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 SKI 6497 broad.mit.edu 37 1 2234792 2234792 + Silent SNP G A A TCGA-19-5959-01A-11D-1696-08 TCGA-19-5959-11A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx dd3e4733-7154-4162-9a61-a3a685e5f561 3a0f00b9-668f-4afb-8d07-998ed98c2181 g.chr1:2234792G>A uc001aja.3 + 3 1236 c.1164G>A c.(1162-1164)GCG>GCA p.A388A NM_003036 NP_003027 P12755 SKI_HUMAN v-ski sarcoma viral oncogene homolog 388 anterior/posterior axis specification|BMP signaling pathway|bone morphogenesis|cell motility|cell proliferation|embryonic limb morphogenesis|face morphogenesis|lens morphogenesis in camera-type eye|myelination in peripheral nervous system|myotube differentiation|negative regulation of activin receptor signaling pathway|negative regulation of BMP signaling pathway|negative regulation of fibroblast proliferation|negative regulation of osteoblast differentiation|negative regulation of Schwann cell proliferation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|neural tube closure|nose morphogenesis|olfactory bulb development|palate development|positive regulation of DNA binding|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|protein homotrimerization|regulation of apoptosis|retina development in camera-type eye|skeletal muscle fiber development|SMAD protein signal transduction|somatic stem cell maintenance|transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway cytoplasm|PML body|transcription factor complex|transcriptional repressor complex histone deacetylase inhibitor activity|nucleotide binding|protein domain specific binding|protein kinase binding|repressing transcription factor binding|SMAD binding|transcription corepressor activity|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding lung(1)|central_nervous_system(1) 2 all_cancers(77;0.000139)|all_epithelial(69;4.45e-05)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) Epithelial(90;2.14e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.72e-29)|GBM - Glioblastoma multiforme(42;2.45e-08)|Colorectal(212;5.33e-05)|COAD - Colon adenocarcinoma(227;0.000228)|Kidney(185;0.00268)|BRCA - Breast invasive adenocarcinoma(365;0.00471)|STAD - Stomach adenocarcinoma(132;0.0147)|KIRC - Kidney renal clear cell carcinoma(229;0.0385)|Lung(427;0.207) CAGTGTCAGCGAGTGAGAAAG 0.622 HIVEP3 59269 broad.mit.edu 37 1 42048030 42048030 + Silent SNP C T T TCGA-19-5959-01A-11D-1696-08 TCGA-19-5959-11A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx dd3e4733-7154-4162-9a61-a3a685e5f561 3a0f00b9-668f-4afb-8d07-998ed98c2181 g.chr1:42048030C>T uc001cgz.3 - 4 3652 c.2439G>A c.(2437-2439)GAG>GAA p.E813E HIVEP3_uc001cha.3_Silent_p.E813E|HIVEP3_uc001cgy.2_RNA NM_024503 NP_078779 Q5T1R4 ZEP3_HUMAN human immunodeficiency virus type I enhancer 813 Ser-rich.|No DNA binding activity or transactivation activity, but complete prevention of TRAF-dependent NF-Kappa-B activation; associates with TRAF2 and JUN (By similarity). positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus zinc ion binding ovary(4)|large_intestine(1)|central_nervous_system(1) 6 Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0367) CACTCGGCTGCTCGAGAGAAT 0.557 ZYG11B 79699 broad.mit.edu 37 1 53250588 53250588 + Missense_Mutation SNP C T T TCGA-19-5959-01A-11D-1696-08 TCGA-19-5959-11A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx dd3e4733-7154-4162-9a61-a3a685e5f561 3a0f00b9-668f-4afb-8d07-998ed98c2181 g.chr1:53250588C>T uc001cuj.2 + 5 1327 c.1132C>T c.(1132-1134)CCA>TCA p.P378S ZYG11B_uc009vzg.2_RNA|ZYG11B_uc010onj.1_Missense_Mutation_p.P369S NM_024646 NP_078922 Q9C0D3 ZY11B_HUMAN zyg-11 homolog B 378 protein binding upper_aerodigestive_tract(2)|ovary(1)|pancreas(1) 4 TATGAATTTGCCAGTGCAACT 0.458 PCSK9 255738 broad.mit.edu 37 1 55527067 55527067 + Silent SNP G A A TCGA-19-5959-01A-11D-1696-08 TCGA-19-5959-11A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx dd3e4733-7154-4162-9a61-a3a685e5f561 3a0f00b9-668f-4afb-8d07-998ed98c2181 g.chr1:55527067G>A uc001cyf.1 + 11 1992 c.1701G>A c.(1699-1701)GAG>GAA p.E567E PCSK9_uc010oom.1_RNA NM_174936 NP_777596 Q8NBP7 PCSK9_HUMAN proprotein convertase subtilisin/kexin type 9 567 cellular response to insulin stimulus|cellular response to starvation|cholesterol homeostasis|cholesterol metabolic process|kidney development|liver development|low-density lipoprotein particle receptor catabolic process|lysosomal transport|negative regulation of catalytic activity|negative regulation of low-density lipoprotein particle clearance|negative regulation of receptor recycling|neuron differentiation|positive regulation of neuron apoptosis|positive regulation of receptor internalization|protein autoprocessing|regulation of receptor activity extracellular space|late endosome|lysosome|perinuclear region of cytoplasm apolipoprotein receptor binding|identical protein binding|low-density lipoprotein particle receptor binding|serine-type endopeptidase activity|very-low-density lipoprotein particle receptor binding ovary(2)|central_nervous_system(1)|skin(1) 4 CCCACTGGGAGGTGGAGGACC 0.642 TACSTD2 4070 broad.mit.edu 37 1 59041860 59041860 + Silent SNP C T T TCGA-19-5959-01A-11D-1696-08 TCGA-19-5959-11A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx dd3e4733-7154-4162-9a61-a3a685e5f561 3a0f00b9-668f-4afb-8d07-998ed98c2181 g.chr1:59041860C>T uc001cyz.3 - 1 1307 c.969G>A c.(967-969)TTG>TTA p.L323L NM_002353 NP_002344 P09758 TACD2_HUMAN tumor-associated calcium signal transducer 2 323 Cytoplasmic (Potential). cell proliferation|cell surface receptor linked signaling pathway|visual perception cytosol|integral to plasma membrane receptor activity 0 all_cancers(7;6.54e-05) CGGGTACCTACAAGCTCGGTT 0.537 DDX20 11218 broad.mit.edu 37 1 112305594 112305594 + Missense_Mutation SNP C T T TCGA-19-5959-01A-11D-1696-08 TCGA-19-5959-11A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx dd3e4733-7154-4162-9a61-a3a685e5f561 3a0f00b9-668f-4afb-8d07-998ed98c2181 g.chr1:112305594C>T uc001ebs.2 + 10 1634 c.1277C>T c.(1276-1278)GCC>GTC p.A426V DDX20_uc010owf.1_Missense_Mutation_p.A188V|DDX20_uc001ebt.2_Missense_Mutation_p.A34V NM_007204 NP_009135 Q9UHI6 DDX20_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 20 426 Helicase C-terminal. assembly of spliceosomal tri-snRNP|ncRNA metabolic process Cajal body|cytoskeleton|cytosol|spliceosomal complex ATP binding|ATP-dependent RNA helicase activity|DNA binding|protein binding lung(1)|kidney(1) 2 all_cancers(81;1.06e-05)|all_epithelial(167;7.36e-06)|all_lung(203;2.44e-05)|Lung NSC(69;4.15e-05) Lung(183;0.0234)|Colorectal(144;0.0282)|all cancers(265;0.0614)|Epithelial(280;0.0999)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133) ATGAGAATTGCCCAGAAATGT 0.353 NBPF10 100132406 broad.mit.edu 37 1 145367767 145367767 + Missense_Mutation SNP G A A rs77484671 TCGA-19-5959-01A-11D-1696-08 TCGA-19-5959-11A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx dd3e4733-7154-4162-9a61-a3a685e5f561 3a0f00b9-668f-4afb-8d07-998ed98c2181 g.chr1:145367767G>A uc001end.3 + 85 10623 c.10588G>A c.(10588-10590)GAA>AAA p.E3530K NBPF9_uc010oye.1_Intron|NBPF10_uc001emp.3_Intron|NBPF10_uc010oyi.1_Intron|NBPF10_uc010oyk.1_Intron|NBPF10_uc010oyl.1_Intron NM_001039703 NP_001034792 A6NDV3 A6NDV3_HUMAN hypothetical protein LOC100132406 3455 0 all_hematologic(923;0.032) Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258) atcaaagaaggaaagaagaag 0.254 CRNN 49860 broad.mit.edu 37 1 152382359 152382359 + Missense_Mutation SNP G A A TCGA-19-5959-01A-11D-1696-08 TCGA-19-5959-11A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx dd3e4733-7154-4162-9a61-a3a685e5f561 3a0f00b9-668f-4afb-8d07-998ed98c2181 g.chr1:152382359G>A uc001ezx.2 - 3 1273 c.1199C>T c.(1198-1200)CCG>CTG p.P400L NM_016190 NP_057274 Q9UBG3 CRNN_HUMAN cornulin 400 cell-cell adhesion|response to heat cytoplasm|membrane calcium ion binding ovary(2)|skin(1) 3 Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.206) CTGTCCTCCCGGTACTGTCTC 0.612 CD1D 912 broad.mit.edu 37 1 158153825 158153825 + Missense_Mutation SNP C T T TCGA-19-5959-01A-11D-1696-08 TCGA-19-5959-11A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx dd3e4733-7154-4162-9a61-a3a685e5f561 3a0f00b9-668f-4afb-8d07-998ed98c2181 g.chr1:158153825C>T uc001frr.2 + 6 1485 c.986C>T c.(985-987)ACT>ATT p.T329I CD1D_uc009wss.2_Missense_Mutation_p.T236I NM_001766 NP_001757 P15813 CD1D_HUMAN CD1D antigen precursor 329 Cytoplasmic (Potential). antigen processing and presentation, endogenous lipid antigen via MHC class Ib|detection of bacterium|innate immune response|interspecies interaction between organisms|positive regulation of innate immune response|T cell selection endosome membrane|integral to plasma membrane|lysosomal membrane beta-2-microglobulin binding|exogenous lipid antigen binding|histone binding ovary(1) 1 all_hematologic(112;0.0378) AAGAGGCAAACGTAAGTCTCC 0.512 SERPINC1 462 broad.mit.edu 37 1 173883833 173883833 + Missense_Mutation SNP C T T TCGA-19-5959-01A-11D-1696-08 TCGA-19-5959-11A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx dd3e4733-7154-4162-9a61-a3a685e5f561 3a0f00b9-668f-4afb-8d07-998ed98c2181 g.chr1:173883833C>T uc001gjt.2 - 2 385 c.266G>A c.(265-267)CGC>CAC p.R89H NM_000488 NP_000479 P01008 ANT3_HUMAN serpin peptidase inhibitor, clade C, member 1 89 R -> C (in AT3D; type-I). blood coagulation|regulation of proteolysis extracellular space|plasma membrane heparin binding|protease binding|serine-type endopeptidase inhibitor activity ovary(1) 1 Enoxaparin(DB01225)|Fondaparinux sodium(DB00569)|Heparin(DB01109) GGTAGCAAAGCGGGAATTGGC 0.532 OREG0013990 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) PRG4 10216 broad.mit.edu 37 1 186280588 186280588 + Missense_Mutation SNP G A A TCGA-19-5959-01A-11D-1696-08 TCGA-19-5959-11A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx dd3e4733-7154-4162-9a61-a3a685e5f561 3a0f00b9-668f-4afb-8d07-998ed98c2181 g.chr1:186280588G>A uc001gru.3 + 10 3704 c.3653G>A c.(3652-3654)CGT>CAT p.R1218H PRG4_uc001grt.3_Missense_Mutation_p.R1177H|PRG4_uc009wyl.2_Missense_Mutation_p.R1125H|PRG4_uc009wym.2_Missense_Mutation_p.R1084H|PRG4_uc010poo.1_RNA NM_005807 NP_005798 Q92954 PRG4_HUMAN proteoglycan 4 isoform A 1218 Hemopexin-like 2. cell proliferation|immune response extracellular region polysaccharide binding|protein binding|scavenger receptor activity skin(1) 1 CAGTACTGGCGTTTTACCAAT 0.353 LHX9 56956 broad.mit.edu 37 1 197889248 197889248 + Silent SNP C T T TCGA-19-5959-01A-11D-1696-08 TCGA-19-5959-11A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx dd3e4733-7154-4162-9a61-a3a685e5f561 3a0f00b9-668f-4afb-8d07-998ed98c2181 g.chr1:197889248C>T uc001guk.1 + 2 758 c.321C>T c.(319-321)TCC>TCT p.S107S LHX9_uc001gui.1_Silent_p.S98S|LHX9_uc001guj.1_Silent_p.S113S NM_020204 NP_064589 Q9NQ69 LHX9_HUMAN LIM homeobox 9 isoform 1 107 LIM zinc-binding 1. motor axon guidance|negative regulation of transcription, DNA-dependent nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding ovary(1) 1 CCCTCGAGTCCGAGCTCACCT 0.557 OBSCN 84033 broad.mit.edu 37 1 228509734 228509734 + Silent SNP G A A TCGA-19-5959-01A-11D-1696-08 TCGA-19-5959-11A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx dd3e4733-7154-4162-9a61-a3a685e5f561 3a0f00b9-668f-4afb-8d07-998ed98c2181 g.chr1:228509734G>A uc009xez.1 + 55 15236 c.15192G>A c.(15190-15192)GCG>GCA p.A5064A OBSCN_uc001hsn.2_Silent_p.A5064A NM_001098623 NP_001092093 Q5VST9 OBSCN_HUMAN obscurin, cytoskeletal calmodulin and 5064 apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|M band|Z disc ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding stomach(8)|large_intestine(7)|breast(5)|ovary(4)|skin(2)|central_nervous_system(1)|pancreas(1) 28 Prostate(94;0.0405) GTTTTGAGGCGCTCACTGAGG 0.612 C10orf53 282966 broad.mit.edu 37 10 50901822 50901822 + Missense_Mutation SNP G T T TCGA-19-5959-01A-11D-1696-08 TCGA-19-5959-11A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx dd3e4733-7154-4162-9a61-a3a685e5f561 3a0f00b9-668f-4afb-8d07-998ed98c2181 g.chr10:50901822G>T uc001jib.2 + 2 160 c.100G>T c.(100-102)GTG>TTG p.V34L CHAT_uc010qgs.1_Silent_p.L542L|C10orf53_uc001jic.1_Missense_Mutation_p.V34L|C10orf53_uc001jid.1_Missense_Mutation_p.V34L NM_001042427 NP_001035892 Q8N6V4 CJ053_HUMAN chromosome 10 open reading frame 53 isoform b 34 0 all_neural(218;0.107) CTTCCCAGCTGTGTTGGCCAT 0.468 STOX1 219736 broad.mit.edu 37 10 70644150 70644150 + Nonsense_Mutation SNP C T T TCGA-19-5959-01A-11D-1696-08 TCGA-19-5959-11A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx dd3e4733-7154-4162-9a61-a3a685e5f561 3a0f00b9-668f-4afb-8d07-998ed98c2181 g.chr10:70644150C>T uc001jos.2 + 3 685 c.598C>T c.(598-600)CAG>TAG p.Q200* STOX1_uc001jor.2_Nonsense_Mutation_p.Q200*|STOX1_uc009xpy.2_Intron|STOX1_uc001joq.2_Nonsense_Mutation_p.Q90* NM_001130161 NP_001123633 Q6ZVD7 STOX1_HUMAN storkhead box 1 isoform a 200 cytoplasm|nucleolus DNA binding kidney(1)|skin(1) 2 TACAACCACCCAGGAAAATAA 0.443 PTEN 5728 broad.mit.edu 37 10 89692810 89692810 + Frame_Shift_Del DEL A - - TCGA-19-5959-01A-11D-1696-08 TCGA-19-5959-11A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx dd3e4733-7154-4162-9a61-a3a685e5f561 3a0f00b9-668f-4afb-8d07-998ed98c2181 g.chr10:89692810delA uc001kfb.2 + 6 1325 c.294delA c.(292-294)CTAfs p.L98fs NM_000314 NP_000305 P60484 PTEN_HUMAN phosphatase and tensin homolog 98 Phosphatase tensin-type. activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway cytosol|internal side of plasma membrane|PML body anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity p.R55fs*1(4)|p.?(2)|p.Y27fs*1(2)|p.Y27_N212>Y(2)|p.H93fs*5(1)|p.F56fs*2(1) endometrium(831)|central_nervous_system(657)|skin(121)|haematopoietic_and_lymphoid_tissue(101)|large_intestine(99)|prostate(97)|breast(73)|lung(65)|ovary(58)|thyroid(29)|stomach(29)|upper_aerodigestive_tract(25)|cervix(24)|liver(20)|vulva(17)|kidney(15)|NS(14)|soft_tissue(13)|urinary_tract(12)|eye(8)|pancreas(6)|salivary_gland(5)|bone(5)|biliary_tract(4)|autonomic_ganglia(2)|meninges(2)|testis(1)|oesophagus(1) 2334 all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132) KIRC - Kidney renal clear cell carcinoma(1;0.214) UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218) CACCACAGCTAGAACTTATCA 0.358 31 D|Mis|N|F|S glioma| prostate|endometrial harmartoma|glioma| prostate|endometrial Proteus_syndrome|Cowden_syndrome|Juvenile_Polyposis|Hereditary_Mixed_Polyposis_Syndrome_type_1|Bannayan-Riley-Ruvalcaba_syndrome HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18) IFITM3 10410 broad.mit.edu 37 11 320606 320606 + Missense_Mutation SNP G T T rs149004156 by1000genomes TCGA-19-5959-01A-11D-1696-08 TCGA-19-5959-11A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx dd3e4733-7154-4162-9a61-a3a685e5f561 3a0f00b9-668f-4afb-8d07-998ed98c2181 g.chr11:320606G>T uc001lpa.2 - 1 309 c.208C>A c.(208-210)CCC>ACC p.P70T uc001loz.2_Intron NM_021034 NP_066362 Q01628 IFM3_HUMAN interferon-induced transmembrane protein 3 70 Interaction with SPP1.|Helical; (Potential). response to virus|type I interferon-mediated signaling pathway integral to membrane|plasma membrane p.P70T(1) central_nervous_system(7) 7 all_cancers(49;2e-09)|all_epithelial(84;3.36e-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;8.85e-28)|Epithelial(43;5.52e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0327)|LUSC - Lung squamous cell carcinoma(625;0.122) AGGCAGCAGGGGTTCATGAAG 0.632 KRTAP5-4 387267 broad.mit.edu 37 11 1643251 1643251 + Missense_Mutation SNP C T T TCGA-19-5959-01A-11D-1696-08 TCGA-19-5959-11A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx dd3e4733-7154-4162-9a61-a3a685e5f561 3a0f00b9-668f-4afb-8d07-998ed98c2181 g.chr11:1643251C>T uc009ycy.1 - 1 118 c.31G>A c.(31-33)GGC>AGC p.G11S NM_001012709 NP_001012727 Q6L8H1 KRA54_HUMAN keratin associated protein 5-4 25 keratin filament 0 all_epithelial(84;0.00819)|Breast(177;0.00832)|Ovarian(85;0.0256)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762) BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082) cagccagagccacagccccca 0.259 SLC6A5 9152 broad.mit.edu 37 11 20636272 20636272 + Missense_Mutation SNP A T T TCGA-19-5959-01A-11D-1696-08 TCGA-19-5959-11A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx dd3e4733-7154-4162-9a61-a3a685e5f561 3a0f00b9-668f-4afb-8d07-998ed98c2181 g.chr11:20636272A>T uc001mqd.2 + 6 1306 c.1033A>T c.(1033-1035)ACT>TCT p.T345S SLC6A5_uc009yic.2_Missense_Mutation_p.T110S NM_004211 NP_004202 Q9Y345 SC6A5_HUMAN solute carrier family 6 (neurotransmitter 345 Extracellular (Potential). synaptic transmission integral to membrane|plasma membrane glycine:sodium symporter activity|neurotransmitter:sodium symporter activity ovary(2)|breast(1)|skin(1) 4 Glycine(DB00145) CAAGAACTCGACTTTCTGCAT 0.403 OR8H3 390152 broad.mit.edu 37 11 55890213 55890213 + Missense_Mutation SNP G A A TCGA-19-5959-01A-11D-1696-08 TCGA-19-5959-11A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx dd3e4733-7154-4162-9a61-a3a685e5f561 3a0f00b9-668f-4afb-8d07-998ed98c2181 g.chr11:55890213G>A uc001nii.1 + 1 365 c.365G>A c.(364-366)CGC>CAC p.R122H NM_001005201 NP_001005201 Q8N146 OR8H3_HUMAN olfactory receptor, family 8, subfamily H, 122 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2) 2 Esophageal squamous(21;0.00693) GCCTATGATCGCTATGCAGCG 0.468 OR5A1 219982 broad.mit.edu 37 11 59210760 59210760 + Missense_Mutation SNP C T T TCGA-19-5959-01A-11D-1696-08 TCGA-19-5959-11A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx dd3e4733-7154-4162-9a61-a3a685e5f561 3a0f00b9-668f-4afb-8d07-998ed98c2181 g.chr11:59210760C>T uc001nnx.1 + 1 119 c.119C>T c.(118-120)ACC>ATC p.T40I NM_001004728 NP_001004728 Q8NGJ0 OR5A1_HUMAN olfactory receptor, family 5, subfamily A, 40 Helical; Name=1; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|central_nervous_system(1) 2 ATCTATCTTACCACCCTGGCC 0.502 C11orf66 220004 broad.mit.edu 37 11 61249365 61249365 + Silent SNP C T T TCGA-19-5959-01A-11D-1696-08 TCGA-19-5959-11A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx dd3e4733-7154-4162-9a61-a3a685e5f561 3a0f00b9-668f-4afb-8d07-998ed98c2181 g.chr11:61249365C>T uc001nru.1 + 2 209 c.84C>T c.(82-84)TAC>TAT p.Y28Y C11orf66_uc009ynq.1_Silent_p.Y28Y NM_145017 NP_659454 Q7Z5V6 CK066_HUMAN IIIG9 protein 28 ovary(1) 1 TGAAATTCTACGCCACCAGCT 0.622 OVOL1 5017 broad.mit.edu 37 11 65561705 65561705 + Missense_Mutation SNP C T T TCGA-19-5959-01A-11D-1696-08 TCGA-19-5959-11A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx dd3e4733-7154-4162-9a61-a3a685e5f561 3a0f00b9-668f-4afb-8d07-998ed98c2181 g.chr11:65561705C>T uc001ofp.2 + 2 620 c.304C>T c.(304-306)CGC>TGC p.R102C OVOL1_uc001ofq.2_Missense_Mutation_p.R40C NM_004561 NP_004552 O14753 OVOL1_HUMAN OVO-like 1 binding protein 102 transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(1) 1 READ - Rectum adenocarcinoma(159;0.17) TGGCTTCCTGCGCACCAAGAT 0.612 KRTAP5-8 57830 broad.mit.edu 37 11 71249153 71249153 + Missense_Mutation SNP G A A TCGA-19-5959-01A-11D-1696-08 TCGA-19-5959-11A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx dd3e4733-7154-4162-9a61-a3a685e5f561 3a0f00b9-668f-4afb-8d07-998ed98c2181 g.chr11:71249153G>A uc001oqr.1 + 1 83 c.52G>A c.(52-54)GGC>AGC p.G18S NM_021046 NP_066384 O75690 KRA58_HUMAN keratin associated protein 5-8 18 extracellular region|keratin filament structural constituent of epidermis 0 TGGGGGCTGCGGCTCTGGCTG 0.652 ARRB1 408 broad.mit.edu 37 11 74979943 74979943 + Silent SNP C T T TCGA-19-5959-01A-11D-1696-08 TCGA-19-5959-11A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx dd3e4733-7154-4162-9a61-a3a685e5f561 3a0f00b9-668f-4afb-8d07-998ed98c2181 g.chr11:74979943C>T uc001owe.1 - 14 1305 c.1083G>A c.(1081-1083)CCG>CCA p.P361P ARRB1_uc001owf.1_Silent_p.P353P NM_004041 NP_004032 P49407 ARRB1_HUMAN arrestin beta 1 isoform A 361 Interaction with TRAF6. G-protein coupled receptor internalization|histone H4 acetylation|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein ubiquitination|platelet activation|positive regulation of ERK1 and ERK2 cascade|positive regulation of histone acetylation|positive regulation of Rho protein signal transduction|positive regulation of transcription from RNA polymerase II promoter|post-Golgi vesicle-mediated transport|proteasomal ubiquitin-dependent protein catabolic process|protein transport|protein ubiquitination|signal transduction|stress fiber assembly|transcription from RNA polymerase II promoter chromatin|coated pit|cytoplasmic vesicle membrane|cytosol|Golgi membrane|lysosomal membrane|membrane fraction|nucleus|plasma membrane|pseudopodium|soluble fraction angiotensin receptor binding|enzyme inhibitor activity|GTPase activator activity|insulin-like growth factor receptor binding|transcription factor binding|transcription regulatory region DNA binding|ubiquitin protein ligase binding breast(2) 2 CTTCCCGATGCGGGGGTTCCT 0.622 GRIN2B 2904 broad.mit.edu 37 12 13716218 13716218 + Silent SNP G C C TCGA-19-5959-01A-11D-1696-08 TCGA-19-5959-11A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx dd3e4733-7154-4162-9a61-a3a685e5f561 3a0f00b9-668f-4afb-8d07-998ed98c2181 g.chr12:13716218G>C uc001rbt.2 - 13 4133 c.3954C>G c.(3952-3954)GCC>GCG p.A1318A NM_000834 NP_000825 Q13224 NMDE2_HUMAN N-methyl-D-aspartate receptor subunit 2B 1318 Cytoplasmic (Potential). response to ethanol cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding central_nervous_system(4)|ovary(3)|skin(3)|lung(2) 12 Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043) CGCTGCGCGGGGCCAGGGCGG 0.587 OAS1 4938 broad.mit.edu 37 12 113346549 113346549 + Missense_Mutation SNP G A A TCGA-19-5959-01A-11D-1696-08 TCGA-19-5959-11A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx dd3e4733-7154-4162-9a61-a3a685e5f561 3a0f00b9-668f-4afb-8d07-998ed98c2181 g.chr12:113346549G>A uc001tud.2 + 2 495 c.389G>A c.(388-390)CGT>CAT p.R130H OAS1_uc010syn.1_Missense_Mutation_p.R129H|OAS1_uc010syo.1_Missense_Mutation_p.R129H|OAS1_uc001tub.2_Missense_Mutation_p.R130H|OAS1_uc001tuc.2_Missense_Mutation_p.R130H|OAS1_uc009zwf.2_Missense_Mutation_p.R129H NM_016816 NP_058132 P00973 OAS1_HUMAN 2',5'-oligoadenylate synthetase 1 isoform 1 130 Necessary for binding to dsRNA. interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway endoplasmic reticulum|microsome|mitochondrion|nucleus ATP binding|nucleotidyltransferase activity|RNA binding ovary(2) 2 GGCAACCCCCGTGCGCTCAGC 0.577 OR4K15 81127 broad.mit.edu 37 14 20443959 20443959 + Silent SNP C T T TCGA-19-5959-01A-11D-1696-08 TCGA-19-5959-11A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx dd3e4733-7154-4162-9a61-a3a685e5f561 3a0f00b9-668f-4afb-8d07-998ed98c2181 g.chr14:20443959C>T uc010tkx.1 + 1 282 c.282C>T c.(280-282)GAC>GAT p.D94D NM_001005486 NP_001005486 Q8NH41 OR4KF_HUMAN olfactory receptor, family 4, subfamily K, 94 Helical; Name=2; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;3.58e-06) GBM - Glioblastoma multiforme(265;0.00327) CATTTATAGACGTATGTGTTG 0.453 FLJ10357 55701 broad.mit.edu 37 14 21543075 21543075 + Missense_Mutation SNP G T T TCGA-19-5959-01A-11D-1696-08 TCGA-19-5959-11A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx dd3e4733-7154-4162-9a61-a3a685e5f561 3a0f00b9-668f-4afb-8d07-998ed98c2181 g.chr14:21543075G>T uc001vzp.2 + 3 1215 c.1186G>T c.(1186-1188)GAC>TAC p.D396Y FLJ10357_uc001vzn.1_Missense_Mutation_p.D396Y|FLJ10357_uc001vzo.1_Intron|FLJ10357_uc010aij.2_RNA|FLJ10357_uc010tln.1_5'UTR NM_018071 NP_060541 Q8TER5 ARH40_HUMAN hypothetical protein LOC55701 396 regulation of Rho protein signal transduction cytoplasm Rho guanyl-nucleotide exchange factor activity 0 all_cancers(95;0.00185) OV - Ovarian serous cystadenocarcinoma(11;5.79e-11)|Epithelial(56;8.35e-09)|all cancers(55;4.23e-08) GBM - Glioblastoma multiforme(265;0.0197) CCGAGGAGGGGACAGTGCCCC 0.597 CHD8 57680 broad.mit.edu 37 14 21871175 21871175 + Splice_Site SNP C T T TCGA-19-5959-01A-11D-1696-08 TCGA-19-5959-11A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx dd3e4733-7154-4162-9a61-a3a685e5f561 3a0f00b9-668f-4afb-8d07-998ed98c2181 g.chr14:21871175C>T uc001was.1 - 18 2971 c.2877_splice c.e18+1 p.Q959_splice CHD8_uc001war.1_Splice_Site_p.Q855_splice|CHD8_uc001wav.1_Splice_Site_p.Q401_splice NM_020920 NP_065971 Q9HCK8 CHD8_HUMAN chromodomain helicase DNA binding protein 8 ATP-dependent chromatin remodeling|canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent MLL1 complex ATP binding|beta-catenin binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity|methylated histone residue binding|p53 binding ovary(6)|upper_aerodigestive_tract(1)|large_intestine(1)|breast(1)|skin(1) 10 all_cancers(95;0.00121) Epithelial(56;2.55e-06)|all cancers(55;1.73e-05) GBM - Glioblastoma multiforme(265;0.00424) AATTCCTTTACCTGCAGGTCA 0.403 ACTN1 87 broad.mit.edu 37 14 69356891 69356891 + Missense_Mutation SNP C T T TCGA-19-5959-01A-11D-1696-08 TCGA-19-5959-11A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx dd3e4733-7154-4162-9a61-a3a685e5f561 3a0f00b9-668f-4afb-8d07-998ed98c2181 g.chr14:69356891C>T uc001xkl.2 - 11 1509 c.1199G>A c.(1198-1200)CGG>CAG p.R400Q ACTN1_uc001xkk.2_5'Flank|ACTN1_uc010ttb.1_Missense_Mutation_p.R335Q|ACTN1_uc001xkm.2_Missense_Mutation_p.R400Q|ACTN1_uc001xkn.2_Missense_Mutation_p.R400Q|ACTN1_uc001xko.1_Missense_Mutation_p.R335Q|ACTN1_uc010ttd.1_Missense_Mutation_p.R379Q NM_001102 NP_001093 P12814 ACTN1_HUMAN actinin, alpha 1 isoform b 400 Spectrin 2.|Interaction with DDN. focal adhesion assembly|negative regulation of cellular component movement|platelet activation|platelet degranulation|regulation of apoptosis actin cytoskeleton|cytosol|extracellular region|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium|sarcomere actin binding|calcium ion binding|integrin binding|vinculin binding central_nervous_system(1) 1 BRCA - Breast invasive adenocarcinoma(234;0.00605)|all cancers(60;0.00846)|OV - Ovarian serous cystadenocarcinoma(108;0.0654) GGCCTTCTGCCGGAACTTCTC 0.647 FMN1 342184 broad.mit.edu 37 15 33261285 33261285 + Missense_Mutation SNP C T T TCGA-19-5959-01A-11D-1696-08 TCGA-19-5959-11A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx dd3e4733-7154-4162-9a61-a3a685e5f561 3a0f00b9-668f-4afb-8d07-998ed98c2181 g.chr15:33261285C>T uc001zhf.3 - 4 1948 c.1948G>A c.(1948-1950)GCA>ACA p.A650T NM_001103184 NP_001096654 Q68DA7 FMN1_HUMAN formin 1 873 FH1.|Pro-rich. actin cytoskeleton organization actin cytoskeleton|adherens junction|cytoplasm|nucleus actin binding ovary(1) 1 all_lung(180;1.14e-07) all cancers(64;3.05e-15)|Epithelial(43;1.67e-10)|GBM - Glioblastoma multiforme(186;4.95e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0262) GGGATGGATGCGGGAGGCGGA 0.552 ITGA11 22801 broad.mit.edu 37 15 68643617 68643617 + Silent SNP G A A TCGA-19-5959-01A-11D-1696-08 TCGA-19-5959-11A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx dd3e4733-7154-4162-9a61-a3a685e5f561 3a0f00b9-668f-4afb-8d07-998ed98c2181 g.chr15:68643617G>A uc002ari.2 - 8 960 c.873C>T c.(871-873)AAC>AAT p.N291N ITGA11_uc010bib.2_Silent_p.N291N NM_001004439 NP_001004439 Q9UKX5 ITA11_HUMAN integrin, alpha 11 precursor 291 VWFA.|Extracellular (Potential). cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development integrin complex collagen binding|receptor activity kidney(2)|pancreas(1) 3 Tirofiban(DB00775) ATCTTGTTACGTTGTCTCTTT 0.552 CSPG4 1464 broad.mit.edu 37 15 75980091 75980091 + Silent SNP C T T TCGA-19-5959-01A-11D-1696-08 TCGA-19-5959-11A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx dd3e4733-7154-4162-9a61-a3a685e5f561 3a0f00b9-668f-4afb-8d07-998ed98c2181 g.chr15:75980091C>T uc002baw.2 - 3 3408 c.3315G>A c.(3313-3315)CTG>CTA p.L1105L NM_001897 NP_001888 Q6UVK1 CSPG4_HUMAN chondroitin sulfate proteoglycan 4 precursor 1105 Interaction with COL5A1 (By similarity).|Extracellular (Potential).|Gly/Ser-rich (glycosaminoglycan attachment domain).|CSPG 6. angiogenesis|cell differentiation|intracellular signal transduction|positive regulation of peptidyl-tyrosine phosphorylation|tissue remodeling apical plasma membrane|cell surface|integral to plasma membrane|intracellular|lamellipodium membrane protein kinase binding|signal transducer activity ovary(2)|pancreas(1) 3 CGGACACCTGCAGCTGGATCC 0.657 C15orf27 123591 broad.mit.edu 37 15 76430102 76430102 + Silent SNP C T T TCGA-19-5959-01A-11D-1696-08 TCGA-19-5959-11A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx dd3e4733-7154-4162-9a61-a3a685e5f561 3a0f00b9-668f-4afb-8d07-998ed98c2181 g.chr15:76430102C>T uc002bbq.2 + 3 248 c.93C>T c.(91-93)GAC>GAT p.D31D C15orf27_uc010bkp.2_Translation_Start_Site|C15orf27_uc002bbr.2_Translation_Start_Site NM_152335 NP_689548 Q2M3C6 CO027_HUMAN hypothetical protein LOC123591 31 integral to membrane 0 AACAAGTAGACGAAGAAACCA 0.537 C15orf26 161502 broad.mit.edu 37 15 81429012 81429012 + Silent SNP C T T TCGA-19-5959-01A-11D-1696-08 TCGA-19-5959-11A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx dd3e4733-7154-4162-9a61-a3a685e5f561 3a0f00b9-668f-4afb-8d07-998ed98c2181 g.chr15:81429012C>T uc002bgb.2 + 3 342 c.315C>T c.(313-315)GAC>GAT p.D105D C15orf26_uc010blp.1_Silent_p.D80D NM_173528 NP_775799 Q6P656 CO026_HUMAN hypothetical protein LOC161502 105 0 ATCTGAAAGACGAATTAGAGG 0.448 HAPLN3 145864 broad.mit.edu 37 15 89430480 89430480 + Missense_Mutation SNP C A A TCGA-19-5959-01A-11D-1696-08 TCGA-19-5959-11A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx dd3e4733-7154-4162-9a61-a3a685e5f561 3a0f00b9-668f-4afb-8d07-998ed98c2181 g.chr15:89430480C>A uc002bnc.2 - 2 178 c.50G>T c.(49-51)GGA>GTA p.G17V HAPLN3_uc002bne.2_RNA|HAPLN3_uc002bnd.2_Missense_Mutation_p.G79V NM_178232 NP_839946 Q96S86 HPLN3_HUMAN hyaluronan and proteoglycan link protein 3 17 cell adhesion proteinaceous extracellular matrix hyaluronic acid binding 0 Lung NSC(78;0.0392)|all_lung(78;0.077) GAAGGGCAGTCCGTAGGAGCC 0.642 GNPTG 84572 broad.mit.edu 37 16 1412483 1412483 + Missense_Mutation SNP G A A rs139997459 TCGA-19-5959-01A-11D-1696-08 TCGA-19-5959-11A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx dd3e4733-7154-4162-9a61-a3a685e5f561 3a0f00b9-668f-4afb-8d07-998ed98c2181 g.chr16:1412483G>A uc002clm.2 + 8 592 c.557G>A c.(556-558)CGG>CAG p.R186Q NM_032520 NP_115909 Q9UJJ9 GNPTG_HUMAN N-acetylglucosamine-1-phosphotransferase, gamma 186 extracellular region|Golgi apparatus protein binding central_nervous_system(1) 1 Hepatocellular(780;0.0893) GCCCTGCAGCGGCAGTGGGAC 0.682 TEKT5 146279 broad.mit.edu 37 16 10788509 10788509 + Silent SNP C T T TCGA-19-5959-01A-11D-1696-08 TCGA-19-5959-11A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx dd3e4733-7154-4162-9a61-a3a685e5f561 3a0f00b9-668f-4afb-8d07-998ed98c2181 g.chr16:10788509C>T uc002czz.1 - 1 294 c.222G>A c.(220-222)CCG>CCA p.P74P NM_144674 NP_653275 Q96M29 TEKT5_HUMAN tektin 5 74 microtubule cytoskeleton organization cilium axoneme|flagellar axoneme|microtubule ovary(2) 2 GGATGGTGGGCGGCCGCAGGG 0.642 ITGAM 3684 broad.mit.edu 37 16 31336846 31336846 + Missense_Mutation SNP G A A TCGA-19-5959-01A-11D-1696-08 TCGA-19-5959-11A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx dd3e4733-7154-4162-9a61-a3a685e5f561 3a0f00b9-668f-4afb-8d07-998ed98c2181 g.chr16:31336846G>A uc002ebq.2 + 21 2629 c.2531G>A c.(2530-2532)CGC>CAC p.R844H ITGAM_uc002ebr.2_Missense_Mutation_p.R845H|ITGAM_uc010can.2_Missense_Mutation_p.R250H|ITGAM_uc002ebs.1_Missense_Mutation_p.R250H NM_000632 NP_000623 P11215 ITAM_HUMAN integrin alpha M isoform 2 precursor 844 Extracellular (Potential). blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration integrin complex glycoprotein binding|receptor activity kidney(1) 1 CGATCCTGGCGCCTGGCCTGT 0.602 DPEP3 64180 broad.mit.edu 37 16 68010069 68010069 + Missense_Mutation SNP C T T TCGA-19-5959-01A-11D-1696-08 TCGA-19-5959-11A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx dd3e4733-7154-4162-9a61-a3a685e5f561 3a0f00b9-668f-4afb-8d07-998ed98c2181 g.chr16:68010069C>T uc002evc.3 - 9 1326 c.1232G>A c.(1231-1233)CGT>CAT p.R411H DPEP3_uc010cex.2_Missense_Mutation_p.R410H NM_022357 NP_071752 Q9H4B8 DPEP3_HUMAN dipeptidase 3 isoform a 386 meiosis anchored to membrane dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metalloexopeptidase activity breast(3) 3 Ovarian(137;0.192) OV - Ovarian serous cystadenocarcinoma(108;0.0117)|Epithelial(162;0.0481)|all cancers(182;0.236) GCTCCAGCTACGACTCAGCAA 0.577 CNTNAP4 85445 broad.mit.edu 37 16 76482757 76482757 + Missense_Mutation SNP G A A rs148969138 TCGA-19-5959-01A-11D-1696-08 TCGA-19-5959-11A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx dd3e4733-7154-4162-9a61-a3a685e5f561 3a0f00b9-668f-4afb-8d07-998ed98c2181 g.chr16:76482757G>A uc002feu.1 + 8 1221 c.836G>A c.(835-837)CGT>CAT p.R279H CNTNAP4_uc002fev.1_Missense_Mutation_p.R191H|CNTNAP4_uc010chb.1_Missense_Mutation_p.R254H|CNTNAP4_uc002fex.1_Missense_Mutation_p.R282H|CNTNAP4_uc002few.2_Missense_Mutation_p.R254H NM_033401 NP_207837 Q9C0A0 CNTP4_HUMAN cell recognition protein CASPR4 isoform 1 279 Extracellular (Potential).|Laminin G-like 1. cell adhesion|signal transduction integral to membrane receptor binding ovary(1)|pancreas(1) 2 CTCATCCAGCGTTTGGGCAAA 0.483 SDR42E1 93517 broad.mit.edu 37 16 82033639 82033639 + Missense_Mutation SNP G A A TCGA-19-5959-01A-11D-1696-08 TCGA-19-5959-11A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx dd3e4733-7154-4162-9a61-a3a685e5f561 3a0f00b9-668f-4afb-8d07-998ed98c2181 g.chr16:82033639G>A uc002fgu.2 - 3 387 c.259C>T c.(259-261)CGG>TGG p.R87W NM_145168 NP_660151 Q8WUS8 D42E1_HUMAN short chain dehydrogenase/reductase family 42E, 87 steroid biosynthetic process integral to membrane 3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding 0 AGTTGCTCCCGCCCTGACATA 0.498 CDH13 1012 broad.mit.edu 37 16 83704506 83704506 + Missense_Mutation SNP G A A TCGA-19-5959-01A-11D-1696-08 TCGA-19-5959-11A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx dd3e4733-7154-4162-9a61-a3a685e5f561 3a0f00b9-668f-4afb-8d07-998ed98c2181 g.chr16:83704506G>A uc002fgx.2 + 9 1333 c.1213G>A c.(1213-1215)GGA>AGA p.G405R CDH13_uc010vns.1_Missense_Mutation_p.G452R|CDH13_uc010vnt.1_Missense_Mutation_p.G151R|CDH13_uc010vnu.1_Missense_Mutation_p.G366R NM_001257 NP_001248 P55290 CAD13_HUMAN cadherin 13 preproprotein 405 Cadherin 3. adherens junction organization|calcium-dependent cell-cell adhesion|cell junction assembly|endothelial cell migration|homophilic cell adhesion|keratinocyte proliferation|lamellipodium assembly|localization within membrane|low-density lipoprotein particle mediated signaling|negative regulation of cell adhesion|negative regulation of cell proliferation|positive regulation of calcium-mediated signaling|positive regulation of cell migration|positive regulation of cell-matrix adhesion|positive regulation of endothelial cell proliferation|positive regulation of positive chemotaxis|positive regulation of smooth muscle cell proliferation|positive regulation of survival gene product expression|Rac protein signal transduction|regulation of endocytosis|regulation of epidermal growth factor receptor signaling pathway|Rho protein signal transduction|sprouting angiogenesis anchored to membrane|caveola|extracellular space|integral to membrane|neuron projection adiponectin binding|cadherin binding|calcium ion binding|low-density lipoprotein particle binding large_intestine(1) 1 all_cancers(2;1.34e-11)|all_epithelial(2;4.3e-09) COAD - Colon adenocarcinoma(5;0.0268) CATCATCAACGGAAACCCCGG 0.498 TNFAIP1 7126 broad.mit.edu 37 17 26666722 26666722 + Missense_Mutation SNP G A A TCGA-19-5959-01A-11D-1696-08 TCGA-19-5959-11A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx dd3e4733-7154-4162-9a61-a3a685e5f561 3a0f00b9-668f-4afb-8d07-998ed98c2181 g.chr17:26666722G>A uc002hax.1 + 2 194 c.175G>A c.(175-177)GGG>AGG p.G59R TNFAIP1_uc002hay.2_Missense_Mutation_p.G59R|TNFAIP1_uc010waf.1_Intron NM_021137 NP_066960 Q13829 BACD2_HUMAN tumor necrosis factor, alpha-induced protein 1 59 BTB. apoptosis|cell migration|DNA replication|embryo development|immune response|negative regulation of Rho protein signal transduction|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination|stress fiber assembly Cul3-RING ubiquitin ligase complex|endosome|nucleus|voltage-gated potassium channel complex GTP-Rho binding|voltage-gated potassium channel activity 0 all_lung(13;0.000294)|Lung NSC(42;0.000964) UCEC - Uterine corpus endometrioid carcinoma (53;0.153) CATGTTCAGTGGGCGCATGGA 0.617 KRT32 3882 broad.mit.edu 37 17 39619277 39619277 + Missense_Mutation SNP G A A TCGA-19-5959-01A-11D-1696-08 TCGA-19-5959-11A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx dd3e4733-7154-4162-9a61-a3a685e5f561 3a0f00b9-668f-4afb-8d07-998ed98c2181 g.chr17:39619277G>A uc002hwr.2 - 6 1083 c.1022C>T c.(1021-1023)ACG>ATG p.T341M NM_002278 NP_002269 Q14532 K1H2_HUMAN keratin 32 341 Coil 2.|Rod. epidermis development intermediate filament protein binding|structural molecule activity 0 Breast(137;0.000812) CTCACTCTCCGTCAGCGTGTT 0.572 DCC 1630 broad.mit.edu 37 18 50451729 50451729 + Missense_Mutation SNP T C C TCGA-19-5959-01A-11D-1696-08 TCGA-19-5959-11A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx dd3e4733-7154-4162-9a61-a3a685e5f561 3a0f00b9-668f-4afb-8d07-998ed98c2181 g.chr18:50451729T>C uc002lfe.1 + 5 1561 c.974T>C c.(973-975)CTC>CCC p.L325P DCC_uc010xdr.1_Missense_Mutation_p.L173P NM_005215 NP_005206 P43146 DCC_HUMAN netrin receptor DCC precursor 325 Extracellular (Potential).|Ig-like C2-type 3. apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development cytosol|integral to membrane skin(8)|ovary(6)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1) 17 all_cancers(7;0.11)|all_epithelial(6;0.00126) Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942) TCTGCAGAGCTCACAGTCTTG 0.388 ATCAY 85300 broad.mit.edu 37 19 3909561 3909561 + Missense_Mutation SNP G A A TCGA-19-5959-01A-11D-1696-08 TCGA-19-5959-11A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx dd3e4733-7154-4162-9a61-a3a685e5f561 3a0f00b9-668f-4afb-8d07-998ed98c2181 g.chr19:3909561G>A uc002lyy.3 + 7 1155 c.725G>A c.(724-726)CGG>CAG p.R242Q ATCAY_uc010xhz.1_Missense_Mutation_p.R248Q|ATCAY_uc010dts.2_5'UTR NM_033064 NP_149053 Q86WG3 ATCAY_HUMAN caytaxin 242 CRAL-TRIO. transport protein binding breast(1) 1 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00485)|STAD - Stomach adenocarcinoma(1328;0.183) ACGCCCCGGCGGAGGATGCCT 0.592 TNFSF9 8744 broad.mit.edu 37 19 6534936 6534936 + Silent SNP C T T TCGA-19-5959-01A-11D-1696-08 TCGA-19-5959-11A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx dd3e4733-7154-4162-9a61-a3a685e5f561 3a0f00b9-668f-4afb-8d07-998ed98c2181 g.chr19:6534936C>T uc002mfh.2 + 3 662 c.624C>T c.(622-624)GCC>GCT p.A208A NM_003811 NP_003802 P41273 TNFL9_HUMAN tumor necrosis factor (ligand) superfamily, 208 Extracellular (Potential). apoptosis|cell proliferation|cell-cell signaling|immune response|signal transduction extracellular space|integral to membrane cytokine activity|tumor necrosis factor receptor binding central_nervous_system(1) 1 ACCTGAGTGCCGGCCAGCGCC 0.697 DOCK6 57572 broad.mit.edu 37 19 11361720 11361720 + Nonsense_Mutation SNP G A A TCGA-19-5959-01A-11D-1696-08 TCGA-19-5959-11A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx dd3e4733-7154-4162-9a61-a3a685e5f561 3a0f00b9-668f-4afb-8d07-998ed98c2181 g.chr19:11361720G>A uc002mqs.3 - 6 591 c.550C>T c.(550-552)CGA>TGA p.R184* NM_020812 NP_065863 Q96HP0 DOCK6_HUMAN dedicator of cytokinesis 6 184 blood coagulation cytosol GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity ovary(2)|skin(1) 3 CCACTGCTTCGAGGGGTGTCT 0.567 OR10H5 284433 broad.mit.edu 37 19 15905063 15905063 + Missense_Mutation SNP A G G TCGA-19-5959-01A-11D-1696-08 TCGA-19-5959-11A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx dd3e4733-7154-4162-9a61-a3a685e5f561 3a0f00b9-668f-4afb-8d07-998ed98c2181 g.chr19:15905063A>G uc010xos.1 + 1 205 c.205A>G c.(205-207)ACC>GCC p.T69A NM_001004466 NP_001004466 Q8NGA6 O10H5_HUMAN olfactory receptor, family 10, subfamily H, 69 Helical; Name=2; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 CCTCTCCATCACCGAGATCCT 0.622 HIF3A 64344 broad.mit.edu 37 19 46832519 46832519 + Missense_Mutation SNP A G G TCGA-19-5959-01A-11D-1696-08 TCGA-19-5959-11A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx dd3e4733-7154-4162-9a61-a3a685e5f561 3a0f00b9-668f-4afb-8d07-998ed98c2181 g.chr19:46832519A>G uc002peh.2 + 12 1525 c.1496A>G c.(1495-1497)GAC>GGC p.D499G HIF3A_uc002peg.3_Missense_Mutation_p.D499G|HIF3A_uc002pei.3_Missense_Mutation_p.D443G|HIF3A_uc002pej.1_Intron|HIF3A_uc002pek.2_Missense_Mutation_p.D443G|HIF3A_uc010xxy.1_Missense_Mutation_p.D430G|HIF3A_uc002pel.2_Missense_Mutation_p.D497G|HIF3A_uc010xxz.1_Missense_Mutation_p.D448G NM_152795 NP_690008 Q9Y2N7 HIF3A_HUMAN hypoxia inducible factor 3, alpha subunit 499 NTAD.|ODD. regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|signal transducer activity upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1) 3 Ovarian(192;0.00965)|all_neural(266;0.0887) OV - Ovarian serous cystadenocarcinoma(262;0.00204)|all cancers(93;0.0107)|GBM - Glioblastoma multiforme(486;0.0489)|Epithelial(262;0.136) ATGGATGATGACTTCCAGCTC 0.552 FPR2 2358 broad.mit.edu 37 19 52272915 52272915 + Missense_Mutation SNP C T T TCGA-19-5959-01A-11D-1696-08 TCGA-19-5959-11A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx dd3e4733-7154-4162-9a61-a3a685e5f561 3a0f00b9-668f-4afb-8d07-998ed98c2181 g.chr19:52272915C>T uc002pxr.2 + 2 1049 c.1004C>T c.(1003-1005)ACG>ATG p.T335M FPR2_uc002pxs.3_Missense_Mutation_p.T335M|FPR2_uc010epf.2_Missense_Mutation_p.T335M NM_001005738 NP_001005738 P25090 FPR2_HUMAN formyl peptide receptor-like 1 335 Cytoplasmic (Potential). cell adhesion|cellular component movement|chemotaxis|inflammatory response integral to membrane|plasma membrane N-formyl peptide receptor activity lung(3)|ovary(1) 4 ACTAATGACACGGCTGCCAAT 0.537 ZNF71 58491 broad.mit.edu 37 19 57133247 57133247 + Missense_Mutation SNP C T T TCGA-19-5959-01A-11D-1696-08 TCGA-19-5959-11A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx dd3e4733-7154-4162-9a61-a3a685e5f561 3a0f00b9-668f-4afb-8d07-998ed98c2181 g.chr19:57133247C>T uc002qnm.3 + 3 830 c.592C>T c.(592-594)CGC>TGC p.R198C NM_021216 NP_067039 Q9NQZ8 ZNF71_HUMAN zinc finger protein 71 198 C2H2-type 3. nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding skin(1) 1 GBM - Glioblastoma multiforme(193;0.062)|Lung(386;0.0681)|LUSC - Lung squamous cell carcinoma(496;0.18) CTTCAGCCAGCGCATGAACCT 0.637 CCDC88A 55704 broad.mit.edu 37 2 55563820 55563821 + Frame_Shift_Del DEL TC - - TCGA-19-5959-01A-11D-1696-08 TCGA-19-5959-11A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx dd3e4733-7154-4162-9a61-a3a685e5f561 3a0f00b9-668f-4afb-8d07-998ed98c2181 g.chr2:55563820_55563821delTC uc002ryv.2 - 14 2494_2495 c.1652_1653delGA c.(1651-1653)AGAfs p.R551fs CCDC88A_uc010yoz.1_Frame_Shift_Del_p.R551fs|CCDC88A_uc010ypa.1_Frame_Shift_Del_p.R551fs|CCDC88A_uc010ypb.1_Frame_Shift_Del_p.R453fs|CCDC88A_uc002ryu.2_5'Flank|CCDC88A_uc002ryw.2_5'Flank NM_001135597 NP_001129069 Q3V6T2 GRDN_HUMAN coiled-coil domain containing 88A isoform 1 551 Potential. activation of protein kinase B activity|cell migration|cellular membrane organization|DNA replication|lamellipodium assembly|microtubule cytoskeleton organization|regulation of actin cytoskeleton organization|regulation of cell proliferation|regulation of DNA replication|regulation of neuron projection development|TOR signaling cascade cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|Golgi apparatus|lamellipodium|plasma membrane actin binding|microtubule binding|phosphatidylinositol binding|protein homodimerization activity|protein kinase B binding ovary(2)|skin(2) 4 TATGAACCTGTCTCTCTGAATT 0.262 SMYD5 10322 broad.mit.edu 37 2 73453009 73453011 + In_Frame_Del DEL GAG - - TCGA-19-5959-01A-11D-1696-08 TCGA-19-5959-11A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx dd3e4733-7154-4162-9a61-a3a685e5f561 3a0f00b9-668f-4afb-8d07-998ed98c2181 g.chr2:73453009_73453011delGAG uc002siw.2 + 13 1221_1223 c.1192_1194delGAG c.(1192-1194)GAGdel p.E403del SMYD5_uc010yre.1_In_Frame_Del_p.E287del|SMYD5_uc002six.1_RNA NM_006062 NP_006053 Q6GMV2 SMYD5_HUMAN SMYD family member 5 403 Glu-rich. metal ion binding 0 ggaagaggaagaggaggaggagg 0.468 IL18RAP 8807 broad.mit.edu 37 2 103040451 103040451 + Missense_Mutation SNP G T T TCGA-19-5959-01A-11D-1696-08 TCGA-19-5959-11A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx dd3e4733-7154-4162-9a61-a3a685e5f561 3a0f00b9-668f-4afb-8d07-998ed98c2181 g.chr2:103040451G>T uc002tbx.2 + 4 735 c.251G>T c.(250-252)TGG>TTG p.W84L IL18RAP_uc010fiz.2_Intron NM_003853 NP_003844 O95256 I18RA_HUMAN interleukin 18 receptor accessory protein 84 Extracellular (Potential). cell surface receptor linked signaling pathway|inflammatory response|innate immune response integral to membrane transmembrane receptor activity skin(3)|ovary(2) 5 GATGTCCAATGGTACCAACAA 0.458 LRP2 4036 broad.mit.edu 37 2 170112639 170112639 + Missense_Mutation SNP G A A TCGA-19-5959-01A-11D-1696-08 TCGA-19-5959-11A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx dd3e4733-7154-4162-9a61-a3a685e5f561 3a0f00b9-668f-4afb-8d07-998ed98c2181 g.chr2:170112639G>A uc002ues.2 - 19 2960 c.2747C>T c.(2746-2748)CCG>CTG p.P916L LRP2_uc010zdf.1_Missense_Mutation_p.P779L NM_004525 NP_004516 P98164 LRP2_HUMAN low density lipoprotein-related protein 2 916 LDL-receptor class B 9.|Extracellular (Potential). hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process coated pit|integral to membrane|lysosome calcium ion binding|receptor activity|SH3 domain binding ovary(13)|skin(6)|central_nervous_system(4)|large_intestine(3)|kidney(2)|pancreas(1) 29 STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101) Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013) AAGTCCAAACGGATGTGTCAT 0.378 TTN 7273 broad.mit.edu 37 2 179442111 179442111 + Missense_Mutation SNP G A A TCGA-19-5959-01A-11D-1696-08 TCGA-19-5959-11A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx dd3e4733-7154-4162-9a61-a3a685e5f561 3a0f00b9-668f-4afb-8d07-998ed98c2181 g.chr2:179442111G>A uc010zfg.1 - 273 61471 c.61247C>T c.(61246-61248)GCA>GTA p.A20416V uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.A14111V|TTN_uc010zfi.1_Missense_Mutation_p.A14044V|TTN_uc010zfj.1_Missense_Mutation_p.A13919V|uc002umv.1_5'Flank NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 21343 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1) 153 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) GTCTTTTCCTGCCTTGGACCA 0.403 MFF 56947 broad.mit.edu 37 2 228195421 228195421 + Missense_Mutation SNP A T T TCGA-19-5959-01A-11D-1696-08 TCGA-19-5959-11A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx dd3e4733-7154-4162-9a61-a3a685e5f561 3a0f00b9-668f-4afb-8d07-998ed98c2181 g.chr2:228195421A>T uc002vos.2 + 4 536 c.118A>T c.(118-120)ACT>TCT p.T40S MFF_uc002vot.2_Missense_Mutation_p.T14S|MFF_uc002vou.2_Missense_Mutation_p.T40S|MFF_uc002vov.2_Missense_Mutation_p.T14S|MFF_uc002vow.2_Missense_Mutation_p.T14S|MFF_uc002vox.2_Missense_Mutation_p.T14S|MFF_uc002voy.2_Missense_Mutation_p.T40S|MFF_uc002voz.2_Missense_Mutation_p.T14S NM_020194 NP_064579 Q9GZY8 MFF_HUMAN mitochondrial fission factor 40 Cytoplasmic (Potential). integral to membrane|mitochondrial outer membrane large_intestine(1) 1 AATGGAATATACTGAAGGCAT 0.458 UGT1A10 54575 broad.mit.edu 37 2 234545533 234545533 + Missense_Mutation SNP C T T rs145610800 TCGA-19-5959-01A-11D-1696-08 TCGA-19-5959-11A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx dd3e4733-7154-4162-9a61-a3a685e5f561 3a0f00b9-668f-4afb-8d07-998ed98c2181 g.chr2:234545533C>T uc002vur.2 + 1 411 c.365C>T c.(364-366)TCG>TTG p.S122L UGT1A8_uc010zmv.1_Intron|UGT1A8_uc002vup.2_Intron|UGT1A10_uc002vuq.3_Missense_Mutation_p.S122L NM_019075 NP_061948 Q9HAW8 UD110_HUMAN UDP glycosyltransferase 1 family, polypeptide 122 flavone metabolic process endoplasmic reticulum membrane|integral to membrane|microsome glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity|protein kinase C binding ovary(2)|skin(1) 3 Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0334)|Lung NSC(271;0.0461)|Lung SC(224;0.128) Epithelial(121;1.96e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000468)|Lung(119;0.00381)|LUSC - Lung squamous cell carcinoma(224;0.008) TTATTTTTTTCGCATTGCAGG 0.363 NEU4 129807 broad.mit.edu 37 2 242755707 242755707 + Missense_Mutation SNP G A A rs138212045 TCGA-19-5959-01A-11D-1696-08 TCGA-19-5959-11A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx dd3e4733-7154-4162-9a61-a3a685e5f561 3a0f00b9-668f-4afb-8d07-998ed98c2181 g.chr2:242755707G>A uc010fzr.2 + 2 112 c.26G>A c.(25-27)CGG>CAG p.R9Q NEU4_uc002wcl.2_RNA|NEU4_uc002wcm.2_Missense_Mutation_p.R9Q|NEU4_uc002wcn.1_Missense_Mutation_p.R21Q|NEU4_uc002wco.1_Missense_Mutation_p.R9Q|NEU4_uc002wcp.1_Missense_Mutation_p.R21Q NM_080741 NP_542779 Q8WWR8 NEUR4_HUMAN sialidase 4 9 lysosomal lumen|organelle inner membrane exo-alpha-sialidase activity|protein binding 0 all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244) Epithelial(32;3.84e-33)|all cancers(36;8.08e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.41e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0825) ACCCCTTCACGGACAGTGCTC 0.692 CHGB 1114 broad.mit.edu 37 20 5903871 5903871 + Missense_Mutation SNP C T T rs144051265 TCGA-19-5959-01A-11D-1696-08 TCGA-19-5959-11A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx dd3e4733-7154-4162-9a61-a3a685e5f561 3a0f00b9-668f-4afb-8d07-998ed98c2181 g.chr20:5903871C>T uc002wmg.2 + 4 1387 c.1081C>T c.(1081-1083)CGC>TGC p.R361C CHGB_uc010zqz.1_Missense_Mutation_p.R44C NM_001819 NP_001810 P05060 SCG1_HUMAN chromogranin B precursor 361 extracellular region hormone activity breast(3)|skin(2)|ovary(1) 6 GGAGTGGGAGCGCTATAGGGG 0.527 SNTA1 6640 broad.mit.edu 37 20 32000203 32000203 + Silent SNP C T T TCGA-19-5959-01A-11D-1696-08 TCGA-19-5959-11A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx dd3e4733-7154-4162-9a61-a3a685e5f561 3a0f00b9-668f-4afb-8d07-998ed98c2181 g.chr20:32000203C>T uc002wzd.1 - 5 1211 c.939G>A c.(937-939)CTG>CTA p.L313L SNTA1_uc010zuf.1_Intron NM_003098 NP_003089 Q13424 SNTA1_HUMAN acidic alpha 1 syntrophin 313 PH 2. muscle contraction cell junction|cytoplasm|cytoskeleton|sarcolemma actin binding|calmodulin binding skin(1) 1 TTAGCAGGGCCAGGGTGGGGG 0.652 SRMS 6725 broad.mit.edu 37 20 62178625 62178625 + Silent SNP C T T rs140773907 TCGA-19-5959-01A-11D-1696-08 TCGA-19-5959-11A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx dd3e4733-7154-4162-9a61-a3a685e5f561 3a0f00b9-668f-4afb-8d07-998ed98c2181 g.chr20:62178625C>T uc002yfi.1 - 1 233 c.192G>A c.(190-192)GCG>GCA p.A64A NM_080823 NP_543013 Q9H3Y6 SRMS_HUMAN src-related kinase lacking C-terminal regulatory 64 SH3. ATP binding|non-membrane spanning protein tyrosine kinase activity stomach(1)|lung(1) 2 all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13) Epithelial(9;9.69e-09)|all cancers(9;5.84e-08)|BRCA - Breast invasive adenocarcinoma(10;3.63e-06) CGCCACACCGCGCCGTGAAGT 0.692 PCNT 5116 broad.mit.edu 37 21 47850134 47850134 + Missense_Mutation SNP T C C TCGA-19-5959-01A-11D-1696-08 TCGA-19-5959-11A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx dd3e4733-7154-4162-9a61-a3a685e5f561 3a0f00b9-668f-4afb-8d07-998ed98c2181 g.chr21:47850134T>C uc002zji.3 + 36 8008 c.7901T>C c.(7900-7902)GTC>GCC p.V2634A PCNT_uc002zjj.2_Missense_Mutation_p.V2516A NM_006031 NP_006022 O95613 PCNT_HUMAN pericentrin 2634 Potential. cilium assembly|G2/M transition of mitotic cell cycle cytosol|microtubule calmodulin binding ovary(4)|breast(2)|pancreas(2) 8 Breast(49;0.112) CAGCAGGAGGTCCTCCAGCTG 0.607 FBLN2 2199 broad.mit.edu 37 3 13670420 13670420 + Missense_Mutation SNP C T T TCGA-19-5959-01A-11D-1696-08 TCGA-19-5959-11A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx dd3e4733-7154-4162-9a61-a3a685e5f561 3a0f00b9-668f-4afb-8d07-998ed98c2181 g.chr3:13670420C>T uc011avb.1 + 11 2569 c.2444C>T c.(2443-2445)ACG>ATG p.T815M FBLN2_uc011auz.1_Missense_Mutation_p.T841M|FBLN2_uc011ava.1_Missense_Mutation_p.T862M|FBLN2_uc011avc.1_Missense_Mutation_p.T862M NM_001998 NP_001989 P98095 FBLN2_HUMAN fibulin 2 isoform b precursor 815 EGF-like 5; calcium-binding. proteinaceous extracellular matrix calcium ion binding|extracellular matrix structural constituent ovary(1) 1 UCEC - Uterine corpus endometrioid carcinoma (1;0.00416) AACGAGTGCACGTCACTGTCC 0.662 FBLN2 2199 broad.mit.edu 37 3 13670486 13670486 + Missense_Mutation SNP A G G TCGA-19-5959-01A-11D-1696-08 TCGA-19-5959-11A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx dd3e4733-7154-4162-9a61-a3a685e5f561 3a0f00b9-668f-4afb-8d07-998ed98c2181 g.chr3:13670486A>G uc011avb.1 + 11 2635 c.2510A>G c.(2509-2511)CAG>CGG p.Q837R FBLN2_uc011auz.1_Missense_Mutation_p.Q863R|FBLN2_uc011ava.1_Missense_Mutation_p.Q884R|FBLN2_uc011avc.1_Missense_Mutation_p.Q884R NM_001998 NP_001989 P98095 FBLN2_HUMAN fibulin 2 isoform b precursor 837 EGF-like 5; calcium-binding. proteinaceous extracellular matrix calcium ion binding|extracellular matrix structural constituent ovary(1) 1 UCEC - Uterine corpus endometrioid carcinoma (1;0.00416) TACACATGCCAGAGGAACCCG 0.652 KCNH8 131096 broad.mit.edu 37 3 19575088 19575088 + Missense_Mutation SNP G A A TCGA-19-5959-01A-11D-1696-08 TCGA-19-5959-11A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx dd3e4733-7154-4162-9a61-a3a685e5f561 3a0f00b9-668f-4afb-8d07-998ed98c2181 g.chr3:19575088G>A uc003cbk.1 + 16 3016 c.2821G>A c.(2821-2823)GGG>AGG p.G941R KCNH8_uc010hex.1_Missense_Mutation_p.G402R NM_144633 NP_653234 Q96L42 KCNH8_HUMAN potassium voltage-gated channel, subfamily H, 941 Cytoplasmic (Potential). integral to membrane two-component sensor activity lung(4)|ovary(1) 5 GCAAACAGGCGGGGCTGCTTA 0.547 RTP3 83597 broad.mit.edu 37 3 46542293 46542293 + Silent SNP C T T TCGA-19-5959-01A-11D-1696-08 TCGA-19-5959-11A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx dd3e4733-7154-4162-9a61-a3a685e5f561 3a0f00b9-668f-4afb-8d07-998ed98c2181 g.chr3:46542293C>T uc003cps.1 + 2 671 c.603C>T c.(601-603)TAC>TAT p.Y201Y NM_031440 NP_113628 Q9BQQ7 RTP3_HUMAN transmembrane protein 7 201 Cytoplasmic (Potential). detection of chemical stimulus involved in sensory perception of bitter taste|protein targeting to membrane cytoplasm|integral to membrane protein binding ovary(2) 2 BRCA - Breast invasive adenocarcinoma(193;0.00114)|KIRC - Kidney renal clear cell carcinoma(197;0.0173)|Kidney(197;0.0204) TCTATTCCTACGCATGCCAAA 0.433 DNAH1 25981 broad.mit.edu 37 3 52433096 52433096 + Missense_Mutation SNP G C C TCGA-19-5959-01A-11D-1696-08 TCGA-19-5959-11A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx dd3e4733-7154-4162-9a61-a3a685e5f561 3a0f00b9-668f-4afb-8d07-998ed98c2181 g.chr3:52433096G>C uc011bef.1 + 76 12581 c.12320G>C c.(12319-12321)GGC>GCC p.G4107A DNAH1_uc003ddv.2_Missense_Mutation_p.G965A NM_015512 NP_056327 Q9P2D7 DYH1_HUMAN dynein, axonemal, heavy chain 1 4172 ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity large_intestine(3) 3 BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245) ATCCAAGATGGCATCCCAGCT 0.532 NT5DC2 64943 broad.mit.edu 37 3 52563292 52563292 + Silent SNP G A A rs148646310 TCGA-19-5959-01A-11D-1696-08 TCGA-19-5959-11A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx dd3e4733-7154-4162-9a61-a3a685e5f561 3a0f00b9-668f-4afb-8d07-998ed98c2181 g.chr3:52563292G>A uc003deo.2 - 2 604 c.180C>T c.(178-180)AAC>AAT p.N60N NT5DC2_uc003dem.2_5'Flank|NT5DC2_uc003den.2_Silent_p.N97N|NT5DC2_uc010hmi.2_Silent_p.N97N|NT5DC2_uc010hmj.2_Translation_Start_Site NM_022908 NP_075059 Q9H857 NT5D2_HUMAN 5'-nucleotidase domain containing 2 isoform 2 60 hydrolase activity|metal ion binding 0 BRCA - Breast invasive adenocarcinoma(193;1.7e-05)|Kidney(197;0.00177)|KIRC - Kidney renal clear cell carcinoma(197;0.002)|OV - Ovarian serous cystadenocarcinoma(275;0.0476) GGCTGATCTCGTTGTTGGCGT 0.592 KIAA1524 57650 broad.mit.edu 37 3 108276241 108276241 + Missense_Mutation SNP C A A TCGA-19-5959-01A-11D-1696-08 TCGA-19-5959-11A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx dd3e4733-7154-4162-9a61-a3a685e5f561 3a0f00b9-668f-4afb-8d07-998ed98c2181 g.chr3:108276241C>A uc003dxb.3 - 17 2303 c.2034G>T c.(2032-2034)ATG>ATT p.M678I NM_020890 NP_065941 Q8TCG1 CIP2A_HUMAN p90 autoantigen 678 Potential. cytoplasm|integral to membrane protein binding ovary(2)|central_nervous_system(1) 3 CTTCTCTCAACATACTAGCAA 0.368 PLSCR2 57047 broad.mit.edu 37 3 146177634 146177634 + Splice_Site SNP C T T TCGA-19-5959-01A-11D-1696-08 TCGA-19-5959-11A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx dd3e4733-7154-4162-9a61-a3a685e5f561 3a0f00b9-668f-4afb-8d07-998ed98c2181 g.chr3:146177634C>T uc003evv.1 - 3 390 c.57_splice c.e3+1 p.Q19_splice PLSCR2_uc003evw.1_Splice_Site_p.Q88_splice NM_020359 NP_065092 Q9NRY7 PLS2_HUMAN phospholipid scramblase 2 phospholipid scrambling integral to membrane|plasma membrane calcium ion binding|phospholipid scramblase activity 0 TTTGAAATTACCTGACTTAAG 0.373 NFXL1 152518 broad.mit.edu 37 4 47864932 47864932 + Silent SNP T C C TCGA-19-5959-01A-11D-1696-08 TCGA-19-5959-11A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx dd3e4733-7154-4162-9a61-a3a685e5f561 3a0f00b9-668f-4afb-8d07-998ed98c2181 g.chr4:47864932T>C uc010igh.2 - 19 2424 c.2247A>G c.(2245-2247)AGA>AGG p.R749R NFXL1_uc003gxo.2_Silent_p.R74R|NFXL1_uc003gxp.2_Silent_p.R749R|NFXL1_uc003gxq.3_RNA|NFXL1_uc010igi.2_Silent_p.R749R NM_152995 NP_694540 Q6ZNB6 NFXL1_HUMAN nuclear transcription factor, X-box binding-like 749 integral to membrane|nucleus sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1)|lung(1)|skin(1) 3 TGGTTATTTTTCTAAAAATAA 0.269 TXK 7294 broad.mit.edu 37 4 48069656 48069656 + Nonstop_Mutation SNP A T T TCGA-19-5959-01A-11D-1696-08 TCGA-19-5959-11A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx dd3e4733-7154-4162-9a61-a3a685e5f561 3a0f00b9-668f-4afb-8d07-998ed98c2181 g.chr4:48069656A>T uc003gxx.3 - 15 1668 c.1582T>A c.(1582-1584)TGA>AGA p.*528R TXK_uc010igj.2_RNA|TXK_uc011bzj.1_Nonstop_Mutation_p.*215R NM_003328 NP_003319 P42681 TXK_HUMAN TXK tyrosine kinase 528 cytoplasm ATP binding|non-membrane spanning protein tyrosine kinase activity 0 GTTTCCGGTCACCAGGTTTCC 0.483 TMPRSS11F 389208 broad.mit.edu 37 4 68934340 68934340 + Missense_Mutation SNP A G G TCGA-19-5959-01A-11D-1696-08 TCGA-19-5959-11A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx dd3e4733-7154-4162-9a61-a3a685e5f561 3a0f00b9-668f-4afb-8d07-998ed98c2181 g.chr4:68934340A>G uc003hdt.1 - 7 800 c.751T>C c.(751-753)TGG>CGG p.W251R LOC550112_uc003hdl.3_Intron|uc011cak.1_Intron NM_207407 NP_997290 Q6ZWK6 TM11F_HUMAN transmembrane protease, serine 11F 251 Peptidase S1.|Extracellular (Potential). proteolysis extracellular region|integral to plasma membrane serine-type endopeptidase activity ovary(1) 1 ACTTACTTCCAAAAGCAGTGA 0.522 SCARB2 950 broad.mit.edu 37 4 77102252 77102255 + Splice_Site DEL TCCC - - rs145870223 TCGA-19-5959-01A-11D-1696-08 TCGA-19-5959-11A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx dd3e4733-7154-4162-9a61-a3a685e5f561 3a0f00b9-668f-4afb-8d07-998ed98c2181 g.chr4:77102252_77102255delTCCC uc003hju.1 - 3 615 c.276_splice c.e3-1 p.R92_splice SCARB2_uc011cbu.1_Intron NM_005506 NP_005497 Q14108 SCRB2_HUMAN scavenger receptor class B, member 2 cell adhesion|protein targeting to lysosome integral to plasma membrane|lysosomal lumen|lysosomal membrane|membrane fraction enzyme binding|receptor activity 0 Lung(101;0.196) GTTTCTGAGTTCCCTAAAAGAAAG 0.319 CDH18 1016 broad.mit.edu 37 5 19503219 19503219 + Splice_Site SNP C G G TCGA-19-5959-01A-11D-1696-08 TCGA-19-5959-11A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx dd3e4733-7154-4162-9a61-a3a685e5f561 3a0f00b9-668f-4afb-8d07-998ed98c2181 g.chr5:19503219C>G uc003jgc.2 - 10 1890 c.1513_splice c.e10-1 p.V505_splice CDH18_uc003jgd.2_Splice_Site_p.V505_splice|CDH18_uc011cnm.1_Splice_Site_p.V505_splice NM_004934 NP_004925 Q13634 CAD18_HUMAN cadherin 18, type 2 preproprotein adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(5)|large_intestine(1)|skin(1) 7 Lung NSC(1;0.00734)|all_lung(1;0.0197) TATGAATAACCTAAAGAAAAG 0.303 CDH9 1007 broad.mit.edu 37 5 26881626 26881626 + Silent SNP G A A TCGA-19-5959-01A-11D-1696-08 TCGA-19-5959-11A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx dd3e4733-7154-4162-9a61-a3a685e5f561 3a0f00b9-668f-4afb-8d07-998ed98c2181 g.chr5:26881626G>A uc003jgs.1 - 12 2158 c.1989C>T c.(1987-1989)GGC>GGT p.G663G CDH9_uc011cnv.1_Silent_p.G256G NM_016279 NP_057363 Q9ULB4 CADH9_HUMAN cadherin 9, type 2 preproprotein 663 Cytoplasmic (Potential). adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(5)|skin(2)|upper_aerodigestive_tract(1)|haematopoietic_and_lymphoid_tissue(1) 9 CTTCCCCGCCGCCTTCATCGT 0.438 UGT3A2 167127 broad.mit.edu 37 5 36035988 36035988 + Missense_Mutation SNP C T T TCGA-19-5959-01A-11D-1696-08 TCGA-19-5959-11A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx dd3e4733-7154-4162-9a61-a3a685e5f561 3a0f00b9-668f-4afb-8d07-998ed98c2181 g.chr5:36035988C>T uc003jjz.1 - 7 1477 c.1384G>A c.(1384-1386)GTC>ATC p.V462I UGT3A2_uc011cos.1_Missense_Mutation_p.V428I|UGT3A2_uc011cot.1_Missense_Mutation_p.V160I NM_174914 NP_777574 Q3SY77 UD3A2_HUMAN UDP glycosyltransferase 3 family, polypeptide A2 462 Extracellular (Potential). integral to membrane glucuronosyltransferase activity ovary(2)|skin(2)|large_intestine(1)|pancreas(1) 6 all_lung(31;0.000179) Lung(74;0.111)|Epithelial(62;0.113)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) GTCTGGAGGACGTGGTCAATC 0.617 PCDHA7 56141 broad.mit.edu 37 5 140215418 140215418 + Missense_Mutation SNP G A A TCGA-19-5959-01A-11D-1696-08 TCGA-19-5959-11A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx dd3e4733-7154-4162-9a61-a3a685e5f561 3a0f00b9-668f-4afb-8d07-998ed98c2181 g.chr5:140215418G>A uc003lhq.2 + 1 1450 c.1450G>A c.(1450-1452)GCG>ACG p.A484T PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc011dac.1_Missense_Mutation_p.A484T NM_018910 NP_061733 Q9UN72 PCDA7_HUMAN protocadherin alpha 7 isoform 1 precursor 484 Cadherin 5.|Extracellular (Potential). homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding|protein binding ovary(2)|skin(2) 4 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GGACGCGGACGCGCAGAAGAA 0.677 DRD1 1812 broad.mit.edu 37 5 174869392 174869392 + Silent SNP G A A TCGA-19-5959-01A-11D-1696-08 TCGA-19-5959-11A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx dd3e4733-7154-4162-9a61-a3a685e5f561 3a0f00b9-668f-4afb-8d07-998ed98c2181 g.chr5:174869392G>A uc003mcz.2 - 2 1656 c.711C>T c.(709-711)CAC>CAT p.H237H NM_000794 NP_000785 P21728 DRD1_HUMAN dopamine receptor D1 237 Cytoplasmic (Potential). activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|adult walking behavior|cerebral cortex GABAergic interneuron migration|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|mating behavior|positive regulation of cAMP biosynthetic process|positive regulation of cell migration|positive regulation of potassium ion transport|positive regulation of release of sequestered calcium ion into cytosol|positive regulation of synaptic transmission, glutamatergic|prepulse inhibition|response to drug|synapse assembly|visual learning endoplasmic reticulum membrane|membrane fraction protein binding ovary(2)|skin(1) 3 all_cancers(89;0.00895)|Renal(175;0.000159)|Lung NSC(126;0.00625)|all_lung(126;0.0104) Medulloblastoma(196;0.0208)|all_neural(177;0.0277)|all_hematologic(541;0.214) Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183) Acetophenazine(DB01063)|Amantadine(DB00915)|Apomorphine(DB00714)|Carphenazine(DB01038)|Chlorprothixene(DB01239)|Clozapine(DB00363)|Cocaine(DB00907)|Dopamine(DB00988)|Fenoldopam(DB00800)|Flupenthixol(DB00875)|Fluphenazine(DB00623)|Haloperidol(DB00502)|Levodopa(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Methylergonovine(DB00353)|Minaprine(DB00805)|Olanzapine(DB00334)|Pegademase bovine(DB00061)|Pergolide(DB01186)|Perphenazine(DB00850)|Prochlorperazine(DB00433)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Triflupromazine(DB00508)|Zuclopenthixol(DB01624) AATTCTTGGCGTGGACTGCTG 0.483 EEF1A1 1915 broad.mit.edu 37 6 74229088 74229088 + Missense_Mutation SNP A G G TCGA-19-5959-01A-11D-1696-08 TCGA-19-5959-11A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx dd3e4733-7154-4162-9a61-a3a685e5f561 3a0f00b9-668f-4afb-8d07-998ed98c2181 g.chr6:74229088A>G uc003phi.2 - 2 333 c.296T>C c.(295-297)ATC>ACC p.I99T EEF1A1_uc003phd.2_5'Flank|EEF1A1_uc003phe.2_Missense_Mutation_p.I99T|EEF1A1_uc003phf.2_Missense_Mutation_p.I99T|EEF1A1_uc003phg.2_Missense_Mutation_p.I99T|EEF1A1_uc003phh.2_Intron|EEF1A1_uc003phj.2_Missense_Mutation_p.I99T|EEF1A1_uc003phk.2_Missense_Mutation_p.I99T|EEF1A1_uc003phl.2_Intron|EEF1A1_uc003phm.1_Intron NM_001402 NP_001393 P68104 EF1A1_HUMAN eukaryotic translation elongation factor 1 alpha 99 cytosol|eukaryotic translation elongation factor 1 complex GTP binding|GTPase activity|protein binding|translation elongation factor activity 0 CATGTTTTTGATAAAGTCTCT 0.408 OREG0003890 type=REGULATORY REGION|Gene=LOC477388|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay BACH2 60468 broad.mit.edu 37 6 90660866 90660866 + Missense_Mutation SNP G A A TCGA-19-5959-01A-11D-1696-08 TCGA-19-5959-11A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx dd3e4733-7154-4162-9a61-a3a685e5f561 3a0f00b9-668f-4afb-8d07-998ed98c2181 g.chr6:90660866G>A uc011eab.1 - 7 1768 c.959C>T c.(958-960)CCC>CTC p.P320L BACH2_uc003pnw.2_Missense_Mutation_p.P320L|BACH2_uc010kch.2_Missense_Mutation_p.P320L NM_021813 NP_068585 Q9BYV9 BACH2_HUMAN BTB and CNC homology 1, basic leucine zipper 320 nucleus protein dimerization activity|sequence-specific DNA binding ovary(3)|pancreas(1)|lung(1)|skin(1) 6 all_cancers(76;7.37e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.0063) BRCA - Breast invasive adenocarcinoma(108;0.0799) TGGGGCCGTGGGGGTAGGGGC 0.637 FAM184A 79632 broad.mit.edu 37 6 119301415 119301415 + Missense_Mutation SNP G A A TCGA-19-5959-01A-11D-1696-08 TCGA-19-5959-11A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx dd3e4733-7154-4162-9a61-a3a685e5f561 3a0f00b9-668f-4afb-8d07-998ed98c2181 g.chr6:119301415G>A uc003pyj.2 - 10 2537 c.2189C>T c.(2188-2190)ACG>ATG p.T730M FAM184A_uc003pyk.3_Missense_Mutation_p.T610M|FAM184A_uc003pyl.3_Missense_Mutation_p.T610M NM_024581 NP_078857 Q8NB25 F184A_HUMAN hypothetical protein LOC79632 isoform 1 730 Potential. ovary(2)|central_nervous_system(2)|skin(2)|pancreas(1) 7 AAGCTCTTGCGTAAGCCGCTG 0.423 TTYH3 80727 broad.mit.edu 37 7 2687687 2687687 + Missense_Mutation SNP G T T TCGA-19-5959-01A-11D-1696-08 TCGA-19-5959-11A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx dd3e4733-7154-4162-9a61-a3a685e5f561 3a0f00b9-668f-4afb-8d07-998ed98c2181 g.chr7:2687687G>T uc003smp.2 + 5 908 c.721G>T c.(721-723)GGG>TGG p.G241W TTYH3_uc010ksn.2_Intron|TTYH3_uc003smq.2_Missense_Mutation_p.G70W NM_025250 NP_079526 Q9C0H2 TTYH3_HUMAN tweety 3 241 Helical; Name=4; (Potential). chloride channel complex|plasma membrane chloride channel activity 0 Ovarian(82;0.0112) OV - Ovarian serous cystadenocarcinoma(56;2.04e-14) CATCCTGGTGGGGTGAGTCTG 0.662 AHR 196 broad.mit.edu 37 7 17379818 17379818 + Missense_Mutation SNP C T T TCGA-19-5959-01A-11D-1696-08 TCGA-19-5959-11A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx dd3e4733-7154-4162-9a61-a3a685e5f561 3a0f00b9-668f-4afb-8d07-998ed98c2181 g.chr7:17379818C>T uc011jxz.1 + 10 2982 c.2369C>T c.(2368-2370)CCA>CTA p.P790L AHR_uc003stt.3_RNA NM_001621 NP_001612 P35869 AHR_HUMAN aryl hydrocarbon receptor precursor 790 apoptosis|blood vessel development|cell cycle|regulation of B cell proliferation|response to stress|transcription from RNA polymerase II promoter|xenobiotic metabolic process cytosolic aryl hydrocarbon receptor complex|transcription factor complex Hsp90 protein binding|ligand-dependent nuclear receptor activity|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding urinary_tract(1)|kidney(1)|pancreas(1) 3 Lung NSC(10;0.0392)|all_lung(11;0.0754) CAGTACAATCCAGTACTGCCA 0.443 MGC26647 219557 broad.mit.edu 37 7 88423665 88423665 + Missense_Mutation SNP C T T TCGA-19-5959-01A-11D-1696-08 TCGA-19-5959-11A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx dd3e4733-7154-4162-9a61-a3a685e5f561 3a0f00b9-668f-4afb-8d07-998ed98c2181 g.chr7:88423665C>T uc003ujv.2 - 2 774 c.592G>A c.(592-594)GAT>AAT p.D198N ZNF804B_uc011khi.1_Intron NM_152706 NP_689919 Q8TBZ9 CG062_HUMAN hypothetical protein LOC219557 198 0 Esophageal squamous(14;0.00802)|all_hematologic(106;0.109)|Lung NSC(181;0.168)|all_lung(186;0.169) STAD - Stomach adenocarcinoma(171;0.229) TGTAAGTTATCGCCTGGTCCT 0.423 RELN 5649 broad.mit.edu 37 7 103205876 103205876 + Missense_Mutation SNP A G G TCGA-19-5959-01A-11D-1696-08 TCGA-19-5959-11A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx dd3e4733-7154-4162-9a61-a3a685e5f561 3a0f00b9-668f-4afb-8d07-998ed98c2181 g.chr7:103205876A>G uc003vca.2 - 34 5219 c.5059T>C c.(5059-5061)TCT>CCT p.S1687P RELN_uc010liz.2_Missense_Mutation_p.S1687P NM_005045 NP_005036 P78509 RELN_HUMAN reelin isoform a 1687 BNR 7. axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity ovary(8)|upper_aerodigestive_tract(5)|large_intestine(2)|central_nervous_system(2)|skin(1)|pancreas(1) 19 COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184) TTGTTCAGAGAATACTGGAGC 0.473 RELN 5649 broad.mit.edu 37 7 103338351 103338351 + Silent SNP G A A rs142192165 TCGA-19-5959-01A-11D-1696-08 TCGA-19-5959-11A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx dd3e4733-7154-4162-9a61-a3a685e5f561 3a0f00b9-668f-4afb-8d07-998ed98c2181 g.chr7:103338351G>A uc003vca.2 - 10 1252 c.1092C>T c.(1090-1092)CTC>CTT p.L364L RELN_uc010liz.2_Silent_p.L364L NM_005045 NP_005036 P78509 RELN_HUMAN reelin isoform a 364 axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity ovary(8)|upper_aerodigestive_tract(5)|large_intestine(2)|central_nervous_system(2)|skin(1)|pancreas(1) 19 COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184) CCACTGGGTCGAGACTATCTT 0.418 CNTNAP2 26047 broad.mit.edu 37 7 146825899 146825899 + Missense_Mutation SNP A G G TCGA-19-5959-01A-11D-1696-08 TCGA-19-5959-11A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx dd3e4733-7154-4162-9a61-a3a685e5f561 3a0f00b9-668f-4afb-8d07-998ed98c2181 g.chr7:146825899A>G uc003weu.1 + 7 1570 c.1054A>G c.(1054-1056)AGA>GGA p.R352G NM_014141 NP_054860 Q9UHC6 CNTP2_HUMAN cell recognition molecule Caspr2 precursor 352 Laminin G-like 1.|Extracellular (Potential). behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex receptor binding ovary(9)|central_nervous_system(1)|pancreas(1) 11 Melanoma(164;0.153) all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794) OV - Ovarian serous cystadenocarcinoma(82;0.0319) TGATCTTGCCAGAAGGAAGAA 0.388 HNSCC(39;0.1) REPIN1 29803 broad.mit.edu 37 7 150069842 150069842 + Silent SNP G A A TCGA-19-5959-01A-11D-1696-08 TCGA-19-5959-11A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx dd3e4733-7154-4162-9a61-a3a685e5f561 3a0f00b9-668f-4afb-8d07-998ed98c2181 g.chr7:150069842G>A uc010lpq.1 + 4 2001 c.1512G>A c.(1510-1512)TCG>TCA p.S504S REPIN1_uc003whd.2_Silent_p.S493S|REPIN1_uc010lpr.1_Silent_p.S561S|REPIN1_uc003whc.2_Silent_p.S504S|REPIN1_uc003whe.2_Silent_p.S504S NM_013400 NP_037532 Q9BWE0 REPI1_HUMAN replication initiator 1 isoform 1 504 C2H2-type 13. DNA replication nuclear origin of replication recognition complex DNA binding|zinc ion binding pancreas(1) 1 Ovarian(565;0.183)|Melanoma(164;0.226) OV - Ovarian serous cystadenocarcinoma(82;0.011) ACCTGGTGTCGCACCGGCGCA 0.667 TEX15 56154 broad.mit.edu 37 8 30701172 30701172 + Nonsense_Mutation SNP G A A TCGA-19-5959-01A-11D-1696-08 TCGA-19-5959-11A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx dd3e4733-7154-4162-9a61-a3a685e5f561 3a0f00b9-668f-4afb-8d07-998ed98c2181 g.chr8:30701172G>A uc003xil.2 - 1 5362 c.5362C>T c.(5362-5364)CGA>TGA p.R1788* NM_031271 NP_112561 Q9BXT5 TEX15_HUMAN testis expressed 15 1788 ovary(3)|upper_aerodigestive_tract(2)|skin(2) 7 KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111) TTAACCTGTCGTTTGTACTTT 0.343 DPY19L4 286148 broad.mit.edu 37 8 95792643 95792643 + Silent SNP G A A TCGA-19-5959-01A-11D-1696-08 TCGA-19-5959-11A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx dd3e4733-7154-4162-9a61-a3a685e5f561 3a0f00b9-668f-4afb-8d07-998ed98c2181 g.chr8:95792643G>A uc003ygx.2 + 15 1756 c.1632G>A c.(1630-1632)GAG>GAA p.E544E NM_181787 NP_861452 Q7Z388 D19L4_HUMAN dpy-19-like 4 544 integral to membrane ovary(2) 2 Breast(36;3.85e-06) TATGGAAAGAGGtaaaaaaat 0.294 HAS2 3037 broad.mit.edu 37 8 122641443 122641443 + Silent SNP A G G TCGA-19-5959-01A-11D-1696-08 TCGA-19-5959-11A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx dd3e4733-7154-4162-9a61-a3a685e5f561 3a0f00b9-668f-4afb-8d07-998ed98c2181 g.chr8:122641443A>G uc003yph.2 - 2 676 c.138T>C c.(136-138)TTT>TTC p.F46F NM_005328 NP_005319 Q92819 HAS2_HUMAN hyaluronan synthase 2 46 Helical; Name=2; (Potential). integral to plasma membrane hyaluronan synthase activity HAS2/PLAG1(10) soft_tissue(10)|ovary(5) 15 Lung NSC(37;3.12e-08)|Ovarian(258;0.0254)|Hepatocellular(40;0.0997)|all_neural(195;0.142) STAD - Stomach adenocarcinoma(47;0.00503) CATACAGTCCAAAAGAGAAAT 0.418 FAM75C1 441452 broad.mit.edu 37 9 90536465 90536465 + Missense_Mutation SNP C T T TCGA-19-5959-01A-11D-1696-08 TCGA-19-5959-11A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx dd3e4733-7154-4162-9a61-a3a685e5f561 3a0f00b9-668f-4afb-8d07-998ed98c2181 g.chr9:90536465C>T uc010mqi.2 + 4 1672 c.1643C>T c.(1642-1644)GCG>GTG p.A548V FAM75C1_uc004apq.3_Missense_Mutation_p.A531V NM_001145124 NP_001138596 family with sequence similarity 75, member C1 0 GTTCTGGGGGCGACCTCTGAG 0.512 CTSL2 1515 broad.mit.edu 37 9 99799549 99799549 + Silent SNP C T T TCGA-19-5959-01A-11D-1696-08 TCGA-19-5959-11A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx dd3e4733-7154-4162-9a61-a3a685e5f561 3a0f00b9-668f-4afb-8d07-998ed98c2181 g.chr9:99799549C>T uc004awt.2 - 4 578 c.381G>A c.(379-381)ACG>ACA p.T127T CTSL2_uc010msi.2_Silent_p.T127T|CTSL2_uc004awu.2_Silent_p.T72T|CTSL2_uc010msj.1_Silent_p.T72T|CTSL2_uc010msk.2_Silent_p.T72T NM_001333 NP_001324 O60911 CATL2_HUMAN cathepsin L2 preproprotein 127 lysosome cysteine-type endopeptidase activity 0 Acute lymphoblastic leukemia(62;0.0559) TCTTCACTGGCGTCACGTAGC 0.483 C9orf98 158067 broad.mit.edu 37 9 135702390 135702390 + Missense_Mutation SNP C T T TCGA-19-5959-01A-11D-1696-08 TCGA-19-5959-11A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx dd3e4733-7154-4162-9a61-a3a685e5f561 3a0f00b9-668f-4afb-8d07-998ed98c2181 g.chr9:135702390C>T uc004cbu.1 - 8 1164 c.608G>A c.(607-609)CGT>CAT p.R203H C9orf98_uc010mzx.1_RNA|C9orf98_uc004cbv.1_5'UTR NM_152572 NP_689785 Q96MA6 KAD8_HUMAN putative adenylate kinase-like protein C9orf98 203 cytosol adenylate kinase activity|ATP binding|cytidylate kinase activity 0 OV - Ovarian serous cystadenocarcinoma(145;4.89e-06)|Epithelial(140;0.00016) CACCATGAGACGGTTCTGGAT 0.517 CACNA1B 774 broad.mit.edu 37 9 140881238 140881238 + Missense_Mutation SNP A G G TCGA-19-5959-01A-11D-1696-08 TCGA-19-5959-11A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx dd3e4733-7154-4162-9a61-a3a685e5f561 3a0f00b9-668f-4afb-8d07-998ed98c2181 g.chr9:140881238A>G uc004cog.2 + 15 2051 c.1906A>G c.(1906-1908)AAC>GAC p.N636D CACNA1B_uc011mfd.1_Missense_Mutation_p.N167D NM_000718 NP_000709 Q00975 CAC1B_HUMAN calcium channel, voltage-dependent, N type, 636 Extracellular (Potential).|II. membrane depolarization|synaptic transmission voltage-gated calcium channel complex ATP binding|protein C-terminus binding|voltage-gated calcium channel activity breast(3)|large_intestine(2)|ovary(1) 6 all_cancers(76;0.166) OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476) Amlodipine(DB00381)|Gabapentin(DB00996) CCTCAGGTTCAACTTCCAGGA 0.602 ZRSR2 8233 broad.mit.edu 37 X 15841126 15841126 + Missense_Mutation SNP G A A TCGA-19-5959-01A-11D-1696-08 TCGA-19-5959-11A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx dd3e4733-7154-4162-9a61-a3a685e5f561 3a0f00b9-668f-4afb-8d07-998ed98c2181 g.chrX:15841126G>A uc004cxg.3 + 11 1255 c.1210G>A c.(1210-1212)GGG>AGG p.G404R NM_005089 NP_005080 Q15696 U2AFM_HUMAN U2 small nuclear RNA auxiliary factor 1-like 2 404 spliceosome assembly U12-type spliceosomal complex nucleotide binding|pre-mRNA 3'-splice site binding|protein binding|zinc ion binding breast(3) 3 Hepatocellular(33;0.183) TCGTCACAGGGGGAAGAAATC 0.552 FTHL17 53940 broad.mit.edu 37 X 31089936 31089936 + Silent SNP G A A TCGA-19-5959-01A-11D-1696-08 TCGA-19-5959-11A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx dd3e4733-7154-4162-9a61-a3a685e5f561 3a0f00b9-668f-4afb-8d07-998ed98c2181 g.chrX:31089936G>A uc004dcl.1 - 1 238 c.135C>T c.(133-135)GAC>GAT p.D45D NM_031894 NP_114100 Q9BXU8 FHL17_HUMAN ferritin, heavy polypeptide-like 17 45 Ferritin-like diiron. cellular iron ion homeostasis|iron ion transport ferric iron binding|oxidoreductase activity 0 GGGCCACGTCGTCCCGGTTGA 0.582 HUWE1 10075 broad.mit.edu 37 X 53591568 53591568 + Frame_Shift_Del DEL C - - TCGA-19-5959-01A-11D-1696-08 TCGA-19-5959-11A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx dd3e4733-7154-4162-9a61-a3a685e5f561 3a0f00b9-668f-4afb-8d07-998ed98c2181 g.chrX:53591568delC uc004dsp.2 - 51 7398 c.6996delG c.(6994-6996)GGGfs p.G2332fs HUWE1_uc004dsn.2_Frame_Shift_Del_p.G1156fs NM_031407 NP_113584 Q7Z6Z7 HUWE1_HUMAN HECT, UBA and WWE domain containing 1 2332 Glu-rich. base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasm|nucleus DNA binding|protein binding|ubiquitin-protein ligase activity ovary(8)|large_intestine(4)|breast(4)|kidney(1) 17 CCTCAGGCTGCCCAGCAATCA 0.562 FAM155B 27112 broad.mit.edu 37 X 68725733 68725733 + Missense_Mutation SNP C T T TCGA-19-5959-01A-11D-1696-08 TCGA-19-5959-11A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx dd3e4733-7154-4162-9a61-a3a685e5f561 3a0f00b9-668f-4afb-8d07-998ed98c2181 g.chrX:68725733C>T uc004dxk.2 + 1 656 c.608C>T c.(607-609)ACG>ATG p.T203M NM_015686 NP_056501 O75949 F155B_HUMAN transmembrane protein 28 203 integral to membrane ovary(1)|breast(1) 2 GACACCTACACGGTCTGGGAC 0.632 AIFM1 9131 broad.mit.edu 37 X 129272643 129272643 + Missense_Mutation SNP G A A TCGA-19-5959-01A-11D-1696-08 TCGA-19-5959-11A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx dd3e4733-7154-4162-9a61-a3a685e5f561 3a0f00b9-668f-4afb-8d07-998ed98c2181 g.chrX:129272643G>A uc004evg.2 - 9 1070 c.892C>T c.(892-894)CGG>TGG p.R298W AIFM1_uc011mur.1_5'Flank|AIFM1_uc011mus.1_Missense_Mutation_p.R298W|AIFM1_uc004evh.2_Missense_Mutation_p.R294W|AIFM1_uc004evi.2_Intron|AIFM1_uc004evk.2_RNA NM_004208 NP_004199 O95831 AIFM1_HUMAN programmed cell death 8 isoform 1 298 FAD-dependent oxidoreductase (By similarity). activation of caspase activity|apoptosis in response to endoplasmic reticulum stress|cell redox homeostasis|DNA damage response, signal transduction resulting in induction of apoptosis|DNA fragmentation involved in apoptotic nuclear change cytosol|mitochondrial inner membrane|mitochondrial intermembrane space|nucleus|perinuclear region of cytoplasm DNA binding|electron carrier activity|flavin adenine dinucleotide binding|oxidoreductase activity|protein binding ovary(4)|central_nervous_system(1) 5 TTGACTTCCCGTGAAATCTTC 0.433 GPR112 139378 broad.mit.edu 37 X 135431775 135431775 + Silent SNP C T T TCGA-19-5959-01A-11D-1696-08 TCGA-19-5959-11A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx dd3e4733-7154-4162-9a61-a3a685e5f561 3a0f00b9-668f-4afb-8d07-998ed98c2181 g.chrX:135431775C>T uc004ezu.1 + 6 6201 c.5910C>T c.(5908-5910)GAC>GAT p.D1970D GPR112_uc010nsb.1_Silent_p.D1765D|GPR112_uc010nsc.1_Silent_p.D1737D NM_153834 NP_722576 Q8IZF6 GP112_HUMAN G-protein coupled receptor 112 1970 Extracellular (Potential). neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity ovary(5)|large_intestine(2)|skin(2)|lung(1)|breast(1)|pancreas(1) 12 Acute lymphoblastic leukemia(192;0.000127) CATTGGCTGACGTTAAGCACA 0.413 SRPK3 26576 broad.mit.edu 37 X 153049211 153049211 + Missense_Mutation SNP C A A TCGA-19-5959-01A-11D-1696-08 TCGA-19-5959-11A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx dd3e4733-7154-4162-9a61-a3a685e5f561 3a0f00b9-668f-4afb-8d07-998ed98c2181 g.chrX:153049211C>A uc004fil.2 + 9 811 c.779C>A c.(778-780)ACC>AAC p.T260N SRPK3_uc004fik.2_Missense_Mutation_p.T326N|SRPK3_uc010nul.2_Missense_Mutation_p.T217N|SRPK3_uc004fin.2_Missense_Mutation_p.T259N|SRPK3_uc004fim.2_Missense_Mutation_p.T259N NM_014370 NP_055185 Q9UPE1 SRPK3_HUMAN serine arginine rich protein-specific kinase 3 260 Protein kinase. cell differentiation|muscle organ development|muscle tissue development ATP binding|protein serine/threonine kinase activity pancreas(2)|lung(1) 3 all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05) TGACAGCAGACCGGTAAGCTG 0.622