uc003azh.2_Intron|XPNPEP3_uc003azi.2_Intron|XPNPEP3_uc011aoy.1_5'Flank|XPNPEP3_uc003azg.1_Intron|XPNPEP3_uc003azf.1_Intron|XPNPEP3_uc010gyh.1_5'Flank NM_145174 NP_660157 Q7Z6W7 DNJB7_HUMAN DnaJ (Hsp40) homolog, subfamily B, member 7 267 protein folding heat shock protein binding|unfolded protein binding ovary(1) 1 ATATACCTCCCTCATCATTGT 0.423 NA 23 136 0 0 0 0 CYB5R3 1727 broad.mit.edu 37 22 43032788 43032788 + Missense_Mutation SNP C C T rs140159332 TCGA-BA-5556-01A-01D-1512-08 TCGA-BA-5556-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d31fda32-363b-44e4-8f2c-834a66f46b87 39b1a5f5-ffcd-4af3-8a6f-3c71f1496df7 g.chr22:43032788C>T uc003bcz.2 - 2 170 c.86G>A c.(85-87)CGC>CAC p.R29H CYB5R3_uc010gzc.1_5'UTR|CYB5R3_uc003bcw.2_Missense_Mutation_p.R19H|CYB5R3_uc011aps.1_Missense_Mutation_p.R62H|CYB5R3_uc003bcy.2_Missense_Mutation_p.R6H|CYB5R3_uc003bcx.2_Missense_Mutation_p.R6H NM_000398 NP_000389 P00387 NB5R3_HUMAN cytochrome b5 reductase 3 isoform m 29 QRSTP -> RWPRA (in Ref. 10; AAA52307).|R -> G (in Ref. 1; AAA59900). blood circulation|cholesterol biosynthetic process|water-soluble vitamin metabolic process endoplasmic reticulum membrane|hemoglobin complex|mitochondrial outer membrane cytochrome-b5 reductase activity skin(1) 1 NADH(DB00157) TGGCGTGGAGCGCTGGAACAG 0.642 NA 7 23 0 0 0 0 GRM7 2917 broad.mit.edu 37 3 7348199 7348199 + Missense_Mutation SNP C C A TCGA-BA-5556-01A-01D-1512-08 TCGA-BA-5556-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d31fda32-363b-44e4-8f2c-834a66f46b87 39b1a5f5-ffcd-4af3-8a6f-3c71f1496df7 g.chr3:7348199C>A uc003bqm.2 + 4 1167 c.893C>A c.(892-894)GCA>GAA p.A298E GRM7_uc011ata.1_RNA|GRM7_uc011atb.1_RNA|GRM7_uc010hcf.2_RNA|GRM7_uc011atc.1_RNA|GRM7_uc010hcg.2_Missense_Mutation_p.A298E|GRM7_uc003bql.2_Missense_Mutation_p.A298E|GRM7_uc003bqn.1_5'UTR NM_000844 NP_000835 Q14831 GRM7_HUMAN glutamate receptor, metabotropic 7 isoform a 298 Extracellular (Potential). negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|PDZ domain binding|serine binding ovary(4)|lung(3) 7 L-Glutamic Acid(DB00142) ATCCTTGCAGCAGCCAAAAGA 0.438 NA 6 198 0.00198382 0.00209043 1 0 ITGA9 3680 broad.mit.edu 37 3 37555268 37555268 + Silent SNP C C T TCGA-BA-5556-01A-01D-1512-08 TCGA-BA-5556-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d31fda32-363b-44e4-8f2c-834a66f46b87 39b1a5f5-ffcd-4af3-8a6f-3c71f1496df7 g.chr3:37555268C>T uc003chd.2 + 9 965 c.912C>T c.(910-912)TTC>TTT p.F304F ITGA9_uc003chc.2_Silent_p.F304F NM_002207 NP_002198 Q13797 ITA9_HUMAN integrin, alpha 9 precursor 304 Extracellular (Potential).|FG-GAP 5. axon guidance|cell adhesion|integrin-mediated signaling pathway integrin complex receptor activity breast(3)|pancreas(1)|lung(1)|skin(1) 6 KIRC - Kidney renal clear cell carcinoma(284;0.165)|Kidney(284;0.197) GCTCTTACTTCGGCTCCTCCT 0.552 NA 15 82 0 0 0 0 RBM6 10180 broad.mit.edu 37 3 50095359 50095359 + Missense_Mutation SNP G G A TCGA-BA-5556-01A-01D-1512-08 TCGA-BA-5556-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d31fda32-363b-44e4-8f2c-834a66f46b87 39b1a5f5-ffcd-4af3-8a6f-3c71f1496df7 g.chr3:50095359G>A uc003cyc.2 + 9 2025 c.1892G>A c.(1891-1893)AGG>AAG p.R631K RBM6_uc011bdh.1_RNA|RBM6_uc010hlc.1_Missense_Mutation_p.R150K|RBM6_uc003cyd.2_Missense_Mutation_p.R109K|RBM6_uc003cye.2_Missense_Mutation_p.R109K|RBM6_uc011bdi.1_5'UTR|RBM6_uc010hld.1_RNA|RBM6_uc010hle.1_RNA|RBM6_uc010hlf.1_RNA NM_005777 NP_005768 P78332 RBM6_HUMAN RNA binding motif protein 6 631 RNA processing nucleus DNA binding|nucleotide binding|RNA binding|zinc ion binding ovary(2) 2 BRCA - Breast invasive adenocarcinoma(193;6.81e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0084)|Kidney(197;0.00977) CCTTCTCGAAGGGAAGGGCCA 0.512 NA 10 61 0 0 0 0 BAP1 8314 broad.mit.edu 37 3 52441440 52441440 + Missense_Mutation SNP C C T TCGA-BA-5556-01A-01D-1512-08 TCGA-BA-5556-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d31fda32-363b-44e4-8f2c-834a66f46b87 39b1a5f5-ffcd-4af3-8a6f-3c71f1496df7 g.chr3:52441440C>T uc003ddx.2 - 6 527 c.412G>A c.(412-414)GCC>ACC p.A138T BAP1_uc010hmh.2_5'Flank NM_004656 NP_004647 Q92560 BAP1_HUMAN BRCA1 associated protein-1 138 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 p.?(2) 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) TGGGCCTTGGCCAACTCCGGG 0.517 NA N|Mis|F|S|O uveal melanoma|breast|NSCLC 5 162 0 0 0 0 C3orf63 23272 broad.mit.edu 37 3 56681252 56681252 + Splice_Site SNP C C A TCGA-BA-5556-01A-01D-1512-08 TCGA-BA-5556-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d31fda32-363b-44e4-8f2c-834a66f46b87 39b1a5f5-ffcd-4af3-8a6f-3c71f1496df7 g.chr3:56681252C>A uc003did.3 - 14 1615 c.1514_splice c.e14-1 p.S505_splice C3orf63_uc003dic.3_Splice_Site_p.S109_splice|C3orf63_uc003die.3_Splice_Site_p.S505_splice NM_015224 NP_056039 Q9UK61 CC063_HUMAN retinoblastoma-associated protein 140 isoform b ovary(3)|kidney(1)|central_nervous_system(1) 5 KIRC - Kidney renal clear cell carcinoma(284;0.0126)|Kidney(284;0.0147) CCTTTTTGTGCTGTAAATAAA 0.318 NA 17 88 2.94e-08 3.32e-08 1 0 PLS1 5357 broad.mit.edu 37 3 142388320 142388320 + Silent SNP C C T TCGA-BA-5556-01A-01D-1512-08 TCGA-BA-5556-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d31fda32-363b-44e4-8f2c-834a66f46b87 39b1a5f5-ffcd-4af3-8a6f-3c71f1496df7 g.chr3:142388320C>T uc010huv.2 + 3 318 c.159C>T c.(157-159)CGC>CGT p.R53R PLS1_uc003euz.2_Silent_p.R53R|PLS1_uc003eva.2_Silent_p.R53R NM_001145319 NP_001138791 Q14651 PLSI_HUMAN plastin 1 53 EF-hand 2. cytoplasm actin filament binding|calcium ion binding|structural constituent of cytoskeleton ovary(1) 1 ACAAGGTGCGCGAGATTGTGG 0.408 NA 26 184 0 0 0 0 ZIC4 84107 broad.mit.edu 37 3 147114229 147114229 + Missense_Mutation SNP T T G TCGA-BA-5556-01A-01D-1512-08 TCGA-BA-5556-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d31fda32-363b-44e4-8f2c-834a66f46b87 39b1a5f5-ffcd-4af3-8a6f-3c71f1496df7 g.chr3:147114229T>G uc003ewd.1 - 3 371 c.98A>C c.(97-99)CAG>CCG p.Q33P ZIC4_uc003ewc.1_5'UTR|ZIC4_uc011bno.1_Missense_Mutation_p.Q83P NM_032153 NP_115529 Q8N9L1 ZIC4_HUMAN zinc finger protein of the cerebellum 4 33 nucleus DNA binding|zinc ion binding upper_aerodigestive_tract(1)|central_nervous_system(1) 2 GGCGGTGAGCTGGGGGCCATG 0.692 NA 9 37 0 0 0 0 PTX3 5806 broad.mit.edu 37 3 157160520 157160520 + Missense_Mutation SNP C C T TCGA-BA-5556-01A-01D-1512-08 TCGA-BA-5556-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d31fda32-363b-44e4-8f2c-834a66f46b87 39b1a5f5-ffcd-4af3-8a6f-3c71f1496df7 g.chr3:157160520C>T uc003fbl.3 + 3 1041 c.898C>T c.(898-900)CAC>TAC p.H300Y VEPH1_uc003fbj.1_Intron|VEPH1_uc003fbk.1_Intron|VEPH1_uc010hvu.1_Intron NM_002852 NP_002843 P26022 PTX3_HUMAN pentraxin 3 precursor 300 Pentaxin. inflammatory response extracellular region central_nervous_system(1) 1 Lung(72;0.0272)|LUSC - Lung squamous cell carcinoma(72;0.0461) GGCCACAGGTCACATTGTTCC 0.532 NA 9 83 0 0 0 0 SLITRK3 22865 broad.mit.edu 37 3 164908254 164908254 + Missense_Mutation SNP T T C TCGA-BA-5556-01A-01D-1512-08 TCGA-BA-5556-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d31fda32-363b-44e4-8f2c-834a66f46b87 39b1a5f5-ffcd-4af3-8a6f-3c71f1496df7 g.chr3:164908254T>C uc003fej.3 - 2 809 c.365A>G c.(364-366)AAT>AGT p.N122S SLITRK3_uc003fek.2_Missense_Mutation_p.N122S NM_014926 NP_055741 O94933 SLIK3_HUMAN slit and trk like 3 protein precursor 122 LRR 2.|Extracellular (Potential). integral to membrane ovary(6)|skin(3)|pancreas(1) 10 CTTAAGACCATTGAAAGCTCC 0.348 NA HNSCC(40;0.11) 22 106 0 0 0 0 PPAT 5471 broad.mit.edu 37 4 57267496 57267496 + Missense_Mutation SNP C C T TCGA-BA-5556-01A-01D-1512-08 TCGA-BA-5556-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d31fda32-363b-44e4-8f2c-834a66f46b87 39b1a5f5-ffcd-4af3-8a6f-3c71f1496df7 g.chr4:57267496C>T uc003hbr.2 - 7 1088 c.886G>A c.(886-888)GAC>AAC p.D296N NM_002703 NP_002694 Q06203 PUR1_HUMAN phosphoribosyl pyrophosphate amidotransferase 296 glutamine metabolic process|nucleoside metabolic process|purine base biosynthetic process|purine ribonucleoside monophosphate biosynthetic process cytosol 4 iron, 4 sulfur cluster binding|amidophosphoribosyltransferase activity|metal ion binding 0 Glioma(25;0.08)|all_neural(26;0.101) L-Glutamine(DB00130)|Thioguanine(DB00352) ATCTACTTACCTTCGAACATA 0.353 NA 19 271 0 0 0 0 YTHDC1 91746 broad.mit.edu 37 4 69184292 69184292 + Missense_Mutation SNP T T C TCGA-BA-5556-01A-01D-1512-08 TCGA-BA-5556-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d31fda32-363b-44e4-8f2c-834a66f46b87 39b1a5f5-ffcd-4af3-8a6f-3c71f1496df7 g.chr4:69184292T>C uc003hdx.2 - 15 2122 c.1769A>G c.(1768-1770)AAT>AGT p.N590S YTHDC1_uc003hdy.2_Missense_Mutation_p.N572S NM_001031732 NP_001026902 Q96MU7 YTDC1_HUMAN splicing factor YT521-B isoform 1 590 upper_aerodigestive_tract(1)|ovary(1) 2 CACATAATCATTGTAGGACTA 0.289 NA 7 64 0 0 0 0 FRAS1 80144 broad.mit.edu 37 4 79285132 79285132 + Silent SNP C C T TCGA-BA-5556-01A-01D-1512-08 TCGA-BA-5556-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d31fda32-363b-44e4-8f2c-834a66f46b87 39b1a5f5-ffcd-4af3-8a6f-3c71f1496df7 g.chr4:79285132C>T uc003hlb.2 + 22 3086 c.2646C>T c.(2644-2646)CTC>CTT p.L882L FRAS1_uc003hkw.2_Silent_p.L882L NM_025074 NP_079350 Q86XX4 FRAS1_HUMAN Fraser syndrome 1 882 FU 10.|Extracellular (Potential). cell communication integral to membrane|plasma membrane metal ion binding large_intestine(5) 5 ACACCAACCTCGTGCTGTCCC 0.527 NA 3 24 0 0 0 0 HERC3 8916 broad.mit.edu 37 4 89591032 89591032 + Missense_Mutation SNP G G A TCGA-BA-5556-01A-01D-1512-08 TCGA-BA-5556-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d31fda32-363b-44e4-8f2c-834a66f46b87 39b1a5f5-ffcd-4af3-8a6f-3c71f1496df7 g.chr4:89591032G>A uc003hrw.1 + 15 1821 c.1655G>A c.(1654-1656)TGC>TAC p.C552Y HERC3_uc011cdn.1_Missense_Mutation_p.C434Y|HERC3_uc011cdo.1_5'UTR NM_014606 NP_055421 Q15034 HERC3_HUMAN hect domain and RLD 3 552 protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasmic membrane-bounded vesicle ubiquitin-protein ligase activity lung(2)|prostate(1)|skin(1) 4 OV - Ovarian serous cystadenocarcinoma(123;0.000319) TCTCAGGTATGCCCGAAATAT 0.363 NA 20 137 0 0 0 0 PAPSS1 9061 broad.mit.edu 37 4 108608212 108608212 + Missense_Mutation SNP C C T TCGA-BA-5556-01A-01D-1512-08 TCGA-BA-5556-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d31fda32-363b-44e4-8f2c-834a66f46b87 39b1a5f5-ffcd-4af3-8a6f-3c71f1496df7 g.chr4:108608212C>T uc003hyk.2 - 4 617 c.533G>A c.(532-534)CGG>CAG p.R178Q PAPSS1_uc011cfh.1_Intron NM_005443 NP_005434 O43252 PAPS1_HUMAN 3'-phosphoadenosine 5'-phosphosulfate synthase 178 Adenylyl-sulfate kinase. 3'-phosphoadenosine 5'-phosphosulfate biosynthetic process|skeletal system development|sulfate assimilation|xenobiotic metabolic process cytosol adenylylsulfate kinase activity|ATP binding|sulfate adenylyltransferase (ATP) activity ovary(1) 1 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;5.49e-05) TTCTCCTGCCCGGGCTTTTTT 0.363 NA 11 238 0 0 0 0 MORF4 10934 broad.mit.edu 37 4 174537544 174537545 + Missense_Mutation DNP CA CA GC TCGA-BA-5556-01A-01D-1512-08 TCGA-BA-5556-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d31fda32-363b-44e4-8f2c-834a66f46b87 39b1a5f5-ffcd-4af3-8a6f-3c71f1496df7 g.chr4:174537544_174537545CA>GC uc011cke.1 - 1 250_251 c.250_251TG>GC c.(250-252)TGG>GCG p.W84A NM_006792 NP_006783 mortality factor 4 0 Prostate(90;0.00201)|Renal(120;0.0183)|Melanoma(52;0.0749)|all_neural(102;0.0765)|all_hematologic(60;0.107) all cancers(43;1.88e-18)|Epithelial(43;1.19e-16)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-09)|STAD - Stomach adenocarcinoma(60;0.00273)|GBM - Glioblastoma multiforme(59;0.0064)|LUSC - Lung squamous cell carcinoma(193;0.0903)|Kidney(143;0.249) AATTAAGTCCCAGTCATCAACA 0.391 NA 31 253 0 0 0 0 HEATR7B2 133558 broad.mit.edu 37 5 41018010 41018010 + Silent SNP G G A TCGA-BA-5556-01A-01D-1512-08 TCGA-BA-5556-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d31fda32-363b-44e4-8f2c-834a66f46b87 39b1a5f5-ffcd-4af3-8a6f-3c71f1496df7 g.chr5:41018010G>A uc003jmj.3 - 28 3316 c.2826C>T c.(2824-2826)ACC>ACT p.T942T HEATR7B2_uc003jmi.3_Silent_p.T497T NM_173489 NP_775760 Q7Z745 HTRB2_HUMAN HEAT repeat family member 7B2 942 binding ovary(6)|central_nervous_system(2) 8 TGGTGGGCAGGGTATCACAGG 0.483 NA 7 12 0 0 0 0 PPIP5K2 23262 broad.mit.edu 37 5 102487035 102487035 + Nonsense_Mutation SNP A A T TCGA-BA-5556-01A-01D-1512-08 TCGA-BA-5556-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d31fda32-363b-44e4-8f2c-834a66f46b87 39b1a5f5-ffcd-4af3-8a6f-3c71f1496df7 g.chr5:102487035A>T uc003kod.3 + 9 1504 c.985A>T c.(985-987)AAA>TAA p.K329* PPIP5K2_uc011cva.1_RNA|PPIP5K2_uc003koe.2_Nonsense_Mutation_p.K329*|PPIP5K2_uc010jbo.1_Nonsense_Mutation_p.K251* NM_015216 NP_056031 O43314 VIP2_HUMAN Histidine acid phosphatase domain containing 1 329 inositol metabolic process cytosol acid phosphatase activity|ATP binding|diphosphoinositol-pentakisphosphate kinase activity|inositol 1,3,4,5,6-pentakisphosphate kinase activity|inositol hexakisphosphate 5-kinase activity ovary(1)|skin(1) 2 CAGTTTTGTGAAAAATTCCAT 0.308 NA 31 131 0 0 0 0 C5orf15 56951 broad.mit.edu 37 5 133295208 133295208 + Missense_Mutation SNP T T C TCGA-BA-5556-01A-01D-1512-08 TCGA-BA-5556-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d31fda32-363b-44e4-8f2c-834a66f46b87 39b1a5f5-ffcd-4af3-8a6f-3c71f1496df7 g.chr5:133295208T>C uc003kyo.2 - 2 774 c.643A>G c.(643-645)ATT>GTT p.I215V NM_020199 NP_064584 Q8NC54 KCT2_HUMAN keratinocytes associated transmembrane protein 2 215 Helical; (Potential). integral to membrane 0 KIRC - Kidney renal clear cell carcinoma(527;0.00806)|Kidney(363;0.02) TGATATGTAATGTAAACAACA 0.289 NA 12 68 0 0 0 0 HARS2 23438 broad.mit.edu 37 5 140073602 140073602 + Missense_Mutation SNP G G A TCGA-BA-5556-01A-01D-1512-08 TCGA-BA-5556-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d31fda32-363b-44e4-8f2c-834a66f46b87 39b1a5f5-ffcd-4af3-8a6f-3c71f1496df7 g.chr5:140073602G>A uc003lgx.2 + 3 482 c.266G>A c.(265-267)GGA>GAA p.G89E HARS_uc003lgv.2_5'Flank|HARS_uc011czm.1_5'Flank|HARS_uc003lgw.2_5'Flank|HARS_uc011czn.1_5'Flank|HARS_uc010jfu.2_5'Flank|HARS_uc011czo.1_5'Flank|HARS_uc011czp.1_5'Flank|HARS_uc011czq.1_5'Flank|HARS2_uc010jfv.1_Missense_Mutation_p.G19E|HARS2_uc011czr.1_Missense_Mutation_p.G64E|HARS2_uc011czs.1_Missense_Mutation_p.G19E|HARS2_uc011czt.1_Intron|HARS2_uc011czu.1_5'Flank NM_012208 NP_036340 P49590 SYHM_HUMAN histidyl-tRNA synthetase 2 precursor 89 histidyl-tRNA aminoacylation mitochondrial matrix ATP binding|histidine-tRNA ligase activity 0 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) AAACGTCATGGAGCAAAGGGG 0.478 NA 59 245 0 0 0 0 PCDHGB7 56099 broad.mit.edu 37 5 140798230 140798230 + Missense_Mutation SNP C C A TCGA-BA-5556-01A-01D-1512-08 TCGA-BA-5556-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d31fda32-363b-44e4-8f2c-834a66f46b87 39b1a5f5-ffcd-4af3-8a6f-3c71f1496df7 g.chr5:140798230C>A uc003lkn.1 + 1 949 c.804C>A c.(802-804)GAC>GAA p.D268E PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc003lkh.1_Intron|PCDHGB6_uc003lkj.1_Intron|PCDHGA10_uc003lkl.1_Intron|PCDHGB7_uc003lkm.2_Missense_Mutation_p.D268E|PCDHGA11_uc003lko.1_5'Flank|PCDHGA11_uc003lkp.1_5'Flank|PCDHGA11_uc003lkq.1_5'Flank NM_018927 NP_061750 Q9Y5F8 PCDGJ_HUMAN protocadherin gamma subfamily B, 7 isoform 1 268 Extracellular (Potential).|Cadherin 3. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(2) 2 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) AGGCCACTGACCAGGACGAGG 0.532 NA 13 68 0.000151284 0.000161681 1 0 CRISP2 7180 broad.mit.edu 37 6 49667570 49667570 + Missense_Mutation SNP C C G TCGA-BA-5556-01A-01D-1512-08 TCGA-BA-5556-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d31fda32-363b-44e4-8f2c-834a66f46b87 39b1a5f5-ffcd-4af3-8a6f-3c71f1496df7 g.chr6:49667570C>G uc003ozq.2 - 6 474 c.218G>C c.(217-219)AGG>ACG p.R73T CRISP2_uc003ozl.2_Missense_Mutation_p.R73T|CRISP2_uc003ozn.2_Missense_Mutation_p.R73T|CRISP2_uc003ozr.2_Missense_Mutation_p.R73T|CRISP2_uc003ozo.2_Missense_Mutation_p.R73T|CRISP2_uc003ozm.2_Missense_Mutation_p.R73T|CRISP2_uc003ozp.2_Missense_Mutation_p.R73T NM_001142408 NP_001135880 P16562 CRIS2_HUMAN cysteine-rich secretory protein 2 precursor 73 extracellular space skin(1) 1 Lung NSC(77;0.0161) KIRC - Kidney renal clear cell carcinoma(2;0.106)|Kidney(12;0.156) GTTTGCCCACCTTTGGGCATT 0.259 NA 12 78 0 0 0 0 MICAL1 64780 broad.mit.edu 37 6 109766112 109766112 + Missense_Mutation SNP C C T TCGA-BA-5556-01A-01D-1512-08 TCGA-BA-5556-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d31fda32-363b-44e4-8f2c-834a66f46b87 39b1a5f5-ffcd-4af3-8a6f-3c71f1496df7 g.chr6:109766112C>T uc003ptj.2 - 22 3222 c.2968G>A c.(2968-2970)GAG>AAG p.E990K MICAL1_uc003ptk.2_Missense_Mutation_p.E990K|MICAL1_uc010kdr.2_Missense_Mutation_p.E904K|MICAL1_uc011eaq.1_Missense_Mutation_p.E1009K NM_022765 NP_073602 Q8TDZ2 MICA1_HUMAN microtubule associated monoxygenase, calponin 990 cytoskeleton organization|signal transduction cytoplasm|intermediate filament SH3 domain binding|zinc ion binding breast(2)|ovary(1) 3 all_cancers(87;0.000189)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00686)|Lung SC(18;0.0743)|Colorectal(196;0.101)|all_lung(197;0.149) Epithelial(106;0.0142)|all cancers(137;0.0197)|OV - Ovarian serous cystadenocarcinoma(136;0.0233)|BRCA - Breast invasive adenocarcinoma(108;0.0574) ATCATGAGCTCGGCCTCCTCA 0.552 NA 5 242 0 0 0 0 SOD2 6648 broad.mit.edu 37 6 160106063 160106063 + Missense_Mutation SNP C C T TCGA-BA-5556-01A-01D-1512-08 TCGA-BA-5556-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d31fda32-363b-44e4-8f2c-834a66f46b87 39b1a5f5-ffcd-4af3-8a6f-3c71f1496df7 g.chr6:160106063C>T uc003qsg.2 - 4 500 c.346G>A c.(346-348)GAG>AAG p.E116K SOD2_uc003qsh.2_Missense_Mutation_p.E77K|SOD2_uc003qsi.1_Missense_Mutation_p.E116K|SOD2_uc011efu.1_Intron|SOD2_uc011efv.1_Missense_Mutation_p.E77K NM_001024465 NP_001019636 P04179 SODM_HUMAN manganese superoxide dismutase isoform A 116 age-dependent response to reactive oxygen species|negative regulation of neuron apoptosis|oxygen homeostasis|protein homotetramerization|regulation of transcription from RNA polymerase II promoter|release of cytochrome c from mitochondria|removal of superoxide radicals|vasodilation by acetylcholine involved in regulation of systemic arterial blood pressure manganese ion binding|superoxide dismutase activity 0 Breast(66;0.000776)|Ovarian(120;0.0303)|Prostate(117;0.103) OV - Ovarian serous cystadenocarcinoma(65;1.4e-18)|BRCA - Breast invasive adenocarcinoma(81;5.77e-06) TCCAGCAACTCCCCTATTAAA 0.373 NA 7 49 0 0 0 0 EIF3B 8662 broad.mit.edu 37 7 2409152 2409153 + Missense_Mutation DNP GC GC TT TCGA-BA-5556-01A-01D-1512-08 TCGA-BA-5556-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d31fda32-363b-44e4-8f2c-834a66f46b87 39b1a5f5-ffcd-4af3-8a6f-3c71f1496df7 g.chr7:2409152_2409153GC>TT uc003slx.2 + 10 1532_1533 c.1449_1450GC>TT c.(1447-1452)GTGCCT>GTTTCT p.P484S EIF3B_uc003sly.2_Missense_Mutation_p.P484S|EIF3B_uc003sma.2_Missense_Mutation_p.P212S NM_003751 NP_003742 P55884 EIF3B_HUMAN eukaryotic translation initiation factor 3, 484 regulation of translational initiation cytosol|eukaryotic translation initiation factor 3 complex nucleotide binding|protein complex scaffold|translation initiation factor activity 0 Ovarian(82;0.0253) UCEC - Uterine corpus endometrioid carcinoma (27;0.0833)|OV - Ovarian serous cystadenocarcinoma(56;7.76e-14) CCTTCTGGGTGCCTGAAGACAA 0.47 NA 48 338 0 0 0 0 SEMA3A 10371 broad.mit.edu 37 7 83606507 83606507 + Missense_Mutation SNP G G A TCGA-BA-5556-01A-01D-1512-08 TCGA-BA-5556-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d31fda32-363b-44e4-8f2c-834a66f46b87 39b1a5f5-ffcd-4af3-8a6f-3c71f1496df7 g.chr7:83606507G>A uc003uhz.2 - 15 1973 c.1658C>T c.(1657-1659)ACA>ATA p.T553I NM_006080 NP_006071 Q14563 SEM3A_HUMAN semaphorin 3A precursor 553 axon guidance extracellular region|membrane receptor activity ovary(2)|breast(1)|kidney(1) 4 TTGTCGTCTTGTGCGTCTGAA 0.343 NA 18 120 0 0 0 0 MUC17 140453 broad.mit.edu 37 7 100679879 100679879 + Missense_Mutation SNP C C T rs71273404 TCGA-BA-5556-01A-01D-1512-08 TCGA-BA-5556-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d31fda32-363b-44e4-8f2c-834a66f46b87 39b1a5f5-ffcd-4af3-8a6f-3c71f1496df7 g.chr7:100679879C>T uc003uxp.1 + 3 5235 c.5182C>T c.(5182-5184)CGT>TGT p.R1728C MUC17_uc010lho.1_RNA NM_001040105 NP_001035194 Q685J3 MUC17_HUMAN mucin 17 precursor 1728 Extracellular (Potential).|59 X approximate tandem repeats.|27.|Ser-rich. 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) TACTGAAGCCCGTTCATCTCC 0.498 NA 58 353 0 0 0 0 MUC17 140453 broad.mit.edu 37 7 100683048 100683048 + Missense_Mutation SNP C C A TCGA-BA-5556-01A-01D-1512-08 TCGA-BA-5556-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d31fda32-363b-44e4-8f2c-834a66f46b87 39b1a5f5-ffcd-4af3-8a6f-3c71f1496df7 g.chr7:100683048C>A uc003uxp.1 + 3 8404 c.8351C>A c.(8350-8352)ACT>AAT p.T2784N MUC17_uc010lho.1_RNA NM_001040105 NP_001035194 Q685J3 MUC17_HUMAN mucin 17 precursor 2784 Extracellular (Potential).|Ser-rich.|59 X approximate tandem repeats.|45. 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) CCTGTCACCACTTCTACTGAA 0.478 NA 9 340 2.18e-05 2.36e-05 1 0 MUC17 140453 broad.mit.edu 37 7 100686329 100686329 + Missense_Mutation SNP A A G TCGA-BA-5556-01A-01D-1512-08 TCGA-BA-5556-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d31fda32-363b-44e4-8f2c-834a66f46b87 39b1a5f5-ffcd-4af3-8a6f-3c71f1496df7 g.chr7:100686329A>G uc003uxp.1 + 3 11685 c.11632A>G c.(11632-11634)ACT>GCT p.T3878A MUC17_uc010lho.1_RNA NM_001040105 NP_001035194 Q685J3 MUC17_HUMAN mucin 17 precursor 3878 Extracellular (Potential). 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) TCCATTAACAACTCTCCTTGT 0.468 NA 38 185 0 0 0 0 MOGAT3 346606 broad.mit.edu 37 7 100843751 100843751 + Missense_Mutation SNP A A T TCGA-BA-5556-01A-01D-1512-08 TCGA-BA-5556-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d31fda32-363b-44e4-8f2c-834a66f46b87 39b1a5f5-ffcd-4af3-8a6f-3c71f1496df7 g.chr7:100843751A>T uc003uyc.2 - 2 322 c.155T>A c.(154-156)CTC>CAC p.L52H MOGAT3_uc010lhr.2_Missense_Mutation_p.L52H NM_178176 NP_835470 Q86VF5 MOGT3_HUMAN monoacylglycerol O-acyltransferase 3 52 Helical; (Potential). glycerol metabolic process|lipid biosynthetic process endoplasmic reticulum membrane|integral to membrane 2-acylglycerol O-acyltransferase activity|diacylglycerol O-acyltransferase activity ovary(2) 2 Lung NSC(181;0.168)|all_lung(186;0.215) GAAGGGCCAGAGTGACGTGAA 0.527 NA 7 27 0 0 0 0 LRRN3 54674 broad.mit.edu 37 7 110762919 110762919 + Silent SNP C C A TCGA-BA-5556-01A-01D-1512-08 TCGA-BA-5556-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d31fda32-363b-44e4-8f2c-834a66f46b87 39b1a5f5-ffcd-4af3-8a6f-3c71f1496df7 g.chr7:110762919C>A uc003vft.3 + 4 1137 c.91C>A c.(91-93)CGG>AGG p.R31R IMMP2L_uc003vfq.1_Intron|IMMP2L_uc010ljr.1_Intron|IMMP2L_uc003vfr.2_Intron|LRRN3_uc003vfu.3_Silent_p.R31R|LRRN3_uc003vfs.3_Silent_p.R31R NM_001099660 NP_001093130 Q9H3W5 LRRN3_HUMAN leucine rich repeat neuronal 3 precursor 31 Extracellular (Potential).|LRRNT. integral to membrane skin(3)|ovary(2)|pancreas(2)|central_nervous_system(1) 8 UCEC - Uterine corpus endometrioid carcinoma (4;0.245)|LUSC - Lung squamous cell carcinoma(290;0.0715)|Lung(3;0.0864)|STAD - Stomach adenocarcinoma(3;0.125) GGATTGTCCACGGTTATGTAC 0.408 NA 21 148 2.38e-13 2.73e-13 1 0 NRF1 4899 broad.mit.edu 37 7 129297354 129297354 + Missense_Mutation SNP G G T TCGA-BA-5556-01A-01D-1512-08 TCGA-BA-5556-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d31fda32-363b-44e4-8f2c-834a66f46b87 39b1a5f5-ffcd-4af3-8a6f-3c71f1496df7 g.chr7:129297354G>T uc003voz.2 + 2 280 c.163G>T c.(163-165)GAC>TAC p.D55Y NRF1_uc003vpa.2_Missense_Mutation_p.D55Y|NRF1_uc011kpa.1_5'UTR|NRF1_uc003vpb.2_Missense_Mutation_p.D55Y NM_005011 NP_005002 Q16656 NRF1_HUMAN nuclear respiratory factor 1 55 Dimerization.|Asp/Glu-rich (acidic). generation of precursor metabolites and energy|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nucleus DNA binding ovary(1) 1 CTCTTACGATGACTCAGATAT 0.478 NA 9 124 4.69e-08 5.26e-08 1 0 ST18 9705 broad.mit.edu 37 8 53055550 53055550 + Missense_Mutation SNP G G A TCGA-BA-5556-01A-01D-1512-08 TCGA-BA-5556-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d31fda32-363b-44e4-8f2c-834a66f46b87 39b1a5f5-ffcd-4af3-8a6f-3c71f1496df7 g.chr8:53055550G>A uc003xqz.2 - 12 2264 c.2108C>T c.(2107-2109)GCC>GTC p.A703V ST18_uc011ldq.1_Missense_Mutation_p.A350V|ST18_uc011ldr.1_Missense_Mutation_p.A668V|ST18_uc011lds.1_Missense_Mutation_p.A608V|ST18_uc003xra.2_Missense_Mutation_p.A703V NM_014682 NP_055497 O60284 ST18_HUMAN suppression of tumorigenicity 18 703 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(4)|skin(1) 5 Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229) TGGTATAGAGGCCTCTCCAGG 0.418 NA 25 193 0 0 0 0 ATP6V1H 51606 broad.mit.edu 37 8 54730074 54730074 + Missense_Mutation SNP A A G TCGA-BA-5556-01A-01D-1512-08 TCGA-BA-5556-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d31fda32-363b-44e4-8f2c-834a66f46b87 39b1a5f5-ffcd-4af3-8a6f-3c71f1496df7 g.chr8:54730074A>G uc003xrl.2 - 5 475 c.323T>C c.(322-324)GTT>GCT p.V108A ATP6V1H_uc003xrk.2_Missense_Mutation_p.V68A|ATP6V1H_uc003xrm.2_Missense_Mutation_p.V108A|ATP6V1H_uc003xrn.2_Missense_Mutation_p.V108A|ATP6V1H_uc011ldv.1_Missense_Mutation_p.V28A|ATP6V1H_uc010lyd.2_Missense_Mutation_p.V44A NM_213620 NP_998785 Q9UI12 VATH_HUMAN ATPase, H+ transporting, lysosomal 50/57kDa, V1 108 ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|endocytosis|insulin receptor signaling pathway|interspecies interaction between organisms|regulation of defense response to virus by virus|transferrin transport|vacuolar acidification|viral reproduction cytosol|plasma membrane|vacuolar proton-transporting V-type ATPase, V1 domain enzyme regulator activity|protein binding|proton-transporting ATPase activity, rotational mechanism 0 all_epithelial(80;0.0487)|Lung NSC(129;0.109)|all_lung(136;0.181) OV - Ovarian serous cystadenocarcinoma(7;2.79e-06)|Epithelial(17;0.000629)|all cancers(17;0.00359) GAAAATGCTAACACGCTGATG 0.413 NA 13 51 0 0 0 0 RALYL 138046 broad.mit.edu 37 8 85774590 85774590 + Missense_Mutation SNP G G A TCGA-BA-5556-01A-01D-1512-08 TCGA-BA-5556-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d31fda32-363b-44e4-8f2c-834a66f46b87 39b1a5f5-ffcd-4af3-8a6f-3c71f1496df7 g.chr8:85774590G>A uc003ycq.3 + 7 889 c.473G>A c.(472-474)CGT>CAT p.R158H RALYL_uc003ycr.3_Missense_Mutation_p.R158H|RALYL_uc003ycs.3_Missense_Mutation_p.R158H|RALYL_uc010lzy.2_Missense_Mutation_p.R147H|RALYL_uc003yct.3_Missense_Mutation_p.R171H|RALYL_uc003ycu.3_Missense_Mutation_p.R85H|RALYL_uc003ycv.3_Missense_Mutation_p.R70H NM_001100392 NP_001093862 Q86SE5 RALYL_HUMAN RALY RNA binding protein-like isoform 2 158 identical protein binding|nucleotide binding|RNA binding ovary(1) 1 CCGCTGAAGCGTCCCAGAGTG 0.507 NA 7 38 0 0 0 0 VPS13B 157680 broad.mit.edu 37 8 100523369 100523369 + Missense_Mutation SNP A A T TCGA-BA-5556-01A-01D-1512-08 TCGA-BA-5556-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d31fda32-363b-44e4-8f2c-834a66f46b87 39b1a5f5-ffcd-4af3-8a6f-3c71f1496df7 g.chr8:100523369A>T uc003yiv.2 + 29 4448 c.4337A>T c.(4336-4338)CAT>CTT p.H1446L VPS13B_uc003yiw.2_Missense_Mutation_p.H1421L|VPS13B_uc003yix.1_Missense_Mutation_p.H916L NM_017890 NP_060360 Q7Z7G8 VP13B_HUMAN vacuolar protein sorting 13B isoform 5 1446 protein transport ovary(7)|skin(4)|lung(3)|central_nervous_system(2)|pancreas(2)|breast(1)|kidney(1) 20 Breast(36;3.73e-07) OV - Ovarian serous cystadenocarcinoma(57;0.00636) CATCAGCAGCATGGATTCCTC 0.333 NA 37 161 0 0 0 0 DCAF13 25879 broad.mit.edu 37 8 104432504 104432504 + Missense_Mutation SNP A A G TCGA-BA-5556-01A-01D-1512-08 TCGA-BA-5556-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d31fda32-363b-44e4-8f2c-834a66f46b87 39b1a5f5-ffcd-4af3-8a6f-3c71f1496df7 g.chr8:104432504A>G uc003yln.2 + 2 816 c.539A>G c.(538-540)TAT>TGT p.Y180C DCAF13_uc003ylm.1_Intron|DCAF13_uc003ylo.2_5'UTR NM_015420 NP_056235 Q9NV06 DCA13_HUMAN WD repeats and SOF1 domain containing 28 rRNA processing CUL4 RING ubiquitin ligase complex|nucleolus|ribonucleoprotein complex breast(1) 1 CCAAGAAACTATGATCCTGCT 0.358 NA 17 107 0 0 0 0 FAM91A1 157769 broad.mit.edu 37 8 124796733 124796733 + Missense_Mutation SNP A A G TCGA-BA-5556-01A-01D-1512-08 TCGA-BA-5556-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d31fda32-363b-44e4-8f2c-834a66f46b87 39b1a5f5-ffcd-4af3-8a6f-3c71f1496df7 g.chr8:124796733A>G uc003yqv.2 + 9 788 c.727A>G c.(727-729)ATG>GTG p.M243V FAM91A1_uc011lik.1_Missense_Mutation_p.M243V|FAM91A1_uc011lil.1_Missense_Mutation_p.M1V NM_144963 NP_659400 Q658Y4 F91A1_HUMAN hypothetical protein LOC157769 243 ovary(1)|central_nervous_system(1) 2 Lung NSC(37;8.76e-13)|Ovarian(258;0.00744)|all_neural(195;0.0741) STAD - Stomach adenocarcinoma(47;0.00192) AGGTTTTGTAATGAATCGAGT 0.308 NA 5 115 0 0 0 0 PHF20L1 51105 broad.mit.edu 37 8 133851650 133851650 + Missense_Mutation SNP A A T TCGA-BA-5556-01A-01D-1512-08 TCGA-BA-5556-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d31fda32-363b-44e4-8f2c-834a66f46b87 39b1a5f5-ffcd-4af3-8a6f-3c71f1496df7 g.chr8:133851650A>T uc003ytt.2 + 18 2535 c.2210A>T c.(2209-2211)AAA>ATA p.K737I PHF20L1_uc011lja.1_Missense_Mutation_p.K711I NM_016018 NP_057102 A8MW92 P20L1_HUMAN PHD finger protein 20-like 1 isoform 1 737 nucleic acid binding|zinc ion binding ovary(2) 2 all_neural(3;2.72e-06)|Medulloblastoma(3;7.08e-05)|Ovarian(258;0.00438)|Esophageal squamous(12;0.00507)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;4.46e-05) TGGAGTGCAAAATATCGTTAT 0.373 NA 7 154 0 0 0 0 COL22A1 169044 broad.mit.edu 37 8 139601676 139601676 + Silent SNP G G A TCGA-BA-5556-01A-01D-1512-08 TCGA-BA-5556-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d31fda32-363b-44e4-8f2c-834a66f46b87 39b1a5f5-ffcd-4af3-8a6f-3c71f1496df7 g.chr8:139601676G>A uc003yvd.2 - 65 5148 c.4701C>T c.(4699-4701)CCC>CCT p.P1567P COL22A1_uc011ljo.1_Silent_p.P847P NM_152888 NP_690848 Q8NFW1 COMA1_HUMAN collagen, type XXII, alpha 1 1567 Pro-rich.|Gly-rich. cell adhesion collagen|cytoplasm structural molecule activity ovary(11)|pancreas(1)|skin(1) 13 all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0517) CAGGTTCCCCGGGTTGACCTG 0.577 NA HNSCC(7;0.00092) 3 26 0 0 0 0 FREM1 158326 broad.mit.edu 37 9 14801743 14801743 + Missense_Mutation SNP A A G TCGA-BA-5556-01A-01D-1512-08 TCGA-BA-5556-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d31fda32-363b-44e4-8f2c-834a66f46b87 39b1a5f5-ffcd-4af3-8a6f-3c71f1496df7 g.chr9:14801743A>G uc003zlm.2 - 20 4191 c.3601T>C c.(3601-3603)TTT>CTT p.F1201L FREM1_uc010mic.2_RNA NM_144966 NP_659403 Q5H8C1 FREM1_HUMAN FRAS1 related extracellular matrix 1 precursor 1201 CSPG 8. cell communication|multicellular organismal development basement membrane|integral to membrane metal ion binding|sugar binding ovary(2)|breast(2)|pancreas(1) 5 GBM - Glioblastoma multiforme(50;3.53e-06) TCTTTGCTAAACCCCCTATCG 0.522 NA 12 129 0 0 0 0 KIF24 347240 broad.mit.edu 37 9 34255735 34255735 + Silent SNP C C T TCGA-BA-5556-01A-01D-1512-08 TCGA-BA-5556-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d31fda32-363b-44e4-8f2c-834a66f46b87 39b1a5f5-ffcd-4af3-8a6f-3c71f1496df7 g.chr9:34255735C>T uc003zua.3 - 11 3990 c.3870G>A c.(3868-3870)GCG>GCA p.A1290A KIF24_uc010mkb.2_Intron NM_194313 NP_919289 Q5T7B8 KIF24_HUMAN kinesin family member 24 1290 microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity central_nervous_system(1) 1 LUSC - Lung squamous cell carcinoma(29;0.0107) CAACTTACTGCGCTTGCTCCA 0.567 NA OREG0019148 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 5 38 0 0 0 0 WNK2 65268 broad.mit.edu 37 9 95993222 95993222 + Missense_Mutation SNP C C T TCGA-BA-5556-01A-01D-1512-08 TCGA-BA-5556-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d31fda32-363b-44e4-8f2c-834a66f46b87 39b1a5f5-ffcd-4af3-8a6f-3c71f1496df7 g.chr9:95993222C>T uc004ati.1 + 3 907 c.907C>T c.(907-909)CGG>TGG p.R303W WNK2_uc011lud.1_Missense_Mutation_p.R303W|WNK2_uc004atj.2_Missense_Mutation_p.R303W|WNK2_uc010mrc.1_Missense_Mutation_p.R303W|WNK2_uc010mrd.1_5'UTR NM_006648 NP_006639 Q9Y3S1 WNK2_HUMAN WNK lysine deficient protein kinase 2 303 Protein kinase. intracellular protein kinase cascade ATP binding|protein binding|protein serine/threonine kinase activity lung(4)|stomach(3)|ovary(2)|large_intestine(1)|central_nervous_system(1)|breast(1) 12 CAGCTGGTGCCGGCAGATCCT 0.587 NA 25 77 0 0 0 0 GPR107 57720 broad.mit.edu 37 9 132854651 132854651 + Missense_Mutation SNP G G A TCGA-BA-5556-01A-01D-1512-08 TCGA-BA-5556-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d31fda32-363b-44e4-8f2c-834a66f46b87 39b1a5f5-ffcd-4af3-8a6f-3c71f1496df7 g.chr9:132854651G>A uc004bze.2 + 9 1081 c.854G>A c.(853-855)CGA>CAA p.R285Q GPR107_uc004bzb.2_Missense_Mutation_p.R96Q|GPR107_uc004bzc.3_RNA|GPR107_uc011mbx.1_Missense_Mutation_p.R285Q|GPR107_uc004bzd.2_Missense_Mutation_p.R285Q NM_001136557 NP_001130029 Q5VW38 GP107_HUMAN G protein-coupled receptor 107 isoform 1 285 integral to membrane upper_aerodigestive_tract(1) 1 Ovarian(14;0.000531) CATATCCTTCGAAAACGACGG 0.423 NA 62 170 0 0 0 0 TPRN 286262 broad.mit.edu 37 9 140087090 140087090 + Silent SNP G G A TCGA-BA-5556-01A-01D-1512-08 TCGA-BA-5556-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d31fda32-363b-44e4-8f2c-834a66f46b87 39b1a5f5-ffcd-4af3-8a6f-3c71f1496df7 g.chr9:140087090G>A uc004clt.2 - 2 1596 c.1596C>T c.(1594-1596)TCC>TCT p.S532S TPRN_uc004clu.2_Silent_p.S532S NM_173691 NP_775962 Q4KMQ1 TPRN_HUMAN hypothetical protein LOC286262 isoform 2 593 Glu-rich. sensory perception of sound stereocilium 0 GGGAGCTCTCGGAAGGGTACT 0.358 NA 5 91 0 0 0 0 FRMPD4 9758 broad.mit.edu 37 X 12701661 12701661 + Silent SNP C C A TCGA-BA-5556-01A-01D-1512-08 TCGA-BA-5556-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d31fda32-363b-44e4-8f2c-834a66f46b87 39b1a5f5-ffcd-4af3-8a6f-3c71f1496df7 g.chrX:12701661C>A uc004cuz.1 + 6 1034 c.528C>A c.(526-528)GTC>GTA p.V176V FRMPD4_uc011mij.1_Silent_p.V168V NM_014728 NP_055543 Q14CM0 FRPD4_HUMAN FERM and PDZ domain containing 4 176 positive regulation of synapse structural plasticity cytoskeleton|dendritic spine phosphatidylinositol-4,5-bisphosphate binding|protein binding central_nervous_system(5)|ovary(3)|skin(2)|large_intestine(1)|lung(1)|pancreas(1) 13 CCAATCCTGTCAAAGTACGCT 0.418 NA 14 90 2.32e-05 2.51e-05 1 0 PHKA2 5256 broad.mit.edu 37 X 18972501 18972501 + Missense_Mutation SNP G G T TCGA-BA-5556-01A-01D-1512-08 TCGA-BA-5556-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d31fda32-363b-44e4-8f2c-834a66f46b87 39b1a5f5-ffcd-4af3-8a6f-3c71f1496df7 g.chrX:18972501G>T uc004cyv.3 - 2 538 c.108C>A c.(106-108)AGC>AGA p.S36R PHKA2_uc010nfh.1_RNA|PHKA2_uc010nfi.1_5'UTR NM_000292 NP_000283 P46019 KPB2_HUMAN phosphorylase kinase, alpha 2 (liver) 36 glucose metabolic process|glycogen catabolic process cytosol|phosphorylase kinase complex|plasma membrane calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity ovary(1)|central_nervous_system(1) 2 Hepatocellular(33;0.183) TCTGCTCATGGCTGGCTGACA 0.562 NA 25 107 4.27e-12 4.89e-12 1 0 RPS6KA3 6197 broad.mit.edu 37 X 20211697 20211697 + Missense_Mutation SNP T T A TCGA-BA-5556-01A-01D-1512-08 TCGA-BA-5556-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d31fda32-363b-44e4-8f2c-834a66f46b87 39b1a5f5-ffcd-4af3-8a6f-3c71f1496df7 g.chrX:20211697T>A uc004czu.2 - 7 501 c.501A>T c.(499-501)GAA>GAT p.E167D RPS6KA3_uc011mjk.1_Missense_Mutation_p.E138D|RPS6KA3_uc004czv.2_Missense_Mutation_p.E155D|RPS6KA3_uc011mjl.1_Missense_Mutation_p.E139D|RPS6KA3_uc011mjm.1_Missense_Mutation_p.E139D NM_004586 NP_004577 P51812 KS6A3_HUMAN ribosomal protein S6 kinase, 90kDa, polypeptide 167 Protein kinase 1. axon guidance|central nervous system development|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|skeletal system development|stress-activated MAPK cascade|synaptic transmission|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|nucleoplasm ATP binding|caspase inhibitor activity|magnesium ion binding|protein serine/threonine kinase activity central_nervous_system(4)|stomach(1)|ovary(1)|lung(1)|breast(1) 8 TGACATCTTCTTCTGTGAACA 0.294 NA 6 78 0 0 0 0 MED12 9968 broad.mit.edu 37 X 70349995 70349995 + Silent SNP T T C TCGA-BA-5556-01A-01D-1512-08 TCGA-BA-5556-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d31fda32-363b-44e4-8f2c-834a66f46b87 39b1a5f5-ffcd-4af3-8a6f-3c71f1496df7 g.chrX:70349995T>C uc004dyy.2 + 28 4177 c.3978T>C c.(3976-3978)TAT>TAC p.Y1326Y MED12_uc011mpq.1_Silent_p.Y1326Y|MED12_uc004dyz.2_Silent_p.Y1326Y|MED12_uc004dza.2_Silent_p.Y1173Y|MED12_uc010nla.2_5'UTR NM_005120 NP_005111 Q93074 MED12_HUMAN mediator complex subunit 12 1326 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) TCATTTGCTATCCACATCGAC 0.572 NA 4 29 0 0 0 0 ATRX 546 broad.mit.edu 37 X 76814235 76814235 + Missense_Mutation SNP C C T TCGA-BA-5556-01A-01D-1512-08 TCGA-BA-5556-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d31fda32-363b-44e4-8f2c-834a66f46b87 39b1a5f5-ffcd-4af3-8a6f-3c71f1496df7 g.chrX:76814235C>T uc004ecp.3 - 29 6641 c.6409G>A c.(6409-6411)GCT>ACT p.A2137T ATRX_uc004ecq.3_Missense_Mutation_p.A2099T|ATRX_uc004eco.3_Missense_Mutation_p.A1922T NM_000489 NP_000480 P46100 ATRX_HUMAN transcriptional regulator ATRX isoform 1 2137 Helicase C-terminal. DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent nuclear heterochromatin ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding haematopoietic_and_lymphoid_tissue(14)|pancreas(12)|lung(1)|breast(1)|skin(1)|kidney(1) 30 Phosphatidylserine(DB00144) TTCCAAGAAGCGTCGAATATA 0.353 NA Mis|F|N Pancreatic neuroendocrine tumors ATR-X (alpha thalassemia/mental retardation) syndrome 28 170 0 0 0 0 ATRX 546 broad.mit.edu 37 X 76939409 76939409 + Missense_Mutation SNP C C T TCGA-BA-5556-01A-01D-1512-08 TCGA-BA-5556-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d31fda32-363b-44e4-8f2c-834a66f46b87 39b1a5f5-ffcd-4af3-8a6f-3c71f1496df7 g.chrX:76939409C>T uc004ecp.3 - 9 1571 c.1339G>A c.(1339-1341)GAA>AAA p.E447K ATRX_uc004ecq.3_Missense_Mutation_p.E409K|ATRX_uc004eco.3_Missense_Mutation_p.E232K|ATRX_uc004ecr.2_Missense_Mutation_p.E408K|ATRX_uc010nlx.1_Missense_Mutation_p.E447K|ATRX_uc010nly.1_Missense_Mutation_p.E392K NM_000489 NP_000480 P46100 ATRX_HUMAN transcriptional regulator ATRX isoform 1 447 DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent nuclear heterochromatin ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding haematopoietic_and_lymphoid_tissue(14)|pancreas(12)|lung(1)|breast(1)|skin(1)|kidney(1) 30 Phosphatidylserine(DB00144) CAAGGTTTTTCTCCTTTTCGT 0.363 NA Mis|F|N Pancreatic neuroendocrine tumors ATR-X (alpha thalassemia/mental retardation) syndrome 60 379 0 0 0 0 PGAM4 441531 broad.mit.edu 37 X 77224509 77224509 + Silent SNP G G A TCGA-BA-5556-01A-01D-1512-08 TCGA-BA-5556-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d31fda32-363b-44e4-8f2c-834a66f46b87 39b1a5f5-ffcd-4af3-8a6f-3c71f1496df7 g.chrX:77224509G>A uc004ecy.1 - 1 627 c.627C>T c.(625-627)AAC>AAT p.N209N ATP7A_uc004ecw.2_Intron|ATP7A_uc004ecx.3_Intron NM_001029891 NP_001025062 Q8N0Y7 PGAM4_HUMAN bisphosphoglycerate mutase 4 209 glycolysis 2,3-bisphospho-D-glycerate 2-phosphohydrolase activity|bisphosphoglycerate mutase activity|phosphoglycerate mutase activity 0 CAGTCGGCAGGTTCAGCTCCA 0.527 NA 11 232 0 0 0 0 GPRASP1 9737 broad.mit.edu 37 X 101909693 101909693 + Missense_Mutation SNP G G T TCGA-BA-5556-01A-01D-1512-08 TCGA-BA-5556-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d31fda32-363b-44e4-8f2c-834a66f46b87 39b1a5f5-ffcd-4af3-8a6f-3c71f1496df7 g.chrX:101909693G>T uc004ejj.3 + 5 1653 c.852G>T c.(850-852)AGG>AGT p.R284S GPRASP1_uc004eji.3_Missense_Mutation_p.R284S|GPRASP1_uc010nod.2_Missense_Mutation_p.R284S NM_014710 NP_055525 Q5JY77 GASP1_HUMAN G protein-coupled receptor associated sorting 284 cytoplasm protein binding ovary(1)|lung(1) 2 GCAGGTCCAGGTTTAGGTCTA 0.483 NA 19 241 1.56e-12 1.8e-12 1 0 RAB40A 142684 broad.mit.edu 37 X 102755663 102755663 + Missense_Mutation SNP C C A TCGA-BA-5556-01A-01D-1512-08 TCGA-BA-5556-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d31fda32-363b-44e4-8f2c-834a66f46b87 39b1a5f5-ffcd-4af3-8a6f-3c71f1496df7 g.chrX:102755663C>A uc004ekk.2 - 3 364 c.22G>T c.(22-24)GAC>TAC p.D8Y NM_080879 NP_543155 Q8WXH6 RB40A_HUMAN RAB40A, member RAS oncogene family 8 protein transport|small GTPase mediated signal transduction plasma membrane GTP binding 0 TAGGCCTGGTCGGGGCTGCCC 0.667 NA 12 81 5.17e-11 5.88e-11 1 0 WDR44 54521 broad.mit.edu 37 X 117582909 117582909 + Missense_Mutation SNP G G A TCGA-BA-5556-01A-01D-1512-08 TCGA-BA-5556-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d31fda32-363b-44e4-8f2c-834a66f46b87 39b1a5f5-ffcd-4af3-8a6f-3c71f1496df7 g.chrX:117582909G>A uc004eqn.2 + 20 3126 c.2701G>A c.(2701-2703)GCA>ACA p.A901T WDR44_uc004eqo.2_Missense_Mutation_p.A893T|WDR44_uc011mtr.1_Missense_Mutation_p.A812T|WDR44_uc010nqi.2_3'UTR NM_019045 NP_061918 Q5JSH3 WDR44_HUMAN WD repeat domain 44 protein 901 WD 7. cytosol|endosome membrane|Golgi apparatus|perinuclear region of cytoplasm lung(2)|upper_aerodigestive_tract(1)|ovary(1)|pancreas(1) 5 CTTCACTGGAGCAATCAAAGT 0.254 NA 16 91 0 0 0 0 CT47B1 643311 broad.mit.edu 37 X 120008795 120008795 + Missense_Mutation SNP G G A TCGA-BA-5556-01A-01D-1512-08 TCGA-BA-5556-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d31fda32-363b-44e4-8f2c-834a66f46b87 39b1a5f5-ffcd-4af3-8a6f-3c71f1496df7 g.chrX:120008795G>A uc011muc.1 - 1 985 c.730C>T c.(730-732)CCG>TCG p.P244S NM_001145718 NP_001139190 P0C2W7 CT47B_HUMAN cancer/testis antigen family 147, member B1 244 0 TCTGCGGCCGGTtcctctgtg 0.547 NA 34 197 0 0 0 0 PNMA5 114824 broad.mit.edu 37 X 152159412 152159412 + Missense_Mutation SNP G G T TCGA-BA-5556-01A-01D-1512-08 TCGA-BA-5556-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d31fda32-363b-44e4-8f2c-834a66f46b87 39b1a5f5-ffcd-4af3-8a6f-3c71f1496df7 g.chrX:152159412G>T uc010ntw.2 - 3 1070 c.731C>A c.(730-732)TCT>TAT p.S244Y PNMA5_uc004fha.3_Missense_Mutation_p.S244Y|PNMA5_uc010ntx.2_Missense_Mutation_p.S244Y|PNMA5_uc004fgy.3_Missense_Mutation_p.S244Y NM_001103151 NP_001096621 Q96PV4 PNMA5_HUMAN paraneoplastic antigen like 5 244 apoptosis ovary(1)|skin(1) 2 Acute lymphoblastic leukemia(192;6.56e-05) CCTAAACTGAGAGGCTCTAAA 0.522 NA 30 184 3e-07 3.34e-07 1 0 PNMA3 29944 broad.mit.edu 37 X 152226640 152226640 + Missense_Mutation SNP C C T TCGA-BA-5556-01A-01D-1512-08 TCGA-BA-5556-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d31fda32-363b-44e4-8f2c-834a66f46b87 39b1a5f5-ffcd-4af3-8a6f-3c71f1496df7 g.chrX:152226640C>T uc004fhc.2 + 2 1564 c.1228C>T c.(1228-1230)CGC>TGC p.R410C PNMA5_uc004fha.3_5'Flank|PNMA3_uc004fhd.2_5'Flank NM_013364 NP_037496 Q9UL41 PNMA3_HUMAN paraneoplastic cancer-testis-brain antigen 410 Arg-rich. apoptosis nucleolus nucleic acid binding|zinc ion binding skin(2)|large_intestine(1) 3 Acute lymphoblastic leukemia(192;6.56e-05) AAAACGGAAACGCCACACATT 0.597 NA 16 137 0 0 0 0 MYCBP2 23077 broad.mit.edu 37 13 77625189 77625190 + Frame_Shift_Ins INS - - A TCGA-BA-5556-01A-01D-1512-08 TCGA-BA-5556-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d31fda32-363b-44e4-8f2c-834a66f46b87 39b1a5f5-ffcd-4af3-8a6f-3c71f1496df7 g.chr13:77625189_77625190insA uc001vkf.2 - 83 13840_13841 c.13749_13750insT c.(13747-13752)CATGATfs p.H4583fs MYCBP2_uc010aev.2_Frame_Shift_Ins_p.H3987fs|MYCBP2_uc001vke.2_Frame_Shift_Ins_p.H1200fs NM_015057 NP_055872 O75592 MYCB2_HUMAN MYC binding protein 2 4583_4584 B box-type. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ligase activity|protein binding|zinc ion binding ovary(4)|breast(4)|skin(3)|lung(2)|pancreas(1) 14 Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22) GBM - Glioblastoma multiforme(99;0.109) TGAAAATCATCATGACAAGCAT 0.347 NA 23 138 --- --- --- --- NA NA NA NA JUB 84962 broad.mit.edu 37 14 23450566 23450567 + Frame_Shift_Ins INS - - C TCGA-BA-5556-01A-01D-1512-08 TCGA-BA-5556-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d31fda32-363b-44e4-8f2c-834a66f46b87 39b1a5f5-ffcd-4af3-8a6f-3c71f1496df7 g.chr14:23450566_23450567insC uc001whz.2 - 1 1285_1286 c.909_910insG c.(907-912)GGGATTfs p.G303fs NM_032876 NP_116265 Q96IF1 JUB_HUMAN ajuba isoform 1 303_304 PreLIM. cell cycle|gene silencing by miRNA|positive regulation of protein complex assembly cell-cell junction|cytoplasmic mRNA processing body|microtubule organizing center alpha-catenin binding|zinc ion binding 0 all_cancers(95;4.6e-05) GBM - Glioblastoma multiforme(265;0.0122) GACGGCTCAATCCCCGAGGGTT 0.703 NA 9 49 --- --- --- --- NA NA NA NA TP53BP1 7158 broad.mit.edu 37 15 43701208 43701209 + Frame_Shift_Ins INS - - G TCGA-BA-5556-01A-01D-1512-08 TCGA-BA-5556-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d31fda32-363b-44e4-8f2c-834a66f46b87 39b1a5f5-ffcd-4af3-8a6f-3c71f1496df7 g.chr15:43701208_43701209insG uc001zrs.2 - 26 5619_5620 c.5471_5472insC c.(5470-5472)CCTfs p.P1824fs TP53BP1_uc010udp.1_Frame_Shift_Ins_p.P1822fs|TP53BP1_uc001zrq.3_Frame_Shift_Ins_p.P1827fs|TP53BP1_uc001zrr.3_Frame_Shift_Ins_p.P1829fs|TP53BP1_uc001zrp.2_Frame_Shift_Ins_p.P241fs NM_005657 NP_005648 Q12888 TP53B_HUMAN tumor protein p53 binding protein 1 isoform 3 1824 BRCT 1. double-strand break repair via homologous recombination|positive regulation of transcription from RNA polymerase II promoter condensed chromosome kinetochore|cytoplasm|nucleoplasm p53 binding|RNA polymerase II activating transcription factor binding|RNA polymerase II transcription cofactor activity ovary(2)|skin(2)|large_intestine(1)|pancreas(1)|kidney(1) 7 all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728) GBM - Glioblastoma multiforme(94;1.59e-06) GAGACACACAAGGAATCCCACT 0.49 NA Direct_reversal_of_damage|Other_conserved_DNA_damage_response_genes 16 123 --- --- --- --- NA NA NA NA WWP1 11059 broad.mit.edu 37 8 87470164 87470165 + Frame_Shift_Ins INS - - A TCGA-BA-5556-01A-01D-1512-08 TCGA-BA-5556-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d31fda32-363b-44e4-8f2c-834a66f46b87 39b1a5f5-ffcd-4af3-8a6f-3c71f1496df7 g.chr8:87470164_87470165insA uc003ydt.2 + 22 2689_2690 c.2409_2410insA c.(2407-2412)GGCATGfs p.G803fs NM_007013 NP_008944 Q9H0M0 WWP1_HUMAN WW domain containing E3 ubiquitin protein ligase 803_804 HECT. M->P: Strongly reduces ubiquitin transfer; when associated with P-806. central nervous system development|entry of virus into host cell|negative regulation of transcription, DNA-dependent|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|signal transduction cytoplasm|nucleus|plasma membrane|ubiquitin ligase complex protein binding|ubiquitin-protein ligase activity lung(1)|liver(1) 2 TGTTGTGTGGCATGCAGGAGGT 0.376 NA 32 194 --- --- --- --- NA NA NA NA