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_alt_allele validation_method validation_status validation_tumor_sample pox qox pox_cutoff isArtifactMode oxoGCut PTPRG 5793 broad.mit.edu 37 3 62188855 62188855 + Silent SNP G G A TCGA-ND-A4WF-01A-11D-A28R-08 TCGA-ND-A4WF-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272251fa-e9b3-4808-9f03-2b9c9ce7c175 3441e5ff-7295-4777-8516-a7238d9d441b g.chr3:62188855G>A ENST00000474889.1 + 12 1763 c.1386G>A c.(1384-1386)gcG>gcA p.A462A PTPRG_ENST00000295874.10_Silent_p.A462A NM_002841.3 NP_002832.3 P23470 PTPRG_HUMAN protein tyrosine phosphatase, receptor type, G 462 transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane identical protein binding|transmembrane receptor protein tyrosine phosphatase activity NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|liver(2)|lung(15)|ovary(7)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 62 BRCA - Breast invasive adenocarcinoma(55;0.000376)|KIRC - Kidney renal clear cell carcinoma(10;0.0499)|Kidney(10;0.065) AGCCCACAGCGTCTCCTGCCT 0.547000 33 62 0 0 1 0 0 BTN2A3P 0 broad.mit.edu 37 6 26422353 26422353 + RNA SNP C C T rs141013110 TCGA-ND-A4WF-01A-11D-A28R-08 TCGA-ND-A4WF-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272251fa-e9b3-4808-9f03-2b9c9ce7c175 3441e5ff-7295-4777-8516-a7238d9d441b g.chr6:26422353C>T ENST00000466808.2 + 0 7 p.P3S(2) GCTCATGGAACCAGCTGCTGC 0.622000 6 158 0 0 1 0 0 COPB2 9276 broad.mit.edu 37 3 139078198 139078198 + Silent SNP A A G TCGA-ND-A4WF-01A-11D-A28R-08 TCGA-ND-A4WF-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272251fa-e9b3-4808-9f03-2b9c9ce7c175 3441e5ff-7295-4777-8516-a7238d9d441b g.chr3:139078198A>G ENST00000333188.5 - 18 2398 c.2217T>C c.(2215-2217)gaT>gaC p.D739D COPB2_ENST00000507777.1_Silent_p.D710D NM_004766.2 NP_004757.1 P35606 COPB2_HUMAN coatomer protein complex, subunit beta 2 (beta prime) 739 COPI coating of Golgi vesicle|intra-Golgi vesicle-mediated transport|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER COPI vesicle coat|cytosol protein binding|structural molecule activity breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 24 CTAGGCAGGCATCAACCCTAA 0.393000 29 37 0 0 1 0 0 PIK3CA 5290 broad.mit.edu 37 3 178952007 178952007 + Missense_Mutation SNP A A G rs121913288 TCGA-ND-A4WF-01A-11D-A28R-08 TCGA-ND-A4WF-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272251fa-e9b3-4808-9f03-2b9c9ce7c175 3441e5ff-7295-4777-8516-a7238d9d441b g.chr3:178952007A>G ENST00000263967.3 + 21 3219 c.3062A>G c.(3061-3063)tAc>tGc p.Y1021C NM_006218.2 NP_006209.2 P42336 PK3CA_HUMAN phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha 1021 PI3K/PI4K. Y -> C (in cancer).|Y -> H (in cancer).|Y -> N (in cancer). epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity p.Y1021C(23)|p.Y1021F(1) NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208) 5269 all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155) OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282) GACATTGCATACATTCGAAAG 0.388000 57 Mis """colorectal, gastric, gliobastoma, breast""" HNSCC(19;0.045)|TSP Lung(28;0.18) 126 25 0 0 1 0 0 FRG1B 0 broad.mit.edu 37 20 29614328 29614328 + Splice_Site SNP G G A rs137860963 by1000genomes TCGA-ND-A4WF-01A-11D-A28R-08 TCGA-ND-A4WF-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272251fa-e9b3-4808-9f03-2b9c9ce7c175 3441e5ff-7295-4777-8516-a7238d9d441b g.chr20:29614328G>A ENST00000278882.3 + 2 320 c.e2+1 FRG1B_ENST00000358464.4_Splice_Site|FRG1B_ENST00000439954.2_Splice_Site endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 TGATACGTTGGTGAGTCAGTT 0.289000 3 36 0 0 1 0 0 NFAT5 10725 broad.mit.edu 37 16 69724960 69724960 + Missense_Mutation SNP C C A TCGA-ND-A4WF-01A-11D-A28R-08 TCGA-ND-A4WF-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272251fa-e9b3-4808-9f03-2b9c9ce7c175 3441e5ff-7295-4777-8516-a7238d9d441b g.chr16:69724960C>A ENST00000349945.1 + 13 3162 c.1610C>A c.(1609-1611)aCa>aAa p.T537K NFAT5_ENST00000566899.1_Missense_Mutation_p.T537K|NFAT5_ENST00000393742.2_Missense_Mutation_p.T537K|NFAT5_ENST00000567239.1_Missense_Mutation_p.T630K|NFAT5_ENST00000354436.2_Missense_Mutation_p.T613K|NFAT5_ENST00000432919.1_Missense_Mutation_p.T631K NM_138714.3 NP_619728.2 O94916 NFAT5_HUMAN nuclear factor of activated T-cells 5, tonicity-responsive 613 excretion|signal transduction|transcription from RNA polymerase II promoter nucleus DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 37 ATGGAAGTAACAGCAGAAAAA 0.328000 13 31 7.03913e-09 7.67265e-09 1 1 0 NUDT14 256281 broad.mit.edu 37 14 105639417 105639417 + Missense_Mutation SNP C C T TCGA-ND-A4WF-01A-11D-A28R-08 TCGA-ND-A4WF-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272251fa-e9b3-4808-9f03-2b9c9ce7c175 3441e5ff-7295-4777-8516-a7238d9d441b g.chr14:105639417C>T ENST00000392568.2 - 5 703 c.610G>A c.(610-612)Gtc>Atc p.V204I RP11-44N21.4_ENST00000548203.1_RNA|NUDT14_ENST00000550912.1_5'UTR NM_177533.4 NP_803877.2 O95848 NUD14_HUMAN nudix (nucleoside diphosphate linked moiety X)-type motif 14 204 Nudix hydrolase. cytoplasm metal ion binding|protein binding|UDP-sugar diphosphatase activity p.V204I(1) cervix(2)|endometrium(1)|lung(3)|ovary(1)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1) 14 all_cancers(154;0.0336)|all_epithelial(191;0.0729)|Melanoma(154;0.155) OV - Ovarian serous cystadenocarcinoma(23;0.00989)|all cancers(16;0.0114)|Epithelial(46;0.0272) Epithelial(152;0.047)|OV - Ovarian serous cystadenocarcinoma(161;0.148)|all cancers(159;0.208) CCAAAGATGACGCCGAGGGTC 0.627000 HNSCC(42;0.11) 57 22 0 0 1 0 0 APOBEC1 339 broad.mit.edu 37 12 7803729 7803729 + Missense_Mutation SNP G G T TCGA-ND-A4WF-01A-11D-A28R-08 TCGA-ND-A4WF-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272251fa-e9b3-4808-9f03-2b9c9ce7c175 3441e5ff-7295-4777-8516-a7238d9d441b g.chr12:7803729G>T ENST00000229304.4 - 4 471 c.451C>A c.(451-453)Cac>Aac p.H151N NM_001644.3 NP_001635.2 P41238 ABEC1_HUMAN apolipoprotein B mRNA editing enzyme, catalytic polypeptide 1 151 cytidine to uridine editing|DNA demethylation|lipid metabolic process|mRNA modification|mRNA processing|negative regulation of methylation-dependent chromatin silencing nucleoplasm cytidine deaminase activity|RNA binding|zinc ion binding kidney(2)|large_intestine(2)|lung(10)|prostate(1)|skin(1)|stomach(1) 17 CTCCAGCAGTGATAATACTCT 0.458000 48 25 1.23103e-26 1.35537e-26 1 1 0 GARNL3 84253 broad.mit.edu 37 9 130095380 130095380 + Missense_Mutation SNP G G A TCGA-ND-A4WF-01A-11D-A28R-08 TCGA-ND-A4WF-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272251fa-e9b3-4808-9f03-2b9c9ce7c175 3441e5ff-7295-4777-8516-a7238d9d441b g.chr9:130095380G>A ENST00000373387.4 + 9 1101 c.749G>A c.(748-750)cGt>cAt p.R250H GARNL3_ENST00000314904.5_Missense_Mutation_p.R250H|GARNL3_ENST00000435213.2_Missense_Mutation_p.R228H NM_032293.4 NP_115669.3 Q5VVW2 GARL3_HUMAN GTPase activating Rap/RanGAP domain-like 3 250 Rap-GAP. regulation of small GTPase mediated signal transduction intracellular GTPase activator activity|small GTPase regulator activity NS(1)|central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(24)|ovary(1)|skin(1)|urinary_tract(2) 41 ACGGGCTACCGTGGCGGTCTG 0.428000 49 5 0 0 1 0 0 JARID2 3720 broad.mit.edu 37 6 15497073 15497073 + Silent SNP G G T TCGA-ND-A4WF-01A-11D-A28R-08 TCGA-ND-A4WF-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272251fa-e9b3-4808-9f03-2b9c9ce7c175 3441e5ff-7295-4777-8516-a7238d9d441b g.chr6:15497073G>T ENST00000341776.2 + 7 1861 c.1617G>T c.(1615-1617)tcG>tcT p.S539S JARID2_ENST00000397311.3_Silent_p.S367S|JARID2_ENST00000541660.1_Silent_p.S501S NM_004973.3 NP_004964.2 Q92833 JARD2_HUMAN jumonji, AT rich interactive domain 2 539 central nervous system development|chromatin modification|negative regulation of histone methylation|positive regulation of histone H3-K9 methylation|stem cell differentiation|transcription, DNA-dependent chromatin binding p.S539S(1) breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(5)|stomach(1) 59 Breast(50;0.0142)|Ovarian(93;0.103) all_hematologic(90;0.00612) CGCAGGACTCGGGCAAGGCCG 0.657000 21 33 4.96729e-08 5.36074e-08 1 1 0 C12orf42 374470 broad.mit.edu 37 12 103696308 103696308 + Missense_Mutation SNP C C T TCGA-ND-A4WF-01A-11D-A28R-08 TCGA-ND-A4WF-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272251fa-e9b3-4808-9f03-2b9c9ce7c175 3441e5ff-7295-4777-8516-a7238d9d441b g.chr12:103696308C>T ENST00000548048.1 - 9 956 c.460G>A c.(460-462)Ggc>Agc p.G154S C12orf42_ENST00000315192.8_Intron|C12orf42_ENST00000548883.1_Missense_Mutation_p.G221S|C12orf42_ENST00000378113.2_Missense_Mutation_p.G221S Q96LP6 CL042_HUMAN chromosome 12 open reading frame 42 221 NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(1) 22 CTGCAGAGGCCGATGGCAGTG 0.667000 34 57 0 0 1 0 0 FBXW7 0 broad.mit.edu 37 4 153249384 153249384 + Missense_Mutation SNP C C G TCGA-ND-A4WF-01A-11D-A28R-08 TCGA-ND-A4WF-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272251fa-e9b3-4808-9f03-2b9c9ce7c175 3441e5ff-7295-4777-8516-a7238d9d441b g.chr4:153249384C>G ENST00000281708.4 - 9 2623 c.1394G>C c.(1393-1395)cGt>cCt p.R465P FBXW7_ENST00000296555.5_Missense_Mutation_p.R347P|FBXW7_ENST00000603548.1_Missense_Mutation_p.R465P|FBXW7_ENST00000263981.5_Missense_Mutation_p.R385P|FBXW7_ENST00000603841.1_Missense_Mutation_p.R465P|FBXW7_ENST00000393956.3_Missense_Mutation_p.R289P NM_033632.3 NP_361014.1 Q969H0 FBXW7_HUMAN F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase 465 R -> C (in a acute lymphoblastic leukemia cell line).|R -> H (in a colorectal cancer sample; somatic mutation). interspecies interaction between organisms|lipid homeostasis|negative regulation of DNA endoreduplication|negative regulation of hepatocyte proliferation|negative regulation of Notch signaling pathway|negative regulation of triglyceride biosynthetic process|positive regulation of epidermal growth factor receptor activity|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|protein ubiquitination|regulation of lipid storage|regulation of protein localization|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|sister chromatid cohesion|vasculature development nucleolus|nucleoplasm|SCF ubiquitin ligase complex protein binding p.R465H(69)|p.R385H(16)|p.R226H(16)|p.R465L(4)|p.R347H(4)|p.R465Y(2)|p.?(1)|p.R385L(1)|p.R226L(1) NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6) 462 all_hematologic(180;0.093) Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067) ATGCATACAACGCACAGTGGA 0.408000 """Mis, N, D, F""" """colorectal, endometrial, T-ALL""" 42 57 0 0 1 0 0 CHDC2 286464 broad.mit.edu 37 X 36091420 36091420 + Missense_Mutation SNP T T G TCGA-ND-A4WF-01A-11D-A28R-08 TCGA-ND-A4WF-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272251fa-e9b3-4808-9f03-2b9c9ce7c175 3441e5ff-7295-4777-8516-a7238d9d441b g.chrX:36091420T>G ENST00000378660.1 + 4 543 c.355T>G c.(355-357)Ttc>Gtc p.F119V CHDC2_ENST00000313548.4_Missense_Mutation_p.F119V calponin homology domain containing 2 ACAGACCTGGTTCAGTCTCTT 0.403000 35 41 0 0 1 0 0 FRG1B 0 broad.mit.edu 37 20 29625941 29625941 + Missense_Mutation SNP A A T TCGA-ND-A4WF-01A-11D-A28R-08 TCGA-ND-A4WF-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272251fa-e9b3-4808-9f03-2b9c9ce7c175 3441e5ff-7295-4777-8516-a7238d9d441b g.chr20:29625941A>T ENST00000278882.3 + 5 565 c.185A>T c.(184-186)gAt>gTt p.D62V FRG1B_ENST00000358464.4_Missense_Mutation_p.D62V|FRG1B_ENST00000439954.2_Missense_Mutation_p.D67V p.D62V(2) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 GGGCATTCAGATGCAATTGGA 0.333000 4 72 0 0 1 0 0 USF1 7391 broad.mit.edu 37 1 161010072 161010072 + Missense_Mutation SNP G G A TCGA-ND-A4WF-01A-11D-A28R-08 TCGA-ND-A4WF-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272251fa-e9b3-4808-9f03-2b9c9ce7c175 3441e5ff-7295-4777-8516-a7238d9d441b g.chr1:161010072G>A ENST00000368021.3 - 10 967 c.763C>T c.(763-765)Cgg>Tgg p.R255W USF1_ENST00000368019.1_Missense_Mutation_p.R227W|USF1_ENST00000368020.1_Missense_Mutation_p.R255W|USF1_ENST00000435396.1_Missense_Mutation_p.R196W NM_007122.3 NP_009053.1 P22415 USF1_HUMAN upstream transcription factor 1 255 Helix-loop-helix motif. cellular response to insulin stimulus|glucose homeostasis|late viral mRNA transcription|lipid homeostasis|positive regulation of transcription from RNA polymerase II promoter by glucose|response to hypoxia|response to UV transcription factor complex bHLH transcription factor binding|histone deacetylase binding|protein heterodimerization activity|protein homodimerization activity|protein kinase binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity central_nervous_system(1)|large_intestine(3)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 9 all_cancers(52;6.73e-18)|Breast(13;0.012)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00122) TTACTCTGCCGAAGCTCCTGG 0.478000 4 152 0 0 1 0 0 CHD4 1108 broad.mit.edu 37 12 6686974 6686974 + Missense_Mutation SNP T T C TCGA-ND-A4WF-01A-11D-A28R-08 TCGA-ND-A4WF-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272251fa-e9b3-4808-9f03-2b9c9ce7c175 3441e5ff-7295-4777-8516-a7238d9d441b g.chr12:6686974T>C ENST00000309577.6 - 36 5585 c.5422A>G c.(5422-5424)Aaa>Gaa p.K1808E CHD4_ENST00000544484.1_Missense_Mutation_p.K1805E|CHD4_ENST00000544040.1_Missense_Mutation_p.K1773E|CHD4_ENST00000357008.2_Missense_Mutation_p.K1780E Q14839 CHD4_HUMAN chromodomain helicase DNA binding protein 4 1780 Required for interaction with PCNT. chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent microtubule organizing center|NuRD complex ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding central_nervous_system(2) 2 GCTAGAAATTTATTCTTGATC 0.468000 100 2 0 0 1 0 0 KCNQ3 3786 broad.mit.edu 37 8 133141882 133141882 + Missense_Mutation SNP G G A TCGA-ND-A4WF-01A-11D-A28R-08 TCGA-ND-A4WF-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272251fa-e9b3-4808-9f03-2b9c9ce7c175 3441e5ff-7295-4777-8516-a7238d9d441b g.chr8:133141882G>A ENST00000388996.4 - 15 2666 c.2246C>T c.(2245-2247)cCt>cTt p.P749L KCNQ3_ENST00000521134.1_Missense_Mutation_p.P629L|KCNQ3_ENST00000519445.1_Missense_Mutation_p.P737L NM_004519.3 NP_004510.1 O43525 KCNQ3_HUMAN potassium voltage-gated channel, KQT-like subfamily, member 3 749 axon guidance|synaptic transmission voltage-gated potassium channel complex voltage-gated potassium channel activity NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 70 Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.000311) AGTCAAGATAGGCAGGACCGT 0.617000 34 44 0 0 1 0 0 GRIA3 2892 broad.mit.edu 37 X 122616806 122616806 + Missense_Mutation SNP T T C TCGA-ND-A4WF-01A-11D-A28R-08 TCGA-ND-A4WF-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272251fa-e9b3-4808-9f03-2b9c9ce7c175 3441e5ff-7295-4777-8516-a7238d9d441b g.chrX:122616806T>C ENST00000264357.5 + 15 2888 c.2596T>C c.(2596-2598)Ttt>Ctt p.F866L GRIA3_ENST00000542149.1_3'UTR|GRIA3_ENST00000371256.5_Missense_Mutation_p.F866L|GRIA3_ENST00000371251.1_Missense_Mutation_p.F866L NM_000828.4 NP_000819.3 P42263 GRIA3_HUMAN glutamate receptor, ionotropic, AMPA 3 866 glutamate signaling pathway|synaptic transmission alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|postsynaptic membrane alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity breast(2)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|pancreas(2)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1) 57 L-Glutamic Acid(DB00142) CACCCAAAACTTTAAGCCTGC 0.468000 27 66 0 0 1 0 0 TNKS1BP1 85456 broad.mit.edu 37 11 57076216 57076216 + Silent SNP G G C TCGA-ND-A4WF-01A-11D-A28R-08 TCGA-ND-A4WF-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272251fa-e9b3-4808-9f03-2b9c9ce7c175 3441e5ff-7295-4777-8516-a7238d9d441b g.chr11:57076216G>C ENST00000532437.1 - 5 4280 c.3969C>G c.(3967-3969)acC>acG p.T1323T TNKS1BP1_ENST00000358252.3_Silent_p.T1323T Q9C0C2 TB182_HUMAN tankyrase 1 binding protein 1, 182kDa 1323 Acidic.|Gly-rich. nuclear-transcribed mRNA poly(A) tail shortening|telomere maintenance via telomerase cytoskeleton|cytosol|nuclear telomeric heterochromatin ankyrin binding|enzyme binding breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 64 all_epithelial(135;0.21) CTGGGTCACAGGTCACCTCCA 0.612000 206 252 0 0 1 0 0 SLC5A8 160728 broad.mit.edu 37 12 101551128 101551128 + Missense_Mutation SNP C C G TCGA-ND-A4WF-01A-11D-A28R-08 TCGA-ND-A4WF-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272251fa-e9b3-4808-9f03-2b9c9ce7c175 3441e5ff-7295-4777-8516-a7238d9d441b g.chr12:101551128C>G ENST00000536262.2 - 15 2320 c.1762G>C c.(1762-1764)Gat>Cat p.D588H NM_145913.3 NP_666018.3 Q8N695 SC5A8_HUMAN solute carrier family 5 (sodium/monocarboxylate cotransporter), member 8 588 apoptosis|sodium ion transport apical plasma membrane|integral to membrane monocarboxylic acid transmembrane transporter activity|passive transmembrane transporter activity|symporter activity breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(29)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 47 GCAGGATTATCAGTTCCACCA 0.388000 11 15 0 0 1 0 0 SPANXN3 139067 broad.mit.edu 37 X 142605155 142605155 + Missense_Mutation SNP T T C TCGA-ND-A4WF-01A-11D-A28R-08 TCGA-ND-A4WF-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272251fa-e9b3-4808-9f03-2b9c9ce7c175 3441e5ff-7295-4777-8516-a7238d9d441b g.chrX:142605155T>C ENST00000370503.2 - 1 148 c.65A>G c.(64-66)aAa>aGa p.K22R NM_001009609.2 NP_001009609.1 Q5MJ09 SPXN3_HUMAN SPANX family, member N3 22 endometrium(1)|large_intestine(1)|lung(9)|ovary(2)|urinary_tract(1) 14 Acute lymphoblastic leukemia(192;6.56e-05) ATCATTTTTTTTGTTATTGGA 0.453000 5 121 0 0 1 0 0 MKX 283078 broad.mit.edu 37 10 28023623 28023623 + Silent SNP C C T TCGA-ND-A4WF-01A-11D-A28R-08 TCGA-ND-A4WF-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272251fa-e9b3-4808-9f03-2b9c9ce7c175 3441e5ff-7295-4777-8516-a7238d9d441b g.chr10:28023623C>T ENST00000375790.5 - 5 1032 c.600G>A c.(598-600)gcG>gcA p.A200A MKX_ENST00000419761.1_Silent_p.A200A Q8IYA7 MKX_HUMAN mohawk homeobox 200 muscle organ development nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|ovary(2)|skin(2) 16 GCCTCACTCCCGCTTTGATGA 0.488000 22 83 0 0 1 0 0 DUSP27 92235 broad.mit.edu 37 1 167096275 167096275 + Missense_Mutation SNP C C T TCGA-ND-A4WF-01A-11D-A28R-08 TCGA-ND-A4WF-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272251fa-e9b3-4808-9f03-2b9c9ce7c175 3441e5ff-7295-4777-8516-a7238d9d441b g.chr1:167096275C>T ENST00000361200.2 + 6 2073 c.1907C>T c.(1906-1908)aCg>aTg p.T636M DUSP27_ENST00000271385.5_Missense_Mutation_p.T636M|DUSP27_ENST00000485151.1_Intron|DUSP27_ENST00000443333.1_Missense_Mutation_p.T636M Q5VZP5 DUS27_HUMAN dual specificity phosphatase 27 (putative) 636 protein dephosphorylation protein tyrosine/serine/threonine phosphatase activity NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3) 89 AGCCGGCAGACGCTGGAGGAG 0.632000 27 28 0 0 1 0 0 FARSB 10056 broad.mit.edu 37 2 223499175 223499175 + Missense_Mutation SNP T T C TCGA-ND-A4WF-01A-11D-A28R-08 TCGA-ND-A4WF-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272251fa-e9b3-4808-9f03-2b9c9ce7c175 3441e5ff-7295-4777-8516-a7238d9d441b g.chr2:223499175T>C ENST00000281828.6 - 6 804 c.541A>G c.(541-543)Atc>Gtc p.I181V FARSB_ENST00000536361.1_Missense_Mutation_p.I82V NM_005687.3 NP_005678.3 Q9NSD9 SYFB_HUMAN phenylalanyl-tRNA synthetase, beta subunit 181 phenylalanyl-tRNA aminoacylation cytosol|soluble fraction ATP binding|magnesium ion binding|phenylalanine-tRNA ligase activity|RNA binding breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 24 Renal(207;0.0183) Epithelial(121;3.47e-10)|all cancers(144;1.86e-07)|LUSC - Lung squamous cell carcinoma(224;0.00871)|Lung(261;0.011) L-Phenylalanine(DB00120) TTGAATTTGATATCTGAAGGA 0.398000 11 21 0 0 1 0 0 LUM 4060 broad.mit.edu 37 12 91502614 91502614 + Missense_Mutation SNP G G A TCGA-ND-A4WF-01A-11D-A28R-08 TCGA-ND-A4WF-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272251fa-e9b3-4808-9f03-2b9c9ce7c175 3441e5ff-7295-4777-8516-a7238d9d441b g.chr12:91502614G>A ENST00000266718.4 - 2 597 c.143C>T c.(142-144)cCa>cTa p.P48L LUM_ENST00000548071.1_Intron NM_002345.3 NP_002336.1 P51884 LUM_HUMAN lumican 48 Cys-rich.|LRRNT. collagen fibril organization|visual perception extracellular space|fibrillar collagen collagen binding|extracellular matrix structural constituent central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|skin(1)|upper_aerodigestive_tract(1) 24 CATGGCACTTGGGTAGCTTTC 0.418000 18 23 0 0 1 0 0 ADAMTSL1 92949 broad.mit.edu 37 9 18622331 18622331 + Nonsense_Mutation SNP C C T TCGA-ND-A4WF-01A-11D-A28R-08 TCGA-ND-A4WF-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272251fa-e9b3-4808-9f03-2b9c9ce7c175 3441e5ff-7295-4777-8516-a7238d9d441b g.chr9:18622331C>T ENST00000380548.4 + 5 904 c.565C>T c.(565-567)Cga>Tga p.R189* ADAMTSL1_ENST00000276935.6_Nonsense_Mutation_p.R189*|ADAMTSL1_ENST00000380570.4_Nonsense_Mutation_p.R189*|ADAMTSL1_ENST00000327883.7_Nonsense_Mutation_p.R189*|ADAMTSL1_ENST00000380566.4_Nonsense_Mutation_p.R189* NM_001040272.5 NP_001035362.3 Q8N6G6 ATL1_HUMAN ADAMTS-like 1 189 proteinaceous extracellular matrix metallopeptidase activity|zinc ion binding breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 42 GBM - Glioblastoma multiforme(50;1.29e-17) CCGGCTGGTCCGAGGGCAGTA 0.532000 29 61 0 0 1 0 0 SIGLEC10 89790 broad.mit.edu 37 19 51920476 51920476 + Missense_Mutation SNP C C T TCGA-ND-A4WF-01A-11D-A28R-08 TCGA-ND-A4WF-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272251fa-e9b3-4808-9f03-2b9c9ce7c175 3441e5ff-7295-4777-8516-a7238d9d441b g.chr19:51920476C>T ENST00000353836.5 - 2 502 c.281G>A c.(280-282)gGg>gAg p.G94E CTD-2616J11.2_ENST00000532688.1_RNA|SIGLEC10_ENST00000441969.3_Missense_Mutation_p.G94E|SIGLEC10_ENST00000525998.1_Missense_Mutation_p.G94E|SIGLEC10_ENST00000439889.2_Missense_Mutation_p.G94E|SIGLEC10_ENST00000442846.3_Missense_Mutation_p.G94E|SIGLEC10_ENST00000339313.5_Missense_Mutation_p.G94E|SIGLEC10_ENST00000436984.2_Missense_Mutation_p.G94E|SIGLEC10_ENST00000356298.5_Missense_Mutation_p.G94E|SIGLEC10_ENST00000432469.2_Missense_Mutation_p.G94E NM_001171157.1|NM_001171158.1|NM_001171159.1 NP_001164628.1|NP_001164629.1|NP_001164630.1 Q96LC7 SIG10_HUMAN sialic acid binding Ig-like lectin 10 94 Ig-like V-type. cell adhesion extracellular region|integral to membrane|plasma membrane sugar binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(27)|ovary(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 58 all_neural(266;0.0199) GBM - Glioblastoma multiforme(134;0.000668)|OV - Ovarian serous cystadenocarcinoma(262;0.0101) GGCGGGATCCCCAGTGAGCTG 0.562000 51 37 0 0 1 0 0 CDH26 60437 broad.mit.edu 37 20 58533811 58533811 + Silent SNP G G C TCGA-ND-A4WF-01A-11D-A28R-08 TCGA-ND-A4WF-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272251fa-e9b3-4808-9f03-2b9c9ce7c175 3441e5ff-7295-4777-8516-a7238d9d441b g.chr20:58533811G>C ENST00000348616.4 + 1 330 c.30G>C c.(28-30)tcG>tcC p.S10S CDH26_ENST00000244047.5_Silent_p.S10S NM_177980.2 NP_817089.1 Q8IXH8 CAD26_HUMAN cadherin 26 10 homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(11)|lung(14)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1) 44 all_lung(29;0.00963) BRCA - Breast invasive adenocarcinoma(7;5.58e-09) GGCACCCCTCgctgctgctgc 0.587000 23 57 0 0 1 0 0 SLC25A28 81894 broad.mit.edu 37 10 101379857 101379857 + Missense_Mutation SNP C C G TCGA-ND-A4WF-01A-11D-A28R-08 TCGA-ND-A4WF-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272251fa-e9b3-4808-9f03-2b9c9ce7c175 3441e5ff-7295-4777-8516-a7238d9d441b g.chr10:101379857C>G ENST00000370495.4 - 1 264 c.236G>C c.(235-237)gGc>gCc p.G79A SLC25A28_ENST00000496035.1_Intron NM_031212.3 NP_112489.3 Q96A46 MFRN2_HUMAN solute carrier family 25 (mitochondrial iron transporter), member 28 79 ion transport|iron ion homeostasis integral to membrane|mitochondrial inner membrane endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(2)|stomach(1) 11 Colorectal(252;0.234) Epithelial(162;2.57e-10)|all cancers(201;2.01e-08) TGCCACGGCGCCTGCCACCAT 0.692000 8 17 0 0 1 0 0 KLHL4 0 broad.mit.edu 37 X 86869493 86869493 + Missense_Mutation SNP T T A TCGA-ND-A4WF-01A-11D-A28R-08 TCGA-ND-A4WF-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272251fa-e9b3-4808-9f03-2b9c9ce7c175 3441e5ff-7295-4777-8516-a7238d9d441b g.chrX:86869493T>A ENST00000373119.4 + 3 792 c.647T>A c.(646-648)cTt>cAt p.L216H KLHL4_ENST00000373114.4_Missense_Mutation_p.L216H NM_019117.4 NP_061990.2 Q9C0H6 KLHL4_HUMAN kelch-like family member 4 216 BTB. cytoplasm|microtubule cytoskeleton|nucleolus actin binding NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(29)|ovary(2)|prostate(1)|skin(1) 67 AATGATGTGCTTGAAGCCAAA 0.378000 16 18 0 0 1 0 0 RP11-14N7.2 0 broad.mit.edu 37 1 148933289 148933289 + RNA SNP A A G rs9729175 by1000genomes TCGA-ND-A4WF-01A-11D-A28R-08 TCGA-ND-A4WF-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272251fa-e9b3-4808-9f03-2b9c9ce7c175 3441e5ff-7295-4777-8516-a7238d9d441b g.chr1:148933289A>G ENST00000539543.1 + 0 176 NR_027355.1 TGCTGCCCGCAGGATATTGTG 0.562000 5 27 0 0 1 0 0 NOS2 4843 broad.mit.edu 37 17 26116637 26116637 + Missense_Mutation SNP G G A rs141421929 byFrequency TCGA-ND-A4WF-01A-11D-A28R-08 TCGA-ND-A4WF-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272251fa-e9b3-4808-9f03-2b9c9ce7c175 3441e5ff-7295-4777-8516-a7238d9d441b g.chr17:26116637G>A ENST00000313735.6 - 3 421 c.188C>T c.(187-189)aCg>aTg p.T63M NM_000625.4 NP_000616.3 P35228 NOS2_HUMAN nitric oxide synthase 2, inducible 63 arginine catabolic process|defense response to Gram-negative bacterium|innate immune response in mucosa|nitric oxide biosynthetic process|peptidyl-cysteine S-nitrosylation|platelet activation|positive regulation of killing of cells of other organism|positive regulation of leukocyte mediated cytotoxicity|regulation of cellular respiration|regulation of insulin secretion|superoxide metabolic process cytosol|nucleus arginine binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|protein homodimerization activity|tetrahydrobiopterin binding autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(28)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 56 Dexamethasone(DB01234)|Hydrocortisone(DB00741)|L-Arginine(DB00125)|L-Citrulline(DB00155) GACCTTTCCCGTCTCCACGAG 0.567000 78 3 0 0 1 0 0 ZFPM2 23414 broad.mit.edu 37 8 106814196 106814196 + Missense_Mutation SNP C C T TCGA-ND-A4WF-01A-11D-A28R-08 TCGA-ND-A4WF-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272251fa-e9b3-4808-9f03-2b9c9ce7c175 3441e5ff-7295-4777-8516-a7238d9d441b g.chr8:106814196C>T ENST00000407775.2 + 8 2136 c.1886C>T c.(1885-1887)tCc>tTc p.S629F RP11-152P17.2_ENST00000520594.1_RNA|RP11-152P17.2_ENST00000509144.2_RNA|ZFPM2_ENST00000517361.1_Missense_Mutation_p.S497F|ZFPM2_ENST00000520492.1_Missense_Mutation_p.S497F|RP11-152P17.2_ENST00000521622.1_RNA|RP11-152P17.2_ENST00000520433.1_RNA|RP11-152P17.2_ENST00000518932.1_RNA|RP11-152P17.2_ENST00000524045.2_RNA|ZFPM2_ENST00000378472.4_Missense_Mutation_p.S360F|ZFPM2_ENST00000522296.1_3'UTR NM_012082.3 NP_036214.2 Q8WW38 FOG2_HUMAN zinc finger protein, FOG family member 2 629 blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis nucleoplasm DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 99 OV - Ovarian serous cystadenocarcinoma(57;8.28e-08) ATCAATTCTTCCACTGTCTTA 0.443000 24 72 0 0 1 0 0 GLI3 2737 broad.mit.edu 37 7 42004014 42004014 + Missense_Mutation SNP T T C TCGA-ND-A4WF-01A-11D-A28R-08 TCGA-ND-A4WF-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272251fa-e9b3-4808-9f03-2b9c9ce7c175 3441e5ff-7295-4777-8516-a7238d9d441b g.chr7:42004014T>C ENST00000395925.3 - 15 4741 c.4657A>G c.(4657-4659)Agc>Ggc p.S1553G GLI3_ENST00000479210.1_5'UTR NM_000168.5 NP_000159.3 P10071 GLI3_HUMAN GLI family zinc finger 3 1553 negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis cilium|cytosol|nucleolus beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 112 TTGGTGGTGCTCATGGACAGC 0.547000 Pallister-Hall syndrome;Greig Cephalopolysyndactyly 29 33 0 0 1 0 0 IFT74 80173 broad.mit.edu 37 9 26961996 26961996 + Missense_Mutation SNP C C T TCGA-ND-A4WF-01A-11D-A28R-08 TCGA-ND-A4WF-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272251fa-e9b3-4808-9f03-2b9c9ce7c175 3441e5ff-7295-4777-8516-a7238d9d441b g.chr9:26961996C>T ENST00000443698.1 + 2 202 c.31C>T c.(31-33)Cgc>Tgc p.R11C IFT74_ENST00000429045.2_Missense_Mutation_p.R11C|IFT74_ENST00000433700.1_Missense_Mutation_p.R11C|IFT74_ENST00000380062.5_Missense_Mutation_p.R11C NM_001099222.1 NP_001092692.1 Q96LB3 IFT74_HUMAN intraflagellar transport 74 homolog (Chlamydomonas) 11 cytoplasmic membrane-bounded vesicle|intraflagellar transport particle B|microtubule-based flagellum endometrium(1)|large_intestine(1)|lung(2)|prostate(1)|skin(1) 6 all_neural(11;2.36e-10) Lung(218;1.4e-05)|LUSC - Lung squamous cell carcinoma(38;0.000114) TTCAGCAGCTCGCCCTGTTTC 0.433000 45 42 0 0 1 0 0 LL22NC03-80A10.6 0 broad.mit.edu 37 22 22664056 22664056 + RNA SNP T T C rs3178309 TCGA-ND-A4WF-01A-11D-A28R-08 TCGA-ND-A4WF-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272251fa-e9b3-4808-9f03-2b9c9ce7c175 3441e5ff-7295-4777-8516-a7238d9d441b g.chr22:22664056T>C ENST00000426066.1 + 0 623 NR_027293.1 ATAAAGTATATGATTTTGTGT 0.348000 3 26 0 0 1 0 0 RP11-483E23.2 0 broad.mit.edu 37 15 28599954 28599954 + RNA SNP A A G rs144345425 by1000genomes TCGA-ND-A4WF-01A-11D-A28R-08 TCGA-ND-A4WF-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272251fa-e9b3-4808-9f03-2b9c9ce7c175 3441e5ff-7295-4777-8516-a7238d9d441b g.chr15:28599954A>G ENST00000568624.1 - 0 452 GGCTGTAGTAAAGTGCCATCT 0.478000 5 107 0 0 1 0 0 WDR36 134430 broad.mit.edu 37 5 110438053 110438053 + Silent SNP A A G TCGA-ND-A4WF-01A-11D-A28R-08 TCGA-ND-A4WF-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272251fa-e9b3-4808-9f03-2b9c9ce7c175 3441e5ff-7295-4777-8516-a7238d9d441b g.chr5:110438053A>G ENST00000506538.2 + 6 1293 c.720A>G c.(718-720)ctA>ctG p.L240L WDR36_ENST00000513710.2_Silent_p.L240L|WDR36_ENST00000505303.1_Silent_p.L184L NM_139281.2 NP_644810.1 Q8NI36 WDR36_HUMAN WD repeat domain 36 240 response to stimulus|rRNA processing|visual perception small-subunit processome cervix(1)|endometrium(9)|kidney(4)|large_intestine(11)|lung(13)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 45 all_cancers(142;2.72e-05)|all_epithelial(76;4.4e-07)|Prostate(80;0.00955)|Lung NSC(167;0.0418)|Ovarian(225;0.0443)|Colorectal(57;0.0465)|all_lung(232;0.0508)|Breast(839;0.244) OV - Ovarian serous cystadenocarcinoma(64;1.39e-08)|Epithelial(69;1.82e-07)|all cancers(49;2.04e-05)|COAD - Colon adenocarcinoma(37;0.111) GTAAACTTCTATATACATTTC 0.303000 19 9 0 0 1 0 0 TLR1 7096 broad.mit.edu 37 4 38800071 38800071 + Missense_Mutation SNP C C A TCGA-ND-A4WF-01A-11D-A28R-08 TCGA-ND-A4WF-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272251fa-e9b3-4808-9f03-2b9c9ce7c175 3441e5ff-7295-4777-8516-a7238d9d441b g.chr4:38800071C>A ENST00000308979.2 - 4 655 c.382G>T c.(382-384)Gcc>Tcc p.A128S TLR1_ENST00000502213.2_Missense_Mutation_p.A128S NM_003263.3 NP_003254.2 Q15399 TLR1_HUMAN toll-like receptor 1 128 cellular response to triacyl bacterial lipopeptide|detection of triacyl bacterial lipopeptide|inflammatory response|innate immune response|macrophage activation|positive regulation of interleukin-6 biosynthetic process|positive regulation of tumor necrosis factor biosynthetic process integral to plasma membrane|phagocytic vesicle membrane|Toll-like receptor 1-Toll-like receptor 2 protein complex protein heterodimerization activity|transmembrane receptor activity cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(2) 28 ATAGGCAGGGCATCAAATGCA 0.418000 46 62 5.48756e-27 6.10351e-27 1 1 0 GAA 2548 broad.mit.edu 37 17 78081505 78081505 + Missense_Mutation SNP G G A TCGA-ND-A4WF-01A-11D-A28R-08 TCGA-ND-A4WF-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272251fa-e9b3-4808-9f03-2b9c9ce7c175 3441e5ff-7295-4777-8516-a7238d9d441b g.chr17:78081505G>A ENST00000302262.3 + 4 1061 c.842G>A c.(841-843)cGg>cAg p.R281Q GAA_ENST00000390015.3_Missense_Mutation_p.R281Q NM_000152.3 NP_000143.2 P10253 LYAG_HUMAN glucosidase, alpha; acid 281 cardiac muscle contraction|diaphragm contraction|glycogen catabolic process|lysosome organization|tongue morphogenesis|vacuolar sequestering|ventricular cardiac muscle tissue morphogenesis lysosomal membrane carbohydrate binding|maltose alpha-glucosidase activity autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(6)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 21 all_neural(118;0.117) OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.139) Acarbose(DB00284) CTGTGGAACCGGGACCTTGCG 0.692000 68 41 0 0 1 0 0 ABCC10 89845 broad.mit.edu 37 6 43401078 43401078 + Missense_Mutation SNP C C T TCGA-ND-A4WF-01A-11D-A28R-08 TCGA-ND-A4WF-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272251fa-e9b3-4808-9f03-2b9c9ce7c175 3441e5ff-7295-4777-8516-a7238d9d441b g.chr6:43401078C>T ENST00000244533.3 + 1 1590 c.1231C>T c.(1231-1233)Cac>Tac p.H411Y ABCC10_ENST00000372530.4_Missense_Mutation_p.H454Y|ABCC10_ENST00000443426.2_3'UTR NM_033450.2 NP_258261.2 Q5T3U5 MRP7_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 10 454 ABC transmembrane type-1 1. integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(8)|lung(21)|ovary(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 56 all_lung(25;0.00536) Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804) AATGCTACAGCACAAGGATGC 0.597000 32 23 0 0 1 0 0 FLG 2312 broad.mit.edu 37 1 152287054 152287054 + Missense_Mutation SNP T T C TCGA-ND-A4WF-01A-11D-A28R-08 TCGA-ND-A4WF-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272251fa-e9b3-4808-9f03-2b9c9ce7c175 3441e5ff-7295-4777-8516-a7238d9d441b g.chr1:152287054T>C ENST00000368799.1 - 3 343 c.308A>G c.(307-309)aAg>aGg p.K103R FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000392688.2_RNA NM_002016.1 NP_002007.1 P20930 FILA_HUMAN filaggrin 103 keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12) 424 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) ATGACTGTGCTTTCTGTGCTT 0.363000 Ichthyosis 11 87 0 0 1 0 0 NBPF10 100132406 broad.mit.edu 37 1 145296373 145296373 + Missense_Mutation SNP G G T rs3969711 TCGA-ND-A4WF-01A-11D-A28R-08 TCGA-ND-A4WF-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272251fa-e9b3-4808-9f03-2b9c9ce7c175 3441e5ff-7295-4777-8516-a7238d9d441b g.chr1:145296373G>T ENST00000342960.5 + 3 330 c.295G>T c.(295-297)Gtt>Ttt p.V99F NBPF10_ENST00000369338.1_Intron|RP11-458D21.5_ENST00000468030.1_3'UTR|NBPF10_ENST00000369339.2_Intron NM_001039703.4 NP_001034792.4 A6NDV3 A6NDV3_HUMAN neuroblastoma breakpoint family, member 10 99 p.V99F(1) NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2) 73 all_hematologic(923;0.032) Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258) TAAAGTCCTAGTTCACTCTCA 0.473000 5 221 0.184627 0.186337 1 1 0 UTRN 7402 broad.mit.edu 37 6 144780347 144780347 + Missense_Mutation SNP T T C TCGA-ND-A4WF-01A-11D-A28R-08 TCGA-ND-A4WF-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272251fa-e9b3-4808-9f03-2b9c9ce7c175 3441e5ff-7295-4777-8516-a7238d9d441b g.chr6:144780347T>C ENST00000367545.3 + 20 2564 c.2564T>C c.(2563-2565)aTt>aCt p.I855T NM_007124.2 NP_009055.2 P46939 UTRO_HUMAN utrophin 855 Interaction with SYNM. muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane actin binding|calcium ion binding|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 148 Ovarian(120;0.218) OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213) CACCCCAAAATTGAAATGGCT 0.498000 11 56 0 0 1 0 0 CCL14 6358 broad.mit.edu 37 17 34310906 34310906 + Silent SNP G G A TCGA-ND-A4WF-01A-11D-A28R-08 TCGA-ND-A4WF-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272251fa-e9b3-4808-9f03-2b9c9ce7c175 3441e5ff-7295-4777-8516-a7238d9d441b g.chr17:34310906G>A ENST00000480944.2 - 2 2685 c.279C>T c.(277-279)ggC>ggT p.G93G CCL15-CCL14_ENST00000481427.2_3'UTR|CTB-186H2.3_ENST00000593057.1_Intron|CCL14_ENST00000536149.1_Silent_p.G87G|CCL14_ENST00000394509.4_Silent_p.G71G|CCL14_ENST00000586216.1_3'UTR|CCL14_ENST00000435911.2_Silent_p.G87G Q16627 CCL14_HUMAN chemokine (C-C motif) ligand 14 71 cellular calcium ion homeostasis|immune response|positive regulation of cell proliferation extracellular space chemokine activity|signal transducer activity large_intestine(1)|lung(6) 7 Ovarian(249;0.17) UCEC - Uterine corpus endometrioid carcinoma (308;0.0182) AGACGGAATGGCCCCTTTTGG 0.557000 5 52 0 0 1 0 0 PTPRO 5800 broad.mit.edu 37 12 15704527 15704527 + Missense_Mutation SNP C C T TCGA-ND-A4WF-01A-11D-A28R-08 TCGA-ND-A4WF-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272251fa-e9b3-4808-9f03-2b9c9ce7c175 3441e5ff-7295-4777-8516-a7238d9d441b g.chr12:15704527C>T ENST00000281171.4 + 15 2810 c.2480C>T c.(2479-2481)gCc>gTc p.A827V PTPRO_ENST00000544244.1_Missense_Mutation_p.A16V|PTPRO_ENST00000445537.2_Missense_Mutation_p.A16V|PTPRO_ENST00000442921.2_Missense_Mutation_p.A16V|PTPRO_ENST00000542557.1_Missense_Mutation_p.A16V|PTPRO_ENST00000348962.2_Missense_Mutation_p.A827V NM_030667.2 NP_109592.1 Q16827 PTPRO_HUMAN protein tyrosine phosphatase, receptor type, O 827 integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity NS(2)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(11)|lung(30)|ovary(2)|prostate(1)|skin(17)|upper_aerodigestive_tract(1) 74 Hepatocellular(102;0.244) TCCGTGCTGGCCATCCTTAGC 0.383000 4 116 0 0 1 0 0 NSUN3 63899 broad.mit.edu 37 3 93813928 93813928 + Missense_Mutation SNP G G A TCGA-ND-A4WF-01A-11D-A28R-08 TCGA-ND-A4WF-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272251fa-e9b3-4808-9f03-2b9c9ce7c175 3441e5ff-7295-4777-8516-a7238d9d441b g.chr3:93813928G>A ENST00000314622.4 + 5 884 c.673G>A c.(673-675)Gac>Aac p.D225N NM_022072.3 NP_071355.1 Q9H649 NSUN3_HUMAN NOP2/Sun domain family, member 3 225 methyltransferase activity breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|skin(1) 18 GTTTTCTTCTGACTCTCAGAA 0.383000 18 30 0 0 1 0 0 FER 2241 broad.mit.edu 37 5 108203563 108203563 + Nonsense_Mutation SNP C C T TCGA-ND-A4WF-01A-11D-A28R-08 TCGA-ND-A4WF-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272251fa-e9b3-4808-9f03-2b9c9ce7c175 3441e5ff-7295-4777-8516-a7238d9d441b g.chr5:108203563C>T ENST00000281092.4 + 6 961 c.577C>T c.(577-579)Cag>Tag p.Q193* FER_ENST00000438717.2_Nonsense_Mutation_p.Q18*|FER_ENST00000536402.1_Nonsense_Mutation_p.Q193* NM_005246.2 NP_005237.2 P16591 FER_HUMAN fer (fps/fes related) tyrosine kinase 193 Important for interaction with membranes containing phosphoinositides. intracellular signal transduction|peptidyl-tyrosine phosphorylation cytoplasm|nucleus ATP binding|non-membrane spanning protein tyrosine kinase activity NS(2)|biliary_tract(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(2) 32 all_cancers(142;2.86e-06)|all_epithelial(76;9.81e-08)|Prostate(80;0.00972)|Lung NSC(167;0.039)|Ovarian(225;0.0448)|all_lung(232;0.0496)|Colorectal(57;0.0986)|Breast(839;0.152) OV - Ovarian serous cystadenocarcinoma(64;6.77e-10)|Epithelial(69;4.13e-08)|COAD - Colon adenocarcinoma(37;0.0174) GAAAGGGGCACAGCTCCATCA 0.403000 7 32 0 0 1 0 0 MEMO1 51072 broad.mit.edu 37 2 32108519 32108519 + Missense_Mutation SNP C C G TCGA-ND-A4WF-01A-11D-A28R-08 TCGA-ND-A4WF-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272251fa-e9b3-4808-9f03-2b9c9ce7c175 3441e5ff-7295-4777-8516-a7238d9d441b g.chr2:32108519C>G ENST00000295065.4 - 7 902 c.593G>C c.(592-594)cGt>cCt p.R198P MEMO1_ENST00000404530.1_Missense_Mutation_p.R198P|DPY30_ENST00000446765.1_5'UTR|MEMO1_ENST00000490459.1_Intron|MEMO1_ENST00000379383.3_Missense_Mutation_p.R201P|MEMO1_ENST00000426310.2_Missense_Mutation_p.R175P NM_015955.2 NP_057039.1 Q9Y316 MEMO1_HUMAN mediator of cell motility 1 198 regulation of microtubule-based process cytosol|nucleus NS(1)|breast(1)|kidney(3)|large_intestine(5)|lung(4)|ovary(1)|skin(2) 17 Acute lymphoblastic leukemia(172;0.155) GTAACTGTAACGGAACCTTTG 0.338000 61 126 0 0 1 0 0 ARHGEF11 9826 broad.mit.edu 37 1 157014118 157014118 + Missense_Mutation SNP C C G TCGA-ND-A4WF-01A-11D-A28R-08 TCGA-ND-A4WF-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272251fa-e9b3-4808-9f03-2b9c9ce7c175 3441e5ff-7295-4777-8516-a7238d9d441b g.chr1:157014118C>G ENST00000368194.3 - 1 1044 c.5G>C c.(4-6)aGt>aCt p.S2T ARHGEF11_ENST00000361409.2_Missense_Mutation_p.S2T NM_198236.2 NP_937879.1 O15085 ARHGB_HUMAN Rho guanine nucleotide exchange factor (GEF) 11 2 actin cytoskeleton organization|apoptosis|axon guidance|cellular component movement|cytokinesis|establishment of cell polarity|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cell growth|regulation of Rho protein signal transduction|Rho protein signal transduction|striated muscle contraction cytosol|Golgi apparatus|plasma membrane G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|signal transducer activity NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(27)|ovary(4)|pancreas(2)|pleura(1)|prostate(4)|skin(7)|stomach(1)|urinary_tract(2) 81 all_hematologic(923;0.0839)|Hepatocellular(266;0.158) TAACCTTACACTCATGGTTTC 0.433000 60 49 0 0 1 0 0 ZNF560 147741 broad.mit.edu 37 19 9578448 9578448 + Missense_Mutation SNP A A G TCGA-ND-A4WF-01A-11D-A28R-08 TCGA-ND-A4WF-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272251fa-e9b3-4808-9f03-2b9c9ce7c175 3441e5ff-7295-4777-8516-a7238d9d441b g.chr19:9578448A>G ENST00000301480.4 - 10 1388 c.1175T>C c.(1174-1176)cTt>cCt p.L392P NM_152476.2 NP_689689.2 Q96MR9 ZN560_HUMAN zinc finger protein 560 392 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(16)|liver(2)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4) 65 TACATGTTCAAGAAAGCCTGA 0.428000 35 56 0 0 1 0 0 ONECUT2 9480 broad.mit.edu 37 18 55102969 55102969 + Silent SNP C C G TCGA-ND-A4WF-01A-11D-A28R-08 TCGA-ND-A4WF-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272251fa-e9b3-4808-9f03-2b9c9ce7c175 3441e5ff-7295-4777-8516-a7238d9d441b g.chr18:55102969C>G ENST00000491143.2 + 1 53 c.21C>G c.(19-21)gcC>gcG p.A7A NM_004852.2 NP_004843.2 O95948 ONEC2_HUMAN one cut homeobox 2 7 organ morphogenesis nucleus sequence-specific DNA binding breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|lung(4)|ovary(2)|skin(1) 15 Colorectal(73;0.234) READ - Rectum adenocarcinoma(59;0.227)|Colorectal(16;0.245) CCTACACCGCCTATCGATGCC 0.721000 8 20 0 0 1 0 0 USP25 29761 broad.mit.edu 37 21 17250147 17250147 + Silent SNP A A G TCGA-ND-A4WF-01A-11D-A28R-08 TCGA-ND-A4WF-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272251fa-e9b3-4808-9f03-2b9c9ce7c175 3441e5ff-7295-4777-8516-a7238d9d441b g.chr21:17250147A>G ENST00000285681.2 + 24 3297 c.2928A>G c.(2926-2928)gaA>gaG p.E976E USP25_ENST00000285679.6_Silent_p.E944E|USP25_ENST00000351097.5_Silent_p.E339E|USP25_ENST00000400183.2_Silent_p.E1014E Q9UHP3 UBP25_HUMAN ubiquitin specific peptidase 25 944 protein modification process|ubiquitin-dependent protein catabolic process cytoplasm|nucleus ubiquitin thiolesterase activity|ubiquitin-specific protease activity breast(4)|endometrium(6)|kidney(2)|large_intestine(13)|liver(5)|lung(14)|ovary(4)|prostate(1)|skin(1)|urinary_tract(2) 52 Epithelial(23;7.55e-05)|all cancers(11;0.000429)|COAD - Colon adenocarcinoma(22;0.00543)|OV - Ovarian serous cystadenocarcinoma(11;0.00743)|Colorectal(24;0.0116)|Lung(58;0.0853)|LUSC - Lung squamous cell carcinoma(23;0.0889) AACTCTTCGAATCTGGAGAGG 0.333000 8 12 0 0 1 0 0 CACNA1A 773 broad.mit.edu 37 19 13470526 13470526 + Missense_Mutation SNP C C A TCGA-ND-A4WF-01A-11D-A28R-08 TCGA-ND-A4WF-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272251fa-e9b3-4808-9f03-2b9c9ce7c175 3441e5ff-7295-4777-8516-a7238d9d441b g.chr19:13470526C>A ENST00000360228.5 - 6 871 c.872G>T c.(871-873)tGg>tTg p.W291L CACNA1A_ENST00000573710.2_Missense_Mutation_p.W291L NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2 NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2 O00555 CAC1A_HUMAN calcium channel, voltage-dependent, P/Q type, alpha 1A subunit 291 cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion cytoplasm|nucleus syntaxin binding breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1) 42 OV - Ovarian serous cystadenocarcinoma(19;5.07e-21) Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230) GGGCCCTTCCCAGTAGGGCTG 0.547000 5 4 0.00116845 0.00121296 1 1 0 GCSAML 148823 broad.mit.edu 37 1 247737614 247737614 + Missense_Mutation SNP T T G TCGA-ND-A4WF-01A-11D-A28R-08 TCGA-ND-A4WF-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272251fa-e9b3-4808-9f03-2b9c9ce7c175 3441e5ff-7295-4777-8516-a7238d9d441b g.chr1:247737614T>G ENST00000366491.2 + 7 775 c.278T>G c.(277-279)cTt>cGt p.L93R GCSAML_ENST00000366489.1_Missense_Mutation_p.L93R|GCSAML_ENST00000463359.1_Missense_Mutation_p.L81R|RP11-978I15.10_ENST00000446347.1_RNA|GCSAML_ENST00000366488.4_Missense_Mutation_p.L113R|GCSAML_ENST00000527084.1_Missense_Mutation_p.L81R|GCSAML_ENST00000536561.1_Missense_Mutation_p.L93R|GCSAML_ENST00000527541.1_Missense_Mutation_p.L81R|RP11-978I15.10_ENST00000435333.1_RNA germinal center-associated, signaling and motility-like TATGCCCTTCTTAGGACTTCT 0.448000 18 61 0 0 1 0 0 LRRIQ4 344657 broad.mit.edu 37 3 169540472 169540472 + Missense_Mutation SNP G G A TCGA-ND-A4WF-01A-11D-A28R-08 TCGA-ND-A4WF-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272251fa-e9b3-4808-9f03-2b9c9ce7c175 3441e5ff-7295-4777-8516-a7238d9d441b g.chr3:169540472G>A ENST00000340806.6 + 1 763 c.763G>A c.(763-765)Gag>Aag p.E255K NM_001080460.1 NP_001073929.1 A6NIV6 LRIQ4_HUMAN leucine-rich repeats and IQ motif containing 4 255 breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 30 GAGCTTCGCCGAGCTCAGGAA 0.607000 95 21 0 0 1 0 0 UBL4A 8266 broad.mit.edu 37 X 153714147 153714147 + Missense_Mutation SNP G G A TCGA-ND-A4WF-01A-11D-A28R-08 TCGA-ND-A4WF-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272251fa-e9b3-4808-9f03-2b9c9ce7c175 3441e5ff-7295-4777-8516-a7238d9d441b g.chrX:153714147G>A ENST00000369660.4 - 3 411 c.326C>T c.(325-327)gCg>gTg p.A109V UBL4A_ENST00000369653.4_Missense_Mutation_p.A109V|UBL4A_ENST00000477777.1_5'UTR NM_014235.3 NP_055050.1 P11441 UBL4A_HUMAN ubiquitin-like 4A 109 protein modification process|tail-anchored membrane protein insertion into ER membrane|transport BAT3 complex small conjugating protein ligase activity p.A109V(1) endometrium(5)|lung(1)|urinary_tract(1) 7 all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176) GGCATCTGCCGCACTGAAGTG 0.622000 62 111 0 0 1 0 0 UNC119 9094 broad.mit.edu 37 17 26875096 26875096 + Missense_Mutation SNP C C T TCGA-ND-A4WF-01A-11D-A28R-08 TCGA-ND-A4WF-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272251fa-e9b3-4808-9f03-2b9c9ce7c175 3441e5ff-7295-4777-8516-a7238d9d441b g.chr17:26875096C>T ENST00000484980.1 - 2 3234 c.73G>A c.(73-75)Gac>Aac p.D25N UNC119_ENST00000470125.1_Missense_Mutation_p.D25N|UNC119_ENST00000301032.4_Missense_Mutation_p.D120N|UNC119_ENST00000335765.4_Missense_Mutation_p.D120N Q13432 U119A_HUMAN unc-119 homolog (C. elegans) 120 phototransduction|synaptic transmission|visual perception cytosol|soluble fraction breast(1)|large_intestine(1)|lung(3)|prostate(1)|stomach(1) 7 Lung NSC(42;0.00431) GGGTCCAGGTCCCGCCGGTTG 0.652000 OREG0024277 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 35 2 0 0 1 0 0 TRIM5 85363 broad.mit.edu 37 11 5701143 5701143 + Missense_Mutation SNP C C T TCGA-ND-A4WF-01A-11D-A28R-08 TCGA-ND-A4WF-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272251fa-e9b3-4808-9f03-2b9c9ce7c175 3441e5ff-7295-4777-8516-a7238d9d441b g.chr11:5701143C>T ENST00000305836.5 - 2 567 c.265G>A c.(265-267)Ggg>Agg p.G89R TRIM5_ENST00000380034.3_Missense_Mutation_p.G89R|TRIM5_ENST00000380027.1_Missense_Mutation_p.G89R|TRIM5_ENST00000396847.3_Missense_Mutation_p.G89R|TRIM5_ENST00000396853.4_Missense_Mutation_p.G89R|TRIM5_ENST00000396855.3_Missense_Mutation_p.G89R Q9C035 TRIM5_HUMAN tripartite motif containing 5 89 interspecies interaction between organisms|protein trimerization|response to virus cytoplasm|cytoplasmic mRNA processing body ligase activity|protein binding|protein homodimerization activity|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 21 Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)|Lung NSC(207;0.138)|all_lung(207;0.221) Epithelial(150;7.21e-09)|BRCA - Breast invasive adenocarcinoma(625;0.139) ACTTTCTGCCCCTCTGGGCTC 0.532000 5 71 0 0 1 0 0 ZFX 7543 broad.mit.edu 37 X 24225888 24225888 + Missense_Mutation SNP G G A TCGA-ND-A4WF-01A-11D-A28R-08 TCGA-ND-A4WF-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272251fa-e9b3-4808-9f03-2b9c9ce7c175 3441e5ff-7295-4777-8516-a7238d9d441b g.chrX:24225888G>A ENST00000379177.1 + 8 1283 c.856G>A c.(856-858)Gat>Aat p.D286N ZFX_ENST00000459724.1_3'UTR|ZFX_ENST00000540034.1_Missense_Mutation_p.D325N|ZFX_ENST00000304543.5_Missense_Mutation_p.D286N|ZFX_ENST00000338565.3_Missense_Mutation_p.D236N|ZFX_ENST00000539115.1_Missense_Mutation_p.D57N|ZFX_ENST00000379188.3_Missense_Mutation_p.D286N NM_001178085.1|NM_003410.3 NP_001171556.1|NP_003401.2 P17010 ZFX_HUMAN zinc finger protein, X-linked 286 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|transcription coactivator activity|zinc ion binding cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(2)|lung(4)|ovary(2)|prostate(1) 24 TGAACTGCTTGATCAGAACAG 0.408000 28 65 0 0 1 0 0 FBN3 84467 broad.mit.edu 37 19 8206865 8206865 + Missense_Mutation SNP C C T TCGA-ND-A4WF-01A-11D-A28R-08 TCGA-ND-A4WF-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272251fa-e9b3-4808-9f03-2b9c9ce7c175 3441e5ff-7295-4777-8516-a7238d9d441b g.chr19:8206865C>T ENST00000600128.1 - 7 1112 c.698G>A c.(697-699)cGc>cAc p.R233H FBN3_ENST00000270509.2_Missense_Mutation_p.R233H|FBN3_ENST00000601739.1_Missense_Mutation_p.R233H Q75N90 FBN3_HUMAN fibrillin 3 233 TB 1. proteinaceous extracellular matrix calcium ion binding|extracellular matrix structural constituent NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 132 GAAGCCGCGGCGGCAGGGGTG 0.637000 20 51 0 0 1 0 0 PPIG 9360 broad.mit.edu 37 2 170494027 170494027 + Silent SNP C C T TCGA-ND-A4WF-01A-11D-A28R-08 TCGA-ND-A4WF-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272251fa-e9b3-4808-9f03-2b9c9ce7c175 3441e5ff-7295-4777-8516-a7238d9d441b g.chr2:170494027C>T ENST00000260970.3 + 14 2479 c.2259C>T c.(2257-2259)agC>agT p.S753S PPIG_ENST00000448752.2_Silent_p.S753S|PPIG_ENST00000409714.3_Silent_p.S738S NM_004792.2 NP_004783.2 Q13427 PPIG_HUMAN peptidylprolyl isomerase G (cyclophilin G) 753 protein folding|RNA splicing nuclear matrix|nuclear speck cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(17)|ovary(2)|stomach(1)|urinary_tract(1) 43 L-Proline(DB00172) AAGACAAAAGCGGATGAGTGA 0.313000 14 11 0 0 1 0 0 ZNF671 79891 broad.mit.edu 37 19 58234684 58234684 + Missense_Mutation SNP A A C TCGA-ND-A4WF-01A-11D-A28R-08 TCGA-ND-A4WF-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272251fa-e9b3-4808-9f03-2b9c9ce7c175 3441e5ff-7295-4777-8516-a7238d9d441b g.chr19:58234684A>C ENST00000317398.6 - 2 258 c.163T>G c.(163-165)Ttt>Gtt p.F55V ZNF671_ENST00000596939.1_Intron|ZNF671_ENST00000594803.1_5'UTR|ZNF671_ENST00000335820.3_Intron|AC003006.7_ENST00000599221.1_Intron NM_024833.2 NP_079109.2 Q8TAW3 ZN671_HUMAN zinc finger protein 671 55 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding kidney(1)|large_intestine(6)|liver(1)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 22 Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257) AAGTATACAAACACATCCTCA 0.458000 5 186 0 0 1 0 0 HEATR1 55127 broad.mit.edu 37 1 236746150 236746150 + Silent SNP T T C TCGA-ND-A4WF-01A-11D-A28R-08 TCGA-ND-A4WF-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272251fa-e9b3-4808-9f03-2b9c9ce7c175 3441e5ff-7295-4777-8516-a7238d9d441b g.chr1:236746150T>C ENST00000366582.3 - 19 2562 c.2448A>G c.(2446-2448)gaA>gaG p.E816E HEATR1_ENST00000366581.2_Silent_p.E816E NM_018072.5 NP_060542.4 Q9H583 HEAT1_HUMAN HEAT repeat containing 1 816 rRNA processing nucleolus|ribonucleoprotein complex protein binding NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(18)|lung(28)|ovary(3)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(3) 87 Ovarian(103;0.0634)|Breast(184;0.133) all_cancers(173;0.0255)|Prostate(94;0.175) OV - Ovarian serous cystadenocarcinoma(106;0.00117) CTTTCAGTTGTTCAGGATTCC 0.428000 21 66 0 0 1 0 0 CYSLTR1 0 broad.mit.edu 37 X 77528817 77528817 + Missense_Mutation SNP C C A TCGA-ND-A4WF-01A-11D-A28R-08 TCGA-ND-A4WF-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272251fa-e9b3-4808-9f03-2b9c9ce7c175 3441e5ff-7295-4777-8516-a7238d9d441b g.chrX:77528817C>A ENST00000373304.3 - 3 719 c.427G>T c.(427-429)Gtg>Ttg p.V143L NM_006639.2 NP_006630.1 Q9Y271 CLTR1_HUMAN cysteinyl leukotriene receptor 1 143 elevation of cytosolic calcium ion concentration|respiratory gaseous exchange integral to plasma membrane|membrane fraction leukotriene receptor activity endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|skin(1) 14 Amlexanox(DB01025)|Cinalukast(DB00587)|Montelukast(DB00471)|Nedocromil(DB00716)|Pranlukast(DB01411)|Zafirlukast(DB00549) CCTACACACACAAACCTGGCT 0.373000 5 13 0.184627 0.186337 1 1 0 MAGEC2 51438 broad.mit.edu 37 X 141291465 141291465 + Missense_Mutation SNP G G C TCGA-ND-A4WF-01A-11D-A28R-08 TCGA-ND-A4WF-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272251fa-e9b3-4808-9f03-2b9c9ce7c175 3441e5ff-7295-4777-8516-a7238d9d441b g.chrX:141291465G>C ENST00000247452.3 - 3 656 c.309C>G c.(307-309)tgC>tgG p.C103W NM_016249.3 NP_057333.1 Q9UBF1 MAGC2_HUMAN melanoma antigen family C, 2 103 Ser-rich. cytoplasm|nucleus NS(2)|breast(3)|endometrium(3)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(3) 47 Acute lymphoblastic leukemia(192;6.56e-05) AAGAGGAGCAGCAGGAGCTCA 0.562000 HNSCC(46;0.14) 48 28 0 0 1 0 0 UBA7 7318 broad.mit.edu 37 3 49847420 49847420 + Silent SNP G G A TCGA-ND-A4WF-01A-11D-A28R-08 TCGA-ND-A4WF-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272251fa-e9b3-4808-9f03-2b9c9ce7c175 3441e5ff-7295-4777-8516-a7238d9d441b g.chr3:49847420G>A ENST00000333486.3 - 14 1988 c.1830C>T c.(1828-1830)caC>caT p.H610H NM_003335.2 NP_003326.2 P41226 UBA7_HUMAN ubiquitin-like modifier activating enzyme 7 610 ISG15-protein conjugation|negative regulation of type I interferon production cytosol ATP binding|ISG15 activating enzyme activity|ligase activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(15)|large_intestine(4)|lung(7)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1) 33 BRCA - Breast invasive adenocarcinoma(193;3.58e-06)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607) CCTGCAGGGTGTGCTCGGCTG 0.612000 8 137 0 0 1 0 0 B4GALT7 11285 broad.mit.edu 37 5 177031297 177031297 + Silent SNP C C T TCGA-ND-A4WF-01A-11D-A28R-08 TCGA-ND-A4WF-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272251fa-e9b3-4808-9f03-2b9c9ce7c175 3441e5ff-7295-4777-8516-a7238d9d441b g.chr5:177031297C>T ENST00000029410.5 + 2 279 c.168C>T c.(166-168)gaC>gaT p.D56D NM_007255.2 NP_009186.1 Q9UBV7 B4GT7_HUMAN xylosylprotein beta 1,4-galactosyltransferase, polypeptide 7 56 fibril organization|glycosaminoglycan biosynthetic process|negative regulation of fibroblast proliferation|protein modification process|proteoglycan metabolic process Golgi cisterna membrane|integral to membrane metal ion binding|xylosylprotein 4-beta-galactosyltransferase activity endometrium(2)|large_intestine(1)|lung(1)|pancreas(1)|skin(1)|urinary_tract(1) 7 all_cancers(89;0.00033)|Renal(175;0.000269)|Lung NSC(126;0.00161)|all_lung(126;0.00286) all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) GCTCTGGGGACGTGGCCCGGG 0.682000 4 26 0 0 1 0 0 TMEM108 66000 broad.mit.edu 37 3 133099186 133099186 + Missense_Mutation SNP C C T rs145373217 byFrequency TCGA-ND-A4WF-01A-11D-A28R-08 TCGA-ND-A4WF-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272251fa-e9b3-4808-9f03-2b9c9ce7c175 3441e5ff-7295-4777-8516-a7238d9d441b g.chr3:133099186C>T ENST00000515826.1 + 3 754 c.631C>T c.(631-633)Cgg>Tgg p.R211W TMEM108_ENST00000321871.6_Missense_Mutation_p.R211W|TMEM108_ENST00000508711.1_Intron|TMEM108_ENST00000393130.3_Missense_Mutation_p.R211W Q6UXF1 TM108_HUMAN transmembrane protein 108 211 integral to membrane endometrium(3)|kidney(1)|large_intestine(5)|lung(22)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 38 GGGGCAGAAGCGGCCCCTGGG 0.592000 36 32 0 0 1 0 0 LINC00969 0 broad.mit.edu 37 3 195400728 195400728 + RNA SNP A A G rs12107841 by1000genomes TCGA-ND-A4WF-01A-11D-A28R-08 TCGA-ND-A4WF-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272251fa-e9b3-4808-9f03-2b9c9ce7c175 3441e5ff-7295-4777-8516-a7238d9d441b g.chr3:195400728A>G ENST00000445430.1 + 0 1324 GATTGTGCCCAGCCTGTACGC 0.587000 4 57 0 0 1 0 0 GOLGB1 2804 broad.mit.edu 37 3 121435639 121435639 + Silent SNP G G A TCGA-ND-A4WF-01A-11D-A28R-08 TCGA-ND-A4WF-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272251fa-e9b3-4808-9f03-2b9c9ce7c175 3441e5ff-7295-4777-8516-a7238d9d441b g.chr3:121435639G>A ENST00000393667.3 - 9 1343 c.1233C>T c.(1231-1233)ctC>ctT p.L411L GOLGB1_ENST00000340645.5_Silent_p.L406L NM_001256486.1 NP_001243415.1 Q14789 GOGB1_HUMAN golgin B1 406 Golgi organization ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane protein binding NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13) 119 GBM - Glioblastoma multiforme(114;0.0989) TCTTATCTTGGAGAAGCTTTG 0.433000 18 28 0 0 1 0 0 LRRC37A3 374819 broad.mit.edu 37 17 62892272 62892272 + Missense_Mutation SNP C C G TCGA-ND-A4WF-01A-11D-A28R-08 TCGA-ND-A4WF-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272251fa-e9b3-4808-9f03-2b9c9ce7c175 3441e5ff-7295-4777-8516-a7238d9d441b g.chr17:62892272C>G ENST00000584306.1 - 3 1634 c.1104G>C c.(1102-1104)gaG>gaC p.E368D RP11-927P21.1_ENST00000584959.1_RNA|LRRC37A3_ENST00000319651.5_Missense_Mutation_p.E368D|RP11-927P21.1_ENST00000584131.1_RNA|RP11-927P21.1_ENST00000577938.1_RNA|LRRC37A3_ENST00000339474.5_Intron|LRRC37A3_ENST00000400877.3_Intron NM_199340.2 NP_955372.2 O60309 L37A3_HUMAN leucine rich repeat containing 37, member A3 368 integral to membrane NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|liver(1)|lung(10)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 40 CCCTAGAAGACTCAGAAGGCT 0.537000 90 399 0 0 1 0 0 WDR19 57728 broad.mit.edu 37 4 39229838 39229838 + Silent SNP C C T TCGA-ND-A4WF-01A-11D-A28R-08 TCGA-ND-A4WF-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272251fa-e9b3-4808-9f03-2b9c9ce7c175 3441e5ff-7295-4777-8516-a7238d9d441b g.chr4:39229838C>T ENST00000399820.3 + 16 1792 c.1638C>T c.(1636-1638)gaC>gaT p.D546D WDR19_ENST00000288634.7_Silent_p.D386D NM_025132.3 NP_079408.3 Q8NEZ3 WDR19_HUMAN WD repeat domain 19 546 cell projection organization microtubule basal body|motile cilium|photoreceptor connecting cilium binding large_intestine(1) 1 AGGTCAATGACGCTACCTATG 0.383000 5 11 0 0 1 0 0 OR4X1 390113 broad.mit.edu 37 11 48285756 48285756 + Missense_Mutation SNP T T C TCGA-ND-A4WF-01A-11D-A28R-08 TCGA-ND-A4WF-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272251fa-e9b3-4808-9f03-2b9c9ce7c175 3441e5ff-7295-4777-8516-a7238d9d441b g.chr11:48285756T>C ENST00000320048.1 + 1 344 c.344T>C c.(343-345)gTg>gCg p.V115A NM_001004726.1 NP_001004726.1 Q8NH49 OR4X1_HUMAN olfactory receptor, family 4, subfamily X, member 1 (gene/pseudogene) 115 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|stomach(1) 28 CTCCTGATGGTGATGGCCTAT 0.517000 23 30 0 0 1 0 0 ABCC9 10060 broad.mit.edu 37 12 22040812 22040812 + Missense_Mutation SNP C C A rs139539832 TCGA-ND-A4WF-01A-11D-A28R-08 TCGA-ND-A4WF-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272251fa-e9b3-4808-9f03-2b9c9ce7c175 3441e5ff-7295-4777-8516-a7238d9d441b g.chr12:22040812C>A ENST00000261200.4 - 13 1858 c.1859G>T c.(1858-1860)cGa>cTa p.R620L ABCC9_ENST00000345162.2_Missense_Mutation_p.R620L|RP11-729I10.2_ENST00000539874.1_RNA|ABCC9_ENST00000261201.4_Missense_Mutation_p.R620L NM_020297.2 NP_064693.2 O60706 ABCC9_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 9 620 defense response to virus|potassium ion import ATP-sensitive potassium channel complex ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5) 118 Adenosine triphosphate(DB00171)|Glibenclamide(DB01016) TTCACCAGTTCGCCAACTGTC 0.383000 7 347 0.00307968 0.00316684 1 1 0 GSTCD 79807 broad.mit.edu 37 4 106638979 106638979 + Missense_Mutation SNP A A G TCGA-ND-A4WF-01A-11D-A28R-08 TCGA-ND-A4WF-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272251fa-e9b3-4808-9f03-2b9c9ce7c175 3441e5ff-7295-4777-8516-a7238d9d441b g.chr4:106638979A>G ENST00000515279.1 + 2 429 c.209A>G c.(208-210)gAt>gGt p.D70G GSTCD_ENST00000394728.3_Missense_Mutation_p.D70G|GSTCD_ENST00000394730.3_Intron|GSTCD_ENST00000360505.5_Missense_Mutation_p.D70G|GSTCD_ENST00000507281.1_Intron|GSTCD_ENST00000515255.1_Intron Q8NEC7 GSTCD_HUMAN glutathione S-transferase, C-terminal domain containing 70 cytoplasm rRNA methyltransferase activity breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(2)|ovary(1)|skin(1) 14 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;3.15e-07)|READ - Rectum adenocarcinoma(30;0.139) CTGATCCAGGATGTTGAAATA 0.383000 27 40 0 0 1 0 0 NCOA6 23054 broad.mit.edu 37 20 33345744 33345744 + Silent SNP C C T TCGA-ND-A4WF-01A-11D-A28R-08 TCGA-ND-A4WF-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272251fa-e9b3-4808-9f03-2b9c9ce7c175 3441e5ff-7295-4777-8516-a7238d9d441b g.chr20:33345744C>T ENST00000374796.2 - 8 3377 c.807G>A c.(805-807)caG>caA p.Q269Q NCOA6_ENST00000359003.2_Silent_p.Q269Q Q14686 NCOA6_HUMAN nuclear receptor coactivator 6 269 CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|TBP/GTF2A-binding region. brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter transcription factor complex chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding p.Q269Q(15) NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1) 107 gctgctgctgctgttgttgtt 0.537000 5 92 0 0 1 0 0 CNKSR2 22866 broad.mit.edu 37 X 21670532 21670532 + Missense_Mutation SNP A A G TCGA-ND-A4WF-01A-11D-A28R-08 TCGA-ND-A4WF-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272251fa-e9b3-4808-9f03-2b9c9ce7c175 3441e5ff-7295-4777-8516-a7238d9d441b g.chrX:21670532A>G ENST00000425654.2 + 21 3388 c.2908A>G c.(2908-2910)Atc>Gtc p.I970V CNKSR2_ENST00000379510.3_Missense_Mutation_p.I1000V NM_001168647.1 NP_001162118.1 Q8WXI2 CNKR2_HUMAN connector enhancer of kinase suppressor of Ras 2 1000 regulation of signal transduction cytoplasm|membrane protein binding breast(3)|endometrium(8)|kidney(2)|large_intestine(15)|lung(28)|prostate(2)|upper_aerodigestive_tract(3) 61 TTTCTTGGATATCTGTCAAAA 0.398000 40 31 0 0 1 0 0 DNAH2 146754 broad.mit.edu 37 17 7683556 7683556 + Missense_Mutation SNP T T A TCGA-ND-A4WF-01A-11D-A28R-08 TCGA-ND-A4WF-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272251fa-e9b3-4808-9f03-2b9c9ce7c175 3441e5ff-7295-4777-8516-a7238d9d441b g.chr17:7683556T>A ENST00000572933.1 + 37 7264 c.5804T>A c.(5803-5805)cTc>cAc p.L1935H DNAH2_ENST00000389173.2_Missense_Mutation_p.L1935H Q9P225 DYH2_HUMAN dynein, axonemal, heavy chain 2 1935 AAA 1 (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1) 189 all_cancers(10;4.66e-07)|Prostate(122;0.081) GACTCCACCCTCATTGCAGAA 0.453000 10 149 0 0 1 0 0 KRTAP20-2 337976 broad.mit.edu 37 21 32007616 32007616 + Missense_Mutation SNP C C T TCGA-ND-A4WF-01A-11D-A28R-08 TCGA-ND-A4WF-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272251fa-e9b3-4808-9f03-2b9c9ce7c175 3441e5ff-7295-4777-8516-a7238d9d441b g.chr21:32007616C>T ENST00000330798.2 + 1 62 c.34C>T c.(34-36)Cgt>Tgt p.R12C NM_181616.1 NP_853647.1 Q3LI61 KR202_HUMAN keratin associated protein 20-2 12 intermediate filament central_nervous_system(1)|endometrium(3)|kidney(1)|lung(2)|ovary(1) 8 TGGTGGTCTGCGTTATGGCTA 0.517000 45 55 0 0 1 0 0 PPP2R1A 5518 broad.mit.edu 37 19 52715971 52715971 + Missense_Mutation SNP C C G TCGA-ND-A4WF-01A-11D-A28R-08 TCGA-ND-A4WF-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272251fa-e9b3-4808-9f03-2b9c9ce7c175 3441e5ff-7295-4777-8516-a7238d9d441b g.chr19:52715971C>G ENST00000322088.6 + 5 594 c.536C>G c.(535-537)cCc>cGc p.P179R PPP2R1A_ENST00000444322.2_Missense_Mutation_p.P124R|PPP2R1A_ENST00000462990.1_5'UTR NM_014225.5 NP_055040.2 P30153 2AAA_HUMAN protein phosphatase 2, regulatory subunit A, alpha 179 PP2A subunit B binding.|Polyoma small and medium T antigens Binding.|SV40 small T antigen binding. ceramide metabolic process|chromosome segregation|G2/M transition of mitotic cell cycle|inactivation of MAPK activity|induction of apoptosis|negative regulation of cell growth|negative regulation of tyrosine phosphorylation of Stat3 protein|protein complex assembly|protein dephosphorylation|regulation of cell adhesion|regulation of cell differentiation|regulation of DNA replication|regulation of transcription, DNA-dependent|regulation of Wnt receptor signaling pathway|response to organic substance|RNA splicing|second-messenger-mediated signaling chromosome, centromeric region|cytosol|membrane|microtubule cytoskeleton|mitochondrion|nucleus|protein phosphatase type 2A complex|soluble fraction antigen binding|protein heterodimerization activity|protein phosphatase type 2A regulator activity p.P179R(21)|p.P179L(5) NS(1)|breast(4)|cervix(2)|endometrium(62)|kidney(1)|large_intestine(7)|lung(21)|ovary(32)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1) 135 GBM - Glioblastoma multiforme(134;0.00456)|OV - Ovarian serous cystadenocarcinoma(262;0.015) GATGACACCCCCATGGTGCGG 0.612000 Mis clear cell ovarian carcinoma 31 42 0 0 1 0 0 SEC23A 10484 broad.mit.edu 37 14 39556161 39556161 + Nonsense_Mutation SNP G G A TCGA-ND-A4WF-01A-11D-A28R-08 TCGA-ND-A4WF-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272251fa-e9b3-4808-9f03-2b9c9ce7c175 3441e5ff-7295-4777-8516-a7238d9d441b g.chr14:39556161G>A ENST00000537403.1 - 2 1251 c.49C>T c.(49-51)Cag>Tag p.Q17* SEC23A_ENST00000307712.6_Nonsense_Mutation_p.Q219*|SEC23A_ENST00000545328.2_Nonsense_Mutation_p.Q190*|SEC23A_ENST00000536508.1_Nonsense_Mutation_p.Q93* Q15436 SC23A_HUMAN Sec23 homolog A (S. cerevisiae) 219 COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine COPII vesicle coat|cytosol|Golgi membrane|smooth endoplasmic reticulum membrane protein binding|zinc ion binding kidney(2)|large_intestine(3)|liver(1)|lung(11)|ovary(4)|pancreas(1)|upper_aerodigestive_tract(1) 23 Hepatocellular(127;0.213) Lung(238;0.00047)|LUAD - Lung adenocarcinoma(48;0.000565) GBM - Glioblastoma multiforme(112;0.0151) TGCTGTACCTGAGGACCACGT 0.383000 24 9 0 0 1 0 0 DIAPH2 1730 broad.mit.edu 37 X 95940099 95940099 + Silent SNP C C A TCGA-ND-A4WF-01A-11D-A28R-08 TCGA-ND-A4WF-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272251fa-e9b3-4808-9f03-2b9c9ce7c175 3441e5ff-7295-4777-8516-a7238d9d441b g.chrX:95940099C>A ENST00000324765.8 + 1 389 c.42C>A c.(40-42)ggC>ggA p.G14G DIAPH2_ENST00000373054.4_Silent_p.G14G|DIAPH2_ENST00000373061.3_Silent_p.G14G|DIAPH2_ENST00000355827.4_Silent_p.G14G|DIAPH2_ENST00000373049.4_Silent_p.G14G O60879 DIAP2_HUMAN diaphanous-related formin 2 14 cell differentiation|cytokinesis|multicellular organismal development|oogenesis cytosol|early endosome|Golgi apparatus|mitochondrion|nucleolus receptor binding|Rho GTPase binding breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 51 CGGGAGGCGGCAGCGAGGAAC 0.647000 5 11 0.000602214 0.000631167 1 1 0 ZFAT 57623 broad.mit.edu 37 8 135545196 135545196 + Missense_Mutation SNP C C T TCGA-ND-A4WF-01A-11D-A28R-08 TCGA-ND-A4WF-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272251fa-e9b3-4808-9f03-2b9c9ce7c175 3441e5ff-7295-4777-8516-a7238d9d441b g.chr8:135545196C>T ENST00000520727.1 - 13 3259 c.2960G>A c.(2959-2961)tGc>tAc p.C987Y ZFAT_ENST00000517307.1_5'UTR|ZFAT_ENST00000429442.2_Missense_Mutation_p.C987Y|ZFAT_ENST00000520214.1_Missense_Mutation_p.C987Y|ZFAT_ENST00000523399.1_Missense_Mutation_p.C937Y|ZFAT_ENST00000520356.1_Missense_Mutation_p.C987Y|ZFAT_ENST00000377838.3_Missense_Mutation_p.C999Y NM_001029939.3 NP_001025110.2 Q9P243 ZFAT_HUMAN zinc finger and AT hook domain containing 999 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytosol|nucleus DNA binding|zinc ion binding autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(9)|large_intestine(8)|lung(16)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 54 all_epithelial(106;8.26e-19)|Lung NSC(106;3.47e-07)|all_lung(105;1.39e-06)|Ovarian(258;0.0102)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0432) GGAGTAATGGCAATGGGCACA 0.587000 16 14 0 0 1 0 0 MCM7 4176 broad.mit.edu 37 7 99696771 99696771 + Missense_Mutation SNP G G A rs150260409 TCGA-ND-A4WF-01A-11D-A28R-08 TCGA-ND-A4WF-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272251fa-e9b3-4808-9f03-2b9c9ce7c175 3441e5ff-7295-4777-8516-a7238d9d441b g.chr7:99696771G>A ENST00000303887.5 - 5 1102 c.457C>T c.(457-459)Cgg>Tgg p.R153W MCM7_ENST00000354230.3_5'UTR|MCM7_ENST00000343023.6_Missense_Mutation_p.R153W NM_005916.3 NP_005907.3 P33993 MCM7_HUMAN minichromosome maintenance complex component 7 153 cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|regulation of phosphorylation|response to DNA damage stimulus|S phase of mitotic cell cycle chromatin|MCM complex ATP binding|protein binding endometrium(1)|kidney(5)|large_intestine(5)|lung(4)|ovary(1)|stomach(1) 17 Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439) Atorvastatin(DB01076) GAGTCAGCCCGCACTTCCCGG 0.512000 8 158 0 0 1 0 0 LIPH 200879 broad.mit.edu 37 3 185252705 185252705 + Missense_Mutation SNP C C T TCGA-ND-A4WF-01A-11D-A28R-08 TCGA-ND-A4WF-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272251fa-e9b3-4808-9f03-2b9c9ce7c175 3441e5ff-7295-4777-8516-a7238d9d441b g.chr3:185252705C>T ENST00000296252.4 - 2 406 c.265G>A c.(265-267)Gat>Aat p.D89N LIPH_ENST00000424591.2_Missense_Mutation_p.D89N NM_139248.2 NP_640341.1 Q8WWY8 LIPH_HUMAN lipase, member H 89 lipid catabolic process extracellular space|plasma membrane heparin binding|phospholipase activity breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|skin(2) 20 all_cancers(143;8.87e-11)|Ovarian(172;0.0386) OV - Ovarian serous cystadenocarcinoma(80;1.31e-21) ACTAAGTCATCCATCCAAACA 0.438000 153 45 0 0 1 0 0 HMGN2 3151 broad.mit.edu 37 1 26799107 26799107 + Frame_Shift_Del DEL C C - TCGA-ND-A4WF-01A-11D-A28R-08 TCGA-ND-A4WF-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272251fa-e9b3-4808-9f03-2b9c9ce7c175 3441e5ff-7295-4777-8516-a7238d9d441b g.chr1:26799107delC ENST00000361427.5 + 1 98 c.4delC c.(4-6)ccfs p.P2fs NM_005517.3 NP_005508.1 P05204 HMGN2_HUMAN high mobility group nucleosomal binding domain 2 2 chromatin organization|regulation of transcription, DNA-dependent chromatin|cytoplasm|nucleus DNA binding|protein binding breast(1)|lung(2) 3 all_cancers(24;1.9e-24)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00637)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;3.38e-49)|OV - Ovarian serous cystadenocarcinoma(117;5.38e-28)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|BRCA - Breast invasive adenocarcinoma(304;0.000946)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.026)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.153)|LUSC - Lung squamous cell carcinoma(448;0.227) CGCCACCATGCCCAAGAGAAA 0.741 2 4 --- --- --- --- TRBV29-1 0 broad.mit.edu 37 7 142448089 142448090 + RNA INS - - T TCGA-ND-A4WF-01A-11D-A28R-08 TCGA-ND-A4WF-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272251fa-e9b3-4808-9f03-2b9c9ce7c175 3441e5ff-7295-4777-8516-a7238d9d441b g.chr7:142448089_142448090insT ENST00000422143.2 + 0 37_38 TTCTTAGTGCCTTTTCTCAGGG 0.475 2 4 --- --- --- --- PNLIPRP2 5408 broad.mit.edu 37 10 118383815 118383816 + RNA INS - - CA rs144051797 by1000genomes TCGA-ND-A4WF-01A-11D-A28R-08 TCGA-ND-A4WF-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272251fa-e9b3-4808-9f03-2b9c9ce7c175 3441e5ff-7295-4777-8516-a7238d9d441b g.chr10:118383815_118383816insCA ENST00000537242.1 + 0 230 PNLIPRP2_ENST00000433618.4_RNA|PNLIPRP2_ENST00000298771.7_RNA NM_005396.4 NP_005387.2 P54317 LIPR2_HUMAN pancreatic lipase-related protein 2 galactolipid catabolic process|lipid digestion|phospholipid catabolic process|triglyceride metabolic process extracellular space acylglycerol lipase activity|calcium ion binding|galactolipase activity|phospholipase activity|triglyceride lipase activity endometrium(1)|large_intestine(1)|lung(11)|prostate(3) 16 all cancers(201;0.015) acttacacattcacacacactg 0.485 3 4 --- --- --- --- HNRNPC 3183 broad.mit.edu 37 14 21679709 21679711 + In_Frame_Del DEL ATC ATC - TCGA-ND-A4WF-01A-11D-A28R-08 TCGA-ND-A4WF-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272251fa-e9b3-4808-9f03-2b9c9ce7c175 3441e5ff-7295-4777-8516-a7238d9d441b g.chr14:21679709_21679711delATC ENST00000430246.2 - 7 3603_3605 c.652_654delGAT c.(652-654)del p.D218del HNRNPC_ENST00000556513.1_Intron|HNRNPC_ENST00000557201.1_In_Frame_Del_p.D231del|HNRNPC_ENST00000553753.1_In_Frame_Del_p.D218del|HNRNPC_ENST00000556897.1_In_Frame_Del_p.D218del|HNRNPC_ENST00000556628.1_In_Frame_Del_p.D151del|HNRNPC_ENST00000420743.2_In_Frame_Del_p.D231del|HNRNPC_ENST00000556142.1_Intron|HNRNPC_ENST00000555883.1_In_Frame_Del_p.D175del|HNRNPC_ENST00000555914.1_In_Frame_Del_p.D217del|HNRNPC_ENST00000555309.1_In_Frame_Del_p.D230del|HNRNPC_ENST00000554455.1_In_Frame_Del_p.D231del|HNRNPC_ENST00000554969.1_In_Frame_Del_p.D218del|HNRNPC_ENST00000320084.7_In_Frame_Del_p.D231del|HNRNPC_ENST00000336053.6_In_Frame_Del_p.D218del|HNRNPC_ENST00000553300.1_In_Frame_Del_p.D218del|HNRNPC_ENST00000449098.1_In_Frame_Del_p.D218del P07910 HNRPC_HUMAN heterogeneous nuclear ribonucleoprotein C (C1/C2) 231 Asp/Glu-rich (acidic). catalytic step 2 spliceosome|nucleoplasm identical protein binding|nucleotide binding|RNA binding breast(1)|liver(1)|lung(6)|skin(1) 9 all_cancers(95;0.00176) Epithelial(56;1.08e-06)|all cancers(55;8.95e-06) GBM - Glioblastoma multiforme(265;0.00783) CTTCTGACTTATCATTCTTCATC 0.512 7 13 --- --- --- --- PPP1R37 284352 broad.mit.edu 37 19 45648903 45648903 + Frame_Shift_Del DEL C C - TCGA-ND-A4WF-01A-11D-A28R-08 TCGA-ND-A4WF-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272251fa-e9b3-4808-9f03-2b9c9ce7c175 3441e5ff-7295-4777-8516-a7238d9d441b g.chr19:45648903delC ENST00000221462.4 + 11 1953 c.1589delC c.(1588-1590)gcfs p.A530fs PPP1R37_ENST00000421905.1_Frame_Shift_Del_p.A526fs NM_019121.1 NP_061994.1 B5MDA4 B5MDA4_HUMAN protein phosphatase 1, regulatory subunit 37 530 CCCTGTCCTGCCCTGGTGCCC 0.706 2 4 --- --- --- ---