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 validation_method t_ref_count validation_status validation_tumor_sample t_alt_count validation_alt_allele pox qox pox_cutoff isArtifactMode oxoGCut BRD1 23774 broad.mit.edu 37 22 50167966 50167966 + Missense_Mutation SNP G A A TCGA-FS-A1YW-06A-11D-A197-08 TCGA-FS-A1YW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ede8a2a-405e-4689-967b-627bff0f1496 781d7787-9f92-4774-ac27-6c679bbd3387 g.chr22:50167966G>A uc011arg.2 - 12 3253 c.3239C>T c.(3238-3240)gCc>gTc p.A1080V BRD1_uc011arf.2_Missense_Mutation_p.A757V|BRD1_uc021wrv.1_Non-coding_Transcript|BRD1_uc003biv.3_Missense_Mutation_p.A1031V|BRD1_uc021wrw.1_Non-coding_Transcript|BRD1_uc003biu.4_Missense_Mutation_p.A1162V NM_014577 NP_055392 O95696 BRD1_HUMAN Homo sapiens bromodomain containing 1 (BRD1), mRNA. 1031 histone H3 acetylation MOZ/MORF histone acetyltransferase complex zinc ion binding endometrium(6)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|skin(1) 37 all_cancers(38;6.11e-10)|all_epithelial(38;8.06e-09)|all_lung(38;6.64e-05)|Lung NSC(38;0.0011)|Breast(42;0.00235)|Ovarian(80;0.0139)|Lung SC(80;0.164) UCEC - Uterine corpus endometrioid carcinoma (28;0.0369)|BRCA - Breast invasive adenocarcinoma(115;0.21) GATCCGCACGGCCTTCCGGAT 0.572000 26 64 0 0 0.014410 0 0 CDC14A 8556 broad.mit.edu 37 1 100949997 100949997 + Missense_Mutation SNP G A A TCGA-FS-A1YW-06A-11D-A197-08 TCGA-FS-A1YW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ede8a2a-405e-4689-967b-627bff0f1496 781d7787-9f92-4774-ac27-6c679bbd3387 g.chr1:100949997G>A uc001dtf.2 + 10 1615 c.1127G>A c.(1126-1128)cGa>cAa p.R376Q CDC14A_uc009web.2_Non-coding_Transcript|CDC14A_uc010oui.1_Missense_Mutation_p.R318Q|CDC14A_uc001dte.4_Missense_Mutation_p.R376Q|CDC14A_uc009wed.1_Missense_Mutation_p.R83Q|CDC14A_uc001dtg.4_Missense_Mutation_p.R376Q|CDC14A_uc009wee.3_Missense_Mutation_p.R376Q NM_033312 NP_201569 Q9UNH5 CC14A_HUMAN Homo sapiens CDC14 cell division cycle 14 homolog A (S. cerevisiae) (CDC14A), transcript variant 2, mRNA. 376 cell cycle|cell division|cell proliferation centrosome|nucleus|spindle protein binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity p.R376Q(2) breast(1)|endometrium(5)|kidney(6)|large_intestine(6)|lung(10)|skin(2)|urinary_tract(1) 31 all_epithelial(167;3.71e-06)|all_lung(203;0.00097)|Lung NSC(277;0.001) Epithelial(280;0.0676)|all cancers(265;0.127)|COAD - Colon adenocarcinoma(174;0.201)|Lung(183;0.227)|Colorectal(144;0.241) AACATGGAACGATTTGGAGAG 0.343000 31 18 0 0 0.007413 0 0 CDKN2A 1029 broad.mit.edu 37 9 21971096 21971096 + Nonsense_Mutation SNP C A A rs121913384 TCGA-FS-A1YW-06A-11D-A197-08 TCGA-FS-A1YW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ede8a2a-405e-4689-967b-627bff0f1496 781d7787-9f92-4774-ac27-6c679bbd3387 g.chr9:21971096C>A uc003zpk.3 - 1 568 c.262G>T c.(262-264)Gag>Tag p.E88* MTAP_uc003zpi.1_Intron|CDKN2A_uc003zpj.3_3'UTR|CDKN2A_uc010miu.3_Nonsense_Mutation_p.E88*|CDKN2A_uc003zpl.3_Missense_Mutation_p.G102V NM_000077 NP_000068 P42771 CD2A1_HUMAN Homo sapiens cyclin-dependent kinase inhibitor 2A (melanoma, p16, inhibits CDK4) (CDKN2A), transcript variant 1, mRNA. 88 E -> D (in a biliary tract tumor). G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|Ras protein signal transduction|cell cycle arrest|cell cycle checkpoint|induction of apoptosis|negative regulation of NF-kappaB transcription factor activity|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|replicative senescence cytosol|nucleus NF-kappaB binding|cyclin-dependent protein kinase inhibitor activity|protein binding|protein kinase binding p.0?(1315)|p.?(44)|p.E88*(30)|p.E88E(6)|p.E88K(6)|p.V82_G89>G(2)|p.E88D(2)|p.V82_E88del(2)|p.D84_F90del(2)|p.E87K(2)|p.E61_L94del(2)|p.H83fs*2(2)|p.G143V(1)|p.R87fs*59(1)|p.E88A(1)|p.E88G(1)|p.A68fs*3(1)|p.E88V(1)|p.0(1)|p.R137fs*48(1)|p.R87L(1)|p.R87Q(1)|p.R87W(1)|p.R87fs(1) NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2) 4199 all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172) all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05) AGGAAGCCCTCCCGGGCAGCG 0.756000 E88*(CAL33_UPPER_AERODIGESTIVE_TRACT) 17 HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07) 35 92 5.0909e-33 7.16497e-33 0.014410 1 0 CACNA1E 777 broad.mit.edu 37 1 181765865 181765865 + Silent SNP G A A TCGA-FS-A1YW-06A-11D-A197-08 TCGA-FS-A1YW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ede8a2a-405e-4689-967b-627bff0f1496 781d7787-9f92-4774-ac27-6c679bbd3387 g.chr1:181765865G>A uc009wxt.3 + 46 6465 c.6270G>A c.(6268-6270)aaG>aaA p.K2090K CACNA1E_uc001gow.3_Silent_p.K2047K|CACNA1E_uc009wxs.3_Silent_p.K2028K NM_001205293 NP_001192222 Q15878 CAC1E_HUMAN Homo sapiens calcium channel, voltage-dependent, R type, alpha 1E subunit (CACNA1E), transcript variant 1, mRNA. 2090 energy reserve metabolic process|membrane depolarization|synaptic transmission voltage-gated calcium channel complex voltage-gated calcium channel activity NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 204 AAGAGCGAAAGCATCTTCTCT 0.572000 16 16 0 0 0.004990 0 0 D28359 0 broad.mit.edu 37 13 52035102 52035102 + RNA SNP C T T TCGA-FS-A1YW-06A-11D-A197-08 TCGA-FS-A1YW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ede8a2a-405e-4689-967b-627bff0f1496 781d7787-9f92-4774-ac27-6c679bbd3387 g.chr13:52035102C>T uc001vfo.1 + 0 c.2007C>T Homo sapiens cDNA FLJ34612 fis, clone KIDNE2014170, highly similar to 40S RIBOSOMAL PROTEIN S4, X ISOFORM. GTCGCACCATCCGCTACACTG 0.438000 19 5 0 0 0.014758 0 0 AK7 122481 broad.mit.edu 37 14 96949519 96949519 + Missense_Mutation SNP T A A TCGA-FS-A1YW-06A-11D-A197-08 TCGA-FS-A1YW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ede8a2a-405e-4689-967b-627bff0f1496 781d7787-9f92-4774-ac27-6c679bbd3387 g.chr14:96949519T>A uc001yfn.2 + 15 1981 c.1937T>A c.(1936-1938)gTg>gAg p.V646E NM_152327 NP_689540 Q96M32 KAD7_HUMAN Homo sapiens adenylate kinase 7 (AK7), mRNA. 646 Glu-rich. cell projection organization cytosol ATP binding|adenylate kinase activity|cytidylate kinase activity breast(2)|cervix(2)|endometrium(3)|large_intestine(8)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1) 31 all_cancers(154;0.0482)|all_epithelial(191;0.128)|Melanoma(154;0.155) Epithelial(152;0.134)|COAD - Colon adenocarcinoma(157;0.228) CAGGAGGCCGTGGAGATGGCA 0.592000 14 6 0 0 0.021553 0 0 MEGF8 1954 broad.mit.edu 37 19 42880268 42880268 + Missense_Mutation SNP G A A TCGA-FS-A1YW-06A-11D-A197-08 TCGA-FS-A1YW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ede8a2a-405e-4689-967b-627bff0f1496 781d7787-9f92-4774-ac27-6c679bbd3387 g.chr19:42880268G>A uc002otl.4 + 40 8313 c.7678G>A c.(7678-7680)Gcc>Acc p.A2560T MEGF8_uc002otm.4_Missense_Mutation_p.A2168T|MEGF8_uc002otn.4_Missense_Mutation_p.A221T NM_001410 NP_001401 Q7Z7M0 MEGF8_HUMAN Homo sapiens multiple EGF-like-domains 8 (MEGF8), mRNA. 2627 Pro-rich. integral to membrane calcium ion binding|structural molecule activity breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 50 Prostate(69;0.00682) TGGGCCCGGCGCCAACGGCTC 0.627000 21 11 0 0 0.008291 0 0 OR51B2 79345 broad.mit.edu 37 11 5345040 5345040 + Missense_Mutation SNP G A A TCGA-FS-A1YW-06A-11D-A197-08 TCGA-FS-A1YW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ede8a2a-405e-4689-967b-627bff0f1496 781d7787-9f92-4774-ac27-6c679bbd3387 g.chr11:5345040G>A uc001mao.1 - 0 543 c.488C>T c.(487-489)tCa>tTa p.S163L HBG1_uc001mak.1_Intron|HBE1_uc001mam.1_Intron NM_033180 NP_149420 Q9Y5P1 O51B2_HUMAN Homo sapiens olfactory receptor, family 51, subfamily B, member 2 (OR51B2), mRNA. 163 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|biliary_tract(1)|central_nervous_system(1)|large_intestine(6)|lung(21)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 35 Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212) Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) ATATGAAAATGAAAAAAGACG 0.398000 27 27 0 0 0.027356 0 0 LPO 4025 broad.mit.edu 37 17 56342209 56342209 + Missense_Mutation SNP C T T TCGA-FS-A1YW-06A-11D-A197-08 TCGA-FS-A1YW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ede8a2a-405e-4689-967b-627bff0f1496 781d7787-9f92-4774-ac27-6c679bbd3387 g.chr17:56342209C>T uc002ivt.3 + 9 1709 c.1393C>T c.(1393-1395)Cgc>Tgc p.R465C LPO_uc010wns.2_Missense_Mutation_p.R406C|LPO_uc010dcp.3_Missense_Mutation_p.R382C|LPO_uc010dcq.3_Missense_Mutation_p.R136C|LPO_uc010dcr.3_Missense_Mutation_p.R28C NM_006151 NP_006142 P22079 PERL_HUMAN Homo sapiens lactoperoxidase (LPO), transcript variant 1, mRNA. 465 hydrogen peroxide catabolic process extracellular space heme binding|peroxidase activity p.R465H(1) breast(5)|cervix(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1) 30 CTTCGCCTTCCGCTTTGGCCA 0.517000 56 22 0 0 0.010504 0 0 ATP6V0A4 50617 broad.mit.edu 37 7 138432306 138432306 + Missense_Mutation SNP G A A TCGA-FS-A1YW-06A-11D-A197-08 TCGA-FS-A1YW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ede8a2a-405e-4689-967b-627bff0f1496 781d7787-9f92-4774-ac27-6c679bbd3387 g.chr7:138432306G>A uc003vuf.3 - 11 1422 c.1184C>T c.(1183-1185)cCc>cTc p.P395L ATP6V0A4_uc003vug.3_Missense_Mutation_p.P395L|ATP6V0A4_uc003vuh.3_Missense_Mutation_p.P395L NM_130841 NP_570856 Q9HBG4 VPP4_HUMAN Homo sapiens ATPase, H+ transporting, lysosomal V0 subunit a4 (ATP6V0A4), transcript variant 3, mRNA. 395 cellular iron ion homeostasis|excretion|insulin receptor signaling pathway|ossification|regulation of pH|sensory perception of sound|transferrin transport apical plasma membrane|brush border membrane|endosome membrane|integral to membrane|proton-transporting two-sector ATPase complex, proton-transporting domain ATPase binding|hydrogen ion transmembrane transporter activity NS(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 36 GATGGTGTAGGGGGCTGCGGA 0.577000 20 13 0 0 0.016723 0 0 POM121L12 285877 broad.mit.edu 37 7 53103886 53103886 + Silent SNP C T T TCGA-FS-A1YW-06A-11D-A197-08 TCGA-FS-A1YW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ede8a2a-405e-4689-967b-627bff0f1496 781d7787-9f92-4774-ac27-6c679bbd3387 g.chr7:53103886C>T uc003tpz.3 + 0 538 c.522C>T c.(520-522)acC>acT p.T174T NM_182595 NP_872401 Q8N7R1 P1L12_HUMAN Homo sapiens POM121 membrane glycoprotein-like 12 (POM121L12), mRNA. 174 endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 61 ACCCCTGCACCCGGGAGACTC 0.716000 26 14 0 0 0.024245 0 0 UPF1 5976 broad.mit.edu 37 19 18968188 18968188 + Silent SNP C T T TCGA-FS-A1YW-06A-11D-A197-08 TCGA-FS-A1YW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ede8a2a-405e-4689-967b-627bff0f1496 781d7787-9f92-4774-ac27-6c679bbd3387 g.chr19:18968188C>T uc002nkg.3 + 14 2336 c.2061C>T c.(2059-2061)gcC>gcT p.A687A UPF1_uc002nkf.3_Silent_p.A676A|UPF1_uc002nkh.3_5'Flank NM_002911 NP_002902 Q92900 RENT1_HUMAN Homo sapiens UPF1 regulator of nonsense transcripts homolog (yeast) (UPF1), mRNA. 687 DNA repair|DNA replication|cell cycle|histone mRNA catabolic process|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translational termination chromatin|cytoplasmic mRNA processing body|exon-exon junction complex ATP binding|ATP-dependent RNA helicase activity|DNA binding|RNA binding|chromatin binding|protein binding|zinc ion binding breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 40 AGAAGGCGGCCAAGGCCGGGC 0.647000 44 28 0 0 0.010818 0 0 NRAS 4893 broad.mit.edu 37 1 115256530 115256530 + Missense_Mutation SNP G T T rs121913254 TCGA-FS-A1YW-06A-11D-A197-08 TCGA-FS-A1YW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ede8a2a-405e-4689-967b-627bff0f1496 781d7787-9f92-4774-ac27-6c679bbd3387 g.chr1:115256530G>T uc009wgu.3 - 2 435 c.181C>A c.(181-183)Caa>Aaa p.Q61K NM_002524 NP_002515 P01111 RASN_HUMAN Homo sapiens neuroblastoma RAS viral (v-ras) oncogene homolog (NRAS), mRNA. 61 Q -> K (in neuroblastoma cell).|Q -> R (in lung carcinoma cell and melanoma; dbSNP:rs11554290). Ras protein signal transduction|activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway Golgi membrane|plasma membrane GTP binding|GTPase activity p.Q61K(1229)|p.Q61R(898)|p.Q61L(198)|p.Q61H(123)|p.Q61P(23)|p.Q61E(18)|p.G60E(6)|p.Q61?(5)|p.Q61Q(3)|p.G60>?(2)|p.G60R(1)|p.Q61*(1)|p.Q61_E62>HK(1) NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13) 3085 all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211) all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133) TACTCTTCTTGTCCAGCTGTA 0.458000 Q61K(CHP212_AUTONOMIC_GANGLIA)|Q61K(HCC15_LUNG)|Q61K(HS936T_SKIN)|Q61K(HS944T_SKIN)|Q61K(HT1080_SOFT_TISSUE)|Q61K(HUT78_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61K(M07E_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61K(NCIH1299_LUNG)|Q61K(NCIH2087_LUNG)|Q61K(OCILY19_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61K(SKNAS_AUTONOMIC_GANGLIA)|Q61K(SKNSH_AUTONOMIC_GANGLIA)|Q61K(TYKNU_OVARY) 50 Mis """melanoma, MM, AML, thyroid""" Noonan syndrome TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6) 90 72 9.35569e-46 1.32765e-45 0.014410 1 0 ZNF239 8187 broad.mit.edu 37 10 44052772 44052772 + Silent SNP G A A TCGA-FS-A1YW-06A-11D-A197-08 TCGA-FS-A1YW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ede8a2a-405e-4689-967b-627bff0f1496 781d7787-9f92-4774-ac27-6c679bbd3387 g.chr10:44052772G>A uc001jaw.4 - 1 1409 c.756C>T c.(754-756)atC>atT p.I252I ZNF239_uc001jax.4_Silent_p.I252I|ZNF239_uc009xmj.3_Silent_p.I252I|ZNF239_uc009xmk.3_Silent_p.I252I|ZNF239_uc021pph.1_Silent_p.I252I NM_005674 NP_005665 Q16600 ZN239_HUMAN Homo sapiens zinc finger protein 239 (ZNF239), transcript variant 1, mRNA. 252 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|RNA binding|zinc ion binding endometrium(5)|large_intestine(5)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 20 CTGCCTGATGGATAAGCAGAC 0.493000 89 48 0 0 0.014410 0 0 SLIT2 9353 broad.mit.edu 37 4 20599960 20599960 + Missense_Mutation SNP C T T TCGA-FS-A1YW-06A-11D-A197-08 TCGA-FS-A1YW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ede8a2a-405e-4689-967b-627bff0f1496 781d7787-9f92-4774-ac27-6c679bbd3387 g.chr4:20599960C>T uc003gpr.1 + 32 3838 c.3634C>T c.(3634-3636)Cgg>Tgg p.R1212W SLIT2_uc003gps.1_Missense_Mutation_p.R1204W NM_004787 NP_004778 O94813 SLIT2_HUMAN Homo sapiens slit homolog 2 (Drosophila) (SLIT2), mRNA. 1212 Laminin G-like. Roundabout signaling pathway|apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|ureteric bud development cell surface|cytoplasm|extracellular space|plasma membrane GTPase inhibitor activity|Roundabout binding|calcium ion binding|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1) 116 AGAACTCTATCGGGGGCGTGT 0.473000 81 52 0 0 0.014410 0 0 RPL7 6129 broad.mit.edu 37 8 74203428 74203428 + Missense_Mutation SNP G A A TCGA-FS-A1YW-06A-11D-A197-08 TCGA-FS-A1YW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ede8a2a-405e-4689-967b-627bff0f1496 781d7787-9f92-4774-ac27-6c679bbd3387 g.chr8:74203428G>A uc003xzg.3 - 5 620 c.598C>T c.(598-600)Cgc>Tgc p.R200C NM_000971 NP_000962 P18124 RL7_HUMAN Homo sapiens ribosomal protein L7 (RPL7), mRNA. 200 endocrine pancreas development|rRNA processing|ribosomal large subunit biogenesis|translational elongation|translational termination|viral transcription cytosolic large ribosomal subunit DNA binding|mRNA binding|protein homodimerization activity|structural constituent of ribosome breast(1)|kidney(1)|large_intestine(2)|lung(1) 5 Breast(64;0.0954) Epithelial(68;0.0193)|all cancers(69;0.0766)|BRCA - Breast invasive adenocarcinoma(89;0.134) TCTTTGAAGCGTTTTCCAACA 0.373000 22 11 0 0 0.010729 0 0 ZNF28 7576 broad.mit.edu 37 19 53303978 53303978 + Missense_Mutation SNP G A A TCGA-FS-A1YW-06A-11D-A197-08 TCGA-FS-A1YW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ede8a2a-405e-4689-967b-627bff0f1496 781d7787-9f92-4774-ac27-6c679bbd3387 g.chr19:53303978G>A uc002qad.3 - 3 1277 c.1120C>T c.(1120-1122)Cgt>Tgt p.R374C ZNF28_uc002qac.3_Missense_Mutation_p.R320C|ZNF28_uc010eqe.3_Missense_Mutation_p.R320C|ZNF28_uc021uza.1_Missense_Mutation_p.R321C NM_006969 NP_008900 P17035 ZNF28_HUMAN Homo sapiens zinc finger protein 28 (ZNF28), transcript variant 1, mRNA. 374 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|liver(1)|lung(10)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 34 GBM - Glioblastoma multiforme(134;0.0386)|Lung(386;0.145) TGAAGCCTACGATGGCGTGCA 0.383000 40 38 0 0 0.017118 0 0 WBSCR17 64409 broad.mit.edu 37 7 71175806 71175806 + Missense_Mutation SNP C T T TCGA-FS-A1YW-06A-11D-A197-08 TCGA-FS-A1YW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ede8a2a-405e-4689-967b-627bff0f1496 781d7787-9f92-4774-ac27-6c679bbd3387 g.chr7:71175806C>T uc003tvy.3 + 9 1561 c.1561C>T c.(1561-1563)Ctc>Ttc p.L521F WBSCR17_uc003tvz.3_Missense_Mutation_p.L220F NM_022479 NP_071924 Q6IS24 GLTL3_HUMAN Homo sapiens Williams-Beuren syndrome chromosome region 17 (WBSCR17), mRNA. 521 Ricin B-type lectin. Golgi membrane|integral to membrane polypeptide N-acetylgalactosaminyltransferase activity|sugar binding NS(5)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(7)|large_intestine(22)|lung(45)|ovary(2)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2) 100 all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125) CACCACACTCCTCCCTGACAC 0.617000 55 28 0 0 0.006320 0 0 HNF1B 6928 broad.mit.edu 37 17 36064997 36064997 + Silent SNP G A A TCGA-FS-A1YW-06A-11D-A197-08 TCGA-FS-A1YW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ede8a2a-405e-4689-967b-627bff0f1496 781d7787-9f92-4774-ac27-6c679bbd3387 g.chr17:36064997G>A uc002hok.4 - 5 1487 c.1266C>T c.(1264-1266)ctC>ctT p.L422L HNF1B_uc021tvu.1_Silent_p.L192L|HNF1B_uc010wdi.2_Silent_p.L396L|HNF1B_uc021tvv.1_Silent_p.L422L|HNF1B_uc021tvw.1_Silent_p.L396L NM_000458 NP_000449 P35680 HNF1B_HUMAN Homo sapiens HNF1 homeobox B (HNF1B), transcript variant 1, mRNA. 422 endocrine pancreas development|genitalia development|kidney development|positive regulation of transcription initiation from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|pronephric nephron tubule development|regulation of pronephros size nucleus DNA binding|protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(2)|central_nervous_system(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(6)|kidney(3)|large_intestine(2)|liver(1)|lung(3)|ovary(3)|prostate(1)|skin(2) 28 Breast(25;0.00765)|Ovarian(249;0.15) STAD - Stomach adenocarcinoma(1;0.0142) TATGGTGGGAGAGGCTGTGGA 0.468000 254 169 0 0 0.014410 0 0 PCDHB11 56125 broad.mit.edu 37 5 140579467 140579467 + Silent SNP G A A TCGA-FS-A1YW-06A-11D-A197-08 TCGA-FS-A1YW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ede8a2a-405e-4689-967b-627bff0f1496 781d7787-9f92-4774-ac27-6c679bbd3387 g.chr5:140579467G>A uc003liy.3 + 0 120 c.120G>A c.(118-120)caG>caA p.Q40Q NM_018931 NP_061754 Q9Y5F2 PCDBB_HUMAN Homo sapiens protocadherin beta 11 (PCDHB11), mRNA. 40 Cadherin 1. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to plasma membrane calcium ion binding p.M39V(1) NS(2)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1) 63 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) AAGAAATGCAGAGCGGGAGTT 0.527000 64 35 0 0 0.015359 0 0 OR6B3 150681 broad.mit.edu 37 2 240984604 240984604 + Missense_Mutation SNP C T T TCGA-FS-A1YW-06A-11D-A197-08 TCGA-FS-A1YW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ede8a2a-405e-4689-967b-627bff0f1496 781d7787-9f92-4774-ac27-6c679bbd3387 g.chr2:240984604C>T uc010zoe.2 - 0 886 c.886G>A c.(886-888)Gaa>Aaa p.E296K PRR21_uc010zod.2_5'Flank NM_173351 NP_775486 Q8NGW1 OR6B3_HUMAN Homo sapiens olfactory receptor, family 6, subfamily B, member 3 (OR6B3), mRNA. 296 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|large_intestine(10)|lung(4)|ovary(2)|prostate(1) 18 all_epithelial(40;1.64e-11)|Breast(86;0.000327)|Renal(207;0.00571)|Ovarian(221;0.104)|all_hematologic(139;0.182)|all_lung(227;0.229)|Melanoma(123;0.238) Epithelial(121;1.05e-29)|all cancers(36;3.52e-28)|OV - Ovarian serous cystadenocarcinoma(60;4.63e-14)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.56e-05)|Lung(119;0.00344)|LUSC - Lung squamous cell carcinoma(224;0.0148)|Colorectal(34;0.019)|COAD - Colon adenocarcinoma(134;0.141) TTCTTAAATTCCTTATTCCTC 0.478000 25 92 0 0 0.014410 0 0 SPTA1 6708 broad.mit.edu 37 1 158596698 158596698 + Silent SNP A G G TCGA-FS-A1YW-06A-11D-A197-08 TCGA-FS-A1YW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ede8a2a-405e-4689-967b-627bff0f1496 781d7787-9f92-4774-ac27-6c679bbd3387 g.chr1:158596698A>G uc001fst.1 - 40 5963 c.5764T>C c.(5764-5766)Ttg>Ctg p.L1922L NM_003126 NP_003117 P02549 SPTA1_HUMAN Homo sapiens spectrin, alpha, erythrocytic 1 (elliptocytosis 2) (SPTA1), mRNA. 1922 actin filament capping|actin filament organization|axon guidance|regulation of cell shape cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton actin filament binding|calcium ion binding|structural constituent of cytoskeleton NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6) 307 all_hematologic(112;0.0378) TCCAATTGCAACTTCCAAGCA 0.468000 119 70 0 0 0.014410 0 0 OR9G4 283189 broad.mit.edu 37 11 56511057 56511057 + Silent SNP G A A TCGA-FS-A1YW-06A-11D-A197-08 TCGA-FS-A1YW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ede8a2a-405e-4689-967b-627bff0f1496 781d7787-9f92-4774-ac27-6c679bbd3387 g.chr11:56511057G>A uc010rjo.2 - 0 231 c.231C>T c.(229-231)ttC>ttT p.F77F NM_001005284 NP_001005284 Q8NGQ1 OR9G4_HUMAN Homo sapiens olfactory receptor, family 9, subfamily G, member 4 (OR9G4), mRNA. 77 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.F76V(1) NS(1)|autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1) 34 GATTGCCAATGAAAAAGTACA 0.413000 41 34 0 0 0.021022 0 0 ADH1C 126 broad.mit.edu 37 4 100260777 100260777 + RNA SNP C T T TCGA-FS-A1YW-06A-11D-A197-08 TCGA-FS-A1YW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ede8a2a-405e-4689-967b-627bff0f1496 781d7787-9f92-4774-ac27-6c679bbd3387 g.chr4:100260777C>T uc021xqi.1 - 7 c.1145G>A NM_000669 P00326 ADH1G_HUMAN Homo sapiens alcohol dehydrogenase 1C (class I), gamma polypeptide (ADH1C), mRNA. ethanol oxidation|xenobiotic metabolic process cytosol alcohol dehydrogenase (NAD) activity|zinc ion binding OV - Ovarian serous cystadenocarcinoma(123;1.08e-07) Fomepizole(DB01213)|NADH(DB00157) TTTATTTTTTCAAAAGGTAAA 0.368000 38 22 0 0 0.012319 0 0 COQ6 51004 broad.mit.edu 37 14 74422197 74422197 + Silent SNP C T T TCGA-FS-A1YW-06A-11D-A197-08 TCGA-FS-A1YW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ede8a2a-405e-4689-967b-627bff0f1496 781d7787-9f92-4774-ac27-6c679bbd3387 g.chr14:74422197C>T uc001xph.3 + 2 423 c.342C>T c.(340-342)gcC>gcT p.A114A COQ6_uc001xpe.3_Intron|COQ6_uc010tuk.2_Silent_p.A89A|COQ6_uc010tum.2_Silent_p.A114A|COQ6_uc010tul.2_Intron|COQ6_uc010tun.2_Intron|COQ6_uc021rwk.1_Intron NM_182476 NP_872282 Q9Y2Z9 COQ6_HUMAN Homo sapiens coenzyme Q6 homolog, monooxygenase (S. cerevisiae) (COQ6), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA. 114 ubiquinone biosynthetic process mitochondrion flavin adenine dinucleotide binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NADH or NADPH as one donor, and incorporation of one atom of oxygen breast(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|upper_aerodigestive_tract(1) 16 BRCA - Breast invasive adenocarcinoma(234;0.00337) GATACAGAGCCTTTCGGCGAA 0.458000 57 48 0 0 0.014410 0 0 EPHX1 2052 broad.mit.edu 37 1 226019497 226019497 + Silent SNP C T T TCGA-FS-A1YW-06A-11D-A197-08 TCGA-FS-A1YW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ede8a2a-405e-4689-967b-627bff0f1496 781d7787-9f92-4774-ac27-6c679bbd3387 g.chr1:226019497C>T uc001hpk.3 + 2 281 c.201C>T c.(199-201)atC>atT p.I67I EPHX1_uc001hpl.3_Silent_p.I67I NM_001136018 NP_001129490 P07099 HYEP_HUMAN Homo sapiens epoxide hydrolase 1, microsomal (xenobiotic) (EPHX1), transcript variant 2, mRNA. 67 aromatic compound catabolic process|response to toxin endoplasmic reticulum membrane|integral to membrane|microsome cis-stilbene-oxide hydrolase activity|epoxide hydrolase activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(7)|ovary(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 28 Breast(184;0.197) ACCAGAGGATCGATAAGTTCC 0.488000 42 27 0 0 0.006320 0 0 CASC5 57082 broad.mit.edu 37 15 40901081 40901081 + Nonsense_Mutation SNP C T T TCGA-FS-A1YW-06A-11D-A197-08 TCGA-FS-A1YW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ede8a2a-405e-4689-967b-627bff0f1496 781d7787-9f92-4774-ac27-6c679bbd3387 g.chr15:40901081C>T uc010bbs.1 + 4 333 c.172C>T c.(172-174)Cga>Tga p.R58* CASC5_uc010ucq.1_5'UTR|CASC5_uc001zme.3_Nonsense_Mutation_p.R58*|CASC5_uc010bbt.1_Nonsense_Mutation_p.R58* NM_170589 NP_733468 Q8NG31 CASC5_HUMAN Homo sapiens cancer susceptibility candidate 5 (CASC5), transcript variant 1, mRNA. 58 Interaction with BUB1 and BUB1B. CenH3-containing nucleosome assembly at centromere|acrosome assembly|attachment of spindle microtubules to kinetochore|cell division|mitotic prometaphase|spindle assembly checkpoint acrosomal vesicle|condensed chromosome kinetochore|cytosol|nucleoplasm protein binding NS(1)|breast(7)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(13)|lung(16)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 57 all_cancers(109;2.03e-18)|all_epithelial(112;4.26e-15)|Lung NSC(122;1.12e-10)|all_lung(180;2.59e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946) GBM - Glioblastoma multiforme(113;4.99e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0861)|COAD - Colon adenocarcinoma(120;0.211) AAACTCTCGTCGAGTCAGCTT 0.313000 29 24 0 0 0.024334 0 0 CSNK1D 1453 broad.mit.edu 37 17 80213335 80213335 + Silent SNP G A A TCGA-FS-A1YW-06A-11D-A197-08 TCGA-FS-A1YW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ede8a2a-405e-4689-967b-627bff0f1496 781d7787-9f92-4774-ac27-6c679bbd3387 g.chr17:80213335G>A uc002kej.3 - 2 643 c.306C>T c.(304-306)ctC>ctT p.L102L CSNK1D_uc002kei.3_Silent_p.L102L|CSNK1D_uc010wvj.2_5'UTR|CSNK1D_uc002keh.3_5'Flank|CSNK1D_uc010dim.1_5'Flank NM_001893 NP_001884 P48730 KC1D_HUMAN Homo sapiens casein kinase 1, delta (CSNK1D), transcript variant 1, mRNA. 102 Protein kinase. DNA repair|G2/M transition of mitotic cell cycle|Wnt receptor signaling pathway|circadian regulation of gene expression|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|regulation of circadian rhythm centrosome|cytosol|nucleus ATP binding|protein binding|protein serine/threonine kinase activity breast(2)|large_intestine(2)|lung(7) 11 Breast(20;0.00136)|all_neural(118;0.0804)|Lung NSC(278;0.128)|all_lung(278;0.145)|Ovarian(332;0.227) OV - Ovarian serous cystadenocarcinoma(97;0.00463)|BRCA - Breast invasive adenocarcinoma(99;0.0155) GGACGGTTTTGAGGCTGAATT 0.542000 78 36 0 0 0.023175 0 0 OR2Z1 284383 broad.mit.edu 37 19 8842008 8842008 + Silent SNP C T T TCGA-FS-A1YW-06A-11D-A197-08 TCGA-FS-A1YW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ede8a2a-405e-4689-967b-627bff0f1496 781d7787-9f92-4774-ac27-6c679bbd3387 g.chr19:8842008C>T uc010xkg.2 + 0 618 c.618C>T c.(616-618)atC>atT p.I206I NM_001004699 NP_001004699 Q8NG97 OR2Z1_HUMAN Homo sapiens olfactory receptor, family 2, subfamily Z, member 1 (OR2Z1), mRNA. 206 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 GGGTGCTGATCCTAATGCTCC 0.572000 52 38 0 0 0.021022 0 0 RDH16 8608 broad.mit.edu 37 12 57348854 57348854 + Silent SNP C T T TCGA-FS-A1YW-06A-11D-A197-08 TCGA-FS-A1YW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ede8a2a-405e-4689-967b-627bff0f1496 781d7787-9f92-4774-ac27-6c679bbd3387 g.chr12:57348854C>T uc001smi.4 - 1 580 c.408G>A c.(406-408)gtG>gtA p.V136V RDH16_uc009zpa.3_Intron NM_003708 NP_003699 O75452 RDH16_HUMAN Homo sapiens retinol dehydrogenase 16 (all-trans) (RDH16), mRNA. 136 lipid metabolic process endoplasmic reticulum membrane|integral to membrane|microsome binding|electron carrier activity|retinol dehydrogenase activity haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9) 16 CCAACAAGTTCACGTCCAGTA 0.587000 35 33 0 0 0.013726 0 0 TTN 7273 broad.mit.edu 37 2 179431635 179431635 + Silent SNP G A A TCGA-FS-A1YW-06A-11D-A197-08 TCGA-FS-A1YW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ede8a2a-405e-4689-967b-627bff0f1496 781d7787-9f92-4774-ac27-6c679bbd3387 g.chr2:179431635G>A uc021vsy.1 - 274 71745 c.71520C>T c.(71518-71520)aaC>aaT p.N23840N MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Silent_p.N17535N|TTN_uc021vta.1_Silent_p.N17468N|TTN_uc021vtb.1_Silent_p.N17343N NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN Homo sapiens titin (TTN), transcript variant N2-A, mRNA. 24767 Fibronectin type-III 73. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) TATCTGGACGGTTCCAACAGA 0.413000 17 45 0 0 0.011902 0 0 PCDHB3 56132 broad.mit.edu 37 5 140481738 140481738 + Missense_Mutation SNP C T T TCGA-FS-A1YW-06A-11D-A197-08 TCGA-FS-A1YW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ede8a2a-405e-4689-967b-627bff0f1496 781d7787-9f92-4774-ac27-6c679bbd3387 g.chr5:140481738C>T uc003lio.3 + 0 1505 c.1505C>T c.(1504-1506)tCc>tTc p.S502F BC016751_uc003lin.3_Non-coding_Transcript NM_018937 NP_061760 Q9Y5E6 PCDB3_HUMAN Homo sapiens protocadherin beta 3 (PCDHB3), mRNA. 502 Cadherin 5. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to plasma membrane calcium ion binding NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 72 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) CCCCTCTCTTCCCTGGTCTCC 0.657000 71 55 0 0 0.014410 0 0 LAMA3 3909 broad.mit.edu 37 18 21489122 21489122 + Missense_Mutation SNP A G G TCGA-FS-A1YW-06A-11D-A197-08 TCGA-FS-A1YW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ede8a2a-405e-4689-967b-627bff0f1496 781d7787-9f92-4774-ac27-6c679bbd3387 g.chr18:21489122A>G uc002kuq.3 + 54 7107 c.7021A>G c.(7021-7023)Aag>Gag p.K2341E LAMA3_uc002kur.3_Missense_Mutation_p.K2285E|LAMA3_uc002kus.4_Missense_Mutation_p.K732E|LAMA3_uc002kut.4_Missense_Mutation_p.K676E NM_198129 NP_937762 Q16787 LAMA3_HUMAN Homo sapiens laminin, alpha 3 (LAMA3), transcript variant 1, mRNA. 2341 Domain II and I. cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development laminin-1 complex receptor binding|structural molecule activity NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4) 128 all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) AACAGTGAATAAGTTAACCAA 0.373000 36 22 0 0 0.012319 0 0 CRMP1 1400 broad.mit.edu 37 4 5843034 5843034 + Splice_Site SNP C T T TCGA-FS-A1YW-06A-11D-A197-08 TCGA-FS-A1YW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ede8a2a-405e-4689-967b-627bff0f1496 781d7787-9f92-4774-ac27-6c679bbd3387 g.chr4:5843034C>T uc003gis.3 - 8 1242 c.1153_splice c.e8+1 p.G385_splice CRMP1_uc003giq.3_Splice_Site_p.G271_splice|CRMP1_uc003gir.3_Splice_Site_p.G266_splice NM_001014809 NP_001014809 Q14194 DPYL1_HUMAN Homo sapiens collapsin response mediator protein 1 (CRMP1), transcript variant 1, mRNA. 271 axon guidance|pyrimidine base catabolic process cytosol|microtubule organizing center|spindle dihydropyrimidinase activity|protein binding NS(1)|cervix(2)|endometrium(4)|large_intestine(10)|lung(11)|ovary(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 36 Colorectal(103;0.0721) CGGCTGCATACCTTTCTTCCT 0.627000 123 90 0 0 0.014410 0 0 PCDHAC2 56134 broad.mit.edu 37 5 140166149 140166149 + Missense_Mutation SNP C A A TCGA-FS-A1YW-06A-11D-A197-08 TCGA-FS-A1YW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ede8a2a-405e-4689-967b-627bff0f1496 781d7787-9f92-4774-ac27-6c679bbd3387 g.chr5:140166149C>A uc003lhb.2 + 0 274 c.274C>A c.(274-276)Cgc>Agc p.R92S PCDHAC2_uc003lha.2_Missense_Mutation_p.R92S|PCDHAC2_uc003lgz.3_Missense_Mutation_p.R92S NM_018900 NP_061723 Q9Y5I4 PCDC2_HUMAN Homo sapiens protocadherin alpha 1 (PCDHA1), transcript variant 1, mRNA. 107 Cadherin 1. homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1) 45 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TCGGATCGATCGCGAGGAGCT 0.567000 63 57 3.76628e-20 5.25742e-20 0.014410 1 0 OTUD7A 161725 broad.mit.edu 37 15 31776565 31776565 + Missense_Mutation SNP G C C TCGA-FS-A1YW-06A-11D-A197-08 TCGA-FS-A1YW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ede8a2a-405e-4689-967b-627bff0f1496 781d7787-9f92-4774-ac27-6c679bbd3387 g.chr15:31776565G>C uc001zfq.3 - 10 1806 c.1713C>G c.(1711-1713)agC>agG p.S571R OTUD7A_uc001zfr.3_Missense_Mutation_p.S578R NM_130901 NP_570971 Q8TE49 OTU7A_HUMAN Homo sapiens OTU domain containing 7A (OTUD7A), mRNA. 571 cytoplasm|nucleus DNA binding|cysteine-type peptidase activity|zinc ion binding p.G570C(1) endometrium(7)|large_intestine(4)|lung(11)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(4) 30 all_lung(180;1.6e-09) all cancers(64;2.44e-19)|Epithelial(43;6.82e-14)|GBM - Glioblastoma multiforme(186;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00189)|Lung(196;0.208) ACTCCTCCTTGCTGCCCTTGC 0.692000 17 11 0 0 0.016723 0 0 COL5A1 1289 broad.mit.edu 37 9 137622145 137622145 + Missense_Mutation SNP G A A TCGA-FS-A1YW-06A-11D-A197-08 TCGA-FS-A1YW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ede8a2a-405e-4689-967b-627bff0f1496 781d7787-9f92-4774-ac27-6c679bbd3387 g.chr9:137622145G>A uc004cfe.3 + 6 1370 c.988G>A c.(988-990)Gaa>Aaa p.E330K NM_000093 NP_000084 P20908 CO5A1_HUMAN Homo sapiens collagen, type V, alpha 1 (COL5A1), mRNA. 330 Nonhelical region. axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells collagen type V heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4) 115 Myeloproliferative disorder(178;0.0341) all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131) GGCTGGGAAGGAAGAGGACGT 0.617000 18 39 0 0 0.023175 0 0 HIST1H2AA 221613 broad.mit.edu 37 6 25726674 25726674 + Missense_Mutation SNP C T T TCGA-FS-A1YW-06A-11D-A197-08 TCGA-FS-A1YW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ede8a2a-405e-4689-967b-627bff0f1496 781d7787-9f92-4774-ac27-6c679bbd3387 g.chr6:25726674C>T uc003nfc.3 - 0 117 c.82G>A c.(82-84)Gta>Ata p.V28I HIST1H2BA_uc003nfd.3_5'Flank NM_170745 NP_734466 Q96QV6 H2A1A_HUMAN Homo sapiens histone cluster 1, H2aa (HIST1H2AA), mRNA. 28 nucleosome assembly nucleosome|nucleus DNA binding breast(1)|endometrium(2)|large_intestine(2)|lung(8) 13 ATCCGGCCTACGGGAAACTGC 0.547000 42 37 0 0 0.021022 0 0 MXRA5 25878 broad.mit.edu 37 X 3228149 3228149 + Missense_Mutation SNP G A A TCGA-FS-A1YW-06A-11D-A197-08 TCGA-FS-A1YW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ede8a2a-405e-4689-967b-627bff0f1496 781d7787-9f92-4774-ac27-6c679bbd3387 g.chrX:3228149G>A uc004crg.4 - 6 8252 c.8095C>T c.(8095-8097)Cgt>Tgt p.R2699C NM_015419 NP_056234 Q9NR99 MXRA5_HUMAN Homo sapiens matrix-remodelling associated 5 (MXRA5), mRNA. 2699 Ig-like C2-type 11. extracellular region NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2) 157 all_lung(23;0.00031)|Lung NSC(23;0.000946) GAGGCCTCACGAACCGTGAGG 0.597000 6 32 0 0 0.017118 0 0 THBS3 7059 broad.mit.edu 37 1 155175012 155175012 + Nonsense_Mutation SNP G A A TCGA-FS-A1YW-06A-11D-A197-08 TCGA-FS-A1YW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ede8a2a-405e-4689-967b-627bff0f1496 781d7787-9f92-4774-ac27-6c679bbd3387 g.chr1:155175012G>A uc001fix.3 - 2 487 c.382C>T c.(382-384)Cga>Tga p.R128* THBS3_uc010pfu.2_Intron|THBS3_uc009wqi.3_Nonsense_Mutation_p.R128*|THBS3_uc001fiy.3_5'UTR|THBS3_uc010pfv.2_Intron|THBS3_uc001fja.2_Non-coding_Transcript|THBS3_uc009wqj.1_Nonsense_Mutation_p.R90* NM_007112 NP_009043 P49746 TSP3_HUMAN Homo sapiens thrombospondin 3 (THBS3), transcript variant 1, mRNA. 128 TSP N-terminal. cell-matrix adhesion extracellular region|perinuclear region of cytoplasm calcium ion binding|heparin binding|structural molecule activity breast(6)|endometrium(4)|kidney(4)|large_intestine(6)|lung(14)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(3) 48 all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877) Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193) CCTCGGAGTCGCAGGAGAACT 0.622000 85 19 0 0 0.010504 0 0 FPR1 2357 broad.mit.edu 37 19 52250217 52250217 + Missense_Mutation SNP T G G TCGA-FS-A1YW-06A-11D-A197-08 TCGA-FS-A1YW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ede8a2a-405e-4689-967b-627bff0f1496 781d7787-9f92-4774-ac27-6c679bbd3387 g.chr19:52250217T>G uc021uyn.1 - 2 177 c.31A>C c.(31-33)Atc>Ctc p.I11L FPR1_uc002pxq.3_Missense_Mutation_p.I11L|FPR1_uc021uyo.1_Missense_Mutation_p.I11L NM_001193306 NP_002020 P21462 FPR1_HUMAN Homo sapiens formyl peptide receptor 1 (FPR1), transcript variant 1, mRNA. 11 I -> T (in dbSNP:rs5030878). G-protein signaling, coupled to cAMP nucleotide second messenger|activation of MAPK activity|cellular component movement|chemotaxis|nitric oxide mediated signal transduction endosome|integral to membrane|plasma membrane N-formyl peptide receptor activity endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(3) 20 all_neural(266;0.0189)|Medulloblastoma(540;0.146) GBM - Glioblastoma multiforme(134;0.00106)|OV - Ovarian serous cystadenocarcinoma(262;0.018) Nedocromil(DB00716) CCTCCAGAGATGTTCGTGGGG 0.502000 10 13 0 0 0.013537 0 0 STL 7955 broad.mit.edu 37 6 125233728 125233728 + RNA SNP C T T TCGA-FS-A1YW-06A-11D-A197-08 TCGA-FS-A1YW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ede8a2a-405e-4689-967b-627bff0f1496 781d7787-9f92-4774-ac27-6c679bbd3387 g.chr6:125233728C>T uc003pzq.3 - 6 c.1006G>A Homo sapiens six-twelve leukemia (STL), non-coding RNA. tcacgatattcccccaggtct 0.428000 T ETV6 B-ALL 0 2 0 0 0.004672 0 0 OR4F6 390648 broad.mit.edu 37 15 102346044 102346044 + Missense_Mutation SNP G A A TCGA-FS-A1YW-06A-11D-A197-08 TCGA-FS-A1YW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ede8a2a-405e-4689-967b-627bff0f1496 781d7787-9f92-4774-ac27-6c679bbd3387 g.chr15:102346044G>A uc010utr.2 + 0 122 c.122G>A c.(121-123)gGa>gAa p.G41E NM_001005326 NP_001005326 Q8NGB9 OR4F6_HUMAN Homo sapiens olfactory receptor, family 4, subfamily F, member 6 (OR4F6), mRNA. 41 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|large_intestine(1)|lung(16)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 22 Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505) OV - Ovarian serous cystadenocarcinoma(32;0.00039)|Lung(145;0.17)|LUSC - Lung squamous cell carcinoma(107;0.187) AGCCTGATGGGAAATCTCCTC 0.483000 150 109 0 0 0.014410 0 0 MCTP2 55784 broad.mit.edu 37 15 95019952 95019952 + Missense_Mutation SNP G A A TCGA-FS-A1YW-06A-11D-A197-08 TCGA-FS-A1YW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ede8a2a-405e-4689-967b-627bff0f1496 781d7787-9f92-4774-ac27-6c679bbd3387 g.chr15:95019952G>A uc002btj.3 + 20 2563 c.2498G>A c.(2497-2499)cGa>cAa p.R833Q MCTP2_uc010boj.3_Missense_Mutation_p.R562Q|MCTP2_uc010bok.3_Missense_Mutation_p.R778Q|MCTP2_uc002btl.3_Missense_Mutation_p.R421Q NM_018349 NP_060819 Q6DN12 MCTP2_HUMAN Homo sapiens multiple C2 domains, transmembrane 2 (MCTP2), transcript variant 1, mRNA. 833 calcium-mediated signaling integral to membrane|membrane fraction calcium ion binding p.R833Q(2) autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|liver(1)|lung(12)|ovary(1)|pancreas(1)|skin(9)|stomach(2) 49 Lung NSC(78;0.0821)|all_lung(78;0.148) BRCA - Breast invasive adenocarcinoma(143;0.0323)|OV - Ovarian serous cystadenocarcinoma(32;0.0593) AAGAAGCTTCGAAATCCCTAT 0.363000 47 29 0 0 0.012213 0 0 FREM2 341640 broad.mit.edu 37 13 39343808 39343808 + Missense_Mutation SNP C T T TCGA-FS-A1YW-06A-11D-A197-08 TCGA-FS-A1YW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ede8a2a-405e-4689-967b-627bff0f1496 781d7787-9f92-4774-ac27-6c679bbd3387 g.chr13:39343808C>T uc001uwv.3 + 3 5813 c.5504C>T c.(5503-5505)gCc>gTc p.A1835V FREM2_uc001uww.3_5'UTR NM_207361 NP_997244 Q5SZK8 FREM2_HUMAN Homo sapiens FRAS1 related extracellular matrix protein 2 (FREM2), mRNA. 1835 Calx-beta 1. cell communication|homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2) 148 Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114) all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312) CAGACCAGGGCCACATGGCGA 0.532000 49 13 0 0 0.016723 0 0 MDN1 23195 broad.mit.edu 37 6 90368015 90368015 + Silent SNP G A A TCGA-FS-A1YW-06A-11D-A197-08 TCGA-FS-A1YW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ede8a2a-405e-4689-967b-627bff0f1496 781d7787-9f92-4774-ac27-6c679bbd3387 g.chr6:90368015G>A uc003pnn.1 - 89 15212 c.15096C>T c.(15094-15096)tcC>tcT p.S5032S NM_014611 NP_055426 Q9NU22 MDN1_HUMAN Homo sapiens MDN1, midasin homolog (yeast) (MDN1), mRNA. 5032 protein complex assembly|regulation of protein complex assembly nucleus ATP binding|ATPase activity|unfolded protein binding NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2) 218 all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246) BRCA - Breast invasive adenocarcinoma(108;0.0193) TCTGCCCACAGGAGGCATGCT 0.567000 129 54 0 0 0.014410 0 0 SPINK5 11005 broad.mit.edu 37 5 147486618 147486618 + Missense_Mutation SNP C T T TCGA-FS-A1YW-06A-11D-A197-08 TCGA-FS-A1YW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ede8a2a-405e-4689-967b-627bff0f1496 781d7787-9f92-4774-ac27-6c679bbd3387 g.chr5:147486618C>T uc003lox.2 + 16 1571 c.1498C>T c.(1498-1500)Cgg>Tgg p.R500W SPINK5_uc010jgs.1_Missense_Mutation_p.R472W|SPINK5_uc010jgr.2_Missense_Mutation_p.R481W|SPINK5_uc003low.2_Missense_Mutation_p.R500W|SPINK5_uc003loy.2_Missense_Mutation_p.R500W NM_006846 NP_006837 Q9NQ38 ISK5_HUMAN Homo sapiens serine peptidase inhibitor, Kazal type 5 (SPINK5), transcript variant 2, mRNA. 500 Kazal-like 8. anagen|epithelial cell differentiation|extracellular matrix organization|hair cell differentiation|negative regulation of angiogenesis|negative regulation of immune response|regulation of T cell differentiation cell cortex|cytosol|endoplasmic reticulum membrane|extracellular region|lamellar body|perinuclear region of cytoplasm serine-type endopeptidase inhibitor activity breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(8)|upper_aerodigestive_tract(2) 64 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CAGTGAATTTCGGGACCAAGT 0.423000 51 39 0 0 0.008740 0 0 PLCH1 23007 broad.mit.edu 37 3 155241775 155241775 + Missense_Mutation SNP G A A TCGA-FS-A1YW-06A-11D-A197-08 TCGA-FS-A1YW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ede8a2a-405e-4689-967b-627bff0f1496 781d7787-9f92-4774-ac27-6c679bbd3387 g.chr3:155241775G>A uc021xge.1 - 9 1622 c.1345C>T c.(1345-1347)Cac>Tac p.H449Y PLCH1_uc021xgd.1_Missense_Mutation_p.H449Y|PLCH1_uc021xgf.1_Missense_Mutation_p.H431Y NM_001130960 NP_001124432 Q4KWH8 PLCH1_HUMAN Homo sapiens phospholipase C, eta 1 (PLCH1), transcript variant 1, mRNA. 449 lipid catabolic process|phosphatidylinositol-mediated signaling membrane calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4) 107 Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114) TCCCCAAGGTGATAAGGCAAC 0.403000 94 75 0 0 0.014410 0 0 FUT9 10690 broad.mit.edu 37 6 96651941 96651941 + Missense_Mutation SNP G A A TCGA-FS-A1YW-06A-11D-A197-08 TCGA-FS-A1YW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ede8a2a-405e-4689-967b-627bff0f1496 781d7787-9f92-4774-ac27-6c679bbd3387 g.chr6:96651941G>A uc003pop.4 + 2 1251 c.910G>A c.(910-912)Gaa>Aaa p.E304K FUT9_uc021zcw.1_Missense_Mutation_p.E304K NM_006581 NP_006572 Q9Y231 FUT9_HUMAN Homo sapiens fucosyltransferase 9 (alpha (1,3) fucosyltransferase) (FUT9), mRNA. 304 L-fucose catabolic process|protein glycosylation Golgi cisterna membrane|integral to membrane alpha(1,3)-fucosyltransferase activity NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|liver(2)|lung(10)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2) 34 all_cancers(76;4.77e-07)|Acute lymphoblastic leukemia(125;4.01e-09)|all_hematologic(75;1.25e-06)|all_epithelial(107;0.00279)|Colorectal(196;0.0356) BRCA - Breast invasive adenocarcinoma(108;0.08) GTATCTGAAGGAAGTCGACAA 0.378000 62 19 0 0 0.006122 0 0 DNAH8 1769 broad.mit.edu 37 6 38691132 38691132 + Missense_Mutation SNP G A A TCGA-FS-A1YW-06A-11D-A197-08 TCGA-FS-A1YW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ede8a2a-405e-4689-967b-627bff0f1496 781d7787-9f92-4774-ac27-6c679bbd3387 g.chr6:38691132G>A uc021yzh.1 + 2 519 c.410G>A c.(409-411)aGg>aAg p.R137K DNAH8_uc003ooe.2_5'UTR NM_001206927 NP_001193856 Homo sapiens dynein, axonemal, heavy chain 8 (DNAH8), mRNA. NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4) 260 AGAGAGGCAAGGGAAAGCCGA 0.313000 58 86 0 0 0.014410 0 0 PCDHB6 56130 broad.mit.edu 37 5 140531671 140531671 + Silent SNP T G G TCGA-FS-A1YW-06A-11D-A197-08 TCGA-FS-A1YW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ede8a2a-405e-4689-967b-627bff0f1496 781d7787-9f92-4774-ac27-6c679bbd3387 g.chr5:140531671T>G uc003lir.3 + 0 1833 c.1833T>G c.(1831-1833)ggT>ggG p.G611G NM_018939 NP_061762 Q9Y5E3 PCDB6_HUMAN Homo sapiens protocadherin beta 6 (PCDHB6), mRNA. 611 Cadherin 6. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to plasma membrane calcium ion binding cervix(1)|endometrium(14)|kidney(6)|large_intestine(16)|liver(1)|lung(33)|ovary(1)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 84 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) CGGAGCTCGGTCTGTTCGGCG 0.677000 37 4 0 0 0.021553 0 0 C16orf78 123970 broad.mit.edu 37 16 49430546 49430546 + Missense_Mutation SNP G A A TCGA-FS-A1YW-06A-11D-A197-08 TCGA-FS-A1YW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ede8a2a-405e-4689-967b-627bff0f1496 781d7787-9f92-4774-ac27-6c679bbd3387 g.chr16:49430546G>A uc002efr.3 + 3 650 c.607G>A c.(607-609)Gaa>Aaa p.E203K NM_144602 NP_653203 Q8WTQ4 CP078_HUMAN Homo sapiens chromosome 16 open reading frame 78 (C16orf78), mRNA. 203 breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|upper_aerodigestive_tract(1) 22 ACCTAAGATGGAAACCATGAG 0.552000 24 16 0 0 0.004990 0 0 TCF19 6941 broad.mit.edu 37 6 31127306 31127306 + Silent SNP C T T TCGA-FS-A1YW-06A-11D-A197-08 TCGA-FS-A1YW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ede8a2a-405e-4689-967b-627bff0f1496 781d7787-9f92-4774-ac27-6c679bbd3387 g.chr6:31127306C>T uc003nss.3 + 1 584 c.60C>T c.(58-60)acC>acT p.T20T CCHCR1_uc011dne.2_5'Flank|CCHCR1_uc003nsq.4_5'Flank|CCHCR1_uc003nsp.4_5'Flank|CCHCR1_uc003nsr.4_5'Flank|CCHCR1_uc010jsk.1_5'Flank|TCF19_uc003nst.3_Silent_p.T20T NM_001077511 NP_009040 Q9Y242 TCF19_HUMAN Homo sapiens transcription factor 19 (TCF19), transcript variant 2, mRNA. 20 cell proliferation|regulation of transcription from RNA polymerase II promoter nucleus sequence-specific DNA binding transcription factor activity|zinc ion binding kidney(1)|large_intestine(1)|lung(5)|prostate(1)|skin(1) 9 ATCTCTACACCTTCCACCCCC 0.682000 8 9 0 0 0.008291 0 0 CCT6P3 643180 broad.mit.edu 37 7 64529093 64529093 + RNA SNP G C C TCGA-FS-A1YW-06A-11D-A197-08 TCGA-FS-A1YW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ede8a2a-405e-4689-967b-627bff0f1496 781d7787-9f92-4774-ac27-6c679bbd3387 g.chr7:64529093G>C uc003ttt.1 + 5 c.789G>C CCT6P3_uc010kzt.1_Non-coding_Transcript Homo sapiens chaperonin containing TCP1, subunit 6 (zeta) pseudogene 3 (CCT6P3), non-coding RNA. ATAGGGAATTGACCCCTTTTC 0.333000 3 3 0 0 0.014758 0 0 KSR2 283455 broad.mit.edu 37 12 118199251 118199251 + Missense_Mutation SNP G A A TCGA-FS-A1YW-06A-11D-A197-08 TCGA-FS-A1YW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ede8a2a-405e-4689-967b-627bff0f1496 781d7787-9f92-4774-ac27-6c679bbd3387 g.chr12:118199251G>A uc001two.2 - 3 519 c.464C>T c.(463-465)cCc>cTc p.P155L NM_173598 NP_775869 Q6VAB6 KSR2_HUMAN Homo sapiens kinase suppressor of ras 2 (KSR2), mRNA. 184 intracellular signal transduction cytoplasm|membrane ATP binding|metal ion binding|protein serine/threonine kinase activity NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 67 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) GGGCTCCGGGGGGCACACGGG 0.627000 49 34 0 0 0.015359 0 0 PDZRN4 29951 broad.mit.edu 37 12 41949548 41949548 + Missense_Mutation SNP G A A TCGA-FS-A1YW-06A-11D-A197-08 TCGA-FS-A1YW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ede8a2a-405e-4689-967b-627bff0f1496 781d7787-9f92-4774-ac27-6c679bbd3387 g.chr12:41949548G>A uc010skn.2 + 6 1359 c.1351G>A c.(1351-1353)Gat>Aat p.D451N PDZRN4_uc001rmq.4_Missense_Mutation_p.D193N|PDZRN4_uc009zjz.3_Missense_Mutation_p.D191N|PDZRN4_uc001rmr.3_Missense_Mutation_p.D78N NM_001164595 NP_001158067 Q6ZMN7 PZRN4_HUMAN Homo sapiens PDZ domain containing ring finger 4 (PDZRN4), transcript variant 1, mRNA. 451 PDZ 2. ubiquitin-protein ligase activity|zinc ion binding p.R450W(1)|p.R450R(1) breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 77 all_cancers(12;0.000673) Lung NSC(34;0.0205)|all_lung(34;0.0264) TCGAGAAGGGGATCGGATTTT 0.408000 47 34 0 0 0.025465 0 0 RIMBP2 23504 broad.mit.edu 37 12 130926629 130926629 + Missense_Mutation SNP G A A TCGA-FS-A1YW-06A-11D-A197-08 TCGA-FS-A1YW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ede8a2a-405e-4689-967b-627bff0f1496 781d7787-9f92-4774-ac27-6c679bbd3387 g.chr12:130926629G>A uc001uil.2 - 7 1433 c.1217C>T c.(1216-1218)tCc>tTc p.S406F RIMBP2_uc001uim.3_Missense_Mutation_p.S314F NM_015347 NP_056162 O15034 RIMB2_HUMAN Homo sapiens RIMS binding protein 2 (RIMBP2), mRNA. 406 Fibronectin type-III 2. cell junction|synapse NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1) 96 all_neural(191;0.101)|Medulloblastoma(191;0.163) all_epithelial(31;0.213) OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05) GAGCTGGGCGGAGATCTGCGT 0.622000 24 21 0 0 0.010504 0 0 TXK 7294 broad.mit.edu 37 4 48078475 48078475 + Silent SNP C T T TCGA-FS-A1YW-06A-11D-A197-08 TCGA-FS-A1YW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ede8a2a-405e-4689-967b-627bff0f1496 781d7787-9f92-4774-ac27-6c679bbd3387 g.chr4:48078475C>T uc003gxx.4 - 11 1268 c.1182G>A c.(1180-1182)agG>agA p.R394R TXK_uc010igj.3_Non-coding_Transcript|TXK_uc011bzj.2_Silent_p.R81R NM_003328 NP_003319 P42681 TXK_HUMAN Homo sapiens TXK tyrosine kinase (TXK), mRNA. 394 Protein kinase. cytoplasm ATP binding|non-membrane spanning protein tyrosine kinase activity breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|prostate(2) 25 CCAAACAATTCCTTGCCGCCT 0.333000 37 32 0 0 0.019004 0 0 MUC16 94025 broad.mit.edu 37 19 8993398 8993398 + Silent SNP C T T TCGA-FS-A1YW-06A-11D-A197-08 TCGA-FS-A1YW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ede8a2a-405e-4689-967b-627bff0f1496 781d7787-9f92-4774-ac27-6c679bbd3387 g.chr19:8993398C>T uc002mkp.3 - 65 41895 c.41691G>A c.(41689-41691)ctG>ctA p.L13897L MUC16_uc010dwi.3_Non-coding_Transcript|MUC16_uc010dwj.3_Silent_p.L714L|MUC16_uc021uog.1_Non-coding_Transcript NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN Homo sapiens mucin 16, cell surface associated (MUC16), mRNA. 13900 SEA 12. Missing (in Ref. 3; AAK74120). cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 TGTCCCTGTCCAGTGTGTAGG 0.567000 70 33 0 0 0.023175 0 0 H2BFWT 158983 broad.mit.edu 37 X 103268042 103268042 + Missense_Mutation SNP C T T TCGA-FS-A1YW-06A-11D-A197-08 TCGA-FS-A1YW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ede8a2a-405e-4689-967b-627bff0f1496 781d7787-9f92-4774-ac27-6c679bbd3387 g.chrX:103268042C>T uc004elr.3 - 0 215 c.191G>A c.(190-192)cGa>cAa p.R64Q NM_001002916 NP_001002916 Q7Z2G1 H2BWT_HUMAN Homo sapiens H2B histone family, member W, testis-specific (H2BFWT), mRNA. 64 nucleosome assembly nuclear membrane|nucleosome DNA binding breast(2)|endometrium(3)|large_intestine(2)|lung(7)|ovary(1)|upper_aerodigestive_tract(1) 16 ATGGCGCCCTCGCTTCCTCTG 0.637000 5 22 0 0 0.014323 0 0 MTMR1 8776 broad.mit.edu 37 X 149887149 149887149 + Missense_Mutation SNP C T T TCGA-FS-A1YW-06A-11D-A197-08 TCGA-FS-A1YW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ede8a2a-405e-4689-967b-627bff0f1496 781d7787-9f92-4774-ac27-6c679bbd3387 g.chrX:149887149C>T uc004feh.1 + 3 464 c.329C>T c.(328-330)cCa>cTa p.P110L MTMR1_uc011mya.1_Missense_Mutation_p.P8L|MTMR1_uc004feg.1_Missense_Mutation_p.P102L|MTMR1_uc004fei.3_Missense_Mutation_p.P102L|MTMR1_uc004fej.3_Non-coding_Transcript|MTMR1_uc010ntf.3_Non-coding_Transcript NM_003828 NP_003819 Q13613 MTMR1_HUMAN Homo sapiens myotubularin related protein 1 (MTMR1), mRNA. 102 GRAM. plasma membrane protein tyrosine phosphatase activity central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(5)|ovary(2)|prostate(1) 23 Acute lymphoblastic leukemia(192;6.56e-05) CCACTTTTCCCAGGAGAATCA 0.358000 7 20 0 0 0.010504 0 0 PTPRC 5788 broad.mit.edu 37 1 198711436 198711436 + Silent SNP G A A TCGA-FS-A1YW-06A-11D-A197-08 TCGA-FS-A1YW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ede8a2a-405e-4689-967b-627bff0f1496 781d7787-9f92-4774-ac27-6c679bbd3387 g.chr1:198711436G>A uc001gur.1 + 24 2811 c.2631G>A c.(2629-2631)gtG>gtA p.V877V PTPRC_uc001gut.1_Silent_p.V716V NM_002838 NP_002829 P08575 PTPRC_HUMAN Homo sapiens protein tyrosine phosphatase, receptor type, C (PTPRC), transcript variant 1, mRNA. 877 Tyrosine-protein phosphatase 1. B cell proliferation|B cell receptor signaling pathway|T cell differentiation|T cell receptor signaling pathway|axon guidance|defense response to virus|immunoglobulin biosynthetic process|negative regulation of T cell mediated cytotoxicity|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|positive regulation of B cell proliferation|positive regulation of T cell proliferation|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of protein kinase activity|regulation of S phase|release of sequestered calcium ion into cytosol focal adhesion|integral to plasma membrane|membrane raft protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3) 111 AGAACAAAGTGGATGTTTATG 0.438000 74 55 0 0 0.014410 0 0 ACE 1636 broad.mit.edu 37 17 61562671 61562671 + Missense_Mutation SNP G A A TCGA-FS-A1YW-06A-11D-A197-08 TCGA-FS-A1YW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ede8a2a-405e-4689-967b-627bff0f1496 781d7787-9f92-4774-ac27-6c679bbd3387 g.chr17:61562671G>A uc002jau.2 + 12 2030 c.1996G>A c.(1996-1998)Gag>Aag p.E666K ACE_uc010ddu.2_Missense_Mutation_p.E483K|ACE_uc010wpj.2_Missense_Mutation_p.E92K|ACE_uc010ddv.2_5'UTR|ACE_uc002jav.2_Missense_Mutation_p.E92K|ACE_uc002jaw.2_Non-coding_Transcript|ACE_uc010wpk.2_5'UTR NM_000789 NP_000780 P12821 ACE_HUMAN Homo sapiens angiotensin I converting enzyme (peptidyl-dipeptidase A) 1 (ACE), transcript variant 1, mRNA. 666 Peptidase M2 2. arachidonic acid secretion|hormone catabolic process|kidney development|peptide catabolic process|regulation of smooth muscle cell migration endosome|external side of plasma membrane|extracellular space|integral to membrane|membrane fraction|plasma membrane actin binding|bradykinin receptor binding|carboxypeptidase activity|chloride ion binding|drug binding|metallopeptidase activity|peptidyl-dipeptidase activity|zinc ion binding autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(3)|lung(22)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 51 Benazepril(DB00542)|Captopril(DB01197)|Deserpidine(DB01089)|Enalapril(DB00584)|Fosinopril(DB00492)|Lisinopril(DB00722)|Moexipril(DB00691)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Rescinnamine(DB01180)|Spirapril(DB01348)|Trandolapril(DB00519) GGTGTGGAACGAGTATGCCGA 0.562000 41 17 0 0 0.028581 0 0 RPSA 3921 broad.mit.edu 37 19 24010294 24010294 + Missense_Mutation SNP C G G TCGA-FS-A1YW-06A-11D-A197-08 TCGA-FS-A1YW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ede8a2a-405e-4689-967b-627bff0f1496 781d7787-9f92-4774-ac27-6c679bbd3387 g.chr19:24010294C>G uc002nrn.3 + 3 754 c.331C>G c.(331-333)Cag>Gag p.Q111E NM_002295 NP_002286 P08865 RSSA_HUMAN Homo sapiens ribosomal protein SA (RPSA), transcript variant 1, mRNA. 111 Interaction with PPP1R16B. cell adhesion|endocrine pancreas development|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 3'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|rRNA export from nucleus|ribosomal small subunit assembly|translational elongation|translational termination|viral transcription 90S preribosome|cytosolic small ribosomal subunit|nucleus|plasma membrane protein binding|receptor activity|ribosome binding|structural constituent of ribosome p.Q111E(12) endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1) 7 KIRC - Kidney renal clear cell carcinoma(284;0.0509)|Kidney(284;0.064) CTTCACTAACCAGATCCAGGC 0.567000 47 3 0 0 0.004672 0 0 SAMD3 154075 broad.mit.edu 37 6 130530752 130530752 + Splice_Site SNP A C C TCGA-FS-A1YW-06A-11D-A197-08 TCGA-FS-A1YW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ede8a2a-405e-4689-967b-627bff0f1496 781d7787-9f92-4774-ac27-6c679bbd3387 g.chr6:130530752A>C uc003qbw.3 - 5 598 c.270_splice c.e5-1 p.D90_splice SAMD3_uc003qbx.3_Splice_Site_p.D90_splice|SAMD3_uc010kfg.1_Splice_Site_p.D90_splice|SAMD3_uc003qby.3_Splice_Site_p.D90_splice|SAMD3_uc003qbz.1_Splice_Site_p.D49_splice NM_001017373 NP_001017373 Q8N6K7 SAMD3_HUMAN Homo sapiens sterile alpha motif domain containing 3 (SAMD3), transcript variant 1, mRNA. 90 breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(3)|lung(15)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 29 GBM - Glioblastoma multiforme(226;0.00594)|OV - Ovarian serous cystadenocarcinoma(155;0.128) TCATCCCTGTAACTAAGAAAG 0.468000 11 23 0 0 0.018920 0 0 WRN 7486 broad.mit.edu 37 8 31024688 31024688 + Missense_Mutation SNP C T T TCGA-FS-A1YW-06A-11D-A197-08 TCGA-FS-A1YW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ede8a2a-405e-4689-967b-627bff0f1496 781d7787-9f92-4774-ac27-6c679bbd3387 g.chr8:31024688C>T uc003xio.4 + 33 4921 c.4133C>T c.(4132-4134)tCt>tTt p.S1378F WRN_uc010lvk.3_Missense_Mutation_p.S845F NM_000553 NP_000544 Q14191 WRN_HUMAN Homo sapiens Werner syndrome, RecQ helicase-like (WRN), mRNA. 1378 DNA recombination|DNA synthesis involved in DNA repair|base-excision repair|cellular response to starvation|multicellular organismal aging|nucleolus to nucleoplasm transport|positive regulation of hydrolase activity|regulation of apoptosis|replication fork processing|response to UV-C|response to oxidative stress|telomere maintenance centrosome|nucleolus|nucleoplasm 3'-5' exonuclease activity|ATP binding|ATP-dependent 3'-5' DNA helicase activity|G-quadruplex DNA binding|Y-form DNA binding|bubble DNA binding|four-way junction helicase activity|magnesium ion binding|manganese ion binding|protein complex binding|protein homodimerization activity central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(13)|lung(28)|ovary(3)|skin(3)|upper_aerodigestive_tract(3) 60 Breast(100;0.195) KIRC - Kidney renal clear cell carcinoma(542;0.147)|Kidney(114;0.176)|Colorectal(111;0.192) TTTCCCGGTTCTGAAGAGATC 0.378000 """Mis, N, F, S""" """osteosarcoma, meningioma, others""" Genes defective in diseases associated with sensitivity to DNA damaging agents Werner syndrome 32 15 0 0 0.024245 0 0 LPPR1 54886 broad.mit.edu 37 9 104071546 104071546 + Missense_Mutation SNP G C C TCGA-FS-A1YW-06A-11D-A197-08 TCGA-FS-A1YW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ede8a2a-405e-4689-967b-627bff0f1496 781d7787-9f92-4774-ac27-6c679bbd3387 g.chr9:104071546G>C uc004bbb.3 + 4 838 c.439G>C c.(439-441)Gtg>Ctg p.V147L LPPR1_uc011lvi.2_Missense_Mutation_p.V123L|LPPR1_uc004bbc.3_Missense_Mutation_p.V147L|LPPR1_uc010mtc.3_Missense_Mutation_p.V131L NM_207299 NP_997182 Q8TBJ4 LPPR1_HUMAN Homo sapiens lipid phosphate phosphatase-related protein type 1 (LPPR1), transcript variant 1, mRNA. 147 integral to membrane catalytic activity CGCCGGACAAGTGGTCACTGG 0.428000 14 34 0 0 0.015359 0 0 OR51E2 81285 broad.mit.edu 37 11 4703075 4703075 + Silent SNP G A A TCGA-FS-A1YW-06A-11D-A197-08 TCGA-FS-A1YW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ede8a2a-405e-4689-967b-627bff0f1496 781d7787-9f92-4774-ac27-6c679bbd3387 g.chr11:4703075G>A uc001lzk.2 - 1 1111 c.867C>T c.(865-867)atC>atT p.I289I OR51E2_uc021qcr.1_Silent_p.I289I NM_030774 NP_110401 Q9H255 O51E2_HUMAN Homo sapiens olfactory receptor, family 51, subfamily E, member 2 (OR51E2), mRNA. 289 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(3) 23 Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577) Epithelial(150;3e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00476)|LUSC - Lung squamous cell carcinoma(625;0.2) CACCATAGATGATGGGATTGA 0.522000 36 30 0 0 0.007291 0 0 IPW 3653 broad.mit.edu 37 15 25331750 25331750 + RNA SNP C T T TCGA-FS-A1YW-06A-11D-A197-08 TCGA-FS-A1YW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ede8a2a-405e-4689-967b-627bff0f1496 781d7787-9f92-4774-ac27-6c679bbd3387 g.chr15:25331750C>T uc001yyb.4 + 2 c.359C>T IPW_uc001yxh.1_Intron|IPW_uc001yxm.1_Intron|IPW_uc001yxn.4_Intron|IPW_uc001yxy.3_Intron|IPW_uc001yyd.3_Intron|IPW_uc001yye.1_Non-coding_Transcript|SNORD116-20_uc001yyf.3_5'Flank Homo sapiens imprinted in Prader-Willi syndrome (non-protein coding) (IPW), non-coding RNA. CCGTCATCCTCGTCGAACTGA 0.468000 88 55 0 0 0.014410 0 0 abParts 0 broad.mit.edu 37 2 89327187 89327187 + Splice_Site SNP C T T TCGA-FS-A1YW-06A-11D-A197-08 TCGA-FS-A1YW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ede8a2a-405e-4689-967b-627bff0f1496 781d7787-9f92-4774-ac27-6c679bbd3387 g.chr2:89327187C>T uc021vkt.1 - 84 c.6446_splice c.e84-1 abParts_uc021vku.1_Intron Parts of antibodies, mostly variable regions. TCCATGGTTCCCTCTGGGTCC 0.557000 12 26 0 0 0.021523 0 0 ATP6V0A4 50617 broad.mit.edu 37 7 138437391 138437391 + Silent SNP C T T TCGA-FS-A1YW-06A-11D-A197-08 TCGA-FS-A1YW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ede8a2a-405e-4689-967b-627bff0f1496 781d7787-9f92-4774-ac27-6c679bbd3387 g.chr7:138437391C>T uc003vuf.3 - 9 1246 c.1008G>A c.(1006-1008)aaG>aaA p.K336K ATP6V0A4_uc003vug.3_Silent_p.K336K|ATP6V0A4_uc003vuh.3_Silent_p.K336K NM_130841 NP_570856 Q9HBG4 VPP4_HUMAN Homo sapiens ATPase, H+ transporting, lysosomal V0 subunit a4 (ATP6V0A4), transcript variant 3, mRNA. 336 cellular iron ion homeostasis|excretion|insulin receptor signaling pathway|ossification|regulation of pH|sensory perception of sound|transferrin transport apical plasma membrane|brush border membrane|endosome membrane|integral to membrane|proton-transporting two-sector ATPase complex, proton-transporting domain ATPase binding|hydrogen ion transmembrane transporter activity NS(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 36 CCAGTGCCCTCTTGATACGTG 0.602000 25 12 0 0 0.016723 0 0 DPYD 1806 broad.mit.edu 37 1 98144692 98144692 + Missense_Mutation SNP G A A TCGA-FS-A1YW-06A-11D-A197-08 TCGA-FS-A1YW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ede8a2a-405e-4689-967b-627bff0f1496 781d7787-9f92-4774-ac27-6c679bbd3387 g.chr1:98144692G>A uc001drv.3 - 7 946 c.809C>T c.(808-810)aCt>aTt p.T270I NM_000110 NP_000101 Q12882 DPYD_HUMAN Homo sapiens dihydropyrimidine dehydrogenase (DPYD), transcript variant 1, mRNA. 270 'de novo' pyrimidine base biosynthetic process|UMP biosynthetic process|purine base catabolic process|thymidine catabolic process|thymine catabolic process|uracil catabolic process cytosol 4 iron, 4 sulfur cluster binding|NADP binding|dihydroorotate oxidase activity|dihydropyrimidine dehydrogenase (NADP+) activity|electron carrier activity|flavin adenine dinucleotide binding|metal ion binding|protein homodimerization activity NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(18)|lung(30)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(1) 83 all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994) Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216) Capecitabine(DB01101)|Enfuvirtide(DB00109) TTCTTTCAAAGTGCTAAGAGT 0.264000 7 3 0 0 0.014758 0 0 HUWE1 10075 broad.mit.edu 37 X 53620471 53620471 + Silent SNP G A A TCGA-FS-A1YW-06A-11D-A197-08 TCGA-FS-A1YW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ede8a2a-405e-4689-967b-627bff0f1496 781d7787-9f92-4774-ac27-6c679bbd3387 g.chrX:53620471G>A uc004dsp.3 - 31 3996 c.3594C>T c.(3592-3594)ttC>ttT p.F1198F HUWE1_uc004dsn.3_Silent_p.F23F NM_031407 NP_113584 Q7Z6Z7 HUWE1_HUMAN Homo sapiens HECT, UBA and WWE domain containing 1 (HUWE1), mRNA. 1198 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 NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2) 153 AGGCATCTAGGAATTCTCCTG 0.498000 1 24 0 0 0.021523 0 0 OR6C74 254783 broad.mit.edu 37 12 55641256 55641256 + Missense_Mutation SNP G A A TCGA-FS-A1YW-06A-11D-A197-08 TCGA-FS-A1YW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ede8a2a-405e-4689-967b-627bff0f1496 781d7787-9f92-4774-ac27-6c679bbd3387 g.chr12:55641256G>A uc010spg.2 + 0 185 c.185G>A c.(184-186)cGa>cAa p.R62Q NM_001005490 NP_001005490 A6NCV1 O6C74_HUMAN Homo sapiens olfactory receptor, family 6, subfamily C, member 74 (OR6C74), mRNA. 62 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.R62Q(2) central_nervous_system(1)|large_intestine(3)|lung(7)|prostate(1) 12 TTCTTCCTCCGAAATTTCTCA 0.383000 74 59 0 0 0.014410 0 0 SCN11A 11280 broad.mit.edu 37 3 38921496 38921496 + Missense_Mutation SNP C T T TCGA-FS-A1YW-06A-11D-A197-08 TCGA-FS-A1YW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ede8a2a-405e-4689-967b-627bff0f1496 781d7787-9f92-4774-ac27-6c679bbd3387 g.chr3:38921496C>T uc021wvy.1 - 18 3537 c.3338G>A c.(3337-3339)gGa>gAa p.G1113E SCN11A_uc010hhn.1_Missense_Mutation_p.G191E NM_014139 NP_054858 Q9UI33 SCNBA_HUMAN Homo sapiens sodium channel, voltage-gated, type XI, alpha subunit (SCN11A), mRNA. 1113 response to drug voltage-gated sodium channel complex voltage-gated sodium channel activity p.G1113E(2) NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3) 119 Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226) Cocaine(DB00907) CTTTCCAAATCCGAAGGCTAC 0.398000 18 17 0 0 0.004990 0 0 CR2 1380 broad.mit.edu 37 1 207640026 207640026 + Missense_Mutation SNP G A A TCGA-FS-A1YW-06A-11D-A197-08 TCGA-FS-A1YW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ede8a2a-405e-4689-967b-627bff0f1496 781d7787-9f92-4774-ac27-6c679bbd3387 g.chr1:207640026G>A uc001hfw.3 + 1 333 c.214G>A c.(214-216)Gat>Aat p.D72N CR2_uc001hfv.3_Missense_Mutation_p.D72N|CR2_uc009xch.3_Missense_Mutation_p.D72N NM_001877 NP_001868 P20023 CR2_HUMAN Homo sapiens complement component (3d/Epstein Barr virus) receptor 2 (CR2), transcript variant 2, mRNA. 72 Sushi 1. complement activation, classical pathway|innate immune response integral to membrane|plasma membrane complement receptor activity|protein homodimerization activity NS(2)|breast(3)|endometrium(4)|kidney(3)|large_intestine(12)|lung(26)|ovary(1)|pancreas(1)|prostate(1)|skin(12)|upper_aerodigestive_tract(3)|urinary_tract(1) 69 AGACAAAGTGGATGGAACCTG 0.413000 49 23 0 0 0.018920 0 0 PCSK5 5125 broad.mit.edu 37 9 78638727 78638727 + Missense_Mutation SNP G A A TCGA-FS-A1YW-06A-11D-A197-08 TCGA-FS-A1YW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ede8a2a-405e-4689-967b-627bff0f1496 781d7787-9f92-4774-ac27-6c679bbd3387 g.chr9:78638727G>A uc004akc.2 + 3 1023 c.485G>A c.(484-486)gGa>gAa p.G162E PCSK5_uc004ajy.2_Missense_Mutation_p.G162E|PCSK5_uc004ajz.3_Missense_Mutation_p.G162E|PCSK5_uc004aka.3_Non-coding_Transcript NM_001190482 NP_001177411 Q92824 PCSK5_HUMAN Homo sapiens proprotein convertase subtilisin/kexin type 5 (PCSK5), transcript variant 1, mRNA. 162 Catalytic. anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release Golgi lumen|extracellular space|stored secretory granule peptide binding|serine-type endopeptidase activity p.T161T(1) NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3) 55 GGCTACACGGGAAAGAACATT 0.468000 15 42 0 0 0.007835 0 0 ZNF415 55786 broad.mit.edu 37 19 53611856 53611856 + Missense_Mutation SNP G A A TCGA-FS-A1YW-06A-11D-A197-08 TCGA-FS-A1YW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ede8a2a-405e-4689-967b-627bff0f1496 781d7787-9f92-4774-ac27-6c679bbd3387 g.chr19:53611856G>A uc002qax.3 - 6 1935 c.1586C>T c.(1585-1587)tCa>tTa p.S529L ZNF415_uc010yds.2_Missense_Mutation_p.S481L|ZNF415_uc010ydt.2_Missense_Mutation_p.S481L|ZNF415_uc002qau.3_Missense_Mutation_p.S468L|ZNF415_uc002qav.3_Missense_Mutation_p.S493L|ZNF415_uc002qaw.3_Missense_Mutation_p.S481L|ZNF415_uc002qay.3_Missense_Mutation_p.S468L|ZNF415_uc002qaz.3_Missense_Mutation_p.S529L|ZNF415_uc002qba.3_Missense_Mutation_p.S251L Q09FC8 ZN415_HUMAN Homo sapiens zinc finger protein 415 (ZNF415), transcript variant 4, non-coding RNA. 529 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|microtubule cytoskeleton|nucleolus DNA binding|zinc ion binding breast(1)|kidney(3)|large_intestine(8)|lung(11)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 31 GBM - Glioblastoma multiforme(134;0.0191) AGTTAGGCTTGAATGCACACT 0.433000 69 53 0 0 0.014410 0 0 CHEK2P2 646096 broad.mit.edu 37 15 20495408 20495408 + RNA SNP G A A rs2954587 by1000genomes TCGA-FS-A1YW-06A-11D-A197-08 TCGA-FS-A1YW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ede8a2a-405e-4689-967b-627bff0f1496 781d7787-9f92-4774-ac27-6c679bbd3387 g.chr15:20495408G>A uc001ytf.1 + 4 c.611G>A Homo sapiens checkpoint kinase 2 pseudogene 2 (CHEK2P2), non-coding RNA. TCTGTGTGAGGAAAATGAATC 0.388000 98 20 0 0 0.007413 0 0 PIGG 54872 broad.mit.edu 37 4 502700 502700 + Missense_Mutation SNP C T T TCGA-FS-A1YW-06A-11D-A197-08 TCGA-FS-A1YW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ede8a2a-405e-4689-967b-627bff0f1496 781d7787-9f92-4774-ac27-6c679bbd3387 g.chr4:502700C>T uc003gak.4 + 4 978 c.842C>T c.(841-843)tCc>tTc p.S281F PIGG_uc003gaj.4_Missense_Mutation_p.S281F|PIGG_uc011bux.2_Non-coding_Transcript|PIGG_uc010ibf.3_Missense_Mutation_p.S148F|PIGG_uc003gal.4_Missense_Mutation_p.S192F|PIGG_uc011buw.2_Missense_Mutation_p.S159F|PIGG_uc003gam.3_Missense_Mutation_p.S192F|PIGG_uc003gan.3_Missense_Mutation_p.S192F NM_001127178 NP_001120650 Q5H8A4 PIGG_HUMAN Homo sapiens phosphatidylinositol glycan anchor biosynthesis, class G (PIGG), transcript variant 1, mRNA. 281 C-terminal protein lipidation|preassembly of GPI anchor in ER membrane endoplasmic reticulum membrane|integral to membrane CP2 mannose-ethanolamine phosphotransferase activity breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 39 GGGGCCTCCTCCACCGAGGAG 0.443000 42 34 0 0 0.012213 0 0 INADL 10207 broad.mit.edu 37 1 62594552 62594552 + Missense_Mutation SNP G A A TCGA-FS-A1YW-06A-11D-A197-08 TCGA-FS-A1YW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ede8a2a-405e-4689-967b-627bff0f1496 781d7787-9f92-4774-ac27-6c679bbd3387 g.chr1:62594552G>A uc001dab.3 + 40 5320 c.5206G>A c.(5206-5208)Gat>Aat p.D1736N INADL_uc001dac.3_Non-coding_Transcript|INADL_uc009wag.3_Missense_Mutation_p.D520N NM_176877 NP_795352 Q8NI35 INADL_HUMAN Homo sapiens InaD-like (Drosophila) (INADL), mRNA. 1736 PDZ 10. intracellular signal transduction|tight junction assembly apical plasma membrane|perinuclear region of cytoplasm|tight junction protein binding breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(8)|liver(1)|lung(51)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(3) 103 GCAACCTTTGGATGGGCTGTC 0.453000 91 59 0 0 0.014410 0 0 ZNF880 400713 broad.mit.edu 37 19 52887585 52887585 + Missense_Mutation SNP G A A TCGA-FS-A1YW-06A-11D-A197-08 TCGA-FS-A1YW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ede8a2a-405e-4689-967b-627bff0f1496 781d7787-9f92-4774-ac27-6c679bbd3387 g.chr19:52887585G>A uc002pzc.3 + 3 801 c.752G>A c.(751-753)cGa>cAa p.R251Q ZNF880_uc021uyu.1_Missense_Mutation_p.R251Q|ZNF880_uc021uyv.1_5'Flank NM_001145434 NP_001138906 Q6PDB4 ZN880_HUMAN Homo sapiens zinc finger protein 880 (ZNF880), mRNA. 251 regulation of transcription, DNA-dependent intracellular nucleic acid binding|zinc ion binding breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(2)|skin(1) 10 CTCTTCAATCGAATTTCACTC 0.403000 11 14 0 0 0.024245 0 0 AV4S1 0 broad.mit.edu 37 14 22671215 22671215 + Missense_Mutation SNP C T T TCGA-FS-A1YW-06A-11D-A197-08 TCGA-FS-A1YW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ede8a2a-405e-4689-967b-627bff0f1496 781d7787-9f92-4774-ac27-6c679bbd3387 g.chr14:22671215C>T uc021rpv.1 + 1 270 c.235C>T c.(235-237)Cgt>Tgt p.R79C TCRA_uc001wbw.2_Intron|TCR-alpha_uc021rpg.1_Intron|AV2S1A1_uc010aiv.1_Intron|T-Cell_Receptor_V-alpha_region_uc021rpl.1_Intron|TCRA_uc010tmo.2_Intron|TCRA_uc001wco.3_Intron|TCRA_uc010aje.1_Intron|TCRA_uc001wcp.2_Intron|TCRA_uc001wcr.1_Intron|TCRA_uc001wcs.1_Intron|TCRA_uc010ajf.1_Intron|TCRA_uc001wcu.4_Intron|TCRA_uc021rpn.1_Intron|TCRA_uc001wcx.4_Intron|TCRA_uc021rpr.1_Intron|TCRA_uc001wdd.2_Intron|TCRA_uc010ajj.1_Intron|TCRA_uc001wde.1_Intron|TCRA_uc010ajk.2_Intron|TCRA_uc001wdg.1_Intron|TCRA_uc021rpt.1_Intron|TCRA_uc010ajl.1_Intron|AV4S1_uc010ajm.2_Non-coding_Transcript Homo sapiens mRNA for T cell receptor alpha variable 26, partial cds, clone: SEB 320. GATCCTGCACCGTGCTACCTT 0.502000 17 10 0 0 0.010729 0 0 NDUFV3 4731 broad.mit.edu 37 21 44323607 44323607 + Missense_Mutation SNP C T T TCGA-FS-A1YW-06A-11D-A197-08 TCGA-FS-A1YW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ede8a2a-405e-4689-967b-627bff0f1496 781d7787-9f92-4774-ac27-6c679bbd3387 g.chr21:44323607C>T uc002zcm.3 + 2 551 c.485C>T c.(484-486)tCt>tTt p.S162F NDUFV3_uc002zcn.3_Intron NM_021075 NP_066553 P56181 NDUV3_HUMAN Homo sapiens NADH dehydrogenase (ubiquinone) flavoprotein 3, 10kDa (NDUFV3), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA. 0 mitochondrial electron transport, NADH to ubiquinone|transport mitochondrial respiratory chain complex I|nucleus NADH dehydrogenase (ubiquinone) activity breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(2)|skin(1) 10 STAD - Stomach adenocarcinoma(101;0.0606) NADH(DB00157) TCCTCTGATTCTGAATCTGAT 0.522000 76 70 0 0 0.014410 0 0 ZSCAN2 54993 broad.mit.edu 37 15 85165085 85165085 + Silent SNP G A A TCGA-FS-A1YW-06A-11D-A197-08 TCGA-FS-A1YW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ede8a2a-405e-4689-967b-627bff0f1496 781d7787-9f92-4774-ac27-6c679bbd3387 g.chr15:85165085G>A uc002bkr.3 + 2 1885 c.1659G>A c.(1657-1659)ttG>ttA p.L553L ZSCAN2_uc010bmz.1_Silent_p.L551L|ZSCAN2_uc010bna.3_Silent_p.L403L|ZSCAN2_uc010uoz.1_Intron|ZSCAN2_uc010uox.1_Intron|ZSCAN2_uc010uoy.1_Intron NM_181877 NP_870992 Q7Z7L9 ZSCA2_HUMAN Homo sapiens zinc finger and SCAN domain containing 2 (ZSCAN2), transcript variant 1, mRNA. 553 cell differentiation|multicellular organismal development|spermatogenesis|viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(7)|liver(2)|lung(4)|ovary(1)|pancreas(1) 19 UCEC - Uterine corpus endometrioid carcinoma (272;0.168)|all cancers(203;5.43e-22) GAGCCCATTTGGGAGACAAGC 0.567000 77 56 0 0 0.014410 0 0 CLCN3 1182 broad.mit.edu 37 4 170601278 170601278 + Missense_Mutation SNP C T T TCGA-FS-A1YW-06A-11D-A197-08 TCGA-FS-A1YW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ede8a2a-405e-4689-967b-627bff0f1496 781d7787-9f92-4774-ac27-6c679bbd3387 g.chr4:170601278C>T uc003ish.3 + 2 797 c.238C>T c.(238-240)Cca>Tca p.P80S CLCN3_uc003isi.3_Missense_Mutation_p.P80S|CLCN3_uc011cka.2_Missense_Mutation_p.P80S|CLCN3_uc011cjz.2_Missense_Mutation_p.P63S|CLCN3_uc003isj.2_Missense_Mutation_p.P53S NM_173872 NP_776297 P51790 CLCN3_HUMAN Homo sapiens chloride channel 3 (CLCN3), transcript variant e, mRNA. 80 endosomal lumen acidification Golgi membrane|cell surface|early endosome membrane|integral to membrane|late endosome membrane|transport vesicle membrane ATP binding|PDZ domain binding|antiporter activity|protein heterodimerization activity|protein homodimerization activity|voltage-gated chloride channel activity breast(5)|endometrium(3)|large_intestine(8)|lung(8)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1) 29 Prostate(90;0.00601)|Renal(120;0.0183) GBM - Glioblastoma multiforme(119;0.0233)|LUSC - Lung squamous cell carcinoma(193;0.131) TGAACCAATTCCAGGTGTTGG 0.358000 22 23 0 0 0.021523 0 0 ZFP30 22835 broad.mit.edu 37 19 38126524 38126524 + Silent SNP G A A TCGA-FS-A1YW-06A-11D-A197-08 TCGA-FS-A1YW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ede8a2a-405e-4689-967b-627bff0f1496 781d7787-9f92-4774-ac27-6c679bbd3387 g.chr19:38126524G>A uc002ogv.1 - 5 1434 c.918C>T c.(916-918)gcC>gcT p.A306A ZFP30_uc002ogw.1_Silent_p.A306A|ZFP30_uc002ogx.1_Silent_p.A306A|ZFP30_uc010xtt.1_Silent_p.A305A NM_014898 NP_055713 Q9Y2G7 ZFP30_HUMAN Homo sapiens zinc finger protein 30 homolog (mouse) (ZFP30), mRNA. 306 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding autonomic_ganglia(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(1) 21 COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) TACACAGAAAGGCCTGACCAC 0.463000 61 51 0 0 0.014410 0 0 NOTCH3 4854 broad.mit.edu 37 19 15276755 15276755 + Missense_Mutation SNP C T T rs138265894 by1000genomes TCGA-FS-A1YW-06A-11D-A197-08 TCGA-FS-A1YW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ede8a2a-405e-4689-967b-627bff0f1496 781d7787-9f92-4774-ac27-6c679bbd3387 g.chr19:15276755C>T uc002nan.3 - 29 5586 c.5510G>A c.(5509-5511)cGt>cAt p.R1837H NM_000435 NP_000426 Q9UM47 NOTC3_HUMAN Homo sapiens notch 3 (NOTCH3), mRNA. 1837 Notch receptor processing|Notch signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent Golgi lumen|cytosol|endoplasmic reticulum lumen|extracellular region|integral to membrane|nucleoplasm|plasma membrane calcium ion binding|protein binding|receptor activity breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 93 OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15) CTCGCCAGTACGGTCAGTCCG 0.607000 28 11 0 0 0.010729 0 0 MKRN3 7681 broad.mit.edu 37 15 23811097 23811097 + Silent SNP C T T TCGA-FS-A1YW-06A-11D-A197-08 TCGA-FS-A1YW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ede8a2a-405e-4689-967b-627bff0f1496 781d7787-9f92-4774-ac27-6c679bbd3387 g.chr15:23811097C>T uc001ywh.4 + 0 644 c.168C>T c.(166-168)gcC>gcT p.A56A MKRN3_uc001ywi.3_Silent_p.A56A|MKRN3_uc010ayi.1_Silent_p.A56A NM_005664 NP_005655 Q13064 MKRN3_HUMAN Homo sapiens makorin ring finger protein 3 (MKRN3), mRNA. 56 ribonucleoprotein complex ligase activity|nucleic acid binding|zinc ion binding breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(33)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 61 all_cancers(20;8.44e-25)|all_epithelial(15;3.69e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000353)|Colorectal(260;0.14) all cancers(64;3.02e-06)|Epithelial(43;1.94e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0012) GGGGCTGGGCCCCCTTCCCTG 0.687000 28 12 0 0 0.010729 0 0 MUC5B 727897 broad.mit.edu 37 11 1267510 1267510 + Missense_Mutation SNP A T T TCGA-FS-A1YW-06A-11D-A197-08 TCGA-FS-A1YW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ede8a2a-405e-4689-967b-627bff0f1496 781d7787-9f92-4774-ac27-6c679bbd3387 g.chr11:1267510A>T uc001lta.3 + 30 9459 c.9400A>T c.(9400-9402)Atc>Ttc p.I3134F NM_002458 NP_002449 Q9HC84 MUC5B_HUMAN Homo sapiens mucin 5B, oligomeric mucus/gel-forming (MUC5B), mRNA. 3134 17 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich. Missing (in Ref. 6; AAB61398). cell adhesion extracellular region extracellular matrix structural constituent|protein binding cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1) 137 all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1) GACGACCTGGATCCTCACAGA 0.657000 71 30 0 0 0.008361 0 0 WDR53 348793 broad.mit.edu 37 3 196281400 196281400 + Silent SNP G A A TCGA-FS-A1YW-06A-11D-A197-08 TCGA-FS-A1YW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ede8a2a-405e-4689-967b-627bff0f1496 781d7787-9f92-4774-ac27-6c679bbd3387 g.chr3:196281400G>A uc003fwt.3 - 3 1230 c.759C>T c.(757-759)tcC>tcT p.S253S NM_182627 NP_872433 Q7Z5U6 WDR53_HUMAN Homo sapiens WD repeat domain 53 (WDR53), mRNA. 253 breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1) 13 all_cancers(143;8.88e-09)|Ovarian(172;0.0634)|Breast(254;0.135) Epithelial(36;1.6e-23)|all cancers(36;1.54e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.29e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06) GBM - Glioblastoma multiforme(46;0.00326) GCAGCAAATAGGATTCTGGGA 0.473000 61 38 0 0 0.025465 0 0 ARMC5 79798 broad.mit.edu 37 16 31476161 31476161 + Missense_Mutation SNP C T T TCGA-FS-A1YW-06A-11D-A197-08 TCGA-FS-A1YW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ede8a2a-405e-4689-967b-627bff0f1496 781d7787-9f92-4774-ac27-6c679bbd3387 g.chr16:31476161C>T uc010vfn.2 + 5 2226 c.2102C>T c.(2101-2103)cCg>cTg p.P701L ARMC5_uc010vfo.2_Missense_Mutation_p.P638L|ARMC5_uc002ecc.3_Missense_Mutation_p.P606L|ARMC5_uc002eca.4_Missense_Mutation_p.P606L|ARMC5_uc002ecb.2_Missense_Mutation_p.P606L|ARMC5_uc010vfp.2_Missense_Mutation_p.P414L NM_001105247 NP_001098717 Q96C12 ARMC5_HUMAN Homo sapiens armadillo repeat containing 5 (ARMC5), transcript variant 1, mRNA. 606 binding central_nervous_system(1)|endometrium(4)|large_intestine(3)|liver(2)|lung(12)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 28 GACGATTGGCCGGCACCACGT 0.701000 11 11 0 0 0.016723 0 0 OR10T2 128360 broad.mit.edu 37 1 158368849 158368849 + Silent SNP G A A TCGA-FS-A1YW-06A-11D-A197-08 TCGA-FS-A1YW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ede8a2a-405e-4689-967b-627bff0f1496 781d7787-9f92-4774-ac27-6c679bbd3387 g.chr1:158368849G>A uc010pih.2 - 0 408 c.408C>T c.(406-408)atC>atT p.I136I NM_001004475 NP_001004475 Q8NGX3 O10T2_HUMAN Homo sapiens olfactory receptor, family 10, subfamily T, member 2 (OR10T2), mRNA. 136 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.L135R(2) central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 34 all_hematologic(112;0.0378) TTTTGTTTATGATGAGTGTGT 0.453000 62 41 0 0 0.014410 0 0 SSH2 85464 broad.mit.edu 37 17 27959023 27959023 + Missense_Mutation SNP G C C TCGA-FS-A1YW-06A-11D-A197-08 TCGA-FS-A1YW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ede8a2a-405e-4689-967b-627bff0f1496 781d7787-9f92-4774-ac27-6c679bbd3387 g.chr17:27959023G>C uc002heo.1 - 14 3108 c.3108C>G c.(3106-3108)agC>agG p.S1036R SSH2_uc010wbh.1_Missense_Mutation_p.S1063R NM_033389 NP_203747 Q76I76 SSH2_HUMAN Homo sapiens slingshot homolog 2 (Drosophila) (SSH2), mRNA. 1036 actin cytoskeleton organization|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of lamellipodium assembly cytoplasm|cytoskeleton actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity SSH2/SUZ12(2) breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 39 CTTGCTCTCCGCTCTTCTCAC 0.478000 65 48 0 0 0.014410 0 0 GPR137C 283554 broad.mit.edu 37 14 53066835 53066835 + Silent SNP C T T TCGA-FS-A1YW-06A-11D-A197-08 TCGA-FS-A1YW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ede8a2a-405e-4689-967b-627bff0f1496 781d7787-9f92-4774-ac27-6c679bbd3387 g.chr14:53066835C>T uc001wzt.4 + 2 493 c.493C>T c.(493-495)Cta>Tta p.L165L GPR137C_uc001wzu.4_Silent_p.L165L NM_001099652 NP_001093122 Q8N3F9 G137C_HUMAN Homo sapiens G protein-coupled receptor 137C (GPR137C), mRNA. 165 integral to membrane NS(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1) 8 Breast(41;0.0716) TTTCAGAATTCTACTGCATTT 0.333000 45 44 0 0 0.011902 0 0 SDK2 54549 broad.mit.edu 37 17 71348646 71348646 + Silent SNP G A A TCGA-FS-A1YW-06A-11D-A197-08 TCGA-FS-A1YW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ede8a2a-405e-4689-967b-627bff0f1496 781d7787-9f92-4774-ac27-6c679bbd3387 g.chr17:71348646G>A uc010dfm.3 - 40 5724 c.5724C>T c.(5722-5724)ttC>ttT p.F1908F SDK2_uc002jjt.4_Silent_p.F1048F NM_001144952 NP_001138424 Q58EX2 SDK2_HUMAN Homo sapiens sidekick cell adhesion molecule 2 (SDK2), mRNA. 1908 Fibronectin type-III 13. cell adhesion integral to membrane breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(15)|lung(31)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 86 TGGGGGTGCCGAAACCATAGT 0.647000 14 24 0 0 0.027356 0 0 LRP3 4037 broad.mit.edu 37 19 33695571 33695571 + Silent SNP C T T TCGA-FS-A1YW-06A-11D-A197-08 TCGA-FS-A1YW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ede8a2a-405e-4689-967b-627bff0f1496 781d7787-9f92-4774-ac27-6c679bbd3387 g.chr19:33695571C>T uc010edh.3 + 3 381 c.288C>T c.(286-288)tcC>tcT p.S96S LRP3_uc010xrp.1_5'UTR|LRP3_uc002nuk.4_5'UTR NM_002333 NP_002324 O75074 LRP3_HUMAN Homo sapiens low density lipoprotein receptor-related protein 3 (LRP3), mRNA. 96 CUB 1. receptor-mediated endocytosis coated pit|integral to membrane receptor activity breast(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)|pancreas(2) 15 Esophageal squamous(110;0.137) TGGAGGAGTCCCACCAGTGCT 0.672000 68 48 0 0 0.014410 0 0 OR5B21 219968 broad.mit.edu 37 11 58275040 58275040 + Missense_Mutation SNP G A A rs140880239 by1000genomes TCGA-FS-A1YW-06A-11D-A197-08 TCGA-FS-A1YW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ede8a2a-405e-4689-967b-627bff0f1496 781d7787-9f92-4774-ac27-6c679bbd3387 g.chr11:58275040G>A uc010rki.2 - 0 539 c.539C>T c.(538-540)cCc>cTc p.P180L NM_001005218 NP_001005218 A6NL26 OR5BL_HUMAN Homo sapiens olfactory receptor, family 5, subfamily B, member 21 (OR5B21), mRNA. 180 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(16)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 Esophageal squamous(5;0.0027) Breast(21;0.0778) CAGGAGTGGGGGAATGTCACA 0.483000 25 16 0 0 0.024245 0 0 ZNF227 7770 broad.mit.edu 37 19 44739804 44739804 + Silent SNP C T T TCGA-FS-A1YW-06A-11D-A197-08 TCGA-FS-A1YW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ede8a2a-405e-4689-967b-627bff0f1496 781d7787-9f92-4774-ac27-6c679bbd3387 g.chr19:44739804C>T uc002oyu.3 + 5 1426 c.1221C>T c.(1219-1221)ccC>ccT p.P407P ZNF227_uc010xwu.2_Silent_p.P356P|ZNF227_uc002oyv.3_Silent_p.P407P|ZNF227_uc010xwv.2_Silent_p.P356P|ZNF227_uc010xww.2_Silent_p.P328P|ZNF227_uc002oyw.3_Silent_p.P379P|ZNF227_uc010ejh.3_Silent_p.P400P|ZNF235_uc002oyx.1_Intron NM_182490 NP_872296 Q86WZ6 ZN227_HUMAN Homo sapiens zinc finger protein 227 (ZNF227), mRNA. 407 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(12)|ovary(2)|stomach(1)|urinary_tract(1) 24 Prostate(69;0.0435) GTGAGAAGCCCTATAAATGTG 0.478000 29 28 0 0 0.027356 0 0 B3GNT3 10331 broad.mit.edu 37 19 17922801 17922801 + Missense_Mutation SNP C T T TCGA-FS-A1YW-06A-11D-A197-08 TCGA-FS-A1YW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ede8a2a-405e-4689-967b-627bff0f1496 781d7787-9f92-4774-ac27-6c679bbd3387 g.chr19:17922801C>T uc002nhl.1 + 2 1136 c.989C>T c.(988-990)tCc>tTc p.S330F B3GNT3_uc010ebd.1_Missense_Mutation_p.S330F|B3GNT3_uc010ebe.1_Missense_Mutation_p.S330F NM_014256 NP_055071 Q9Y2A9 B3GN3_HUMAN Homo sapiens UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 3 (B3GNT3), mRNA. 330 protein glycosylation Golgi membrane|integral to plasma membrane galactosyltransferase activity breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1) 21 CAACGCCTGTCCTCCTTTGAC 0.607000 113 57 0 0 0.014410 0 0 CLVS1 157807 broad.mit.edu 37 8 62212398 62212398 + Silent SNP C T T TCGA-FS-A1YW-06A-11D-A197-08 TCGA-FS-A1YW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ede8a2a-405e-4689-967b-627bff0f1496 781d7787-9f92-4774-ac27-6c679bbd3387 g.chr8:62212398C>T uc003xuh.3 + 1 336 c.12C>T c.(10-12)gtC>gtT p.V4V CLVS1_uc003xug.2_Silent_p.V4V|CLVS1_uc003xui.3_Intron NM_173519 NP_775790 Q8IUQ0 CLVS1_HUMAN Homo sapiens clavesin 1 (CLVS1), mRNA. 4 lysosome organization clathrin-coated vesicle|early endosome membrane|trans-Golgi network phosphatidylinositol-3,5-bisphosphate binding|transporter activity endometrium(3)|kidney(4)|large_intestine(4)|lung(21)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 41 TGGGACCAGTCTCTCTTCTTC 0.463000 47 10 0 0 0.010729 0 0 ITIH1 3697 broad.mit.edu 37 3 52825798 52825798 + Splice_Site SNP G A A TCGA-FS-A1YW-06A-11D-A197-08 TCGA-FS-A1YW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ede8a2a-405e-4689-967b-627bff0f1496 781d7787-9f92-4774-ac27-6c679bbd3387 g.chr3:52825798G>A uc003dfs.3 + 22 2637 c.2607_splice c.e22-1 p.R869_splice ITIH1_uc010hmn.2_Splice_Site|ITIH1_uc021wzf.1_Splice_Site_p.R727_splice|ITIH1_uc021wzg.1_Splice_Site_p.R581_splice|ITIH1_uc021wzh.1_Splice_Site_p.R581_splice|ITIH1_uc003dft.3_Splice_Site_p.G461_splice|ITIH3_uc003dfv.2_5'Flank|ITIH3_uc011bek.1_5'Flank NM_002215 NP_002206 P19827 ITIH1_HUMAN Homo sapiens inter-alpha-trypsin inhibitor heavy chain 1 (ITIH1), transcript variant 1, mRNA. 869 Hyaluronan-binding. hyaluronan metabolic process|leukocyte activation extracellular region calcium ion binding|serine-type endopeptidase inhibitor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(16)|lung(18)|ovary(4)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 52 BRCA - Breast invasive adenocarcinoma(193;7.04e-05)|Kidney(197;0.000659)|KIRC - Kidney renal clear cell carcinoma(197;0.000795)|OV - Ovarian serous cystadenocarcinoma(275;0.0498) CTCTGCACAGGGGTTTGCAAA 0.587000 21 9 0 0 0.004482 0 0 ABLIM3 22885 broad.mit.edu 37 5 148619383 148619383 + Missense_Mutation SNP C T T TCGA-FS-A1YW-06A-11D-A197-08 TCGA-FS-A1YW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ede8a2a-405e-4689-967b-627bff0f1496 781d7787-9f92-4774-ac27-6c679bbd3387 g.chr5:148619383C>T uc003lpy.2 + 12 1387 c.1136C>T c.(1135-1137)tCc>tTc p.S379F ABLIM3_uc003lpz.1_Missense_Mutation_p.S379F|ABLIM3_uc003lqa.1_Missense_Mutation_p.S325F|ABLIM3_uc003lqb.3_Missense_Mutation_p.S317F|ABLIM3_uc003lqc.1_Missense_Mutation_p.S379F|ABLIM3_uc003lqd.1_Missense_Mutation_p.S317F|ABLIM3_uc003lqe.1_Missense_Mutation_p.S317F|ABLIM3_uc003lqf.3_Missense_Mutation_p.S317F NM_014945 NP_055760 O94929 ABLM3_HUMAN Homo sapiens actin binding LIM protein family, member 3 (ABLIM3), mRNA. 379 axon guidance|cytoskeleton organization cytoplasm actin binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TACATAGACTCCCCCACCTAC 0.627000 56 36 0 0 0.021022 0 0 SPHKAP 80309 broad.mit.edu 37 2 228886527 228886527 + Silent SNP C T T TCGA-FS-A1YW-06A-11D-A197-08 TCGA-FS-A1YW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ede8a2a-405e-4689-967b-627bff0f1496 781d7787-9f92-4774-ac27-6c679bbd3387 g.chr2:228886527C>T uc002vpq.2 - 5 644 c.597G>A c.(595-597)ctG>ctA p.L199L SPHKAP_uc002vpp.2_Silent_p.L199L|SPHKAP_uc010zlx.1_Silent_p.L199L NM_001142644 NP_001136116 Q2M3C7 SPKAP_HUMAN Homo sapiens SPHK1 interactor, AKAP domain containing (SPHKAP), transcript variant 1, mRNA. 199 cytoplasm protein binding NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 185 Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23) Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232) TGTCATCCTCCAGTTTCAAGA 0.463000 17 21 0 0 0.012319 0 0 PTPRC 5788 broad.mit.edu 37 1 198682180 198682180 + Missense_Mutation SNP C T T rs142046206 TCGA-FS-A1YW-06A-11D-A197-08 TCGA-FS-A1YW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ede8a2a-405e-4689-967b-627bff0f1496 781d7787-9f92-4774-ac27-6c679bbd3387 g.chr1:198682180C>T uc001gur.1 + 11 1444 c.1264C>T c.(1264-1266)Ctc>Ttc p.L422F PTPRC_uc001gut.1_Missense_Mutation_p.L261F|PTPRC_uc009wzf.1_Missense_Mutation_p.L310F|PTPRC_uc021pgy.1_Missense_Mutation_p.L376F|PTPRC_uc010ppg.1_Missense_Mutation_p.L358F NM_002838 NP_002829 P08575 PTPRC_HUMAN Homo sapiens protein tyrosine phosphatase, receptor type, C (PTPRC), transcript variant 1, mRNA. 422 Fibronectin type-III 1. B cell proliferation|B cell receptor signaling pathway|T cell differentiation|T cell receptor signaling pathway|axon guidance|defense response to virus|immunoglobulin biosynthetic process|negative regulation of T cell mediated cytotoxicity|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|positive regulation of B cell proliferation|positive regulation of T cell proliferation|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of protein kinase activity|regulation of S phase|release of sequestered calcium ion into cytosol focal adhesion|integral to plasma membrane|membrane raft protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3) 111 TAATTTTACCCTCTGTTATAT 0.333000 63 19 0 0 0.012319 0 0 SLC28A2 9153 broad.mit.edu 37 15 45561731 45561731 + Missense_Mutation SNP T A A TCGA-FS-A1YW-06A-11D-A197-08 TCGA-FS-A1YW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ede8a2a-405e-4689-967b-627bff0f1496 781d7787-9f92-4774-ac27-6c679bbd3387 g.chr15:45561731T>A uc001zva.2 + 13 1629 c.1564T>A c.(1564-1566)Tct>Act p.S522T NM_004212 NP_004203 O43868 S28A2_HUMAN Homo sapiens solute carrier family 28 (sodium-coupled nucleoside transporter), member 2 (SLC28A2), mRNA. 522 nucleobase, nucleoside and nucleotide metabolic process integral to plasma membrane|membrane fraction nucleoside binding|nucleoside:sodium symporter activity|purine nucleoside transmembrane transporter activity NS(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(4)|skin(1) 26 all_cancers(109;8.53e-07)|all_epithelial(112;1.39e-05)|Lung NSC(122;8.3e-05)|all_lung(180;0.000547)|Melanoma(134;0.0417) all cancers(107;3.77e-16)|GBM - Glioblastoma multiforme(94;2.71e-06) ACAGTGGATTTCTGTAAGTGA 0.438000 17 17 0 0 0.028581 0 0 FGL1 2267 broad.mit.edu 37 8 17739657 17739657 + Missense_Mutation SNP C T T rs140117264 TCGA-FS-A1YW-06A-11D-A197-08 TCGA-FS-A1YW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ede8a2a-405e-4689-967b-627bff0f1496 781d7787-9f92-4774-ac27-6c679bbd3387 g.chr8:17739657C>T uc003wye.3 - 4 911 c.245G>A c.(244-246)cGg>cAg p.R82Q FGL1_uc003wxx.3_Missense_Mutation_p.R32Q|FGL1_uc003wxy.3_Missense_Mutation_p.R32Q|FGL1_uc003wya.3_Missense_Mutation_p.R32Q|FGL1_uc003wyb.3_Missense_Mutation_p.R32Q NM_201553 NP_963847 Q08830 FGL1_HUMAN Homo sapiens fibrinogen-like 1 (FGL1), transcript variant 4, mRNA. 32 Fibrinogen C-terminal. signal transduction fibrinogen complex receptor binding NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4) 13 Colorectal(111;0.0573)|COAD - Colon adenocarcinoma(73;0.215) GGCTCTGAGCCGCATCTGCTC 0.493000 47 23 0 0 0.021523 0 0 SH3TC1 54436 broad.mit.edu 37 4 8217959 8217959 + Silent SNP C T T TCGA-FS-A1YW-06A-11D-A197-08 TCGA-FS-A1YW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ede8a2a-405e-4689-967b-627bff0f1496 781d7787-9f92-4774-ac27-6c679bbd3387 g.chr4:8217959C>T uc003gkv.4 + 5 704 c.603C>T c.(601-603)acC>acT p.T201T SH3TC1_uc003gkw.4_Silent_p.T125T|SH3TC1_uc003gkx.4_Non-coding_Transcript NM_018986 NP_061859 Q8TE82 S3TC1_HUMAN Homo sapiens SH3 domain and tetratricopeptide repeats 1 (SH3TC1), mRNA. 201 binding NS(1)|breast(3)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 33 TAAGGCTGACCCACGAGAGCC 0.612000 20 18 0 0 0.004990 0 0 PLEKHG2 64857 broad.mit.edu 37 19 39914442 39914442 + Missense_Mutation SNP C T T rs34762911 byFrequency TCGA-FS-A1YW-06A-11D-A197-08 TCGA-FS-A1YW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ede8a2a-405e-4689-967b-627bff0f1496 781d7787-9f92-4774-ac27-6c679bbd3387 g.chr19:39914442C>T uc010xuz.2 + 18 2994 c.2669C>T c.(2668-2670)tCt>tTt p.S890F PLEKHG2_uc010xuy.2_Missense_Mutation_p.S831F|PLEKHG2_uc002olj.3_Intron|PLEKHG2_uc010xva.2_Missense_Mutation_p.S668F NM_022835 NP_073746 Q9H7P9 PKHG2_HUMAN Homo sapiens pleckstrin homology domain containing, family G (with RhoGef domain) member 2 (PLEKHG2), mRNA. 890 apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol Rho guanyl-nucleotide exchange factor activity breast(3)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(2)|liver(1)|lung(13)|pancreas(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 40 all_cancers(60;3.08e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;6.57e-07)|Ovarian(47;0.0569) Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657) GCCCAGGAGTCTGTCCCCCTG 0.577000 41 34 0 0 0.012213 0 0 CTR9 9646 broad.mit.edu 37 11 10794192 10794192 + Missense_Mutation SNP T C C TCGA-FS-A1YW-06A-11D-A197-08 TCGA-FS-A1YW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ede8a2a-405e-4689-967b-627bff0f1496 781d7787-9f92-4774-ac27-6c679bbd3387 g.chr11:10794192T>C uc001mja.3 + 19 2719 c.2570T>C c.(2569-2571)cTt>cCt p.L857P NM_014633 NP_055448 Q6PD62 CTR9_HUMAN Homo sapiens Ctr9, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae) (CTR9), mRNA. 857 Lys-rich. histone H2B ubiquitination|histone monoubiquitination Cdc73/Paf1 complex|nuclear speck breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(12)|ovary(2)|pancreas(1)|stomach(1) 40 all cancers(16;1.64e-07)|Epithelial(150;2.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111) CAGAAACTTCTTAAAGAACAG 0.443000 20 15 0 0 0.028581 0 0 SLC13A5 284111 broad.mit.edu 37 17 6599122 6599122 + Silent SNP C T T TCGA-FS-A1YW-06A-11D-A197-08 TCGA-FS-A1YW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ede8a2a-405e-4689-967b-627bff0f1496 781d7787-9f92-4774-ac27-6c679bbd3387 g.chr17:6599122C>T uc002gdj.3 - 6 1066 c.978G>A c.(976-978)ctG>ctA p.L326L SLC13A5_uc010clq.3_Silent_p.L283L|SLC13A5_uc002gdk.3_Silent_p.L309L|SLC13A5_uc010vtf.2_Silent_p.L326L|SLC13A5_uc002gdl.1_Silent_p.L308L NM_177550 NP_808218 Q86YT5 S13A5_HUMAN Homo sapiens solute carrier family 13 (sodium-dependent citrate transporter), member 5 (SLC13A5), transcript variant 1, mRNA. 326 integral to membrane citrate transmembrane transporter activity breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|prostate(5)|skin(3)|urinary_tract(1) 26 ACAGGATGACCAGCAGGAAGA 0.567000 19 83 0 0 0.014410 0 0 CIB3 117286 broad.mit.edu 37 19 16275623 16275623 + Missense_Mutation SNP C T T TCGA-FS-A1YW-06A-11D-A197-08 TCGA-FS-A1YW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ede8a2a-405e-4689-967b-627bff0f1496 781d7787-9f92-4774-ac27-6c679bbd3387 g.chr19:16275623C>T uc002nds.3 - 4 448 c.448G>A c.(448-450)Gag>Aag p.E150K CIB3_uc010eae.3_Missense_Mutation_p.E89K|CIB3_uc010eaf.3_Non-coding_Transcript|CIB3_uc010eag.3_Missense_Mutation_p.E101K NM_054113 NP_473454 Q96Q77 CIB3_HUMAN Homo sapiens calcium and integrin binding family member 3 (CIB3), mRNA. 150 EF-hand 3. calcium ion binding cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|skin(2) 16 AGCACCTTCTCACATACCAGG 0.572000 36 32 0 0 0.009535 0 0 ECSIT 51295 broad.mit.edu 37 19 11623974 11623974 + Missense_Mutation SNP G A A TCGA-FS-A1YW-06A-11D-A197-08 TCGA-FS-A1YW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ede8a2a-405e-4689-967b-627bff0f1496 781d7787-9f92-4774-ac27-6c679bbd3387 g.chr19:11623974G>A uc002msb.3 - 3 769 c.635C>T c.(634-636)cCc>cTc p.P212L ECSIT_uc010dyc.2_Missense_Mutation_p.P212L|ECSIT_uc010dyd.3_Missense_Mutation_p.P212L|ECSIT_uc010xma.2_Intron NM_016581 NP_057665 Q9BQ95 ECSIT_HUMAN Homo sapiens ECSIT homolog (Drosophila) (ECSIT), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA. 212 innate immune response|regulation of oxidoreductase activity mitochondrion oxidoreductase activity, acting on NADH or NADPH|protein binding kidney(2)|large_intestine(3)|lung(1)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1) 11 CACTGGGAAGGGGTTGACGTT 0.587000 42 25 0 0 0.016522 0 0 PLEKHG4B 153478 broad.mit.edu 37 5 163580 163580 + Silent SNP C T T TCGA-FS-A1YW-06A-11D-A197-08 TCGA-FS-A1YW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ede8a2a-405e-4689-967b-627bff0f1496 781d7787-9f92-4774-ac27-6c679bbd3387 g.chr5:163580C>T uc003jak.2 + 10 2375 c.2325C>T c.(2323-2325)agC>agT p.S775S NM_052909 NP_443141 Q96PX9 PKH4B_HUMAN Homo sapiens pleckstrin homology domain containing, family G (with RhoGef domain) member 4B (PLEKHG4B), mRNA. 775 regulation of Rho protein signal transduction intracellular Rho guanyl-nucleotide exchange factor activity endometrium(1)|large_intestine(2)|lung(2)|prostate(3)|skin(3) 11 all cancers(22;0.0253)|Lung(60;0.113) Kidney(1;0.119) ATGCCAGGAGCCCCCCGGTCA 0.652000 26 17 0 0 0.028581 0 0 CDH8 1006 broad.mit.edu 37 16 61935342 61935342 + Silent SNP G A A TCGA-FS-A1YW-06A-11D-A197-08 TCGA-FS-A1YW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ede8a2a-405e-4689-967b-627bff0f1496 781d7787-9f92-4774-ac27-6c679bbd3387 g.chr16:61935342G>A uc002eog.2 - 2 1243 c.288C>T c.(286-288)atC>atT p.I96I NM_001796 NP_001787 P55286 CADH8_HUMAN Homo sapiens cadherin 8, type 2 (CDH8), mRNA. 96 Cadherin 1. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4) 112 Ovarian(137;0.0799)|Melanoma(118;0.16) UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249) GGATATACTTGATTTTTTTGC 0.378000 39 17 0 0 0.004990 0 0 KALRN 8997 broad.mit.edu 37 3 124438176 124438176 + Silent SNP C T T TCGA-FS-A1YW-06A-11D-A197-08 TCGA-FS-A1YW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ede8a2a-405e-4689-967b-627bff0f1496 781d7787-9f92-4774-ac27-6c679bbd3387 g.chr3:124438176C>T uc003ehg.3 + 59 8947 c.8820C>T c.(8818-8820)ccC>ccT p.P2940P KALRN_uc003ehk.3_Silent_p.P1243P NM_001024660 NP_001019831 O60229 KALRN_HUMAN Homo sapiens kalirin, RhoGEF kinase (KALRN), transcript variant 1, mRNA. 2939 apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport actin cytoskeleton|cytosol ATP binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|metal ion binding|protein binding|protein serine/threonine kinase activity NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 83 GGCTGCAGCCCCATAATGGCA 0.532000 48 21 0 0 0.010504 0 0 HDAC9 9734 broad.mit.edu 37 7 18629971 18629971 + Missense_Mutation SNP C A A TCGA-FS-A1YW-06A-11D-A197-08 TCGA-FS-A1YW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ede8a2a-405e-4689-967b-627bff0f1496 781d7787-9f92-4774-ac27-6c679bbd3387 g.chr7:18629971C>A uc003sui.3 + 2 318 c.277C>A c.(277-279)Ctt>Att p.L93I HDAC9_uc003sue.3_Missense_Mutation_p.L90I|HDAC9_uc011jyd.2_Missense_Mutation_p.L90I|HDAC9_uc003suh.3_Missense_Mutation_p.L90I|HDAC9_uc003suj.3_Missense_Mutation_p.L93I|HDAC9_uc011jya.2_Missense_Mutation_p.L132I|HDAC9_uc003sua.1_Missense_Mutation_p.L112I|HDAC9_uc003sud.2_Missense_Mutation_p.L90I|HDAC9_uc011jyc.2_Missense_Mutation_p.L93I|HDAC9_uc011jyb.2_Missense_Mutation_p.L90I|HDAC9_uc003suf.2_Missense_Mutation_p.L121I|HDAC9_uc010kud.2_Missense_Mutation_p.L93I|HDAC9_uc011jye.2_Missense_Mutation_p.L62I|HDAC9_uc011jyf.2_Missense_Mutation_p.L59I|HDAC9_uc010kue.1_5'UTR NM_178425 NP_848512 Q9UKV0 HDAC9_HUMAN Homo sapiens histone deacetylase 9 (HDAC9), transcript variant 5, mRNA. 90 B cell differentiation|cellular response to insulin stimulus|heart development|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|positive regulation of cell migration involved in sprouting angiogenesis|regulation of skeletal muscle fiber development|transcription, DNA-dependent cytoplasm|histone deacetylase complex|histone methyltransferase complex|transcription factor complex NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|protein binding|protein kinase C binding|repressing transcription factor binding|transcription corepressor activity p.L93I(3)|p.L90I(1) breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|liver(2)|lung(37)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 82 all_lung(11;0.187) Valproic Acid(DB00313) GCAACAGGAACTTCTAGCCAT 0.433000 19 18 9.7654e-05 0.000134668 0.007413 1 0 BC128131 0 broad.mit.edu 37 19 23159477 23159477 + Missense_Mutation SNP A T T TCGA-FS-A1YW-06A-11D-A197-08 TCGA-FS-A1YW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ede8a2a-405e-4689-967b-627bff0f1496 781d7787-9f92-4774-ac27-6c679bbd3387 g.chr19:23159477A>T uc002nqz.1 - 1 496 c.470T>A c.(469-471)aTt>aAt p.I157N BC128131_uc002nqy.1_Non-coding_Transcript Homo sapiens zinc finger protein 117, mRNA (cDNA clone IMAGE:40112371). TCCAGTATGAATTCTCTTATA 0.363000 13 14 0 0 0.020292 0 0 GLRB 2743 broad.mit.edu 37 4 158057765 158057765 + Missense_Mutation SNP G A A TCGA-FS-A1YW-06A-11D-A197-08 TCGA-FS-A1YW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ede8a2a-405e-4689-967b-627bff0f1496 781d7787-9f92-4774-ac27-6c679bbd3387 g.chr4:158057765G>A uc003ipj.2 + 4 644 c.442G>A c.(442-444)Gaa>Aaa p.E148K GLRB_uc021xtp.1_Missense_Mutation_p.E148K|GLRB_uc021xtq.1_Missense_Mutation_p.E148K NM_000824 NP_001159532 P48167 GLRB_HUMAN Homo sapiens glycine receptor, beta (GLRB), transcript variant 1, mRNA. 148 nervous system development|neuropeptide signaling pathway|startle response cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane extracellular-glycine-gated chloride channel activity|protein binding|receptor activity central_nervous_system(1)|endometrium(3)|large_intestine(11)|lung(6)|skin(5)|upper_aerodigestive_tract(1) 27 all_hematologic(180;0.24) Renal(120;0.0458) KIRC - Kidney renal clear cell carcinoma(143;0.0564)|COAD - Colon adenocarcinoma(41;0.0642)|Kidney(143;0.0707) Glycine(DB00145) TTTTGCAAATGAAAAAAGTGC 0.393000 75 48 0 0 0.014410 0 0 PCDHB2 56133 broad.mit.edu 37 5 140475273 140475273 + Missense_Mutation SNP C T T TCGA-FS-A1YW-06A-11D-A197-08 TCGA-FS-A1YW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ede8a2a-405e-4689-967b-627bff0f1496 781d7787-9f92-4774-ac27-6c679bbd3387 g.chr5:140475273C>T uc003lil.3 + 0 1037 c.899C>T c.(898-900)tCg>tTg p.S300L PCDHB2_uc003lim.1_5'UTR NM_018936 NP_061759 Q9Y5E7 PCDB2_HUMAN Homo sapiens protocadherin beta 2 (PCDHB2), mRNA. 300 Cadherin 3. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to plasma membrane calcium ion binding p.S300*(2) NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(22)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2) 71 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) AGTGCAAAATCGGGAGAACTG 0.413000 55 28 0 0 0.006320 0 0 TXNDC2 84203 broad.mit.edu 37 18 9887014 9887014 + Missense_Mutation SNP C T T TCGA-FS-A1YW-06A-11D-A197-08 TCGA-FS-A1YW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ede8a2a-405e-4689-967b-627bff0f1496 781d7787-9f92-4774-ac27-6c679bbd3387 g.chr18:9887014C>T uc002koi.4 + 1 987 c.538C>T c.(538-540)Ccc>Tcc p.P180S TXNDC2_uc002koh.4_Missense_Mutation_p.P113S|TXNDC2_uc021ugx.1_Missense_Mutation_p.P113S NM_001098529 NP_115619 Q86VQ3 TXND2_HUMAN Homo sapiens thioredoxin domain containing 2 (spermatozoa) (TXNDC2), transcript variant 2, mRNA. 180 22 X 15 AA approximate tandem repeat of Q-P-K-X-G-D-I-P-K-S-[PS]-E-[KE]-X-I. cell differentiation|cell redox homeostasis|glycerol ether metabolic process|multicellular organismal development|spermatogenesis cytoplasm electron carrier activity|nutrient reservoir activity|protein disulfide oxidoreductase activity|thioredoxin-disulfide reductase activity NS(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|skin(7)|urinary_tract(1) 31 GGGTGACATCCCCAAGGCCCC 0.567000 82 46 0 0 0.010771 0 0 DNAH5 1767 broad.mit.edu 37 5 13885323 13885323 + Missense_Mutation SNP C T T TCGA-FS-A1YW-06A-11D-A197-08 TCGA-FS-A1YW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ede8a2a-405e-4689-967b-627bff0f1496 781d7787-9f92-4774-ac27-6c679bbd3387 g.chr5:13885323C>T uc003jfd.2 - 18 2800 c.2758G>A c.(2758-2760)Gga>Aga p.G920R NM_001369 NP_001360 Q8TE73 DYH5_HUMAN Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA. 920 Stem (By similarity). microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8) 378 Lung NSC(4;0.00476) TCAAAATTTCCTTCTTCTCTT 0.383000 Kartagener syndrome 30 11 0 0 0.010729 0 0 PCDHB9 56127 broad.mit.edu 37 5 140567380 140567380 + Missense_Mutation SNP G T T TCGA-FS-A1YW-06A-11D-A197-08 TCGA-FS-A1YW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ede8a2a-405e-4689-967b-627bff0f1496 781d7787-9f92-4774-ac27-6c679bbd3387 g.chr5:140567380G>T uc003liw.1 + 0 488 c.488G>T c.(487-489)gGt>gTt p.G163V NM_019119 NP_061992 Q9Y5E1 PCDB9_HUMAN Homo sapiens protocadherin beta 9 (PCDHB9), mRNA. 163 Cadherin 2. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to membrane|plasma membrane calcium ion binding KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) CCAGATGAAGGTCATAACAGT 0.398000 110 73 6.30617e-38 8.91202e-38 0.014410 1 0 PLEKHH1 57475 broad.mit.edu 37 14 68028700 68028700 + Silent SNP C T T TCGA-FS-A1YW-06A-11D-A197-08 TCGA-FS-A1YW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ede8a2a-405e-4689-967b-627bff0f1496 781d7787-9f92-4774-ac27-6c679bbd3387 g.chr14:68028700C>T uc001xjl.1 + 5 595 c.453C>T c.(451-453)agC>agT p.S151S NM_020715 NP_065766 Q9ULM0 PKHH1_HUMAN Homo sapiens pleckstrin homology domain containing, family H (with MyTH4 domain) member 1 (PLEKHH1), mRNA. 151 cytoskeleton binding endometrium(2)|kidney(4)|lung(12)|urinary_tract(1) 19 all cancers(60;0.000771)|OV - Ovarian serous cystadenocarcinoma(108;0.00502)|BRCA - Breast invasive adenocarcinoma(234;0.011) ATCTGAAAAGCCATAATCAGC 0.468000 26 26 0 0 0.027356 0 0 KCNK9 51305 broad.mit.edu 37 8 140630869 140630869 + Missense_Mutation SNP C T T TCGA-FS-A1YW-06A-11D-A197-08 TCGA-FS-A1YW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ede8a2a-405e-4689-967b-627bff0f1496 781d7787-9f92-4774-ac27-6c679bbd3387 g.chr8:140630869C>T uc003yvf.1 - 1 821 c.757G>A c.(757-759)Gat>Aat p.D253N KCNK9_uc003yvg.1_Missense_Mutation_p.D253N|KCNK9_uc003yve.1_Non-coding_Transcript NM_016601 NP_057685 Q9NPC2 KCNK9_HUMAN Homo sapiens potassium channel, subfamily K, member 9 (KCNK9), mRNA. 253 integral to membrane|membrane fraction potassium channel activity|voltage-gated ion channel activity NS(1)|endometrium(9)|kidney(1)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1) 43 all_cancers(97;3.94e-14)|all_epithelial(106;4.81e-13)|Lung NSC(106;8.18e-05)|all_lung(105;0.00015)|Ovarian(258;0.00235)|Acute lymphoblastic leukemia(118;0.155) Ovarian(118;0.134) BRCA - Breast invasive adenocarcinoma(115;0.0855) CGCCGCTCATCCTCACTGTTC 0.597000 30 82 0 0 0.014410 0 0 HNF4G 3174 broad.mit.edu 37 8 76468232 76468232 + Missense_Mutation SNP G A A TCGA-FS-A1YW-06A-11D-A197-08 TCGA-FS-A1YW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ede8a2a-405e-4689-967b-627bff0f1496 781d7787-9f92-4774-ac27-6c679bbd3387 g.chr8:76468232G>A uc003yaq.3 + 6 790 c.520G>A c.(520-522)Gct>Act p.A174T HNF4G_uc003yar.3_Missense_Mutation_p.A211T NM_004133 NP_004124 Q14541 HNF4G_HUMAN Homo sapiens hepatocyte nuclear factor 4, gamma (HNF4G), mRNA. 174 endocrine pancreas development|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 37 Breast(64;0.0448) BRCA - Breast invasive adenocarcinoma(89;0.161) ACTGTTGAGAGCTCACGCAGG 0.313000 11 30 0 0 0.013726 0 0 KCNN3 3782 broad.mit.edu 37 1 154685944 154685944 + Missense_Mutation SNP G A A TCGA-FS-A1YW-06A-11D-A197-08 TCGA-FS-A1YW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ede8a2a-405e-4689-967b-627bff0f1496 781d7787-9f92-4774-ac27-6c679bbd3387 g.chr1:154685944G>A uc021pah.1 - 7 2254 c.1940C>T c.(1939-1941)tCc>tTc p.S647F KCNN3_uc001ffo.3_Missense_Mutation_p.S327F|KCNN3_uc001ffp.3_Missense_Mutation_p.S632F NM_001204087 NP_001191016 Q9UGI6 KCNN3_HUMAN Homo sapiens potassium intermediate/small conductance calcium-activated channel, subfamily N, member 3 (KCNN3), transcript variant 3, mRNA. 637 integral to membrane calmodulin binding cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(11)|prostate(4)|skin(1) 28 all_lung(78;2.29e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.108)|all_neural(408;0.245) BRCA - Breast invasive adenocarcinoma(34;0.00819) ACTCACCTTGGAAAGGTCCAC 0.552000 59 28 0 0 0.010818 0 0 OR6C1 390321 broad.mit.edu 37 12 55714500 55714500 + Silent SNP G A A TCGA-FS-A1YW-06A-11D-A197-08 TCGA-FS-A1YW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ede8a2a-405e-4689-967b-627bff0f1496 781d7787-9f92-4774-ac27-6c679bbd3387 g.chr12:55714500G>A uc010spi.2 + 0 117 c.117G>A c.(115-117)ggG>ggA p.G39G NM_001005182 NP_001005182 Q96RD1 OR6C1_HUMAN Homo sapiens olfactory receptor, family 6, subfamily C, member 1 (OR6C1), mRNA. 39 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(3)|large_intestine(5)|liver(2)|lung(13)|ovary(1)|upper_aerodigestive_tract(1) 25 GCATCACTGGGAACCTGACCC 0.408000 32 30 0 0 0.008361 0 0 PTPRR 5801 broad.mit.edu 37 12 71139839 71139839 + Nonsense_Mutation SNP G A A TCGA-FS-A1YW-06A-11D-A197-08 TCGA-FS-A1YW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ede8a2a-405e-4689-967b-627bff0f1496 781d7787-9f92-4774-ac27-6c679bbd3387 g.chr12:71139839G>A uc001swi.2 - 5 1180 c.766C>T c.(766-768)Cag>Tag p.Q256* PTPRR_uc001swh.2_Nonsense_Mutation_p.Q11*|PTPRR_uc009zrs.3_Nonsense_Mutation_p.Q50*|PTPRR_uc010stq.2_Nonsense_Mutation_p.Q144*|PTPRR_uc010str.1_Nonsense_Mutation_p.Q105* NM_002849 NP_570897 Q15256 PTPRR_HUMAN Homo sapiens protein tyrosine phosphatase, receptor type, R (PTPRR), transcript variant 1, mRNA. 256 in utero embryonic development Golgi apparatus|cell surface|integral to membrane|nucleus|perinuclear region of cytoplasm|plasma membrane protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 41 GBM - Glioblastoma multiforme(2;5.67e-07)|Lung(24;0.00283)|OV - Ovarian serous cystadenocarcinoma(12;0.00578)|LUSC - Lung squamous cell carcinoma(43;0.132) COAD - Colon adenocarcinoma(1;0.136) AAGGAAAGCTGAAATCTTTCT 0.408000 15 10 0 0 0.006214 0 0 ZSWIM5 57643 broad.mit.edu 37 1 45484195 45484195 + Silent SNP G A A TCGA-FS-A1YW-06A-11D-A197-08 TCGA-FS-A1YW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ede8a2a-405e-4689-967b-627bff0f1496 781d7787-9f92-4774-ac27-6c679bbd3387 g.chr1:45484195G>A uc001cnd.2 - 13 3717 c.3489C>T c.(3487-3489)atC>atT p.I1163I NM_020883 NP_065934 Q9P217 ZSWM5_HUMAN Homo sapiens zinc finger, SWIM-type containing 5 (ZSWIM5), mRNA. 1163 zinc ion binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|liver(1)|lung(13)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 28 Acute lymphoblastic leukemia(166;0.155) TGAGGTTGTCGATGAACTGGG 0.537000 OREG0013450 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 121 82 0 0 0.014410 0 0 WDR63 126820 broad.mit.edu 37 1 85595757 85595757 + Missense_Mutation SNP A C C TCGA-FS-A1YW-06A-11D-A197-08 TCGA-FS-A1YW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ede8a2a-405e-4689-967b-627bff0f1496 781d7787-9f92-4774-ac27-6c679bbd3387 g.chr1:85595757A>C uc001dkt.3 + 21 2685 c.2494A>C c.(2494-2496)Aag>Cag p.K832Q WDR63_uc009wcl.3_Missense_Mutation_p.K793Q NM_145172 NP_660155 Q8IWG1 WDR63_HUMAN Homo sapiens WD repeat domain 63 (WDR63), mRNA. 832 NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|upper_aerodigestive_tract(3) 36 all cancers(265;0.00391)|Epithelial(280;0.00922)|Colorectal(170;0.166) TGAGCAAGAAAAGAAAGAAAT 0.338000 90 69 0 0 0.014410 0 0 TUBB8 347688 broad.mit.edu 37 10 93359 93359 + Missense_Mutation SNP C T T TCGA-FS-A1YW-06A-11D-A197-08 TCGA-FS-A1YW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ede8a2a-405e-4689-967b-627bff0f1496 781d7787-9f92-4774-ac27-6c679bbd3387 g.chr10:93359C>T uc001ifi.2 - 3 973 c.973G>A c.(973-975)Gag>Aag p.E325K NM_177987 NP_817124 Q3ZCM7 TBB8_HUMAN Homo sapiens tubulin, beta 8 class VIII (TUBB8), transcript variant 1, mRNA. 325 microtubule-based movement|protein polymerization cytoplasm|microtubule GTP binding|GTPase activity|structural molecule activity NS(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(12)|ovary(2)|prostate(3)|skin(3)|stomach(1) 32 all_cancers(4;0.00131)|all_lung(4;0.000777)|Lung NSC(4;0.0043)|all_epithelial(10;0.0154)|Colorectal(49;0.235) Epithelial(11;0.00341)|all cancers(11;0.00922)|OV - Ovarian serous cystadenocarcinoma(14;0.0508)|Lung(33;0.132) TCATCCACCTCCCTCATGGGC 0.522000 86 48 0 0 0.013114 0 0 PSMB5 5693 broad.mit.edu 37 14 23502818 23502818 + Missense_Mutation SNP C A A TCGA-FS-A1YW-06A-11D-A197-08 TCGA-FS-A1YW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ede8a2a-405e-4689-967b-627bff0f1496 781d7787-9f92-4774-ac27-6c679bbd3387 g.chr14:23502818C>A uc001wii.3 - 1 528 c.264G>T c.(262-264)caG>caT p.Q88H PSMB5_uc001wij.3_Missense_Mutation_p.Q88H|PSMB5_uc010tni.2_5'UTR NM_002797 NP_001124197 P28074 PSB5_HUMAN Homo sapiens proteasome (prosome, macropain) subunit, beta type, 5 (PSMB5), transcript variant 1, mRNA. 88 DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|interspecies interaction between organisms|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|viral reproduction cytoplasm|nucleus protein binding|threonine-type endopeptidase activity kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1) 7 all_cancers(95;3.3e-05) GBM - Glioblastoma multiforme(265;0.0121) Bortezomib(DB00188) TCTTCACCGTCTGGGAGGCAA 0.552000 21 23 3.01185e-09 4.17025e-09 0.021523 1 0 PCDHAC2 56134 broad.mit.edu 37 5 140209955 140209955 + Missense_Mutation SNP C T T TCGA-FS-A1YW-06A-11D-A197-08 TCGA-FS-A1YW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ede8a2a-405e-4689-967b-627bff0f1496 781d7787-9f92-4774-ac27-6c679bbd3387 g.chr5:140209955C>T uc003lho.2 + 0 2306 c.2279C>T c.(2278-2280)tCc>tTc p.S760F PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc011dab.2_Missense_Mutation_p.S760F NM_018909 NP_061732 Q9Y5I4 PCDC2_HUMAN Homo sapiens protocadherin alpha 6 (PCDHA6), transcript variant 1, mRNA. 751 homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1) 45 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) AGGGTGTGCTCCGGGGAGGGC 0.612000 33 23 0 0 0.016522 0 0 NUMB 8650 broad.mit.edu 37 14 73783131 73783131 + Splice_Site SNP C T T TCGA-FS-A1YW-06A-11D-A197-08 TCGA-FS-A1YW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ede8a2a-405e-4689-967b-627bff0f1496 781d7787-9f92-4774-ac27-6c679bbd3387 g.chr14:73783131C>T uc001xny.1 - 6 522 c.202_splice c.e6-1 p.E68_splice NUMB_uc010aro.1_Splice_Site_p.E68_splice|NUMB_uc010arp.1_Intron|NUMB_uc010arq.1_Splice_Site_p.E68_splice|NUMB_uc010arr.1_Intron|NUMB_uc001xoa.1_Splice_Site_p.E68_splice|NUMB_uc001xnz.1_Intron|NUMB_uc001xob.1_Intron|NUMB_uc001xod.1_Splice_Site_p.E68_splice|NUMB_uc001xoc.1_Splice_Site_p.E68_splice|NUMB_uc010ars.1_Intron|NUMB_uc001xof.1_Intron|NUMB_uc001xog.3_Intron|NUMB_uc001xoh.1_Intron NM_001005743 NP_001005743 P49757 NUMB_HUMAN Homo sapiens numb homolog (Drosophila) (NUMB), transcript variant 1, mRNA. 68 PID. E -> Q (in Ref. 3; AAD27959). axon guidance|lateral ventricle development|neuroblast division in subventricular zone|positive regulation of neurogenesis integral to plasma membrane breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(3)|prostate(1)|skin(3)|urinary_tract(1) 28 BRCA - Breast invasive adenocarcinoma(234;0.00471)|OV - Ovarian serous cystadenocarcinoma(108;0.161) ACTTCCTTTCCTGGAGGAACA 0.413000 39 25 0 0 0.027356 0 0 WIF1 11197 broad.mit.edu 37 12 65461507 65461507 + Missense_Mutation SNP G A A TCGA-FS-A1YW-06A-11D-A197-08 TCGA-FS-A1YW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ede8a2a-405e-4689-967b-627bff0f1496 781d7787-9f92-4774-ac27-6c679bbd3387 g.chr12:65461507G>A uc001ssk.3 - 4 977 c.602C>T c.(601-603)cCt>cTt p.P201L NM_007191 NP_009122 Q9Y5W5 WIF1_HUMAN Homo sapiens WNT inhibitory factor 1 (WIF1), mRNA. 201 EGF-like 1. Wnt receptor signaling pathway|multicellular organismal development extracellular region protein tyrosine kinase activity cervix(1)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|stomach(1)|urinary_tract(1) 21 LUAD - Lung adenocarcinoma(6;0.0234)|LUSC - Lung squamous cell carcinoma(43;0.0975) GBM - Glioblastoma multiforme(28;0.0231) GAACCCATCAGGACACTCGCA 0.522000 T HMGA2 pleomorphic salivary gland adenoma 28 11 0 0 0.016723 0 0 CYP4A22 284541 broad.mit.edu 37 1 47606542 47606542 + Missense_Mutation SNP C T T TCGA-FS-A1YW-06A-11D-A197-08 TCGA-FS-A1YW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ede8a2a-405e-4689-967b-627bff0f1496 781d7787-9f92-4774-ac27-6c679bbd3387 g.chr1:47606542C>T uc001cqv.1 + 1 337 c.286C>T c.(286-288)Cgt>Tgt p.R96C CYP4A22_uc009vyo.3_Missense_Mutation_p.R96C|CYP4A22_uc009vyp.3_Missense_Mutation_p.R96C NM_001010969 NP_001010969 Q5TCH4 CP4AM_HUMAN Homo sapiens cytochrome P450, family 4, subfamily A, polypeptide 22 (CYP4A22), mRNA. 96 endoplasmic reticulum membrane|microsome alkane 1-monooxygenase activity|electron carrier activity|heme binding breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 22 AGGCAAAGTTCGTGTCCAGCT 0.502000 80 46 0 0 0.014410 0 0 C4orf40 401137 broad.mit.edu 37 4 71024045 71024045 + Splice_Site SNP G A A TCGA-FS-A1YW-06A-11D-A197-08 TCGA-FS-A1YW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ede8a2a-405e-4689-967b-627bff0f1496 781d7787-9f92-4774-ac27-6c679bbd3387 g.chr4:71024045G>A uc003hfa.4 + 4 149 c.76_splice c.e4-1 p.D26_splice C4orf40_uc003hfb.4_Splice_Site_p.D26_splice NM_214711 NP_999876 Q6MZM9 CD040_HUMAN Homo sapiens chromosome 4 open reading frame 40 (C4orf40), mRNA. 26 extracellular region breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 12 TCTCCTTTAGGATGACAATGA 0.358000 83 37 0 0 0.019004 0 0 BMP2K 55589 broad.mit.edu 37 4 79768397 79768397 + Missense_Mutation SNP C T T TCGA-FS-A1YW-06A-11D-A197-08 TCGA-FS-A1YW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ede8a2a-405e-4689-967b-627bff0f1496 781d7787-9f92-4774-ac27-6c679bbd3387 g.chr4:79768397C>T uc003hlk.3 + 5 890 c.724C>T c.(724-726)Ccc>Tcc p.P242S BMP2K_uc010ijl.1_Non-coding_Transcript|BMP2K_uc003hlj.3_Missense_Mutation_p.P242S NM_198892 NP_942595 Q9NSY1 BMP2K_HUMAN Homo sapiens BMP2 inducible kinase (BMP2K), transcript variant 1, mRNA. 242 Protein kinase. nucleus ATP binding|protein serine/threonine kinase activity NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1) 13 TGGAGGGAAACCCATCACCAC 0.378000 12 21 0 0 0.018920 0 0 C10orf71 118461 broad.mit.edu 37 10 50532573 50532573 + Silent SNP G A A TCGA-FS-A1YW-06A-11D-A197-08 TCGA-FS-A1YW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ede8a2a-405e-4689-967b-627bff0f1496 781d7787-9f92-4774-ac27-6c679bbd3387 g.chr10:50532573G>A uc021pqb.1 + 0 1983 c.1983G>A c.(1981-1983)gaG>gaA p.E661E C10orf71_uc021pqa.1_Silent_p.E660E|C10orf71_uc021pqc.1_Silent_p.E661E NM_001135196 NP_001128668 Q711Q0 CJ071_HUMAN Homo sapiens chromosome 10 open reading frame 71 (C10orf71), transcript variant 1, mRNA. 661 endometrium(1) 1 GGGCTACAGAGAAAATGAAGA 0.552000 16 7 0 0 0.001984 0 0 FSIP2 401024 broad.mit.edu 37 2 186670597 186670597 + Missense_Mutation SNP G A A TCGA-FS-A1YW-06A-11D-A197-08 TCGA-FS-A1YW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ede8a2a-405e-4689-967b-627bff0f1496 781d7787-9f92-4774-ac27-6c679bbd3387 g.chr2:186670597G>A uc002upl.3 + 16 16831 c.16831G>A c.(16831-16833)Gaa>Aaa p.E5611K FSIP2_uc002upm.3_Intron NM_173651 NP_775922 Homo sapiens fibrous sheath interacting protein 2 (FSIP2), mRNA. NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2) 69 GGAAGTGGATGAAAATAAAGT 0.343000 12 29 0 0 0.007291 0 0 SEMA5A 9037 broad.mit.edu 37 5 9052067 9052067 + Silent SNP G A A TCGA-FS-A1YW-06A-11D-A197-08 TCGA-FS-A1YW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ede8a2a-405e-4689-967b-627bff0f1496 781d7787-9f92-4774-ac27-6c679bbd3387 g.chr5:9052067G>A uc003jek.2 - 19 3475 c.2763C>T c.(2761-2763)atC>atT p.I921I NM_003966 NP_003957 Q13591 SEM5A_HUMAN Homo sapiens sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A (SEMA5A), mRNA. 921 TSP type-1 7. cell adhesion|cell-cell signaling integral to membrane|plasma membrane biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(13)|lung(40)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 81 GGAACAGGAGGATGCACTGGC 0.592000 31 13 0 0 0.016723 0 0 TRERF1 55809 broad.mit.edu 37 6 42235936 42235936 + Missense_Mutation SNP C T T TCGA-FS-A1YW-06A-11D-A197-08 TCGA-FS-A1YW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ede8a2a-405e-4689-967b-627bff0f1496 781d7787-9f92-4774-ac27-6c679bbd3387 g.chr6:42235936C>T uc003ose.2 - 4 1956 c.1393G>A c.(1393-1395)Ggg>Agg p.G465R TRERF1_uc011duq.1_Missense_Mutation_p.G465R|TRERF1_uc003osb.2_Missense_Mutation_p.G304R|TRERF1_uc003osc.2_Missense_Mutation_p.G304R|TRERF1_uc003osd.2_Missense_Mutation_p.G465R NM_033502 NP_277037 Q96PN7 TREF1_HUMAN Homo sapiens transcriptional regulating factor 1 (TRERF1), mRNA. 465 Interacts with CREBBP. cholesterol catabolic process|homeostatic process|multicellular organismal development|positive regulation of transcription, DNA-dependent|regulation of hormone biosynthetic process|steroid biosynthetic process nucleus DNA bending activity|RNA polymerase II transcription cofactor activity|ligand-dependent nuclear receptor transcription coactivator activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding breast(1)|central_nervous_system(2)|endometrium(7)|kidney(1)|large_intestine(12)|lung(13)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(2) 45 Colorectal(47;0.196) Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152) TGCTGAGGCCCCATGTTGTTG 0.602000 82 28 0 0 0.009535 0 0 NIN 51199 broad.mit.edu 37 14 51223836 51223836 + Silent SNP G A A TCGA-FS-A1YW-06A-11D-A197-08 TCGA-FS-A1YW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ede8a2a-405e-4689-967b-627bff0f1496 781d7787-9f92-4774-ac27-6c679bbd3387 g.chr14:51223836G>A uc001wyi.3 - 17 4103 c.3912C>T c.(3910-3912)ttC>ttT p.F1304F NIN_uc001wyj.3_Intron|NIN_uc001wym.2_Silent_p.F1304F|NIN_uc001wyk.3_Intron|NIN_uc001wyo.3_Silent_p.F1304F NM_020921 NP_065972 Q8N4C6 NIN_HUMAN Homo sapiens ninein (GSK3B interacting protein) (NIN), transcript variant 2, mRNA. 1304 centrosome localization centrosome|microtubule GTP binding|calcium ion binding|protein binding breast(4)|central_nervous_system(1)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(13)|lung(16)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5) 71 all_epithelial(31;0.00244)|Breast(41;0.127) CCAGGCTGAGGAATGTTTCAG 0.428000 T PDGFRB MPD 62 50 0 0 0.014410 0 0 KALRN 8997 broad.mit.edu 37 3 124416470 124416470 + Missense_Mutation SNP C T T TCGA-FS-A1YW-06A-11D-A197-08 TCGA-FS-A1YW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ede8a2a-405e-4689-967b-627bff0f1496 781d7787-9f92-4774-ac27-6c679bbd3387 g.chr3:124416470C>T uc003ehg.3 + 54 7857 c.7730C>T c.(7729-7731)gCc>gTc p.A2577V KALRN_uc003ehk.3_Missense_Mutation_p.A880V NM_001024660 NP_001019831 O60229 KALRN_HUMAN Homo sapiens kalirin, RhoGEF kinase (KALRN), transcript variant 1, mRNA. 2576 Fibronectin type-III. apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport actin cytoskeleton|cytosol ATP binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|metal ion binding|protein binding|protein serine/threonine kinase activity NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 83 CGCCCCATTGCCCAGGAGAGA 0.522000 11 8 0 0 0.004482 0 0 OGT 8473 broad.mit.edu 37 X 70784520 70784520 + Missense_Mutation SNP G A A TCGA-FS-A1YW-06A-11D-A197-08 TCGA-FS-A1YW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ede8a2a-405e-4689-967b-627bff0f1496 781d7787-9f92-4774-ac27-6c679bbd3387 g.chrX:70784520G>A uc004eaa.2 + 18 2744 c.2506G>A c.(2506-2508)Ggg>Agg p.G836R BCYRN1_uc011mpt.1_Intron|OGT_uc004eab.2_Missense_Mutation_p.G826R|OGT_uc004eac.3_Missense_Mutation_p.G697R|OGT_uc004ead.3_Missense_Mutation_p.G455R NM_181672 NP_858058 O15294 OGT1_HUMAN Homo sapiens O-linked N-acetylglucosamine (GlcNAc) transferase (UDP-N-acetylglucosamine:polypeptide-N-acetylglucosaminyl transferase) (OGT), transcript variant 1, mRNA. 836 cellular response to retinoic acid|positive regulation of granulocyte differentiation|positive regulation of histone H3-K4 methylation|positive regulation of proteolysis|protein O-linked glycosylation|signal transduction MLL5-L complex|cytosol enzyme activator activity|protein N-acetylglucosaminyltransferase activity|protein binding breast(6)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(5)|liver(3)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 43 Renal(35;0.156) TTCTCAGTACGGGTTACCAGA 0.398000 3 26 0 0 0.021523 0 0 PIGK 10026 broad.mit.edu 37 1 77672386 77672386 + Nonsense_Mutation SNP G A A TCGA-FS-A1YW-06A-11D-A197-08 TCGA-FS-A1YW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ede8a2a-405e-4689-967b-627bff0f1496 781d7787-9f92-4774-ac27-6c679bbd3387 g.chr1:77672386G>A uc001dhk.3 - 2 223 c.178C>T c.(178-180)Cga>Tga p.R60* PIGK_uc010orj.2_Intron|PIGK_uc009wbx.3_Intron|PIGK_uc001dhl.1_Nonsense_Mutation_p.R60* NM_005482 NP_005473 Q92643 GPI8_HUMAN Homo sapiens phosphatidylinositol glycan anchor biosynthesis, class K (PIGK), mRNA. 60 C-terminal protein lipidation|attachment of GPI anchor to protein|protein thiol-disulfide exchange|proteolysis GPI-anchor transamidase complex GPI-anchor transamidase activity|cysteine-type endopeptidase activity|protein binding endometrium(5)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2) 19 GCAACATGTCGATAATTAAAC 0.368000 78 44 0 0 0.014410 0 0 DEF8 54849 broad.mit.edu 37 16 90025426 90025426 + Missense_Mutation SNP C T T TCGA-FS-A1YW-06A-11D-A197-08 TCGA-FS-A1YW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ede8a2a-405e-4689-967b-627bff0f1496 781d7787-9f92-4774-ac27-6c679bbd3387 g.chr16:90025426C>T uc002fpn.2 + 5 693 c.560C>T c.(559-561)cCc>cTc p.P187L DEF8_uc021tmu.1_Missense_Mutation_p.P126L|DEF8_uc002fpl.3_Missense_Mutation_p.P126L|DEF8_uc002fpm.3_Missense_Mutation_p.P126L|DEF8_uc002fpo.2_Missense_Mutation_p.P126L|DEF8_uc002fpp.2_Missense_Mutation_p.P116L|DEF8_uc021tmv.1_Missense_Mutation_p.P126L|DEF8_uc010vpq.2_Missense_Mutation_p.P66L|DEF8_uc010vpr.2_Missense_Mutation_p.P126L NM_207514 NP_001229746 Q6ZN54 DEFI8_HUMAN Homo sapiens differentially expressed in FDCP 8 homolog (mouse) (DEF8), transcript variant 1, mRNA. 187 intracellular signal transduction zinc ion binding central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1) 12 all_cancers(9;7.59e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.0019)|all_hematologic(23;0.0194) BRCA - Breast invasive adenocarcinoma(80;0.0274) CTGCAGGACCCCAATGAGGAT 0.542000 89 28 0 0 0.008361 0 0 LIM2 3982 broad.mit.edu 37 19 51883515 51883515 + Splice_Site SNP C T T TCGA-FS-A1YW-06A-11D-A197-08 TCGA-FS-A1YW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ede8a2a-405e-4689-967b-627bff0f1496 781d7787-9f92-4774-ac27-6c679bbd3387 g.chr19:51883515C>T uc002pwl.2 - 5 631 c.587_splice c.e5-1 p.G196_splice LIM2_uc002pwm.2_Splice_Site_p.G154_splice NM_030657 NP_085915 P55344 LMIP_HUMAN Homo sapiens lens intrinsic membrane protein 2, 19kDa (LIM2), transcript variant 1, mRNA. 154 cell-cell junction assembly cell junction|integral to membrane structural constituent of eye lens endometrium(1)|large_intestine(3)|lung(2)|skin(1) 7 all_neural(266;0.0529) GBM - Glioblastoma multiforme(134;0.000214)|OV - Ovarian serous cystadenocarcinoma(262;0.00985) TGTAGAAAATCCCTGCATGAG 0.537000 13 10 0 0 0.008291 0 0 C2orf89 129293 broad.mit.edu 37 2 85051283 85051283 + Silent SNP G A A TCGA-FS-A1YW-06A-11D-A197-08 TCGA-FS-A1YW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ede8a2a-405e-4689-967b-627bff0f1496 781d7787-9f92-4774-ac27-6c679bbd3387 g.chr2:85051283G>A uc010ysl.2 - 5 1217 c.1128C>T c.(1126-1128)atC>atT p.I376I C2orf89_uc002sou.4_Silent_p.I327I NM_001080824 NP_001074293 Q86V40 CB089_HUMAN Homo sapiens chromosome 2 open reading frame 89 (C2orf89), mRNA. 376 integral to membrane p.I376M(2)|p.I327M(1) breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|urinary_tract(3) 18 TTGGAGCAAAGATGGTGGACA 0.582000 4 19 0 0 0.008871 0 0 MLIP 90523 broad.mit.edu 37 6 54025545 54025545 + Missense_Mutation SNP C T T rs141526731 byFrequency TCGA-FS-A1YW-06A-11D-A197-08 TCGA-FS-A1YW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ede8a2a-405e-4689-967b-627bff0f1496 781d7787-9f92-4774-ac27-6c679bbd3387 g.chr6:54025545C>T uc011dxa.2 + 7 2480 c.2447C>T c.(2446-2448)tCt>tTt p.S816F MLIP_uc003pcf.2_Missense_Mutation_p.S805F|MLIP_uc003pcg.4_Missense_Mutation_p.S281F|MLIP_uc003pch.4_Intron NM_138569 NP_612636 Q5VWP3 MLIP_HUMAN Homo sapiens muscular LMNA-interacting protein (MLIP), mRNA. 281 PML body|nuclear envelope protein binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(16)|ovary(8)|skin(4)|stomach(1)|urinary_tract(1) 34 cAGCATTCTTCTGATTCTCCT 0.338000 22 12 0 0 0.016723 0 0 MPO 4353 broad.mit.edu 37 17 56350985 56350985 + Missense_Mutation SNP C T T TCGA-FS-A1YW-06A-11D-A197-08 TCGA-FS-A1YW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ede8a2a-405e-4689-967b-627bff0f1496 781d7787-9f92-4774-ac27-6c679bbd3387 g.chr17:56350985C>T uc002ivu.1 - 8 1588 c.1411G>A c.(1411-1413)Gcc>Acc p.A471T NM_000250 NP_000241 P05164 PERM_HUMAN Homo sapiens myeloperoxidase (MPO), nuclear gene encoding mitochondrial protein, mRNA. 471 anti-apoptosis|hydrogen peroxide catabolic process|low-density lipoprotein particle remodeling extracellular space|lysosome|nucleus|stored secretory granule chromatin binding|heme binding|heparin binding|peroxidase activity breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(13)|ovary(2)|pancreas(1)|skin(4)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4) 46 Cefdinir(DB00535) TTCCTCATGGCCGTTGGCCCC 0.572000 79 76 0 0 0.014410 0 0 CUX2 23316 broad.mit.edu 37 12 111785344 111785344 + Missense_Mutation SNP G A A TCGA-FS-A1YW-06A-11D-A197-08 TCGA-FS-A1YW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ede8a2a-405e-4689-967b-627bff0f1496 781d7787-9f92-4774-ac27-6c679bbd3387 g.chr12:111785344G>A uc001tsa.2 + 21 3830 c.3676G>A c.(3676-3678)Gag>Aag p.E1226K NM_015267 NP_056082 O14529 CUX2_HUMAN Homo sapiens cut-like homeobox 2 (CUX2), mRNA. 1226 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 55 GATGCGCCGGGAGATGTTGGT 0.652000 75 57 0 0 0.014410 0 0 TRBV7-3 28595 broad.mit.edu 37 7 142247149 142247149 + Missense_Mutation SNP G A A TCGA-FS-A1YW-06A-11D-A197-08 TCGA-FS-A1YW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ede8a2a-405e-4689-967b-627bff0f1496 781d7787-9f92-4774-ac27-6c679bbd3387 g.chr7:142247149G>A uc003vyd.4 - 1 332 c.307C>T c.(307-309)Cgg>Tgg p.R103W TRBV5-1_uc011krr.1_Intron|BV13S6J2.1_uc011krx.2_Intron|BV13S6J2.1_uc011ksa.2_Intron SubName: Full=V_segment translation product; Flags: Fragment; GAGTCCCCCCGCTCTGTGCGC 0.572000 44 21 0 0 0.012319 0 0 SYT9 143425 broad.mit.edu 37 11 7334696 7334696 + Missense_Mutation SNP G A A TCGA-FS-A1YW-06A-11D-A197-08 TCGA-FS-A1YW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ede8a2a-405e-4689-967b-627bff0f1496 781d7787-9f92-4774-ac27-6c679bbd3387 g.chr11:7334696G>A uc001mfe.3 + 2 805 c.568G>A c.(568-570)Gaa>Aaa p.E190K SYT9_uc001mfd.3_Non-coding_Transcript|SYT9_uc009yfi.3_Intron NM_175733 NP_783860 Q86SS6 SYT9_HUMAN Homo sapiens synaptotagmin IX (SYT9), mRNA. 190 cell junction|integral to membrane|synaptic vesicle membrane metal ion binding|transporter activity NS(1)|endometrium(2)|large_intestine(9)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 38 Epithelial(150;1.34e-07)|LUSC - Lung squamous cell carcinoma(625;0.0949) TCAAAAACAGGAACAGTTGAC 0.413000 26 13 0 0 0.013537 0 0 CYP7A1 1581 broad.mit.edu 37 8 59409271 59409271 + Nonsense_Mutation SNP A T T TCGA-FS-A1YW-06A-11D-A197-08 TCGA-FS-A1YW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ede8a2a-405e-4689-967b-627bff0f1496 781d7787-9f92-4774-ac27-6c679bbd3387 g.chr8:59409271A>T uc003xtm.4 - 2 863 c.800T>A c.(799-801)tTg>tAg p.L267* NM_000780 NP_000771 P22680 CP7A1_HUMAN Homo sapiens cytochrome P450, family 7, subfamily A, polypeptide 1 (CYP7A1), mRNA. 267 bile acid biosynthetic process|cellular lipid metabolic process|cellular response to cholesterol|cellular response to glucose stimulus|cholesterol catabolic process|cholesterol homeostasis|regulation of bile acid biosynthetic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome cholesterol 7-alpha-monooxygenase activity|electron carrier activity|heme binding breast(4)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|prostate(1)|urinary_tract(1) 34 all_lung(136;0.0271)|Lung NSC(129;0.0351)|all_epithelial(80;0.0554) AAAGGTGGACAAAGTGTCATT 0.507000 Neonatal Giant Cell Hepatitis 116 166 0 0 0.014410 0 0 TRIM67 440730 broad.mit.edu 37 1 231339639 231339639 + Missense_Mutation SNP G A A TCGA-FS-A1YW-06A-11D-A197-08 TCGA-FS-A1YW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ede8a2a-405e-4689-967b-627bff0f1496 781d7787-9f92-4774-ac27-6c679bbd3387 g.chr1:231339639G>A uc009xfn.1 + 5 1603 c.1561G>A c.(1561-1563)Gag>Aag p.E521K NM_001004342 NP_001004342 Q6ZTA4 TRI67_HUMAN Homo sapiens tripartite motif containing 67 (TRIM67), mRNA. 521 Fibronectin type-III. cytoplasm|cytoskeleton zinc ion binding breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 29 Breast(184;0.0871) all_cancers(173;0.189)|Prostate(94;0.167) ACTGCAGCTGGAGAAATGCTG 0.672000 16 10 0 0 0.013537 0 0 BORA 79866 broad.mit.edu 37 13 73305505 73305505 + Silent SNP T A A TCGA-FS-A1YW-06A-11D-A197-08 TCGA-FS-A1YW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ede8a2a-405e-4689-967b-627bff0f1496 781d7787-9f92-4774-ac27-6c679bbd3387 g.chr13:73305505T>A uc010aen.1 + 2 612 c.465T>A c.(463-465)gcT>gcA p.A155A BORA_uc010thq.1_5'UTR|BORA_uc001viv.1_Silent_p.A80A|BORA_uc010thr.1_Intron NM_024808 NP_079084 Q6PGQ7 BORA_HUMAN Homo sapiens bora, aurora kinase A activator (BORA), mRNA. 80 cell division|mitosis|regulation of mitosis|regulation of mitotic spindle organization|regulation of protein localization protein kinase binding ATCGTCAAGCTTTATACTTAA 0.338000 25 40 0 0 0.027894 0 0 FAM188B 84182 broad.mit.edu 37 7 30821777 30821777 + Missense_Mutation SNP C T T TCGA-FS-A1YW-06A-11D-A197-08 TCGA-FS-A1YW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ede8a2a-405e-4689-967b-627bff0f1496 781d7787-9f92-4774-ac27-6c679bbd3387 g.chr7:30821777C>T uc003tbt.3 + 2 445 c.368C>T c.(367-369)tCa>tTa p.S123L FAM188B_uc010kwe.3_Missense_Mutation_p.S94L NM_032222 NP_115598 Q4G0A6 F188B_HUMAN Homo sapiens family with sequence similarity 188, member B (FAM188B), mRNA. 123 endometrium(1)|large_intestine(5)|lung(19)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 TATGACCTTTCAGATGAAGAT 0.383000 20 6 0 0 0.021553 0 0 SLC9C2 284525 broad.mit.edu 37 1 173552686 173552686 + Missense_Mutation SNP C T T TCGA-FS-A1YW-06A-11D-A197-08 TCGA-FS-A1YW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ede8a2a-405e-4689-967b-627bff0f1496 781d7787-9f92-4774-ac27-6c679bbd3387 g.chr1:173552686C>T uc001giz.2 - 5 1022 c.599G>A c.(598-600)gGa>gAa p.G200E SLC9C2_uc010pmq.1_Non-coding_Transcript NM_178527 NP_848622 Q5TAH2 S9A11_HUMAN Homo sapiens solute carrier family 9, member 11 (SLC9A11), mRNA. 200 sodium ion transport integral to membrane ion channel activity|solute:hydrogen antiporter activity CCGAAAATTTCCAAAAAAAAT 0.279000 33 27 0 0 0.021523 0 0 DMRTC2 63946 broad.mit.edu 37 19 42351543 42351543 + Missense_Mutation SNP C A A TCGA-FS-A1YW-06A-11D-A197-08 TCGA-FS-A1YW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ede8a2a-405e-4689-967b-627bff0f1496 781d7787-9f92-4774-ac27-6c679bbd3387 g.chr19:42351543C>A uc010xwe.2 + 1 130 c.47C>A c.(46-48)tCt>tAt p.S16Y DMRTC2_uc002orr.1_5'UTR|DMRTC2_uc002ors.3_Missense_Mutation_p.S16Y NM_001040283 NP_001035373 Q8IXT2 DMRTD_HUMAN Homo sapiens DMRT-like family C2 (DMRTC2), mRNA. 16 cell differentiation|sex differentiation nucleus DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity endometrium(1)|large_intestine(2)|lung(5)|prostate(1)|skin(1) 10 CCCTTAGACTCTGCCCCCTGG 0.627000 58 44 1.61004e-24 2.25669e-24 0.014410 1 0 VARS 7407 broad.mit.edu 37 6 31749631 31749631 + Silent SNP G A A TCGA-FS-A1YW-06A-11D-A197-08 TCGA-FS-A1YW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ede8a2a-405e-4689-967b-627bff0f1496 781d7787-9f92-4774-ac27-6c679bbd3387 g.chr6:31749631G>A uc003nxe.3 - 18 2763 c.2340C>T c.(2338-2340)ctC>ctT p.L780L VARS_uc021yuy.1_5'Flank|VARS_uc011doi.1_Non-coding_Transcript NM_006295 NP_006286 P26640 SYVC_HUMAN Homo sapiens valyl-tRNA synthetase (VARS), nuclear gene encoding mitochondrial protein, mRNA. 780 translational elongation|valyl-tRNA aminoacylation cytosol ATP binding|protein binding|valine-tRNA ligase activity central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 30 L-Valine(DB00161) TGCCTTGCTGGAGACTGATCT 0.617000 200 146 0 0 0.014410 0 0 XKR4 114786 broad.mit.edu 37 8 56270377 56270377 + Missense_Mutation SNP C T T TCGA-FS-A1YW-06A-11D-A197-08 TCGA-FS-A1YW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ede8a2a-405e-4689-967b-627bff0f1496 781d7787-9f92-4774-ac27-6c679bbd3387 g.chr8:56270377C>T uc003xsf.3 + 1 978 c.946C>T c.(946-948)Cca>Tca p.P316S NM_052898 NP_443130 Q5GH76 XKR4_HUMAN Homo sapiens XK, Kell blood group complex subunit-related family, member 4 (XKR4), mRNA. 316 integral to membrane NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(3)|large_intestine(4)|liver(2)|lung(12)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 34 Epithelial(17;0.000117)|all cancers(17;0.000836) GGAAAGTGCTCCACAGCTGGT 0.468000 28 15 0 0 0.024245 0 0 RNF17 56163 broad.mit.edu 37 13 25435510 25435510 + Silent SNP C T T TCGA-FS-A1YW-06A-11D-A197-08 TCGA-FS-A1YW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ede8a2a-405e-4689-967b-627bff0f1496 781d7787-9f92-4774-ac27-6c679bbd3387 g.chr13:25435510C>T uc001upr.3 + 26 3920 c.3879C>T c.(3877-3879)ctC>ctT p.L1293L RNF17_uc010tdd.1_Silent_p.L1152L|RNF17_uc010tde.2_Silent_p.L1289L|RNF17_uc010aab.3_Non-coding_Transcript|RNF17_uc001ups.3_Silent_p.L1232L|RNF17_uc010aac.3_Silent_p.L491L|RNF17_uc010aad.3_Silent_p.L345L NM_031277 NP_112567 Q9BXT8 RNF17_HUMAN Homo sapiens ring finger protein 17 (RNF17), transcript variant 1, mRNA. 1293 multicellular organismal development cytoplasm|nucleus hydrolase activity, acting on ester bonds|nucleic acid binding|zinc ion binding NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(3)|skin(6) 36 Lung SC(185;0.0225)|Breast(139;0.077) all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524) CTTGTCAGCTCCATAATACCA 0.284000 136 79 0 0 0.014410 0 0 FRMPD1 22844 broad.mit.edu 37 9 37708479 37708479 + Nonsense_Mutation SNP C T T TCGA-FS-A1YW-06A-11D-A197-08 TCGA-FS-A1YW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ede8a2a-405e-4689-967b-627bff0f1496 781d7787-9f92-4774-ac27-6c679bbd3387 g.chr9:37708479C>T uc004aag.1 + 3 387 c.343C>T c.(343-345)Cga>Tga p.R115* FRMPD1_uc004aah.1_Nonsense_Mutation_p.R115* NM_014907 NP_055722 Q5SYB0 FRPD1_HUMAN Homo sapiens FERM and PDZ domain containing 1 (FRMPD1), mRNA. 115 PDZ. cytoskeleton|cytosol|plasma membrane NS(3)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(34)|ovary(5)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 93 GBM - Glioblastoma multiforme(29;0.00655) TTCCTGGGAACGAGCAGTCGA 0.448000 110 12 0 0 0.010729 0 0 WRN 7486 broad.mit.edu 37 8 31000192 31000192 + Missense_Mutation SNP C T T TCGA-FS-A1YW-06A-11D-A197-08 TCGA-FS-A1YW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ede8a2a-405e-4689-967b-627bff0f1496 781d7787-9f92-4774-ac27-6c679bbd3387 g.chr8:31000192C>T uc003xio.4 + 26 4072 c.3284C>T c.(3283-3285)cCa>cTa p.P1095L WRN_uc010lvk.3_Missense_Mutation_p.P562L NM_000553 NP_000544 Q14191 WRN_HUMAN Homo sapiens Werner syndrome, RecQ helicase-like (WRN), mRNA. 1095 DNA recombination|DNA synthesis involved in DNA repair|base-excision repair|cellular response to starvation|multicellular organismal aging|nucleolus to nucleoplasm transport|positive regulation of hydrolase activity|regulation of apoptosis|replication fork processing|response to UV-C|response to oxidative stress|telomere maintenance centrosome|nucleolus|nucleoplasm 3'-5' exonuclease activity|ATP binding|ATP-dependent 3'-5' DNA helicase activity|G-quadruplex DNA binding|Y-form DNA binding|bubble DNA binding|four-way junction helicase activity|magnesium ion binding|manganese ion binding|protein complex binding|protein homodimerization activity central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(13)|lung(28)|ovary(3)|skin(3)|upper_aerodigestive_tract(3) 60 Breast(100;0.195) KIRC - Kidney renal clear cell carcinoma(542;0.147)|Kidney(114;0.176)|Colorectal(111;0.192) AATCAAGTACCAGTTGAATTA 0.239000 """Mis, N, F, S""" """osteosarcoma, meningioma, others""" Genes defective in diseases associated with sensitivity to DNA damaging agents Werner syndrome 40 26 0 0 0.012213 0 0 ARHGEF11 9826 broad.mit.edu 37 1 156909492 156909492 + Missense_Mutation SNP G C C TCGA-FS-A1YW-06A-11D-A197-08 TCGA-FS-A1YW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ede8a2a-405e-4689-967b-627bff0f1496 781d7787-9f92-4774-ac27-6c679bbd3387 g.chr1:156909492G>C uc001fqo.3 - 35 4864 c.3824C>G c.(3823-3825)cCa>cGa p.P1275R ARHGEF11_uc010phu.2_Missense_Mutation_p.P691R|ARHGEF11_uc001fqn.3_Missense_Mutation_p.P1315R NM_014784 NP_055599 O15085 ARHGB_HUMAN Homo sapiens Rho guanine nucleotide exchange factor (GEF) 11 (ARHGEF11), transcript variant 1, mRNA. 1275 G-protein coupled receptor protein signaling pathway|Rho protein signal transduction|actin cytoskeleton organization|apoptosis|axon guidance|cellular component movement|cytokinesis|establishment of cell polarity|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of Rho protein signal transduction|regulation of cell growth|striated muscle contraction Golgi apparatus|cytosol|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) TTCCTGCTCTGGCCGTTCCCC 0.612000 15 25 0 0 0.021523 0 0 PDE5A 8654 broad.mit.edu 37 4 120427082 120427082 + Missense_Mutation SNP C T T TCGA-FS-A1YW-06A-11D-A197-08 TCGA-FS-A1YW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ede8a2a-405e-4689-967b-627bff0f1496 781d7787-9f92-4774-ac27-6c679bbd3387 g.chr4:120427082C>T uc003idh.3 - 16 2350 c.2195G>A c.(2194-2196)cGa>cAa p.R732Q PDE5A_uc003idf.3_Missense_Mutation_p.R690Q|PDE5A_uc003idg.3_Missense_Mutation_p.R680Q NM_001083 NP_246273 O76074 PDE5A_HUMAN Homo sapiens phosphodiesterase 5A, cGMP-specific (PDE5A), transcript variant 1, mRNA. 732 Catalytic (By similarity). platelet activation|signal transduction cytosol 3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|zinc ion binding p.G733delG(1) breast(4)|endometrium(2)|kidney(3)|large_intestine(8)|lung(7)|prostate(1)|skin(1)|urinary_tract(1) 27 Dipyridamole(DB00975)|Pentoxifylline(DB00806)|Sildenafil(DB00203)|Tadalafil(DB00820)|Theophylline(DB00277)|Vardenafil(DB00862) AAATTCTCCTCGCCTCCTACA 0.318000 23 11 0 0 0.010729 0 0 GPR4 2828 broad.mit.edu 37 19 46094942 46094942 + Silent SNP G A A TCGA-FS-A1YW-06A-11D-A197-08 TCGA-FS-A1YW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ede8a2a-405e-4689-967b-627bff0f1496 781d7787-9f92-4774-ac27-6c679bbd3387 g.chr19:46094942G>A uc002pcm.3 - 1 1128 c.183C>T c.(181-183)atC>atT p.I61I OPA3_uc010xxk.2_Intron|GPR4_uc021uvw.1_Silent_p.I61I NM_005282 NP_005273 P46093 GPR4_HUMAN Homo sapiens G protein-coupled receptor 4 (GPR4), mRNA. 61 integral to plasma membrane G-protein coupled receptor activity p.S60S(1) breast(2)|endometrium(1)|kidney(3)|large_intestine(1)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 23 OV - Ovarian serous cystadenocarcinoma(262;0.0071)|GBM - Glioblastoma multiforme(486;0.128)|Epithelial(262;0.223) GCAGGTCGGCGATGCTGAGGT 0.647000 47 30 0 0 0.009535 0 0 PCDHGC5 56097 broad.mit.edu 37 5 140754042 140754042 + Missense_Mutation SNP C T T TCGA-FS-A1YW-06A-11D-A197-08 TCGA-FS-A1YW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ede8a2a-405e-4689-967b-627bff0f1496 781d7787-9f92-4774-ac27-6c679bbd3387 g.chr5:140754042C>T uc003ljy.2 + 0 392 c.392C>T c.(391-393)cCc>cTc p.P131L PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc011dau.2_Missense_Mutation_p.P131L NM_018919 NP_061742 Q9Y5F6 PCDGM_HUMAN Homo sapiens protocadherin gamma subfamily A, 6 (PCDHGA6), transcript variant 1, mRNA. 131 Cadherin 1. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2) 35 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GACAATACACCCCGATTCTTA 0.443000 49 38 0 0 0.025465 0 0 IGSF10 285313 broad.mit.edu 37 3 151165385 151165385 + Missense_Mutation SNP T G G TCGA-FS-A1YW-06A-11D-A197-08 TCGA-FS-A1YW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ede8a2a-405e-4689-967b-627bff0f1496 781d7787-9f92-4774-ac27-6c679bbd3387 g.chr3:151165385T>G uc011bod.2 - 3 2384 c.2384A>C c.(2383-2385)gAt>gCt p.D795A NM_178822 NP_849144 Q6WRI0 IGS10_HUMAN Homo sapiens immunoglobulin superfamily, member 10 (IGSF10), transcript variant 1, mRNA. 795 D -> N (in dbSNP:rs58583961). cell differentiation|multicellular organismal development|ossification extracellular region NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3) 116 LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517) GCCTGAGGAATCGTCTTCTTC 0.488000 58 30 0 0 0.008361 0 0 CPEB4 80315 broad.mit.edu 37 5 173317642 173317643 + Missense_Mutation DNP CG GT GT TCGA-FS-A1YW-06A-11D-A197-08 TCGA-FS-A1YW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ede8a2a-405e-4689-967b-627bff0f1496 781d7787-9f92-4774-ac27-6c679bbd3387 g.chr5:173317642_173317643CG>GT uc003mcs.4 + 0 2312_2313 c.906_907CG>GT c.(904-909)ggcggt>ggGTgt p.G303C CPEB4_uc010jju.2_Missense_Mutation_p.G303C|CPEB4_uc010jjv.3_Missense_Mutation_p.G303C|CPEB4_uc011dfg.2_Missense_Mutation_p.G303C|CPEB4_uc003mcu.4_5'Flank NM_030627 NP_085130 Q17RY0 CPEB4_HUMAN Homo sapiens cytoplasmic polyadenylation element binding protein 4 (CPEB4), mRNA. 303 Poly-Gly. RNA binding|nucleotide binding NS(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2) 20 Renal(175;0.000159)|Lung NSC(126;0.0128)|all_lung(126;0.0202) Medulloblastoma(196;0.0399)|all_neural(177;0.0966) Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183) GGAGCCCGGGCGGTGGTGGATA 0.579000 109 54 0 0 0.004672 0 0 DDR2 4921 broad.mit.edu 37 1 162731078 162731078 + Missense_Mutation SNP T G G TCGA-FS-A1YW-06A-11D-A197-08 TCGA-FS-A1YW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ede8a2a-405e-4689-967b-627bff0f1496 781d7787-9f92-4774-ac27-6c679bbd3387 g.chr1:162731078T>G uc001gcf.3 + 9 1398 c.933T>G c.(931-933)agT>agG p.S311R DDR2_uc001gcg.3_Missense_Mutation_p.S311R NM_001014796 NP_006173 Q16832 DDR2_HUMAN Homo sapiens discoidin domain receptor tyrosine kinase 2 (DDR2), transcript variant 1, mRNA. 311 cell adhesion integral to plasma membrane ATP binding|transmembrane receptor protein tyrosine kinase activity central_nervous_system(2)|kidney(1)|lung(2)|ovary(1)|skin(1) 7 all_hematologic(112;0.115) BRCA - Breast invasive adenocarcinoma(70;0.113) CTGAAGCCAGTGAGTGGGAAC 0.522000 30 14 0 0 0.020292 0 0 NECAB1 64168 broad.mit.edu 37 8 91937824 91937824 + Nonsense_Mutation SNP C T T TCGA-FS-A1YW-06A-11D-A197-08 TCGA-FS-A1YW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ede8a2a-405e-4689-967b-627bff0f1496 781d7787-9f92-4774-ac27-6c679bbd3387 g.chr8:91937824C>T uc011lgg.2 + 6 750 c.556C>T c.(556-558)Cga>Tga p.R186* NM_022351 NP_071746 Q8N987 NECA1_HUMAN Homo sapiens N-terminal EF-hand calcium binding protein 1 (NECAB1), mRNA. 186 antibiotic biosynthetic process cytoplasm calcium ion binding|oxidoreductase activity breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(7) 12 BRCA - Breast invasive adenocarcinoma(11;0.0499) ATCAAGCCGCCGAGTCCAGAG 0.453000 15 24 0 0 0.021523 0 0 IRGQ 126298 broad.mit.edu 37 19 44096256 44096256 + Silent SNP G A A TCGA-FS-A1YW-06A-11D-A197-08 TCGA-FS-A1YW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ede8a2a-405e-4689-967b-627bff0f1496 781d7787-9f92-4774-ac27-6c679bbd3387 g.chr19:44096256G>A uc002oww.2 - 1 1912 c.1794C>T c.(1792-1794)caC>caT p.H598H IRGQ_uc010eiv.2_Silent_p.H598H NM_001007561 NP_001007562 Q8WZA9 IRGQ_HUMAN Homo sapiens immunity-related GTPase family, Q (IRGQ), mRNA. 598 Ala-rich. protein binding endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|pancreas(1)|prostate(3) 18 Prostate(69;0.0199) GCAGGACGCCGTGAGCCGCTC 0.706000 59 7 0 0 0.003080 0 0 SBF1 6305 broad.mit.edu 37 22 50903030 50903030 + Silent SNP C T T TCGA-FS-A1YW-06A-11D-A197-08 TCGA-FS-A1YW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ede8a2a-405e-4689-967b-627bff0f1496 781d7787-9f92-4774-ac27-6c679bbd3387 g.chr22:50903030C>T uc003blh.3 - 13 1764 c.1569G>A c.(1567-1569)aaG>aaA p.K523K SBF1_uc011arx.2_Silent_p.K187K|SBF1_uc003bli.2_Silent_p.K524K NM_002972 NP_002963 O95248 MTMR5_HUMAN Homo sapiens SET binding factor 1 (SBF1), mRNA. 523 protein dephosphorylation integral to membrane|nucleus protein tyrosine/serine/threonine phosphatase activity breast(1)|central_nervous_system(2)|endometrium(6)|kidney(8)|large_intestine(3)|lung(18)|ovary(3)|skin(1)|upper_aerodigestive_tract(1) 43 all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113) BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247) CACCCTGCATCTTGGCTGCAG 0.692000 10 45 0 0 0.013114 0 0 ANKRD12 23253 broad.mit.edu 37 18 9281083 9281083 + Missense_Mutation SNP C T T TCGA-FS-A1YW-06A-11D-A197-08 TCGA-FS-A1YW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ede8a2a-405e-4689-967b-627bff0f1496 781d7787-9f92-4774-ac27-6c679bbd3387 g.chr18:9281083C>T uc002knv.3 + 12 6412 c.6148C>T c.(6148-6150)Ctt>Ttt p.L2050F ANKRD12_uc002knw.3_Missense_Mutation_p.L2027F|ANKRD12_uc002knx.3_Missense_Mutation_p.L2027F NM_015208 NP_056023 Q6UB98 ANR12_HUMAN Homo sapiens ankyrin repeat domain 12 (ANKRD12), transcript variant 1, mRNA. 2050 nucleus NS(1)|breast(3)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(20)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(2) 65 TTATGTTCCCCTTGTTGATGT 0.418000 93 35 0 0 0.023175 0 0 MARCH11 441061 broad.mit.edu 37 5 16067654 16067654 + Missense_Mutation SNP G A A TCGA-FS-A1YW-06A-11D-A197-08 TCGA-FS-A1YW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ede8a2a-405e-4689-967b-627bff0f1496 781d7787-9f92-4774-ac27-6c679bbd3387 g.chr5:16067654G>A uc003jfo.2 - 3 1348 c.1135C>T c.(1135-1137)Cgg>Tgg p.R379W MARCH11_uc010itw.1_Missense_Mutation_p.R135W NM_001102562 NP_001096032 A6NNE9 MARHB_HUMAN Homo sapiens membrane-associated ring finger (C3HC4) 11 (MARCH11), mRNA. 379 cytoplasmic vesicle membrane|integral to membrane ligase activity|zinc ion binding NS(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(14)|urinary_tract(1) 20 GGCCTCATCCGATTGAACAGG 0.478000 97 74 0 0 0.014410 0 0 OR2A14 135941 broad.mit.edu 37 7 143826661 143826661 + Silent SNP C T T TCGA-FS-A1YW-06A-11D-A197-08 TCGA-FS-A1YW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ede8a2a-405e-4689-967b-627bff0f1496 781d7787-9f92-4774-ac27-6c679bbd3387 g.chr7:143826661C>T uc011kua.2 + 0 456 c.456C>T c.(454-456)ttC>ttT p.F152F NM_001001659 NP_001001659 Q96R47 O2A14_HUMAN Homo sapiens olfactory receptor, family 2, subfamily A, member 14 (OR2A14), mRNA. 152 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.F152F(4) large_intestine(4)|lung(17)|skin(1) 22 Melanoma(164;0.0783) TGTTCAGCTTCCTCCTGGCTC 0.532000 132 115 0 0 0.014410 0 0 ARHGAP11A 9824 broad.mit.edu 37 15 32929996 32929996 + Missense_Mutation SNP C T T TCGA-FS-A1YW-06A-11D-A197-08 TCGA-FS-A1YW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ede8a2a-405e-4689-967b-627bff0f1496 781d7787-9f92-4774-ac27-6c679bbd3387 g.chr15:32929996C>T uc001zgy.1 + 11 3744 c.3022C>T c.(3022-3024)Cct>Tct p.P1008S ARHGAP11A_uc010ubw.1_Missense_Mutation_p.P819S|ARHGAP11A_uc010ubx.1_Missense_Mutation_p.P819S NM_014783 NP_055598 Q6P4F7 RHGBA_HUMAN Homo sapiens Rho GTPase activating protein 11A (ARHGAP11A), transcript variant 1, mRNA. 1008 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 31 all_lung(180;1.3e-11) all cancers(64;3.34e-21)|Epithelial(43;2.64e-15)|GBM - Glioblastoma multiforme(186;5.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.00112)|Lung(196;0.227) TCCAAAACATCCTATCGGAAA 0.353000 15 11 0 0 0.008291 0 0 PCDHB6 56130 broad.mit.edu 37 5 140531680 140531680 + Silent SNP C T T TCGA-FS-A1YW-06A-11D-A197-08 TCGA-FS-A1YW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ede8a2a-405e-4689-967b-627bff0f1496 781d7787-9f92-4774-ac27-6c679bbd3387 g.chr5:140531680C>T uc003lir.3 + 0 1842 c.1842C>T c.(1840-1842)ggC>ggT p.G614G NM_018939 NP_061762 Q9Y5E3 PCDB6_HUMAN Homo sapiens protocadherin beta 6 (PCDHB6), mRNA. 614 Cadherin 6. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to plasma membrane calcium ion binding p.G614S(1)|p.F613F(1) cervix(1)|endometrium(14)|kidney(6)|large_intestine(16)|liver(1)|lung(33)|ovary(1)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 84 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) GTCTGTTCGGCGTGTGGGCGC 0.667000 40 4 0 0 0.003080 0 0 MLL 4297 broad.mit.edu 37 11 118376065 118376065 + Missense_Mutation SNP G A A TCGA-FS-A1YW-06A-11D-A197-08 TCGA-FS-A1YW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ede8a2a-405e-4689-967b-627bff0f1496 781d7787-9f92-4774-ac27-6c679bbd3387 g.chr11:118376065G>A uc001pta.3 + 26 9472 c.9449G>A c.(9448-9450)aGc>aAc p.S3150N MLL_uc001ptb.3_Missense_Mutation_p.S3153N NM_005933 NP_005924 Q03164 MLL1_HUMAN Homo sapiens myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila) (MLL), transcript variant 2, mRNA. 3150 apoptosis|embryonic hemopoiesis|histone H4-K16 acetylation|positive regulation of transcription, DNA-dependent|protein complex assembly|transcription from RNA polymerase II promoter MLL1 complex AT DNA binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-K4 specific)|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|unmethylated CpG binding|zinc ion binding breast(5)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(29)|lung(34)|ovary(6)|pancreas(3)|prostate(8)|skin(6)|urinary_tract(19) 131 all_hematologic(175;0.046) all_hematologic(192;1.13e-50)|all_neural(223;3.18e-06)|Breast(348;1.07e-05)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.244) OV - Ovarian serous cystadenocarcinoma(223;2.77e-44)|BRCA - Breast invasive adenocarcinoma(274;1.2e-11)|Lung(307;3.48e-06)|LUSC - Lung squamous cell carcinoma(976;7.92e-05)|Colorectal(284;0.144) CCTTCTGCTAGCAAAGGATTG 0.473000 """T, O""" """MLL, MLLT1, MLLT2, MLLT3, MLLT4, MLLT7, MLLT10, MLLT6, ELL, EPS15, AF1Q, CREBBP, SH3GL1, FNBP1, PNUTL1, MSF, GPHN, GMPS, SSH3BP1, ARHGEF12, GAS7, FOXO3A, LAF4, LCX, SEPT6, LPP, CBFA2T1, GRAF, EP300, PICALM, HEAB""" """AML, ALL""" 17 168 0 0 0.014410 0 0 ATP13A5 344905 broad.mit.edu 37 3 193002723 193002723 + Missense_Mutation SNP C T T TCGA-FS-A1YW-06A-11D-A197-08 TCGA-FS-A1YW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ede8a2a-405e-4689-967b-627bff0f1496 781d7787-9f92-4774-ac27-6c679bbd3387 g.chr3:193002723C>T uc011bsq.2 - 26 3206 c.3206G>A c.(3205-3207)cGa>cAa p.R1069Q NM_198505 NP_940907 Q4VNC0 AT135_HUMAN Homo sapiens ATPase type 13A5 (ATP13A5), mRNA. 1069 ATP biosynthetic process|cation transport integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding NS(1)|autonomic_ganglia(2)|breast(1)|endometrium(6)|kidney(4)|large_intestine(15)|liver(2)|lung(26)|ovary(5)|prostate(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 76 all_cancers(143;1.08e-08)|Ovarian(172;0.0386) OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06) GBM - Glioblastoma multiforme(46;0.000307) GATGGGTTTTCGAAATGGCTT 0.378000 18 15 0 0 0.020292 0 0 LRP1B 53353 broad.mit.edu 37 2 140995774 140995774 + Missense_Mutation SNP C T T TCGA-FS-A1YW-06A-11D-A197-08 TCGA-FS-A1YW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ede8a2a-405e-4689-967b-627bff0f1496 781d7787-9f92-4774-ac27-6c679bbd3387 g.chr2:140995774C>T uc002tvj.1 - 88 14479 c.13507G>A c.(13507-13509)Gat>Aat p.D4503N NM_018557 NP_061027 Q9NZR2 LRP1B_HUMAN Homo sapiens low density lipoprotein receptor-related protein 1B (LRP1B), mRNA. 4503 protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5) 606 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) TCGTTGTGATCATGATCTACC 0.353000 TSP Lung(27;0.18) 11 26 0 0 0.007291 0 0 LAYN 143903 broad.mit.edu 37 11 111426015 111426015 + Splice_Site SNP G A A TCGA-FS-A1YW-06A-11D-A197-08 TCGA-FS-A1YW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ede8a2a-405e-4689-967b-627bff0f1496 781d7787-9f92-4774-ac27-6c679bbd3387 g.chr11:111426015G>A uc001plr.1 + 6 1018 c.682_splice c.e6+1 p.E228_splice LAYN_uc001plp.1_Splice_Site_p.E220_splice|LAYN_uc010rwg.1_Splice_Site_p.E75_splice|LAYN_uc010rwh.2_Splice_Site_p.E76_splice NM_178834 NP_849156 Q6UX15 LAYN_HUMAN Homo sapiens layilin (LAYN), mRNA. 228 cell surface|integral to membrane|ruffle hyaluronic acid binding|sugar binding breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(3)|skin(1) 14 all_cancers(61;9.06e-10)|all_epithelial(67;1.34e-05)|Melanoma(852;1.74e-05)|all_hematologic(158;0.000885)|Acute lymphoblastic leukemia(157;0.000966)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)|Breast(348;0.086) Epithelial(105;1.5e-06)|BRCA - Breast invasive adenocarcinoma(274;1.63e-06)|all cancers(92;2.45e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0476) AGAAAGTAGAGGTATCTACAA 0.413000 19 8 0 0 0.004482 0 0 CASP14 23581 broad.mit.edu 37 19 15164549 15164549 + Silent SNP C T T TCGA-FS-A1YW-06A-11D-A197-08 TCGA-FS-A1YW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ede8a2a-405e-4689-967b-627bff0f1496 781d7787-9f92-4774-ac27-6c679bbd3387 g.chr19:15164549C>T uc010dzv.2 + 3 395 c.183C>T c.(181-183)ttC>ttT p.F61F NM_012114 NP_036246 P31944 CASPE_HUMAN Homo sapiens caspase 14, apoptosis-related cysteine peptidase (CASP14), mRNA. 61 apoptosis|cell differentiation|epidermis development|proteolysis cytoplasm|nucleus cysteine-type endopeptidase activity NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|prostate(1)|skin(3) 26 TCCAGCAATTCCAGGAAGAGC 0.562000 38 27 0 0 0.024334 0 0 BC070322 0 broad.mit.edu 37 9 69634764 69634764 + RNA SNP T C C TCGA-FS-A1YW-06A-11D-A197-08 TCGA-FS-A1YW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ede8a2a-405e-4689-967b-627bff0f1496 781d7787-9f92-4774-ac27-6c679bbd3387 g.chr9:69634764T>C uc004afu.3 - 2 c.307A>G Homo sapiens aquaporin 7 pseudogene 2, mRNA (cDNA clone IMAGE:30406582). AGTGCGTGTGTTCCTGGCAGT 0.592000 28 7 0 0 0.010729 0 0 TAAR5 9038 broad.mit.edu 37 6 132910108 132910109 + Silent DNP GG AA AA TCGA-FS-A1YW-06A-11D-A197-08 TCGA-FS-A1YW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ede8a2a-405e-4689-967b-627bff0f1496 781d7787-9f92-4774-ac27-6c679bbd3387 g.chr6:132910108_132910109GG>AA uc003qdk.2 - 0 769_770 c.717_718CC>TT c.(715-720)agcctg>agTTtg p.239_240SL>SL NM_003967 NP_003958 O14804 TAAR5_HUMAN Homo sapiens trace amine associated receptor 5 (TAAR5), mRNA. 239 synaptic transmission integral to plasma membrane G-protein coupled receptor activity breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(15)|skin(1)|upper_aerodigestive_tract(1) 32 Breast(56;0.112) OV - Ovarian serous cystadenocarcinoma(155;0.00604)|GBM - Glioblastoma multiforme(226;0.015) GCCCCAGCCAGGCTTTTGCTCA 0.505000 12 26 0 0 0.004672 0 0 HEXIM2 124790 broad.mit.edu 37 17 43246477 43246478 + RNA DNP GG AA AA TCGA-FS-A1YW-06A-11D-A197-08 TCGA-FS-A1YW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ede8a2a-405e-4689-967b-627bff0f1496 781d7787-9f92-4774-ac27-6c679bbd3387 g.chr17:43246477_43246478GG>AA uc002iik.1 - 1 c.1742_1743CC>TT HEXIM2_uc002iih.1_Missense_Mutation_p.D55N|HEXIM2_uc010daf.1_Missense_Mutation_p.D77N|HEXIM2_uc002iii.1_Missense_Mutation_p.D55N|HEXIM2_uc002iij.1_Missense_Mutation_p.D55N Q96MH2 HEXI2_HUMAN Homo sapiens cDNA FLJ39466 fis, clone PROST2012353. negative regulation of cyclin-dependent protein kinase activity|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent cytoplasm|nucleus cyclin-dependent protein kinase inhibitor activity|protein binding|snRNA binding endometrium(1)|large_intestine(3)|lung(1) 5 GCCACTCAGAGGATGAAGATCT 0.663000 104 65 0 0 0.004672 0 0 RALGAPA2 57186 broad.mit.edu 37 20 20501653 20501653 + Missense_Mutation SNP T G G rs75943391 TCGA-FS-A1YW-06A-11D-A197-08 TCGA-FS-A1YW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ede8a2a-405e-4689-967b-627bff0f1496 781d7787-9f92-4774-ac27-6c679bbd3387 g.chr20:20501653T>G uc002wrz.3 - 30 4135 c.3992A>C c.(3991-3993)gAc>gCc p.D1331A RALGAPA2_uc002wry.3_Missense_Mutation_p.D946A|RALGAPA2_uc010zsg.2_Missense_Mutation_p.D779A|RALGAPA2_uc002wsa.1_Missense_Mutation_p.D103A NM_020343 NP_065076 Q2PPJ7 RGPA2_HUMAN Homo sapiens Ral GTPase activating protein, alpha subunit 2 (catalytic) (RALGAPA2), mRNA. 1331 activation of Ral GTPase activity cytosol|nucleus Ral GTPase activator activity|protein heterodimerization activity endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 54 CAGGAAGGGGTCATAATCCGT 0.493000 62 9 0 0 0.006122 0 0 PER1 5187 broad.mit.edu 37 17 8053945 8053945 + Missense_Mutation SNP G A A TCGA-FS-A1YW-06A-11D-A197-08 TCGA-FS-A1YW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ede8a2a-405e-4689-967b-627bff0f1496 781d7787-9f92-4774-ac27-6c679bbd3387 g.chr17:8053945G>A uc002gkd.3 - 1 318 c.80C>T c.(79-81)tCc>tTc p.S27F PER1_uc010vuq.2_Non-coding_Transcript|PER1_uc010vur.1_Intron|PER1_uc010vus.1_Missense_Mutation_p.S27F NM_002616 NP_002607 O15534 PER1_HUMAN Homo sapiens period homolog 1 (Drosophila) (PER1), mRNA. 27 circadian rhythm|entrainment of circadian clock|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus signal transducer activity breast(4)|central_nervous_system(1)|endometrium(2)|kidney(7)|large_intestine(3)|lung(15)|ovary(4)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 47 GGGCCCAGGGGATGGGACGCC 0.647000 T ETV6 """AML, CMML""" Other conserved DNA damage response genes 44 46 0 0 0.011902 0 0 EVX2 344191 broad.mit.edu 37 2 176947070 176947070 + Missense_Mutation SNP C T T TCGA-FS-A1YW-06A-11D-A197-08 TCGA-FS-A1YW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ede8a2a-405e-4689-967b-627bff0f1496 781d7787-9f92-4774-ac27-6c679bbd3387 g.chr2:176947070C>T uc010zeu.2 - 1 721 c.535G>A c.(535-537)Ggt>Agt p.G179S NM_001080458 NP_001073927 Q03828 EVX2_HUMAN Homo sapiens even-skipped homeobox 2 (EVX2), mRNA. 179 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity kidney(1)|large_intestine(3)|liver(1)|lung(8)|ovary(3) 16 OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18) READ - Rectum adenocarcinoma(9;0.0678)|Colorectal(32;0.115) CCGGAGCCACCCAGCGCCGCG 0.711000 3 4 0 0 0.014758 0 0 BASP1 10409 broad.mit.edu 37 5 17275459 17275459 + Missense_Mutation SNP C T T TCGA-FS-A1YW-06A-11D-A197-08 TCGA-FS-A1YW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ede8a2a-405e-4689-967b-627bff0f1496 781d7787-9f92-4774-ac27-6c679bbd3387 g.chr5:17275459C>T uc003jfx.3 + 1 313 c.134C>T c.(133-135)gCc>gTc p.A45V BASP1_uc021xws.1_Missense_Mutation_p.A45V NM_006317 NP_006308 P80723 BASP1_HUMAN Homo sapiens brain abundant, membrane attached signal protein 1 (BASP1), mRNA. 45 A -> P (in Ref. 1; AAC67374). glomerular visceral epithelial cell differentiation|negative regulation of transcription, DNA-dependent cytoplasm|cytoskeleton|growth cone|nuclear speck|plasma membrane protein domain specific binding|transcription corepressor activity|transcription regulatory region DNA binding endometrium(1)|lung(8) 9 CCCCAGGCGGCCGCAGAGCCC 0.677000 6 4 0 0 0.009096 0 0 RFWD3 55159 broad.mit.edu 37 16 74685906 74685906 + Silent SNP A G G TCGA-FS-A1YW-06A-11D-A197-08 TCGA-FS-A1YW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ede8a2a-405e-4689-967b-627bff0f1496 781d7787-9f92-4774-ac27-6c679bbd3387 g.chr16:74685906A>G uc002fda.3 - 2 731 c.633T>C c.(631-633)tcT>tcC p.S211S RFWD3_uc010cgq.3_Silent_p.S211S NM_018124 NP_060594 Q6PCD5 RFWD3_HUMAN Homo sapiens ring finger and WD repeat domain 3 (RFWD3), mRNA. 211 DNA repair|mitotic cell cycle G1/S transition DNA damage checkpoint|response to ionizing radiation nucleus MDM2 binding|p53 binding|ubiquitin-protein ligase activity|zinc ion binding NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1) 26 CAGAACTACTAGACACCTGCA 0.468000 67 44 0 0 0.008740 0 0 NBEA 26960 broad.mit.edu 37 13 35747690 35747690 + Nonsense_Mutation SNP C T T TCGA-FS-A1YW-06A-11D-A197-08 TCGA-FS-A1YW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ede8a2a-405e-4689-967b-627bff0f1496 781d7787-9f92-4774-ac27-6c679bbd3387 g.chr13:35747690C>T uc021rid.1 + 26 5047 c.4513C>T c.(4513-4515)Cag>Tag p.Q1505* NBEA_uc021ric.1_Nonsense_Mutation_p.Q1502*|NBEA_uc010abi.3_Nonsense_Mutation_p.Q193* NM_015678 NP_056493 Q8NFP9 NBEA_HUMAN Homo sapiens neurobeachin (NBEA), transcript variant 1, mRNA. 1505 cytosol|endomembrane system|plasma membrane|trans-Golgi network protein binding NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 108 Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207) all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199) CAGTAAACCTCAGGAAGTTCC 0.358000 42 8 0 0 0.010729 0 0 LOC100133050 100133050 broad.mit.edu 37 5 99715528 99715528 + RNA SNP C T T TCGA-FS-A1YW-06A-11D-A197-08 TCGA-FS-A1YW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ede8a2a-405e-4689-967b-627bff0f1496 781d7787-9f92-4774-ac27-6c679bbd3387 g.chr5:99715528C>T uc011cuw.1 - 3 c.382G>A Homo sapiens glucuronidase, beta pseudogene (LOC100133050), non-coding RNA. AGCGGACAGTCGAAGCCCTTC 0.607000 5 4 0 0 0.009096 0 0 KCNK9 51305 broad.mit.edu 37 8 140631316 140631316 + Missense_Mutation SNP C T T TCGA-FS-A1YW-06A-11D-A197-08 TCGA-FS-A1YW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ede8a2a-405e-4689-967b-627bff0f1496 781d7787-9f92-4774-ac27-6c679bbd3387 g.chr8:140631316C>T uc003yvf.1 - 1 374 c.310G>A c.(310-312)Gat>Aat p.D104N KCNK9_uc003yvg.1_Missense_Mutation_p.D104N|KCNK9_uc003yve.1_Non-coding_Transcript NM_016601 NP_057685 Q9NPC2 KCNK9_HUMAN Homo sapiens potassium channel, subfamily K, member 9 (KCNK9), mRNA. 104 integral to membrane|membrane fraction potassium channel activity|voltage-gated ion channel activity NS(1)|endometrium(9)|kidney(1)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1) 43 all_cancers(97;3.94e-14)|all_epithelial(106;4.81e-13)|Lung NSC(106;8.18e-05)|all_lung(105;0.00015)|Ovarian(258;0.00235)|Acute lymphoblastic leukemia(118;0.155) Ovarian(118;0.134) BRCA - Breast invasive adenocarcinoma(115;0.0855) TTGCCCGCATCGGTGCCAGGT 0.612000 26 7 0 0 0.003080 0 0 HYDIN 54768 broad.mit.edu 37 16 70891771 70891771 + Silent SNP G A A TCGA-FS-A1YW-06A-11D-A197-08 TCGA-FS-A1YW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ede8a2a-405e-4689-967b-627bff0f1496 781d7787-9f92-4774-ac27-6c679bbd3387 g.chr16:70891771G>A uc002ezr.3 - 71 12280 c.12129C>T c.(12127-12129)atC>atT p.I4043I HYDIN_uc010cfy.3_Non-coding_Transcript NM_032821 NP_116210 Q4G0P3 HYDIN_HUMAN Homo sapiens HYDIN, axonemal central pair apparatus protein (HYDIN), transcript variant 1, mRNA. 4044 breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1) 43 Ovarian(137;0.0654) ACTGGAACACGATCTAACAAG 0.478000 23 12 0 0 0.010729 0 0 PDE2A 5138 broad.mit.edu 37 11 72297156 72297156 + Silent SNP G A A TCGA-FS-A1YW-06A-11D-A197-08 TCGA-FS-A1YW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ede8a2a-405e-4689-967b-627bff0f1496 781d7787-9f92-4774-ac27-6c679bbd3387 g.chr11:72297156G>A uc010rrc.2 - 13 1386 c.1140C>T c.(1138-1140)acC>acT p.T380T PDE2A_uc001oso.3_Silent_p.T359T|PDE2A_uc010rra.2_Silent_p.T373T|PDE2A_uc001osn.3_Silent_p.T124T|PDE2A_uc010rrb.2_Silent_p.T371T|PDE2A_uc010rrd.2_Silent_p.T265T NM_002599 NP_002590 O00408 PDE2A_HUMAN Homo sapiens phosphodiesterase 2A, cGMP-stimulated (PDE2A), transcript variant 1, mRNA. 380 platelet activation|signal transduction cytosol 3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|cGMP-stimulated cyclic-nucleotide phosphodiesterase activity|metal ion binding breast(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(21)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 36 BRCA - Breast invasive adenocarcinoma(5;3.55e-05) Sildenafil(DB00203)|Sulindac(DB00605) GGAAGGCCAGGGTGCTGGTGA 0.607000 OREG0021196 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 181 46 0 0 0.014410 0 0 CYP2C9 1559 broad.mit.edu 37 10 96707648 96707648 + Missense_Mutation SNP G A A TCGA-FS-A1YW-06A-11D-A197-08 TCGA-FS-A1YW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ede8a2a-405e-4689-967b-627bff0f1496 781d7787-9f92-4774-ac27-6c679bbd3387 g.chr10:96707648G>A uc001kka.4 + 3 619 c.594G>A c.(592-594)atG>atA p.M198I CYP2C9_uc009xut.3_Missense_Mutation_p.M198I NM_000771 NP_000762 P11712 CP2C9_HUMAN Homo sapiens cytochrome P450, family 2, subfamily C, polypeptide 9 (CYP2C9), mRNA. 198 exogenous drug catabolic process|monocarboxylic acid metabolic process|monoterpenoid metabolic process|oxidative demethylation|steroid metabolic process|urea metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome (S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|caffeine oxidase activity|drug binding|electron carrier activity|heme binding|oxygen binding|steroid hydroxylase activity breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 34 Colorectal(252;0.0902) all cancers(201;6.93e-05) Acenocoumarol(DB01418)|Alosetron(DB00969)|Amiodarone(DB01118)|Antihemophilic Factor(DB00025)|Aprepitant(DB00673)|Bosentan(DB00559)|Carprofen(DB00821)|Carvedilol(DB01136)|Celecoxib(DB00482)|Clomipramine(DB01242)|Dapsone(DB00250)|Delavirdine(DB00705)|Desloratadine(DB00967)|Desogestrel(DB00304)|Diclofenac(DB00586)|Esomeprazole(DB00736)|Etodolac(DB00749)|Fluconazole(DB00196)|Fluoxetine(DB00472)|Flurbiprofen(DB00712)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Gemfibrozil(DB01241)|Ginkgo biloba(DB01381)|Glibenclamide(DB01016)|Glimepiride(DB00222)|Glipizide(DB01067)|Guanfacine(DB01018)|Hydromorphone(DB00327)|Ibuprofen(DB01050)|Imipramine(DB00458)|Irbesartan(DB01029)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Losartan(DB00678)|Lumiracoxib(DB01283)|Marinol(DB00470)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mephenytoin(DB00532)|Metronidazole(DB00916)|Miconazole(DB01110)|Midazolam(DB00683)|Montelukast(DB00471)|Nateglinide(DB00731)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Oxymorphone(DB01192)|Pantoprazole(DB00213)|Paramethadione(DB00617)|Phenprocoumon(DB00946)|Phenytoin(DB00252)|Pravastatin(DB00175)|Quinidine(DB00908)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Sertraline(DB01104)|Sildenafil(DB00203)|Sulfamethoxazole(DB01015)|Suprofen(DB00870)|Tamoxifen(DB00675)|Tenoxicam(DB00469)|Terfenadine(DB00342)|Tolbutamide(DB01124)|Torasemide(DB00214)|Troleandomycin(DB01361)|Valdecoxib(DB00580)|Valsartan(DB00177)|Voriconazole(DB00582)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zileuton(DB00744) TTAACTTAATGGAAAAGTTGA 0.378000 38 36 0 0 0.015359 0 0 ATP2A2 488 broad.mit.edu 37 12 110781221 110781221 + Missense_Mutation SNP C T T TCGA-FS-A1YW-06A-11D-A197-08 TCGA-FS-A1YW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ede8a2a-405e-4689-967b-627bff0f1496 781d7787-9f92-4774-ac27-6c679bbd3387 g.chr12:110781221C>T uc001tqk.4 + 15 3066 c.2503C>T c.(2503-2505)Cgt>Tgt p.R835C ATP2A2_uc001tql.4_Missense_Mutation_p.R835C|ATP2A2_uc021rdt.1_Missense_Mutation_p.R683C|ATP2A2_uc001tqn.4_5'Flank|ATP2A2_uc009zvn.3_5'Flank NM_170665 NP_733765 P16615 AT2A2_HUMAN Homo sapiens ATPase, Ca++ transporting, cardiac muscle, slow twitch 2 (ATP2A2), transcript variant b, mRNA. 835 ATP biosynthetic process|cell adhesion|epidermis development|platelet activation|sarcoplasmic reticulum calcium ion transport integral to plasma membrane|microsome|platelet dense tubular network membrane|sarcoplasmic reticulum membrane ATP binding|S100 alpha binding|calcium-transporting ATPase activity|protein C-terminus binding NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(10)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1) 38 GCTCTTTTTCCGTTACTTGGC 0.418000 59 39 0 0 0.009718 0 0 SGOL2 151246 broad.mit.edu 37 2 201438005 201438005 + Missense_Mutation SNP C T T TCGA-FS-A1YW-06A-11D-A197-08 TCGA-FS-A1YW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ede8a2a-405e-4689-967b-627bff0f1496 781d7787-9f92-4774-ac27-6c679bbd3387 g.chr2:201438005C>T uc002uvw.2 + 6 3049 c.2936C>T c.(2935-2937)tCc>tTc p.S979F SGOL2_uc010zhd.1_Missense_Mutation_p.S979F|SGOL2_uc010zhe.1_Missense_Mutation_p.S979F NM_152524 NP_689737 Q562F6 SGOL2_HUMAN Homo sapiens shugoshin-like 2 (S. pombe) (SGOL2), transcript variant 1, mRNA. 979 cell division|mitotic prometaphase condensed chromosome kinetochore|cytosol|mitotic cohesin complex protein binding NS(2)|breast(2)|cervix(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2) 46 ATTTTAGATTCCTACAAAGTA 0.294000 8 26 0 0 0.018920 0 0 OR52B2 255725 broad.mit.edu 37 11 6190887 6190887 + Missense_Mutation SNP G A A TCGA-FS-A1YW-06A-11D-A197-08 TCGA-FS-A1YW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ede8a2a-405e-4689-967b-627bff0f1496 781d7787-9f92-4774-ac27-6c679bbd3387 g.chr11:6190887G>A uc010qzy.2 - 0 670 c.670C>T c.(670-672)Ctc>Ttc p.L224F NM_001004052 NP_001004052 Q96RD2 O52B2_HUMAN Homo sapiens olfactory receptor, family 52, subfamily B, member 2 (OR52B2), mRNA. 224 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|central_nervous_system(3)|endometrium(1)|large_intestine(1)|lung(15) 21 Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114) Epithelial(150;3.69e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135) ACTGCTCGGAGGATCAGTGAG 0.498000 38 23 0 0 0.014323 0 0 LRRC4C 57689 broad.mit.edu 37 11 40137497 40137497 + Missense_Mutation SNP C T T TCGA-FS-A1YW-06A-11D-A197-08 TCGA-FS-A1YW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ede8a2a-405e-4689-967b-627bff0f1496 781d7787-9f92-4774-ac27-6c679bbd3387 g.chr11:40137497C>T uc021qgf.1 - 0 346 c.346G>A c.(346-348)Gaa>Aaa p.E116K LRRC4C_uc001mxc.1_Missense_Mutation_p.E112K|LRRC4C_uc001mxd.1_Missense_Mutation_p.E112K|LRRC4C_uc001mxa.1_Missense_Mutation_p.E116K|LRRC4C_uc001mxb.1_Missense_Mutation_p.E112K NM_020929 NP_065980 Q9HCJ2 LRC4C_HUMAN Homo sapiens leucine rich repeat containing 4C (LRRC4C), mRNA. 116 regulation of axonogenesis integral to membrane protein binding NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 86 all_lung(304;0.0575)|Lung NSC(402;0.138) GCCCCAATTTCAATGGTTCTG 0.428000 33 23 0 0 0.012319 0 0 TRIM3 10612 broad.mit.edu 37 11 6477849 6477849 + Silent SNP C T T TCGA-FS-A1YW-06A-11D-A197-08 TCGA-FS-A1YW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ede8a2a-405e-4689-967b-627bff0f1496 781d7787-9f92-4774-ac27-6c679bbd3387 g.chr11:6477849C>T uc001mdh.3 - 6 1503 c.1107G>A c.(1105-1107)ccG>ccA p.P369P TRIM3_uc001mdi.3_Silent_p.P369P|TRIM3_uc010raj.2_Silent_p.P250P|TRIM3_uc009yfd.3_Silent_p.P369P|TRIM3_uc010rak.1_Silent_p.P369P|TRIM3_uc001mdj.2_Silent_p.P250P NM_006458 NP_006449 O75382 TRIM3_HUMAN Homo sapiens tripartite motif containing 3 (TRIM3), transcript variant 1, mRNA. 369 nervous system development|protein transport early endosome protein C-terminus binding|zinc ion binding breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(3) 27 all_lung(207;9.97e-06)|Lung NSC(207;1.74e-05)|Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212) Epithelial(150;9.34e-10)|Lung(200;0.0234)|LUSC - Lung squamous cell carcinoma(625;0.133)|BRCA - Breast invasive adenocarcinoma(625;0.135) GCGTGCCGTCCGGGCCGGTGA 0.642000 27 33 0 0 0.017118 0 0 CYP4A22 284541 broad.mit.edu 37 1 47611598 47611601 + Frame_Shift_Del DEL TAGA - - rs2405599 byFrequency TCGA-FS-A1YW-06A-11D-A197-08 TCGA-FS-A1YW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ede8a2a-405e-4689-967b-627bff0f1496 781d7787-9f92-4774-ac27-6c679bbd3387 g.chr1:47611598_47611601delTAGA uc001cqv.1 + 9 1334_1337 c.1283_1286delTAGA c.(1282-1287)ctagagfs p.L428fs CYP4A22_uc009vyo.3_Frame_Shift_Del_p.L428fs|CYP4A22_uc009vyp.3_Frame_Shift_Del_p.L330fs NM_001010969 NP_001010969 Q5TCH4 CP4AM_HUMAN Homo sapiens cytochrome P450, family 4, subfamily A, polypeptide 22 (CYP4A22), mRNA. 428 L -> P (in allele CYP4A22*6, allele CYP4A22*9, allele CYP4A22*10, allele CYP4A22*12, allele CYP4A22*13 and allele CYP4A22*15; dbSNP:rs2405599). endoplasmic reticulum membrane|microsome alkane 1-monooxygenase activity|electron carrier activity|heme binding breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 22 TGGCCCAACCTAGAGGTATGTGGT 0.510 --- 209 --- --- 105 --- KRTCAP2 200185 broad.mit.edu 37 1 155145290 155145291 + Frame_Shift_Ins INS - G G TCGA-FS-A1YW-06A-11D-A197-08 TCGA-FS-A1YW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ede8a2a-405e-4689-967b-627bff0f1496 781d7787-9f92-4774-ac27-6c679bbd3387 g.chr1:155145290_155145291insG uc001fho.3 - 1 186_187 c.160_161insC c.(160-162)cgtfs p.R54fs KRTCAP2_uc001fhp.1_Frame_Shift_Ins_p.R54fs|TRIM46_uc009wpe.1_5'Flank|TRIM46_uc010pez.1_5'Flank|TRIM46_uc001fhq.3_5'Flank|TRIM46_uc001fhr.3_5'Flank|TRIM46_uc001fhs.1_5'Flank|TRIM46_uc001fht.1_5'Flank|TRIM46_uc010pfa.1_5'Flank|TRIM46_uc001fhu.1_5'Flank|TRIM46_uc009wpg.1_5'Flank|TRIM46_uc009wpf.2_5'Flank|TRIM46_uc001fhw.1_5'Flank NM_173852 NP_776251 Q8N6L1 KTAP2_HUMAN Homo sapiens keratinocyte associated protein 2 (KRTCAP2), mRNA. 54 integral to membrane endometrium(2)|large_intestine(1)|lung(1) 4 all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877) Epithelial(20;3.18e-10)|all cancers(21;8.39e-10)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193) GGCCAGCTGACGGCTGTACATC 0.639 --- 28 --- --- 32 --- SFRP2 6423 broad.mit.edu 37 4 154709955 154709956 + In_Frame_Ins INS - AGC AGC TCGA-FS-A1YW-06A-11D-A197-08 TCGA-FS-A1YW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ede8a2a-405e-4689-967b-627bff0f1496 781d7787-9f92-4774-ac27-6c679bbd3387 g.chr4:154709955_154709956insAGC uc003inv.1 - 0 273_274 c.32_33insGCT c.(31-33)ctc>ctGCTc p.11_11L>LL NM_003013 NP_003004 Q96HF1 SFRP2_HUMAN Homo sapiens secreted frizzled-related protein 2 (SFRP2), mRNA. 11 brain development|cardiac left ventricle morphogenesis|cell-cell signaling|dermatome development|hemopoietic stem cell proliferation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell growth|negative regulation of cell migration|negative regulation of epithelial cell proliferation|negative regulation of epithelial to mesenchymal transition|negative regulation of peptidyl-tyrosine phosphorylation|negative regulation of transcription, DNA-dependent|outflow tract morphogenesis|patterning of blood vessels|positive regulation of angiogenesis|positive regulation of anti-apoptosis|positive regulation of apoptosis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell adhesion mediated by integrin|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of fat cell differentiation|positive regulation of peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter|regulation of stem cell division|sclerotome development cytoplasm|extracellular matrix|extracellular space|plasma membrane PDZ domain binding|Wnt receptor activity|Wnt-protein binding|fibronectin binding|integrin binding|receptor agonist activity breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(1)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1) 16 all_hematologic(180;0.093) Renal(120;0.117) AGGCGAGGAAGAGCAGCAGCAG 0.708 --- 20 --- --- 8 --- HRCT1 646962 broad.mit.edu 37 9 35906595 35906596 + In_Frame_Ins INS - CCC CCC rs58509439 TCGA-FS-A1YW-06A-11D-A197-08 TCGA-FS-A1YW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ede8a2a-405e-4689-967b-627bff0f1496 781d7787-9f92-4774-ac27-6c679bbd3387 g.chr9:35906595_35906596insCCC uc003zyr.1 + 0 407_408 c.311_312insCCC c.(310-312)cac>caCCCc p.104_105insP LOC158376_uc003zys.1_5'Flank NM_001039792 NP_001034881 Q6UXD1 HRCT1_HUMAN Homo sapiens histidine rich carboxyl terminus 1 (HRCT1), mRNA. 104 His-rich. integral to membrane NS(1)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|prostate(1) 4 caccaccaccaccacccccacc 0.673 --- 23 --- --- 9 --- RSPH6A 81492 broad.mit.edu 37 19 46299147 46299149 + In_Frame_Del DEL CCT - - TCGA-FS-A1YW-06A-11D-A197-08 TCGA-FS-A1YW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ede8a2a-405e-4689-967b-627bff0f1496 781d7787-9f92-4774-ac27-6c679bbd3387 g.chr19:46299147_46299149delCCT uc002pdm.3 - 5 2303_2305 c.2132_2134delAGG c.(2131-2136)gagggc>ggc p.E711del RSPH6A_uc002pdl.3_In_Frame_Del_p.E447del NM_030785 NP_110412 Q9H0K4 RSH6A_HUMAN Homo sapiens radial spoke head 6 homolog A (Chlamydomonas) (RSPH6A), mRNA. 711 Glu-rich. intracellular central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2) 32 GTctcctcgccctcctcctcctc 0.557 --- 151 --- --- 9 ---