Hugo_Symbol Entrez_Gene_Id Center NCBI_Build Chromosome Start_position End_position Strand Variant_Classification Variant_Type Reference_Allele Tumor_Seq_Allele1 Tumor_Seq_Allele2 dbSNP_RS dbSNP_Val_Status Tumor_Sample_Barcode Matched_Norm_Sample_Barcode Match_Norm_Seq_Allele1 Match_Norm_Seq_Allele2 Tumor_Validation_Allele1 Tumor_Validation_Allele2 Match_Norm_Validation_Allele1 Match_Norm_Validation_Allele2 Verification_Status Validation_Status Mutation_Status Sequencing_Phase Sequence_Source Validation_Method Score BAM_file Sequencer Tumor_Sample_UUID Matched_Norm_Sample_UUID Genome_Change Annotation_Transcript Transcript_Strand Transcript_Exon Transcript_Position cDNA_Change Codon_Change Protein_Change Other_Transcripts Refseq_mRNA_Id Refseq_prot_Id SwissProt_acc_Id SwissProt_entry_Id Description UniProt_AApos UniProt_Region UniProt_Site UniProt_Natural_Variations UniProt_Experimental_Info GO_Biological_Process GO_Cellular_Component GO_Molecular_Function COSMIC_overlapping_mutations COSMIC_fusion_genes COSMIC_tissue_types_affected COSMIC_total_alterations_in_gene Tumorscape_Amplification_Peaks Tumorscape_Deletion_Peaks TCGAscape_Amplification_Peaks TCGAscape_Deletion_Peaks DrugBank ref_context gc_content CCLE_ONCOMAP_overlapping_mutations CCLE_ONCOMAP_total_mutations_in_gene CGC_Mutation_Type CGC_Translocation_Partner CGC_Tumor_Types_Somatic CGC_Tumor_Types_Germline CGC_Other_Diseases DNARepairGenes_Role FamilialCancerDatabase_Syndromes MUTSIG_Published_Results OREGANNO_ID OREGANNO_Values t_alt_count t_ref_count validation_alt_allele validation_method validation_status validation_tumor_sample pox qox pox_cutoff isArtifactMode oxoGCut NFATC4 4776 broad.mit.edu 37 14 24845892 24845892 + Missense_Mutation SNP C C T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr14:24845892C>T ENST00000413692.2 + 10 2782 c.2638C>T c.(2638-2640)Cct>Tct p.P880S NFATC4_ENST00000555802.1_Missense_Mutation_p.P105S|NFATC4_ENST00000554344.1_Missense_Mutation_p.P747S|NFATC4_ENST00000553879.1_Missense_Mutation_p.P747S|NFATC4_ENST00000554661.1_Intron|NFATC4_ENST00000555167.1_Missense_Mutation_p.P352S|NFATC4_ENST00000554966.1_Intron|NFATC4_ENST00000556279.1_Missense_Mutation_p.P849S|NFATC4_ENST00000555590.1_Missense_Mutation_p.P830S|NFATC4_ENST00000555393.1_Missense_Mutation_p.P105S|NFATC4_ENST00000554050.1_Intron|NFATC4_ENST00000553469.1_Intron|NFATC4_ENST00000555453.1_Missense_Mutation_p.P805S|NFATC4_ENST00000539237.2_Missense_Mutation_p.P849S|NFATC4_ENST00000556169.1_Intron|NFATC4_ENST00000556759.1_Missense_Mutation_p.P352S|NFATC4_ENST00000554473.1_Intron|NFATC4_ENST00000557767.1_Intron|NFATC4_ENST00000553708.1_Missense_Mutation_p.P817S|NFATC4_ENST00000554591.1_Intron|NFATC4_ENST00000424781.2_Missense_Mutation_p.P830S|NFATC4_ENST00000422617.3_Missense_Mutation_p.P805S|NFATC4_ENST00000557451.1_Missense_Mutation_p.P747S|NFATC4_ENST00000250373.4_Missense_Mutation_p.P817S NM_001136022.1|NM_001198967.1 NP_001129494.1|NP_001185896.1 Q14934 NFAC4_HUMAN nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 4 817 cell differentiation|inflammatory response|transcription from RNA polymerase II promoter cytoplasm|intermediate filament cytoskeleton|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(7)|liver(4)|lung(12)|ovary(1)|skin(2) 34 GBM - Glioblastoma multiforme(265;0.018) GCCTCCTCTTCCTGCATCCCC 0.642000 35 143 0 0 1 0 0 PKD1L1 168507 broad.mit.edu 37 7 47853608 47853608 + Missense_Mutation SNP C C A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr7:47853608C>A ENST00000289672.2 - 48 7144 c.7094G>T c.(7093-7095)gGa>gTa p.G2365V C7orf69_ENST00000418326.2_Intron|C7orf69_ENST00000258776.4_Intron NM_138295.3 NP_612152.1 Q8TDX9 PK1L1_HUMAN polycystic kidney disease 1 like 1 2365 cell-cell adhesion integral to membrane BBS9/PKD1L1(2) NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5) 142 TCCAAGAGCTCCAGGCTGAAA 0.458000 12 34 0.00010058 0.000101336 1 1 0 RNF128 79589 broad.mit.edu 37 X 106034423 106034423 + Missense_Mutation SNP G G A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chrX:106034423G>A ENST00000255499.2 + 6 1362 c.1112G>A c.(1111-1113)gGa>gAa p.G371E RNF128_ENST00000324342.3_Missense_Mutation_p.G345E NM_194463.1 NP_919445.1 Q8TEB7 RN128_HUMAN ring finger protein 128, E3 ubiquitin protein ligase 371 endomembrane system|integral to membrane|perinuclear region of cytoplasm zinc ion binding central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(6)|ovary(1) 11 TCAGTACAGGGAACAGATGAA 0.458000 47 176 0 0 1 0 0 WWTR1 25937 broad.mit.edu 37 3 149374934 149374934 + Missense_Mutation SNP T T C TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr3:149374934T>C ENST00000465804.1 - 3 416 c.160A>G c.(160-162)Aag>Gag p.K54E WWTR1_ENST00000467467.1_Missense_Mutation_p.K54E|WWTR1-AS1_ENST00000495094.1_RNA|WWTR1-AS1_ENST00000466836.1_RNA|WWTR1_ENST00000360632.3_Missense_Mutation_p.K54E NM_001168278.1 NP_001161750.1 Q9GZV5 WWTR1_HUMAN WW domain containing transcription regulator 1 54 hippo signaling cascade|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of protein kinase activity|negative regulation of protein phosphorylation|positive regulation of cell proliferation|positive regulation of epithelial to mesenchymal transition|regulation of SMAD protein import into nucleus|stem cell division|transcription, DNA-dependent cytoplasm transcription coactivator activity breast(5)|cervix(1)|endometrium(2)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1) 23 LUSC - Lung squamous cell carcinoma(72;0.0378)|Lung(72;0.048) TCAGGCTCCTTAAAGAAAGAC 0.632000 T CAMTA1 epitheliod hemangioendothelioma 4 9 0 0 1 0 0 MYOC 4653 broad.mit.edu 37 1 171621186 171621186 + Missense_Mutation SNP C C T rs144579767 TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr1:171621186C>T ENST00000037502.5 - 1 625 c.566G>A c.(565-567)cGa>cAa p.R189Q NM_000261.1 NP_000252.1 Q99972 MYOC_HUMAN myocilin, trabecular meshwork inducible glucocorticoid response 189 R -> Q. anatomical structure morphogenesis cilium|extracellular space|rough endoplasmic reticulum structural molecule activity p.R189L(1) breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|prostate(1)|urinary_tract(2) 28 all_cancers(6;5.47e-10)|all_hematologic(923;0.088)|Acute lymphoblastic leukemia(37;0.181) AGCAGTGTCTCGGGTCTGGGG 0.567000 67 242 0 0 1 0 0 DYSF 8291 broad.mit.edu 37 2 71896784 71896784 + Missense_Mutation SNP C C T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr2:71896784C>T ENST00000258104.3 + 50 5852 c.5575C>T c.(5575-5577)Cgt>Tgt p.R1859C DYSF_ENST00000394120.2_Missense_Mutation_p.R1860C|DYSF_ENST00000409366.1_Missense_Mutation_p.R1881C|DYSF_ENST00000409762.1_Missense_Mutation_p.R1876C|DYSF_ENST00000409651.1_Missense_Mutation_p.R1891C|DYSF_ENST00000410041.1_Missense_Mutation_p.R1877C|DYSF_ENST00000413539.2_Missense_Mutation_p.R1890C|DYSF_ENST00000409582.3_Missense_Mutation_p.R1897C|DYSF_ENST00000479049.2_3'UTR|DYSF_ENST00000409744.1_Missense_Mutation_p.R1867C|DYSF_ENST00000410020.3_Missense_Mutation_p.R1898C|DYSF_ENST00000429174.2_Missense_Mutation_p.R1880C NM_001130976.1|NM_003494.3 NP_001124448.1|NP_003485.1 O75923 DYSF_HUMAN dysferlin 1859 cytoplasmic vesicle membrane|integral to membrane|sarcolemma calcium-dependent phospholipid binding autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2) 111 CGTGCATTATCGTTCCCTGGG 0.438000 29 102 0 0 1 0 0 SEC24B 10427 broad.mit.edu 37 4 110442725 110442725 + Silent SNP C C T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr4:110442725C>T ENST00000265175.5 + 14 2506 c.2451C>T c.(2449-2451)tcC>tcT p.S817S SEC24B_ENST00000399100.2_Silent_p.S782S|SEC24B_ENST00000504968.2_Silent_p.S847S NM_006323.2 NP_006314.2 O95487 SC24B_HUMAN SEC24 family member B 817 COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm protein binding|transporter activity|zinc ion binding breast(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(12)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;3.03e-05) AGTTACCTTCCTTGGGTGCAG 0.413000 15 41 0 0 1 0 0 WNT9A 7483 broad.mit.edu 37 1 228109337 228109337 + Missense_Mutation SNP C C T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr1:228109337C>T ENST00000272164.5 - 4 990 c.980G>A c.(979-981)gGc>gAc p.G327D WNT9A_ENST00000497852.1_Intron NM_003395.2 NP_003386.1 O14904 WNT9A_HUMAN wingless-type MMTV integration site family, member 9A 327 anterior/posterior pattern formation|axis specification|canonical Wnt receptor signaling pathway|cell-cell signaling|cellular response to retinoic acid|cornea development in camera-type eye|embryonic arm morphogenesis|embryonic skeletal joint morphogenesis|endoderm development|iris morphogenesis|mitotic cell cycle G1/S transition checkpoint|negative regulation of cell proliferation|negative regulation of chondrocyte differentiation|neuron differentiation|positive regulation of smoothened signaling pathway|Wnt receptor signaling pathway, calcium modulating pathway extracellular space|plasma membrane|proteinaceous extracellular matrix extracellular matrix structural constituent|G-protein-coupled receptor binding|signal transducer activity breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|pancreas(1)|prostate(2)|skin(1) 19 Prostate(94;0.0405) TGTGTTATGGCCGCGGCCACA 0.657000 8 36 0 0 1 0 0 DPP3 10072 broad.mit.edu 37 11 66254125 66254125 + Nonsense_Mutation SNP C C T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr11:66254125C>T ENST00000532677.1 + 4 933 c.532C>T c.(532-534)Cga>Tga p.R178* DPP3_ENST00000453114.1_Nonsense_Mutation_p.R159*|DPP3_ENST00000360510.2_Nonsense_Mutation_p.R159*|DPP3_ENST00000541961.1_Nonsense_Mutation_p.R159*|DPP3_ENST00000531863.1_Nonsense_Mutation_p.R179*|DPP3_ENST00000530165.1_Nonsense_Mutation_p.R129* NM_001256670.1|NM_005700.4|NM_130443.3 NP_001243599.1|NP_005691.2|NP_569710.2 Q9NY33 DPP3_HUMAN dipeptidyl-peptidase 3 159 proteolysis cytoplasm aminopeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1) 23 GCCAAGGCTTCGACACCTCGG 0.622000 24 73 0 0 1 0 0 FBXW7 55294 broad.mit.edu 37 4 153332598 153332598 + Nonsense_Mutation SNP G G A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr4:153332598G>A ENST00000281708.4 - 2 1587 c.358C>T c.(358-360)Cag>Tag p.Q120* FBXW7_ENST00000603548.1_Nonsense_Mutation_p.Q120*|FBXW7_ENST00000604872.1_Nonsense_Mutation_p.Q120*|FBXW7_ENST00000603841.1_Nonsense_Mutation_p.Q120* NM_033632.3 NP_361014.1 Q969H0 FBXW7_HUMAN F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase 120 interspecies interaction between organisms|lipid homeostasis|negative regulation of DNA endoreduplication|negative regulation of hepatocyte proliferation|negative regulation of Notch signaling pathway|negative regulation of triglyceride biosynthetic process|positive regulation of epidermal growth factor receptor activity|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|protein ubiquitination|regulation of lipid storage|regulation of protein localization|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|sister chromatid cohesion|vasculature development nucleolus|nucleoplasm|SCF ubiquitin ligase complex protein binding NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6) 462 all_hematologic(180;0.093) Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067) TCACTCTCCTGGTCCATctcc 0.463000 """Mis, N, D, F""" """colorectal, endometrial, T-ALL""" 13 57 0 0 1 0 0 CYP3A4 1576 broad.mit.edu 37 7 99365994 99365994 + Missense_Mutation SNP G G A rs55901263 TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr7:99365994G>A ENST00000354593.2 - 2 306 c.203C>T c.(202-204)cCa>cTa p.P68L CYP3A4_ENST00000336411.2_Missense_Mutation_p.P218L P08684 CP3A4_HUMAN cytochrome P450, family 3, subfamily A, polypeptide 4 218 alkaloid catabolic process|androgen metabolic process|exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|oxidative demethylation|steroid catabolic process|xenobiotic metabolic process cell surface|endoplasmic reticulum membrane|integral to membrane|microsome albendazole monooxygenase activity|caffeine oxidase activity|electron carrier activity|enzyme binding|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen|oxygen binding|quinine 3-monooxygenase activity|steroid binding|taurochenodeoxycholate 6alpha-hydroxylase activity|testosterone 6-beta-hydroxylase activity|vitamin D 24-hydroxylase activity|vitamin D3 25-hydroxylase activity breast(3)|central_nervous_system(3)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|skin(2) 18 Lung NSC(181;0.0144)|Esophageal squamous(72;0.0166)|all_lung(186;0.0228) Albendazole(DB00518)|Alclometasone(DB00240)|Alfentanil(DB00802)|Alfuzosin(DB00346)|Aliskiren(DB01258)|Almotriptan(DB00918)|Alosetron(DB00969)|Alprazolam(DB00404)|Amlodipine(DB00381)|Amprenavir(DB00701)|Aprepitant(DB00673)|Aripiprazole(DB01238)|Astemizole(DB00637)|Atazanavir(DB01072)|Atorvastatin(DB01076)|Benazepril(DB00542)|Bepridil(DB01244)|Betamethasone(DB00443)|Bexarotene(DB00307)|Bortezomib(DB00188)|Bosentan(DB00559)|Bromocriptine(DB01200)|Budesonide(DB01222)|Bupivacaine(DB00297)|Buprenorphine(DB00921)|Buspirone(DB00490)|Busulfan(DB01008)|Carbamazepine(DB00564)|Cevimeline(DB00185)|Chlorpheniramine(DB01114)|Ciclesonide(DB01410)|Cilostazol(DB01166)|Cinacalcet(DB01012)|Cisapride(DB00604)|Clarithromycin(DB01211)|Clindamycin(DB01190)|Clofibrate(DB00636)|Clonazepam(DB01068)|Clopidogrel(DB00758)|Cocaine(DB00907)|Conivaptan(DB00872)|Conjugated Estrogens(DB00286)|Cyproterone(DB04839)|Darifenacin(DB00496)|Darunavir(DB01264)|Dasatinib(DB01254)|Delavirdine(DB00705)|Desogestrel(DB00304)|Dexamethasone(DB01234)|Diazepam(DB00829)|Dihydroergotamine(DB00320)|Diltiazem(DB00343)|Diphenhydramine(DB01075)|Disopyramide(DB00280)|Dofetilide(DB00204)|Dolasetron(DB00757)|Domperidone(DB01184)|Donepezil(DB00843)|Doxorubicin(DB00997)|Drospirenone(DB01395)|Dutasteride(DB01126)|Efavirenz(DB00625)|Eletriptan(DB00216)|Enalapril(DB00584)|Epirubicin(DB00445)|Eplerenone(DB00700)|Ergotamine(DB00696)|Erlotinib(DB00530)|Erythromycin(DB00199)|Escitalopram(DB01175)|Esomeprazole(DB00736)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethinyl Estradiol(DB00977)|Ethosuximide(DB00593)|Etonogestrel(DB00294)|Etoposide(DB00773)|Etoricoxib(DB01628)|Exemestane(DB00990)|Felodipine(DB01023)|Fentanyl(DB00813)|Fexofenadine(DB00950)|Finasteride(DB01216)|Fluconazole(DB00196)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Fosamprenavir(DB01319)|Fulvestrant(DB00947)|Galantamine(DB00674)|Gefitinib(DB00317)|Gemfibrozil(DB01241)|Granisetron(DB00889)|Grepafloxacin(DB00365)|Halofantrine(DB01218)|Hydrocodone(DB00956)|Hydrocortamate(DB00769)|Hydrocortisone(DB00741)|Hydromorphone(DB00327)|Imatinib(DB00619)|Indinavir(DB00224)|Ipratropium(DB00332)|Irinotecan(DB00762)|Isosorbide Dinitrate(DB00883)|Isosorbide Mononitrate(DB01020)|Isradipine(DB00270)|Itraconazole(DB01167)|Ketoconazole(DB01026)|Lapatinib(DB01259)|Lercanidipine(DB00528)|Letrozole(DB01006)|Levobupivacaine(DB01002)|Levomethadyl Acetate(DB01227)|Levothyroxine(DB00451)|Lomustine(DB01206)|Loperamide(DB00836)|Lopinavir(DB01601)|Loratadine(DB00455)|Losartan(DB00678)|Lovastatin(DB00227)|Maraviroc(DB04835)|Marinol(DB00470)|Mebendazole(DB00643)|Medroxyprogesterone(DB00603)|Methadone(DB00333)|Methylprednisolone(DB00959)|Metyrapone(DB01011)|Mibefradil(DB01388)|Midazolam(DB00683)|Mifepristone(DB00834)|Mirtazapine(DB00370)|Modafinil(DB00745)|Mometasone(DB00764)|Montelukast(DB00471)|Nateglinide(DB00731)|Nefazodone(DB01149)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Norethindrone(DB00717)|Norgestrel(DB00506)|Nystatin(DB00646)|Ondansetron(DB00904)|Oxybutynin(DB01062)|Paclitaxel(DB01229)|Paliperidone(DB01267)|Palonosetron(DB00377)|Pantoprazole(DB00213)|Paricalcitol(DB00910)|Phenmetrazine(DB00830)|Pimecrolimus(DB00337)|Pimozide(DB01100)|Pioglitazone(DB01132)|Posaconazole(DB01263)|Pranlukast(DB01411)|Prednisolone(DB00860)|Prednisone(DB00635)|Prochlorperazine(DB00433)|Quetiapine(DB01224)|Quinapril(DB00881)|Quinine(DB00468)|Rabeprazole(DB01129)|Ranolazine(DB00243)|Reboxetine(DB00234)|Retapamulin(DB01256)|Rifabutin(DB00615)|Rifampin(DB01045)|Rimonabant(DB06155)|Ritonavir(DB00503)|Rofecoxib(DB00533)|Roxithromycin(DB00778)|Salmeterol(DB00938)|Saquinavir(DB01232)|Sertindole(DB06144)|Sibutramine(DB01105)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sitagliptin(DB01261)|Solifenacin(DB01591)|Sorafenib(DB00398)|Sunitinib(DB01268)|Tacrolimus(DB00864)|Tadalafil(DB00820)|Tamoxifen(DB00675)|Telithromycin(DB00976)|Terconazole(DB00251)|Terfenadine(DB00342)|Testosterone(DB00624)|Tiagabine(DB00906)|Ticlopidine(DB00208)|Tinidazole(DB00911)|Tiotropium(DB01409)|Tipranavir(DB00932)|Toremifene(DB00539)|Triazolam(DB00897)|Trimetrexate(DB01157)|Troglitazone(DB00197)|Valdecoxib(DB00580)|Vardenafil(DB00862)|Vinblastine(DB00570)|Vincristine(DB00541)|Vindesine(DB00309)|Vinorelbine(DB00361)|Voriconazole(DB00582)|Zaleplon(DB00962)|Zileuton(DB00744)|Ziprasidone(DB00246)|Zolpidem(DB00425)|Zonisamide(DB00909) GAGAAAGAATGGATCCAAAAA 0.333000 18 66 0 0 1 0 0 GABRA4 2557 broad.mit.edu 37 4 46973157 46973157 + Missense_Mutation SNP G G A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr4:46973157G>A ENST00000264318.3 - 7 1799 c.817C>T c.(817-819)Ctt>Ttt p.L273F NM_000809.3|NM_001204266.1|NM_001204267.1 NP_000800.2|NP_001191195.1|NP_001191196.1 P48169 GBRA4_HUMAN gamma-aminobutyric acid (GABA) A receptor, alpha 4 273 gamma-aminobutyric acid signaling pathway cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 45 Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683) ACTTGAGAAAGAATCACTGTC 0.363000 13 44 0 0 1 0 0 C20orf26 26074 broad.mit.edu 37 20 20150033 20150033 + Silent SNP G G A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr20:20150033G>A ENST00000245957.5 + 13 1390 c.1314G>A c.(1312-1314)gtG>gtA p.V438V C20orf26_ENST00000451767.2_Silent_p.V438V|C20orf26_ENST00000389656.3_5'UTR|C20orf26_ENST00000377309.2_5'UTR|C20orf26_ENST00000377306.1_Silent_p.V438V NM_015585.3 NP_056400.3 Q8NHU2 CT026_HUMAN chromosome 20 open reading frame 26 438 NS(2)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(42)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 77 READ - Rectum adenocarcinoma(2;0.171) AGAACTTCGTGAAAATGGTCC 0.488000 26 73 0 0 1 0 0 SPRR2D 6703 broad.mit.edu 37 1 153012733 153012733 + Silent SNP C C T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr1:153012733C>T ENST00000368757.1 - 2 370 c.90G>A c.(88-90)ccG>ccA p.P30P SPRR2D_ENST00000360379.3_Silent_p.P30P|SPRR2D_ENST00000368758.3_Silent_p.P30P|SPRR2D_ENST00000368756.1_Silent_p.P30P P22532 SPR2D_HUMAN small proline-rich protein 2D 30 3 X 9 AA tandem repeats of P-K-C-P-[EQ]- P-C-P-[PS]. keratinization cornified envelope|cytoplasm endometrium(1)|skin(1) 2 Lung NSC(65;1.49e-28)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.171) CAGGGCACTTCGGGGGTGGAC 0.617000 37 128 0 0 1 0 0 MSH5-SAPCD1 100532732 broad.mit.edu 37 6 31730276 31730276 + Missense_Mutation SNP G G A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr6:31730276G>A ENST00000493662.2 + 25 2580 c.2524G>A c.(2524-2526)Gaa>Aaa p.E842K MSH5_ENST00000375755.3_Missense_Mutation_p.E825K|MSH5_ENST00000534153.4_Missense_Mutation_p.E842K|MSH5_ENST00000375703.3_Missense_Mutation_p.E826K|MSH5_ENST00000395853.1_Missense_Mutation_p.E499K|MSH5_ENST00000375750.3_Missense_Mutation_p.E825K|MSH5-SAPCD1_ENST00000491552.1_3'UTR|MSH5_ENST00000375742.3_Missense_Mutation_p.E842K|MSH5_ENST00000431848.2_Missense_Mutation_p.E524K|MSH5_ENST00000375740.3_Missense_Mutation_p.E813K CATGAGCCAGGAAGTGCTGCC 0.507000 15 50 0 0 1 0 0 BTN2A3P 54718 broad.mit.edu 37 6 26422353 26422353 + RNA SNP C C T rs141013110 TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr6:26422353C>T ENST00000466808.2 + 0 7 p.P3S(2) GCTCATGGAACCAGCTGCTGC 0.622000 4 32 0 0 1 0 0 DSG4 147409 broad.mit.edu 37 18 28966761 28966761 + Silent SNP G G C TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr18:28966761G>C ENST00000359747.4 + 3 224 c.195G>C c.(193-195)tcG>tcC p.S65S RP11-534N16.1_ENST00000578477.1_RNA|DSG4_ENST00000308128.4_Silent_p.S65S|RP11-534N16.1_ENST00000581856.1_RNA|RP11-534N16.1_ENST00000581452.1_RNA NM_001134453.1 NP_001127925.1 Q86SJ6 DSG4_HUMAN desmoglein 4 65 Cadherin 1. homophilic cell adhesion desmosome|integral to membrane calcium ion binding NS(1)|breast(1)|central_nervous_system(6)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(11)|liver(2)|lung(35)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1) 70 OV - Ovarian serous cystadenocarcinoma(10;0.00504) AGGACAACTCGAAGAGGAACC 0.448000 29 68 0 0 1 0 0 ZP2 7783 broad.mit.edu 37 16 21213314 21213314 + Missense_Mutation SNP C C T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr16:21213314C>T ENST00000574002.1 - 13 1800 c.1318G>A c.(1318-1320)Gaa>Aaa p.E440K ZP2_ENST00000574091.1_Missense_Mutation_p.E440K|ZP2_ENST00000219593.4_Missense_Mutation_p.E440K|AF001550.7_ENST00000572747.1_RNA Q05996 ZP2_HUMAN zona pellucida glycoprotein 2 (sperm receptor) 440 ZP. binding of sperm to zona pellucida|intracellular protein transport endoplasmic reticulum|Golgi apparatus|integral to membrane|multivesicular body|plasma membrane|proteinaceous extracellular matrix|stored secretory granule acrosin binding|coreceptor activity NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(16)|ovary(1)|prostate(1)|stomach(1) 41 GBM - Glioblastoma multiforme(48;0.0573) GCATGTATTTCGTTTTCATAG 0.393000 35 125 0 0 1 0 0 CEP135 9662 broad.mit.edu 37 4 56890672 56890672 + Missense_Mutation SNP G G A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr4:56890672G>A ENST00000257287.4 + 25 3450 c.3326G>A c.(3325-3327)cGa>cAa p.R1109Q NM_025009.4 NP_079285.2 Q66GS9 CP135_HUMAN centrosomal protein 135kDa 1109 centriole replication|centriole-centriole cohesion|G2/M transition of mitotic cell cycle centriole|cytosol protein C-terminus binding p.R1109L(1) breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(9)|lung(26)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 50 Glioma(25;0.08)|all_neural(26;0.101) AACAGAGAACGAGCAATCCAA 0.378000 57 199 0 0 1 0 0 OR1L3 26735 broad.mit.edu 37 9 125437562 125437562 + Missense_Mutation SNP G G A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr9:125437562G>A ENST00000304820.2 + 1 248 c.154G>A c.(154-156)Gat>Aat p.D52N NM_001005234.1 NP_001005234.1 Q8NH93 OR1L3_HUMAN olfactory receptor, family 1, subfamily L, member 3 52 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|kidney(1)|large_intestine(2)|lung(6)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1) 16 TATCCACTCTGATCCTCGACT 0.433000 39 152 0 0 1 0 0 TAT 6898 broad.mit.edu 37 16 71602114 71602114 + Missense_Mutation SNP C C T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr16:71602114C>T ENST00000355962.4 - 12 1431 c.1298G>A c.(1297-1299)cGg>cAg p.R433Q RP11-432I5.1_ENST00000561529.1_RNA NM_000353.2 NP_000344.1 P17735 ATTY_HUMAN tyrosine aminotransferase 433 2-oxoglutarate metabolic process|glutamate metabolic process|L-phenylalanine catabolic process|tyrosine catabolic process cytosol 1-aminocyclopropane-1-carboxylate synthase activity|L-tyrosine:2-oxoglutarate aminotransferase activity|pyridoxal phosphate binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(3) 29 Ovarian(137;0.125) Kidney(780;0.0157) L-Glutamic Acid(DB00142)|L-Phenylalanine(DB00120)|L-Tyrosine(DB00135)|Pyridoxal Phosphate(DB00114) CTCCTGGATCCGGCTGCACGC 0.517000 16 50 0 0 1 0 0 FAM171A1 221061 broad.mit.edu 37 10 15255812 15255812 + Missense_Mutation SNP C C T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr10:15255812C>T ENST00000378116.4 - 8 1781 c.1775G>A c.(1774-1776)gGg>gAg p.G592E NM_001010924.1 NP_001010924.1 Q5VUB5 F1711_HUMAN family with sequence similarity 171, member A1 592 G -> R (in Ref. 4; AAH34232). integral to membrane breast(6)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 52 GGAGTGGTCCCCGGGGAGTTT 0.547000 36 103 0 0 1 0 0 CLCN6 1185 broad.mit.edu 37 1 11887244 11887244 + Missense_Mutation SNP C C T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr1:11887244C>T ENST00000346436.6 + 10 858 c.806C>T c.(805-807)tCg>tTg p.S269L CLCN6_ENST00000376496.3_Missense_Mutation_p.S269L|CLCN6_ENST00000376487.3_Missense_Mutation_p.S247L|CLCN6_ENST00000312413.6_Missense_Mutation_p.S269L|CLCN6_ENST00000376492.3_3'UTR NM_001286.3 NP_001277.1 P51797 CLCN6_HUMAN chloride channel, voltage-sensitive 6 269 cell volume homeostasis|signal transduction endosome membrane|integral to membrane antiporter activity|ATP binding|voltage-gated chloride channel activity cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|prostate(2)|skin(4) 36 Ovarian(185;0.249) Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.13e-06)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.000816)|KIRC - Kidney renal clear cell carcinoma(229;0.00268)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649) GAGGAGGGTTCGTCCTTCTGG 0.552000 9 38 0 0 1 0 0 B3GNT4 79369 broad.mit.edu 37 12 122691281 122691281 + Silent SNP G G T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr12:122691281G>T ENST00000535274.1 + 1 2135 c.408G>T c.(406-408)gtG>gtT p.V136V B3GNT4_ENST00000546192.1_Silent_p.V136V|B3GNT4_ENST00000545141.1_Intron|B3GNT4_ENST00000324189.4_Silent_p.V161V Q9C0J1 B3GN4_HUMAN UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 4 161 protein glycosylation Golgi membrane|integral to membrane galactosyltransferase activity NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 13 all_neural(191;0.0837)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000297)|Epithelial(86;0.000497)|BRCA - Breast invasive adenocarcinoma(302;0.222) TCCTAGGGGTGGCAGGATCCG 0.637000 19 47 3.32936e-07 3.37129e-07 1 1 0 CLCN5 1184 broad.mit.edu 37 X 49851137 49851137 + Silent SNP C C T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chrX:49851137C>T ENST00000376088.3 + 11 1808 c.1167C>T c.(1165-1167)ctC>ctT p.L389L CLCN5_ENST00000307367.2_Silent_p.L319L|CLCN5_ENST00000376091.3_Silent_p.L389L|CLCN5_ENST00000376108.3_Silent_p.L319L NM_001127898.1|NM_001127899.1 NP_001121370.1|NP_001121371.1 P51795 CLCN5_HUMAN chloride channel, voltage-sensitive 5 319 excretion apical part of cell|endosome membrane|Golgi membrane|integral to plasma membrane antiporter activity|ATP binding p.L319L(1) central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(8)|ovary(2)|skin(1) 30 Ovarian(276;0.236) TCTTTGAGCTCGTGCCATTCA 0.512000 18 54 0 0 1 0 0 SLC15A1 6564 broad.mit.edu 37 13 99358483 99358483 + Missense_Mutation SNP C C T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr13:99358483C>T ENST00000376503.5 - 16 1229 c.1174G>A c.(1174-1176)Gga>Aga p.G392R NM_005073.3 NP_005064.1 P46059 S15A1_HUMAN solute carrier family 15 (oligopeptide transporter), member 1 392 digestion|protein transport integral to plasma membrane|membrane fraction peptide:hydrogen symporter activity breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 30 all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184) Cefadroxil(DB01140)|Ceftibuten(DB01415)|Cyclacillin(DB01000) ACTTCGTTTCCTTTGGGGAAG 0.393000 18 48 0 0 1 0 0 CATSPERD 257062 broad.mit.edu 37 19 5754252 5754252 + Missense_Mutation SNP C C T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr19:5754252C>T ENST00000381624.3 + 13 1335 c.1274C>T c.(1273-1275)cCt>cTt p.P425L CATSPERD_ENST00000381614.2_Missense_Mutation_p.P83L|CATSPERD_ENST00000309164.7_3'UTR NM_152784.3 NP_689997.3 Q86XM0 TM146_HUMAN catsper channel auxiliary subunit delta 425 integral to membrane p.P425H(1) TCCCTGATTCCTCTGGTAAGT 0.493000 26 86 0 0 1 0 0 OR52E4 390081 broad.mit.edu 37 11 5905798 5905798 + Silent SNP A A G TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr11:5905798A>G ENST00000316987.2 + 1 298 c.276A>G c.(274-276)caA>caG p.Q92Q NM_001005165.1 NP_001005165.1 Q8NGH9 O52E4_HUMAN olfactory receptor, family 52, subfamily E, member 4 92 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(7)|liver(2)|lung(13)|ovary(2)|prostate(1)|skin(2) 30 Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114) Epithelial(150;1.24e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135) TCAACCTCCAAGAGATCAGCT 0.463000 26 104 0 0 1 0 0 PPP6R2 9701 broad.mit.edu 37 22 50869716 50869716 + Missense_Mutation SNP G G A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr22:50869716G>A ENST00000359139.3 + 11 1634 c.1240G>A c.(1240-1242)Gag>Aag p.E414K PPP6R2_ENST00000216061.5_Missense_Mutation_p.E414K|PPP6R2_ENST00000395741.3_Missense_Mutation_p.E415K|PPP6R2_ENST00000395744.3_Missense_Mutation_p.E414K NM_001242898.1|NM_001242899.1|NM_001242900.1|NM_014678.4 NP_001229827.1|NP_001229828.1|NP_001229829.1|NP_055493.2 O75170 PP6R2_HUMAN protein phosphatase 6, regulatory subunit 2 414 cytoplasm|intracellular membrane-bounded organelle protein binding NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(6)|ovary(2)|skin(1)|urinary_tract(1) 22 CAGCGGATCCGAGAGCAGGGT 0.597000 21 69 0 0 1 0 0 PPME1 51400 broad.mit.edu 37 11 73941314 73941314 + Silent SNP C C T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr11:73941314C>T ENST00000328257.8 + 6 746 c.423C>T c.(421-423)gcC>gcT p.A141A PPME1_ENST00000398427.4_Silent_p.A141A Q9Y570 PPME1_HUMAN protein phosphatase methylesterase 1 141 protein demethylation carboxylesterase activity|protein C-terminal methylesterase activity|protein phosphatase 2A binding|protein phosphatase inhibitor activity|protein phosphatase type 2A regulator activity endometrium(1)|large_intestine(2)|lung(2) 5 Breast(11;3.29e-05) TGGTTGAAGCCATGTATGGGG 0.448000 29 121 0 0 1 0 0 NTRK3 4916 broad.mit.edu 37 15 88472554 88472554 + Missense_Mutation SNP C C T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr15:88472554C>T ENST00000394480.1 - 17 2322 c.2001G>A c.(1999-2001)atG>atA p.M667I NTRK3_ENST00000542733.2_Missense_Mutation_p.M569I|NTRK3_ENST00000360948.2_Missense_Mutation_p.M667I|NTRK3_ENST00000557856.1_Missense_Mutation_p.M659I|NTRK3_ENST00000355254.2_Missense_Mutation_p.M667I|NTRK3_ENST00000357724.2_Missense_Mutation_p.M659I|NTRK3_ENST00000558676.1_Missense_Mutation_p.M659I NM_001243101.1|NM_002530.3 NP_001230030.1|NP_002521.2 Q16288 NTRK3_HUMAN neurotrophic tyrosine kinase, receptor, type 3 667 Protein kinase. transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|transmembrane receptor protein tyrosine kinase activity ETV6/NTRK3(238) breast(3)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(22)|lung(63)|ovary(6)|pancreas(3)|prostate(1)|skin(4)|stomach(5)|upper_aerodigestive_tract(2) 119 BRCA - Breast invasive adenocarcinoma(143;0.211) CCAGGTACACCATACCCGAGG 0.582000 T ETV6 """congenital fibrosarcoma, Secretory breast """ TSP Lung(13;0.10) 12 48 0 0 1 0 0 TPTE2 93492 broad.mit.edu 37 13 20006621 20006621 + Missense_Mutation SNP G G A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr13:20006621G>A ENST00000400230.2 - 16 1258 c.1214C>T c.(1213-1215)tCg>tTg p.S405L TPTE2_ENST00000400103.2_Missense_Mutation_p.S294L|TPTE2_ENST00000382978.1_Missense_Mutation_p.S365L|TPTE2_ENST00000382977.4_Missense_Mutation_p.S405L|TPTE2_ENST00000255310.6_Missense_Mutation_p.S328L|TPTE2_ENST00000382975.4_Missense_Mutation_p.S365L|TPTE2_ENST00000390680.2_Missense_Mutation_p.S328L|TPTE2_ENST00000457266.2_Missense_Mutation_p.S294L Q6XPS3 TPTE2_HUMAN transmembrane phosphoinositide 3-phosphatase and tensin homolog 2 405 C2 tensin-type. endoplasmic reticulum membrane|integral to membrane ion channel activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity NS(2)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(8)|lung(21)|pancreas(1)|prostate(8)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 65 all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162) all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089) ACCACGAATCGAATAAATAAT 0.388000 5 31 0 0 1 0 0 PIK3CA 5290 broad.mit.edu 37 3 178936091 178936091 + Missense_Mutation SNP G G A rs104886003 TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr3:178936091G>A ENST00000263967.3 + 10 1790 c.1633G>A c.(1633-1635)Gag>Aag p.E545K NM_006218.2 NP_006209.2 P42336 PK3CA_HUMAN phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha 545 PI3K helical. E -> A (in cancer).|E -> G (in KERSEB).|E -> K (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells). epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity p.E545K(881)|p.E545Q(18) NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208) 5269 all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155) OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282) TGAAATCACTGAGCAGGAGAA 0.353000 E545K(BC3C_URINARY_TRACT)|E545K(BFTC909_KIDNEY)|E545K(DLD1_LARGE_INTESTINE)|E545K(ESS1_ENDOMETRIUM)|E545K(HCC202_BREAST)|E545K(HCT15_LARGE_INTESTINE)|E545K(HSC4_UPPER_AERODIGESTIVE_TRACT)|E545K(HT1197_URINARY_TRACT)|E545K(HUH28_BILIARY_TRACT)|E545K(KYSE510_OESOPHAGUS)|E545K(L363_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|E545K(MCF7_BREAST)|E545K(MDAMB361_BREAST)|E545K(MKN1_STOMACH)|E545K(NCIH460_LUNG)|E545K(NCIH508_LARGE_INTESTINE)|E545K(NCIH596_LUNG)|E545K(RERFLCSQ1_LUNG)|E545K(TCCSUP_URINARY_TRACT)|E545K(TE5_OESOPHAGUS) 57 Mis """colorectal, gastric, gliobastoma, breast""" HNSCC(19;0.045)|TSP Lung(28;0.18) 16 51 0 0 1 0 0 C10orf129 142827 broad.mit.edu 37 10 96971721 96971721 + Missense_Mutation SNP G G A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr10:96971721G>A ENST00000341686.3 + 6 967 c.842G>A c.(841-843)gGa>gAa p.G281E C10orf129_ENST00000394005.3_Missense_Mutation_p.G281E|C10orf129_ENST00000430183.1_Missense_Mutation_p.G126E NM_207321.2 NP_997204.2 Q6P461 ACSM6_HUMAN chromosome 10 open reading frame 129 281 fatty acid metabolic process mitochondrion ATP binding|butyrate-CoA ligase activity|GTP binding|metal ion binding breast(1)|kidney(2)|lung(1)|pancreas(1)|prostate(1)|skin(1) 7 Colorectal(252;0.083) Epithelial(162;1.64e-06)|all cancers(201;3.71e-05) GCTGTCTTGGGAACTTGGTTC 0.483000 18 60 0 0 1 0 0 FAT3 120114 broad.mit.edu 37 11 92086801 92086801 + Missense_Mutation SNP C C T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr11:92086801C>T ENST00000298047.6 + 1 1540 c.1523C>T c.(1522-1524)aCc>aTc p.T508I FAT3_ENST00000409404.2_Missense_Mutation_p.T508I|FAT3_ENST00000541502.1_Missense_Mutation_p.T508I|FAT3_ENST00000525166.1_Missense_Mutation_p.T358I Q8TDW7 FAT3_HUMAN FAT atypical cadherin 3 508 Cadherin 5. homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5) 85 Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858) GGGTACATCACCTATAGTATC 0.398000 TCGA Ovarian(4;0.039) 26 96 0 0 1 0 0 CDC42BPB 9578 broad.mit.edu 37 14 103412809 103412809 + Silent SNP G G A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr14:103412809G>A ENST00000361246.2 - 28 4032 c.3744C>T c.(3742-3744)atC>atT p.I1248I NM_006035.3 NP_006026.3 Q9Y5S2 MRCKB_HUMAN CDC42 binding protein kinase beta (DMPK-like) 1248 CNH. actin cytoskeleton reorganization|establishment or maintenance of cell polarity|intracellular signal transduction cell leading edge|cell-cell junction|cytoplasm|cytoskeleton ATP binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(11)|liver(1)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1) 49 Melanoma(154;0.155) Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(2;0.0419)|Epithelial(152;0.0474)|all cancers(159;0.199) ACGTACCCACGATGGCAGCTG 0.547000 9 53 0 0 1 0 0 SNHG7 84973 broad.mit.edu 37 9 139620491 139620491 + RNA SNP G G A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr9:139620491G>A ENST00000414282.1 - 0 451 SNHG7_ENST00000436596.1_RNA|SNHG7_ENST00000447221.1_RNA|SNHG7_ENST00000416970.1_RNA CTCCCTCATGGAGCAAACCAG 0.498000 9 49 0 0 1 0 0 PAX4 5078 broad.mit.edu 37 7 127254563 127254563 + Silent SNP G G A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr7:127254563G>A ENST00000341640.2 - 3 590 c.385C>T c.(385-387)Cta>Tta p.L129L PAX4_ENST00000338516.3_Silent_p.L137L|PAX4_ENST00000463946.1_Silent_p.L127L|PAX4_ENST00000378740.2_Silent_p.L129L NM_006193.2 NP_006184.2 O43316 PAX4_HUMAN paired box 4 137 Paired. R -> W (in diabetes mellitus type 2). cell differentiation|endocrine pancreas development|organ morphogenesis nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity cervix(1)|kidney(2)|large_intestine(6)|lung(20)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 35 GTGCACGGTAGTCCCTGGTCC 0.547000 3 8 0 0 1 0 0 DSCAM 1826 broad.mit.edu 37 21 41668001 41668001 + Silent SNP G G A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr21:41668001G>A ENST00000400454.1 - 10 2640 c.2163C>T c.(2161-2163)atC>atT p.I721I NM_001389.3 NP_001380.2 O60469 DSCAM_HUMAN Down syndrome cell adhesion molecule 721 Ig-like C2-type 8. cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction protein binding NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4) 142 all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103) ATTTCCACACGATGGTAGGTA 0.428000 12 59 0 0 1 0 0 CHDC2 286464 broad.mit.edu 37 X 36162748 36162748 + Missense_Mutation SNP C C T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chrX:36162748C>T ENST00000378660.1 + 11 1519 c.1331C>T c.(1330-1332)tCa>tTa p.S444L CHDC2_ENST00000313548.4_Missense_Mutation_p.S444L calponin homology domain containing 2 gatatgccctcagtgtgggtt 0.468000 19 35 0 0 1 0 0 ASPG 374569 broad.mit.edu 37 14 104570792 104570792 + Missense_Mutation SNP G G A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr14:104570792G>A ENST00000551177.1 + 8 997 c.905G>A c.(904-906)gGg>gAg p.G302E ASPG_ENST00000455920.2_Missense_Mutation_p.G302E|ASPG_ENST00000546892.2_Missense_Mutation_p.G302E NM_001080464.2 NP_001073933.2 Q86U10 LPP60_HUMAN asparaginase homolog (S. cerevisiae) 302 Asparaginase. lipid catabolic process 1-alkyl-2-acetylglycerophosphocholine esterase activity|asparaginase activity|lysophospholipase activity endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)|skin(1)|urinary_tract(1) 11 TGCCTCCAGGGGGCTGTGACC 0.667000 7 29 0 0 1 0 0 OLR1 4973 broad.mit.edu 37 12 10312595 10312595 + Nonsense_Mutation SNP G G A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr12:10312595G>A ENST00000309539.3 - 6 766 c.706C>T c.(706-708)Cag>Tag p.Q236* OLR1_ENST00000432556.2_3'UTR|OLR1_ENST00000545927.1_3'UTR|OLR1_ENST00000544577.1_Intron|OLR1_ENST00000543993.1_3'UTR NM_002543.3 NP_002534.1 P78380 OLR1_HUMAN oxidized low density lipoprotein (lectin-like) receptor 1 236 C-type lectin. blood circulation|blood coagulation|inflammatory response|leukocyte migration|proteolysis extracellular region|integral to plasma membrane|membrane fraction sugar binding breast(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|skin(1) 10 GGGTATGTCTGGGAGACAGCG 0.418000 30 120 0 0 1 0 0 ZNF831 128611 broad.mit.edu 37 20 57767386 57767386 + Missense_Mutation SNP G G A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr20:57767386G>A ENST00000371030.2 + 1 1312 c.1312G>A c.(1312-1314)Ggc>Agc p.G438S NM_178457.1 NP_848552.1 Q5JPB2 ZN831_HUMAN zinc finger protein 831 438 intracellular nucleic acid binding|zinc ion binding NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3) 125 all_lung(29;0.0085) GTCCAAACAGGGCAGCATCGA 0.682000 10 26 0 0 1 0 0 TRANK1 9881 broad.mit.edu 37 3 36897918 36897918 + Missense_Mutation SNP C C T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr3:36897918C>T ENST00000301807.6 - 12 3410 c.1513G>A c.(1513-1515)Gaa>Aaa p.E505K TRANK1_ENST00000428977.2_Missense_Mutation_p.E505K|TRANK1_ENST00000429976.2_Missense_Mutation_p.E1055K NM_014831.2 NP_055646.2 O15050 TRNK1_HUMAN tetratricopeptide repeat and ankyrin repeat containing 1 1055 DNA repair ATP binding|ATP-dependent DNA helicase activity|DNA binding NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2) 73 TCAGCTTTTTCCCAGTAAACG 0.537000 8 29 0 0 1 0 0 CCNB3 85417 broad.mit.edu 37 X 50089728 50089728 + Missense_Mutation SNP G G A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chrX:50089728G>A ENST00000376042.1 + 10 4030 c.3732G>A c.(3730-3732)atG>atA p.M1244I CCNB3_ENST00000376038.1_Missense_Mutation_p.M140I|CCNB3_ENST00000276014.7_Missense_Mutation_p.M1244I|CCNB3_ENST00000348603.2_Missense_Mutation_p.M140I Q8WWL7 CCNB3_HUMAN cyclin B3 1244 cell division|meiosis|regulation of cyclin-dependent protein kinase activity|regulation of G2/M transition of mitotic cell cycle nucleus protein kinase binding breast(3)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 75 Ovarian(276;0.236) TACTCAGCATGGAAATCAACA 0.458000 15 78 0 0 1 0 0 ANKRD12 23253 broad.mit.edu 37 18 9258271 9258271 + Missense_Mutation SNP C C T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr18:9258271C>T ENST00000383440.2 + 8 5194 c.4937C>T c.(4936-4938)cCa>cTa p.P1646L ANKRD12_ENST00000400020.3_Missense_Mutation_p.P1646L|ANKRD12_ENST00000262126.3_Missense_Mutation_p.P1669L NM_001083625.2 NP_001077094.1 Q6UB98 ANR12_HUMAN ankyrin repeat domain 12 1669 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 GAACAAGATCCAAAACATTGT 0.363000 14 35 0 0 1 0 0 BEST2 54831 broad.mit.edu 37 19 12866708 12866708 + Missense_Mutation SNP G G A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr19:12866708G>A ENST00000549706.1 + 8 1231 c.907G>A c.(907-909)Gat>Aat p.D303N BEST2_ENST00000042931.1_Missense_Mutation_p.D303N|BEST2_ENST00000553030.1_Missense_Mutation_p.D303N Q8NFU1 BEST2_HUMAN bestrophin 2 303 membrane depolarization|sensory perception of smell chloride channel complex|cilium|plasma membrane chloride channel activity breast(3)|endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|pancreas(1) 12 AGAGGACGATGATGACTTTGA 0.557000 26 65 0 0 1 0 0 LEPREL1 55214 broad.mit.edu 37 3 189705417 189705417 + Missense_Mutation SNP G G A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr3:189705417G>A ENST00000319332.5 - 5 1194 c.997C>T c.(997-999)Ctt>Ttt p.L333F LEPREL1_ENST00000427335.2_Missense_Mutation_p.L152F NM_018192.3 NP_060662.2 Q8IVL5 P3H2_HUMAN leprecan-like 1 333 collagen metabolic process|negative regulation of cell proliferation|peptidyl-proline hydroxylation basement membrane|endoplasmic reticulum|Golgi apparatus iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 3-dioxygenase activity NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|prostate(2)|skin(5) 41 all_cancers(143;4.01e-10)|Ovarian(172;0.0925) Lung(62;4.35e-05) GBM - Glioblastoma multiforme(93;0.02) L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126) TGGCATAGAAGATAGGCTTTG 0.463000 19 77 0 0 1 0 0 GABRA5 2558 broad.mit.edu 37 15 27128374 27128374 + Silent SNP G G A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr15:27128374G>A ENST00000335625.5 + 5 1158 c.270G>A c.(268-270)acG>acA p.T90T GABRB3_ENST00000541819.2_Intron|GABRA5_ENST00000355395.5_Silent_p.T90T|GABRA5_ENST00000557449.1_Intron|GABRA5_ENST00000400081.3_Silent_p.T90T NM_000810.3 NP_000801.1 P31644 GBRA5_HUMAN gamma-aminobutyric acid (GABA) A receptor, alpha 5 90 gamma-aminobutyric acid signaling pathway|synaptic transmission cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(1)|upper_aerodigestive_tract(1) 49 all_lung(180;4.59e-13)|Breast(32;0.000563)|Colorectal(260;0.227) all cancers(64;1.45e-08)|Epithelial(43;4.96e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0232)|Lung(196;0.182) Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683) TGTCCGACACGGAAATGGTAG 0.652000 14 41 0 0 1 0 0 ACAN 176 broad.mit.edu 37 15 89392937 89392937 + Silent SNP C C T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr15:89392937C>T ENST00000439576.2 + 10 2375 c.2001C>T c.(1999-2001)tcC>tcT p.S667S ACAN_ENST00000352105.7_Silent_p.S667S|ACAN_ENST00000561243.1_Silent_p.S667S|ACAN_ENST00000559004.1_Silent_p.S667S|ACAN_ENST00000558207.1_Silent_p.S667S NM_013227.3 NP_037359.3 E7EX88 E7EX88_HUMAN aggrecan 667 cell adhesion hyaluronic acid binding|sugar binding NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2) 93 Lung NSC(78;0.0392)|all_lung(78;0.077) BRCA - Breast invasive adenocarcinoma(143;0.146) ACCCACTGTCCCGGCACCATG 0.632000 4 17 0 0 1 0 0 COLEC12 81035 broad.mit.edu 37 18 334970 334970 + Missense_Mutation SNP C C T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr18:334970C>T ENST00000400256.3 - 6 1795 c.1588G>A c.(1588-1590)Ggc>Agc p.G530S NM_130386.2 NP_569057.1 Q5KU26 COL12_HUMAN collectin sub-family member 12 530 Collagen-like 3. carbohydrate mediated signaling|innate immune response|phagocytosis, recognition|protein homooligomerization collagen|integral to membrane galactose binding|low-density lipoprotein particle binding|metal ion binding|pattern recognition receptor activity|scavenger receptor activity cervix(2)|endometrium(3)|kidney(2)|large_intestine(10)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 46 all_cancers(4;0.0442)|Myeloproliferative disorder(11;0.0426) CCTGGTGGGCCCGGGGGGCCT 0.716000 3 18 0 0 1 0 0 ZSCAN4 201516 broad.mit.edu 37 19 58189851 58189851 + Missense_Mutation SNP G G A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr19:58189851G>A ENST00000318203.5 + 5 1577 c.880G>A c.(880-882)Gga>Aga p.G294R NM_152677.2 NP_689890.1 Q8NAM6 ZSCA4_HUMAN zinc finger and SCAN domain containing 4 294 telomere maintenance via telomere lengthening|viral reproduction nuclear chromosome, telomeric region DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding endometrium(3)|large_intestine(5)|liver(2)|lung(17)|ovary(1)|skin(1)|stomach(1) 30 Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026) GAGCAATGAGGGAAATTCCAC 0.473000 23 82 0 0 1 0 0 LPHN3 23284 broad.mit.edu 37 4 62598778 62598778 + Missense_Mutation SNP G G A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr4:62598778G>A ENST00000512091.1 + 7 1448 c.701G>A c.(700-702)cGg>cAg p.R234Q LPHN3_ENST00000506700.1_Missense_Mutation_p.R234Q|LPHN3_ENST00000514591.1_Missense_Mutation_p.R234Q|LPHN3_ENST00000514996.1_Missense_Mutation_p.R234Q|LPHN3_ENST00000514157.1_Missense_Mutation_p.R234Q|LPHN3_ENST00000545650.1_Missense_Mutation_p.R234Q|LPHN3_ENST00000506720.1_Missense_Mutation_p.R302Q|LPHN3_ENST00000511324.1_Missense_Mutation_p.R302Q|LPHN3_ENST00000507625.1_Missense_Mutation_p.R302Q|LPHN3_ENST00000504896.1_Missense_Mutation_p.R234Q|LPHN3_ENST00000509896.1_Missense_Mutation_p.R302Q|LPHN3_ENST00000508946.1_Missense_Mutation_p.R234Q|LPHN3_ENST00000507164.1_Missense_Mutation_p.R302Q|LPHN3_ENST00000508693.1_Missense_Mutation_p.R302Q|LPHN3_ENST00000506746.1_Missense_Mutation_p.R302Q Q9HAR2 LPHN3_HUMAN latrophilin 3 234 Olfactomedin-like. neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity|sugar binding breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1) 125 TTTGATTTGCGGACTAGGATA 0.463000 7 33 0 0 1 0 0 SCN3A 6328 broad.mit.edu 37 2 166019296 166019296 + Missense_Mutation SNP T T G TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr2:166019296T>G ENST00000360093.3 - 8 1228 c.737A>C c.(736-738)aAg>aCg p.K246T SCN3A_ENST00000409101.3_Missense_Mutation_p.K246T|SCN3A_ENST00000283254.7_Missense_Mutation_p.K246T NM_001081677.1 NP_001075146.1 Q9NY46 SCN3A_HUMAN sodium channel, voltage-gated, type III, alpha subunit 246 voltage-gated sodium channel complex voltage-gated sodium channel activity NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3) 120 Lamotrigine(DB00555) ATCAGAAAGCTTCTTTACCGA 0.458000 20 146 0 0 1 0 0 ELAC2 60528 broad.mit.edu 37 17 12896253 12896253 + Missense_Mutation SNP C C T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr17:12896253C>T ENST00000338034.4 - 24 2602 c.2363G>A c.(2362-2364)cGg>cAg p.R788Q ELAC2_ENST00000426905.3_Missense_Mutation_p.R748Q|ELAC2_ENST00000395962.2_Missense_Mutation_p.R769Q NM_018127.6|NM_173717.1 NP_060597.4|NP_776065.1 Q9BQ52 RNZ2_HUMAN elaC ribonuclease Z 2 788 tRNA processing nucleus endonuclease activity|metal ion binding|protein binding breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|skin(1) 23 CCGCACCTGCCGCAGCTCCCG 0.657000 24 76 0 0 1 0 0 KIAA1841 84542 broad.mit.edu 37 2 61300669 61300669 + Missense_Mutation SNP G G C TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr2:61300669G>C ENST00000402291.1 + 5 655 c.414G>C c.(412-414)atG>atC p.M138I KIAA1841_ENST00000453873.1_Missense_Mutation_p.M138I|KIAA1841_ENST00000482513.1_3'UTR|KIAA1841_ENST00000356719.2_Missense_Mutation_p.M138I|KIAA1841_ENST00000295031.5_Missense_Mutation_p.M138I NM_001129993.1 NP_001123465.1 Q6NSI8 K1841_HUMAN KIAA1841 138 breast(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1) 25 Epithelial(17;0.193) GTGGAGAAATGACTGAAGAAT 0.328000 7 41 0 0 1 0 0 ABCC3 8714 broad.mit.edu 37 17 48755183 48755183 + Missense_Mutation SNP G G A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr17:48755183G>A ENST00000285238.8 + 24 3537 c.3457G>A c.(3457-3459)Gag>Aag p.E1153K NM_003786.3 NP_003777.2 O15438 MRP3_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 3 1153 ABC transmembrane type-1 2. bile acid metabolic process integral to plasma membrane|membrane fraction ATP binding|bile acid-exporting ATPase activity|organic anion transmembrane transporter activity breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 33 BRCA - Breast invasive adenocarcinoma(22;3.05e-09) Glibenclamide(DB01016) CCACTTTTCGGAGACAGTGAC 0.537000 57 186 0 0 1 0 0 KIF3C 3797 broad.mit.edu 37 2 26152835 26152835 + Missense_Mutation SNP G G A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr2:26152835G>A ENST00000264712.3 - 6 2683 c.2104C>T c.(2104-2106)Ccc>Tcc p.P702S KIF3C_ENST00000496378.1_5'UTR|KIF3C_ENST00000405914.1_Missense_Mutation_p.P702S NM_002254.6 NP_002245.4 O14782 KIF3C_HUMAN kinesin family member 3C 702 Globular (Potential). blood coagulation|microtubule-based movement cytosol|kinesin complex|microtubule ATP binding|microtubule motor activity breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(8)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) CTGTACCTGGGGTGGGACCCC 0.607000 36 87 0 0 1 0 0 CA10 56934 broad.mit.edu 37 17 49825013 49825013 + Missense_Mutation SNP C C T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr17:49825013C>T ENST00000451037.2 - 4 1385 c.445G>A c.(445-447)Gga>Aga p.G149R CA10_ENST00000571918.1_5'UTR|CA10_ENST00000442502.2_Missense_Mutation_p.G149R|CA10_ENST00000570565.1_Missense_Mutation_p.G74R|CA10_ENST00000285273.4_Missense_Mutation_p.G149R|CA10_ENST00000340813.6_Missense_Mutation_p.G155R NM_020178.4 NP_064563.1 Q9NS85 CAH10_HUMAN carbonic anhydrase X 149 brain development cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|skin(3)|stomach(2)|urinary_tract(1) 41 BRCA - Breast invasive adenocarcinoma(22;4.74e-06) AAGGCCTGTCCATTGAGGAGG 0.502000 33 138 0 0 1 0 0 KCNK10 54207 broad.mit.edu 37 14 88652371 88652371 + Missense_Mutation SNP C C T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr14:88652371C>T ENST00000340700.5 - 7 1576 c.1125G>A c.(1123-1125)atG>atA p.M375I KCNK10_ENST00000319231.5_Missense_Mutation_p.M380I|KCNK10_ENST00000312350.5_Missense_Mutation_p.M380I NM_021161.4 NP_066984.1 P57789 KCNKA_HUMAN potassium channel, subfamily K, member 10 375 signal transduction integral to membrane potassium channel activity|voltage-gated ion channel activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1) 47 GCCGGCGCTCCATGCTGCGGA 0.667000 7 31 0 0 1 0 0 IPO5 3843 broad.mit.edu 37 13 98655019 98655019 + Missense_Mutation SNP C C T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr13:98655019C>T ENST00000261574.5 + 15 1549 c.1369C>T c.(1369-1371)Cat>Tat p.H457Y IPO5_ENST00000539640.1_Missense_Mutation_p.H314Y|IPO5_ENST00000490680.1_Missense_Mutation_p.H439Y NM_002271.4 NP_002262.3 O00410 IPO5_HUMAN importin 5 439 interspecies interaction between organisms|NLS-bearing substrate import into nucleus|ribosomal protein import into nucleus cytoplasm|nuclear pore|nucleolus GTPase inhibitor activity|protein transporter activity|Ran GTPase binding breast(2)|endometrium(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 27 AAAGAAATTTCATGAGAAGGT 0.418000 23 66 0 0 1 0 0 SLC6A7 6534 broad.mit.edu 37 5 149576695 149576695 + Missense_Mutation SNP C C T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr5:149576695C>T ENST00000230671.2 + 4 811 c.440C>T c.(439-441)tCc>tTc p.S147F SLC6A7_ENST00000524041.1_Missense_Mutation_p.S147F NM_014228.3 NP_055043.2 Q99884 SC6A7_HUMAN solute carrier family 6 (neurotransmitter transporter), member 7 147 integral to plasma membrane|membrane fraction neurotransmitter:sodium symporter activity|proline:sodium symporter activity NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(4)|skin(1)|stomach(1) 16 all_hematologic(541;0.224) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) L-Proline(DB00172) CTCTTCGCCTCCCTCACCAGC 0.622000 13 55 0 0 1 0 0 RPL6 6128 broad.mit.edu 37 12 112846061 112846061 + Missense_Mutation SNP C C T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr12:112846061C>T ENST00000424576.2 - 3 504 c.319G>A c.(319-321)Gtt>Att p.V107I RPL6_ENST00000202773.9_Missense_Mutation_p.V107I NM_001024662.1 NP_001019833.1 Q02878 RL6_HUMAN ribosomal protein L6 107 endocrine pancreas development|regulation of transcription, DNA-dependent|translational elongation|translational termination|viral transcription cytosolic large ribosomal subunit DNA binding|RNA binding|structural constituent of ribosome cervix(1)|large_intestine(6)|lung(3) 10 CGAAGTTTAACCACCCGGGTA 0.398000 14 69 0 0 1 0 0 CCNE1 898 broad.mit.edu 37 19 30313009 30313009 + Missense_Mutation SNP C C T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr19:30313009C>T ENST00000262643.3 + 9 1091 c.812C>T c.(811-813)cCc>cTc p.P271L CCNE1_ENST00000357943.5_Missense_Mutation_p.P228L|CCNE1_ENST00000444983.2_Missense_Mutation_p.P256L NM_001238.2 NP_001229.1 P24864 CCNE1_HUMAN cyclin E1 271 androgen receptor signaling pathway|cell division|positive regulation of transcription, DNA-dependent|regulation of cyclin-dependent protein kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle cytosol|nucleoplasm androgen receptor binding|protein kinase binding|transcription coactivator activity endometrium(1)|kidney(2)|large_intestine(4)|lung(12)|skin(1) 20 all_cancers(1;2.19e-31)|all_epithelial(1;1.49e-30)|all_lung(1;1.37e-11)|Lung NSC(1;2.35e-11)|Ovarian(5;0.000902)|Breast(6;0.0203)|Esophageal squamous(110;0.195) UCEC - Uterine corpus endometrioid carcinoma (4;2.65e-06)|Epithelial(1;6.85e-98)|all cancers(1;1.38e-94)|OV - Ovarian serous cystadenocarcinoma(1;1.38e-90)|STAD - Stomach adenocarcinoma(5;5.8e-07)|GBM - Glioblastoma multiforme(4;0.0394)|Lung(7;0.092)|LUAD - Lung adenocarcinoma(5;0.115)|BRCA - Breast invasive adenocarcinoma(6;0.183)|COAD - Colon adenocarcinoma(1;0.188)|Colorectal(1;0.202) CCGCAGTATCCCCAGCAAATC 0.488000 A serous ovarian 33 85 0 0 1 0 0 BTNL3 10917 broad.mit.edu 37 5 180420145 180420145 + Missense_Mutation SNP G G A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr5:180420145G>A ENST00000342868.6 + 2 566 c.382G>A c.(382-384)Gag>Aag p.E128K NM_197975.2 NP_932079.1 Q6UXE8 BTNL3_HUMAN butyrophilin-like 3 128 lipid metabolic process integral to membrane NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(1)|lung(10)|prostate(2)|skin(1) 25 all_cancers(89;3.37e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114) all_cancers(40;0.00336)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)|all_lung(500;0.248) Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000272) GGCCACCTGGGAGCTGCGGGT 0.458000 3 9 0 0 1 0 0 KAZALD1 81621 broad.mit.edu 37 10 102822604 102822604 + Silent SNP C C T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr10:102822604C>T ENST00000370200.5 + 2 581 c.255C>T c.(253-255)ctC>ctT p.L85L NM_030929.4 NP_112191.2 Q96I82 KAZD1_HUMAN Kazal-type serine peptidase inhibitor domain 1 85 IGFBP N-terminal. cell differentiation|multicellular organismal development|ossification|regulation of cell growth insulin-like growth factor binding endometrium(1)|ovary(1)|prostate(2) 4 Epithelial(162;6.21e-09)|all cancers(201;3.14e-07) GCGCCAACCTCGAGGGCCAGC 0.736000 8 23 0 0 1 0 0 IP6K2 51447 broad.mit.edu 37 3 48730484 48730484 + Silent SNP G G A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr3:48730484G>A ENST00000328631.5 - 3 554 c.331C>T c.(331-333)Cta>Tta p.L111L NM_001005909.2|NM_016291.3 NP_001005909.1|NP_057375.2 Q9UHH9 IP6K2_HUMAN inositol hexakisphosphate kinase 2 111 negative regulation of cell growth|phosphatidylinositol phosphorylation|positive regulation of apoptosis|type I interferon-mediated signaling pathway intermediate filament cytoskeleton|nucleus ATP binding|inositol hexakisphosphate 5-kinase activity|inositol trisphosphate 3-kinase activity biliary_tract(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(1) 15 GTCCACCTTAGGAGCTTACTT 0.413000 60 199 0 0 1 0 0 FAM83G 644815 broad.mit.edu 37 17 18874996 18874996 + Silent SNP T T A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr17:18874996T>A ENST00000388995.6 - 6 2371 c.2148A>T c.(2146-2148)ggA>ggT p.G716G FAM83G_ENST00000345041.4_Silent_p.G716G|SLC5A10_ENST00000395645.3_Intron|SLC5A10_ENST00000395642.1_Intron|SLC5A10_ENST00000395643.2_Intron|SLC5A10_ENST00000317977.6_Intron|SLC5A10_ENST00000395647.2_Intron|SLC5A10_ENST00000417251.2_Intron|FAM83G_ENST00000585154.2_Silent_p.G716G A6ND36 FA83G_HUMAN family with sequence similarity 83, member G 716 central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(7)|ovary(2)|prostate(3)|stomach(1) 22 ACCTAGGGGGTCCTGGGAAGC 0.622000 16 44 0 0 1 0 0 DGAT2 84649 broad.mit.edu 37 11 75508220 75508220 + Missense_Mutation SNP C C T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr11:75508220C>T ENST00000228027.7 + 6 912 c.652C>T c.(652-654)Cgg>Tgg p.R218W DGAT2_ENST00000376262.3_Missense_Mutation_p.R175W NM_032564.4 NP_115953.2 Q96PD7 DGAT2_HUMAN diacylglycerol O-acyltransferase 2 218 glycerol metabolic process|triglyceride biosynthetic process endoplasmic reticulum membrane|integral to membrane diacylglycerol O-acyltransferase activity endometrium(3)|large_intestine(5)|lung(5)|prostate(2)|skin(2) 17 Ovarian(111;0.103) CCCTGTCAGCCGGGACACCAT 0.552000 31 127 0 0 1 0 0 ANK2 287 broad.mit.edu 37 4 114286226 114286226 + Silent SNP C C T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr4:114286226C>T ENST00000357077.4 + 41 10973 c.10920C>T c.(10918-10920)atC>atT p.I3640I ANK2_ENST00000509550.1_Silent_p.I731I|ANK2_ENST00000264366.6_Silent_p.I3607I|ANK2_ENST00000394537.3_Silent_p.I1555I|ANK2_ENST00000510275.2_Silent_p.I207I|ANK2_ENST00000506722.1_Silent_p.I1546I NM_001148.4 NP_001139.3 Q01484 ANK2_HUMAN ankyrin 2, neuronal 3607 axon guidance|signal transduction apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere protein binding NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10) 248 Ovarian(17;0.0448)|Hepatocellular(203;0.218) OV - Ovarian serous cystadenocarcinoma(123;4.92e-05) TCACCAAGATCAACCGAATGG 0.408000 32 130 0 0 1 0 0 STOML3 161003 broad.mit.edu 37 13 39544522 39544522 + Missense_Mutation SNP G G A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr13:39544522G>A ENST00000379631.4 - 5 660 c.316C>T c.(316-318)Ctc>Ttc p.L106F STOML3_ENST00000423210.1_Missense_Mutation_p.L97F NM_145286.2 NP_660329.1 Q8TAV4 STML3_HUMAN stomatin (EPB72)-like 3 106 integral to membrane|plasma membrane breast(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(1) 11 Lung NSC(96;1.42e-05)|Prostate(109;0.00851)|Breast(139;0.0199)|Lung SC(185;0.0743) all cancers(112;2.93e-08)|Epithelial(112;3.64e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00107)|BRCA - Breast invasive adenocarcinoma(63;0.00349)|GBM - Glioblastoma multiforme(144;0.0137) TCTCTGGTGAGGATCTGTGGA 0.458000 25 76 0 0 1 0 0 CSMD3 114788 broad.mit.edu 37 8 113697683 113697683 + Nonsense_Mutation SNP G G A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr8:113697683G>A ENST00000297405.5 - 15 2678 c.2434C>T c.(2434-2436)Cag>Tag p.Q812* CSMD3_ENST00000455883.2_Nonsense_Mutation_p.Q708*|CSMD3_ENST00000352409.3_Nonsense_Mutation_p.Q812*|CSMD3_ENST00000343508.3_Nonsense_Mutation_p.Q772* NM_198123.1 NP_937756.1 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 812 CUB 4. integral to membrane|plasma membrane breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7) 646 TGGTCAGCCTGAAATTCCAAT 0.393000 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 18 102 0 0 1 0 0 MGAT1 4245 broad.mit.edu 37 5 180219443 180219443 + Missense_Mutation SNP G G A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr5:180219443G>A ENST00000446023.2 - 3 1279 c.529C>T c.(529-531)Cgc>Tgc p.R177C MGAT1_ENST00000393340.3_Missense_Mutation_p.R177C|MGAT1_ENST00000307826.4_Missense_Mutation_p.R177C|MGAT1_ENST00000333055.3_Missense_Mutation_p.R177C|MGAT1_ENST00000427865.2_Missense_Mutation_p.R177C NM_001114617.1|NM_001114618.1 NP_001108089.1|NP_001108090.1 P26572 MGAT1_HUMAN mannosyl (alpha-1,3-)-glycoprotein beta-1,2-N-acetylglucosaminyltransferase 177 post-translational protein modification|protein N-linked glycosylation via asparagine Golgi membrane|integral to membrane alpha-1,3-mannosylglycoprotein 2-beta-N-acetylglucosaminyltransferase activity|metal ion binding endometrium(1)|large_intestine(2)|lung(7)|ovary(2)|urinary_tract(1) 13 all_cancers(89;1.11e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.0027)|all_lung(126;0.00351)|Breast(19;0.114) all_cancers(40;0.00356)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) TGGAACTTGCGGTGGTCCGGC 0.701000 31 69 0 0 1 0 0 ZBTB22 9278 broad.mit.edu 37 6 33284653 33284653 + Missense_Mutation SNP G G A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr6:33284653G>A ENST00000431845.2 - 2 192 c.41C>T c.(40-42)cCc>cTc p.P14L ZBTB22_ENST00000418724.1_Missense_Mutation_p.P14L NM_005453.4 NP_005444.4 O15209 ZBT22_HUMAN zinc finger and BTB domain containing 22 14 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(3) 21 CAGCGGCAGGGGAAGTGCTGC 0.647000 4 19 0 0 1 0 0 TECTA 7007 broad.mit.edu 37 11 120989063 120989063 + Missense_Mutation SNP C C T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr11:120989063C>T ENST00000392793.1 + 7 1110 c.839C>T c.(838-840)aCc>aTc p.T280I TECTA_ENST00000264037.2_Missense_Mutation_p.T280I O75443 TECTA_HUMAN tectorin alpha 280 VWFC. cell-matrix adhesion|sensory perception of sound anchored to membrane|plasma membrane|proteinaceous extracellular matrix TECTA/TBCEL(2) NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1) 135 all_hematologic(175;0.208) Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166) TTGAACTGCACCGTCAAGTGC 0.502000 13 63 0 0 1 0 0 KSR2 283455 broad.mit.edu 37 12 118198921 118198921 + Missense_Mutation SNP G G A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr12:118198921G>A ENST00000425217.1 - 4 848 c.794C>T c.(793-795)tCc>tTc p.S265F KSR2_ENST00000339824.5_Missense_Mutation_p.S294F NM_173598.4 NP_775869.3 Q6VAB6 KSR2_HUMAN kinase suppressor of ras 2 294 Pro-rich. 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) TTTTCGGGAGGAGGGCGGTGG 0.672000 26 131 0 0 1 0 0 SPAM1 6677 broad.mit.edu 37 7 123594119 123594119 + Silent SNP G G A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr7:123594119G>A ENST00000340011.5 + 3 852 c.495G>A c.(493-495)aaG>aaA p.K165K SPAM1_ENST00000460182.1_Silent_p.K165K|SPAM1_ENST00000402183.2_Silent_p.K165K|SPAM1_ENST00000439500.1_Silent_p.K165K|SPAM1_ENST00000223028.7_Silent_p.K165K NM_003117.4 NP_003108.2 P38567 HYALP_HUMAN sperm adhesion molecule 1 (PH-20 hyaluronidase, zona pellucida binding) 165 binding of sperm to zona pellucida|carbohydrate metabolic process|cell adhesion|fusion of sperm to egg plasma membrane anchored to membrane|plasma membrane hyalurononglucosaminidase activity breast(1)|cervix(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(23)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 46 Hyaluronidase(DB00070) ATGTTTACAAGAATAGGTCTA 0.393000 20 85 0 0 1 0 0 PLEC 5339 broad.mit.edu 37 8 144994260 144994260 + Silent SNP C C A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr8:144994260C>A ENST00000322810.4 - 32 10309 c.10140G>T c.(10138-10140)gtG>gtT p.V3380V PLEC_ENST00000527096.1_Silent_p.V3266V|PLEC_ENST00000345136.3_Silent_p.V3243V|PLEC_ENST00000398774.2_Silent_p.V3211V|PLEC_ENST00000356346.3_Silent_p.V3229V|PLEC_ENST00000354589.3_Silent_p.V3243V|PLEC_ENST00000357649.2_Silent_p.V3247V|PLEC_ENST00000354958.2_Silent_p.V3221V|PLEC_ENST00000436759.2_Silent_p.V3270V NM_201380.2 NP_958782.1 Q15149 PLEC_HUMAN plectin 3380 Globular 2. cellular component disassembly involved in apoptosis|hemidesmosome assembly cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma actin binding|structural constituent of muscle NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10) 137 TGAAGCCACCCACGGGGACCT 0.632000 39 58 6.97489e-18 7.16195e-18 1 1 0 SLC47A1 55244 broad.mit.edu 37 17 19470492 19470492 + Silent SNP C C T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr17:19470492C>T ENST00000270570.4 + 14 1346 c.1260C>T c.(1258-1260)ggC>ggT p.G420G SLC47A1_ENST00000436810.2_Silent_p.G397G|RP11-1113L8.1_ENST00000574267.1_RNA|SLC47A1_ENST00000575023.1_Intron|SLC47A1_ENST00000457293.1_Silent_p.G420G|SLC47A1_ENST00000395585.1_Silent_p.G420G|SLC47A1_ENST00000571335.1_Silent_p.G225G NM_018242.2 NP_060712.2 Q96FL8 S47A1_HUMAN solute carrier family 47 (multidrug and toxin extrusion), member 1 420 integral to membrane|plasma membrane drug:hydrogen antiporter activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(4)|lung(5)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1) 23 all_cancers(12;2.49e-05)|all_epithelial(12;0.00263)|Hepatocellular(7;0.00345) ATGTGGTTGGCCTCCCCATCG 0.547000 44 161 0 0 1 0 0 GOT1 2805 broad.mit.edu 37 10 101166509 101166509 + Missense_Mutation SNP G G A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr10:101166509G>A ENST00000370508.5 - 3 425 c.398C>T c.(397-399)cCt>cTt p.P133L GOT1_ENST00000543866.1_Missense_Mutation_p.P112L NM_002079.2 NP_002070.1 P17174 AATC_HUMAN glutamic-oxaloacetic transaminase 1, soluble 133 aspartate catabolic process|cellular response to insulin stimulus|gluconeogenesis|response to glucocorticoid stimulus cytosol L-aspartate:2-oxoglutarate aminotransferase activity|pyridoxal phosphate binding endometrium(2)|kidney(1)|large_intestine(6)|lung(5)|prostate(2) 16 Ovarian(717;0.028)|Colorectal(252;0.234) Epithelial(162;4.76e-10)|all cancers(201;3.84e-08) L-Aspartic Acid(DB00128)|L-Cysteine(DB00151)|L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114) CACATAGACAGGTGTGTTCTT 0.473000 9 35 0 0 1 0 0 IP6K2 51447 broad.mit.edu 37 3 48730485 48730485 + Silent SNP G G A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr3:48730485G>A ENST00000328631.5 - 3 553 c.330C>T c.(328-330)ctC>ctT p.L110L NM_001005909.2|NM_016291.3 NP_001005909.1|NP_057375.2 Q9UHH9 IP6K2_HUMAN inositol hexakisphosphate kinase 2 110 negative regulation of cell growth|phosphatidylinositol phosphorylation|positive regulation of apoptosis|type I interferon-mediated signaling pathway intermediate filament cytoskeleton|nucleus ATP binding|inositol hexakisphosphate 5-kinase activity|inositol trisphosphate 3-kinase activity biliary_tract(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(1) 15 TCCACCTTAGGAGCTTACTTT 0.408000 60 199 0 0 1 0 0 MCM9 254394 broad.mit.edu 37 6 119245020 119245020 + Missense_Mutation SNP G G A rs150656647 TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr6:119245020G>A ENST00000316316.6 - 3 863 c.577C>T c.(577-579)Cca>Tca p.P193S MCM9_ENST00000316068.3_Missense_Mutation_p.P193S NM_017696.2 NP_060166.2 Q9NXL9 MCM9_HUMAN minichromosome maintenance complex component 9 193 DNA replication ATP binding|DNA binding|nucleoside-triphosphatase activity cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 all_cancers(87;0.122)|all_epithelial(87;0.179) GBM - Glioblastoma multiforme(226;0.0676)|OV - Ovarian serous cystadenocarcinoma(136;0.194) CACCTGGTTGGAGACGAAGAC 0.418000 20 54 0 0 1 0 0 NEFH 4744 broad.mit.edu 37 22 29879464 29879464 + Silent SNP G G A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr22:29879464G>A ENST00000310624.6 + 2 1017 c.984G>A c.(982-984)agG>agA p.R328R NM_021076.3 NP_066554.2 P12036 NFH_HUMAN neurofilament, heavy polypeptide 328 Coil 2B.|Rod. cell death|nervous system development neurofilament cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|skin(3) 30 TGCAGGCCAGGACCACAGAGC 0.612000 36 115 0 0 1 0 0 CALCOCO1 57658 broad.mit.edu 37 12 54107625 54107625 + Missense_Mutation SNP G G A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr12:54107625G>A ENST00000548263.1 - 13 1699 c.1651C>T c.(1651-1653)Ccc>Tcc p.P551S CALCOCO1_ENST00000550804.1_Missense_Mutation_p.P551S|CALCOCO1_ENST00000430117.2_Missense_Mutation_p.P466S|CALCOCO1_ENST00000262059.4_Missense_Mutation_p.P551S Q9P1Z2 CACO1_HUMAN calcium binding and coiled-coil domain 1 551 C-terminal AD (CTNNB1 binding site) (By similarity). steroid hormone receptor signaling pathway|transcription, DNA-dependent|Wnt receptor signaling pathway cytoplasm armadillo repeat domain binding|beta-catenin binding|ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|sequence-specific DNA binding|transcription regulatory region DNA binding NS(2)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1) 28 AGGCCATAGGGTGGGAGCCTC 0.587000 27 81 0 0 1 0 0 KANSL2 54934 broad.mit.edu 37 12 49061521 49061521 + Missense_Mutation SNP G G A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr12:49061521G>A ENST00000550347.1 - 6 1520 c.1477C>T c.(1477-1479)Cgt>Tgt p.R493C KANSL2_ENST00000420613.2_Missense_Mutation_p.R310C|KANSL2_ENST00000553086.1_Missense_Mutation_p.R310C|KANSL2_ENST00000357861.3_Missense_Mutation_p.R115C Q9H9L4 CL041_HUMAN KAT8 regulatory NSL complex subunit 2 310 TTGGAACAACGAACATCATCC 0.443000 23 118 0 0 1 0 0 SORL1 6653 broad.mit.edu 37 11 121477623 121477623 + Missense_Mutation SNP G G T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr11:121477623G>T ENST00000260197.7 + 36 5147 c.5018G>T c.(5017-5019)tGg>tTg p.W1673L SORL1_ENST00000532694.1_Missense_Mutation_p.W519L|SORL1_ENST00000534286.1_Missense_Mutation_p.W583L|SORL1_ENST00000525532.1_Missense_Mutation_p.W617L|SORL1_ENST00000527934.1_Missense_Mutation_p.W288L NM_003105.5 NP_003096.1 Q92673 SORL_HUMAN sortilin-related receptor, L(DLR class) A repeats containing 1673 Fibronectin type-III 2. cholesterol metabolic process|lipid transport|receptor-mediated endocytosis integral to plasma membrane|low-density lipoprotein particle low-density lipoprotein particle binding|transmembrane receptor activity NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2) 91 Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113) BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108) GTAGGCCACTGGGCTCCTCCC 0.517000 43 125 1.8453e-21 1.89721e-21 1 1 0 ZMYND15 84225 broad.mit.edu 37 17 4647081 4647081 + Silent SNP C C T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr17:4647081C>T ENST00000433935.1 + 7 1374 c.1317C>T c.(1315-1317)ctC>ctT p.L439L ZMYND15_ENST00000592813.1_Silent_p.L439L|ZMYND15_ENST00000269289.6_Silent_p.L439L|ZMYND15_ENST00000573751.2_Silent_p.L439L NM_001136046.2|NM_001267822.1 NP_001129518.1|NP_001254751.1 Q9H091 ZMY15_HUMAN zinc finger, MYND-type containing 15 439 zinc ion binding endometrium(5)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|skin(2) 18 ACCAGCTTCTCCAGGGAGACG 0.632000 11 26 0 0 1 0 0 OR8B3 390271 broad.mit.edu 37 11 124266338 124266338 + Silent SNP G G A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr11:124266338G>A ENST00000354597.3 - 1 926 c.910C>T c.(910-912)Ctg>Ttg p.L304L NM_001005467.1 NP_001005467.1 Q8NGG8 OR8B3_HUMAN olfactory receptor, family 8, subfamily B, member 3 304 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity kidney(1)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 14 Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0277) ATTTTAATCAGAGCTTTCCTC 0.328000 25 92 0 0 1 0 0 FAM47C 442444 broad.mit.edu 37 X 37026557 37026557 + Missense_Mutation SNP C C T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chrX:37026557C>T ENST00000358047.3 + 1 126 c.74C>T c.(73-75)cCg>cTg p.P25L NM_001013736.2 NP_001013758.1 Q5HY64 FA47C_HUMAN family with sequence similarity 47, member C 25 p.P25L(2) breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1) 120 TGTGACAAACCGCCTTCCAAG 0.647000 5 24 0 0 1 0 0 FAM13C 220965 broad.mit.edu 37 10 61011251 61011251 + Missense_Mutation SNP C C T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr10:61011251C>T ENST00000435852.2 - 13 1765 c.1718G>A c.(1717-1719)cGg>cAg p.R573Q FAM13C_ENST00000277705.6_Intron|FAM13C_ENST00000468840.2_Intron|FAM13C_ENST00000419214.2_Intron|FAM13C_ENST00000373867.3_Intron|FAM13C_ENST00000373868.2_Intron|FAM13C_ENST00000442566.3_Intron Q8NE31 FA13C_HUMAN family with sequence similarity 13, member C 0 NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 45 AAAAAGTCACCGTTCCTGCAA 0.358000 13 44 0 0 1 0 0 NCAPD3 23310 broad.mit.edu 37 11 134047120 134047120 + Silent SNP G G A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr11:134047120G>A ENST00000534548.2 - 23 3079 c.3015C>T c.(3013-3015)ctC>ctT p.L1005L NM_015261.2 NP_056076.1 P42695 CNDD3_HUMAN non-SMC condensin II complex, subunit D3 1005 cell division|mitotic chromosome condensation nuclear centromeric heterochromatin|nuclear condensin complex methylated histone residue binding NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 71 all_hematologic(175;0.127) all_cancers(12;1.68e-21)|all_epithelial(12;5.86e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559) Epithelial(10;8.74e-10)|BRCA - Breast invasive adenocarcinoma(10;1e-08)|all cancers(11;1.46e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00345)|Lung(977;0.227) GCACCTGCAAGAGATTGGTAA 0.458000 21 57 0 0 1 0 0 HIVEP2 3097 broad.mit.edu 37 6 143093351 143093351 + Missense_Mutation SNP G G A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr6:143093351G>A ENST00000367603.2 - 5 3267 c.2525C>T c.(2524-2526)tCa>tTa p.S842L HIVEP2_ENST00000012134.2_Missense_Mutation_p.S842L|HIVEP2_ENST00000367604.1_Missense_Mutation_p.S842L NM_006734.3 NP_006725.3 P31629 ZEP2_HUMAN human immunodeficiency virus type I enhancer binding protein 2 842 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(2)|breast(4)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(19)|lung(35)|ovary(4)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 100 OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102) TGGGGCTTCTGAAATCTCACT 0.547000 15 34 0 0 1 0 0 ADH1A 124 broad.mit.edu 37 4 100208729 100208729 + Missense_Mutation SNP G G A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr4:100208729G>A ENST00000209668.2 - 2 225 c.112C>T c.(112-114)Cgt>Tgt p.R38C ADH1A_ENST00000511656.1_5'UTR|RP11-696N14.1_ENST00000500358.2_RNA NM_000667.3 NP_000658.1 P07327 ADH1A_HUMAN alcohol dehydrogenase 1A (class I), alpha polypeptide 38 ethanol oxidation|transcription, DNA-dependent|xenobiotic metabolic process cytosol alcohol dehydrogenase activity, zinc-dependent|protein binding|zinc ion binding endometrium(2)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(1) 25 OV - Ovarian serous cystadenocarcinoma(123;9.56e-08) Fomepizole(DB01213)|NADH(DB00157) ACCTTAATACGAACTTCATGG 0.348000 9 50 0 0 1 0 0 OR1D4 653166 broad.mit.edu 37 17 3144330 3144330 + RNA SNP G G A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr17:3144330G>A ENST00000531680.1 + 0 361 NR_033795.1 olfactory receptor, family 1, subfamily D, member 4 (gene/pseudogene) GATGGCGTATGATCGCTATGT 0.567000 13 64 0 0 1 0 0 IGHV1-3 28473 broad.mit.edu 37 14 106471667 106471667 + RNA SNP C C T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr14:106471667C>T ENST00000390595.2 - 0 56 AGAGGATCCTCCAGGTCCAGT 0.557000 6 35 0 0 1 0 0 PLCE1 51196 broad.mit.edu 37 10 95792002 95792002 + Nonsense_Mutation SNP G G A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr10:95792002G>A ENST00000260766.3 + 2 1833 c.1199G>A c.(1198-1200)tGg>tAg p.W400* PLCE1_ENST00000371380.2_Nonsense_Mutation_p.W400* NM_016341.3 NP_057425.3 Q9P212 PLCE1_HUMAN phospholipase C, epsilon 1 400 activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|Ras protein signal transduction|regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of smooth muscle contraction cytosol|Golgi membrane|membrane fraction|plasma membrane calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|Ras GTPase binding|receptor signaling protein activity liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1) 8 Colorectal(252;0.0458) GAAGCCCAGTGGTATCCTGTA 0.393000 16 49 0 0 1 0 0 IFNE 338376 broad.mit.edu 37 9 21481523 21481523 + Silent SNP C C T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr9:21481523C>T ENST00000448696.3 - 1 789 c.171G>A c.(169-171)agG>agA p.R57R MIR31HG_ENST00000304425.3_RNA NM_176891.4 NP_795372.1 Q86WN2 IFNE_HUMAN interferon, epsilon 57 defense response|response to virus extracellular space cytokine activity|cytokine receptor binding large_intestine(2)|lung(1)|skin(1) 4 GAAAGTTTTTCCTGTGTGGTA 0.413000 24 76 0 0 1 0 0 ICK 22858 broad.mit.edu 37 6 52905945 52905945 + Silent SNP G G A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr6:52905945G>A ENST00000356971.3 - 3 579 c.90C>T c.(88-90)atC>atT p.I30I ICK_ENST00000350082.5_Silent_p.I30I NM_016513.4 NP_057597.2 Q9UPZ9 ICK_HUMAN intestinal cell (MAK-like) kinase 30 Protein kinase. intracellular protein kinase cascade|multicellular organismal development cytosol|nucleus ATP binding|cyclin-dependent protein kinase activity|magnesium ion binding breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(3)|stomach(1) 31 Lung NSC(77;0.103) TTTTAATAGCGATCAGCTCCC 0.473000 38 105 0 0 1 0 0 ACSM4 341392 broad.mit.edu 37 12 7463275 7463275 + Missense_Mutation SNP C C T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr12:7463275C>T ENST00000399422.4 + 3 601 c.553C>T c.(553-555)Ctt>Ttt p.L185F NM_001080454.1 NP_001073923.1 P0C7M7 ACSM4_HUMAN acyl-CoA synthetase medium-chain family member 4 185 fatty acid metabolic process mitochondrial matrix ATP binding|butyrate-CoA ligase activity|metal ion binding endometrium(6)|kidney(1)|lung(14) 21 GTGTCCTGACCTTAAGACAAA 0.527000 5 16 0 0 1 0 0 ECHS1 1892 broad.mit.edu 37 10 135184102 135184102 + Missense_Mutation SNP C C T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr10:135184102C>T ENST00000368547.3 - 2 603 c.248G>A c.(247-249)gGg>gAg p.G83E NM_004092.3 NP_004083.3 P30084 ECHM_HUMAN enoyl CoA hydratase, short chain, 1, mitochondrial 83 fatty acid beta-oxidation mitochondrial matrix enoyl-CoA hydratase activity|protein binding NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(2)|prostate(1)|skin(1) 10 all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203) all cancers(32;1.62e-06)|OV - Ovarian serous cystadenocarcinoma(35;5.75e-06)|Epithelial(32;7.58e-06) GACAATGGCCCCCACGGCCGG 0.627000 9 19 0 0 1 0 0 HAS2 3037 broad.mit.edu 37 8 122626951 122626951 + Missense_Mutation SNP G G A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr8:122626951G>A ENST00000303924.4 - 4 1594 c.1057C>T c.(1057-1059)Cgt>Tgt p.R353C NM_005328.2 NP_005319.1 Q92819 HAS2_HUMAN hyaluronan synthase 2 353 integral to plasma membrane hyaluronan synthase activity HAS2/PLAG1(10) breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(19)|ovary(5)|skin(1) 38 Lung NSC(37;3.12e-08)|Ovarian(258;0.0254)|Hepatocellular(40;0.0997)|all_neural(195;0.142) STAD - Stomach adenocarcinoma(47;0.00503) TTGCTCCAACGGGTCTGCTGG 0.463000 76 137 0 0 1 0 0 RASGRF1 5923 broad.mit.edu 37 15 79312443 79312443 + Missense_Mutation SNP C C T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr15:79312443C>T ENST00000419573.3 - 11 1820 c.1546G>A c.(1546-1548)Gga>Aga p.G516R RASGRF1_ENST00000560334.1_5'UTR|RASGRF1_ENST00000558480.2_Missense_Mutation_p.G516R NM_002891.4 NP_002882.3 Q13972 RGRF1_HUMAN Ras protein-specific guanine nucleotide-releasing factor 1 516 PH 2. activation of Rac GTPase activity|apoptosis|induction of apoptosis by extracellular signals|long-term memory|nerve growth factor receptor signaling pathway|neuron projection development|regulation of Rac protein signal transduction|small GTPase mediated signal transduction|synaptic transmission cytosol|growth cone|plasma membrane|synaptosome Rho guanyl-nucleotide exchange factor activity breast(2)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(18)|lung(23)|ovary(2)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 71 GATATGACTCCATTCTGAAAA 0.502000 23 84 0 0 1 0 0 USH2A 7399 broad.mit.edu 37 1 216591896 216591896 + Missense_Mutation SNP C C T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr1:216591896C>T ENST00000366943.2 - 3 997 c.611G>A c.(610-612)gGg>gAg p.G204E USH2A_ENST00000366942.3_Missense_Mutation_p.G204E|USH2A_ENST00000307340.3_Missense_Mutation_p.G204E O75445 USH2A_HUMAN Usher syndrome 2A (autosomal recessive, mild) 204 maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound basement membrane|cytoplasm|integral to membrane|stereocilium membrane collagen binding NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3) 527 OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875) AAGAATTCTCCCCAGTGTCAT 0.343000 HNSCC(13;0.011) 16 77 0 0 1 0 0 DHCR7 1717 broad.mit.edu 37 11 71152365 71152365 + Silent SNP G G A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr11:71152365G>A ENST00000355527.3 - 6 810 c.534C>T c.(532-534)atC>atT p.I178I DHCR7_ENST00000407721.2_Silent_p.I178I NM_001163817.1|NM_001360.2 NP_001157289.1|NP_001351.2 Q9UBM7 DHCR7_HUMAN 7-dehydrocholesterol reductase 178 cholesterol biosynthetic process endoplasmic reticulum membrane|integral to membrane|nuclear outer membrane 7-dehydrocholesterol reductase activity|protein binding endometrium(2)|kidney(1)|large_intestine(3)|liver(1)|lung(10)|ovary(1)|skin(1) 19 NADH(DB00157) ACAGCAGTGGGATCCAGTTGT 0.577000 Smith-Lemli-Opitz syndrome 18 59 0 0 1 0 0 GPRIN2 9721 broad.mit.edu 37 10 46998916 46998916 + Silent SNP A A C TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr10:46998916A>C ENST00000374314.4 + 1 991 c.36A>C c.(34-36)gcA>gcC p.A12A GPRIN2_ENST00000374317.1_Silent_p.A12A O60269 GRIN2_HUMAN G protein regulated inducer of neurite outgrowth 2 12 breast(2)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(1)|lung(6)|prostate(1) 18 GTCCCTGGGCACCCCTGAGCC 0.662000 14 130 0 0 1 0 0 LRRC37A4P 55073 broad.mit.edu 37 17 43587569 43587569 + RNA SNP G G C rs149697015 by1000genomes TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr17:43587569G>C ENST00000253803.2 + 0 267 LRRC37A4P_ENST00000579913.1_RNA aactccgtctgaaaagaaaag 0.443000 3 22 0 0 1 0 0 C15orf48 84419 broad.mit.edu 37 15 45724290 45724290 + Missense_Mutation SNP C C T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr15:45724290C>T ENST00000344300.3 + 3 333 c.143C>T c.(142-144)cCa>cTa p.P48L RP11-519G16.5_ENST00000559553.1_RNA|C15orf48_ENST00000396650.2_Missense_Mutation_p.P48L NM_032413.3 NP_115789.1 Q9C002 NMES1_HUMAN chromosome 15 open reading frame 48 48 nucleus large_intestine(1)|lung(2)|ovary(1) 4 Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027) all cancers(107;1.67e-16)|GBM - Glioblastoma multiforme(94;1.71e-06) AAAAAAAATCCAGAACCTTGG 0.318000 4 28 0 0 1 0 0 PRR16 51334 broad.mit.edu 37 5 120022042 120022042 + Nonsense_Mutation SNP C C T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr5:120022042C>T ENST00000379551.2 + 3 841 c.484C>T c.(484-486)Cag>Tag p.Q162* PRR16_ENST00000446965.1_Nonsense_Mutation_p.Q115*|PRR16_ENST00000505123.1_Nonsense_Mutation_p.Q115*|PRR16_ENST00000407149.2_Nonsense_Mutation_p.Q185* NM_016644.1 NP_057728.1 Q569H4 PRR16_HUMAN proline rich 16 185 Pro-rich. endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 28 all_cancers(142;0.0464)|Prostate(80;0.00446) KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221) OV - Ovarian serous cystadenocarcinoma(64;0.000126)|Epithelial(69;0.000331)|all cancers(49;0.00169) GGCTCCAGTCCAGCTTCTGAT 0.473000 17 58 0 0 1 0 0 C3orf56 285311 broad.mit.edu 37 3 126916098 126916098 + Nonsense_Mutation SNP G G A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr3:126916098G>A ENST00000398112.1 + 2 810 c.570G>A c.(568-570)tgG>tgA p.W190* NM_001007534.2 NP_001007535.1 chromosome 3 open reading frame 56 breast(1)|endometrium(2)|kidney(1)|lung(5) 9 GBM - Glioblastoma multiforme(114;0.142) CCTCAGAATGGGCCTCCAGGT 0.622000 13 29 0 0 1 0 0 MYBPC1 4604 broad.mit.edu 37 12 102056192 102056192 + Missense_Mutation SNP G G A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr12:102056192G>A ENST00000549145.1 + 20 2153 c.2053G>A c.(2053-2055)Gat>Aat p.D685N MYBPC1_ENST00000361685.2_Missense_Mutation_p.D697N|MYBPC1_ENST00000541119.1_Missense_Mutation_p.D660N|MYBPC1_ENST00000547405.1_Missense_Mutation_p.D646N|MYBPC1_ENST00000550501.1_Intron|MYBPC1_ENST00000550270.1_Missense_Mutation_p.D672N|MYBPC1_ENST00000553190.1_Missense_Mutation_p.D672N|MYBPC1_ENST00000361466.2_Missense_Mutation_p.D697N|MYBPC1_ENST00000545503.2_Missense_Mutation_p.D672N|MYBPC1_ENST00000392934.3_Missense_Mutation_p.D659N|MYBPC1_ENST00000360610.2_Missense_Mutation_p.D672N|MYBPC1_ENST00000547509.1_Missense_Mutation_p.D658N|MYBPC1_ENST00000452455.2_Missense_Mutation_p.D672N|MYBPC1_ENST00000551300.1_Missense_Mutation_p.D573N|MYBPC1_ENST00000441232.1_Missense_Mutation_p.D672N|MYBPC1_ENST00000536007.1_Missense_Mutation_p.D653N Q00872 MYPC1_HUMAN myosin binding protein C, slow type 672 Fibronectin type-III 1. cell adhesion|muscle filament sliding cytosol|myofibril|myosin filament actin binding|structural constituent of muscle|titin binding breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2) 57 GCTGAATTTTGATCTCTGCAA 0.428000 8 54 0 0 1 0 0 KCNJ6 3763 broad.mit.edu 37 21 39087323 39087323 + Missense_Mutation SNP C C T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr21:39087323C>T ENST00000400482.3 - 3 726 c.137G>A c.(136-138)cGa>cAa p.R46Q KCNJ6_ENST00000288309.6_Missense_Mutation_p.R46Q NM_002240.3 NP_002231.1 P48051 IRK6_HUMAN potassium inwardly-rectifying channel, subfamily J, member 6 46 synaptic transmission Golgi apparatus|voltage-gated potassium channel complex G-protein activated inward rectifier potassium channel activity|protein binding breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1) 22 Halothane(DB01159) GGTCCGATCTCGGCTGATGTG 0.547000 31 95 0 0 1 0 0 PKD2L1 9033 broad.mit.edu 37 10 102059467 102059467 + Missense_Mutation SNP C C T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr10:102059467C>T ENST00000318222.3 - 3 740 c.358G>A c.(358-360)Gga>Aga p.G120R PKD2L1_ENST00000353274.3_Missense_Mutation_p.G120R|PKD2L1_ENST00000338519.3_Missense_Mutation_p.G120R NM_001253837.1|NM_016112.2 NP_001240766.1|NP_057196.2 Q9P0L9 PK2L1_HUMAN polycystic kidney disease 2-like 1 120 signal transduction integral to membrane calcium activated cation channel activity|calcium ion binding|cytoskeletal protein binding NS(2)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1) 43 Colorectal(252;0.117) Epithelial(162;6.15e-10)|all cancers(201;5.14e-08) CTTGTCATTCCATAGGTCACT 0.483000 25 96 0 0 1 0 0 CSMD3 114788 broad.mit.edu 37 8 113259285 113259285 + Missense_Mutation SNP C C T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr8:113259285C>T ENST00000297405.5 - 64 10430 c.10186G>A c.(10186-10188)Gat>Aat p.D3396N CSMD3_ENST00000455883.2_Missense_Mutation_p.D3227N|CSMD3_ENST00000352409.3_Missense_Mutation_p.D3326N|CSMD3_ENST00000343508.3_Missense_Mutation_p.D3356N NM_198123.1 NP_937756.1 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 3396 Sushi 27. integral to membrane|plasma membrane breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7) 646 CACGTAAGATCAGGGAGGCAG 0.398000 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 9 50 0 0 1 0 0 CR1 1378 broad.mit.edu 37 1 207741239 207741239 + Silent SNP C C T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr1:207741239C>T ENST00000367049.4 + 25 4023 c.4023C>T c.(4021-4023)ccC>ccT p.P1341P CR1_ENST00000400960.2_Silent_p.P891P|CR1_ENST00000367053.1_Silent_p.P891P|RP11-78B10.2_ENST00000597497.1_RNA|CR1_ENST00000367052.1_Intron|CR1_ENST00000367051.1_Silent_p.P891P NM_000651.4 NP_000642.3 P17927 CR1_HUMAN complement component (3b/4b) receptor 1 (Knops blood group) 891 Sushi 21. complement activation, classical pathway|innate immune response integral to plasma membrane complement receptor activity p.P896P(1) NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 82 AAGTCTTTCCCTTTGGAAAAG 0.468000 58 178 0 0 1 0 0 CEACAM21 90273 broad.mit.edu 37 19 42083885 42083885 + Missense_Mutation SNP A A G TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr19:42083885A>G ENST00000187608.9 + 2 438 c.398A>G c.(397-399)cAg>cGg p.Q133R CEACAM21_ENST00000401445.2_Missense_Mutation_p.Q133R|CEACAM21_ENST00000407170.2_5'UTR|CEACAM21_ENST00000482870.2_3'UTR NM_001098506.1|NM_033543.3 NP_001091976.1|NP_291021.2 Q3KPI0 CEA21_HUMAN carcinoembryonic antigen-related cell adhesion molecule 21 133 integral to membrane endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|urinary_tract(1) 13 CAGATTGAACAGGCATCTCAC 0.507000 25 64 0 0 1 0 0 ANK1 286 broad.mit.edu 37 8 41566359 41566359 + Silent SNP C C T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr8:41566359C>T ENST00000396942.1 - 17 2018 c.1935G>A c.(1933-1935)gaG>gaA p.E645E ANK1_ENST00000289734.7_Silent_p.E645E|ANK1_ENST00000265709.8_Silent_p.E678E|ANK1_ENST00000347528.4_Silent_p.E645E|ANK1_ENST00000379758.2_Silent_p.E645E|ANK1_ENST00000352337.4_Silent_p.E645E|ANK1_ENST00000396945.1_Silent_p.E645E P16157 ANK1_HUMAN ankyrin 1, erythrocytic 645 89 kDa domain. axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 122 Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211) all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188) OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264) CTGCGTGGCCCTCCTGGGCGG 0.622000 30 161 0 0 1 0 0 GPAA1 8733 broad.mit.edu 37 8 145138667 145138667 + Silent SNP C C T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr8:145138667C>T ENST00000355091.4 + 4 538 c.417C>T c.(415-417)gcC>gcT p.A139A GPAA1_ENST00000527144.1_3'UTR|GPAA1_ENST00000361036.6_Silent_p.A79A NM_003801.3 NP_003792.1 O43292 GPAA1_HUMAN glycosylphosphatidylinositol anchor attachment 1 139 attachment of GPI anchor to protein|C-terminal protein lipidation|protein complex assembly|protein retention in ER lumen GPI-anchor transamidase complex tubulin binding breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|upper_aerodigestive_tract(2) 19 all_cancers(97;2.87e-11)|all_epithelial(106;2.16e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.02e-40)|all cancers(56;2.11e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105) CGCGTGCTGCCAGCACCGAGT 0.652000 13 43 0 0 1 0 0 HID1 283987 broad.mit.edu 37 17 72954844 72954844 + Silent SNP G G A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr17:72954844G>A ENST00000425042.2 - 10 1241 c.1164C>T c.(1162-1164)ttC>ttT p.F388F NM_030630.2 NP_085133.1 HID1 domain containing TCTTCAGCACGAAGAAGAGGA 0.612000 OREG0024721 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 14 28 0 0 1 0 0 RNF20 56254 broad.mit.edu 37 9 104297796 104297796 + Missense_Mutation SNP A A G TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr9:104297796A>G ENST00000389120.3 + 2 181 c.91A>G c.(91-93)Aca>Gca p.T31A RNF20_ENST00000481046.1_3'UTR NM_019592.5 NP_062538.5 Q5VTR2 BRE1A_HUMAN ring finger protein 20, E3 ubiquitin protein ligase 31 histone H2B ubiquitination|histone monoubiquitination|negative regulation of cell migration|positive regulation of transcription, DNA-dependent|protein polyubiquitination|ubiquitin-dependent protein catabolic process nucleolus|ubiquitin ligase complex histone binding|p53 binding|transcription coactivator activity|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding breast(3)|endometrium(3)|kidney(6)|large_intestine(7)|lung(23)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 54 all_hematologic(171;8.99e-06)|Acute lymphoblastic leukemia(62;0.000365)|Myeloproliferative disorder(762;0.0255) OV - Ovarian serous cystadenocarcinoma(323;2.88e-19)|STAD - Stomach adenocarcinoma(157;0.00311) TTCAGGGACCACAGTGGAAAC 0.453000 8 49 0 0 1 0 0 EBF2 64641 broad.mit.edu 37 8 25708118 25708118 + Missense_Mutation SNP C C T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr8:25708118C>T ENST00000520164.1 - 15 2225 c.1688G>A c.(1687-1689)gGa>gAa p.G563E EBF2_ENST00000535548.1_3'UTR|EBF2_ENST00000408929.3_Missense_Mutation_p.G415E NM_022659.3 NP_073150.2 Q9HAK2 COE2_HUMAN early B-cell factor 2 563 multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|metal ion binding endometrium(3)|kidney(2)|large_intestine(3)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 39 all_cancers(63;0.0989)|Ovarian(32;2.74e-05)|all_epithelial(46;0.0608)|Prostate(55;0.0845) UCEC - Uterine corpus endometrioid carcinoma (27;0.0277)|Epithelial(17;3.29e-10)|Colorectal(74;0.00383)|COAD - Colon adenocarcinoma(73;0.00738) ACCTCTGAATCCATTTCCATT 0.488000 26 157 0 0 1 0 0 PCDHB1 29930 broad.mit.edu 37 5 140432091 140432091 + Missense_Mutation SNP G G A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr5:140432091G>A ENST00000306549.3 + 1 1113 c.1036G>A c.(1036-1038)Gaa>Aaa p.E346K NM_013340.2 NP_037472.2 Q9Y5F3 PCDB1_HUMAN 346 Cadherin 3. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|liver(1)|lung(13)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1) 53 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) CAATCCTCCCGAAGTGATGGT 0.517000 37 79 0 0 1 0 0 NUP93 9688 broad.mit.edu 37 16 56875705 56875705 + Missense_Mutation SNP C C T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr16:56875705C>T ENST00000564887.1 + 19 2569 c.1940C>T c.(1939-1941)tCg>tTg p.S647L NUP93_ENST00000569842.1_Missense_Mutation_p.S770L|NUP93_ENST00000542526.1_Missense_Mutation_p.S647L|NUP93_ENST00000308159.5_Missense_Mutation_p.S770L NM_001242795.1 NP_001229724.1 Q8N1F7 NUP93_HUMAN nucleoporin 93kDa 770 carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction nuclear pore protein binding breast(2)|endometrium(6)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 27 AGTCCATCCTCGTCATCCAGG 0.512000 24 107 0 0 1 0 0 PKHD1L1 93035 broad.mit.edu 37 8 110457569 110457569 + Missense_Mutation SNP G G A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr8:110457569G>A ENST00000378402.5 + 38 5575 c.5471G>A c.(5470-5472)gGa>gAa p.G1824E NM_177531.4 NP_803875.2 Q86WI1 PKHL1_HUMAN polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 1824 IPT/TIG 10. immune response cytosol|extracellular space|integral to membrane receptor activity NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4) 263 OV - Ovarian serous cystadenocarcinoma(57;9.88e-13) TTGGCTCTGGGAAACCTGACT 0.473000 HNSCC(38;0.096) 17 95 0 0 1 0 0 GRIN2A 2903 broad.mit.edu 37 16 9857492 9857492 + Silent SNP G G A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr16:9857492G>A ENST00000396573.2 - 14 4218 c.3909C>T c.(3907-3909)gaC>gaT p.D1303D GRIN2A_ENST00000396575.2_Silent_p.D1303D|GRIN2A_ENST00000562109.1_Intron|GRIN2A_ENST00000330684.3_Silent_p.D1303D|GRIN2A_ENST00000404927.2_Intron|GRIN2A_ENST00000535259.1_Intron NM_000833.3 NP_000824.1 Q12879 NMDE1_HUMAN glutamate receptor, ionotropic, N-methyl D-aspartate 2A 1303 response to ethanol cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1) 198 Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043) GCCTGCTAAGGTCTAGCTCCC 0.493000 32 88 0 0 1 0 0 MACF1 23499 broad.mit.edu 37 1 39788335 39788335 + Missense_Mutation SNP C C T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr1:39788335C>T ENST00000564288.1 + 32 4862 c.4085C>T c.(4084-4086)tCc>tTc p.S1362F MACF1_ENST00000567887.1_Missense_Mutation_p.S1399F|MACF1_ENST00000539005.1_Missense_Mutation_p.S1367F|MACF1_ENST00000317713.7_Missense_Mutation_p.S1367F|MACF1_ENST00000545844.1_Missense_Mutation_p.S1367F|MACF1_ENST00000476350.1_3'UTR|MACF1_ENST00000372915.3_Missense_Mutation_p.S1367F|MACF1_ENST00000361689.2_Missense_Mutation_p.S1367F Q9UPN3 MACF1_HUMAN microtubule-actin crosslinking factor 1 1367 cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing Golgi apparatus|microtubule|ruffle membrane actin filament binding|ATPase activity|calcium ion binding|microtubule binding breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10) 203 Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204) CAGCAGAAATCCCCTGGCAAG 0.468000 32 106 0 0 1 0 0 PAPPA 5069 broad.mit.edu 37 9 118982375 118982375 + Nonsense_Mutation SNP G G A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr9:118982375G>A ENST00000328252.3 + 5 2447 c.2078G>A c.(2077-2079)tGg>tAg p.W693* PAPPA_ENST00000534838.1_Intron NM_002581.3 NP_002572.2 Q13219 PAPP1_HUMAN pregnancy-associated plasma protein A, pappalysin 1 693 cell differentiation|female pregnancy cytoplasm|extracellular region|membrane metalloendopeptidase activity|zinc ion binding NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1) 98 ACACTGGAGTGGTTCCCACCT 0.562000 37 156 0 0 1 0 0 NLRP13 126204 broad.mit.edu 37 19 56423937 56423937 + Missense_Mutation SNP C C T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr19:56423937C>T ENST00000588751.1 - 5 1270 c.1246G>A c.(1246-1248)Gaa>Aaa p.E416K NLRP13_ENST00000342929.3_Missense_Mutation_p.E416K Q86W25 NAL13_HUMAN NLR family, pyrin domain containing 13 416 NACHT. ATP binding NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1) 109 Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218) GBM - Glioblastoma multiforme(193;0.0642) AAGAGAGTTTCGTTTTTTCTT 0.463000 22 67 0 0 1 0 0 NRK 203447 broad.mit.edu 37 X 105193629 105193629 + Missense_Mutation SNP G G A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chrX:105193629G>A ENST00000428173.2 + 27 4722 c.4419G>A c.(4417-4419)atG>atA p.M1473I NRK_ENST00000243300.9_Missense_Mutation_p.M1472I|NRK_ENST00000540278.1_Missense_Mutation_p.M53I Q7Z2Y5 NRK_HUMAN Nik related kinase 1472 CNH. ATP binding|protein serine/threonine kinase activity|small GTPase regulator activity breast(8)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(14)|lung(36)|ovary(3)|prostate(1)|skin(2) 76 GAATTGGCATGATGCTCACCT 0.373000 HNSCC(51;0.14) 14 41 0 0 1 0 0 DNAH5 1767 broad.mit.edu 37 5 13829767 13829767 + Missense_Mutation SNP A A G TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr5:13829767A>G ENST00000265104.4 - 38 6400 c.6296T>C c.(6295-6297)aTt>aCt p.I2099T NM_001369.2 NP_001360.1 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 2099 AAA 1 (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) GCGGAAATTAATCTTCAAGTT 0.463000 Kartagener syndrome 13 87 0 0 1 0 0 NLRP12 91662 broad.mit.edu 37 19 54310827 54310827 + Missense_Mutation SNP C C T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr19:54310827C>T ENST00000324134.6 - 4 2333 c.2165G>A c.(2164-2166)cGa>cAa p.R722Q NLRP12_ENST00000345770.5_Missense_Mutation_p.R723Q|NLRP12_ENST00000535162.1_Missense_Mutation_p.R722Q|NLRP12_ENST00000391772.1_Missense_Mutation_p.R723Q|NLRP12_ENST00000391773.1_Missense_Mutation_p.R723Q|NLRP12_ENST00000391775.3_Missense_Mutation_p.R722Q|NLRP12_ENST00000354278.3_Missense_Mutation_p.R722Q|NLRP12_ENST00000351894.4_Missense_Mutation_p.R722Q NM_001277126.1|NM_144687.2 NP_001264055.1|NP_653288.1 P59046 NAL12_HUMAN NLR family, pyrin domain containing 12 722 negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|negative regulation of Toll signaling pathway|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB cytoplasm ATP binding|caspase activator activity|protein binding p.R722Q(1) NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 80 Ovarian(34;0.19) GBM - Glioblastoma multiforme(134;0.026) CAGGGCATTTCGGTACAGAGA 0.582000 17 39 0 0 1 0 0 LMO3 55885 broad.mit.edu 37 12 16713473 16713473 + Splice_Site SNP C C T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr12:16713473C>T ENST00000320122.6 - 3 729 c.e3-1 LMO3_ENST00000541295.1_Splice_Site|LMO3_ENST00000540445.1_Splice_Site|LMO3_ENST00000540848.1_Splice_Site|LMO3_ENST00000354662.1_Splice_Site|LMO3_ENST00000261169.6_Splice_Site|LMO3_ENST00000541846.1_Splice_Site|LMO3_ENST00000537304.1_Splice_Site|LMO3_ENST00000447609.1_Splice_Site|LMO3_ENST00000534946.1_Splice_Site|LMO3_ENST00000535535.1_Splice_Site|LMO3_ENST00000441439.2_Splice_Site NM_001243611.1 NP_001230540.1 Q8TAP4 LMO3_HUMAN LIM domain only 3 (rhombotin-like 2) regulation of transcription, DNA-dependent|transcription, DNA-dependent zinc ion binding endometrium(2)|large_intestine(2)|skin(1) 5 Hepatocellular(102;0.244) ACCAAAGAGCCTAGAATAAGA 0.408000 10 30 0 0 1 0 0 KIF27 55582 broad.mit.edu 37 9 86518517 86518517 + Silent SNP G G A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr9:86518517G>A ENST00000297814.2 - 4 1059 c.916C>T c.(916-918)Ctg>Ttg p.L306L KIF27_ENST00000413982.1_Silent_p.L306L|KIF27_ENST00000334204.2_Silent_p.L306L NM_017576.1 NP_060046.1 Q86VH2 KIF27_HUMAN kinesin family member 27 306 cilium assembly|microtubule-based movement cilium|cytoplasm|microtubule ATP binding|microtubule motor activity breast(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(7)|lung(17)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1) 43 CTGCCTCCCAGAGAATCTTTC 0.458000 24 78 0 0 1 0 0 CDK5RAP2 55755 broad.mit.edu 37 9 123334274 123334274 + Silent SNP G G A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr9:123334274G>A ENST00000349780.4 - 2 284 c.105C>T c.(103-105)ccC>ccT p.P35P CDK5RAP2_ENST00000359309.3_Silent_p.P35P|CDK5RAP2_ENST00000360190.4_Silent_p.P35P|CDK5RAP2_ENST00000360822.3_Silent_p.P35P NM_018249.4 NP_060719.4 Q96SN8 CK5P2_HUMAN CDK5 regulatory subunit associated protein 2 35 brain development|centrosome organization|chromosome segregation|G2/M transition of mitotic cell cycle|microtubule bundle formation|negative regulation of centriole replication|positive regulation of transcription, DNA-dependent|regulation of neuron differentiation|regulation of spindle checkpoint cytosol|Golgi apparatus|microtubule|pericentriolar material|perinuclear region of cytoplasm|spindle pole calmodulin binding|microtubule binding|neuronal Cdc2-like kinase binding|transcription regulatory region DNA binding breast(6)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1) 58 ACCCAGCATTGGGGTTGATGC 0.448000 26 43 0 0 1 0 0 USP7 7874 broad.mit.edu 37 16 8994415 8994415 + Missense_Mutation SNP T T A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr16:8994415T>A ENST00000344836.4 - 21 2479 c.2281A>T c.(2281-2283)Atg>Ttg p.M761L USP7_ENST00000535863.1_Missense_Mutation_p.M662L|USP7_ENST00000381886.4_Missense_Mutation_p.M745L NM_003470.2 NP_003461.2 Q93009 UBP7_HUMAN ubiquitin specific peptidase 7 (herpes virus-associated) 761 Interaction with ICP0/VMW110. interspecies interaction between organisms|multicellular organismal development|protein deubiquitination|regulation of sequence-specific DNA binding transcription factor activity|ubiquitin-dependent protein catabolic process cytoplasm|PML body cysteine-type endopeptidase activity|p53 binding|protein C-terminus binding|transcription factor binding|ubiquitin protein ligase binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(13)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1) 48 TCACCATCCATTAGTTCATCA 0.323000 7 69 0 0 1 0 0 NRAS 4893 broad.mit.edu 37 1 115256530 115256530 + Missense_Mutation SNP G G T rs121913254 TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr1:115256530G>T ENST00000369535.4 - 3 434 c.181C>A c.(181-183)Caa>Aaa p.Q61K NM_002524.4 NP_002515.1 P01111 RASN_HUMAN neuroblastoma RAS viral (v-ras) oncogene homolog 61 Q -> K (in neuroblastoma cell).|Q -> R (in lung carcinoma cell and melanoma; dbSNP:rs11554290). 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|Ras protein signal transduction Golgi membrane|plasma membrane GTP binding|GTPase activity p.Q61K(595)|p.Q61E(9)|p.Q61L(3)|p.Q61R(2)|p.G60>?(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) 78 117 2.17451e-35 2.23855e-35 1 1 0 CTCFL 140690 broad.mit.edu 37 20 56094421 56094421 + Missense_Mutation SNP G G A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr20:56094421G>A ENST00000426658.2 - 3 1428 c.767C>T c.(766-768)aCc>aTc p.T256I CTCFL_ENST00000243914.3_Missense_Mutation_p.T256I|CTCFL_ENST00000502686.2_5'UTR|CTCFL_ENST00000433949.2_Missense_Mutation_p.T256I|CTCFL_ENST00000423479.2_Missense_Mutation_p.T256I|CTCFL_ENST00000432255.2_Missense_Mutation_p.T256I|CTCFL_ENST00000539382.1_Missense_Mutation_p.T51I|CTCFL_ENST00000429804.2_Missense_Mutation_p.T256I|CTCFL_ENST00000422869.2_Missense_Mutation_p.T256I|CTCFL_ENST00000481655.1_5'UTR|CTCFL_ENST00000422109.2_Missense_Mutation_p.T256I|CTCFL_ENST00000371196.2_Missense_Mutation_p.T256I Q8NI51 CTCFL_HUMAN CCCTC-binding factor (zinc finger protein)-like 256 cell cycle|DNA methylation involved in gamete generation|histone methylation|positive regulation of transcription, DNA-dependent|regulation of gene expression by genetic imprinting|regulation of histone H3-K4 methylation|transcription, DNA-dependent cytoplasm|nucleus histone binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding NS(1)|breast(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(28)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 58 Lung NSC(12;0.00132)|all_lung(29;0.00433)|Melanoma(10;0.242) BRCA - Breast invasive adenocarcinoma(13;3.95e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.09e-07) ACAGTGGAAGGTTCCTTTTGC 0.388000 43 139 0 0 1 0 0 SCN4A 6329 broad.mit.edu 37 17 62038750 62038750 + Missense_Mutation SNP T T G TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr17:62038750T>G ENST00000578147.1 - 11 1724 c.1648A>C c.(1648-1650)Aag>Cag p.K550Q SCN4A_ENST00000435607.1_Missense_Mutation_p.K550Q P35499 SCN4A_HUMAN sodium channel, voltage-gated, type IV, alpha subunit 550 muscle contraction voltage-gated sodium channel complex voltage-gated sodium channel activity breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 101 Lamotrigine(DB00555) TGGGCGCACTTGTACCACCAT 0.582000 49 203 0 0 1 0 0 ZAN 7455 broad.mit.edu 37 7 100349913 100349913 + RNA SNP G G A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr7:100349913G>A ENST00000542585.1 + 0 2333 ZAN_ENST00000427578.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000546292.1_RNA NM_003386.1 NP_003377.1 Q9Y493 ZAN_HUMAN zonadhesin (gene/pseudogene) binding of sperm to zona pellucida|cell-cell adhesion integral to membrane|plasma membrane NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3) 139 Lung NSC(181;0.041)|all_lung(186;0.0581) STAD - Stomach adenocarcinoma(171;0.19) CATCCCCACAGAAAAATCCAC 0.522000 18 73 0 0 1 0 0 INPP5D 3635 broad.mit.edu 37 2 233990529 233990529 + Missense_Mutation SNP G G A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr2:233990529G>A ENST00000359570.5 + 4 424 c.424G>A c.(424-426)Gag>Aag p.E142K INPP5D_ENST00000474278.1_3'UTR|INPP5D_ENST00000538935.1_Missense_Mutation_p.E142K Q92835 SHIP1_HUMAN inositol polyphosphate-5-phosphatase, 145kDa 142 apoptosis|blood coagulation|leukocyte migration|T cell receptor signaling pathway cytosol inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|SH3 domain binding central_nervous_system(1)|ovary(1) 2 Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0273)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0843) Epithelial(121;1.16e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000479)|LUSC - Lung squamous cell carcinoma(224;0.00655)|Lung(119;0.00802)|GBM - Glioblastoma multiforme(43;0.0185) TGAGGCCAAGGAGGTTCCTTT 0.582000 4 30 0 0 1 0 0 SLC22A17 51310 broad.mit.edu 37 14 23817418 23817418 + Missense_Mutation SNP G G A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr14:23817418G>A ENST00000354772.3 - 6 1293 c.790C>T c.(790-792)Cgg>Tgg p.R264W SLC22A17_ENST00000474057.1_5'UTR|SLC22A17_ENST00000397267.1_Missense_Mutation_p.R264W|SLC22A17_ENST00000206544.8_Missense_Mutation_p.R264W|SLC22A17_ENST00000397260.3_Missense_Mutation_p.R153W NM_016609.3 NP_057693.3 Q8WUG5 S22AH_HUMAN solute carrier family 22, member 17 264 siderophore transport integral to organelle membrane|integral to plasma membrane|vacuolar membrane transmembrane receptor activity|transmembrane transporter activity breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 15 all_cancers(95;7.12e-06) GBM - Glioblastoma multiforme(265;0.00643) CCATGGGGCCGGTTTCGCTCA 0.612000 20 70 0 0 1 0 0 CDCP1 64866 broad.mit.edu 37 3 45127319 45127319 + Silent SNP G G A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr3:45127319G>A ENST00000296129.1 - 9 2456 c.2322C>T c.(2320-2322)ccC>ccT p.P774P NM_022842.3 NP_073753.3 Q9H5V8 CDCP1_HUMAN CUB domain containing protein 1 774 extracellular region|integral to membrane|plasma membrane p.P774P(1) central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|skin(4)|urinary_tract(1) 29 BRCA - Breast invasive adenocarcinoma(193;0.00928)|KIRC - Kidney renal clear cell carcinoma(197;0.0519)|Kidney(197;0.0651) TGGGTGGGGAGGGAGGACAGA 0.617000 27 86 0 0 1 0 0 GLRB 2743 broad.mit.edu 37 4 158065068 158065068 + Silent SNP C C T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr4:158065068C>T ENST00000264428.4 + 8 1131 c.861C>T c.(859-861)tcC>tcT p.S287S GLRB_ENST00000509282.1_Silent_p.S287S|GLRB_ENST00000512619.1_Intron|GLRB_ENST00000541722.1_Silent_p.S287S NM_000824.4 NP_000815.1 P48167 GLRB_HUMAN glycine receptor, beta 287 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) CCTGGCTTTCCTTCTGGATCA 0.507000 26 51 0 0 1 0 0 MPZL2 10205 broad.mit.edu 37 11 118130816 118130816 + Silent SNP C C T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr11:118130816C>T ENST00000278937.2 - 4 665 c.537G>A c.(535-537)cgG>cgA p.R179R MPZL2_ENST00000438295.2_Silent_p.R179R NM_005797.3 NP_005788.1 O60487 MPZL2_HUMAN myelin protein zero-like 2 179 anatomical structure morphogenesis|homophilic cell adhesion cytoskeleton|integral to membrane endometrium(1)|kidney(2)|large_intestine(5)|lung(2)|skin(1) 11 all_hematologic(175;0.046) Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234) BRCA - Breast invasive adenocarcinoma(274;3.04e-05) ATCGCTTTTTCCGGTAATGCT 0.478000 70 250 0 0 1 0 0 PARD3B 117583 broad.mit.edu 37 2 205990441 205990441 + Missense_Mutation SNP C C A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr2:205990441C>A ENST00000406610.2 + 10 1621 c.1414C>A c.(1414-1416)Cat>Aat p.H472N PARD3B_ENST00000351153.1_Missense_Mutation_p.H472N|PARD3B_ENST00000349953.3_Missense_Mutation_p.H472N|PARD3B_ENST00000462231.1_Missense_Mutation_p.H472N|PARD3B_ENST00000358768.2_Missense_Mutation_p.H472N NM_057177.6|NM_152526.5|NM_205863.3 NP_476518.4|NP_689739.4|NP_995585.2 Q8TEW8 PAR3L_HUMAN par-3 family cell polarity regulator beta 472 cell cycle|cell division endomembrane system|tight junction breast(1)|endometrium(9)|kidney(2)|large_intestine(6)|liver(4)|lung(33)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4) 65 all_cancers(1;2.88e-06)|all_epithelial(1;3.23e-06) Epithelial(149;0.0739) CCAAGAAGGACATTTTCTGCC 0.498000 33 101 2.42023e-17 2.48197e-17 1 1 0 DGKI 9162 broad.mit.edu 37 7 137269993 137269993 + Missense_Mutation SNP C C T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr7:137269993C>T ENST00000453654.1 - 14 1164 c.625G>A c.(625-627)Gac>Aac p.D209N DGKI_ENST00000288490.5_Missense_Mutation_p.D509N|DGKI_ENST00000446122.1_Missense_Mutation_p.D509N|DGKI_ENST00000424189.2_Missense_Mutation_p.D509N O75912 DGKI_HUMAN diacylglycerol kinase, iota 509 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation nucleus|plasma membrane ATP binding|diacylglycerol kinase activity|metal ion binding breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(46)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 84 GGAGGCAAGTCGGGGTTTCTT 0.478000 30 120 0 0 1 0 0 AGPAT1 10554 broad.mit.edu 37 6 32137789 32137789 + Silent SNP G G A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr6:32137789G>A ENST00000395499.1 - 6 1212 c.633C>T c.(631-633)tcC>tcT p.S211S AGPAT1_ENST00000490711.1_5'UTR|AGPAT1_ENST00000336984.6_Silent_p.S211S|AGPAT1_ENST00000375104.2_Silent_p.S211S|PPT2-EGFL8_ENST00000422437.1_Intron|AGPAT1_ENST00000395496.1_Silent_p.S211S|AGPAT1_ENST00000375107.3_Silent_p.S211S|AGPAT1_ENST00000395497.1_Silent_p.S211S|AGPAT1_ENST00000412465.2_Silent_p.S99S Q99943 PLCA_HUMAN 1-acylglycerol-3-phosphate O-acyltransferase 1 211 energy reserve metabolic process|phosphatidic acid biosynthetic process|positive regulation of cellular metabolic process|positive regulation of cytokine production|triglyceride biosynthetic process endoplasmic reticulum membrane|integral to membrane 1-acylglycerol-3-phosphate O-acyltransferase activity central_nervous_system(1)|large_intestine(3)|lung(6)|ovary(2) 12 CTTGGTAGGAGGACATGACTA 0.562000 10 51 0 0 1 0 0 SMARCA4 6597 broad.mit.edu 37 19 11132428 11132428 + Missense_Mutation SNP G G A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr19:11132428G>A ENST00000358026.2 + 19 2928 c.2644G>A c.(2644-2646)Gaa>Aaa p.E882K SMARCA4_ENST00000413806.3_Missense_Mutation_p.E882K|SMARCA4_ENST00000344626.4_Missense_Mutation_p.E882K|SMARCA4_ENST00000590574.1_Missense_Mutation_p.E882K|SMARCA4_ENST00000589677.1_Missense_Mutation_p.E882K|SMARCA4_ENST00000429416.3_Missense_Mutation_p.E882K|SMARCA4_ENST00000444061.3_Missense_Mutation_p.E882K|SMARCA4_ENST00000450717.3_Missense_Mutation_p.E882K|SMARCA4_ENST00000541122.2_Missense_Mutation_p.E882K NM_001128849.1 NP_001122321.1 P51532 SMCA4_HUMAN SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 882 Helicase ATP-binding. chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity p.?(1) adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 163 all_lung(6;0.0512)|Lung NSC(9;0.0568) GATTGTGGACGAAGGTCACCG 0.632000 """F, N, Mis""" NSCLC 10 15 0 0 1 0 0 SERPINI2 5276 broad.mit.edu 37 3 167170817 167170817 + Nonsense_Mutation SNP T T A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr3:167170817T>A ENST00000476257.1 - 7 1169 c.871A>T c.(871-873)Aaa>Taa p.K291* SERPINI2_ENST00000461846.1_Nonsense_Mutation_p.K291*|SERPINI2_ENST00000471111.1_Nonsense_Mutation_p.K291*|SERPINI2_ENST00000264677.4_Nonsense_Mutation_p.K291* O75830 SPI2_HUMAN serpin peptidase inhibitor, clade I (pancpin), member 2 291 cellular component movement|regulation of proteolysis extracellular region serine-type endopeptidase inhibitor activity NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(20)|prostate(1)|skin(5)|urinary_tract(1) 41 TGTTCTACTTTAAATCTGTTA 0.299000 6 25 0 0 1 0 0 ERMAP 114625 broad.mit.edu 37 1 43300731 43300731 + Silent SNP C C T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr1:43300731C>T ENST00000328249.3 + 2 1224 c.186C>T c.(184-186)tcC>tcT p.S62S RP11-342M1.4_ENST00000414798.1_RNA|ERMAP_ENST00000487556.1_3'UTR|ERMAP_ENST00000372514.3_Silent_p.S152S|ERMAP_ENST00000372517.2_Silent_p.S152S Q96PL5 ERMAP_HUMAN erythroblast membrane-associated protein (Scianna blood group) 152 Ig-like V-type. integral to membrane|plasma membrane breast(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1) 11 Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0333) GGAGTCTCTCCCCCTCAGCAG 0.537000 30 74 0 0 1 0 0 IGSF1 3547 broad.mit.edu 37 X 130410929 130410929 + Silent SNP C C T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chrX:130410929C>T ENST00000370904.1 - 20 3475 c.2565G>A c.(2563-2565)gtG>gtA p.V855V IGSF1_ENST00000467244.1_5'UTR|IGSF1_ENST00000370910.1_Silent_p.V855V|IGSF1_ENST00000370903.3_Silent_p.V869V|IGSF1_ENST00000361420.3_Silent_p.V864V Q8N6C5 IGSF1_HUMAN immunoglobulin superfamily, member 1 864 Ig-like C2-type 8. regulation of transcription, DNA-dependent extracellular region|integral to membrane inhibin beta-A binding|inhibin beta-B binding breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2) 78 CCACGAGCTCCACAGGGTCGC 0.537000 57 99 0 0 1 0 0 PPP1R1B 84152 broad.mit.edu 37 17 37786257 37786257 + Silent SNP G G A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr17:37786257G>A ENST00000254079.4 + 4 667 c.198G>A c.(196-198)tcG>tcA p.S66S PPP1R1B_ENST00000580825.1_Silent_p.S66S|PPP1R1B_ENST00000394265.1_Silent_p.S30S|PPP1R1B_ENST00000579000.1_Intron|PPP1R1B_ENST00000394267.2_Silent_p.S30S NM_032192.3 NP_115568.2 Q9UD71 PPR1B_HUMAN protein phosphatase 1, regulatory (inhibitor) subunit 1B 66 signal transduction cytosol protein kinase inhibitor activity|protein phosphatase inhibitor activity kidney(1)|large_intestine(1)|liver(1)|lung(2) 5 Lung NSC(9;1.15e-09)|all_lung(9;6.24e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052) UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|BRCA - Breast invasive adenocarcinoma(8;1.04e-44)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171) ATCTCAAGTCGAAGAGACCCA 0.597000 17 63 0 0 1 0 0 RP1 6101 broad.mit.edu 37 8 55538745 55538745 + Missense_Mutation SNP C C T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr8:55538745C>T ENST00000220676.1 + 4 2451 c.2303C>T c.(2302-2304)tCc>tTc p.S768F NM_006269.1 NP_006260.1 P56715 RP1_HUMAN retinitis pigmentosa 1 (autosomal dominant) 768 axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment microtubule binding p.S768F(1)|p.S768C(1) NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2) 169 all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123) OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285) ACTCAAAATTCCAAGGTTCAA 0.289000 27 41 0 0 1 0 0 NBEAL2 23218 broad.mit.edu 37 3 47039691 47039691 + Silent SNP C C T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr3:47039691C>T ENST00000450053.3 + 21 3272 c.3093C>T c.(3091-3093)acC>acT p.T1031T NBEAL2_ENST00000383740.2_5'UTR|NBEAL2_ENST00000292309.5_Silent_p.T1031T NM_015175.2 NP_055990.1 Q6ZNJ1 NBEL2_HUMAN neurobeachin-like 2 1031 binding NS(1)|breast(1)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(9)|lung(9)|ovary(4)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 51 Acute lymphoblastic leukemia(5;0.0534) BRCA - Breast invasive adenocarcinoma(193;0.0012)|KIRC - Kidney renal clear cell carcinoma(197;0.00575)|Kidney(197;0.00656) ACCTCTGGACCCTCAGTGACT 0.612000 6 19 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179542417 179542417 + Missense_Mutation SNP C C T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr2:179542417C>T ENST00000589042.1 - 146 34446 c.34222G>A c.(34222-34224)Gaa>Aaa p.E11408K TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.E11091K|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.E10164K|TTN-AS1_ENST00000592630.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 11091 Glu-rich.|Pro-rich. 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) AATTCTTCTTCCTCAGGTACA 0.448000 45 80 0 0 1 0 0 DCAF8L2 347442 broad.mit.edu 37 X 27766345 27766345 + Missense_Mutation SNP G G A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chrX:27766345G>A ENST00000451261.2 + 5 1732 c.1333G>A c.(1333-1335)Gat>Aat p.D445N NM_001136533.1 NP_001130005.1 DDB1 and CUL4 associated factor 8-like 2 central_nervous_system(1)|endometrium(9)|kidney(3)|lung(7)|pancreas(1)|skin(3) 24 CAATGATGACGATATTTACCT 0.423000 14 44 0 0 1 0 0 KDR 3791 broad.mit.edu 37 4 55953799 55953799 + Missense_Mutation SNP G G A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr4:55953799G>A ENST00000263923.4 - 27 3932 c.3637C>T c.(3637-3639)Cat>Tat p.H1213Y RP11-530I17.1_ENST00000511222.1_RNA NM_002253.2 NP_002244.1 P35968 VGFR2_HUMAN kinase insert domain receptor (a type III receptor tyrosine kinase) 1213 angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape integral to plasma membrane ATP binding|growth factor binding|Hsp90 protein binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 135 all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101) Epithelial(7;0.189) Sorafenib(DB00398)|Sunitinib(DB01268) TTGTCATAATGGAATTTGGGG 0.507000 Mis """NSCLC, angiosarcoma""" TSP Lung(20;0.16) 12 51 0 0 1 0 0 KIF1C 10749 broad.mit.edu 37 17 4927425 4927425 + Missense_Mutation SNP G G T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr17:4927425G>T ENST00000320785.5 + 23 3648 c.3291G>T c.(3289-3291)aaG>aaT p.K1097N NM_006612.5 NP_006603.2 O43896 KIF1C_HUMAN kinesin family member 1C 1097 microtubule-based movement|retrograde vesicle-mediated transport, Golgi to ER endoplasmic reticulum|Golgi apparatus|microtubule ATP binding|microtubule motor activity NS(2)|breast(4)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|skin(1)|urinary_tract(3) 30 CTGACCTCAAGGAGAGTGGGG 0.672000 21 69 3.08376e-08 3.14239e-08 1 1 0 PCDHGB6 56100 broad.mit.edu 37 5 140788545 140788545 + Missense_Mutation SNP C C T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr5:140788545C>T ENST00000520790.1 + 1 776 c.776C>T c.(775-777)tCc>tTc p.S259F PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGB1_ENST00000523390.1_Intron NM_018926.2|NM_032100.1 NP_061749.1|NP_115271.1 breast(2)|central_nervous_system(2)|endometrium(9)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2) 48 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CCCCCTGGGTCCCCTGTGTTG 0.468000 13 41 0 0 1 0 0 PTDSS2 81490 broad.mit.edu 37 11 489424 489424 + Silent SNP C C T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr11:489424C>T ENST00000308020.5 + 9 1055 c.879C>T c.(877-879)ttC>ttT p.F293F NM_030783.1 NP_110410.1 Q9BVG9 PTSS2_HUMAN phosphatidylserine synthase 2 293 integral to membrane autonomic_ganglia(1)|breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|skin(1) 9 all_cancers(49;1.59e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762) all cancers(45;2.76e-26)|Epithelial(43;2.56e-25)|OV - Ovarian serous cystadenocarcinoma(40;7.54e-20)|BRCA - Breast invasive adenocarcinoma(625;8.76e-05)|Lung(200;0.0407)|LUSC - Lung squamous cell carcinoma(625;0.0735) Phosphatidylserine(DB00144) GGATCGCCTTCCAGTTCACGC 0.652000 8 28 0 0 1 0 0 C22orf42 150297 broad.mit.edu 37 22 32550255 32550255 + Missense_Mutation SNP C C T rs143164067 TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr22:32550255C>T ENST00000382097.3 - 2 355 c.283G>A c.(283-285)Ggg>Agg p.G95R NM_001010859.1 NP_001010859.1 Q6IC83 CV042_HUMAN chromosome 22 open reading frame 42 95 NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(2) 24 GGCCAAATCCCGTGCCGTCTC 0.368000 33 106 0 0 1 0 0 CLPS 1208 broad.mit.edu 37 6 35765004 35765004 + Missense_Mutation SNP G G A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr6:35765004G>A ENST00000259938.2 - 1 84 c.62C>T c.(61-63)cCc>cTc p.P21L NM_001832.3 NP_001823.1 P04118 COL_HUMAN colipase, pancreatic 21 lipid catabolic process|lipid digestion|retinoid metabolic process|steroid metabolic process extracellular region large_intestine(2)|lung(2)|prostate(1) 5 GATCCCCCGGGGGCCAGGAGC 0.587000 17 115 0 0 1 0 0 SLC5A7 60482 broad.mit.edu 37 2 108609540 108609540 + Silent SNP G G A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr2:108609540G>A ENST00000264047.2 + 4 681 c.405G>A c.(403-405)ctG>ctA p.L135L SLC5A7_ENST00000540517.1_Silent_p.L30L|SLC5A7_ENST00000409059.1_Silent_p.L135L NM_021815.2 NP_068587.1 Q9GZV3 SC5A7_HUMAN solute carrier family 5 (sodium/choline cotransporter), member 7 135 acetylcholine biosynthetic process|neurotransmitter secretion integral to membrane|plasma membrane choline:sodium symporter activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2) 49 Choline(DB00122) TTCCTGCACTGATGGGAGAAA 0.443000 29 52 0 0 1 0 0 GABPA 2551 broad.mit.edu 37 21 27121396 27121396 + Missense_Mutation SNP C C G TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr21:27121396C>G ENST00000354828.3 + 4 799 c.272C>G c.(271-273)aCt>aGt p.T91S GABPA_ENST00000400075.3_Missense_Mutation_p.T91S|GABPA_ENST00000487266.1_3'UTR NM_001197297.1 NP_001184226.1 Q06546 GABPA_HUMAN GA binding protein transcription factor, alpha subunit 60kDa 91 positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter nucleus protein heterodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription regulatory region DNA binding breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(5)|ovary(2)|pancreas(1)|prostate(2)|skin(1) 24 ACAGATGGAACTGTACAGCTT 0.303000 13 46 0 0 1 0 0 TRDV1 28518 broad.mit.edu 37 14 22564750 22564750 + RNA SNP C C T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr14:22564750C>T ENST00000390452.2 + 0 219 AGATGATTTTCCTTATTCGCC 0.428000 32 87 0 0 1 0 0 NEB 4703 broad.mit.edu 37 2 152541388 152541388 + Silent SNP G G A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr2:152541388G>A ENST00000427231.2 - 28 2941 c.2739C>T c.(2737-2739)agC>agT p.S913S NEB_ENST00000603639.1_Silent_p.S913S|NEB_ENST00000172853.10_Silent_p.S913S|NEB_ENST00000397345.3_Silent_p.S913S|NEB_ENST00000604864.1_Silent_p.S913S|NEB_ENST00000409198.1_Silent_p.S913S NM_001164507.1 NP_001157979.1 P20929 NEBU_HUMAN nebulin 913 muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development actin cytoskeleton|cytosol|Z disc actin binding|structural constituent of muscle NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2) 301 BRCA - Breast invasive adenocarcinoma(221;0.219) AATCAACGTCGCTGGCAATTG 0.443000 6 34 0 0 1 0 0 PKD1L1 168507 broad.mit.edu 37 7 47970731 47970731 + Missense_Mutation SNP G G A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr7:47970731G>A ENST00000289672.2 - 6 757 c.707C>T c.(706-708)cCg>cTg p.P236L NM_138295.3 NP_612152.1 Q8TDX9 PK1L1_HUMAN polycystic kidney disease 1 like 1 236 cell-cell adhesion integral to membrane BBS9/PKD1L1(2) NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5) 142 ATGTGAAATCGGCCACAGGGG 0.597000 9 41 0 0 1 0 0 NUTM1 256646 broad.mit.edu 37 15 34649228 34649228 + Missense_Mutation SNP A A G TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr15:34649228A>G ENST00000537011.1 + 8 3401 c.3019A>G c.(3019-3021)Acc>Gcc p.T1007A NUTM1_ENST00000438749.3_Missense_Mutation_p.T997A|NUTM1_ENST00000333756.4_Missense_Mutation_p.T979A NUT midline carcinoma, family member 1 TAGAAGGGGAACCAGGAATGC 0.478000 15 31 0 0 1 0 0 ATP1A3 478 broad.mit.edu 37 19 42471468 42471468 + Silent SNP G G A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr19:42471468G>A ENST00000545399.1 - 22 3138 c.2985C>T c.(2983-2985)ttC>ttT p.F995F ATP1A3_ENST00000302102.5_Silent_p.F982F|ATP1A3_ENST00000602133.1_Silent_p.F952F|ATP1A3_ENST00000543770.1_Silent_p.F993F NM_001256214.1 NP_001243143.1 P13637 AT1A3_HUMAN ATPase, Na+/K+ transporting, alpha 3 polypeptide 982 ATP biosynthetic process endoplasmic reticulum|Golgi apparatus ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(19)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1) 52 AACTGTAGGGGAAGGCACAGA 0.637000 17 25 0 0 1 0 0 CDKL4 344387 broad.mit.edu 37 2 39431685 39431685 + Missense_Mutation SNP C C T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr2:39431685C>T ENST00000378803.1 - 4 436 c.437G>A c.(436-438)gGg>gAg p.G146E CDKL4_ENST00000395035.3_Missense_Mutation_p.G146E NM_001009565.1 NP_001009565.1 Q5MAI5 CDKL4_HUMAN cyclin-dependent kinase-like 4 146 Protein kinase. cytoplasm ATP binding|cyclin-dependent protein kinase activity breast(1)|large_intestine(2)|liver(1)|lung(7)|ovary(1) 12 all_hematologic(82;0.248) TTGTGCAAACCCGAAGTCACA 0.279000 8 36 0 0 1 0 0 PKHD1L1 93035 broad.mit.edu 37 8 110420353 110420353 + Missense_Mutation SNP G G A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr8:110420353G>A ENST00000378402.5 + 18 1993 c.1889G>A c.(1888-1890)gGa>gAa p.G630E NM_177531.4 NP_803875.2 Q86WI1 PKHL1_HUMAN polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 630 immune response cytosol|extracellular space|integral to membrane receptor activity NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4) 263 OV - Ovarian serous cystadenocarcinoma(57;9.88e-13) CAAACCAAAGGAAAACCCAAC 0.403000 HNSCC(38;0.096) 18 55 0 0 1 0 0 PRSS55 203074 broad.mit.edu 37 8 10396060 10396060 + Nonsense_Mutation SNP G G A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr8:10396060G>A ENST00000328655.3 + 5 856 c.816G>A c.(814-816)tgG>tgA p.W272* PRSS55_ENST00000522210.1_Intron|PRSS51_ENST00000523024.1_RNA NM_198464.3 NP_940866.2 Q6UWB4 PRS55_HUMAN protease, serine, 55 272 Peptidase S1. proteolysis integral to membrane serine-type endopeptidase activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|skin(1) 31 TCATAAGCTGGGGAAAGAGCT 0.577000 20 80 0 0 1 0 0 PRKCB 5579 broad.mit.edu 37 16 24105562 24105562 + Silent SNP C C T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr16:24105562C>T ENST00000303531.7 + 7 917 c.765C>T c.(763-765)ttC>ttT p.F255F PRKCB_ENST00000321728.7_Silent_p.F255F|PRKCB_ENST00000482000.1_3'UTR NM_002738.6 NP_002729.2 P05771 KPCB_HUMAN protein kinase C, beta 255 C2. apoptosis|B cell activation|B cell receptor signaling pathway|intracellular signal transduction|lipoprotein transport|platelet activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|synaptic transmission|transcription, DNA-dependent cytosol|nucleus|plasma membrane androgen receptor binding|ATP binding|chromatin binding|histone binding|histone kinase activity (H3-T6 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding|zinc ion binding central_nervous_system(3)|large_intestine(1)|lung(2)|ovary(3) 9 Vitamin E(DB00163) GGAATGACTTCATGGGATCTT 0.423000 24 87 0 0 1 0 0 RMND1 55005 broad.mit.edu 37 6 151766735 151766735 + Missense_Mutation SNP T T C TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr6:151766735T>C ENST00000367303.4 - 2 334 c.212A>G c.(211-213)aAc>aGc p.N71S RMND1_ENST00000491268.1_5'UTR NM_017909.2 NP_060379.2 Q9NWS8 RMND1_HUMAN required for meiotic nuclear division 1 homolog (S. cerevisiae) 71 central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 12 Ovarian(120;0.125) BRCA - Breast invasive adenocarcinoma(37;0.146) OV - Ovarian serous cystadenocarcinoma(155;6.8e-11) CTTTTTTTGGTTCATTTCCAG 0.413000 67 164 0 0 1 0 0 POLL 27343 broad.mit.edu 37 10 103340153 103340153 + Silent SNP G G A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr10:103340153G>A ENST00000370162.3 - 8 1709 c.1215C>T c.(1213-1215)gcC>gcT p.A405A POLL_ENST00000299206.4_Silent_p.A405A|POLL_ENST00000370158.3_Silent_p.A130A|POLL_ENST00000370172.1_Silent_p.A317A|DPCD_ENST00000470165.1_Intron|POLL_ENST00000456836.2_Silent_p.A142A|POLL_ENST00000463515.1_5'UTR|DPCD_ENST00000416979.2_Intron|POLL_ENST00000370169.1_Silent_p.A405A|POLL_ENST00000339310.3_Silent_p.A128A|POLL_ENST00000370168.3_Silent_p.A78A NM_001174084.1|NM_001174085.1|NM_013274.3 NP_001167555.1|NP_001167556.1|NP_037406.1 Q9UGP5 DPOLL_HUMAN polymerase (DNA directed), lambda 405 DNA replication|nucleotide-excision repair|somatic hypermutation of immunoglobulin genes nucleus DNA binding|DNA-directed DNA polymerase activity|lyase activity|metal ion binding biliary_tract(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|lung(7)|upper_aerodigestive_tract(2) 19 Colorectal(252;0.234) Epithelial(162;1.55e-08)|all cancers(201;6.64e-07) CAGAGTTAAAGGCCTGGGCTG 0.607000 DNA polymerases (catalytic subunits) 11 53 0 0 1 0 0 ANKRD24 170961 broad.mit.edu 37 19 4219687 4219687 + Missense_Mutation SNP G G A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr19:4219687G>A ENST00000600132.1 + 19 3379 c.3103G>A c.(3103-3105)Gaa>Aaa p.E1035K ANKRD24_ENST00000262970.5_Missense_Mutation_p.E1125K|ANKRD24_ENST00000318934.4_Missense_Mutation_p.E1035K NM_133475.1 NP_597732.1 Q8TF21 ANR24_HUMAN ankyrin repeat domain 24 1035 endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1) 21 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0233)|STAD - Stomach adenocarcinoma(1328;0.181) GACCGAGGCGGAAAGGGCTCG 0.667000 15 58 0 0 1 0 0 EVX2 344191 broad.mit.edu 37 2 176948377 176948377 + Missense_Mutation SNP G G A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr2:176948377G>A ENST00000308618.4 - 1 264 c.128C>T c.(127-129)tCg>tTg p.S43L NM_001080458.1 NP_001073927.1 Q03828 EVX2_HUMAN even-skipped homeobox 2 43 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) CGGGTGCTGCGAATTTTCCAG 0.602000 9 70 0 0 1 0 0 RPL6 6128 broad.mit.edu 37 12 112846062 112846062 + Silent SNP C C T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr12:112846062C>T ENST00000424576.2 - 3 503 c.318G>A c.(316-318)gtG>gtA p.V106V RPL6_ENST00000202773.9_Silent_p.V106V NM_001024662.1 NP_001019833.1 Q02878 RL6_HUMAN ribosomal protein L6 106 endocrine pancreas development|regulation of transcription, DNA-dependent|translational elongation|translational termination|viral transcription cytosolic large ribosomal subunit DNA binding|RNA binding|structural constituent of ribosome cervix(1)|large_intestine(6)|lung(3) 10 GAAGTTTAACCACCCGGGTAC 0.393000 13 68 0 0 1 0 0 SPATA31D1 389763 broad.mit.edu 37 9 84609948 84609948 + Silent SNP G G A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr9:84609948G>A ENST00000344803.2 + 4 4610 c.4563G>A c.(4561-4563)agG>agA p.R1521R NM_001001670.2 NP_001001670.1 SPATA31 subfamily D, member 1 TGCCCCACAGGAAGCCTGTGC 0.537000 5 25 0 0 1 0 0 NAALAD2 10003 broad.mit.edu 37 11 89885593 89885593 + Missense_Mutation SNP G G A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr11:89885593G>A ENST00000534061.1 + 6 967 c.737G>A c.(736-738)gGa>gAa p.G246E NAALAD2_ENST00000375944.3_Missense_Mutation_p.G246E|NAALAD2_ENST00000321955.4_Missense_Mutation_p.G246E|NAALAD2_ENST00000525171.1_Missense_Mutation_p.G246E NM_005467.3 NP_005458.1 Q9Y3Q0 NALD2_HUMAN N-acetylated alpha-linked acidic dipeptidase 2 246 proteolysis integral to membrane carboxypeptidase activity|dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity|serine-type peptidase activity NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(32)|pancreas(1)|prostate(3)|skin(5)|stomach(2) 59 Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556) GCCCAGAGAGGAAATGTGTTA 0.453000 14 50 0 0 1 0 0 MAPK6 5597 broad.mit.edu 37 15 52356226 52356226 + Nonsense_Mutation SNP C C T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr15:52356226C>T ENST00000261845.5 + 6 2002 c.1195C>T c.(1195-1197)Cga>Tga p.R399* CTD-2184D3.5_ENST00000558607.1_RNA NM_002748.3 NP_002739.1 Q16659 MK06_HUMAN mitogen-activated protein kinase 6 399 cell cycle ATP binding|MAP kinase activity breast(3)|endometrium(1)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|skin(2) 20 all cancers(107;0.0028) AGTTGATCCCCGAAAATATTT 0.408000 30 74 0 0 1 0 0 CNGB3 54714 broad.mit.edu 37 8 87680300 87680300 + Nonsense_Mutation SNP A A C TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr8:87680300A>C ENST00000320005.5 - 5 637 c.590T>G c.(589-591)tTa>tGa p.L197* NM_019098.4 NP_061971.3 Q9NQW8 CNGB3_HUMAN cyclic nucleotide gated channel beta 3 197 signal transduction|visual perception integral to membrane cGMP binding NS(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(15)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 80 GTACTCTGTTAAAGGCATCTT 0.413000 82 121 0 0 1 0 0 FBXW10 10517 broad.mit.edu 37 17 18675954 18675954 + Missense_Mutation SNP C C T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr17:18675954C>T ENST00000308799.4 + 11 2542 c.2323C>T c.(2323-2325)Ccc>Tcc p.P775S FBXW10_ENST00000395665.4_Missense_Mutation_p.P746S|FBXW10_ENST00000395667.1_Missense_Mutation_p.P746S|FBXW10_ENST00000301938.4_Missense_Mutation_p.P693S Q5XX13 FBW10_HUMAN F-box and WD repeat domain containing 10 746 NS(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1) 42 AGGCAAACCTCCCAAGTCCCG 0.468000 45 161 0 0 1 0 0 KDM1A 23028 broad.mit.edu 37 1 23381648 23381648 + Silent SNP C C T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr1:23381648C>T ENST00000400181.4 + 6 981 c.877C>T c.(877-879)Cta>Tta p.L293L KDM1A_ENST00000542151.1_Silent_p.L293L|RP1-184J9.2_ENST00000427154.1_RNA|KDM1A_ENST00000356634.3_Silent_p.L273L NM_001009999.2 NP_001009999.1 O60341 KDM1A_HUMAN lysine (K)-specific demethylase 1A 273 blood coagulation|muscle cell development|negative regulation of apoptosis|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of protein binding|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nuclear chromatin androgen receptor binding|chromatin binding|enzyme binding|flavin adenine dinucleotide binding|histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-K9 specific)|ligand-dependent nuclear receptor transcription coactivator activity|MyoD binding|oxidoreductase activity|p53 binding|transcription regulatory region DNA binding breast(2)|central_nervous_system(2)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 23 GATAAAACCCCTACCAAGTAA 0.373000 80 100 0 0 1 0 0 PLA2G12B 84647 broad.mit.edu 37 10 74700940 74700940 + Silent SNP G G A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr10:74700940G>A ENST00000373032.3 - 3 545 c.453C>T c.(451-453)gtC>gtT p.V151V NM_032562.2 NP_115951.2 Q9BX93 PG12B_HUMAN phospholipase A2, group XIIB 151 lipid catabolic process extracellular region calcium ion binding|phospholipase A2 activity breast(1)|endometrium(1)|large_intestine(1)|lung(2)|ovary(2)|skin(2) 9 Prostate(51;0.0198) CCACTTTGGAGACAAAGCCCA 0.498000 29 90 0 0 1 0 0 SLC8A1 6546 broad.mit.edu 37 2 40656791 40656791 + Nonsense_Mutation SNP C C T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr2:40656791C>T ENST00000406785.1 - 2 819 c.630G>A c.(628-630)tgG>tgA p.W210* SLC8A1_ENST00000332839.4_Nonsense_Mutation_p.W210*|SLC8A1_ENST00000408028.2_Nonsense_Mutation_p.W210*|SLC8A1_ENST00000405901.3_Nonsense_Mutation_p.W210*|SLC8A1_ENST00000405269.1_Nonsense_Mutation_p.W210*|SLC8A1_ENST00000403092.1_Nonsense_Mutation_p.W210*|SLC8A1_ENST00000402441.1_Nonsense_Mutation_p.W210*|SLC8A1_ENST00000542756.1_Nonsense_Mutation_p.W210*|SLC8A1_ENST00000542024.1_Nonsense_Mutation_p.W210*|SLC8A1_ENST00000406391.2_Nonsense_Mutation_p.W210* P32418 NAC1_HUMAN solute carrier family 8 (sodium/calcium exchanger), member 1 210 cell communication|muscle contraction|platelet activation integral to plasma membrane calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2) 100 Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159) CAAAGATGCTCCAGGCTGCTG 0.433000 11 45 0 0 1 0 0 PDE8A 5151 broad.mit.edu 37 15 85666319 85666319 + Silent SNP G G T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr15:85666319G>T ENST00000310298.4 + 20 2232 c.1980G>T c.(1978-1980)ggG>ggT p.G660G PDE8A_ENST00000394553.1_Silent_p.G660G|PDE8A_ENST00000339708.5_Silent_p.G614G|PDE8A_ENST00000557957.1_Silent_p.G588G O60658 PDE8A_HUMAN phosphodiesterase 8A 660 Catalytic (By similarity). cyclic nucleotide metabolic process|regulation of transcription, DNA-dependent cytosol 3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|two-component response regulator activity NS(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(2) 25 Colorectal(223;0.227) BRCA - Breast invasive adenocarcinoma(143;0.0608) TGCGCCAGGGGATTATCGACA 0.423000 16 76 1.5739e-10 1.60585e-10 1 1 0 PDLIM4 8572 broad.mit.edu 37 5 131607149 131607149 + Silent SNP C C T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr5:131607149C>T ENST00000253754.3 + 5 724 c.660C>T c.(658-660)gcC>gcT p.A220A P4HA2_ENST00000471826.1_Intron|PDLIM4_ENST00000379018.3_Silent_p.A220A|PDLIM4_ENST00000484620.1_3'UTR NM_001131027.1|NM_003687.3 NP_001124499.1|NP_003678.2 P50479 PDLI4_HUMAN PDZ and LIM domain 4 220 protein binding|zinc ion binding central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(2)|urinary_tract(1) 10 KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) TGCTAGAGGCCGGCGAGGGCG 0.692000 11 25 0 0 1 0 0 C1orf65 164127 broad.mit.edu 37 1 223567300 223567300 + Silent SNP C C T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr1:223567300C>T ENST00000366875.3 + 1 586 c.483C>T c.(481-483)ttC>ttT p.F161F NM_152610.2 NP_689823.2 Q8N715 CA065_HUMAN chromosome 1 open reading frame 65 161 breast(4)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|skin(3) 29 GBM - Glioblastoma multiforme(131;0.0704) GTGGCACATTCAGGGTAGAAA 0.667000 13 11 0 0 1 0 0 COL5A3 50509 broad.mit.edu 37 19 10079068 10079068 + Missense_Mutation SNP C C T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr19:10079068C>T ENST00000264828.3 - 59 4392 c.4307G>A c.(4306-4308)gGa>gAa p.G1436E NM_015719.3 NP_056534.2 P25940 CO5A3_HUMAN collagen, type V, alpha 3 1436 Triple-helical region. collagen fibril organization|skin development collagen type V collagen binding|extracellular matrix structural constituent NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 116 Epithelial(33;7.11e-05) CACAGGGTCTCCCTTGGGACC 0.607000 40 145 0 0 1 0 0 MB 4151 broad.mit.edu 37 22 36003385 36003385 + Missense_Mutation SNP C C T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr22:36003385C>T ENST00000397326.2 - 3 622 c.424G>A c.(424-426)Gac>Aac p.D142N MB_ENST00000359787.1_Missense_Mutation_p.D142N|MB_ENST00000397328.1_Missense_Mutation_p.D142N|MB_ENST00000401702.1_Missense_Mutation_p.D87N|MB_ENST00000406324.1_Missense_Mutation_p.D142N NM_005368.2 NP_005359.1 P02144 MYG_HUMAN myoglobin 142 heme binding|oxygen transporter activity lung(1) 1 GAGGCCATGTCCTTCCGGAAC 0.637000 7 39 0 0 1 0 0 TBC1D9 23158 broad.mit.edu 37 4 141544026 141544026 + Missense_Mutation SNP C C T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr4:141544026C>T ENST00000442267.2 - 21 3198 c.3124G>A c.(3124-3126)Gaa>Aaa p.E1042K NM_015130.2 NP_055945.2 Q6ZT07 TBCD9_HUMAN TBC1 domain family, member 9 (with GRAM domain) 1042 intracellular calcium ion binding|Rab GTPase activator activity endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1) 31 all_hematologic(180;0.162) Medulloblastoma(177;0.00498) TTGGGGTCTTCGCTGAACATG 0.527000 4 8 0 0 1 0 0 NMS 129521 broad.mit.edu 37 2 101097591 101097591 + Missense_Mutation SNP C C T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr2:101097591C>T ENST00000376865.1 + 8 383 c.376C>T c.(376-378)Cac>Tac p.H126Y NM_001011717.1 NP_001011717.1 Q5H8A3 NMS_HUMAN neuromedin S 126 neuropeptide signaling pathway|regulation of smooth muscle contraction extracellular region breast(1)|large_intestine(4)|lung(7)|ovary(1)|stomach(1) 14 GTTGCAGGATCACACTGCGAC 0.423000 34 115 0 0 1 0 0 C15orf27 123591 broad.mit.edu 37 15 76430089 76430089 + Missense_Mutation SNP C C T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr15:76430089C>T ENST00000388942.3 + 3 356 c.80C>T c.(79-81)tCc>tTc p.S27F NM_152335.2 NP_689548.2 Q2M3C6 CO027_HUMAN chromosome 15 open reading frame 27 27 integral to membrane endometrium(1)|large_intestine(1)|lung(10)|pancreas(1) 13 GAGATCATCTCCCAACAAGTA 0.502000 33 113 0 0 1 0 0 ROM1 6094 broad.mit.edu 37 11 62381081 62381081 + Missense_Mutation SNP G G A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr11:62381081G>A ENST00000278833.3 + 1 869 c.328G>A c.(328-330)Ggt>Agt p.G110S ROM1_ENST00000534093.1_Intron NM_000327.3 NP_000318.1 Q03395 ROM1_HUMAN retinal outer segment membrane protein 1 110 cell adhesion|visual perception integral to plasma membrane central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(2)|ovary(1)|skin(1) 8 TGGCACGGCTGGTGGGGGGGG 0.682000 13 18 0 0 1 0 0 SCAND3 114821 broad.mit.edu 37 6 28541494 28541494 + Silent SNP C C T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr6:28541494C>T ENST00000452236.2 - 4 2789 c.2172G>A c.(2170-2172)ggG>ggA p.G724G NM_052923.1 NP_443155.1 Q6R2W3 SCND3_HUMAN SCAN domain containing 3 724 DNA integration|viral reproduction nucleus DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3) 71 ttttggttttcccttcttcag 0.338000 13 27 0 0 1 0 0 HFE2 148738 broad.mit.edu 37 1 145415587 145415587 + Missense_Mutation SNP C C T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr1:145415587C>T ENST00000336751.5 + 3 644 c.406C>T c.(406-408)Cca>Tca p.P136S HFE2_ENST00000497365.1_Intron|HFE2_ENST00000475797.1_Intron|HFE2_ENST00000357836.5_Missense_Mutation_p.P23S NM_213653.3 NP_998818.1 Q6ZVN8 RGMC_HUMAN hemochromatosis type 2 (juvenile) 136 axon guidance anchored to membrane central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1) 14 all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786) ccccgcccTTCCAGGCGCGGG 0.682000 11 18 0 0 1 0 0 CLCN1 1180 broad.mit.edu 37 7 143028643 143028643 + Splice_Site SNP G G A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr7:143028643G>A ENST00000343257.2 + 10 1151 c.e10-1 NM_000083.2 NP_000074.2 P35523 CLCN1_HUMAN chloride channel, voltage-sensitive 1 muscle contraction chloride channel complex|integral to plasma membrane voltage-gated chloride channel activity breast(4)|central_nervous_system(1)|endometrium(1)|large_intestine(11)|lung(26)|ovary(3)|prostate(2)|skin(7)|stomach(1)|upper_aerodigestive_tract(2) 58 Melanoma(164;0.205) TACACCCTCAGGATTTGCTGT 0.473000 15 63 0 0 1 0 0 STOX2 56977 broad.mit.edu 37 4 184931511 184931511 + Missense_Mutation SNP G G A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr4:184931511G>A ENST00000308497.4 + 3 2955 c.1520G>A c.(1519-1521)gGg>gAg p.G507E STOX2_ENST00000438269.1_Missense_Mutation_p.G507E NM_020225.1 NP_064610.1 Q9P2F5 STOX2_HUMAN storkhead box 2 507 embryo development|maternal placenta development breast(1)|endometrium(7)|lung(6) 14 all_lung(41;1.89e-12)|Lung NSC(41;3.48e-12)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|all_hematologic(60;0.027)|Prostate(90;0.0283) all cancers(43;2.85e-26)|Epithelial(43;2.27e-22)|OV - Ovarian serous cystadenocarcinoma(60;3.4e-10)|Colorectal(24;8.23e-06)|GBM - Glioblastoma multiforme(59;1.64e-05)|STAD - Stomach adenocarcinoma(60;3.6e-05)|COAD - Colon adenocarcinoma(29;4.37e-05)|LUSC - Lung squamous cell carcinoma(40;0.008)|READ - Rectum adenocarcinoma(43;0.227) TCTTCTCTAGGGACGCCGGAA 0.547000 4 15 0 0 1 0 0 PCDHGB3 56102 broad.mit.edu 37 5 140751397 140751397 + Missense_Mutation SNP C C T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr5:140751397C>T ENST00000576222.1 + 1 1567 c.1436C>T c.(1435-1437)cCc>cTc p.P479L PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB1_ENST00000523390.1_Intron NM_018924.2|NM_032097.1 NP_061747.1|NP_115268.1 endometrium(1)|kidney(1)|lung(3) 5 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GCCTCGGATCCCGACTTGGGA 0.612000 24 111 0 0 1 0 0 ADCY1 107 broad.mit.edu 37 7 45697426 45697426 + Missense_Mutation SNP G G A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr7:45697426G>A ENST00000297323.7 + 6 1271 c.1249G>A c.(1249-1251)Gac>Aac p.D417N ADCY1_ENST00000432715.1_Missense_Mutation_p.D192N NM_021116.2 NP_066939.1 Q08828 ADCY1_HUMAN adenylate cyclase 1 (brain) 417 activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport integral to membrane|plasma membrane ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|calmodulin binding|metal ion binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(33)|ovary(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(1) 71 Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)|Adenosine(DB00640) GTGGCAGTACGACGTGTGGTC 0.617000 8 23 0 0 1 0 0 ATP5O 539 broad.mit.edu 37 21 35281407 35281407 + Missense_Mutation SNP G G T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr21:35281407G>T ENST00000290299.2 - 4 523 c.307C>A c.(307-309)Ccc>Acc p.P103T AP000304.12_ENST00000429238.1_Missense_Mutation_p.S51Y NM_001697.2 NP_001688.1 ATP synthase, H+ transporting, mitochondrial F1 complex, O subunit large_intestine(2)|lung(1)|ovary(1)|urinary_tract(1) 5 GTAGTGAGGGGAGAGAACCTC 0.433000 19 81 8.34094e-07 8.43536e-07 1 1 0 RILP 83547 broad.mit.edu 37 17 1552937 1552937 + Silent SNP C C T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr17:1552937C>T ENST00000301336.6 - 1 434 c.162G>A c.(160-162)ctG>ctA p.L54L NM_031430.2 NP_113618.2 Q96NA2 RILP_HUMAN Rab interacting lysosomal protein 54 endosome to lysosome transport|protein transport late endosome membrane|lysosomal membrane|phagocytic vesicle membrane Rab GTPase binding endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(4) 15 UCEC - Uterine corpus endometrioid carcinoma (25;0.0822) CTAGCGGCACCAGCCCGGCCG 0.736000 2 8 0 0 1 0 0 RWDD4 201965 broad.mit.edu 37 4 184562617 184562617 + Missense_Mutation SNP C C T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr4:184562617C>T ENST00000326397.5 - 8 811 c.539G>A c.(538-540)aGc>aAc p.S180N RWDD4_ENST00000327570.9_Missense_Mutation_p.S179N|RWDD4_ENST00000510968.1_Missense_Mutation_p.S85N|RWDD4_ENST00000512740.1_Missense_Mutation_p.S117N NM_152682.2 NP_689895.2 Q6NW29 RWDD4_HUMAN RWD domain containing 4 180 large_intestine(2)|lung(4)|ovary(1)|prostate(1) 8 GCCAGTTTTGCTTAACTATAA 0.328000 25 105 0 0 1 0 0 IL1A 3552 broad.mit.edu 37 2 113537239 113537239 + Silent SNP G G A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr2:113537239G>A ENST00000263339.3 - 5 479 c.324C>T c.(322-324)atC>atT p.I108I NM_000575.3 NP_000566.3 P01583 IL1A_HUMAN interleukin 1, alpha 108 anti-apoptosis|apoptosis|cell proliferation|cellular response to heat|cytokine-mediated signaling pathway|fever generation|immune response|negative regulation of cell proliferation|positive regulation of angiogenesis|positive regulation of cell division|positive regulation of cytokine secretion|positive regulation of interleukin-2 biosynthetic process|positive regulation of mitosis|positive regulation vascular endothelial growth factor production|response to copper ion cytosol|extracellular space copper ion binding|cytokine activity|interleukin-1 receptor binding breast(2)|large_intestine(1)|lung(9) 12 TAGGCTTGATGATTTCTAAAA 0.388000 22 86 0 0 1 0 0 APOBEC3F 200316 broad.mit.edu 37 22 39439055 39439055 + Missense_Mutation SNP C C T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr22:39439055C>T ENST00000308521.5 + 2 488 c.131C>T c.(130-132)cCc>cTc p.P44L APOBEC3G_ENST00000452957.2_Intron|APOBEC3F_ENST00000381565.2_Missense_Mutation_p.P44L|APOBEC3F_ENST00000491387.1_3'UTR NM_145298.5 NP_660341.2 Q9HC16 ABC3G_HUMAN apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3F 44 base conversion or substitution editing|DNA cytosine deamination|innate immune response|interspecies interaction between organisms|negative regulation of retroviral genome replication|negative regulation of transposition|positive regulation of defense response to virus by host|response to virus|viral reproduction apolipoprotein B mRNA editing enzyme complex|cytosol|mitochondrion cytidine deaminase activity|dCTP deaminase activity|protein homodimerization activity|RNA binding|zinc ion binding breast(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|skin(2) 16 Melanoma(58;0.04) ACAAAGGGTCCCTCAAGGCCC 0.502000 19 41 0 0 1 0 0 MTMR7 9108 broad.mit.edu 37 8 17218782 17218782 + Splice_Site SNP C C T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr8:17218782C>T ENST00000180173.5 - 4 346 c.310_splice c.e4-1 p.V104_splice MTMR7_ENST00000521857.1_Splice_Site_p.V104_splice NM_004686.4 NP_004677.3 Q9Y216 MTMR7_HUMAN myotubularin related protein 7 104 protein tyrosine phosphatase activity breast(1)|endometrium(5)|kidney(2)|large_intestine(5)|liver(1)|lung(8)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1) 32 Colorectal(111;0.112) CCTCATATTTCACTGCAAGAA 0.443000 37 72 0 0 1 0 0 CCDC144A 9720 broad.mit.edu 37 17 16593955 16593955 + Missense_Mutation SNP C C T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr17:16593955C>T ENST00000443444.2 + 1 381 c.241C>T c.(241-243)Ctt>Ttt p.L81F CCDC144A_ENST00000340621.5_Missense_Mutation_p.L81F|CCDC144A_ENST00000399273.1_Missense_Mutation_p.L81F|RP11-219A15.1_ENST00000448331.3_Missense_Mutation_p.L81F|CCDC144A_ENST00000436374.1_3'UTR|CCDC144A_ENST00000360524.8_Missense_Mutation_p.L81F|CCDC144A_ENST00000456009.1_Missense_Mutation_p.L81F A2RUR9 C144A_HUMAN coiled-coil domain containing 144A 81 CCTGGAAGATCTTGGCGAGCT 0.632000 47 161 0 0 1 0 0 CCT7 10574 broad.mit.edu 37 2 73466833 73466833 + Silent SNP G G T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr2:73466833G>T ENST00000258091.5 + 2 210 c.69G>T c.(67-69)gtG>gtT p.V23V CCT7_ENST00000473786.1_Intron|CCT7_ENST00000538797.1_5'UTR|CCT7_ENST00000537131.1_5'UTR|CCT7_ENST00000398422.2_Intron|CCT7_ENST00000540468.1_Intron|CCT7_ENST00000539919.1_5'UTR NM_006429.3 NP_006420.1 Q99832 TCPH_HUMAN chaperonin containing TCP1, subunit 7 (eta) 23 'de novo' posttranslational protein folding ATP binding|unfolded protein binding breast(1)|cervix(1)|endometrium(1)|lung(3)|stomach(1) 7 CCCAGCTTGTGAGTAACATCA 0.468000 7 32 0.000157383 0.000158368 1 1 0 TNRC18 84629 broad.mit.edu 37 7 5430119 5430119 + Missense_Mutation SNP C C T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr7:5430119C>T ENST00000399537.4 - 4 832 c.484G>A c.(484-486)Gga>Aga p.G162R TNRC18_ENST00000430969.1_Missense_Mutation_p.G162R|TNRC18_ENST00000399434.2_Missense_Mutation_p.G88R O15417 TNC18_HUMAN trinucleotide repeat containing 18 162 DNA binding central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8) 11 Ovarian(82;0.142) UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15) GTCTTACCTCCTCCTGGCCCC 0.652000 6 23 0 0 1 0 0 BCORL1 63035 broad.mit.edu 37 X 129149233 129149233 + Silent SNP C C T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chrX:129149233C>T ENST00000540052.1 + 3 2529 c.2485C>T c.(2485-2487)Ctg>Ttg p.L829L BCORL1_ENST00000359304.2_Silent_p.L829L|BCORL1_ENST00000303743.5_Silent_p.L829L|BCORL1_ENST00000218147.7_Silent_p.L829L NM_021946.4 NP_068765.3 Q5H9F3 BCORL_HUMAN BCL6 corepressor-like 1 829 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(3)|lung(30)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 75 CACCCAGGTCCTGCCTGTTGG 0.602000 26 81 0 0 1 0 0 SV2B 9899 broad.mit.edu 37 15 91769606 91769606 + Missense_Mutation SNP G G A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr15:91769606G>A ENST00000394232.1 + 2 583 c.113G>A c.(112-114)gGc>gAc p.G38D SV2B_ENST00000330276.4_Missense_Mutation_p.G38D|SV2B_ENST00000545111.2_Intron|SV2B_ENST00000557291.1_Intron NM_014848.4 NP_055663.1 Q7L1I2 SV2B_HUMAN synaptic vesicle glycoprotein 2B 38 neurotransmitter transport acrosomal vesicle|cell junction|integral to membrane|synaptic vesicle membrane transmembrane transporter activity NS(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(17)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 42 Lung NSC(78;0.0987)|all_lung(78;0.172) BRCA - Breast invasive adenocarcinoma(143;0.0895) GTCACCGAAGGCCATGATGAG 0.532000 14 58 0 0 1 0 0 CSMD2 114784 broad.mit.edu 37 1 34401533 34401533 + Silent SNP C C T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr1:34401533C>T ENST00000373381.4 - 4 716 c.540G>A c.(538-540)ggG>ggA p.G180G NM_052896.3 NP_443128.2 Q7Z408 CSMD2_HUMAN CUB and Sushi multiple domains 2 140 Sushi 1. integral to membrane|plasma membrane protein binding NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1) 246 Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249) TCCCTGGGTTCCCACATGTGT 0.597000 17 57 0 0 1 0 0 NOTCH3 4854 broad.mit.edu 37 19 15276261 15276261 + Silent SNP G G A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr19:15276261G>A ENST00000263388.2 - 31 5808 c.5733C>T c.(5731-5733)atC>atT p.I1911I NM_000435.2 NP_000426.2 Q9UM47 NOTC3_HUMAN notch 3 1911 Notch receptor processing|Notch signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|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) GGGCCGCCAGGATCAGTGCCG 0.572000 11 41 0 0 1 0 0 DHODH 1723 broad.mit.edu 37 16 72055184 72055184 + Missense_Mutation SNP G G A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr16:72055184G>A ENST00000572887.1 + 5 856 c.679G>A c.(679-681)Gcc>Acc p.A227T DHODH_ENST00000219240.4_Missense_Mutation_p.A227T|DHODH_ENST00000573922.1_Intron Q02127 PYRD_HUMAN dihydroorotate dehydrogenase (quinone) 227 'de novo' pyrimidine base biosynthetic process|pyrimidine nucleoside biosynthetic process|UMP biosynthetic process integral to membrane|mitochondrial inner membrane dihydroorotate oxidase activity breast(1)|endometrium(2)|large_intestine(4)|ovary(1)|skin(1)|stomach(1) 10 Ovarian(137;0.125) Atovaquone(DB01117)|Leflunomide(DB01097) TCAGGGAAAGGCCGAGCTGCG 0.682000 3 14 0 0 1 0 0 PLEKHO1 51177 broad.mit.edu 37 1 150128401 150128401 + Splice_Site SNP G G A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr1:150128401G>A ENST00000369124.4 + 3 596 c.e3+1 PLEKHO1_ENST00000369126.1_Splice_Site|PLEKHO1_ENST00000025469.6_Splice_Site|PLEKHO1_ENST00000479194.1_Splice_Site NM_016274.4 NP_057358.2 Q53GL0 PKHO1_HUMAN pleckstrin homology domain containing, family O member 1 cytoplasm|nucleus|plasma membrane breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|skin(2) 22 Lung NSC(24;7.78e-28)|Breast(34;0.00211)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171) LUSC - Lung squamous cell carcinoma(543;0.171) CGGTAACACGGTATGTTTCTC 0.522000 32 45 0 0 1 0 0 BBS9 27241 broad.mit.edu 37 7 33388771 33388771 + Missense_Mutation SNP T T C TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr7:33388771T>C ENST00000242067.6 + 13 1942 c.1421T>C c.(1420-1422)tTt>tCt p.F474S BBS9_ENST00000396127.2_Missense_Mutation_p.F474S|BBS9_ENST00000354265.4_Missense_Mutation_p.F474S|BBS9_ENST00000350941.3_Missense_Mutation_p.F474S|BBS9_ENST00000355070.2_Missense_Mutation_p.F474S NM_198428.2 NP_940820.1 Q3SYG4 PTHB1_HUMAN Bardet-Biedl syndrome 9 474 fat cell differentiation|response to stimulus|visual perception BBSome|cilium membrane|microtubule organizing center|nucleus protein binding BBS9/PKD1L1(2) NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 50 GBM - Glioblastoma multiforme(11;0.0894) CAGTTCACCTTTGAATTTATG 0.333000 Bardet-Biedl syndrome 22 64 0 0 1 0 0 GGT5 2687 broad.mit.edu 37 22 24621549 24621549 + Missense_Mutation SNP C C T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr22:24621549C>T ENST00000327365.4 - 9 1717 c.1301G>A c.(1300-1302)cGa>cAa p.R434Q GGT5_ENST00000263112.7_Missense_Mutation_p.R402Q|GGT5_ENST00000418439.2_Missense_Mutation_p.R357Q|GGT5_ENST00000398292.3_Missense_Mutation_p.R434Q NM_001099781.1|NM_004121.2 NP_001093251.1|NP_004112.2 P36269 GGT5_HUMAN gamma-glutamyltransferase 5 434 glutathione biosynthetic process|hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process integral to membrane|plasma membrane acyltransferase activity|gamma-glutamyltransferase activity breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(3)|skin(3) 28 CCGGGGGCATCGCTCGCATAA 0.647000 9 38 0 0 1 0 0 CLCN1 1180 broad.mit.edu 37 7 143042803 143042803 + Missense_Mutation SNP C C G TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr7:143042803C>G ENST00000343257.2 + 17 2207 c.2120C>G c.(2119-2121)tCc>tGc p.S707C NM_000083.2 NP_000074.2 P35523 CLCN1_HUMAN chloride channel, voltage-sensitive 1 707 muscle contraction chloride channel complex|integral to plasma membrane voltage-gated chloride channel activity breast(4)|central_nervous_system(1)|endometrium(1)|large_intestine(11)|lung(26)|ovary(3)|prostate(2)|skin(7)|stomach(1)|upper_aerodigestive_tract(2) 58 Melanoma(164;0.205) CGGCCCGAGTCCTTCGCCTTT 0.667000 OREG0018402 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 4 4 0 0 1 0 0 DYNC2H1 79659 broad.mit.edu 37 11 103070049 103070049 + Silent SNP G G A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr11:103070049G>A ENST00000375735.2 + 49 8076 c.7932G>A c.(7930-7932)ctG>ctA p.L2644L DYNC2H1_ENST00000398093.3_Silent_p.L2644L|DYNC2H1_ENST00000334267.7_Intron NM_001080463.1|NM_001377.2 NP_001073932.1|NP_001368.2 Q8NCM8 DYHC2_HUMAN dynein, cytoplasmic 2, heavy chain 1 2644 AAA 4 (By similarity). cell projection organization|Golgi organization|microtubule-based movement|multicellular organismal development cilium axoneme|dynein complex|Golgi apparatus|microtubule|plasma membrane ATP binding|ATPase activity|microtubule motor activity NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2) 33 Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348) BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785) ATAGAGTGCTGAGTTTCCCTG 0.423000 7 23 0 0 1 0 0 ABCA12 26154 broad.mit.edu 37 2 215815680 215815680 + Missense_Mutation SNP G G A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr2:215815680G>A ENST00000272895.7 - 45 6994 c.6775C>T c.(6775-6777)Ctc>Ttc p.L2259F ABCA12_ENST00000389661.4_Missense_Mutation_p.L1941F|AC072062.1_ENST00000607412.1_RNA NM_173076.2 NP_775099.2 Q86UK0 ABCAC_HUMAN ATP-binding cassette, sub-family A (ABC1), member 12 2259 ABC transporter 2. cellular homeostasis|lipid transport integral to membrane ATP binding|ATPase activity NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 139 Renal(323;0.127) Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011) GTCTTTGTGAGACAATAAAGT 0.408000 39 112 0 0 1 0 0 CPNE4 131034 broad.mit.edu 37 3 131261452 131261452 + Silent SNP C C T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr3:131261452C>T ENST00000512055.1 - 19 3614 c.1488G>A c.(1486-1488)gaG>gaA p.E496E CPNE4_ENST00000429747.1_Silent_p.E496E|CPNE4_ENST00000511604.1_Silent_p.E496E|CPNE4_ENST00000502818.1_Silent_p.E514E|CPNE4_ENST00000512332.1_Silent_p.E514E Q96A23 CPNE4_HUMAN copine IV 496 VWFA. central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|liver(1)|lung(16)|prostate(2)|skin(3)|upper_aerodigestive_tract(3) 39 GAAGAACAGGCTCTCCCTTGG 0.507000 26 82 0 0 1 0 0 GABBR1 2550 broad.mit.edu 37 6 29574966 29574966 + Missense_Mutation SNP A A T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr6:29574966A>T ENST00000377034.4 - 17 2357 c.2022T>A c.(2020-2022)ttT>ttA p.F674L GABBR1_ENST00000355973.3_Missense_Mutation_p.F557L|GABBR1_ENST00000376977.3_3'UTR|GABBR1_ENST00000377016.4_Missense_Mutation_p.F612L|GABBR1_ENST00000377012.4_Missense_Mutation_p.F557L NM_001470.2 NP_001461.1 Q9UBS5 GABR1_HUMAN gamma-aminobutyric acid (GABA) B receptor, 1 674 gamma-aminobutyric acid signaling pathway|negative regulation of adenylate cyclase activity|synaptic transmission cell junction|extracellular region|integral to plasma membrane|postsynaptic membrane G-protein coupled receptor activity|GABA-B receptor activity endometrium(3)|kidney(1)|large_intestine(13)|liver(1)|lung(16)|ovary(5)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 47 Baclofen(DB00181)|Progabide(DB00837) AGCCCAGACTAAAGCCCAGGC 0.562000 19 68 0 0 1 0 0 OR2T11 127077 broad.mit.edu 37 1 248790366 248790366 + Missense_Mutation SNP C C T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr1:248790366C>T ENST00000330803.2 - 1 125 c.64G>A c.(64-66)Ggg>Agg p.G22R NM_001001964.1 NP_001001964.1 Q8NH01 O2T11_HUMAN olfactory receptor, family 2, subfamily T, member 11 (gene/pseudogene) 22 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|large_intestine(5)|lung(20)|skin(2) 28 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0265) AATACAATCCCGGCAGCCTCA 0.532000 18 67 0 0 1 0 0 SIPA1L2 57568 broad.mit.edu 37 1 232538146 232538146 + Missense_Mutation SNP G G A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr1:232538146G>A ENST00000366630.1 - 21 5372 c.5014C>T c.(5014-5016)Ctt>Ttt p.L1672F SIPA1L2_ENST00000262861.4_Missense_Mutation_p.L1672F|SIPA1L2_ENST00000308942.4_Missense_Mutation_p.L728F Q9P2F8 SI1L2_HUMAN signal-induced proliferation-associated 1 like 2 1672 regulation of small GTPase mediated signal transduction intracellular GTPase activator activity NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 103 all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186) ACCTTCCGAAGGTCGGTCTGG 0.398000 24 25 0 0 1 0 0 OR5D13 390142 broad.mit.edu 37 11 55541282 55541282 + Silent SNP C C T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr11:55541282C>T ENST00000361760.1 + 1 369 c.369C>T c.(367-369)gaC>gaT p.D123D NM_001001967.1 NP_001001967.1 Q8NGL4 OR5DD_HUMAN olfactory receptor, family 5, subfamily D, member 13 123 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(1)|lung(20)|ovary(1)|pancreas(2)|skin(2)|stomach(1)|urinary_tract(1) 40 all_epithelial(135;0.196) TGGCTTATGACCGTTTTGTGG 0.428000 40 174 0 0 1 0 0 TAP2 6891 broad.mit.edu 37 6 32805546 32805546 + Silent SNP G G A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr6:32805546G>A ENST00000374897.2 - 2 596 c.465C>T c.(463-465)gcC>gcT p.A155A TAP2_ENST00000374899.4_Silent_p.A155A|TAP2_ENST00000452392.2_Silent_p.A155A NM_000544.3 NP_000535.3 Q03519 TAP2_HUMAN transporter 2, ATP-binding cassette, sub-family B (MDR/TAP) 155 ABC transmembrane type-1. antigen processing and presentation of endogenous peptide antigen via MHC class I via ER pathway, TAP-dependent|antigen processing and presentation of endogenous peptide antigen via MHC class Ib via ER pathway, TAP-dependent|antigen processing and presentation of exogenous protein antigen via MHC class Ib, TAP-dependent|cytosol to ER transport|intracellular transport of viral proteins in host cell|peptide antigen transport|positive regulation of antigen processing and presentation of peptide antigen via MHC class I|positive regulation of T cell mediated cytotoxicity nucleus|plasma membrane|TAP complex ATP binding|MHC class I protein binding|oligopeptide-transporting ATPase activity|peptide antigen binding|peptide antigen-transporting ATPase activity|TAP1 binding|TAP2 binding|tapasin binding GGAAGAAGAAGGCGGCAACGA 0.552000 15 58 0 0 1 0 0 ARHGEF40 55701 broad.mit.edu 37 14 21555551 21555551 + Missense_Mutation SNP C C T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr14:21555551C>T ENST00000298694.4 + 21 4443 c.4316C>T c.(4315-4317)cCg>cTg p.P1439L ARHGEF40_ENST00000298693.3_Intron Q8TER5 ARH40_HUMAN Rho guanine nucleotide exchange factor (GEF) 40 1439 regulation of Rho protein signal transduction cytoplasm Rho guanyl-nucleotide exchange factor activity large_intestine(4)|ovary(3)|upper_aerodigestive_tract(2) 9 GGCCTTTCGCCGGGAGCCTGC 0.697000 20 58 0 0 1 0 0 ENPP5 59084 broad.mit.edu 37 6 46133237 46133237 + Missense_Mutation SNP T T G TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr6:46133237T>G ENST00000371383.2 - 4 1153 c.893A>C c.(892-894)aAa>aCa p.K298T ENPP5_ENST00000230565.3_Missense_Mutation_p.K298T|ENPP5_ENST00000492313.1_5'UTR Q9UJA9 ENPP5_HUMAN ectonucleotide pyrophosphatase/phosphodiesterase 5 (putative) 298 extracellular region|integral to membrane hydrolase activity endometrium(3)|kidney(1)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1) 12 AACGTCTTCTTTTTTGTAAAC 0.388000 40 139 0 0 1 0 0 GBP7 388646 broad.mit.edu 37 1 89607244 89607244 + Missense_Mutation SNP C C T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr1:89607244C>T ENST00000294671.2 - 9 1591 c.1453G>A c.(1453-1455)Gag>Aag p.E485K NM_207398.2 NP_997281.2 Q8N8V2 GBP7_HUMAN guanylate binding protein 7 485 integral to membrane GTP binding|GTPase activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 Lung NSC(277;0.0908) all cancers(265;0.00835)|Epithelial(280;0.0322) ATGGCCTTCTCTCCAGCAGTG 0.507000 49 57 0 0 1 0 0 POLQ 10721 broad.mit.edu 37 3 121215771 121215771 + Missense_Mutation SNP G G A rs142688084 byFrequency TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr3:121215771G>A ENST00000264233.5 - 14 2290 c.2162C>T c.(2161-2163)aCc>aTc p.T721I NM_199420.3 NP_955452.3 O75417 DPOLQ_HUMAN polymerase (DNA directed), theta 721 DNA repair|DNA replication nucleoplasm ATP binding|ATP-dependent helicase activity|damaged DNA binding|DNA-directed DNA polymerase activity|single-stranded DNA-dependent ATPase activity NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2) 120 GBM - Glioblastoma multiforme(114;0.0915) CACAAGACTGGTGAAAAACCT 0.388000 DNA polymerases (catalytic subunits) 11 57 0 0 1 0 0 CTD-2066L21.3 0 broad.mit.edu 37 5 33162708 33162708 + RNA SNP G G A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr5:33162708G>A ENST00000510327.1 - 0 346 AACAAAAAACGATTTAAACAA 0.468000 3 8 0 0 1 0 0 ANK3 288 broad.mit.edu 37 10 61831691 61831691 + Missense_Mutation SNP G G A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr10:61831691G>A ENST00000280772.1 - 37 9139 c.8948C>T c.(8947-8949)tCg>tTg p.S2983L ANK3_ENST00000373827.2_Intron|ANK3_ENST00000503366.1_Intron|ANK3_ENST00000355288.2_Intron NM_020987.3 NP_066267.2 Q12955 ANK3_HUMAN ankyrin 3, node of Ranvier (ankyrin G) 2983 establishment of protein localization|signal transduction basolateral plasma membrane|cytoplasm|cytoskeleton protein binding NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7) 196 TGGAAATGCCGACTGTTCACA 0.418000 22 67 0 0 1 0 0 P2RY12 64805 broad.mit.edu 37 3 151055902 151055902 + Silent SNP T T A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr3:151055902T>A ENST00000302632.3 - 3 1031 c.732A>T c.(730-732)gtA>gtT p.V244V MED12L_ENST00000491549.1_Intron|MED12L_ENST00000474524.1_Intron|MED12L_ENST00000273432.4_Intron NM_022788.4|NM_176876.2 NP_073625.1|NP_795345.1 Q9H244 P2Y12_HUMAN purinergic receptor P2Y, G-protein coupled, 12 244 platelet activation integral to membrane|plasma membrane guanyl-nucleotide exchange factor activity breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)|skin(1) 17 LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517) Clopidogrel(DB00758)|Epoprostenol(DB01240)|Ticlopidine(DB00208)|Treprostinil(DB00374) AAATAAAGAATACAGCAATGA 0.413000 31 56 0 0 1 0 0 ANKRD30BP2 149992 broad.mit.edu 37 21 14414902 14414902 + RNA SNP G G A rs2821609 by1000genomes TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr21:14414902G>A ENST00000507941.1 + 0 95 CCAGCTTGACGTCCTTGATGG 0.443000 8 41 0 0 1 0 0 TNS4 84951 broad.mit.edu 37 17 38643619 38643619 + Silent SNP G G A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr17:38643619G>A ENST00000254051.6 - 4 1115 c.957C>T c.(955-957)agC>agT p.S319S NM_032865.5 NP_116254.4 Q8IZW8 TENS4_HUMAN tensin 4 319 Ser-rich. apoptosis|protein localization cytoplasm|cytoskeleton|focal adhesion actin binding NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(1) 30 Breast(137;0.000496) STAD - Stomach adenocarcinoma(5;5.91e-05) CTGAGCCAAGGCTGTGGAGGC 0.587000 15 43 0 0 1 0 0 LZTS1 11178 broad.mit.edu 37 8 20110389 20110389 + Silent SNP G G A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr8:20110389G>A ENST00000381569.1 - 3 1410 c.1053C>T c.(1051-1053)agC>agT p.S351S LZTS1_ENST00000522290.1_Silent_p.S351S|LZTS1_ENST00000265801.6_Silent_p.S351S Q9Y250 LZTS1_HUMAN leucine zipper, putative tumor suppressor 1 351 cell cycle|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter cell junction|dendritic spine|Golgi apparatus|nucleolus|nucleoplasm|postsynaptic density|postsynaptic membrane DNA binding|protein binding|sequence-specific DNA binding transcription factor activity breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(16)|ovary(2)|skin(1)|urinary_tract(1) 29 Colorectal(74;0.0511)|COAD - Colon adenocarcinoma(73;0.207) CCTTCATGAGGCTCTCGAGCT 0.652000 22 31 0 0 1 0 0 CDHR5 53841 broad.mit.edu 37 11 619080 619080 + Silent SNP C C T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr11:619080C>T ENST00000358353.3 - 14 1801 c.1479G>A c.(1477-1479)acG>acA p.T493T CDHR5_ENST00000397542.2_Silent_p.T493T|CDHR5_ENST00000349570.7_Intron Q9HBB8 CDHR5_HUMAN cadherin-related family member 5 493 calcium-dependent cell-cell adhesion|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|skin(2) 23 CAGAGCTGGTCGTGGAGGGTC 0.677000 12 32 0 0 1 0 0 NNT 23530 broad.mit.edu 37 5 43613102 43613102 + Silent SNP T T C TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr5:43613102T>C ENST00000264663.5 + 3 465 c.244T>C c.(244-246)Ttg>Ctg p.L82L NNT_ENST00000512996.2_5'UTR|NNT_ENST00000344920.4_Silent_p.L82L NM_012343.3 NP_036475.3 Q13423 NNTM_HUMAN nicotinamide nucleotide transhydrogenase 82 tricarboxylic acid cycle integral to membrane|mitochondrial respiratory chain NAD binding|NAD(P)+ transhydrogenase (AB-specific) activity|NAD(P)+ transhydrogenase (B-specific) activity|NADP binding breast(1)|central_nervous_system(2)|endometrium(2)|kidney(7)|large_intestine(6)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 Lung NSC(6;2.58e-06) NADH(DB00157) TGTTCAGAACTTGGTCAAGCA 0.473000 50 156 0 0 1 0 0 FXYD1 5348 broad.mit.edu 37 19 35633400 35633400 + Silent SNP G G A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr19:35633400G>A ENST00000588081.1 + 5 289 c.231G>A c.(229-231)gaG>gaA p.E77E FXYD1_ENST00000589209.1_Silent_p.E77E|FXYD1_ENST00000588715.1_Silent_p.E77E|FXYD1_ENST00000588607.1_Silent_p.E77E|FXYD1_ENST00000455515.2_Silent_p.E77E|FXYD1_ENST00000351325.4_Silent_p.E77E|CTD-2527I21.4_ENST00000592174.1_RNA O00168 PLM_HUMAN FXYD domain containing ion transport regulator 1 77 muscle contraction chloride channel complex|integral to plasma membrane chloride channel activity lung(3) 3 all_lung(56;7.56e-09)|Lung NSC(56;1.1e-08)|Esophageal squamous(110;0.162) Epithelial(14;2.32e-21)|OV - Ovarian serous cystadenocarcinoma(14;3.17e-20)|all cancers(14;2.43e-18)|LUSC - Lung squamous cell carcinoma(66;0.0849) ATGAAGAGGAGGGAACTTTCC 0.622000 15 77 0 0 1 0 0 LEFTY1 10637 broad.mit.edu 37 1 226074672 226074672 + Missense_Mutation SNP G G A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr1:226074672G>A ENST00000272134.5 - 4 935 c.856C>T c.(856-858)Ccg>Tcg p.P286S RP4-559A3.7_ENST00000432920.2_3'UTR NM_020997.3 NP_066277.1 O75610 LFTY1_HUMAN left-right determination factor 1 286 cell growth|multicellular organismal development|transforming growth factor beta receptor signaling pathway extracellular space cytokine activity|growth factor activity|transforming growth factor beta receptor binding cervix(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 10 Breast(184;0.197) AGGAAGCCCGGGGGCTCCAGC 0.662000 5 20 0 0 1 0 0 PAPPA 5069 broad.mit.edu 37 9 119106834 119106834 + Silent SNP C C T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr9:119106834C>T ENST00000328252.3 + 14 3993 c.3624C>T c.(3622-3624)ttC>ttT p.F1208F PAPPA_ENST00000534838.1_Silent_p.F246F NM_002581.3 NP_002572.2 Q13219 PAPP1_HUMAN pregnancy-associated plasma protein A, pappalysin 1 1208 cell differentiation|female pregnancy cytoplasm|extracellular region|membrane metalloendopeptidase activity|zinc ion binding NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1) 98 GCGTGCACTTCGCATGTGAGA 0.532000 31 113 0 0 1 0 0 TOX 9760 broad.mit.edu 37 8 59727942 59727942 + Silent SNP G G A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr8:59727942G>A ENST00000361421.1 - 7 1567 c.1347C>T c.(1345-1347)ctC>ctT p.L449L NM_014729.2 NP_055544.1 O94900 TOX_HUMAN thymocyte selection-associated high mobility group box 449 nucleus DNA binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(13)|prostate(1)|skin(2)|stomach(1) 33 all_cancers(86;0.165)|Myeloproliferative disorder(644;0.00452)|all_lung(136;0.036)|Lung NSC(129;0.0464)|all_epithelial(80;0.0607) CCTGCATGGGGAGCTGGTTCC 0.592000 14 57 0 0 1 0 0 ABCC2 1244 broad.mit.edu 37 10 101557015 101557015 + Missense_Mutation SNP C C T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr10:101557015C>T ENST00000370449.4 + 7 907 c.794C>T c.(793-795)tCc>tTc p.S265F ABCC2_ENST00000370434.1_Missense_Mutation_p.S265F NM_000392.3 NP_000383.1 Q92887 MRP2_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 2 265 apical plasma membrane|integral to plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity NS(1)|breast(5)|endometrium(9)|kidney(2)|large_intestine(20)|liver(1)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 67 Colorectal(252;0.234) Epithelial(162;2.77e-10)|all cancers(201;2.47e-08) Adenosine triphosphate(DB00171)|Norgestimate(DB00957)|Pravastatin(DB00175)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138) GAGAAGAGCTCCCagcagaac 0.517000 9 36 0 0 1 0 0 ATP6AP1L 92270 broad.mit.edu 37 5 81608652 81608652 + Silent SNP C C T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr5:81608652C>T ENST00000380167.4 + 9 1679 c.354C>T c.(352-354)gtC>gtT p.V118V ATP6AP1L_ENST00000439350.1_Silent_p.V118V|ATP6AP1L_ENST00000508366.1_3'UTR Q52LC2 VAS1L_HUMAN ATPase, H+ transporting, lysosomal accessory protein 1-like 118 ATP hydrolysis coupled proton transport integral to membrane|proton-transporting V-type ATPase, V1 domain hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|urinary_tract(1) 12 TGTGGGAGGTCACTTTTATTG 0.507000 OREG0016689 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 21 58 0 0 1 0 0 UHRF1BP1 54887 broad.mit.edu 37 6 34825568 34825568 + Silent SNP C C T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr6:34825568C>T ENST00000192788.5 + 13 1812 c.1641C>T c.(1639-1641)ctC>ctT p.L547L UHRF1BP1_ENST00000452449.2_Silent_p.L547L NM_017754.3 NP_060224.3 Q6BDS2 URFB1_HUMAN UHRF1 binding protein 1 547 breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(24)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(2) 54 TCAGTTTGCTCTGGGGAAACC 0.423000 40 101 0 0 1 0 0 PAPPA 5069 broad.mit.edu 37 9 119109484 119109484 + Silent SNP G G A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr9:119109484G>A ENST00000328252.3 + 15 4329 c.3960G>A c.(3958-3960)ttG>ttA p.L1320L PAPPA_ENST00000534838.1_Silent_p.L358L NM_002581.3 NP_002572.2 Q13219 PAPP1_HUMAN pregnancy-associated plasma protein A, pappalysin 1 1320 Sushi 2. cell differentiation|female pregnancy cytoplasm|extracellular region|membrane metalloendopeptidase activity|zinc ion binding NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1) 98 CTGCACAATTGAAAGGTATCA 0.537000 17 51 0 0 1 0 0 PCNT 5116 broad.mit.edu 37 21 47831650 47831650 + Missense_Mutation SNP C C G TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr21:47831650C>G ENST00000359568.5 + 28 5770 c.5663C>G c.(5662-5664)tCt>tGt p.S1888C PCNT_ENST00000480896.1_3'UTR NM_006031.5 NP_006022.3 O95613 PCNT_HUMAN pericentrin 1888 cilium assembly|G2/M transition of mitotic cell cycle cytosol|microtubule calmodulin binding NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 104 Breast(49;0.112) GCGGCCCACTCTGCCGAGCTG 0.667000 11 35 0 0 1 0 0 RFX2 5990 broad.mit.edu 37 19 6040081 6040081 + Silent SNP G G A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr19:6040081G>A ENST00000303657.5 - 5 581 c.432C>T c.(430-432)atC>atT p.I144I RFX2_ENST00000592546.1_Silent_p.I144I|RFX2_ENST00000359161.3_Silent_p.I144I NM_000635.3 NP_000626.2 P48378 RFX2_HUMAN regulatory factor X, 2 (influences HLA class II expression) 144 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding breast(4)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 21 CGCTGGAGACGATGGGGCTCC 0.692000 10 22 0 0 1 0 0 ZNF239 8187 broad.mit.edu 37 10 44052942 44052942 + Missense_Mutation SNP G G A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr10:44052942G>A ENST00000306006.6 - 2 1238 c.586C>T c.(586-588)Cca>Tca p.P196S ZNF239_ENST00000374446.2_Missense_Mutation_p.P196S|ZNF239_ENST00000535642.1_Missense_Mutation_p.P196S|ZNF239_ENST00000426961.1_Missense_Mutation_p.P196S NM_005674.2 NP_005665.2 Q16600 ZN239_HUMAN zinc finger protein 239 196 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 TTCTCATATGGATGACCATCT 0.438000 17 96 0 0 1 0 0 MARCO 8685 broad.mit.edu 37 2 119739977 119739977 + Missense_Mutation SNP G G A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr2:119739977G>A ENST00000541757.1 + 13 1200 c.820G>A c.(820-822)Ggg>Agg p.G274R MARCO_ENST00000327097.4_Missense_Mutation_p.G352R Q9UEW3 MARCO_HUMAN macrophage receptor with collagenous structure 352 Collagen-like. cell surface receptor linked signaling pathway|innate immune response collagen|integral to plasma membrane pattern recognition receptor activity|scavenger receptor activity breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(12)|lung(37)|ovary(4)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 70 AGGAAGCAAAGGGGACACAGG 0.582000 41 142 0 0 1 0 0 SLC2A9 56606 broad.mit.edu 37 4 9943610 9943610 + Silent SNP C C T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr4:9943610C>T ENST00000506583.1 - 8 871 c.654G>A c.(652-654)ctG>ctA p.L218L SLC2A9_ENST00000264784.3_Silent_p.L247L|SLC2A9_ENST00000309065.3_Silent_p.L218L Q9NRM0 GTR9_HUMAN solute carrier family 2 (facilitated glucose transporter), member 9 247 glucose transport|urate metabolic process integral to membrane|plasma membrane sugar:hydrogen symporter activity NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(12)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(1) 35 AGGGAAGGCTCAGCAGCTGGA 0.582000 12 27 0 0 1 0 0 ZCCHC5 203430 broad.mit.edu 37 X 77912994 77912994 + Silent SNP G G A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chrX:77912994G>A ENST00000321110.1 - 2 1219 c.924C>T c.(922-924)ttC>ttT p.F308F NM_152694.2 NP_689907.1 Q8N8U3 ZCHC5_HUMAN zinc finger, CCHC domain containing 5 308 nucleic acid binding|zinc ion binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(1)|prostate(1)|skin(1) 37 GCACAGGTATGAAACTTTCAC 0.478000 5 16 0 0 1 0 0 TRPC7 57113 broad.mit.edu 37 5 135692713 135692713 + Silent SNP G G A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr5:135692713G>A ENST00000513104.1 - 2 645 c.363C>T c.(361-363)atC>atT p.I121I TRPC7_ENST00000355180.3_Silent_p.I121I|TRPC7_ENST00000426057.2_Silent_p.I121I NM_020389.2 NP_065122.1 Q9HCX4 TRPC7_HUMAN transient receptor potential cation channel, subfamily C, member 7 121 axon guidance|platelet activation integral to membrane|plasma membrane calcium channel activity|protein binding NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(3) 46 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233) TGGCCTCCACGATGCGCACAT 0.657000 16 44 0 0 1 0 0 KIAA0226 9711 broad.mit.edu 37 3 197402345 197402345 + Missense_Mutation SNP A A C TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr3:197402345A>C ENST00000273582.5 - 20 3098 c.2553T>G c.(2551-2553)aaT>aaG p.N851K KIAA0226_ENST00000296343.5_Missense_Mutation_p.N896K NM_001145642.2 NP_001139114.1 Q92622 RUBIC_HUMAN KIAA0226 896 autophagy|endocytosis|negative regulation of autophagy|negative regulation of endocytosis early endosome|late endosome|lysosome protein binding NS(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 31 all_cancers(143;8.26e-10)|Ovarian(172;0.0418)|Breast(254;0.0976) Epithelial(36;2.19e-23)|all cancers(36;1.39e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.21e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06) GBM - Glioblastoma multiforme(93;0.0446) TGTCATCCTCATTCTGACAGA 0.547000 60 201 0 0 1 0 0 ABCC2 1244 broad.mit.edu 37 10 101557016 101557016 + Silent SNP C C T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr10:101557016C>T ENST00000370449.4 + 7 908 c.795C>T c.(793-795)tcC>tcT p.S265S ABCC2_ENST00000370434.1_Silent_p.S265S NM_000392.3 NP_000383.1 Q92887 MRP2_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 2 265 apical plasma membrane|integral to plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity NS(1)|breast(5)|endometrium(9)|kidney(2)|large_intestine(20)|liver(1)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 67 Colorectal(252;0.234) Epithelial(162;2.77e-10)|all cancers(201;2.47e-08) Adenosine triphosphate(DB00171)|Norgestimate(DB00957)|Pravastatin(DB00175)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138) AGAAGAGCTCCCagcagaact 0.517000 9 34 0 0 1 0 0 PCNX 22990 broad.mit.edu 37 14 71444685 71444685 + Missense_Mutation SNP C C T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr14:71444685C>T ENST00000304743.2 + 6 2077 c.1631C>T c.(1630-1632)cCt>cTt p.P544L PCNX_ENST00000439984.3_Missense_Mutation_p.P544L|PCNX_ENST00000238570.5_Missense_Mutation_p.P544L NM_014982.2 NP_055797.2 Q96RV3 PCX1_HUMAN pecanex homolog (Drosophila) 544 integral to membrane NS(2)|biliary_tract(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(14)|liver(2)|lung(40)|ovary(1)|prostate(7)|skin(2)|urinary_tract(1) 87 KIRC - Kidney renal clear cell carcinoma(12;0.206) all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417) GATGTTCGACCTAAATCTTCT 0.463000 42 146 0 0 1 0 0 WDHD1 11169 broad.mit.edu 37 14 55448271 55448271 + Missense_Mutation SNP G G A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr14:55448271G>A ENST00000360586.3 - 16 2115 c.2050C>T c.(2050-2052)Ccc>Tcc p.P684S WDHD1_ENST00000420358.2_Missense_Mutation_p.P561S|WDHD1_ENST00000421192.1_Missense_Mutation_p.P561S|WDHD1_ENST00000359167.4_Missense_Mutation_p.P202S NM_007086.3 NP_009017.1 O75717 WDHD1_HUMAN WD repeat and HMG-box DNA binding protein 1 684 cytoplasm|nucleoplasm DNA binding p.P684S(1) breast(3)|endometrium(4)|kidney(3)|large_intestine(9)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(2) 42 AGTTGCTGGGGATTTTCATGG 0.368000 22 65 0 0 1 0 0 UPF1 5976 broad.mit.edu 37 19 18943028 18943028 + Missense_Mutation SNP G G A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr19:18943028G>A ENST00000262803.5 + 1 282 c.10G>A c.(10-12)Gag>Aag p.E4K UPF1_ENST00000599848.1_Missense_Mutation_p.E4K NM_002911.3 NP_002902.2 Q92900 RENT1_HUMAN UPF1 regulator of nonsense transcripts homolog (yeast) 4 Sufficient for interaction with RENT2. cell cycle|DNA repair|DNA replication|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|chromatin binding|DNA binding|protein binding|RNA 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 CATGAGCGTGGAGGCGTACGG 0.711000 9 36 0 0 1 0 0 DPPA2 151871 broad.mit.edu 37 3 109031471 109031471 + Silent SNP G G A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr3:109031471G>A ENST00000478945.1 - 3 348 c.102C>T c.(100-102)gaC>gaT p.D34D NM_138815.3 NP_620170.3 Q7Z7J5 DPPA2_HUMAN developmental pluripotency associated 2 34 nucleus nucleic acid binding breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(19)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 CCATATTTGCGTCATCTTTAA 0.413000 39 137 0 0 1 0 0 OR51V1 283111 broad.mit.edu 37 11 5221451 5221451 + Silent SNP C C T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr11:5221451C>T ENST00000321255.1 - 1 479 c.480G>A c.(478-480)agG>agA p.R160R NM_001004760.2 NP_001004760.2 Q9H2C8 O51V1_HUMAN olfactory receptor, family 51, subfamily V, member 1 160 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|kidney(2)|large_intestine(13)|lung(19)|skin(2)|upper_aerodigestive_tract(2) 39 Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212) Epithelial(150;2.83e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) AGAAAAAACTCCTACCTATTA 0.393000 22 88 0 0 1 0 0 TOX 9760 broad.mit.edu 37 8 59720330 59720330 + Silent SNP C C T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr8:59720330C>T ENST00000361421.1 - 9 1777 c.1557G>A c.(1555-1557)agG>agA p.R519R NM_014729.2 NP_055544.1 O94900 TOX_HUMAN thymocyte selection-associated high mobility group box 519 nucleus DNA binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(13)|prostate(1)|skin(2)|stomach(1) 33 all_cancers(86;0.165)|Myeloproliferative disorder(644;0.00452)|all_lung(136;0.036)|Lung NSC(129;0.0464)|all_epithelial(80;0.0607) GTGCTTTGTCCCTCTGCATGC 0.443000 OREG0018787 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 13 62 0 0 1 0 0 RNF17 56163 broad.mit.edu 37 13 25433138 25433138 + Splice_Site SNP G G A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr13:25433138G>A ENST00000255324.5 + 26 3662 c.e26-1 RNF17_ENST00000339524.3_Splice_Site|RNF17_ENST00000381921.1_Splice_Site NM_001184993.1|NM_031277.2 NP_001171922.1|NP_112567.2 Q9BXT8 RNF17_HUMAN ring finger protein 17 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) CTTTTTTTCAGAATTTGAGCT 0.284000 6 15 0 0 1 0 0 TRAV9-2 28677 broad.mit.edu 37 14 22409795 22409795 + RNA SNP G G A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr14:22409795G>A ENST00000390441.2 + 0 341 TCCACTTGGAGAAAGGCTCAG 0.507000 15 62 0 0 1 0 0 HOXC5 3222 broad.mit.edu 37 12 54427267 54427267 + Nonsense_Mutation SNP G G T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr12:54427267G>T ENST00000312492.2 + 1 631 c.361G>T c.(361-363)Gag>Tag p.E121* HOXC4_ENST00000303406.4_Intron|HOXC5_ENST00000512206.1_Intron NM_018953.2 NP_061826.1 Q00444 HXC5_HUMAN homeobox C5 121 regulation of transcription from RNA polymerase II promoter cell junction|nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity cervix(1)|large_intestine(1)|lung(6)|pancreas(1)|prostate(2)|urinary_tract(1) 12 GATCAAAGAGGAGCAGGCGCA 0.637000 3 10 0.115264 0.115408 1 1 0 PCDHGA3 56112 broad.mit.edu 37 5 140723673 140723673 + Missense_Mutation SNP G G A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr5:140723673G>A ENST00000253812.6 + 1 73 c.73G>A c.(73-75)Gaa>Aaa p.E25K PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron NM_018916.3|NM_032011.1 NP_061739.2|NP_114400.1 breast(1) 1 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GACGCTGTGCGAAACAGGATC 0.567000 OREG0016855 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 56 176 0 0 1 0 0 PDE6C 5146 broad.mit.edu 37 10 95372700 95372700 + Missense_Mutation SNP G G A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr10:95372700G>A ENST00000371447.3 + 1 356 c.218G>A c.(217-219)gGg>gAg p.G73E NM_006204.3 NP_006195.3 P51160 PDE6C_HUMAN phosphodiesterase 6C, cGMP-specific, cone, alpha prime 73 visual perception plasma membrane 3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|metal ion binding breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(12)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1) 42 Colorectal(252;0.123) CAGGAGGAGGGGGGCACCCCA 0.672000 10 38 0 0 1 0 0 HUWE1 10075 broad.mit.edu 37 X 53563559 53563559 + Silent SNP G G A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chrX:53563559G>A ENST00000342160.3 - 78 12664 c.12207C>T c.(12205-12207)atC>atT p.I4069I HUWE1_ENST00000262854.6_Silent_p.I4069I Q7Z6Z7 HUWE1_HUMAN HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase 4069 HECT. 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 TCTCTCGAGAGATGATCATAT 0.483000 28 51 0 0 1 0 0 IL1R1 3554 broad.mit.edu 37 2 102791057 102791057 + Silent SNP C C T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr2:102791057C>T ENST00000410023.1 + 10 1320 c.1002C>T c.(1000-1002)ttC>ttT p.F334F IL1R1_ENST00000233946.3_Silent_p.F334F|AC007271.3_ENST00000428188.1_RNA|IL1R1_ENST00000409288.1_Silent_p.F334F|IL1R1_ENST00000409929.1_Silent_p.F334F|IL1R1_ENST00000409589.1_Intron|IL1R1_ENST00000409329.1_Silent_p.F334F|IL1R1_ENST00000424272.1_Silent_p.F334F P14778 IL1R1_HUMAN interleukin 1 receptor, type I 334 innate immune response integral to plasma membrane interleukin-1, Type I, activating receptor activity|platelet-derived growth factor receptor binding breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|prostate(2)|skin(3) 19 Anakinra(DB00026) TCACTAATTTCCAGAAGCACA 0.303000 12 29 0 0 1 0 0 C17orf104 284071 broad.mit.edu 37 17 42744143 42744143 + Silent SNP C C T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr17:42744143C>T ENST00000409122.2 + 5 1006 c.864C>T c.(862-864)taC>taT p.Y288Y C17orf104_ENST00000409464.1_Silent_p.Y122Y|C17orf104_ENST00000359945.3_Silent_p.Y288Y NM_001145080.2 NP_001138552.2 A2RUB1 CQ104_HUMAN chromosome 17 open reading frame 104 288 autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(2)|pancreas(1)|skin(1) 24 TTGATATCTACCATTATGGAA 0.353000 10 33 0 0 1 0 0 CASC5 57082 broad.mit.edu 37 15 40913497 40913497 + Missense_Mutation SNP T T G TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr15:40913497T>G ENST00000346991.5 + 11 1503 c.1113T>G c.(1111-1113)aaT>aaG p.N371K CASC5_ENST00000399668.2_Missense_Mutation_p.N345K|CASC5_ENST00000527044.1_3'UTR Q8NG31 CASC5_HUMAN cancer susceptibility candidate 5 371 Interaction with BUB1 and BUB1B. acrosome assembly|attachment of spindle microtubules to kinetochore|cell division|CenH3-containing nucleosome assembly at centromere|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) AAACTCAGAATGCCATGGATG 0.328000 22 75 0 0 1 0 0 SVEP1 79987 broad.mit.edu 37 9 113148336 113148336 + Missense_Mutation SNP G G A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr9:113148336G>A ENST00000401783.2 - 43 10415 c.10079C>T c.(10078-10080)cCt>cTt p.P3360L SVEP1_ENST00000374469.1_Missense_Mutation_p.P3337L|SVEP1_ENST00000297826.5_Missense_Mutation_p.P1286L NM_153366.3 NP_699197.3 Q4LDE5 SVEP1_HUMAN sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1 3360 Sushi 33. cell adhesion cytoplasm|extracellular region|membrane calcium ion binding NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4) 147 AATCACAAAAGGAACAGGGCA 0.408000 15 82 0 0 1 0 0 TMEM202 338949 broad.mit.edu 37 15 72690748 72690748 + Splice_Site SNP G G A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr15:72690748G>A ENST00000341689.3 + 1 135 c.81_splice c.e1+1 p.R27_splice TMEM202_ENST00000567679.1_Splice_Site_p.R27_splice NM_001080462.1 NP_001073931.1 A6NGA9 TM202_HUMAN transmembrane protein 202 27 integral to membrane NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(4)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 18 AATACCAAAGGGTGAGGAGGT 0.433000 7 20 0 0 1 0 0 HIVEP3 59269 broad.mit.edu 37 1 41978972 41978972 + Missense_Mutation SNP C C T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr1:41978972C>T ENST00000372584.1 - 7 6934 c.5920G>A c.(5920-5922)Gaa>Aaa p.E1974K HIVEP3_ENST00000429157.2_Missense_Mutation_p.E1974K|HIVEP3_ENST00000372583.1_Missense_Mutation_p.E1974K|HIVEP3_ENST00000247584.5_Missense_Mutation_p.E1974K|HIVEP3_ENST00000460604.1_5'UTR NM_001127714.2 NP_001121186.1 Q5T1R4 ZEP3_HUMAN human immunodeficiency virus type I enhancer binding protein 3 1974 positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus zinc ion binding NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 85 Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0367) CTGCCTGCTTCTTTGCTTGGG 0.617000 40 67 0 0 1 0 0 C4orf50 389197 broad.mit.edu 37 4 5969157 5969157 + Missense_Mutation SNP C C T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr4:5969157C>T ENST00000531445.1 - 5 1909 c.1863G>A c.(1861-1863)atG>atA p.M621I C4orf50_ENST00000324058.5_Missense_Mutation_p.M147I Q6ZRC1 CD050_HUMAN chromosome 4 open reading frame 50 147 breast(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(2)|skin(3)|urinary_tract(1) 15 AAGCTGCCGTCATCTCAGACT 0.527000 28 78 0 0 1 0 0 CMTM7 112616 broad.mit.edu 37 3 32490966 32490966 + Silent SNP C C T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr3:32490966C>T ENST00000334983.5 + 3 590 c.354C>T c.(352-354)atC>atT p.I118I CMTM7_ENST00000349718.4_Intron NM_138410.2 NP_612419.1 Q96FZ5 CKLF7_HUMAN CKLF-like MARVEL transmembrane domain containing 7 118 MARVEL. chemotaxis extracellular space|integral to membrane cytokine activity endometrium(1)|large_intestine(1)|lung(2) 4 ACTATTTAATCGGTACCCTGC 0.542000 26 102 0 0 1 0 0 MERTK 10461 broad.mit.edu 37 2 112754998 112754998 + Missense_Mutation SNP T T A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr2:112754998T>A ENST00000295408.4 + 10 1806 c.1549T>A c.(1549-1551)Ttg>Atg p.L517M MERTK_ENST00000421804.2_Missense_Mutation_p.L517M|MERTK_ENST00000409780.1_Missense_Mutation_p.L341M Q12866 MERTK_HUMAN c-mer proto-oncogene tyrosine kinase 517 cell surface receptor linked signaling pathway|cell-cell signaling|leukocyte migration integral to plasma membrane|soluble fraction ATP binding|transmembrane receptor protein tyrosine kinase activity breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(10) 46 TTTGATTGGGTTGATTTTATA 0.458000 28 112 0 0 1 0 0 CTNNA3 29119 broad.mit.edu 37 10 68940116 68940116 + Missense_Mutation SNP G G A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr10:68940116G>A ENST00000433211.1 - 7 1180 c.1006C>T c.(1006-1008)Cgc>Tgc p.R336C CTNNA3_ENST00000545309.1_Missense_Mutation_p.R336C|CTNNA3_ENST00000494580.1_5'UTR|CTNNA3_ENST00000373744.4_Missense_Mutation_p.R336C NM_013266.2 NP_037398.2 Q9UI47 CTNA3_HUMAN catenin (cadherin-associated protein), alpha 3 336 cell-cell adhesion actin cytoskeleton|cytoplasm|fascia adherens cadherin binding|structural molecule activity p.R336C(1) breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(1)|lung(50)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1) 95 AGAGCCTGGCGAATGGCGTTG 0.512000 19 52 0 0 1 0 0 FAT1 2195 broad.mit.edu 37 4 187510253 187510253 + Silent SNP G G A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr4:187510253G>A ENST00000441802.2 - 27 13469 c.13260C>T c.(13258-13260)atC>atT p.I4420I NM_005245.3 NP_005236.2 Q14517 FAT1_HUMAN FAT atypical cadherin 1 4420 actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm calcium ion binding|protein binding NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4) 228 AGTCCGTATCGATGGCGTTTG 0.537000 HNSCC(5;0.00058) 60 244 0 0 1 0 0 PNKD 25953 broad.mit.edu 37 2 219204780 219204780 + Silent SNP C C T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr2:219204780C>T ENST00000273077.4 + 4 432 c.381C>T c.(379-381)ctC>ctT p.L127L AC021016.8_ENST00000411433.1_RNA|PNKD_ENST00000258362.3_Silent_p.L103L|PNKD_ENST00000436005.2_Silent_p.L67L NM_015488.4 NP_056303.3 Q8N490 PNKD_HUMAN paroxysmal nonkinesigenic dyskinesia 127 membrane|mitochondrion|nucleus hydroxyacylglutathione hydrolase activity|zinc ion binding NS(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|skin(2) 10 Renal(207;0.0474) Epithelial(149;7.33e-07)|all cancers(144;0.000133)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) TCCCTGTCCTCTCGGACAACT 0.647000 18 52 0 0 1 0 0 PLCB4 5332 broad.mit.edu 37 20 9391729 9391729 + Missense_Mutation SNP C C T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr20:9391729C>T ENST00000378501.2 + 21 2024 c.2009C>T c.(2008-2010)tCg>tTg p.S670L PLCB4_ENST00000278655.4_Missense_Mutation_p.S670L|PLCB4_ENST00000334005.3_Missense_Mutation_p.S670L|PLCB4_ENST00000414679.2_Missense_Mutation_p.S682L|PLCB4_ENST00000378493.1_Missense_Mutation_p.S670L|PLCB4_ENST00000492632.1_3'UTR|PLCB4_ENST00000378473.3_Missense_Mutation_p.S682L NM_000933.3 NP_000924.3 Q15147 PLCB4_HUMAN phospholipase C, beta 4 670 PI-PLC Y-box. intracellular signal transduction|lipid catabolic process cytosol calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity p.S670L(1) NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1) 87 TATAATGGATCGTGCGGGTGA 0.363000 10 56 0 0 1 0 0 TRAFD1 10906 broad.mit.edu 37 12 112578685 112578685 + Silent SNP C C T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr12:112578685C>T ENST00000257604.5 + 5 917 c.300C>T c.(298-300)ctC>ctT p.L100L TRAFD1_ENST00000412615.2_Silent_p.L100L NM_001143906.1 NP_001137378.1 O14545 TRAD1_HUMAN TRAF-type zinc finger domain containing 1 100 negative regulation of innate immune response intracellular protein binding|zinc ion binding kidney(5)|large_intestine(3)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 17 TTTCCATTCTCAAACTGAAGG 0.463000 28 85 0 0 1 0 0 LVRN 206338 broad.mit.edu 37 5 115341655 115341655 + Missense_Mutation SNP C C T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr5:115341655C>T ENST00000357872.4 + 13 2208 c.2084C>T c.(2083-2085)tCc>tTc p.S695F AQPEP_ENST00000395528.2_Missense_Mutation_p.S212F NM_173800.4 NP_776161.3 Q6Q4G3 AMPQ_HUMAN 695 proteolysis integral to membrane metallopeptidase activity|zinc ion binding GATGCCTTTTCCTTGTCTAAG 0.348000 9 47 0 0 1 0 0 LAMA3 3909 broad.mit.edu 37 18 21484573 21484573 + Missense_Mutation SNP C C T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr18:21484573C>T ENST00000313654.9 + 51 6771 c.6530C>T c.(6529-6531)aCc>aTc p.T2177I LAMA3_ENST00000588770.1_3'UTR|LAMA3_ENST00000587184.1_Missense_Mutation_p.T512I|LAMA3_ENST00000399516.3_Missense_Mutation_p.T2121I|LAMA3_ENST00000269217.6_Missense_Mutation_p.T568I NM_198129.1 NP_937762.1 Q16787 LAMA3_HUMAN laminin, alpha 3 2177 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) GATGCCGCCACCGCCTACGAG 0.617000 4 17 0 0 1 0 0 PTH2R 5746 broad.mit.edu 37 2 209358099 209358099 + Silent SNP G G A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr2:209358099G>A ENST00000272847.2 + 13 1581 c.1368G>A c.(1366-1368)acG>acA p.T456T PTH2R_ENST00000413482.1_3'UTR|AC019185.4_ENST00000424628.1_RNA NM_005048.2 NP_005039.1 P49190 PTH2R_HUMAN parathyroid hormone 2 receptor 456 integral to plasma membrane parathyroid hormone receptor activity breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(21)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 43 Epithelial(149;0.0684)|Lung(261;0.0785)|LUSC - Lung squamous cell carcinoma(261;0.0836) CCACCGTGACGCACAGCACCA 0.607000 11 39 0 0 1 0 0 SLC26A5 375611 broad.mit.edu 37 7 103029537 103029537 + Missense_Mutation SNP A A C TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr7:103029537A>C ENST00000306312.3 - 14 1693 c.1432T>G c.(1432-1434)Tcc>Gcc p.S478A SLC26A5_ENST00000393723.1_Missense_Mutation_p.S446A|SLC26A5_ENST00000393727.1_Missense_Mutation_p.S478A|SLC26A5_ENST00000393729.1_Missense_Mutation_p.S441A|SLC26A5_ENST00000393730.1_Missense_Mutation_p.S446A|SLC26A5_ENST00000393735.2_Missense_Mutation_p.S478A|SLC26A5_ENST00000356767.4_Intron|SLC26A5_ENST00000354356.4_5'UTR|SLC26A5_ENST00000339444.6_Missense_Mutation_p.S478A|SLC26A5_ENST00000432958.2_Missense_Mutation_p.S446A NM_198999.2 NP_945350.1 P58743 S26A5_HUMAN solute carrier family 26 (anion exchanger), member 5 478 regulation of cell shape|sensory perception of sound integral to membrane secondary active sulfate transmembrane transporter activity endometrium(5)|kidney(2)|large_intestine(9)|lung(15)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5) 43 AACAAGGAGGACACAAAAGTG 0.443000 6 38 0 0 1 0 0 PLEKHG6 55200 broad.mit.edu 37 12 6421437 6421437 + Silent SNP C C T rs146528945 byFrequency TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr12:6421437C>T ENST00000396988.3 + 2 275 c.45C>T c.(43-45)ctC>ctT p.L15L PLEKHG6_ENST00000011684.7_Silent_p.L15L|PLEKHG6_ENST00000538208.1_3'UTR|PLEKHG6_ENST00000536531.1_Silent_p.L15L NM_001144856.1 NP_001138328.1 Q3KR16 PKHG6_HUMAN pleckstrin homology domain containing, family G (with RhoGef domain) member 6 15 regulation of Rho protein signal transduction cleavage furrow|cytoplasm|spindle pole GTPase activator activity|Rho guanyl-nucleotide exchange factor activity autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|skin(4) 23 TCCAAGGACTCGTGGCCTCCC 0.587000 20 76 0 0 1 0 0 LMAN1 3998 broad.mit.edu 37 18 57014755 57014755 + Missense_Mutation SNP C C T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr18:57014755C>T ENST00000251047.5 - 7 1529 c.812G>A c.(811-813)gGa>gAa p.G271E LMAN1_ENST00000587940.1_5'UTR NM_005570.3 NP_005561.1 P49257 LMAN1_HUMAN lectin, mannose-binding, 1 271 blood coagulation|ER to Golgi vesicle-mediated transport|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine|protein transport endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane mannose binding|metal ion binding|unfolded protein binding breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1) 16 Colorectal(73;0.0946) Antihemophilic Factor(DB00025) CGGCTCTTTTCCAGGTTCAGT 0.323000 8 15 0 0 1 0 0 OR5AS1 219447 broad.mit.edu 37 11 55798326 55798326 + Silent SNP C C T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr11:55798326C>T ENST00000313555.1 + 1 432 c.432C>T c.(430-432)ttC>ttT p.F144F NM_001001921.1 NP_001001921.1 Q8N127 O5AS1_HUMAN olfactory receptor, family 5, subfamily AS, member 1 144 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(7)|large_intestine(7)|liver(1)|lung(22)|ovary(3)|prostate(4)|skin(3)|stomach(1) 48 Esophageal squamous(21;0.00693) GTGTCTGCTTCATTGTGTTGG 0.458000 40 149 0 0 1 0 0 COL4A5 1287 broad.mit.edu 37 X 107838825 107838825 + Missense_Mutation SNP C C T rs104886330 TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chrX:107838825C>T ENST00000328300.6 + 22 1754 c.1510C>T c.(1510-1512)Cct>Tct p.P504S COL4A5_ENST00000361603.2_Missense_Mutation_p.P504S NM_033380.2 NP_203699.1 P29400 CO4A5_HUMAN collagen, type IV, alpha 5 504 Triple-helical region. Missing (in APSX; juvenile type). axon guidance collagen type IV extracellular matrix structural constituent|protein binding p.P504S(1) NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 99 TCTCCCAGGTCCTCCAGGTAA 0.403000 Alport syndrome with Diffuse Leiomyomatosis 16 53 0 0 1 0 0 ABCA13 154664 broad.mit.edu 37 7 48316106 48316106 + Silent SNP G G A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr7:48316106G>A ENST00000435803.1 + 17 6867 c.6843G>A c.(6841-6843)gaG>gaA p.E2281E NM_152701.3 NP_689914.2 Q86UQ4 ABCAD_HUMAN ATP-binding cassette, sub-family A (ABC1), member 13 2281 transport integral to membrane ATP binding|ATPase activity breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4) 270 AAGATTCTGAGAACAAAATAT 0.338000 10 21 0 0 1 0 0 DPP10 57628 broad.mit.edu 37 2 115200379 115200379 + Silent SNP C C T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr2:115200379C>T ENST00000410059.1 + 1 504 c.24C>T c.(22-24)tcC>tcT p.S8S NM_001178037.1|NM_020868.3 NP_001171508.1|NP_065919.2 Q8N608 DPP10_HUMAN dipeptidyl-peptidase 10 (non-functional) 8 Mediates effects on KCND2. proteolysis integral to membrane|membrane fraction serine-type peptidase activity breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1) 101 CCAGCGTGTCCCATCACATCA 0.473000 13 41 0 0 1 0 0 AGAP2 116986 broad.mit.edu 37 12 58121520 58121520 + Missense_Mutation SNP A A T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr12:58121520A>T ENST00000257897.3 - 15 1818 c.1733T>A c.(1732-1734)aTc>aAc p.I578N AGAP2_ENST00000547588.1_Missense_Mutation_p.I934N|AGAP2-AS1_ENST00000542466.2_Missense_Mutation_p.M249L NM_014770.3 NP_055585.1 Q99490 AGAP2_HUMAN ArfGAP with GTPase domain, ankyrin repeat and PH domain 2 934 axon guidance|negative regulation of neuron apoptosis|negative regulation of protein catabolic process|protein transport|regulation of ARF GTPase activity|small GTPase mediated signal transduction mitochondrion|nucleolus ARF GTPase activator activity|GTP binding|zinc ion binding breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|large_intestine(7)|lung(20)|prostate(3)|skin(1)|stomach(1) 48 GATCGCCTGGATGGCCACGGC 0.627000 3 26 0 0 1 0 0 KAT2B 8850 broad.mit.edu 37 3 20141445 20141445 + Splice_Site SNP A A T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr3:20141445A>T ENST00000263754.4 + 4 1123 c.669_splice c.e4+1 p.Q223_splice KAT2B_ENST00000426228.1_3'UTR NM_003884.4 NP_003875.3 Q92831 KAT2B_HUMAN K(lysine) acetyltransferase 2B 223 cell cycle arrest|cellular response to insulin stimulus|chromatin remodeling|histone H3 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|negative regulation of cell proliferation|transcription initiation from RNA polymerase I promoter Ada2/Gcn5/Ada3 transcription activator complex|chromatin remodeling complex|PCAF complex cyclin-dependent protein kinase inhibitor activity|histone acetyltransferase activity|histone deacetylase binding|protein kinase binding|transcription coactivator activity|transcription factor binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1) 40 AGCATTGAACaggtaaaaaga 0.378000 10 44 0 0 1 0 0 TRAV24 28659 broad.mit.edu 37 14 22573960 22573960 + RNA SNP G G C TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr14:22573960G>C ENST00000390453.1 + 0 180 GGTACAGATGGGAAACTGCAA 0.448000 3 15 0 0 1 0 0 SUCLG1 8802 broad.mit.edu 37 2 84668385 84668385 + Missense_Mutation SNP G G A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr2:84668385G>A ENST00000393868.2 - 4 727 c.517C>T c.(517-519)Cct>Tct p.P173S NM_003849.3 NP_003840.2 P53597 SUCA_HUMAN succinate-CoA ligase, alpha subunit 173 tricarboxylic acid cycle ATP citrate synthase activity|GTP binding|succinate-CoA ligase (GDP-forming) activity kidney(4)|large_intestine(4)|lung(2) 10 Succinic acid(DB00139) ATGACTCCAGGGCAGTTGGGC 0.458000 22 82 0 0 1 0 0 MSI1 4440 broad.mit.edu 37 12 120791151 120791151 + Silent SNP G G A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr12:120791151G>A ENST00000257552.2 - 10 772 c.684C>T c.(682-684)gcC>gcT p.A228A MSI1_ENST00000546622.1_5'UTR NM_002442.3 NP_002433.1 O43347 MSI1H_HUMAN musashi RNA-binding protein 1 228 nervous system development cytoplasm|nucleus nucleotide binding breast(4)|central_nervous_system(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(5)|skin(2) 19 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) AACTCCGGCTGGCGTAGGTTG 0.607000 23 91 0 0 1 0 0 ZNF343 79175 broad.mit.edu 37 20 2464742 2464742 + Missense_Mutation SNP G G A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr20:2464742G>A ENST00000278772.4 - 6 1352 c.865C>T c.(865-867)Cgt>Tgt p.R289C RP4-734P14.4_ENST00000461548.1_Intron NM_024325.4 NP_077301.4 Q6P1L6 ZN343_HUMAN zinc finger protein 343 289 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|skin(4)|upper_aerodigestive_tract(1) 25 GAGTGTATACGATGGTGTCTG 0.478000 28 83 0 0 1 0 0 STARD13 90627 broad.mit.edu 37 13 33716453 33716453 + Silent SNP C C T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr13:33716453C>T ENST00000336934.5 - 4 497 c.381G>A c.(379-381)agG>agA p.R127R STARD13_ENST00000487412.1_5'UTR|STARD13_ENST00000399365.3_Silent_p.R9R|STARD13_ENST00000255486.4_Silent_p.R119R NM_001243476.1|NM_178006.3 NP_001230405.1|NP_821074.1 Q9Y3M8 STA13_HUMAN StAR-related lipid transfer (START) domain containing 13 127 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|lipid particle|mitochondrial membrane GTPase activator activity|protein binding breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|soft_tissue(1)|upper_aerodigestive_tract(1) 40 all_epithelial(80;0.155) Lung SC(185;0.0367) all cancers(112;1.31e-05)|Epithelial(112;0.000142)|BRCA - Breast invasive adenocarcinoma(63;0.00936)|OV - Ovarian serous cystadenocarcinoma(117;0.0533)|Lung(94;0.143)|GBM - Glioblastoma multiforme(144;0.143) CTACCTTTTTCCTTTGGAAGT 0.388000 15 63 0 0 1 0 0 SPINK5 11005 broad.mit.edu 37 5 147488344 147488344 + Missense_Mutation SNP G G A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr5:147488344G>A ENST00000359874.3 + 18 1709 c.1636G>A c.(1636-1638)Gat>Aat p.D546N SPINK5_ENST00000398454.1_Missense_Mutation_p.D546N|SPINK5_ENST00000256084.7_Missense_Mutation_p.D546N NM_001127698.1 NP_001121170.1 Q9NQ38 ISK5_HUMAN serine peptidase inhibitor, Kazal type 5 546 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) gaagaaaaatgataaagaaga 0.333000 23 94 0 0 1 0 0 PRSS35 167681 broad.mit.edu 37 6 84234034 84234034 + Missense_Mutation SNP G G A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr6:84234034G>A ENST00000536636.1 + 3 1219 c.874G>A c.(874-876)Gaa>Aaa p.E292K PRSS35_ENST00000369700.3_Missense_Mutation_p.E292K NM_001170423.1 NP_001163894.1 Q8N3Z0 PRS35_HUMAN protease, serine, 35 292 Peptidase S1. proteolysis extracellular region serine-type endopeptidase activity breast(2)|endometrium(2)|large_intestine(12)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1) 32 all_cancers(76;0.000113)|Acute lymphoblastic leukemia(125;1.09e-08)|all_hematologic(105;3.12e-05)|all_epithelial(107;0.0575) BRCA - Breast invasive adenocarcinoma(397;0.0768) GAAATACATGGAACTTGGAAT 0.488000 27 71 0 0 1 0 0 PAPPA 5069 broad.mit.edu 37 9 119115986 119115986 + Nonsense_Mutation SNP A A T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr9:119115986A>T ENST00000328252.3 + 17 4630 c.4261A>T c.(4261-4263)Aaa>Taa p.K1421* PAPPA_ENST00000534838.1_Nonsense_Mutation_p.K459* NM_002581.3 NP_002572.2 Q13219 PAPP1_HUMAN pregnancy-associated plasma protein A, pappalysin 1 1421 Sushi 4. cell differentiation|female pregnancy cytoplasm|extracellular region|membrane metalloendopeptidase activity|zinc ion binding NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1) 98 ACCTCCACCAAAATTCCATGG 0.527000 32 92 0 0 1 0 0 LOC440040 440040 broad.mit.edu 37 11 49598250 49598250 + RNA SNP C C T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr11:49598250C>T ENST00000527477.1 + 0 854 GGCCTGGTTCCAGTTCTGTAG 0.498000 5 36 0 0 1 0 0 DHX29 54505 broad.mit.edu 37 5 54577307 54577307 + Nonsense_Mutation SNP G G A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr5:54577307G>A ENST00000251636.5 - 12 2150 c.2002C>T c.(2002-2004)Cga>Tga p.R668* RP11-506H20.1_ENST00000506435.1_RNA NM_019030.2 NP_061903.2 Q7Z478 DHX29_HUMAN DEAH (Asp-Glu-Ala-His) box polypeptide 29 668 Helicase ATP-binding. ATP binding|ATP-dependent helicase activity|translation initiation factor activity breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(11)|lung(6)|ovary(4)|prostate(1)|skin(3)|urinary_tract(2) 46 Lung NSC(810;4.08e-05)|Breast(144;0.0544)|Prostate(74;0.183) TCACAAGCTCGAGATTCCATC 0.378000 20 95 0 0 1 0 0 A1CF 29974 broad.mit.edu 37 10 52610484 52610484 + Missense_Mutation SNP C C T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr10:52610484C>T ENST00000395489.2 - 5 415 c.19G>A c.(19-21)Ggc>Agc p.G7S A1CF_ENST00000374001.1_Intron|A1CF_ENST00000282641.2_Intron|A1CF_ENST00000373995.3_Missense_Mutation_p.G22S|A1CF_ENST00000373997.3_Intron|A1CF_ENST00000395495.1_Intron|A1CF_ENST00000373993.1_Intron NM_001198819.1 NP_001185748.1 Q9NQ94 A1CF_HUMAN APOBEC1 complementation factor 0 cytidine to uridine editing|mRNA modification|mRNA processing|protein stabilization apolipoprotein B mRNA editing enzyme complex|endoplasmic reticulum|nucleoplasm nucleotide binding|protein binding|single-stranded RNA binding NS(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(14)|prostate(2)|skin(3) 29 TTTTTGAGGCCAGGAATTGCT 0.433000 27 140 0 0 1 0 0 ENTPD1 953 broad.mit.edu 37 10 97605259 97605259 + Missense_Mutation SNP G G A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr10:97605259G>A ENST00000371203.5 + 5 892 c.305G>A c.(304-306)cGc>cAc p.R102H ENTPD1_ENST00000543964.1_Missense_Mutation_p.R132H|ENTPD1_ENST00000453258.2_Missense_Mutation_p.R247H|RP11-429G19.3_ENST00000433113.1_RNA|ENTPD1-AS1_ENST00000416301.1_RNA|ENTPD1_ENST00000371207.3_Missense_Mutation_p.R252H|ENTPD1_ENST00000371205.4_Missense_Mutation_p.R240H|ENTPD1_ENST00000539125.1_Missense_Mutation_p.R102H NM_001164179.1|NM_001164182.1|NM_001776.5 NP_001157651.1|NP_001157654.1|NP_001767.3 P49961 ENTP1_HUMAN ectonucleoside triphosphate diphosphohydrolase 1 240 cell adhesion integral to plasma membrane ATP binding cervix(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(3)|prostate(1)|skin(1) 16 Colorectal(252;0.0821) Epithelial(162;1.31e-07)|all cancers(201;5.33e-06) CTGCAATTTCGCCTCTATGGC 0.488000 27 115 0 0 1 0 0 IKZF1 10320 broad.mit.edu 37 7 50444451 50444451 + Silent SNP C C T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr7:50444451C>T ENST00000331340.3 + 4 536 c.381C>T c.(379-381)atC>atT p.I127I IKZF1_ENST00000346667.4_Intron|IKZF1_ENST00000438033.1_Intron|IKZF1_ENST00000349824.4_Silent_p.I127I|IKZF1_ENST00000357364.4_Silent_p.I127I|IKZF1_ENST00000343574.5_Intron|IKZF1_ENST00000439701.1_Silent_p.I127I|IKZF1_ENST00000440768.2_Silent_p.I127I|IKZF1_ENST00000359197.5_Silent_p.I127I NM_001220769.1|NM_001220772.1|NM_001220773.1|NM_001220775.1|NM_006060.4 NP_001207698.1|NP_001207701.1|NP_001207702.1|NP_001207704.1|NP_006051.1 Q13422 IKZF1_HUMAN IKAROS family zinc finger 1 (Ikaros) 127 cell cycle|chromatin modification|mesoderm development cytoplasm|nucleus zinc ion binding p.?(131) haematopoietic_and_lymphoid_tissue(275)|lung(1) 276 Glioma(55;0.08)|all_neural(89;0.245) Acute lymphoblastic leukemia(4;7.29e-10)|all_hematologic(4;4.8e-07) TCATTTGCATCGGGCCCAATG 0.517000 """D,T""" BCL6 """ALL, DLBCL""" 7 38 0 0 1 0 0 ANK3 288 broad.mit.edu 37 10 61847989 61847989 + Silent SNP T T C TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr10:61847989T>C ENST00000280772.1 - 29 3647 c.3456A>G c.(3454-3456)ggA>ggG p.G1152G ANK3_ENST00000373827.2_Silent_p.G1146G|ANK3_ENST00000503366.1_Silent_p.G1153G|ANK3_ENST00000355288.2_Silent_p.G286G NM_020987.3 NP_066267.2 Q12955 ANK3_HUMAN ankyrin 3, node of Ranvier (ankyrin G) 1152 establishment of protein localization|signal transduction basolateral plasma membrane|cytoplasm|cytoskeleton protein binding NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7) 196 TGCTCAGAATTCCACCTTCAG 0.468000 24 117 0 0 1 0 0 POTEC 388468 broad.mit.edu 37 18 14513764 14513764 + Missense_Mutation SNP C C T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr18:14513764C>T ENST00000358970.5 - 10 1429 c.1430G>A c.(1429-1431)cGg>cAg p.R477Q NM_001137671.1 NP_001131143.1 B2RU33 POTEC_HUMAN POTE ankyrin domain family, member C 477 p.R477Q(12) NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3) 52 AAGTTGTTTCCGGGTATCATT 0.358000 5 72 0 0 1 0 0 PPP2R4 5524 broad.mit.edu 37 9 131891325 131891325 + Missense_Mutation SNP C C T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr9:131891325C>T ENST00000337738.1 + 5 650 c.383C>T c.(382-384)cCa>cTa p.P128L PPP2R4_ENST00000358994.4_Missense_Mutation_p.P93L|PPP2R4_ENST00000357197.4_Missense_Mutation_p.P64L|PPP2R4_ENST00000452489.2_Missense_Mutation_p.P128L|PPP2R4_ENST00000347048.4_Intron|PPP2R4_ENST00000348141.5_Missense_Mutation_p.P99L|PPP2R4_ENST00000393370.2_Missense_Mutation_p.P93L|PPP2R4_ENST00000355007.3_Intron NM_178001.2 NP_821068.1 Q15257 PTPA_HUMAN protein phosphatase 2A activator, regulatory subunit 4 128 ATP catabolic process|negative regulation of phosphoprotein phosphatase activity|negative regulation of protein dephosphorylation|positive regulation of apoptosis|positive regulation of phosphoprotein phosphatase activity|positive regulation of protein dephosphorylation calcium channel complex|cytoplasm|nucleus|protein phosphatase type 2A complex|soluble fraction ATP binding|peptidyl-prolyl cis-trans isomerase activity|protein heterodimerization activity|protein homodimerization activity|protein phosphatase 2A binding|protein phosphatase type 2A regulator activity|protein tyrosine phosphatase activator activity|receptor binding breast(3)|endometrium(1)|kidney(1)|lung(3)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1) 12 Medulloblastoma(224;0.235) UCEC - Uterine corpus endometrioid carcinoma (4;0.0178) GAGACTCCTCCAGTGGACCAG 0.547000 13 47 0 0 1 0 0 FAT2 2196 broad.mit.edu 37 5 150923154 150923154 + Missense_Mutation SNP G G A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr5:150923154G>A ENST00000261800.5 - 9 7546 c.7534C>T c.(7534-7536)Ccc>Tcc p.P2512S NM_001447.2 NP_001438.1 Q9NYQ8 FAT2_HUMAN FAT atypical cadherin 2 2512 Cadherin 22. epithelial cell migration|homophilic cell adhesion cell-cell adherens junction|integral to membrane|nucleus calcium ion binding NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1) 196 Medulloblastoma(196;0.0912)|all_hematologic(541;0.104) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) GTGCCATAGGGACCACTATCT 0.438000 42 147 0 0 1 0 0 PKD1 5310 broad.mit.edu 37 16 2162790 2162790 + Splice_Site SNP G G A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr16:2162790G>A ENST00000262304.4 - 13 3368 c.3161_splice c.e13+1 p.L1054_splice PKD1_ENST00000423118.1_Splice_Site_p.L1054_splice|RP11-304L19.4_ENST00000568795.1_RNA NM_001009944.2 NP_001009944.2 P98161 PKD1_HUMAN polycystic kidney disease 1 (autosomal dominant) 1054 PKD 5. calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway basolateral plasma membrane|integral to plasma membrane protein domain specific binding|sugar binding breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3) 72 GTCACTCACAGGAAGGCCACC 0.682000 6 25 0 0 1 0 0 OR5D18 219438 broad.mit.edu 37 11 55587703 55587703 + Silent SNP C C T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr11:55587703C>T ENST00000333976.4 + 1 618 c.598C>T c.(598-600)Cta>Tta p.L200L NM_001001952.1 NP_001001952.1 Q8NGL1 OR5DI_HUMAN olfactory receptor, family 5, subfamily D, member 18 200 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(2)|breast(1)|endometrium(3)|large_intestine(6)|lung(33)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 55 all_epithelial(135;0.208) CCAGTGGCTGCTATTCTTTCT 0.408000 29 112 0 0 1 0 0 LUC7L3 51747 broad.mit.edu 37 17 48823267 48823267 + Missense_Mutation SNP C C T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr17:48823267C>T ENST00000505658.1 + 8 1069 c.880C>T c.(880-882)Cgt>Tgt p.R294C LUC7L3_ENST00000544170.1_Missense_Mutation_p.R218C|LUC7L3_ENST00000240304.1_Missense_Mutation_p.R294C|LUC7L3_ENST00000393227.2_Missense_Mutation_p.R294C O95232 LC7L3_HUMAN LUC7-like 3 (S. cerevisiae) 294 Arg/Ser-rich. apoptosis|mRNA processing|response to stress|RNA splicing focal adhesion|nuclear speck DNA binding|mRNA binding|protein binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|prostate(1) 12 AAAGAGAAGTCGTTCACGAAG 0.473000 11 26 0 0 1 0 0 TMEM132A 54972 broad.mit.edu 37 11 60696363 60696363 + Missense_Mutation SNP G G A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr11:60696363G>A ENST00000005286.4 + 4 950 c.797G>A c.(796-798)cGg>cAg p.R266Q TMEM132A_ENST00000453848.2_Missense_Mutation_p.R266Q NM_017870.3|NM_178031.2 NP_060340.2|NP_821174.1 Q24JP5 T132A_HUMAN transmembrane protein 132A 266 endoplasmic reticulum membrane|Golgi membrane|integral to membrane breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|prostate(1)|skin(3) 32 ATGCCAGTGCGGCCCGGCCAG 0.672000 15 61 0 0 1 0 0 FAM65B 9750 broad.mit.edu 37 6 24848308 24848308 + Missense_Mutation SNP G G A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr6:24848308G>A ENST00000259698.4 - 12 1197 c.1022C>T c.(1021-1023)tCc>tTc p.S341F FAM65B_ENST00000510784.2_Missense_Mutation_p.S375F|FAM65B_ENST00000378023.4_Missense_Mutation_p.S341F|FAM65B_ENST00000540914.1_Missense_Mutation_p.S341F|FAM65B_ENST00000538035.1_Missense_Mutation_p.S370F NM_014722.2 NP_055537.2 Q9Y4F9 FA65B_HUMAN family with sequence similarity 65, member B 341 cell differentiation|muscle organ development cytoskeleton|filopodium|mitochondrion binding breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 25 GCTGTACATGGACATTCTCCT 0.527000 7 27 0 0 1 0 0 ITGA2B 3674 broad.mit.edu 37 17 42449740 42449740 + Missense_Mutation SNP C C T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr17:42449740C>T ENST00000262407.5 - 30 3143 c.3112G>A c.(3112-3114)Ggg>Agg p.G1038R ITGA2B_ENST00000353281.4_Missense_Mutation_p.G1004R NM_000419.3 NP_000410.2 P08514 ITA2B_HUMAN integrin, alpha 2b (platelet glycoprotein IIb of IIb/IIIa complex, antigen CD41) 1038 axon guidance|integrin-mediated signaling pathway|platelet activation|platelet degranulation integrin complex|platelet alpha granule membrane identical protein binding|receptor activity biliary_tract(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(8)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 36 Prostate(33;0.0181) BRCA - Breast invasive adenocarcinoma(366;0.191) Tirofiban(DB00775) CATCACTCCCCCTCTTCATCA 0.582000 5 28 0 0 1 0 0 BEST3 144453 broad.mit.edu 37 12 70048755 70048755 + Missense_Mutation SNP C C T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr12:70048755C>T ENST00000330891.5 - 10 2165 c.1939G>A c.(1939-1941)Gaa>Aaa p.E647K BEST3_ENST00000553096.1_Missense_Mutation_p.E541K|BEST3_ENST00000331471.4_Intron|BEST3_ENST00000488961.1_Missense_Mutation_p.E434K NM_032735.2 NP_116124.2 Q8N1M1 BEST3_HUMAN bestrophin 3 647 chloride channel complex|plasma membrane chloride channel activity cervix(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(2) 12 Breast(13;2.31e-06)|Esophageal squamous(21;0.187) Lung(24;0.000278)|OV - Ovarian serous cystadenocarcinoma(12;0.0019)|STAD - Stomach adenocarcinoma(21;0.00694) TCCAGGTTTTCCATTAAATAC 0.448000 8 41 0 0 1 0 0 KLK14 43847 broad.mit.edu 37 19 51582165 51582165 + Silent SNP G G A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr19:51582165G>A ENST00000391802.1 - 6 776 c.558C>T c.(556-558)tcC>tcT p.S186S KLK14_ENST00000156499.2_Silent_p.S186S NM_022046.4 NP_071329.2 Q9P0G3 KLK14_HUMAN kallikrein-related peptidase 14 186 Peptidase S1. epidermis morphogenesis|fertilization|negative regulation of G-protein coupled receptor protein signaling pathway|positive regulation of G-protein coupled receptor protein signaling pathway|proteolysis|seminal clot liquefaction extracellular space serine-type endopeptidase activity kidney(4)|large_intestine(1)|lung(4)|skin(1)|urinary_tract(1) 11 all_neural(266;0.0199) OV - Ovarian serous cystadenocarcinoma(262;0.00328)|GBM - Glioblastoma multiforme(134;0.00422) CCTCATCCGGGGAGATGTTGA 0.587000 58 161 0 0 1 0 0 GPR112 139378 broad.mit.edu 37 X 135431105 135431105 + Missense_Mutation SNP C C T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chrX:135431105C>T ENST00000394143.1 + 6 5531 c.5240C>T c.(5239-5241)cCt>cTt p.P1747L GPR112_ENST00000412101.1_Missense_Mutation_p.P1542L|GPR112_ENST00000394141.1_Missense_Mutation_p.P1542L|GPR112_ENST00000370652.1_Missense_Mutation_p.P1747L|GPR112_ENST00000287534.4_Missense_Mutation_p.P1684L NM_153834.3 NP_722576.3 Q8IZF6 GP112_HUMAN G protein-coupled receptor 112 1747 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2) 199 Acute lymphoblastic leukemia(192;0.000127) ATCACTGTTCCTGAAAATATG 0.428000 51 103 0 0 1 0 0 MALT1 10892 broad.mit.edu 37 18 56390483 56390483 + Splice_Site SNP G G A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr18:56390483G>A ENST00000348428.3 + 10 1480 c.1222_splice c.e10+1 p.G408_splice MALT1_ENST00000345724.3_Splice_Site_p.G397_splice|RP11-126O1.4_ENST00000588835.1_RNA NM_006785.2|NM_173844.1 NP_006776.1|NP_776216.1 Q9UDY8 MALT1_HUMAN mucosa associated lymphoid tissue lymphoma translocation gene 1 408 Caspase-like. activation of NF-kappaB-inducing kinase activity|anti-apoptosis|nuclear export|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-2 production|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphorylation|positive regulation of protein ubiquitination|positive regulation of T cell cytokine production|protein oligomerization|proteolysis|T cell receptor signaling pathway CBM complex|cytosol|nucleus|perinuclear region of cytoplasm cysteine-type endopeptidase activity|protein self-association|signal transducer activity|ubiquitin-protein ligase activity central_nervous_system(1)|large_intestine(7)|lung(1)|ovary(2)|skin(1) 12 GGGAGTATATGGTAAGATATT 0.303000 T BIRC3 MALT 7 39 0 0 1 0 0 XKR6 286046 broad.mit.edu 37 8 10755495 10755495 + Silent SNP G G A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr8:10755495G>A ENST00000416569.2 - 3 1919 c.1893C>T c.(1891-1893)ctC>ctT p.L631L XKR6_ENST00000304437.2_Silent_p.L352L NM_173683.3 NP_775954.2 Q5GH73 XKR6_HUMAN XK, Kell blood group complex subunit-related family, member 6 631 integral to membrane breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(8)|ovary(2)|prostate(1)|skin(3) 31 Lung(29;0.0407)|COAD - Colon adenocarcinoma(149;0.0555) GCAACTCATAGAGGAGTGGTC 0.453000 49 69 0 0 1 0 0 CEBPE 1053 broad.mit.edu 37 14 23588291 23588291 + Missense_Mutation SNP C C T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr14:23588291C>T ENST00000206513.5 - 1 534 c.10G>A c.(10-12)Ggg>Agg p.G4R NM_001805.3 NP_001796.2 Q15744 CEBPE_HUMAN CCAAT/enhancer binding protein (C/EBP), epsilon 4 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity large_intestine(2)|lung(3)|ovary(2)|prostate(1)|skin(1) 9 all_cancers(95;4.6e-05) GBM - Glioblastoma multiforme(265;0.0064) TAGTAGGTCCCGTGGGACATG 0.701000 8 12 0 0 1 0 0 MYH8 4626 broad.mit.edu 37 17 10295939 10295939 + Missense_Mutation SNP C C T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr17:10295939C>T ENST00000403437.2 - 38 5582 c.5488G>A c.(5488-5490)Gaa>Aaa p.E1830K CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA NM_002472.2 NP_002463.2 P13535 MYH8_HUMAN myosin, heavy chain 8, skeletal muscle, perinatal 1830 muscle filament sliding cytosol|muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2) 134 TGTTCATTTTCAACCTCTCCT 0.453000 Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling 39 151 0 0 1 0 0 ADRA1A 148 broad.mit.edu 37 8 26722384 26722384 + Missense_Mutation SNP C C T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr8:26722384C>T ENST00000380573.3 - 2 1126 c.103G>A c.(103-105)Ggc>Agc p.G35S ADRA1A_ENST00000380587.1_Missense_Mutation_p.G35S|ADRA1A_ENST00000276393.4_Missense_Mutation_p.G35S|ADRA1A_ENST00000358857.5_Missense_Mutation_p.G35S|ADRA1A_ENST00000380582.3_Missense_Mutation_p.G35S|ADRA1A_ENST00000380586.1_Missense_Mutation_p.G35S|ADRA1A_ENST00000519229.1_Missense_Mutation_p.G35S|ADRA1A_ENST00000380581.2_Missense_Mutation_p.G35S|ADRA1A_ENST00000354550.4_Missense_Mutation_p.G35S|ADRA1A_ENST00000380572.3_Missense_Mutation_p.G35S P35348 ADA1A_HUMAN adrenoceptor alpha 1A 35 activation of phospholipase C activity|aging|apoptosis|calcium ion transport into cytosol|cell-cell signaling|intracellular protein kinase cascade|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of synaptic transmission, GABAergic|positive regulation of action potential|positive regulation of cardiac muscle contraction|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein kinase C signaling cascade|positive regulation of vasoconstriction|response to drug|response to hormone stimulus|response to stress|smooth muscle contraction integral to plasma membrane alpha1-adrenergic receptor activity breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(17)|ovary(1)|prostate(1)|skin(1) 36 all_cancers(63;0.122)|Ovarian(32;2.61e-05)|all_epithelial(46;0.118) UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|Epithelial(17;4.92e-10)|Colorectal(74;0.0132)|READ - Rectum adenocarcinoma(644;0.115) Alfuzosin(DB00346)|Amiodarone(DB01118)|Amphetamine(DB00182)|Benzphetamine(DB00865)|Bethanidine(DB00217)|Carvedilol(DB01136)|Dapiprazole(DB00298)|Debrisoquin(DB04840)|Dextroamphetamine(DB01576)|Doxazosin(DB00590)|Epinastine(DB00751)|Epinephrine(DB00668)|Ergotamine(DB00696)|Flupenthixol(DB00875)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Labetalol(DB00598)|Lisdexamfetamine(DB01255)|Maprotiline(DB00934)|Mephentermine(DB01365)|Metaraminol(DB00610)|Methamphetamine(DB01577)|Methotrimeprazine(DB01403)|Methoxamine(DB00723)|Midodrine(DB00211)|Nefazodone(DB01149)|Nicergoline(DB00699)|Nilutamide(DB00665)|Norepinephrine(DB00368)|Norgestrel(DB00506)|Oxymetazoline(DB00935)|Perphenazine(DB00850)|Phendimetrazine(DB01579)|Phenoxybenzamine(DB00925)|Phenylephrine(DB00388)|Phenylpropanolamine(DB00397)|Prazosin(DB00457)|Promazine(DB00420)|Promethazine(DB01069)|Propericiazine(DB01608)|Propiomazine(DB00777)|Pseudoephedrine(DB00852)|Risperidone(DB00734)|Sertindole(DB06144)|Tamsulosin(DB00706)|Terazosin(DB01162)|Thioridazine(DB00679)|Tolazoline(DB00797)|Trazodone(DB00656)|Trifluoperazine(DB00831)|Ziprasidone(DB00246) AGAATGAGGCCCCCCAAGATC 0.567000 67 289 0 0 1 0 0 TRIM69 140691 broad.mit.edu 37 15 45050851 45050851 + Silent SNP C C T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr15:45050851C>T ENST00000559390.1 + 5 1540 c.612C>T c.(610-612)tcC>tcT p.S204S TRIM69_ENST00000560442.1_5'UTR|TRIM69_ENST00000561043.1_Intron|TRIM69_ENST00000558173.1_5'UTR|TRIM69_ENST00000338264.4_Silent_p.S45S|TRIM69_ENST00000329464.4_Silent_p.S204S|TRIM69_ENST00000558329.1_5'UTR Q86WT6 TRI69_HUMAN tripartite motif containing 69 204 apoptosis nuclear speck zinc ion binding cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(9)|skin(1) 20 all_cancers(109;2.47e-13)|all_epithelial(112;2.84e-11)|Lung NSC(122;2.23e-07)|all_lung(180;1.81e-06)|Melanoma(134;0.0122) all cancers(107;5.5e-19)|GBM - Glioblastoma multiforme(94;1.07e-06)|Colorectal(105;0.138)|COAD - Colon adenocarcinoma(120;0.141) AACATGTGTCCATGGAGTTTC 0.483000 16 42 0 0 1 0 0 CPA3 1359 broad.mit.edu 37 3 148600313 148600313 + Missense_Mutation SNP C C T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr3:148600313C>T ENST00000296046.3 + 8 761 c.709C>T c.(709-711)Cgt>Tgt p.R237C RP11-680B3.2_ENST00000488190.1_RNA NM_001870.2 NP_001861.2 P15088 CBPA3_HUMAN carboxypeptidase A3 (mast cell) 237 proteolysis stored secretory granule|transport vesicle metallocarboxypeptidase activity|zinc ion binding NS(1)|breast(3)|endometrium(1)|large_intestine(3)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(3) 35 LUSC - Lung squamous cell carcinoma(72;0.0934)|Lung(72;0.115) GAGAAAAAATCGTTCCAAGAA 0.383000 14 47 0 0 1 0 0 UBQLNL 143630 broad.mit.edu 37 11 5537408 5537408 + Silent SNP C C T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr11:5537408C>T ENST00000380184.1 - 1 527 c.264G>A c.(262-264)agG>agA p.R88R HBG2_ENST00000380259.2_Intron NM_145053.4 NP_659490.4 Q8IYU4 UBQLN_HUMAN ubiquilin-like 88 Ubiquitin-like. endometrium(1)|kidney(3)|large_intestine(9)|lung(13)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 33 Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212) Epithelial(150;1.92e-09)|BRCA - Breast invasive adenocarcinoma(625;0.136) CCATGATGCCCCTCTGGCTCA 0.527000 9 79 0 0 1 0 0 GPAA1 8733 broad.mit.edu 37 8 145138666 145138666 + Missense_Mutation SNP C C T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr8:145138666C>T ENST00000355091.4 + 4 537 c.416C>T c.(415-417)gCc>gTc p.A139V GPAA1_ENST00000527144.1_3'UTR|GPAA1_ENST00000361036.6_Missense_Mutation_p.A79V NM_003801.3 NP_003792.1 O43292 GPAA1_HUMAN glycosylphosphatidylinositol anchor attachment 1 139 attachment of GPI anchor to protein|C-terminal protein lipidation|protein complex assembly|protein retention in ER lumen GPI-anchor transamidase complex tubulin binding breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|upper_aerodigestive_tract(2) 19 all_cancers(97;2.87e-11)|all_epithelial(106;2.16e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.02e-40)|all cancers(56;2.11e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105) CCGCGTGCTGCCAGCACCGAG 0.652000 13 43 0 0 1 0 0 GPC4 2239 broad.mit.edu 37 X 132439895 132439895 + Missense_Mutation SNP G G A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chrX:132439895G>A ENST00000370828.3 - 6 1584 c.1060C>T c.(1060-1062)Cgt>Tgt p.R354C GPC4_ENST00000535467.1_Missense_Mutation_p.R284C NM_001448.2 NP_001439.2 O75487 GPC4_HUMAN glypican 4 354 anatomical structure morphogenesis|cell proliferation anchored to membrane|external side of plasma membrane|extracellular space|insoluble fraction|integral to plasma membrane|proteinaceous extracellular matrix heparan sulfate proteoglycan binding breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(16)|skin(1)|upper_aerodigestive_tract(1) 28 Acute lymphoblastic leukemia(192;0.000127) GAGATGGAACGAGAAATTCGT 0.562000 82 172 0 0 1 0 0 PPFIA4 8497 broad.mit.edu 37 1 203017437 203017437 + Splice_Site SNP G G A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr1:203017437G>A ENST00000367240.2 + 10 1750 c.1224_splice c.e10+1 p.R408_splice PPFIA4_ENST00000447715.2_Splice_Site_p.R408_splice|PPFIA4_ENST00000295706.4_5'UTR|PPFIA4_ENST00000414050.2_Splice_Site_p.R115_splice O75335 LIPA4_HUMAN protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 4 104 SAM 1. cell communication cell surface|cytoplasm protein binding NS(1)|autonomic_ganglia(1)|breast(3)|endometrium(6)|kidney(2)|large_intestine(8)|lung(20)|ovary(4)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 50 GAGCTGGCACGGGTGAGGGCA 0.687000 14 19 0 0 1 0 0 APLP2 334 broad.mit.edu 37 11 130013326 130013326 + Missense_Mutation SNP G G A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr11:130013326G>A ENST00000263574.5 + 18 2347 c.2275G>A c.(2275-2277)Gag>Aag p.E759K APLP2_ENST00000338167.5_Missense_Mutation_p.E747K|APLP2_ENST00000539648.1_Missense_Mutation_p.E547K|APLP2_ENST00000543137.1_Missense_Mutation_p.E654K|APLP2_ENST00000528499.1_Missense_Mutation_p.E691K|APLP2_ENST00000278756.7_Missense_Mutation_p.E757K|APLP2_ENST00000345598.5_Missense_Mutation_p.E518K NM_001642.2 NP_001633.1 Q06481 APLP2_HUMAN amyloid beta (A4) precursor-like protein 2 759 G-protein coupled receptor protein signaling pathway integral to membrane|nucleus|plasma membrane DNA binding|identical protein binding|serine-type endopeptidase inhibitor activity NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(6)|ovary(4)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 31 all_hematologic(175;0.0429) Breast(109;0.00586)|Lung NSC(97;0.00785)|all_lung(97;0.0154)|Medulloblastoma(222;0.0523)|all_neural(223;0.186) OV - Ovarian serous cystadenocarcinoma(99;0.0197)|Lung(977;0.24) CAAATACCTGGAGCAGATGCA 0.567000 26 77 0 0 1 0 0 CSRNP3 80034 broad.mit.edu 37 2 166535800 166535800 + Missense_Mutation SNP C C T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr2:166535800C>T ENST00000314499.7 + 7 1671 c.1295C>T c.(1294-1296)tCt>tTt p.S432F CSRNP3_ENST00000409420.1_Missense_Mutation_p.S464F|CSRNP3_ENST00000342316.4_Missense_Mutation_p.S432F NM_001172173.1 NP_001165644.1 Q8WYN3 CSRN3_HUMAN cysteine-serine-rich nuclear protein 3 432 apoptosis|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter nucleus DNA binding|sequence-specific DNA binding transcription factor activity breast(2)|cervix(1)|endometrium(1)|large_intestine(9)|lung(15)|ovary(3)|skin(2) 33 TATGCCAACTCTTCAACTCTG 0.423000 46 118 0 0 1 0 0 TNFRSF17 608 broad.mit.edu 37 16 12061681 12061681 + Missense_Mutation SNP G G A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr16:12061681G>A ENST00000053243.1 + 3 750 c.532G>A c.(532-534)Gag>Aag p.E178K TNFRSF17_ENST00000396495.3_Missense_Mutation_p.E129K|RP11-166B2.1_ENST00000532936.1_Intron NM_001192.2 NP_001183.2 Q02223 TNR17_HUMAN tumor necrosis factor receptor superfamily, member 17 178 cell proliferation|multicellular organismal development endomembrane system|integral to membrane|plasma membrane large_intestine(3)|lung(3) 6 TACGGAGATAGAGAAATCAAT 0.433000 T IL2 intestinal T-cell lymphoma 16 55 0 0 1 0 0 MICAL3 57553 broad.mit.edu 37 22 18273570 18273570 + Silent SNP G G A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr22:18273570G>A ENST00000441493.2 - 32 6289 c.5937C>T c.(5935-5937)ctC>ctT p.L1979L XXbac-B461K10.4_ENST00000476405.1_RNA NM_015241.2 NP_056056.2 Q7RTP6 MICA3_HUMAN microtubule associated monooxygenase, calponin and LIM domain containing 3 1979 cytoplasm|cytoskeleton monooxygenase activity|zinc ion binding large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 4 all_epithelial(15;0.198) Lung(27;0.0427) CTCTCTCCCGGAGCCGCTGCT 0.582000 7 26 0 0 1 0 0 CHD8 57680 broad.mit.edu 37 14 21871732 21871732 + Missense_Mutation SNP C C T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr14:21871732C>T ENST00000399982.2 - 16 3462 c.3398G>A c.(3397-3399)gGc>gAc p.G1133D CHD8_ENST00000430710.3_Missense_Mutation_p.G854D|CHD8_ENST00000555962.1_Intron|CHD8_ENST00000557364.1_Missense_Mutation_p.G1133D NM_001170629.1 NP_001164100.1 Q9HCK8 CHD8_HUMAN chromodomain helicase DNA binding protein 8 1133 ATP-dependent chromatin remodeling|canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent MLL1 complex ATP binding|beta-catenin binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity|methylated histone residue binding|p53 binding NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(33)|ovary(6)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 85 all_cancers(95;0.00121) Epithelial(56;2.55e-06)|all cancers(55;1.73e-05) GBM - Glioblastoma multiforme(265;0.00424) AACCAGTTTGCCGGCTGAACG 0.458000 3 21 0 0 1 0 0 GRIN2B 2904 broad.mit.edu 37 12 13906821 13906821 + Missense_Mutation SNP C C T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr12:13906821C>T ENST00000279593.3 - 3 649 c.440G>A c.(439-441)gGc>gAc p.G147D NM_000834.3 NP_000825.2 Q13224 NMDE2_HUMAN glutamate receptor, ionotropic, N-methyl D-aspartate 2B 147 response to ethanol cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1) 143 Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043) AATTGATGGGCCAAACTGGAA 0.393000 16 56 0 0 1 0 0 MYH6 4624 broad.mit.edu 37 14 23874460 23874460 + Silent SNP G G A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr14:23874460G>A ENST00000405093.3 - 5 544 c.474C>T c.(472-474)tcC>tcT p.S158S MYH6_ENST00000356287.3_Silent_p.S158S NM_002471.3 NP_002462.2 P13533 MYH6_HUMAN myosin, heavy chain 6, cardiac muscle, alpha 158 Myosin head-like. adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2) 119 all_cancers(95;2.54e-05) GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441) AGGCGTTGTCGGAGATGGAGA 0.622000 59 129 0 0 1 0 0 TRAV23DV6 28660 broad.mit.edu 37 14 22554979 22554979 + RNA SNP T T A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr14:22554979T>A ENST00000390451.2 + 0 150 TGAAACAAAGTCCTCAATCTT 0.408000 9 32 0 0 1 0 0 CSMD2 114784 broad.mit.edu 37 1 34080130 34080130 + Nonsense_Mutation SNP C C T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr1:34080130C>T ENST00000373381.4 - 40 6283 c.6107G>A c.(6106-6108)tGg>tAg p.W2036* CSMD2_ENST00000373377.1_Nonsense_Mutation_p.W135*|CSMD2_ENST00000373380.1_Nonsense_Mutation_p.W909*|CSMD2_ENST00000373388.2_Nonsense_Mutation_p.W135* NM_052896.3 NP_443128.2 Q7Z408 CSMD2_HUMAN CUB and Sushi multiple domains 2 1996 CUB 12. integral to membrane|plasma membrane protein binding NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1) 246 Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249) TGCTATTTTCCAGGAGCAGTC 0.567000 12 17 0 0 1 0 0 OR7D4 125958 broad.mit.edu 37 19 9325379 9325379 + Silent SNP G G A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr19:9325379G>A ENST00000308682.2 - 1 163 c.135C>T c.(133-135)atC>atT p.I45I NM_001005191.2 NP_001005191.1 Q8NG98 OR7D4_HUMAN olfactory receptor, family 7, subfamily D, member 4 45 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)|skin(3)|stomach(1) 26 CGGCCAGAATGATGAGCAGGT 0.552000 25 114 0 0 1 0 0 GRB14 2888 broad.mit.edu 37 2 165353893 165353893 + Silent SNP G G A rs147507583 byFrequency TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr2:165353893G>A ENST00000263915.3 - 10 1750 c.1212C>T c.(1210-1212)ctC>ctT p.L404L GRB14_ENST00000543549.1_Silent_p.L317L NM_004490.2 NP_004481.2 Q14449 GRB14_HUMAN growth factor receptor-bound protein 14 404 blood coagulation|leukocyte migration cytosol|endosome membrane|Golgi membrane|microsome|plasma membrane SH3/SH2 adaptor activity breast(3)|endometrium(2)|large_intestine(6)|lung(10)|ovary(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 32 CCCTCCAAGCGAGTCCTTCTT 0.408000 29 125 0 0 1 0 0 FAM151B 167555 broad.mit.edu 37 5 79837533 79837533 + Missense_Mutation SNP C C T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr5:79837533C>T ENST00000282226.4 + 6 868 c.713C>T c.(712-714)tCc>tTc p.S238F FAM151B_ENST00000511718.1_3'UTR NM_205548.2 NP_991111.2 Q6UXP7 F151B_HUMAN family with sequence similarity 151, member B 238 breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1) 7 Lung NSC(167;0.0427)|all_lung(232;0.0464)|Ovarian(174;0.113) OV - Ovarian serous cystadenocarcinoma(54;8.21e-47)|Epithelial(54;8.3e-42)|all cancers(79;1.97e-36) GATAACTATTCCGTTGAAGAT 0.328000 5 28 0 0 1 0 0 XIST 7503 broad.mit.edu 37 X 73066348 73066348 + RNA SNP G G A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chrX:73066348G>A ENST00000429829.1 - 0 6240 NR_001564.2 ATTGCAAAAGGGGTCGGAGAG 0.453000 34 83 0 0 1 0 0 SIK1 150094 broad.mit.edu 37 21 44840966 44840966 + Silent SNP G G A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr21:44840966G>A ENST00000270162.6 - 7 804 c.672C>T c.(670-672)ttC>ttT p.F224F NM_173354.3 NP_775490.2 P57059 SIK1_HUMAN salt-inducible kinase 1 224 Protein kinase. anoikis|cell cycle|cell differentiation|intracellular protein kinase cascade|multicellular organismal development|regulation of cell differentiation|regulation of mitotic cell cycle nucleus ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(2)|testis(2)|urinary_tract(1) 21 TAGGCCCATCGAAGGGGAGAG 0.652000 5 26 0 0 1 0 0 ZNF599 148103 broad.mit.edu 37 19 35251304 35251304 + Missense_Mutation SNP G G C TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr19:35251304G>C ENST00000329285.7 - 4 775 c.402C>G c.(400-402)aaC>aaG p.N134K NM_001007248.2 NP_001007249.1 Q96NL3 ZN599_HUMAN zinc finger protein 599 134 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(3)|large_intestine(10)|lung(8)|ovary(1)|pancreas(1)|skin(1) 24 all_lung(56;1.13e-07)|Lung NSC(56;1.81e-07)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.138) CTGGCCTCAAGTTCCCTTCCT 0.443000 24 144 0 0 1 0 0 WISP1 8840 broad.mit.edu 37 8 134232920 134232920 + Missense_Mutation SNP G G A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr8:134232920G>A ENST00000250160.6 + 3 552 c.446G>A c.(445-447)gGc>gAc p.G149D WISP1_ENST00000377863.2_Intron|WISP1_ENST00000220856.6_Intron|WISP1_ENST00000517423.1_Intron|WISP1_ENST00000519433.1_Intron NM_003882.3 NP_003873.1 O95388 WISP1_HUMAN WNT1 inducible signaling pathway protein 1 149 VWFC. cell adhesion|cell-cell signaling|regulation of cell growth|Wnt receptor signaling pathway extracellular region|soluble fraction insulin-like growth factor binding central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 21 all_epithelial(106;5.39e-23)|Lung NSC(106;7.26e-07)|all_lung(105;2.77e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0107) TGCATCGACGGCGCGGTGGGC 0.672000 14 95 0 0 1 0 0 VWA9 81556 broad.mit.edu 37 15 65877212 65877212 + Missense_Mutation SNP G G A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr15:65877212G>A ENST00000395644.4 - 10 1470 c.1135C>T c.(1135-1137)Cct>Tct p.P379S VWA9_ENST00000567744.1_Missense_Mutation_p.P415S|VWA9_ENST00000313182.2_Missense_Mutation_p.P379S|VWA9_ENST00000569491.1_Missense_Mutation_p.P329S|VWA9_ENST00000569180.1_5'UTR|VWA9_ENST00000442903.3_Missense_Mutation_p.P343S|VWA9_ENST00000431261.2_Missense_Mutation_p.P300S|VWA9_ENST00000420799.2_Missense_Mutation_p.P322S von Willebrand factor A domain containing 9 TCGCCATAAGGGTTTTCTTTA 0.413000 8 25 0 0 1 0 0 VWA8 23078 broad.mit.edu 37 13 42277461 42277461 + Missense_Mutation SNP T T C TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr13:42277461T>C ENST00000379310.3 - 27 3271 c.3203A>G c.(3202-3204)gAa>gGa p.E1068G NM_015058.1 NP_055873.1 von Willebrand factor A domain containing 8 ATGATGAGTTTCCACTGGACA 0.373000 10 54 0 0 1 0 0 ARMC9 80210 broad.mit.edu 37 2 232087527 232087527 + Silent SNP A A G TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr2:232087527A>G ENST00000349938.4 + 6 785 c.591A>G c.(589-591)acA>acG p.T197T ARMC9_ENST00000483477.1_3'UTR NM_001271466.1|NM_025139.3 NP_001258395.1|NP_079415.3 Q7Z3E5 ARMC9_HUMAN armadillo repeat containing 9 197 binding endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(5)|ovary(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 22 Renal(207;0.0112)|all_lung(227;0.0744)|all_hematologic(139;0.0749)|Acute lymphoblastic leukemia(138;0.167)|Medulloblastoma(418;0.184)|Lung NSC(271;0.205) Epithelial(121;1.43e-10)|LUSC - Lung squamous cell carcinoma(224;0.017)|Lung(119;0.0189) AGCTTTTAACAATATATGTAT 0.363000 8 38 0 0 1 0 0 IP6K3 117283 broad.mit.edu 37 6 33690964 33690964 + Splice_Site SNP C C T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr6:33690964C>T ENST00000451316.1 - 7 1301 c.765_splice c.e7-1 p.V256_splice IP6K3_ENST00000293756.4_Splice_Site_p.V256_splice NM_001142883.1 NP_001136355.1 Q96PC2 IP6K3_HUMAN inositol hexakisphosphate kinase 3 256 inositol phosphate biosynthetic process|phosphatidylinositol metabolic process|protein phosphorylation cytoplasm ATP binding|inositol hexakisphosphate 5-kinase activity|inositol hexakisphosphate 6-kinase activity|inositol trisphosphate 3-kinase activity skin(1) 1 GTTTGATAAACCTTACATTAA 0.358000 8 33 0 0 1 0 0 ANKFN1 162282 broad.mit.edu 37 17 54520229 54520229 + Missense_Mutation SNP C C T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr17:54520229C>T ENST00000566473.2 + 9 1043 c.1043C>T c.(1042-1044)tCg>tTg p.S348L ANKFN1_ENST00000318698.2_Missense_Mutation_p.S348L Q8N957 ANKF1_HUMAN ankyrin-repeat and fibronectin type III domain containing 1 348 Fibronectin type-III. NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(11)|lung(27)|ovary(1)|prostate(1)|skin(1) 53 GTTCAAGTCTCGGCTTACAAT 0.438000 12 63 0 0 1 0 0 DNAH3 55567 broad.mit.edu 37 16 21073827 21073827 + Silent SNP C C T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr16:21073827C>T ENST00000261383.3 - 25 3695 c.3696G>A c.(3694-3696)caG>caA p.Q1232Q DNAH3_ENST00000415178.1_Silent_p.Q1232Q NM_017539.1 NP_060009.1 Q8TD57 DYH3_HUMAN dynein, axonemal, heavy chain 3 1232 Stem (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6) 202 GBM - Glioblastoma multiforme(48;0.207) GGTAGATTTTCTGTATGAATG 0.413000 28 95 0 0 1 0 0 SIRT5 23408 broad.mit.edu 37 6 13592122 13592122 + Silent SNP C C T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr6:13592122C>T ENST00000606117.1 + 5 767 c.471C>T c.(469-471)atC>atT p.I157I SIRT5_ENST00000379262.4_Silent_p.I157I|SIRT5_ENST00000359782.3_Silent_p.I157I|SIRT5_ENST00000397350.2_Silent_p.I49I NM_012241.4 NP_036373.1 Q9NXA8 SIRT5_HUMAN sirtuin 5 157 Deacetylase sirtuin-type. chromatin silencing|protein ADP-ribosylation|protein deacetylation mitochondrial intermembrane space|mitochondrial matrix hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in linear amides|NAD+ ADP-ribosyltransferase activity|NAD+ binding|zinc ion binding breast(1)|endometrium(1)|large_intestine(3)|lung(1)|ovary(1)|skin(3)|upper_aerodigestive_tract(1) 11 Breast(50;0.00669)|Ovarian(93;0.0634) all_hematologic(90;0.117) Epithelial(50;0.176) Suramin(DB04786) TTCTGGAGATCCATGGTGAGA 0.597000 6 24 0 0 1 0 0 SLITRK4 139065 broad.mit.edu 37 X 142716798 142716798 + Silent SNP G G A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chrX:142716798G>A ENST00000381779.4 - 2 2352 c.2127C>T c.(2125-2127)ttC>ttT p.F709F SLITRK4_ENST00000356928.1_Silent_p.F709F|SLITRK4_ENST00000338017.4_Silent_p.F709F NM_001184749.1|NM_001184750.1|NM_173078.3 NP_001171678.1|NP_001171679.1|NP_775101.1 Q8IW52 SLIK4_HUMAN SLIT and NTRK-like family, member 4 709 integral to membrane autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(27)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(2) 60 Acute lymphoblastic leukemia(192;6.56e-05) CTGAAAACATGAACCCAGTTT 0.408000 42 87 0 0 1 0 0 PAAF1 80227 broad.mit.edu 37 11 73620448 73620448 + Silent SNP C C T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr11:73620448C>T ENST00000544909.1 + 5 797 c.540C>T c.(538-540)atC>atT p.I180I PAAF1_ENST00000376384.5_Silent_p.I162I|PAAF1_ENST00000541951.1_Silent_p.I64I|PAAF1_ENST00000310571.3_Silent_p.I179I|PAAF1_ENST00000536003.1_Silent_p.I162I|PAAF1_ENST00000535604.1_Silent_p.I64I|PAAF1_ENST00000544552.1_Silent_p.I162I Q9BRP4 PAAF1_HUMAN proteasomal ATPase-associated factor 1 179 interspecies interaction between organisms proteasome complex protein binding breast(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 24 Breast(11;7.42e-05) TGCTAGGTATCCTGGATACAG 0.512000 22 65 0 0 1 0 0 SAMD7 344658 broad.mit.edu 37 3 169654229 169654229 + Nonsense_Mutation SNP C C T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr3:169654229C>T ENST00000428432.2 + 8 1533 c.1144C>T c.(1144-1146)Cag>Tag p.Q382* SAMD7_ENST00000335556.3_Nonsense_Mutation_p.Q382* NM_182610.2 NP_872416.1 Q7Z3H4 SAMD7_HUMAN sterile alpha motif domain containing 7 382 SAM. NS(1)|biliary_tract(1)|breast(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 31 all_cancers(22;1.55e-22)|all_epithelial(15;2.41e-27)|all_lung(20;3.52e-17)|Lung NSC(18;1.44e-16)|Ovarian(172;0.000337)|Breast(254;0.169) Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0106) ACTAAAAATTCAGTCACAGGT 0.318000 15 54 0 0 1 0 0 ATP13A2 23400 broad.mit.edu 37 1 17326973 17326973 + Silent SNP G G A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr1:17326973G>A ENST00000452699.1 - 9 936 c.747C>T c.(745-747)gaC>gaT p.D249D RP1-37C10.3_ENST00000446261.1_RNA|ATP13A2_ENST00000341676.5_Silent_p.D249D|ATP13A2_ENST00000326735.8_Silent_p.D254D NM_001141973.1|NM_022089.2 NP_001135445.1|NP_071372.1 Q9NQ11 AT132_HUMAN ATPase type 13A2 254 ATP biosynthetic process|cation transport integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(11)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 32 Colorectal(325;0.000147)|Breast(348;0.00104)|Renal(390;0.00145)|Lung NSC(340;0.00566)|all_lung(284;0.00797)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646) UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|COAD - Colon adenocarcinoma(227;1.11e-05)|BRCA - Breast invasive adenocarcinoma(304;1.99e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.182) AGTAGTAGTGGTCAGCCAGCC 0.617000 19 15 0 0 1 0 0 SEC14L2 23541 broad.mit.edu 37 22 30812280 30812280 + Silent SNP G G A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr22:30812280G>A ENST00000312932.9 + 11 1229 c.969G>A c.(967-969)aaG>aaA p.K323K SEC14L2_ENST00000403484.1_Silent_p.K249K|SEC14L2_ENST00000405717.3_Silent_p.K323K|RP4-539M6.19_ENST00000439838.1_Silent_p.K157K|SEC14L2_ENST00000402592.3_Silent_p.K240K NM_012429.3 NP_036561.1 O76054 S14L2_HUMAN SEC14-like 2 (S. cerevisiae) 323 GOLD. positive regulation of transcription, DNA-dependent|transcription, DNA-dependent integral to membrane|nucleus phospholipid binding|transporter activity|vitamin E binding haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|urinary_tract(1) 10 Vitamin E(DB00163) TGAAGACCAAGATGGGAGAGA 0.537000 11 58 0 0 1 0 0 EN1 2019 broad.mit.edu 37 2 119604321 119604321 + Silent SNP C C G TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr2:119604321C>G ENST00000295206.6 - 1 933 c.423G>C c.(421-423)cgG>cgC p.R141R NM_001426.3 NP_001417.3 Q05925 HME1_HUMAN engrailed homeobox 1 141 skeletal system development nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity endometrium(1)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(1) 9 CACGCTCGACCCGGCCTCCTC 0.706000 4 34 0 0 1 0 0 CDH22 64405 broad.mit.edu 37 20 44845478 44845478 + Silent SNP G G A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr20:44845478G>A ENST00000372262.3 - 4 1225 c.825C>T c.(823-825)ccC>ccT p.P275P CDH22_ENST00000537909.1_Silent_p.P275P|CDH22_ENST00000474438.1_5'UTR NM_021248.1 NP_067071.1 Q9UJ99 CAD22_HUMAN cadherin 22, type 2 275 Cadherin 2. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding endometrium(3)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3) 44 Myeloproliferative disorder(115;0.0122) GCGGGAAACGGGGCGGGTTGT 0.612000 19 93 0 0 1 0 0 MSR1 4481 broad.mit.edu 37 8 16001121 16001121 + Splice_Site SNP C C T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr8:16001121C>T ENST00000350896.3 - 8 1177 c.e8-1 MSR1_ENST00000445506.2_Splice_Site|MSR1_ENST00000262101.5_Splice_Site|MSR1_ENST00000355282.2_Splice_Site|MSR1_ENST00000381998.4_Splice_Site|MSR1_ENST00000536385.1_Splice_Site NM_138715.2|NM_138716.2 NP_619729.1|NP_619730.1 P21757 MSRE_HUMAN macrophage scavenger receptor 1 cholesterol transport|plasma lipoprotein particle clearance|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis collagen|integral to plasma membrane|low-density lipoprotein particle low-density lipoprotein particle binding|protein binding|scavenger receptor activity haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(7)|lung(14)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 37 Colorectal(111;0.00475)|COAD - Colon adenocarcinoma(73;0.0164) CCAGAATTTCCTTGAGAAAAG 0.313000 32 45 0 0 1 0 0 MYO18B 84700 broad.mit.edu 37 22 26228956 26228956 + Missense_Mutation SNP C C T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr22:26228956C>T ENST00000335473.7 + 16 3302 c.3052C>T c.(3052-3054)Ccc>Tcc p.P1018S MYO18B_ENST00000536101.1_Missense_Mutation_p.P1018S|MYO18B_ENST00000407587.2_Missense_Mutation_p.P1018S NM_032608.5 NP_115997.5 Q8IUG5 MY18B_HUMAN myosin XVIIIB 1018 Myosin head-like. nucleus|sarcomere|unconventional myosin complex actin binding|ATP binding|motor activity NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2) 146 GGATCAAAATCCCTCTCAGGT 0.502000 9 57 0 0 1 0 0 ZNF80 7634 broad.mit.edu 37 3 113955735 113955735 + Missense_Mutation SNP G G A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr3:113955735G>A ENST00000482457.2 - 1 690 c.187C>T c.(187-189)Ctc>Ttc p.L63F NM_007136.3 NP_009067.2 P51504 ZNF80_HUMAN zinc finger protein 80 63 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|endometrium(1)|large_intestine(9)|lung(15)|ovary(2)|prostate(2)|urinary_tract(2) 32 Lung NSC(201;0.0233)|all_neural(597;0.0837) CGAACAAGGAGGCTGTTTTTG 0.483000 15 61 0 0 1 0 0 MBL1P 8512 broad.mit.edu 37 10 81680768 81680768 + RNA SNP G G A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr10:81680768G>A ENST00000480805.1 + 0 835 NR_002724.2 GGAAACACAGGGACTTCTGGA 0.597000 5 11 0 0 1 0 0 DNAH5 1767 broad.mit.edu 37 5 13737583 13737583 + Missense_Mutation SNP G G A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr5:13737583G>A ENST00000265104.4 - 66 11337 c.11233C>T c.(11233-11235)Cat>Tat p.H3745Y NM_001369.2 NP_001360.1 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 3745 AAA 5 (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) TCCATCAGATGAGTTCTTTCT 0.373000 Kartagener syndrome 14 44 0 0 1 0 0 ANKRD24 170961 broad.mit.edu 37 19 4217071 4217071 + Missense_Mutation SNP G G A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr19:4217071G>A ENST00000600132.1 + 18 2190 c.1914G>A c.(1912-1914)atG>atA p.M638I ANKRD24_ENST00000262970.5_Missense_Mutation_p.M728I|ANKRD24_ENST00000318934.4_Missense_Mutation_p.M638I NM_133475.1 NP_597732.1 Q8TF21 ANR24_HUMAN ankyrin repeat domain 24 638 endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1) 21 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0233)|STAD - Stomach adenocarcinoma(1328;0.181) TGGAGGCCATGGGGGTGGAGG 0.557000 12 39 0 0 1 0 0 PLCB2 5330 broad.mit.edu 37 15 40599815 40599815 + Missense_Mutation SNP C C T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr15:40599815C>T ENST00000260402.3 - 1 308 c.59G>A c.(58-60)gGg>gAg p.G20E PLCB2_ENST00000543785.2_Missense_Mutation_p.G20E|PLCB2_ENST00000557821.1_Missense_Mutation_p.G20E|PLCB2_ENST00000456256.2_Missense_Mutation_p.G20E NM_004573.2 NP_004564.2 Q00722 PLCB2_HUMAN phospholipase C, beta 2 20 activation of phospholipase C activity|intracellular signal transduction|lipid catabolic process|phospholipid metabolic process|synaptic transmission cytosol calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(4)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(3) 39 all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117) GBM - Glioblastoma multiforme(113;9.38e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0508) GAAGCGCTCCCCTTGGCTCAG 0.607000 10 32 0 0 1 0 0 IL1R1 3554 broad.mit.edu 37 2 102791117 102791117 + Silent SNP C C T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr2:102791117C>T ENST00000410023.1 + 10 1380 c.1062C>T c.(1060-1062)ttC>ttT p.F354F IL1R1_ENST00000233946.3_Silent_p.F354F|AC007271.3_ENST00000428188.1_RNA|IL1R1_ENST00000409288.1_Silent_p.F354F|IL1R1_ENST00000409929.1_Silent_p.F354F|IL1R1_ENST00000409589.1_Intron|IL1R1_ENST00000409329.1_Silent_p.F354F|IL1R1_ENST00000424272.1_Silent_p.F354F P14778 IL1R1_HUMAN interleukin 1 receptor, type I 354 innate immune response integral to plasma membrane interleukin-1, Type I, activating receptor activity|platelet-derived growth factor receptor binding breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|prostate(2)|skin(3) 19 Anakinra(DB00026) GTTCTGTTTTCATCTATAAAA 0.323000 20 49 0 0 1 0 0 DNAJC2 27000 broad.mit.edu 37 7 102967028 102967028 + Silent SNP G G A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr7:102967028G>A ENST00000379263.3 - 5 784 c.534C>T c.(532-534)ttC>ttT p.F178F PMPCB_ENST00000420236.2_Intron|DNAJC2_ENST00000249270.7_Silent_p.F178F NM_014377.1 NP_055192.1 Q99543 DNJC2_HUMAN DnaJ (Hsp40) homolog, subfamily C, member 2 178 ZRF1-UBD. 'de novo' cotranslational protein folding|chromatin modification|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cytosol|nuclear membrane chromatin binding|DNA binding|histone binding|Hsp70 protein binding|ubiquitin binding endometrium(1)|kidney(9)|large_intestine(6)|lung(4)|ovary(1) 21 ACACTTCGAAGAAATTATCCT 0.378000 11 64 0 0 1 0 0 IMPG2 50939 broad.mit.edu 37 3 100963506 100963506 + Missense_Mutation SNP A A C TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr3:100963506A>C ENST00000193391.7 - 13 1856 c.1669T>G c.(1669-1671)Tct>Gct p.S557A NM_016247.3 NP_057331.2 Q9BZV3 IMPG2_HUMAN interphotoreceptor matrix proteoglycan 2 557 visual perception integral to membrane|proteinaceous extracellular matrix extracellular matrix structural constituent|heparin binding|hyaluronic acid binding|receptor activity NS(1)|breast(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(14)|lung(32)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 64 TATGGTGAAGATGTTAAGGAC 0.408000 40 122 0 0 1 0 0 CCDC141 285025 broad.mit.edu 37 2 179710443 179710443 + Silent SNP C C T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr2:179710443C>T ENST00000420890.2 - 22 3501 c.3384G>A c.(3382-3384)ccG>ccA p.P1128P CCDC141_ENST00000295723.5_Silent_p.P553P|CCDC141_ENST00000480419.1_5'UTR NM_173648.3 NP_775919.3 Q6ZP82 CC141_HUMAN coiled-coil domain containing 141 553 protein binding NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(37)|ovary(8)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1) 78 OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147) CTTCCAAATTCGGATTCATCT 0.368000 18 38 0 0 1 0 0 ZNF546 339327 broad.mit.edu 37 19 40519997 40519997 + Missense_Mutation SNP G G A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr19:40519997G>A ENST00000347077.4 + 7 1036 c.820G>A c.(820-822)Gaa>Aaa p.E274K ZNF546_ENST00000596894.1_Intron|ZNF546_ENST00000600094.1_Missense_Mutation_p.E248K NM_178544.3 NP_848639.2 Q86UE3 ZN546_HUMAN zinc finger protein 546 274 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(15)|lung(6)|ovary(3)|skin(2)|upper_aerodigestive_tract(3) 34 all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925) GAGACCCTATGAATGTAAAGA 0.438000 36 118 0 0 1 0 0 ABAT 18 broad.mit.edu 37 16 8839939 8839939 + Missense_Mutation SNP C C T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr16:8839939C>T ENST00000396600.2 + 3 1090 c.152C>T c.(151-153)cCa>cTa p.P51L ABAT_ENST00000569156.1_Missense_Mutation_p.P51L|ABAT_ENST00000268251.8_Missense_Mutation_p.P51L|ABAT_ENST00000567812.1_Missense_Mutation_p.P66L|ABAT_ENST00000425191.2_Missense_Mutation_p.P51L NM_000663.4 NP_000654.2 P80404 GABT_HUMAN 4-aminobutyrate aminotransferase 51 behavioral response to cocaine|gamma-aminobutyric acid catabolic process|neurotransmitter catabolic process|neurotransmitter secretion 4-aminobutyrate transaminase complex|mitochondrial matrix (S)-3-amino-2-methylpropionate transaminase activity|4-aminobutyrate transaminase activity|protein homodimerization activity|pyridoxal phosphate binding|succinate-semialdehyde dehydrogenase binding breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|skin(3)|upper_aerodigestive_tract(2) 26 Divalproex sodium(DB00510)|Isoniazid(DB00951)|L-Alanine(DB00160)|L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)|Pyruvic acid(DB00119)|Tiagabine(DB00906)|Valproic Acid(DB00313)|Vigabatrin(DB01080) ACGGAAGTCCCAGGGCCTAGA 0.483000 13 38 0 0 1 0 0 TRAV26-2 28656 broad.mit.edu 37 14 22671117 22671117 + RNA SNP C C T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr14:22671117C>T ENST00000390460.1 + 0 182 TCCCAGGGTCCAGAGTACGTG 0.478000 13 39 0 0 1 0 0 ARHGEF40 55701 broad.mit.edu 37 14 21555550 21555550 + Missense_Mutation SNP C C T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr14:21555550C>T ENST00000298694.4 + 21 4442 c.4315C>T c.(4315-4317)Ccg>Tcg p.P1439S ARHGEF40_ENST00000298693.3_Intron Q8TER5 ARH40_HUMAN Rho guanine nucleotide exchange factor (GEF) 40 1439 regulation of Rho protein signal transduction cytoplasm Rho guanyl-nucleotide exchange factor activity large_intestine(4)|ovary(3)|upper_aerodigestive_tract(2) 9 CGGCCTTTCGCCGGGAGCCTG 0.701000 20 58 0 0 1 0 0 CD1B 910 broad.mit.edu 37 1 158299161 158299161 + Splice_Site SNP C C T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr1:158299161C>T ENST00000368168.3 - 4 992 c.886_splice c.e4+1 p.W295_splice NM_001764.2 NP_001755.1 P29016 CD1B_HUMAN CD1b molecule 295 Ig-like. antigen processing and presentation|immune response endosome membrane|integral to membrane|lysosomal membrane|plasma membrane protein binding breast(2)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|skin(1)|upper_aerodigestive_tract(1) 30 all_hematologic(112;0.0378) ATTTCTTACTCCAGTAGAGGA 0.557000 15 52 0 0 1 0 0 KIAA0319 9856 broad.mit.edu 37 6 24569086 24569086 + Missense_Mutation SNP G G A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr6:24569086G>A ENST00000535378.1 - 14 2678 c.2036C>T c.(2035-2037)aCc>aTc p.T679I KIAA0319_ENST00000430948.2_Missense_Mutation_p.T643I|KIAA0319_ENST00000543707.1_Missense_Mutation_p.T688I|KIAA0319_ENST00000378214.3_Missense_Mutation_p.T688I|KIAA0319_ENST00000537886.1_Missense_Mutation_p.T688I NM_001168374.1 NP_001161846.1 Q5VV43 K0319_HUMAN KIAA0319 688 PKD 4. negative regulation of dendrite development|neuron migration early endosome membrane|integral to membrane|plasma membrane protein binding breast(3)|endometrium(6)|kidney(3)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1) 53 GAAGTGGTAGGTCCCCACCTG 0.512000 22 68 0 0 1 0 0 NACA 4666 broad.mit.edu 37 12 57114739 57114739 + Missense_Mutation SNP G G A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr12:57114739G>A ENST00000454682.1 - 3 856 c.575C>T c.(574-576)cCc>cTc p.P192L NACA_ENST00000393891.4_Intron|NACA_ENST00000546392.1_Intron|NACA_ENST00000552540.1_Intron|NACA_ENST00000551793.1_Intron|NACA_ENST00000356769.3_Intron|NACA_ENST00000550952.1_Missense_Mutation_p.P192L|NACA_ENST00000548563.1_Intron NM_001113203.2 NP_001106674.2 Q13765 NACA_HUMAN nascent polypeptide-associated complex alpha subunit 0 UBA. interspecies interaction between organisms|protein transport|transcription, DNA-dependent|translation nascent polypeptide-associated complex|nucleus DNA binding breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1) 10 TACCTCAGAGGGAACTTTATT 0.483000 T BCL6 NHL 23 96 0 0 1 0 0 ZNF560 147741 broad.mit.edu 37 19 9578750 9578750 + Silent SNP G G A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr19:9578750G>A ENST00000301480.4 - 10 1086 c.873C>T c.(871-873)tcC>tcT p.S291S NM_152476.2 NP_689689.2 Q96MR9 ZN560_HUMAN zinc finger protein 560 291 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(16)|liver(2)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4) 65 TGCCTTCAAAGGATTTATCTT 0.393000 34 106 0 0 1 0 0 SLITRK6 84189 broad.mit.edu 37 13 86370073 86370073 + Missense_Mutation SNP G G A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr13:86370073G>A ENST00000400286.2 - 2 1169 c.571C>T c.(571-573)Cgt>Tgt p.R191C NM_032229.2 NP_115605.2 Q9H5Y7 SLIK6_HUMAN SLIT and NTRK-like family, member 6 191 integral to membrane p.R191C(1) breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(18)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 all_neural(89;0.117)|Medulloblastoma(90;0.163) GBM - Glioblastoma multiforme(99;0.0456) TGATTTCCACGAAGATCTAGA 0.388000 39 121 0 0 1 0 0 RP1 6101 broad.mit.edu 37 8 55540577 55540577 + Missense_Mutation SNP G G A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr8:55540577G>A ENST00000220676.1 + 4 4283 c.4135G>A c.(4135-4137)Gaa>Aaa p.E1379K NM_006269.1 NP_006260.1 P56715 RP1_HUMAN retinitis pigmentosa 1 (autosomal dominant) 1379 axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment microtubule binding NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2) 169 all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123) OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285) GACAGACCCTGAATATAAAAA 0.328000 13 88 0 0 1 0 0 STXBP5L 9515 broad.mit.edu 37 3 120977920 120977920 + Silent SNP A A G TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr3:120977920A>G ENST00000273666.6 + 18 2134 c.1863A>G c.(1861-1863)ccA>ccG p.P621P STXBP5L_ENST00000497029.1_Silent_p.P621P|STXBP5L_ENST00000472879.1_Silent_p.P621P|STXBP5L_ENST00000471454.1_Silent_p.P621P|STXBP5L_ENST00000492541.1_Silent_p.P621P NM_014980.2 NP_055795.1 Q9Y2K9 STB5L_HUMAN syntaxin binding protein 5-like 621 exocytosis|protein transport cytoplasm|integral to membrane|plasma membrane NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 68 GBM - Glioblastoma multiforme(114;0.0694) GAATGCCTCCAGGATATCAAG 0.378000 10 45 0 0 1 0 0 ZMAT4 79698 broad.mit.edu 37 8 40554830 40554830 + Nonsense_Mutation SNP G G A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr8:40554830G>A ENST00000297737.6 - 4 429 c.283C>T c.(283-285)Caa>Taa p.Q95* ZMAT4_ENST00000315769.7_Nonsense_Mutation_p.Q95* NM_024645.2 NP_078921.1 Q9H898 ZMAT4_HUMAN zinc finger, matrin-type 4 95 nucleus DNA binding|zinc ion binding NS(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1) 18 Ovarian(28;0.00724)|Colorectal(14;0.0468) all_cancers(7;0.00936)|all_epithelial(6;3.53e-06)|all_lung(54;0.0318)|Lung NSC(58;0.0919)|Esophageal squamous(32;0.15)|Hepatocellular(245;0.152) LUSC - Lung squamous cell carcinoma(45;0.00722) ATTTTGCCTTGATAATGGGAA 0.517000 31 122 0 0 1 0 0 CHIT1 1118 broad.mit.edu 37 1 203198762 203198762 + Missense_Mutation SNP C C T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr1:203198762C>T ENST00000535569.1 - 1 37 c.33G>A c.(31-33)atG>atA p.M11I CHIT1_ENST00000484834.1_Intron|CHIT1_ENST00000367229.1_Start_Codon_SNP_p.M1I|CHIT1_ENST00000255427.3_Start_Codon_SNP_p.M1I NM_001256125.1 NP_001243054.2 Q13231 CHIT1_HUMAN chitinase 1 (chitotriosidase) 1 chitin catabolic process|immune response|response to bacterium extracellular space|lysosome cation binding|chitin binding|endochitinase activity central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(1)|stomach(2) 27 CAGACCGCACCATGATGCAGC 0.622000 7 22 0 0 1 0 0 ANGPTL4 51129 broad.mit.edu 37 19 8430912 8430912 + Silent SNP G G A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr19:8430912G>A ENST00000301455.2 + 2 564 c.393G>A c.(391-393)gaG>gaA p.E131E ANGPTL4_ENST00000541807.1_5'UTR|ANGPTL4_ENST00000393962.2_Silent_p.E131E NM_139314.1 NP_647475.1 Q9BY76 ANGL4_HUMAN angiopoietin-like 4 131 angiogenesis|cell differentiation|cellular lipid metabolic process|negative regulation of apoptosis|negative regulation of lipoprotein lipase activity|positive regulation of angiogenesis|response to hypoxia|signal transduction|triglyceride homeostasis extracellular space|proteinaceous extracellular matrix enzyme inhibitor activity|receptor binding large_intestine(1)|lung(1)|ovary(2)|skin(2) 6 GGCACCTGGAGAAGCAGCACC 0.562000 15 40 0 0 1 0 0 CDH6 1004 broad.mit.edu 37 5 31323187 31323187 + Silent SNP C C T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr5:31323187C>T ENST00000265071.2 + 12 2410 c.2145C>T c.(2143-2145)ttC>ttT p.F715F NM_004932.3 NP_004923.1 P55285 CADH6_HUMAN cadherin 6, type 2, K-cadherin (fetal kidney) 715 adherens junction organization|cell junction assembly|homophilic cell adhesion cytoplasm|integral to membrane|nucleus|plasma membrane calcium ion binding NS(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(42)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1) 77 TCAGAGATTTCATTAACCAAA 0.532000 14 49 0 0 1 0 0 ALK 238 broad.mit.edu 37 2 29519898 29519898 + Missense_Mutation SNP C C A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr2:29519898C>A ENST00000389048.3 - 9 2579 c.1673G>T c.(1672-1674)gGa>gTa p.G558V ALK_ENST00000498037.1_5'UTR|ALK_ENST00000431873.1_Intron NM_004304.4 NP_004295.2 Q9UM73 ALK_HUMAN anaplastic lymphoma receptor tyrosine kinase 558 MAM 2. protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity ATIC/ALK(24)|FN1/ALK(2)|C2orf44/ALK(2)|TPM3/ALK(33)|KLC1/ALK(2)|VCL/ALK(4)|TPM4/ALK(12)|KIF5B/ALK(8)|RANBP2/ALK(34)|SQSTM1/ALK(2)|EML4/ALK(543)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|NPM1/ALK(632)|CLTC/ALK(44)|CARS/ALK(5)|MSN/ALK(6)|TFG/ALK(9) NS(2)|autonomic_ganglia(198)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(4)|large_intestine(25)|lung(61)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|soft_tissue(3)|stomach(2)|thyroid(2) 340 Acute lymphoblastic leukemia(172;0.155) Adenosine triphosphate(DB00171) CCTCAAGACTCCACGAATGAG 0.537000 """T, Mis, A""" """NPM1, TPM3, TFG, TPM4, ATIC, CLTC, MSN, ALO17, CARS, EML4, KIF5B, C2orf22""" """ALCL, NSCLC, Neuroblastoma""" neuroblastoma Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome 15 60 1.15088e-07 1.16831e-07 1 1 0 GLRA1 2741 broad.mit.edu 37 5 151271999 151271999 + Splice_Site SNP G G A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr5:151271999G>A ENST00000274576.4 - 2 349 c.56_splice c.e2-1 p.S19_splice GLRA1_ENST00000455880.2_Splice_Site_p.S19_splice|GLRA1_ENST00000471351.2_5'UTR|GLRA1_ENST00000545569.1_Intron NM_000171.3|NM_001146040.1 NP_000162.2|NP_001139512.1 P23415 GLRA1_HUMAN glycine receptor, alpha 1 19 muscle contraction|negative regulation of transmission of nerve impulse|neuropeptide signaling pathway|positive regulation of acrosome reaction|regulation of membrane potential|startle response cell junction|chloride channel complex|integral to plasma membrane|intracellular membrane-bounded organelle|postsynaptic membrane extracellular-glycine-gated chloride channel activity|glycine binding|protein binding|receptor activity|taurine binding|transmitter-gated ion channel activity breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1) 23 all_hematologic(541;0.0341)|Medulloblastoma(196;0.0912) Kidney(363;0.000171)|KIRC - Kidney renal clear cell carcinoma(527;0.000785) Desflurane(DB01189)|Enflurane(DB00228)|Ethanol(DB00898)|Glycine(DB00145)|Halothane(DB01159)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236) AAGCAGCAAGGCTAAGGAGGA 0.512000 10 42 0 0 1 0 0 TM9SF4 9777 broad.mit.edu 37 20 30734616 30734616 + Silent SNP C C T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr20:30734616C>T ENST00000217315.5 + 9 1201 c.861C>T c.(859-861)acC>acT p.T287T TM9SF4_ENST00000398022.2_Silent_p.T304T Q92544 TM9S4_HUMAN transmembrane 9 superfamily protein member 4 304 integral to membrane central_nervous_system(2)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 20 UCEC - Uterine corpus endometrioid carcinoma (5;0.0241) TCATTCGGACCCTCCGGAAGG 0.547000 7 35 0 0 1 0 0 PCLO 27445 broad.mit.edu 37 7 82545844 82545844 + Missense_Mutation SNP C C T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr7:82545844C>T ENST00000423517.2 - 7 11795 c.11458G>A c.(11458-11460)Gaa>Aaa p.E3820K PCLO_ENST00000333891.8_Missense_Mutation_p.E3820K|PCLO_ENST00000437081.1_Missense_Mutation_p.E540K NM_014510.2 NP_055325.2 Q9Y6V0 PCLO_HUMAN piccolo presynaptic cytomatrix protein 3751 Gln-rich. cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2) 259 TAGGCTCGTTCTCTCTTTTCT 0.453000 34 73 0 0 1 0 0 LAMB4 22798 broad.mit.edu 37 7 107720127 107720127 + Silent SNP G G A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr7:107720127G>A ENST00000388781.3 - 15 1889 c.1806C>T c.(1804-1806)ctC>ctT p.L602L LAMB4_ENST00000414450.2_Silent_p.L602L|LAMB4_ENST00000388780.3_Silent_p.L602L|LAMB4_ENST00000205386.4_Silent_p.L602L NM_007356.2 NP_031382.2 A4D0S4 LAMB4_HUMAN laminin, beta 4 602 Laminin IV type B. cell adhesion basement membrane NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4) 97 CAGCCCCAGGGAGAACCCTGG 0.507000 15 51 0 0 1 0 0 CD1B 910 broad.mit.edu 37 1 158299162 158299162 + Nonsense_Mutation SNP C C T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr1:158299162C>T ENST00000368168.3 - 4 991 c.884G>A c.(883-885)tGg>tAg p.W295* NM_001764.2 NP_001755.1 P29016 CD1B_HUMAN CD1b molecule 295 Ig-like. antigen processing and presentation|immune response endosome membrane|integral to membrane|lysosomal membrane|plasma membrane protein binding p.W295L(1) breast(2)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|skin(1)|upper_aerodigestive_tract(1) 30 all_hematologic(112;0.0378) TTTCTTACTCCAGTAGAGGAT 0.552000 15 52 0 0 1 0 0 PPP2R3A 5523 broad.mit.edu 37 3 135745729 135745729 + Missense_Mutation SNP C C T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr3:135745729C>T ENST00000264977.3 + 3 2668 c.2051C>T c.(2050-2052)tCt>tTt p.S684F PPP2R3A_ENST00000490467.1_5'UTR|PPP2R3A_ENST00000334546.2_Missense_Mutation_p.S63F NM_001190447.1|NM_002718.4 NP_001177376.1|NP_002709.2 Q06190 P2R3A_HUMAN protein phosphatase 2, regulatory subunit B'', alpha 684 Pro-rich. protein dephosphorylation protein phosphatase type 2A complex calcium ion binding|protein binding|protein phosphatase type 2A regulator activity breast(2)|cervix(1)|endometrium(2)|large_intestine(7)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 31 CCAGCCACCTCTCCAAGTAGT 0.418000 24 82 0 0 1 0 0 COL1A2 1278 broad.mit.edu 37 7 94049738 94049738 + Missense_Mutation SNP T T A rs407599 TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr7:94049738T>A ENST00000297268.6 + 36 2640 c.2169T>A c.(2167-2169)aaT>aaA p.N723K NM_000089.3 NP_000080.2 P08123 CO1A2_HUMAN collagen, type I, alpha 2 723 Missing (in OI2A). axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway collagen type I|extracellular space|plasma membrane extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging COL1A2/PLAG1(3) NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1) 115 all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08) STAD - Stomach adenocarcinoma(171;0.0031) Collagenase(DB00048) CTGGCCCCAATGGATTTGCTG 0.448000 HNSCC(75;0.22) 19 62 0 0 1 0 0 ADAMTS9 56999 broad.mit.edu 37 3 64617578 64617578 + Missense_Mutation SNP T T G TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr3:64617578T>G ENST00000498707.1 - 15 2541 c.2199A>C c.(2197-2199)ttA>ttC p.L733F ADAMTS9_ENST00000295903.4_Missense_Mutation_p.L705F NM_182920.1 NP_891550.1 Q9P2N4 ATS9_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 9 733 Cys-rich. glycoprotein catabolic process|multicellular organismal development|proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding breast(3)|central_nervous_system(4)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(17)|liver(4)|lung(43)|ovary(3)|prostate(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 100 Lung NSC(201;0.00682) BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221) CTTTTGAGTTTAAAACATGAT 0.323000 24 51 0 0 1 0 0 NTF3 4908 broad.mit.edu 37 12 5603549 5603549 + Missense_Mutation SNP G G A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr12:5603549G>A ENST00000423158.3 + 2 420 c.208G>A c.(208-210)Gaa>Aaa p.E70K NTF3_ENST00000535299.1_Intron|NTF3_ENST00000331010.6_Missense_Mutation_p.E57K NM_001102654.1 NP_001096124.1 P20783 NTF3_HUMAN neurotrophin 3 57 signal transduction extracellular region growth factor activity|neurotrophin receptor binding endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(3)|upper_aerodigestive_tract(1) 22 GGACGTTAAGGAAAATTACCA 0.527000 24 88 0 0 1 0 0 BRD4 23476 broad.mit.edu 37 19 15376337 15376337 + Missense_Mutation SNP G G A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr19:15376337G>A ENST00000263377.2 - 5 898 c.677C>T c.(676-678)cCt>cTt p.P226L BRD4_ENST00000371835.4_Missense_Mutation_p.P226L|BRD4_ENST00000360016.5_Missense_Mutation_p.P226L NM_058243.2 NP_490597.1 O60885 BRD4_HUMAN bromodomain containing 4 226 interspecies interaction between organisms|positive regulation of G2/M transition of mitotic cell cycle|positive regulation of transcription elongation from RNA polymerase II promoter|regulation of transcription involved in G1 phase of mitotic cell cycle condensed nuclear chromosome|cytoplasm protein binding breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|urinary_tract(1) 21 OV - Ovarian serous cystadenocarcinoma(3;3.02e-24)|Epithelial(3;4.71e-20)|all cancers(3;2.26e-18) GGTGACGGCAGGGAAGGGGTG 0.657000 T C15orf55 lethal midline carcinoma of young people 32 122 0 0 1 0 0 ZNF558 148156 broad.mit.edu 37 19 8922209 8922209 + Silent SNP G G A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr19:8922209G>A ENST00000601372.1 - 10 1668 c.957C>T c.(955-957)ccC>ccT p.P319P ZNF558_ENST00000444186.2_Silent_p.P248P|ZNF558_ENST00000301475.1_Silent_p.P319P Q96NG5 ZN558_HUMAN zinc finger protein 558 319 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(7)|prostate(1)|skin(1) 15 TACATTCATAGGGTTTTTCTC 0.443000 26 75 0 0 1 0 0 SERPINA12 145264 broad.mit.edu 37 14 94964180 94964180 + Silent SNP G G A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr14:94964180G>A ENST00000341228.2 - 3 1350 c.555C>T c.(553-555)acC>acT p.T185T SERPINA12_ENST00000556881.1_Silent_p.T185T NM_173850.2 NP_776249.1 Q8IW75 SPA12_HUMAN serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 12 185 regulation of proteolysis extracellular region serine-type endopeptidase inhibitor activity p.T185T(2) breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 33 COAD - Colon adenocarcinoma(157;0.235) TTTTCCCATGGGTTTTTTGAC 0.398000 40 106 0 0 1 0 0 HECW2 57520 broad.mit.edu 37 2 197183995 197183995 + Missense_Mutation SNP G G A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr2:197183995G>A ENST00000260983.2 - 9 1801 c.1619C>T c.(1618-1620)tCc>tTc p.S540F HECW2_ENST00000409111.1_Missense_Mutation_p.S184F NM_020760.1 NP_065811.1 Q9P2P5 HECW2_HUMAN HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2 540 protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasm ubiquitin-protein ligase activity biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2) 113 TGCAGGTAAGGAGCTCTCTGC 0.562000 16 54 0 0 1 0 0 PRR23B 389151 broad.mit.edu 37 3 138738986 138738986 + Missense_Mutation SNP C C T rs141791557 byFrequency TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr3:138738986C>T ENST00000329447.5 - 1 782 c.518G>A c.(517-519)gGc>gAc p.G173D MRPS22_ENST00000495075.1_Intron NM_001013650.2 NP_001013672.1 Q6ZRT6 PR23B_HUMAN proline rich 23B 173 NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 AGCGGCTGAGCCGGTTGGGGA 0.647000 18 37 0 0 1 0 0 C1QBP 708 broad.mit.edu 37 17 5338248 5338248 + Missense_Mutation SNP G G A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr17:5338248G>A ENST00000225698.4 - 3 503 c.422C>T c.(421-423)cCa>cTa p.P141L C1QBP_ENST00000574444.1_Missense_Mutation_p.P37L NM_001212.3 NP_001203.1 Q07021 C1QBP_HUMAN complement component 1, q subcomponent binding protein 141 blood coagulation, intrinsic pathway|immune response|interspecies interaction between organisms mitochondrial matrix|nucleus|plasma membrane lung(2)|ovary(1) 3 ATCAAATGTTGGTGGGATGCT 0.453000 23 69 0 0 1 0 0 NCAN 1463 broad.mit.edu 37 19 19360599 19360599 + Missense_Mutation SNP G G A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr19:19360599G>A ENST00000252575.5 + 15 3888 c.3845G>A c.(3844-3846)cGa>cAa p.R1282Q NCAN_ENST00000538881.1_Missense_Mutation_p.R733Q NM_004386.2 NP_004377.2 O14594 NCAN_HUMAN neurocan 1282 R -> G (in Ref. 1; AAC80576). axon guidance|cell adhesion extracellular region calcium ion binding|hyaluronic acid binding|sugar binding breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(32)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 64 Epithelial(12;0.00544) CGGATGCGGCGAcaccaccac 0.592000 15 36 0 0 1 0 0 MINK1 50488 broad.mit.edu 37 17 4796787 4796787 + Missense_Mutation SNP C C T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr17:4796787C>T ENST00000355280.6 + 21 2655 c.2459C>T c.(2458-2460)gCc>gTc p.A820V MINK1_ENST00000347992.7_Missense_Mutation_p.A791V|MINK1_ENST00000453408.3_Missense_Mutation_p.A800V NM_001024937.3|NM_015716.4|NM_153827.4 NP_001020108.1|NP_056531.1|NP_722549.2 Q8N4C8 MINK1_HUMAN misshapen-like kinase 1 820 JNK cascade cytoplasm ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity central_nervous_system(2)|large_intestine(1)|lung(1)|skin(1)|stomach(1) 6 CCCAAGAAGGCCATGGACTAC 0.647000 17 55 0 0 1 0 0 STARD4 134429 broad.mit.edu 37 5 110835665 110835665 + Silent SNP C C T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr5:110835665C>T ENST00000296632.3 - 6 671 c.537G>A c.(535-537)ggG>ggA p.G179G STARD4_ENST00000512160.1_3'UTR NM_139164.1 NP_631903.1 Q96DR4 STAR4_HUMAN StAR-related lipid transfer (START) domain containing 4 179 START. lipid transport lipid binding p.G179G(1) cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1) 12 all_cancers(142;0.00259)|all_epithelial(76;8.32e-05)|Prostate(80;0.0115)|Colorectal(10;0.0959)|Ovarian(225;0.156)|all_lung(232;0.18)|Lung NSC(167;0.248) OV - Ovarian serous cystadenocarcinoma(64;4.91e-09)|Epithelial(69;1.39e-08)|all cancers(49;2.34e-06)|COAD - Colon adenocarcinoma(37;0.049)|Colorectal(14;0.138) GAGGAATCATCCCACGCAGAT 0.413000 29 118 0 0 1 0 0 KCNH7 90134 broad.mit.edu 37 2 163360985 163360985 + Nonsense_Mutation SNP G G A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr2:163360985G>A ENST00000332142.5 - 6 1195 c.1096C>T c.(1096-1098)Cga>Tga p.R366* KCNH7_ENST00000328032.4_Nonsense_Mutation_p.R359*|KCNH7_ENST00000477019.1_5'UTR NM_033272.3 NP_150375.2 Q9NS40 KCNH7_HUMAN potassium voltage-gated channel, subfamily H (eag-related), member 7 366 regulation of transcription, DNA-dependent integral to membrane protein binding|signal transducer activity NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3) 108 Ibutilide(DB00308) TTGTGTGTTCGATCTTTAACC 0.373000 59 126 0 0 1 0 0 KRT73 319101 broad.mit.edu 37 12 53005026 53005026 + Nonsense_Mutation SNP G G A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr12:53005026G>A ENST00000305748.3 - 6 1106 c.1072C>T c.(1072-1074)Caa>Taa p.Q358* RP11-641A6.2_ENST00000551089.1_RNA|RP11-641A6.2_ENST00000552364.1_RNA NM_175068.2 NP_778238.1 Q86Y46 K2C73_HUMAN keratin 73 358 Coil 2.|Rod. keratin filament structural molecule activity NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 44 BRCA - Breast invasive adenocarcinoma(357;0.189) CGCAGTCTTTGGATGAGACGG 0.552000 21 93 0 0 1 0 0 MAPK11 5600 broad.mit.edu 37 22 50705394 50705394 + Silent SNP G G A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr22:50705394G>A ENST00000330651.6 - 7 679 c.579C>T c.(577-579)atC>atT p.I193I MAPK11_ENST00000449719.2_Silent_p.I85I NM_002751.5 NP_002742.3 Q15759 MK11_HUMAN mitogen-activated protein kinase 11 193 Protein kinase. activation of MAPK activity|innate immune response|mRNA metabolic process|muscle cell differentiation|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of muscle cell differentiation|Ras protein signal transduction|regulation of sequence-specific DNA binding transcription factor activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|nucleoplasm ATP binding|MAP kinase activity|protein binding breast(1)|central_nervous_system(1)|lung(4) 6 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;0.205)|LUAD - Lung adenocarcinoma(64;0.247) AGTTGAGCATGATCTCAGGTG 0.642000 9 37 0 0 1 0 0 IL20RB 53833 broad.mit.edu 37 3 136714338 136714338 + Nonsense_Mutation SNP G G A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr3:136714338G>A ENST00000329582.4 + 6 1014 c.765G>A c.(763-765)tgG>tgA p.W255* IL20RB_ENST00000309741.5_3'UTR NM_144717.3 NP_653318.2 Q6UXL0 I20RB_HUMAN interleukin 20 receptor beta 255 integral to membrane receptor activity kidney(2)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 14 TGTTCGTCTGGAAAATGGGCC 0.502000 65 234 0 0 1 0 0 KLKB1 3818 broad.mit.edu 37 4 187172926 187172926 + Missense_Mutation SNP C C T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr4:187172926C>T ENST00000264690.6 + 10 1242 c.1055C>T c.(1054-1056)tCt>tTt p.S352F KLKB1_ENST00000513864.1_Missense_Mutation_p.S352F NM_000892.3 NP_000883.2 P03952 KLKB1_HUMAN kallikrein B, plasma (Fletcher factor) 1 352 Apple 4. blood coagulation, intrinsic pathway|Factor XII activation|fibrinolysis|plasminogen activation|positive regulation of fibrinolysis cytoplasm|extracellular space|plasma membrane serine-type endopeptidase activity breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 40 all_cancers(14;1.55e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00664)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243) OV - Ovarian serous cystadenocarcinoma(60;1.29e-10)|BRCA - Breast invasive adenocarcinoma(30;3.8e-05)|GBM - Glioblastoma multiforme(59;0.000131)|STAD - Stomach adenocarcinoma(60;0.000292)|LUSC - Lung squamous cell carcinoma(40;0.00241)|READ - Rectum adenocarcinoma(43;0.168) TTAAGATTATCTATGGATGGT 0.418000 32 116 0 0 1 0 0 BBS4 585 broad.mit.edu 37 15 73023728 73023728 + Missense_Mutation SNP C C T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr15:73023728C>T ENST00000268057.4 + 11 835 c.794C>T c.(793-795)gCt>gTt p.A265V BBS4_ENST00000539603.1_Missense_Mutation_p.A253V|BBS4_ENST00000542334.1_Missense_Mutation_p.A93V|BBS4_ENST00000395205.2_Missense_Mutation_p.A273V NM_033028.4 NP_149017.2 Q96RK4 BBS4_HUMAN Bardet-Biedl syndrome 4 265 Interaction with PCM1. adult behavior|brain morphogenesis|cell cycle cytokinesis|centrosome organization|cerebral cortex development|convergent extension involved in gastrulation|dendrite development|fat cell differentiation|heart looping|hippocampus development|intracellular transport|maintenance of protein location in nucleus|melanosome transport|microtubule anchoring at centrosome|neural tube closure|nonmotile primary cilium assembly|photoreceptor cell maintenance|pigment granule aggregation in cell center|positive regulation of flagellum assembly|regulation of cilium beat frequency involved in ciliary motility|regulation of cytokinesis|regulation of lipid metabolic process|retina homeostasis|retinal rod cell development|sensory perception of smell|sensory processing|spermatid development|striatum development BBSome|centriolar satellite|centriole|cilium membrane|microtubule basal body|motile cilium|nonmotile primary cilium|nucleus|pericentriolar material alpha-tubulin binding|beta-tubulin binding|dynactin binding|microtubule motor activity autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|prostate(2)|urinary_tract(1) 19 GTGGCTTGTGCTGTTCCAGAA 0.478000 Bardet-Biedl syndrome 13 47 0 0 1 0 0 DMC1 11144 broad.mit.edu 37 22 38948707 38948707 + Missense_Mutation SNP G G A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr22:38948707G>A ENST00000216024.2 - 7 661 c.385C>T c.(385-387)Cgt>Tgt p.R129C DMC1_ENST00000428462.2_Missense_Mutation_p.R129C NM_007068.2 NP_008999.2 Q14565 DMC1_HUMAN DNA meiotic recombinase 1 129 reciprocal meiotic recombination condensed nuclear chromosome ATP binding|DNA binding|DNA-dependent ATPase activity|protein binding large_intestine(5)|lung(4)|ovary(1)|upper_aerodigestive_tract(1) 11 Melanoma(58;0.0286) TTTCCAGTACGAAATTCTGTG 0.274000 Homologous recombination 12 39 0 0 1 0 0 SIDT1 54847 broad.mit.edu 37 3 113320486 113320486 + Missense_Mutation SNP G G T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr3:113320486G>T ENST00000264852.4 + 11 1823 c.1097G>T c.(1096-1098)gGg>gTg p.G366V SIDT1_ENST00000393830.3_Missense_Mutation_p.G366V NM_017699.2 NP_060169.2 Q9NXL6 SIDT1_HUMAN SID1 transmembrane family, member 1 366 integral to membrane breast(1)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(11)|liver(2)|lung(15)|ovary(3)|pancreas(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 50 ACACCCGAAGGGAGCAATTAT 0.428000 15 43 1.3612e-06 1.37488e-06 1 1 0 ZNF71 58491 broad.mit.edu 37 19 57133335 57133335 + Missense_Mutation SNP C C T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr19:57133335C>T ENST00000328070.6 + 3 914 c.680C>T c.(679-681)tCc>tTc p.S227F NM_021216.4 NP_067039.1 Q9NQZ8 ZNF71_HUMAN zinc finger protein 71 227 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding endometrium(3)|large_intestine(5)|lung(13)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 26 GBM - Glioblastoma multiforme(193;0.062)|Lung(386;0.0681)|LUSC - Lung squamous cell carcinoma(496;0.18) CGGAAGACTTCCTCTCTCACC 0.637000 11 40 0 0 1 0 0 TRPM2 7226 broad.mit.edu 37 21 45819255 45819255 + Silent SNP G G A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr21:45819255G>A ENST00000397928.1 + 14 2584 c.2139G>A c.(2137-2139)ggG>ggA p.G713G TRPM2_ENST00000397932.2_Silent_p.G713G|TRPM2_ENST00000300481.9_Silent_p.G693G|TRPM2_ENST00000498430.1_3'UTR|TRPM2_ENST00000300482.5_Silent_p.G713G NM_003307.3 NP_003298.1 O94759 TRPM2_HUMAN transient receptor potential cation channel, subfamily M, member 2 713 integral to plasma membrane ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1) 76 AGGCCTGGGGGAAGACCACCT 0.627000 12 42 0 0 1 0 0 USP28 57646 broad.mit.edu 37 11 113675607 113675607 + Missense_Mutation SNP A A T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr11:113675607A>T ENST00000003302.4 - 20 2630 c.2562T>A c.(2560-2562)aaT>aaA p.N854K USP28_ENST00000545540.1_Missense_Mutation_p.N697K|USP28_ENST00000260188.5_Missense_Mutation_p.N822K|USP28_ENST00000544967.1_Missense_Mutation_p.N530K NM_020886.2 NP_065937.1 Q96RU2 UBP28_HUMAN ubiquitin specific peptidase 28 854 cell proliferation|DNA damage checkpoint|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA repair|protein deubiquitination|response to ionizing radiation|ubiquitin-dependent protein catabolic process nucleolus|nucleoplasm protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity breast(4)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(24)|ovary(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 59 all_cancers(61;3.74e-18)|all_epithelial(67;3.75e-11)|Melanoma(852;1.46e-05)|all_hematologic(158;4.65e-05)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|Prostate(24;0.0153)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425) BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|Epithelial(105;0.000122)|all cancers(92;0.00104) CATAGCTAAGATTTTTATCTG 0.453000 17 58 0 0 1 0 0 CD81-AS1 101927682 broad.mit.edu 37 11 2356726 2356726 + RNA SNP A A C TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr11:2356726A>C ENST00000413483.1 - 0 407 RPL26P30_ENST00000602923.1_RNA CTCACGCTGCACCCGCTCGAT 0.498000 25 132 0 0 1 0 0 INPPL1 3636 broad.mit.edu 37 11 71948210 71948210 + Silent SNP C C T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr11:71948210C>T ENST00000298229.2 + 26 3126 c.2922C>T c.(2920-2922)gcC>gcT p.A974A INPPL1_ENST00000538751.1_Silent_p.A732A|INPPL1_ENST00000541756.1_Silent_p.A732A NM_001567.3 NP_001558.3 O15357 SHIP2_HUMAN inositol polyphosphate phosphatase-like 1 974 Pro-rich. actin filament organization|cell adhesion|endocytosis actin cortical patch|cytosol actin binding|SH2 domain binding|SH3 domain binding breast(2)|endometrium(9)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 44 GGGTGGCGGCCCCCCCACCCA 0.637000 33 102 0 0 1 0 0 THBS1 7057 broad.mit.edu 37 15 39880262 39880262 + Nonsense_Mutation SNP G G A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr15:39880262G>A ENST00000260356.5 + 9 1479 c.1314G>A c.(1312-1314)tgG>tgA p.W438* NM_003246.2 NP_003237.2 P07996 TSP1_HUMAN thrombospondin 1 438 TSP type-1 2. activation of MAPK activity|anti-apoptosis|apoptosis|cell adhesion|cell cycle arrest|cell migration|cellular response to heat|chronic inflammatory response|engulfment of apoptotic cell|immune response|induction of apoptosis|negative regulation of angiogenesis|negative regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|negative regulation of blood vessel endothelial cell migration|negative regulation of caspase activity|negative regulation of cGMP-mediated signaling|negative regulation of dendritic cell antigen processing and presentation|negative regulation of endothelial cell proliferation|negative regulation of fibrinolysis|negative regulation of fibroblast growth factor receptor signaling pathway|negative regulation of focal adhesion assembly|negative regulation of interleukin-12 production|negative regulation of nitric oxide mediated signal transduction|negative regulation of plasma membrane long-chain fatty acid transport|negative regulation of plasminogen activation|peptide cross-linking|platelet activation|platelet degranulation|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of fibroblast migration|positive regulation of macrophage activation|positive regulation of macrophage chemotaxis|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transforming growth factor-beta1 production|positive regulation of translation|positive regulation of tumor necrosis factor biosynthetic process|response to calcium ion|response to drug|response to glucose stimulus|response to hypoxia|response to magnesium ion|response to progesterone stimulus|sprouting angiogenesis external side of plasma membrane|extracellular matrix|fibrinogen complex|platelet alpha granule lumen calcium ion binding|collagen V binding|eukaryotic cell surface binding|fibrinogen binding|fibroblast growth factor 2 binding|fibronectin binding|heparin binding|identical protein binding|integrin binding|laminin binding|low-density lipoprotein particle binding|phosphatidylserine binding|proteoglycan binding|structural molecule activity|transforming growth factor beta binding breast(1)|central_nervous_system(3)|endometrium(8)|kidney(5)|large_intestine(15)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 53 all_cancers(109;1.35e-17)|all_epithelial(112;2.07e-15)|Lung NSC(122;4.44e-11)|all_lung(180;1.11e-09)|Melanoma(134;0.0574)|Colorectal(260;0.117)|Ovarian(310;0.223) GBM - Glioblastoma multiforme(113;2.77e-06)|BRCA - Breast invasive adenocarcinoma(123;0.105) Becaplermin(DB00102) ATGGTGGCTGGAGCCACTGGT 0.522000 20 82 0 0 1 0 0 GYS2 2998 broad.mit.edu 37 12 21712622 21712622 + Missense_Mutation SNP C C T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr12:21712622C>T ENST00000261195.2 - 9 1446 c.1192G>A c.(1192-1194)Gaa>Aaa p.E398K NM_021957.3 NP_068776.2 P54840 GYS2_HUMAN glycogen synthase 2 (liver) 398 glucose metabolic process|glycogen biosynthetic process|response to glucose stimulus cortical actin cytoskeleton|cytosol|ectoplasm|insoluble fraction|soluble fraction glycogen (starch) synthase activity|protein homodimerization activity NS(1)|breast(2)|endometrium(5)|kidney(1)|large_intestine(14)|lung(14)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 48 CCAAACTTTTCCTTCACAGAA 0.294000 7 25 0 0 1 0 0 SNHG14 104472715 broad.mit.edu 37 15 25232160 25232160 + RNA SNP G G A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr15:25232160G>A ENST00000551631.2 + 0 887 SNHG14_ENST00000551361.1_RNA NR_001293.1 GCTAATTCATGATCAAAGTAA 0.388000 10 35 0 0 1 0 0 GPRC5B 51704 broad.mit.edu 37 16 19883616 19883616 + Silent SNP G G A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr16:19883616G>A ENST00000300571.2 - 2 743 c.552C>T c.(550-552)acC>acT p.T184T GPRC5B_ENST00000569847.1_Silent_p.T184T|GPRC5B_ENST00000569479.1_Silent_p.T184T|GPRC5B_ENST00000535671.1_Silent_p.T184T|GPRC5B_ENST00000537135.1_Silent_p.T210T NM_016235.1 NP_057319.1 Q9NZH0 GPC5B_HUMAN G protein-coupled receptor, family C, group 5, member B 184 breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 25 CACGCAGCACGGTGAGCACCA 0.652000 10 67 0 0 1 0 0 PADI4 23569 broad.mit.edu 37 1 17672607 17672607 + Silent SNP G G A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr1:17672607G>A ENST00000375448.4 + 9 1046 c.1020G>A c.(1018-1020)gaG>gaA p.E340E AC004824.2_ENST00000602074.1_Intron NM_012387.2 NP_036519.2 Q9UM07 PADI4_HUMAN peptidyl arginine deiminase, type IV 340 chromatin modification|peptidyl-citrulline biosynthetic process from peptidyl-arginine|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus calcium ion binding|protein-arginine deiminase activity autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(13)|ovary(2)|skin(2)|urinary_tract(3) 26 Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000338)|Lung NSC(340;0.00042)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00537)|BRCA - Breast invasive adenocarcinoma(304;8.54e-06)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(64;0.000223)|KIRC - Kidney renal clear cell carcinoma(64;0.00313)|STAD - Stomach adenocarcinoma(196;0.00707)|READ - Rectum adenocarcinoma(331;0.0689)|Lung(427;0.199) L-Citrulline(DB00155) GCCCTGAGGAGGAGAACATGG 0.552000 19 34 0 0 1 0 0 DNAH8 1769 broad.mit.edu 37 6 38810498 38810498 + Missense_Mutation SNP G G A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr6:38810498G>A ENST00000359357.3 + 33 4267 c.4013G>A c.(4012-4014)aGa>aAa p.R1338K DNAH8_ENST00000449981.2_Missense_Mutation_p.R1555K|DNAH8_ENST00000441566.1_Missense_Mutation_p.R1338K dynein, axonemal, heavy chain 8 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 CTCAAAAAGAGAATTGATGAT 0.378000 30 73 0 0 1 0 0 LRP1B 53353 broad.mit.edu 37 2 141232749 141232749 + Missense_Mutation SNP G G A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr2:141232749G>A ENST00000389484.3 - 60 10554 c.9583C>T c.(9583-9585)Cac>Tac p.H3195Y NM_018557.2 NP_061027.2 Q9NZR2 LRP1B_HUMAN low density lipoprotein receptor-related protein 1B 3195 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) AATTCAATGTGATTTTCATCG 0.338000 TSP Lung(27;0.18) 27 71 0 0 1 0 0 CHIA 27159 broad.mit.edu 37 1 111857955 111857955 + Silent SNP C C T rs41282498 TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr1:111857955C>T ENST00000369740.1 + 6 481 c.378C>T c.(376-378)ttC>ttT p.F126F CHIA_ENST00000430615.1_Silent_p.F18F|CHIA_ENST00000343320.6_Silent_p.F126F|CHIA_ENST00000353665.6_Intron|CHIA_ENST00000483391.1_Intron|CHIA_ENST00000451398.2_5'UTR NM_001258001.1|NM_201653.3 NP_001244930.1|NP_970615.2 Q9BZP6 CHIA_HUMAN chitinase, acidic 126 apoptosis|cell wall chitin metabolic process|chitin catabolic process|digestion|immune response|positive regulation of chemokine secretion|production of molecular mediator involved in inflammatory response|response to acid|response to fungus cytoplasm|extracellular space cation binding|chitin binding|chitinase activity|kinase binding|lysozyme activity|sugar binding central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|skin(1) 23 all_cancers(81;3.23e-05)|all_epithelial(167;1.2e-05)|all_lung(203;0.000154)|Lung NSC(277;0.000304) Colorectal(144;0.0115)|Lung(183;0.0292)|COAD - Colon adenocarcinoma(174;0.0314)|all cancers(265;0.0477)|Epithelial(280;0.0918)|LUSC - Lung squamous cell carcinoma(189;0.154) TCATCAAATTCCTGCGCCAGT 0.547000 88 80 0 0 1 0 0 OLAH 55301 broad.mit.edu 37 10 15115107 15115107 + Missense_Mutation SNP G G A rs139895854 TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr10:15115107G>A ENST00000378217.3 + 9 1023 c.836G>A c.(835-837)gGa>gAa p.G279E OLAH_ENST00000485251.1_3'UTR|OLAH_ENST00000378228.3_Missense_Mutation_p.G226E NM_018324.2 NP_060794.1 Q9NV23 SAST_HUMAN oleoyl-ACP hydrolase 226 fatty acid biosynthetic process myristoyl-[acyl-carrier-protein] hydrolase activity|oleoyl-[acyl-carrier-protein] hydrolase activity|palmitoyl-[acyl-carrier-protein] hydrolase activity endometrium(2)|large_intestine(1)|lung(14)|stomach(1) 18 GTAACCAGTGGAAATGCTAAA 0.353000 13 55 0 0 1 0 0 GPR124 25960 broad.mit.edu 37 8 37688326 37688326 + Silent SNP C C T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr8:37688326C>T ENST00000315215.7 + 7 1180 c.817C>T c.(817-819)Ctg>Ttg p.L273L GPR124_ENST00000412232.2_Silent_p.L273L Q96PE1 GP124_HUMAN G protein-coupled receptor 124 273 Ig-like. central nervous system development|endothelial cell migration|neuropeptide signaling pathway|regulation of angiogenesis|regulation of chemotaxis|sprouting angiogenesis integral to membrane|plasma membrane G-protein coupled receptor activity central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(16)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 37 BRCA - Breast invasive adenocarcinoma(5;2.75e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10) TGCCAGCTACCTGGGCAACGA 0.657000 6 8 0 0 1 0 0 RHOBTB1 9886 broad.mit.edu 37 10 62645964 62645964 + Missense_Mutation SNP C C T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr10:62645964C>T ENST00000337910.5 - 7 1818 c.1481G>A c.(1480-1482)gGa>gAa p.G494E RHOBTB1_ENST00000357917.4_Missense_Mutation_p.G494E NM_001242359.1|NM_014836.4 NP_001229288.1|NP_055651.1 O94844 RHBT1_HUMAN Rho-related BTB domain containing 1 494 BTB 2. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|plasma membrane GTP binding endometrium(4)|large_intestine(6)|lung(11)|ovary(1)|upper_aerodigestive_tract(1) 23 Prostate(12;0.0112) ACTGATGGCTCCATCGTCCAA 0.522000 30 57 0 0 1 0 0 GRM4 2914 broad.mit.edu 37 6 34100929 34100929 + Silent SNP G G A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr6:34100929G>A ENST00000374181.3 - 1 514 c.345C>T c.(343-345)gcC>gcT p.A115A GRM4_ENST00000538487.1_Silent_p.A115A|GRM4_ENST00000374177.3_Intron NM_001256810.1 NP_001243739.1 Q14833 GRM4_HUMAN glutamate receptor, metabotropic 4 115 activation of MAPK activity|inhibition of adenylate cyclase activity by metabotropic glutamate receptor signaling pathway|neuroprotection|neurotransmitter secretion|positive regulation of MAPKKK cascade cytoplasmic vesicle|integral to plasma membrane G-protein coupled receptor activity|glutamate receptor activity NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 48 L-Glutamic Acid(DB00142) ACTGCTCGAGGGCATGGGTGT 0.627000 8 23 0 0 1 0 0 PRR12 57479 broad.mit.edu 37 19 50105096 50105096 + Missense_Mutation SNP C C T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr19:50105096C>T ENST00000418929.2 + 6 4706 c.4694C>T c.(4693-4695)gCc>gTc p.A1565V NM_020719.1 NP_065770.1 Q9ULL5 PRR12_HUMAN proline rich 12 744 DNA binding NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|pancreas(1)|prostate(2) 11 all_lung(116;2.45e-07)|Lung NSC(112;1.24e-06)|Ovarian(192;0.0728)|all_neural(266;0.0887) OV - Ovarian serous cystadenocarcinoma(262;0.00319)|GBM - Glioblastoma multiforme(134;0.0132) GACGAGGAGGCCGGCGAGAGT 0.667000 9 19 0 0 1 0 0 ZIM3 114026 broad.mit.edu 37 19 57647171 57647171 + Silent SNP T T C TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr19:57647171T>C ENST00000269834.1 - 5 919 c.534A>G c.(532-534)tcA>tcG p.S178S NM_052882.1 NP_443114.1 Q96PE6 ZIM3_HUMAN zinc finger, imprinted 3 178 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(27)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1) 52 Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.243) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026) GGCGTGACTTTGAACTGAATA 0.408000 49 157 0 0 1 0 0 PCDHGA4 56111 broad.mit.edu 37 5 140734937 140734937 + Missense_Mutation SNP G G A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr5:140734937G>A ENST00000571252.1 + 1 170 c.170G>A c.(169-171)cGg>cAg p.R57Q PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB1_ENST00000523390.1_Intron NM_018917.2 NP_061740.1 endometrium(1)|kidney(1)|lung(3) 5 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TTGGCGCCCCGGGAGCTGGCG 0.632000 28 84 0 0 1 0 0 MYO18B 84700 broad.mit.edu 37 22 26219534 26219534 + Missense_Mutation SNP G G A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr22:26219534G>A ENST00000335473.7 + 13 2834 c.2584G>A c.(2584-2586)Gag>Aag p.E862K MYO18B_ENST00000536101.1_Missense_Mutation_p.E862K|MYO18B_ENST00000407587.2_Missense_Mutation_p.E862K NM_032608.5 NP_115997.5 Q8IUG5 MY18B_HUMAN myosin XVIIIB 862 Myosin head-like. nucleus|sarcomere|unconventional myosin complex actin binding|ATP binding|motor activity NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2) 146 CCTGGGCTGCGAGTATGAGGA 0.582000 42 131 0 0 1 0 0 ERMARD 55780 broad.mit.edu 37 6 170156844 170156844 + Silent SNP C C A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr6:170156844C>A ENST00000588451.1 + 5 582 c.69C>A c.(67-69)ccC>ccA p.P23P C6orf70_ENST00000392095.4_Silent_p.P23P|C6orf70_ENST00000366772.2_Silent_p.P149P|C6orf70_ENST00000366773.3_Silent_p.P149P|C6orf70_ENST00000418781.3_Silent_p.P149P Q5T6L9 CF070_HUMAN 149 integral to membrane breast(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(7)|ovary(1) 20 Breast(66;5.08e-05)|Ovarian(120;0.208) OV - Ovarian serous cystadenocarcinoma(33;1.2e-22)|BRCA - Breast invasive adenocarcinoma(81;1.49e-07)|GBM - Glioblastoma multiforme(31;0.00191) AGGAATGCCCCTTTCTTTTAA 0.348000 27 82 2.61193e-14 2.67175e-14 1 1 0 TEX9 374618 broad.mit.edu 37 15 56681579 56681579 + Missense_Mutation SNP G G A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr15:56681579G>A ENST00000558083.2 + 5 481 c.151G>A c.(151-153)Gga>Aga p.G51R TEX9_ENST00000561221.2_Missense_Mutation_p.G126R|TEX9_ENST00000537232.1_Missense_Mutation_p.G51R|TEX9_ENST00000352903.2_Missense_Mutation_p.G126R Q8N6V9 TEX9_HUMAN testis expressed 9 126 cervix(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(1) 14 all cancers(107;0.0394)|GBM - Glioblastoma multiforme(80;0.056) TGCAAATAAAGGAAGGAAAAC 0.274000 6 30 0 0 1 0 0 DHX38 9785 broad.mit.edu 37 16 72132628 72132628 + Missense_Mutation SNP C C T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr16:72132628C>T ENST00000268482.3 + 5 1210 c.701C>T c.(700-702)tCc>tTc p.S234F DHX38_ENST00000536867.1_Intron NM_014003.3 NP_054722.2 Q92620 PRP16_HUMAN DEAH (Asp-Glu-Ala-His) box polypeptide 38 234 mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription catalytic step 2 spliceosome|nucleoplasm ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding endometrium(5)|kidney(1)|large_intestine(16)|lung(15)|pancreas(1)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1) 48 Ovarian(137;0.125) GAATCGCCCTCCCCGACGCCT 0.602000 8 39 0 0 1 0 0 KIAA1586 57691 broad.mit.edu 37 6 56917839 56917839 + Missense_Mutation SNP C C T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr6:56917839C>T ENST00000370733.4 + 4 749 c.542C>T c.(541-543)tCc>tTc p.S181F KIAA1586_ENST00000545356.1_Missense_Mutation_p.S154F|KIAA1586_ENST00000488682.1_3'UTR NM_020931.2 NP_065982.1 Q9HCI6 K1586_HUMAN KIAA1586 181 nucleic acid binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(9)|skin(1) 18 Lung NSC(77;0.0969) LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13) GTCCATGTGTCCAAGGAATGG 0.363000 27 99 0 0 1 0 0 DICER1 23405 broad.mit.edu 37 14 95579448 95579448 + Missense_Mutation SNP G G A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr14:95579448G>A ENST00000526495.1 - 14 2312 c.2021C>T c.(2020-2022)cCt>cTt p.P674L DICER1_ENST00000527414.1_Missense_Mutation_p.P674L|DICER1_ENST00000541352.1_Missense_Mutation_p.P674L|DICER1_ENST00000343455.3_Missense_Mutation_p.P674L|DICER1_ENST00000393063.1_Missense_Mutation_p.P674L Q9UPY3 DICER_HUMAN dicer 1, ribonuclease type III 674 Dicer dsRNA-binding fold. negative regulation of Schwann cell proliferation|negative regulation of transcription from RNA polymerase II promoter|nerve development|neuron projection morphogenesis|peripheral nervous system myelin formation|positive regulation of myelination|positive regulation of Schwann cell differentiation|pre-miRNA processing|production of siRNA involved in RNA interference|targeting of mRNA for destruction involved in RNA interference cytosol|RNA-induced silencing complex ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(13)|kidney(3)|large_intestine(10)|lung(33)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(3) 75 all_cancers(154;0.0621)|all_epithelial(191;0.223) Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215) GGCTCGAAGAGGTGAGTTAAT 0.363000 """Mis F, N""" """sex cord-stromal tumour, TGCT, embryonal rhadomyosarcoma""" pleuropulmonary blastoma Familial Multinodular Goiter ;DICER 1 syndrome 13 56 0 0 1 0 0 BACH2 60468 broad.mit.edu 37 6 90648060 90648060 + Missense_Mutation SNP G G A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr6:90648060G>A ENST00000257749.4 - 8 2553 c.1846C>T c.(1846-1848)Cct>Tct p.P616S BACH2_ENST00000537989.1_Missense_Mutation_p.P616S|BACH2_ENST00000343122.3_Missense_Mutation_p.P616S NM_021813.2 NP_068585.1 Q9BYV9 BACH2_HUMAN BTB and CNC homology 1, basic leucine zipper transcription factor 2 616 nucleus protein dimerization activity|sequence-specific DNA binding central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1) 45 all_cancers(76;7.37e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.0063) BRCA - Breast invasive adenocarcinoma(108;0.0799) ACAGGAAAAGGAAGTTTTACC 0.353000 5 53 0 0 1 0 0 SPATA31E1 286234 broad.mit.edu 37 9 90502088 90502088 + Missense_Mutation SNP G G A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr9:90502088G>A ENST00000325643.5 + 4 2752 c.2686G>A c.(2686-2688)Gga>Aga p.G896R NM_178828.4 NP_849150.3 SPATA31 subfamily E, member 1 CATTTTCCTGGGAAAACGTCC 0.597000 20 34 0 0 1 0 0 TNR 7143 broad.mit.edu 37 1 175365849 175365849 + Silent SNP G G A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr1:175365849G>A ENST00000367674.1 - 5 1779 c.1071C>T c.(1069-1071)atC>atT p.I357I TNR_ENST00000263525.2_Silent_p.I357I NM_003285.2 NP_003276.3 Q92752 TENR_HUMAN tenascin R 357 Fibronectin type-III 1. axon guidance|cell adhesion|signal transduction proteinaceous extracellular matrix NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 177 Renal(580;0.146) GCTGGTAAGAGATCACATATT 0.622000 47 55 0 0 1 0 0 SLC25A17 10478 broad.mit.edu 37 22 41195056 41195056 + Missense_Mutation SNP G G A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr22:41195056G>A ENST00000435456.2 - 2 219 c.86C>T c.(85-87)cCc>cTc p.P29L SLC25A17_ENST00000542412.1_Missense_Mutation_p.P29L|SLC25A17_ENST00000491545.1_5'UTR|SLC25A17_ENST00000544408.1_5'UTR NM_006358.2 NP_006349.1 O43808 PM34_HUMAN solute carrier family 25 (mitochondrial carrier; peroxisomal membrane protein, 34kDa), member 17 29 fatty acid alpha-oxidation integral to plasma membrane|mitochondrial inner membrane|peroxisomal membrane adenine nucleotide transmembrane transporter activity|protein binding central_nervous_system(1)|large_intestine(4)|lung(2)|skin(1) 8 TGTATCCAGGGGAAAAAACAC 0.363000 17 30 0 0 1 0 0 ORAI2 80228 broad.mit.edu 37 7 102087295 102087295 + Silent SNP C C T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr7:102087295C>T ENST00000356387.2 + 4 796 c.561C>T c.(559-561)ggC>ggT p.G187G ORAI2_ENST00000473939.1_Silent_p.G187G|ORAI2_ENST00000488996.1_3'UTR|ORAI2_ENST00000403646.3_Silent_p.G187G|ORAI2_ENST00000478730.1_Silent_p.G187G NM_001126340.1|NM_001271818.1|NM_001271819.1|NM_032831.3 NP_001119812.1|NP_001258747.1|NP_001258748.1|NP_116220.1 Q96SN7 ORAI2_HUMAN ORAI calcium release-activated calcium modulator 2 187 integral to membrane protein binding autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(1)|lung(4)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 15 CCCCACCTGGCCCTGGGAGTC 0.657000 13 67 0 0 1 0 0 SMARCB1 6598 broad.mit.edu 37 22 24167438 24167438 + Silent SNP C C T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr22:24167438C>T ENST00000344921.6 + 7 1056 c.849C>T c.(847-849)tcC>tcT p.S283S SMARCB1_ENST00000407422.3_Silent_p.S265S|SMARCB1_ENST00000263121.7_Silent_p.S274S|SMARCB1_ENST00000407082.3_Silent_p.S228S|SMARCB1_ENST00000477836.1_3'UTR Q12824 SNF5_HUMAN SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 274 2 X approximate tandem repeats. cell cycle|chromatin remodeling|DNA integration|interspecies interaction between organisms|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|retroviral genome replication|transcription, DNA-dependent nBAF complex|npBAF complex|nucleolus|nucleoplasm|SWI/SNF complex p53 binding p.?(6)|p.L266_*386del(1) bone(4)|central_nervous_system(198)|endometrium(4)|haematopoietic_and_lymphoid_tissue(25)|kidney(3)|large_intestine(5)|liver(2)|lung(5)|meninges(5)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|soft_tissue(194) 458 Medulloblastoma(6;2.2e-09)|all_neural(6;2.73e-05) GAAACATTTCCCTGGTGGACC 0.572000 """D, N, F, S""" malignant rhabdoid malignant rhabdoid 26 81 0 0 1 0 0 UBQLNL 143630 broad.mit.edu 37 11 5537407 5537407 + Missense_Mutation SNP C C T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr11:5537407C>T ENST00000380184.1 - 1 528 c.265G>A c.(265-267)Ggc>Agc p.G89S HBG2_ENST00000380259.2_Intron NM_145053.4 NP_659490.4 Q8IYU4 UBQLN_HUMAN ubiquilin-like 89 Ubiquitin-like. endometrium(1)|kidney(3)|large_intestine(9)|lung(13)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 33 Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212) Epithelial(150;1.92e-09)|BRCA - Breast invasive adenocarcinoma(625;0.136) TCCATGATGCCCCTCTGGCTC 0.532000 10 79 0 0 1 0 0 TICRR 90381 broad.mit.edu 37 15 90167737 90167737 + Missense_Mutation SNP A A C TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr15:90167737A>C ENST00000268138.7 + 20 4301 c.4196A>C c.(4195-4197)cAg>cCg p.Q1399P TICRR_ENST00000560985.1_Missense_Mutation_p.Q1398P|KIF7_ENST00000558928.1_Intron TOPBP1-interacting checkpoint and replication regulator GTGGAGTGTCAGCCTGATGCC 0.577000 40 132 0 0 1 0 0 MUC5B 727897 broad.mit.edu 37 11 1271501 1271501 + Missense_Mutation SNP G G A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr11:1271501G>A ENST00000447027.1 + 31 13458 c.13400G>A c.(13399-13401)gGa>gAa p.G4467E MUC5B_ENST00000529681.1_Missense_Mutation_p.G4464E Q9HC84 MUC5B_HUMAN mucin 5B, oligomeric mucus/gel-forming 4464 23 X approximate tandem repeats, Ser/Thr- rich.|Thr-rich. cell adhesion extracellular region extracellular matrix structural constituent|protein binding p.G4464E(1)|p.G4419E(1) 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) GTGCCCACCGGATCCACGGCC 0.672000 29 117 0 0 1 0 0 STAB2 55576 broad.mit.edu 37 12 104126850 104126850 + Missense_Mutation SNP G G A rs147807697 by1000genomes TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr12:104126850G>A ENST00000388887.2 + 51 5554 c.5350G>A c.(5350-5352)Gac>Aac p.D1784N NM_017564.9 NP_060034.9 Q8WWQ8 STAB2_HUMAN stabilin 2 1784 FAS1 6. angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis cytoplasm|external side of plasma membrane|integral to plasma membrane Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity p.D1784N(1) NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2) 174 CTGGCCCACCGACCAAGCCCT 0.522000 44 118 0 0 1 0 0 C5 727 broad.mit.edu 37 9 123797169 123797169 + Missense_Mutation SNP G G A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr9:123797169G>A ENST00000223642.1 - 5 525 c.496C>T c.(496-498)Cct>Tct p.P166S NM_001735.2 NP_001726.2 P01031 CO5_HUMAN complement component 5 166 activation of MAPK activity|chemotaxis|complement activation, alternative pathway|complement activation, classical pathway|cytolysis|G-protein coupled receptor protein signaling pathway|inflammatory response|negative regulation of macrophage chemotaxis|positive regulation of chemokine secretion|positive regulation vascular endothelial growth factor production extracellular space|membrane attack complex chemokine activity|endopeptidase inhibitor activity breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(14)|lung(5)|ovary(2)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 46 OV - Ovarian serous cystadenocarcinoma(323;4.98e-53)|GBM - Glioblastoma multiforme(294;0.0242) Eculizumab(DB01257) GATCCTTCAGGATCCTGTAAA 0.299000 9 19 0 0 1 0 0 SCN3A 6328 broad.mit.edu 37 2 166026969 166026969 + Silent SNP C C T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr2:166026969C>T ENST00000360093.3 - 4 845 c.354G>A c.(352-354)agG>agA p.R118R SCN3A_ENST00000409101.3_Silent_p.R118R|SCN3A_ENST00000283254.7_Silent_p.R118R NM_001081677.1 NP_001075146.1 Q9NY46 SCN3A_HUMAN sodium channel, voltage-gated, type III, alpha subunit 118 voltage-gated sodium channel complex voltage-gated sodium channel activity NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3) 120 Lamotrigine(DB00555) TAGCAATTTTCCTAACAGGGT 0.303000 14 42 0 0 1 0 0 H1FNT 341567 broad.mit.edu 37 12 48723737 48723737 + Silent SNP G G A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr12:48723737G>A ENST00000335017.1 + 1 975 c.663G>A c.(661-663)gtG>gtA p.V221V NM_181788.1 NP_861453.1 Q75WM6 H1FNT_HUMAN H1 histone family, member N, testis-specific 221 chromosome condensation|multicellular organismal development|sperm chromatin condensation|spermatid nucleus elongation nuclear chromatin ATP binding|DNA binding endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1) 13 GACAGGCCGTGAAGGAAGACA 0.667000 6 13 0 0 1 0 0 KIF3C 3797 broad.mit.edu 37 2 26152834 26152834 + Missense_Mutation SNP G G A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr2:26152834G>A ENST00000264712.3 - 6 2684 c.2105C>T c.(2104-2106)cCc>cTc p.P702L KIF3C_ENST00000496378.1_5'UTR|KIF3C_ENST00000405914.1_Missense_Mutation_p.P702L NM_002254.6 NP_002245.4 O14782 KIF3C_HUMAN kinesin family member 3C 702 Globular (Potential). blood coagulation|microtubule-based movement cytosol|kinesin complex|microtubule ATP binding|microtubule motor activity breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(8)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) CCTGTACCTGGGGTGGGACCC 0.607000 35 84 0 0 1 0 0 CLEC3A 10143 broad.mit.edu 37 16 78056532 78056532 + Silent SNP G G A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr16:78056532G>A ENST00000299642.4 + 1 121 c.36G>A c.(34-36)aaG>aaA p.K12K RP11-281J9.2_ENST00000563114.1_RNA|CLEC3A_ENST00000575655.1_Silent_p.K3K NM_001244755.1 NP_001231684.1 O75596 CLC3A_HUMAN C-type lectin domain family 3, member A 3 skeletal system development extracellular region sugar binding NS(1)|endometrium(2)|large_intestine(1)|lung(11)|ovary(1)|upper_aerodigestive_tract(2) 18 CCATGGCAAAGAATGGACTTG 0.532000 8 27 0 0 1 0 0 PTPRK 5796 broad.mit.edu 37 6 128294930 128294930 + Missense_Mutation SNP C C T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr6:128294930C>T ENST00000368227.3 - 29 4429 c.4063G>A c.(4063-4065)Gga>Aga p.G1355R PTPRK_ENST00000368213.5_Missense_Mutation_p.G1344R|PTPRK_ENST00000532331.1_Missense_Mutation_p.G1360R|PTPRK_ENST00000368207.3_Missense_Mutation_p.G1370R|PTPRK_ENST00000368210.3_Missense_Mutation_p.G1356R|PTPRK_ENST00000368215.3_Missense_Mutation_p.G1337R|PTPRK_ENST00000368226.4_Missense_Mutation_p.G1338R Q15262 PTPRK_HUMAN protein tyrosine phosphatase, receptor type, K 1337 Tyrosine-protein phosphatase 2. cell migration|cellular response to reactive oxygen species|cellular response to UV|focal adhesion assembly|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of keratinocyte proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transforming growth factor beta receptor signaling pathway adherens junction|cell surface|cell-cell junction|integral to plasma membrane|leading edge membrane beta-catenin binding|gamma-catenin binding|protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity PTPRK/RSPO3(10) autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(14)|lung(24)|ovary(3)|pancreas(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1) 72 all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24) GAAGCCCATCCTAGGTACTGA 0.443000 20 90 0 0 1 0 0 YIPF7 285525 broad.mit.edu 37 4 44624459 44624459 + Missense_Mutation SNP C C T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr4:44624459C>T ENST00000332990.5 - 6 831 c.815G>A c.(814-816)gGa>gAa p.G272E NM_182592.2 NP_872398.2 Q8N8F6 YIPF7_HUMAN Yip1 domain family, member 7 272 endoplasmic reticulum membrane|integral to membrane breast(1)|large_intestine(1)|lung(9)|upper_aerodigestive_tract(1) 12 GGCAAAAAGTCCATAAAGTAT 0.398000 5 39 0 0 1 0 0 EPHA1 2041 broad.mit.edu 37 7 143095983 143095983 + Silent SNP G G A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr7:143095983G>A ENST00000275815.3 - 6 1133 c.1047C>T c.(1045-1047)tcC>tcT p.S349S NM_005232.4 NP_005223.4 P21709 EPHA1_HUMAN EPH receptor A1 349 Fibronectin type-III 1. integral to plasma membrane ATP binding|ephrin receptor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(21)|ovary(4)|skin(1)|stomach(1)|urinary_tract(3) 51 Melanoma(164;0.205) Myeloproliferative disorder(862;0.0255) CCCAACGCAGGGAGAGCTGAG 0.637000 4 26 0 0 1 0 0 NOVA1 4857 broad.mit.edu 37 14 26917263 26917263 + Missense_Mutation SNP C C T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr14:26917263C>T ENST00000539517.2 - 5 1743 c.1426G>A c.(1426-1428)Gga>Aga p.G476R NOVA1_ENST00000267422.7_Missense_Mutation_p.G354R|NOVA1_ENST00000465357.2_Missense_Mutation_p.G452R NM_002515.2 NP_002506.2 P51513 NOVA1_HUMAN neuro-oncological ventral antigen 1 479 KH 3. locomotory behavior|RNA splicing|synaptic transmission nucleus RNA binding breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 40 GBM - Glioblastoma multiforme(265;0.0135) GCTGGTGTTCCAGTAATGGTT 0.448000 6 49 0 0 1 0 0 SET 6418 broad.mit.edu 37 9 131455163 131455163 + Missense_Mutation SNP C C T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr9:131455163C>T ENST00000322030.8 + 5 752 c.395C>T c.(394-396)cCt>cTt p.P132L SET_ENST00000477806.1_3'UTR|SET_ENST00000409104.3_Missense_Mutation_p.P123L|SET_ENST00000372692.4_Missense_Mutation_p.P145L|SET_ENST00000372688.4_Missense_Mutation_p.P121L NM_003011.3 NP_003002.2 Q01105 SET_HUMAN SET nuclear oncogene 145 DNA replication|mRNA metabolic process|negative regulation of histone acetylation|negative regulation of neuron apoptosis|negative regulation of transcription, DNA-dependent|nucleocytoplasmic transport|nucleosome assembly|nucleosome disassembly cytosol|endoplasmic reticulum|nucleoplasm|perinuclear region of cytoplasm|protein complex histone binding|protein phosphatase inhibitor activity|protein phosphatase type 2A regulator activity endometrium(2)|kidney(1)|lung(2) 5 Myeloproliferative disorder(178;0.204) GBM - Glioblastoma multiforme(294;3.1e-09) GATGAAAATCCTTACTTTGAA 0.333000 T NUP214 AML 4 29 0 0 1 0 0 SPTBN5 51332 broad.mit.edu 37 15 42172063 42172063 + Splice_Site SNP C C T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr15:42172063C>T ENST00000320955.6 - 15 3039 c.e15-1 NM_016642.2 NP_057726.4 Q9NRC6 SPTN5_HUMAN spectrin, beta, non-erythrocytic 5 actin cytoskeleton organization|actin filament capping|axon guidance cytosol|membrane|spectrin NS(1)|breast(1)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(6)|lung(18)|ovary(5)|prostate(8)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 62 all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173) all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908) TGAGGAAGTTCTAGGGAAAAG 0.562000 14 33 0 0 1 0 0 MAP3K4 4216 broad.mit.edu 37 6 161508766 161508766 + Missense_Mutation SNP C C T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr6:161508766C>T ENST00000392142.4 + 10 2751 c.2603C>T c.(2602-2604)aCt>aTt p.T868I MAP3K4_ENST00000348824.7_Missense_Mutation_p.T868I|MAP3K4_ENST00000366919.2_Missense_Mutation_p.T868I|MAP3K4_ENST00000366920.2_Missense_Mutation_p.T868I NM_005922.2 NP_005913.2 Q9Y6R4 M3K4_HUMAN mitogen-activated protein kinase kinase kinase 4 868 activation of MAPKK activity|JNK cascade|positive regulation of JUN kinase activity perinuclear region of cytoplasm ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein binding breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|lung(28)|ovary(3)|skin(2)|stomach(1) 77 Breast(66;0.000776)|Ovarian(120;0.0367)|Prostate(117;0.0771) OV - Ovarian serous cystadenocarcinoma(65;1.85e-18)|BRCA - Breast invasive adenocarcinoma(81;3.04e-05) GTTCCAGACACTCTTGCTGAG 0.393000 23 81 0 0 1 0 0 TMPRSS15 5651 broad.mit.edu 37 21 19737500 19737500 + Missense_Mutation SNP G G A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr21:19737500G>A ENST00000284885.3 - 7 763 c.730C>T c.(730-732)Cca>Tca p.P244S NM_002772.2 NP_002763.2 P98073 ENTK_HUMAN transmembrane protease, serine 15 244 CUB 1. proteolysis brush border|integral to membrane scavenger receptor activity|serine-type endopeptidase activity NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(19)|lung(36)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1) 85 GAAGGTTTTGGATAATGAGTA 0.368000 21 85 0 0 1 0 0 CLCA4 22802 broad.mit.edu 37 1 87029358 87029358 + Missense_Mutation SNP C C T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr1:87029358C>T ENST00000370563.3 + 4 505 c.463C>T c.(463-465)Cat>Tat p.H155Y CLCA4_ENST00000263723.5_5'UTR NM_012128.3 NP_036260.2 Q14CN2 CLCA4_HUMAN chloride channel accessory 4 155 apical plasma membrane|extracellular region|integral to plasma membrane chloride channel activity breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 44 Lung NSC(277;0.238) all cancers(265;0.0202)|Epithelial(280;0.0404) ACTGTTTGTCCATGAGTGGGC 0.398000 16 46 0 0 1 0 0 RAG2 5897 broad.mit.edu 37 11 36615273 36615273 + Missense_Mutation SNP C C T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr11:36615273C>T ENST00000311485.3 - 2 607 c.446G>A c.(445-447)gGg>gAg p.G149E NM_000536.3|NM_001243785.1|NM_001243786.1 NP_000527.2|NP_001230714.1|NP_001230715.1 P55895 RAG2_HUMAN recombination activating gene 2 149 chromatin modification|pre-B cell allelic exclusion|somatic diversification of immunoglobulins|T cell differentiation in thymus|V(D)J recombination nucleus chromatin binding|DNA binding|endonuclease activity|methylated histone residue binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-4,5-bisphosphate binding|zinc ion binding breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|pancreas(2)|prostate(1)|skin(4) 32 all_lung(20;0.226) all_hematologic(20;0.00756) CATACTTTTCCCTCGGCTGTA 0.453000 Familial Hemophagocytic Lymphohistiocytosis 26 125 0 0 1 0 0 CACNA1A 773 broad.mit.edu 37 19 13445223 13445223 + Silent SNP G G A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr19:13445223G>A ENST00000360228.5 - 8 1166 c.1167C>T c.(1165-1167)ctC>ctT p.L389L CACNA1A_ENST00000573710.2_Silent_p.L389L NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2 NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2 O00555 CAC1A_HUMAN calcium channel, voltage-dependent, P/Q type, alpha 1A subunit 389 Binding to the beta subunit (By similarity). L -> F (in EA2; dbSNP:rs121908239). cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion cytoplasm|nucleus syntaxin binding breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1) 42 OV - Ovarian serous cystadenocarcinoma(19;5.07e-21) Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230) TGTACCCATTGAGCTCACGTT 0.542000 17 64 0 0 1 0 0 CENPJ 55835 broad.mit.edu 37 13 25486139 25486139 + Silent SNP G G A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr13:25486139G>A ENST00000381884.4 - 3 698 c.513C>T c.(511-513)ctC>ctT p.L171L CENPJ_ENST00000545981.1_Silent_p.L171L NM_018451.4 NP_060921.3 Q9HC77 CENPJ_HUMAN centromere protein J 171 cell division|centriole replication|G2/M transition of mitotic cell cycle|microtubule nucleation|microtubule polymerization centriole|cytosol|gamma-tubulin small complex|microtubule protein domain specific binding|tubulin binding endometrium(5)|kidney(4)|large_intestine(14)|lung(13)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 47 Lung SC(185;0.0225)|Breast(139;0.0602) all cancers(112;0.00793)|Epithelial(112;0.0411)|OV - Ovarian serous cystadenocarcinoma(117;0.139) GTTCTTCCATGAGTCTCTGTA 0.408000 24 84 0 0 1 0 0 LRRK1 79705 broad.mit.edu 37 15 101593579 101593579 + Silent SNP C C T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr15:101593579C>T ENST00000284395.5 + 27 4399 c.3999C>T c.(3997-3999)ctC>ctT p.L1333L LRRK1_ENST00000388948.3_Silent_p.L1336L|RP11-505E24.2_ENST00000559857.1_RNA Q38SD2 LRRK1_HUMAN leucine-rich repeat kinase 1 1336 Protein kinase. small GTPase mediated signal transduction mitochondrion ATP binding|GTP binding|metal ion binding|protein binding|protein serine/threonine kinase activity breast(2)|central_nervous_system(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(25)|ovary(4)|prostate(1)|skin(1) 72 Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094) OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23) CCCTGGAGCTCGCGCCGCTCA 0.721000 4 36 0 0 1 0 0 TOX2 84969 broad.mit.edu 37 20 42683150 42683150 + Missense_Mutation SNP G G A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr20:42683150G>A ENST00000358131.5 + 5 1098 c.890G>A c.(889-891)gGa>gAa p.G297E TOX2_ENST00000435864.2_Missense_Mutation_p.G166E|TOX2_ENST00000423191.1_Missense_Mutation_p.G246E|TOX2_ENST00000341197.3_Missense_Mutation_p.G288E|TOX2_ENST00000372999.1_Missense_Mutation_p.G246E NM_001098798.1 NP_001092268.1 Q96NM4 TOX2_HUMAN TOX high mobility group box family member 2 297 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2) 26 Myeloproliferative disorder(115;0.00452) COAD - Colon adenocarcinoma(18;0.00189) GACAGCCTGGGAGAGGAACAG 0.567000 10 28 0 0 1 0 0 LINC01098 285501 broad.mit.edu 37 4 178897055 178897055 + Silent SNP G G A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr4:178897055G>A ENST00000507870.1 + 5 720 c.258G>A c.(256-258)caG>caA p.Q86Q lung(8)|prostate(1) 9 AGAGCCTACAGAATGTGTCTG 0.398000 32 110 0 0 1 0 0 PTPRO 5800 broad.mit.edu 37 12 15734639 15734639 + Silent SNP C C T rs139672715 TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr12:15734639C>T ENST00000281171.4 + 23 3489 c.3159C>T c.(3157-3159)ttC>ttT p.F1053F PTPRO_ENST00000544244.1_Silent_p.F214F|PTPRO_ENST00000445537.2_Silent_p.F242F|PTPRO_ENST00000442921.2_Silent_p.F242F|PTPRO_ENST00000542557.1_Silent_p.F214F|PTPRO_ENST00000348962.2_Silent_p.F1025F NM_030667.2 NP_109592.1 Q16827 PTPRO_HUMAN protein tyrosine phosphatase, receptor type, O 1053 Tyrosine-protein phosphatase. integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity NS(2)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(11)|lung(30)|ovary(2)|prostate(1)|skin(17)|upper_aerodigestive_tract(1) 74 Hepatocellular(102;0.244) ACTGGCCATTCACGGAAGAAC 0.433000 19 81 0 0 1 0 0 PIP5K1B 8395 broad.mit.edu 37 9 71549834 71549834 + Silent SNP G G A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr9:71549834G>A ENST00000265382.3 + 13 1535 c.1230G>A c.(1228-1230)cgG>cgA p.R410R PIP5K1B_ENST00000541509.1_Silent_p.R410R NM_003558.2 NP_003549.1 O14986 PI51B_HUMAN phosphatidylinositol-4-phosphate 5-kinase, type I, beta 410 endomembrane system|membrane|uropod 1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|protein binding breast(1)|large_intestine(2)|stomach(1) 4 Lung(182;0.133) CTAAGAAACGGTGCAATTCAA 0.408000 16 55 0 0 1 0 0 SWI5 375757 broad.mit.edu 37 9 131038500 131038500 + Missense_Mutation SNP C C T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr9:131038500C>T ENST00000320188.4 + 1 76 c.76C>T c.(76-78)Cgg>Tgg p.R26W NM_001040011.1 NP_001035100.1 Q1ZZU3 SWI5_HUMAN SWI5 recombination repair homolog (yeast) 26 double-strand break repair via homologous recombination Swi5-Sfr1 complex protein binding CCGCCCACCTCGGGAGAGGGG 0.672000 8 42 0 0 1 0 0 LPHN2 23266 broad.mit.edu 37 1 82416062 82416062 + Missense_Mutation SNP C C T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr1:82416062C>T ENST00000370728.1 + 9 2033 c.1388C>T c.(1387-1389)cCc>cTc p.P463L LPHN2_ENST00000370717.2_Missense_Mutation_p.P463L|LPHN2_ENST00000370725.1_Missense_Mutation_p.P463L|LPHN2_ENST00000370713.1_Missense_Mutation_p.P463L|LPHN2_ENST00000370727.1_Missense_Mutation_p.P463L|LPHN2_ENST00000359929.3_Missense_Mutation_p.P463L|LPHN2_ENST00000370721.1_Intron|LPHN2_ENST00000335786.5_Missense_Mutation_p.P463L|LPHN2_ENST00000370730.1_Missense_Mutation_p.P463L|LPHN2_ENST00000319517.6_Missense_Mutation_p.P463L|LPHN2_ENST00000370715.1_Missense_Mutation_p.P463L|LPHN2_ENST00000394879.1_Missense_Mutation_p.P463L|LPHN2_ENST00000271029.4_Missense_Mutation_p.P463L|LPHN2_ENST00000469377.2_Intron|LPHN2_ENST00000370723.1_Missense_Mutation_p.P463L O95490 LPHN2_HUMAN latrophilin 2 463 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5) 119 all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248) AATATTTTTCCCCTGCCAGAG 0.458000 23 29 0 0 1 0 0 ATF7IP2 80063 broad.mit.edu 37 16 10551263 10551263 + Missense_Mutation SNP A A G TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr16:10551263A>G ENST00000396560.2 + 7 1456 c.1229A>G c.(1228-1230)aAt>aGt p.N410S ATF7IP2_ENST00000543967.1_Intron|ATF7IP2_ENST00000396559.1_Missense_Mutation_p.N410S|ATF7IP2_ENST00000356427.2_Missense_Mutation_p.N410S|ATF7IP2_ENST00000324570.5_Missense_Mutation_p.N410S NM_024997.3 NP_079273.2 Q5U623 MCAF2_HUMAN activating transcription factor 7 interacting protein 2 410 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus large_intestine(3) 3 TTGGATAAGAATCTTGAGTCA 0.318000 33 83 0 0 1 0 0 RASA4CP 401331 broad.mit.edu 37 7 44073693 44073693 + RNA SNP G G A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr7:44073693G>A ENST00000446874.1 - 0 419 GCACAGCAGGGCTCACGGTCC 0.622000 3 6 0 0 1 0 0 TRAV26-2 28656 broad.mit.edu 37 14 22671075 22671075 + RNA SNP C C T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr14:22671075C>T ENST00000390460.1 + 0 140 ATCAGTGGAACTGATTACATA 0.463000 12 54 0 0 1 0 0 NBEAL2 23218 broad.mit.edu 37 3 47039692 47039692 + Missense_Mutation SNP C C T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr3:47039692C>T ENST00000450053.3 + 21 3273 c.3094C>T c.(3094-3096)Ctc>Ttc p.L1032F NBEAL2_ENST00000383740.2_5'UTR|NBEAL2_ENST00000292309.5_Missense_Mutation_p.L1032F NM_015175.2 NP_055990.1 Q6ZNJ1 NBEL2_HUMAN neurobeachin-like 2 1032 binding NS(1)|breast(1)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(9)|lung(9)|ovary(4)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 51 Acute lymphoblastic leukemia(5;0.0534) BRCA - Breast invasive adenocarcinoma(193;0.0012)|KIRC - Kidney renal clear cell carcinoma(197;0.00575)|Kidney(197;0.00656) CCTCTGGACCCTCAGTGACTT 0.617000 6 19 0 0 1 0 0 SCN5A 6331 broad.mit.edu 37 3 38645360 38645360 + Missense_Mutation SNP G G A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr3:38645360G>A ENST00000413689.1 - 12 1926 c.1733C>T c.(1732-1734)cCc>cTc p.P578L SCN5A_ENST00000425664.1_Missense_Mutation_p.P578L|SCN5A_ENST00000423572.2_Missense_Mutation_p.P578L|SCN5A_ENST00000414099.2_Missense_Mutation_p.P578L|SCN5A_ENST00000333535.4_Missense_Mutation_p.P578L|SCN5A_ENST00000455624.2_Missense_Mutation_p.P578L|SCN5A_ENST00000451551.2_Missense_Mutation_p.P578L|SCN5A_ENST00000450102.2_Missense_Mutation_p.P578L|SCN5A_ENST00000449557.2_Missense_Mutation_p.P578L|SCN5A_ENST00000443581.1_Missense_Mutation_p.P578L NM_001099404.1|NM_001160160.1 NP_001092874.1|NP_001153632.1 Q14524 SCN5A_HUMAN sodium channel, voltage-gated, type V, alpha subunit 578 blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction sarcolemma|voltage-gated sodium channel complex protein binding|voltage-gated sodium channel activity NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4) 107 Medulloblastoma(35;0.163) KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1) Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661) CGAGGTTCCGGGACTGGGCTG 0.647000 27 102 0 0 1 0 0 RBBP6 5930 broad.mit.edu 37 16 24578724 24578724 + Missense_Mutation SNP C C T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr16:24578724C>T ENST00000319715.4 + 15 2282 c.1850C>T c.(1849-1851)tCa>tTa p.S617L RBBP6_ENST00000381039.3_Intron|RBBP6_ENST00000348022.2_Missense_Mutation_p.S617L NM_006910.4 NP_008841.2 Q7Z6E9 RBBP6_HUMAN retinoblastoma binding protein 6 617 protein ubiquitination involved in ubiquitin-dependent protein catabolic process chromosome|nucleolus|ubiquitin ligase complex nucleic acid binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(1) 46 GBM - Glioblastoma multiforme(48;0.0518) CCTTGGGTATCATCAGGAGTG 0.507000 49 201 0 0 1 0 0 DSEL 92126 broad.mit.edu 37 18 65180387 65180387 + Missense_Mutation SNP C C T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr18:65180387C>T ENST00000310045.7 - 2 2962 c.1489G>A c.(1489-1491)Gaa>Aaa p.E497K CTD-2541J13.2_ENST00000583493.1_RNA NM_032160.2 NP_115536.1 Q8IZU8 DSEL_HUMAN dermatan sulfate epimerase-like 487 integral to membrane isomerase activity|sulfotransferase activity NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(25)|lung(23)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 74 Esophageal squamous(42;0.129) TAGAGAGCTTCAGAAACAAAT 0.453000 23 95 0 0 1 0 0 SEC16A 9919 broad.mit.edu 37 9 139371256 139371256 + Missense_Mutation SNP G G A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr9:139371256G>A ENST00000313050.7 - 1 885 c.812C>T c.(811-813)cCc>cTc p.P271L SEC16A_ENST00000371706.3_Missense_Mutation_p.P93L|SEC16A_ENST00000290037.6_Missense_Mutation_p.P93L|SEC16A_ENST00000431893.2_Missense_Mutation_p.P93L NM_014866.1 NP_055681.1 O15027 SC16A_HUMAN SEC16 homolog A (S. cerevisiae) 93 protein transport|vesicle-mediated transport endoplasmic reticulum membrane|Golgi membrane breast(1)|central_nervous_system(3)|endometrium(7)|kidney(5)|large_intestine(15)|lung(14)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 Myeloproliferative disorder(178;0.0511) Epithelial(140;2.9e-06)|OV - Ovarian serous cystadenocarcinoma(145;5.88e-06) GGCTGCTGGGGGAGCCACCAG 0.597000 6 25 0 0 1 0 0 ETV7 51513 broad.mit.edu 37 6 36334677 36334677 + Missense_Mutation SNP C C T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr6:36334677C>T ENST00000373738.1 - 6 1563 c.718G>A c.(718-720)Gaa>Aaa p.E240K ETV7_ENST00000373737.4_Missense_Mutation_p.E218K|ETV7_ENST00000340181.4_Missense_Mutation_p.E295K|ETV7_ENST00000538992.1_Missense_Mutation_p.E144K|ETV7_ENST00000339796.5_Missense_Mutation_p.E295K NM_001207036.1 NP_001193965.1 Q9Y603 ETV7_HUMAN ets variant 7 295 organ morphogenesis|transcription from RNA polymerase II promoter nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|skin(4) 10 TGCCCCGGTTCCTTCTTAATG 0.542000 75 277 0 0 1 0 0 PPRC1 23082 broad.mit.edu 37 10 103901026 103901026 + Missense_Mutation SNP C C T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr10:103901026C>T ENST00000278070.2 + 5 2800 c.2761C>T c.(2761-2763)Cca>Tca p.P921S PPRC1_ENST00000413464.2_Missense_Mutation_p.P921S NM_015062.3 NP_055877.3 Q5VV67 PPRC1_HUMAN peroxisome proliferator-activated receptor gamma, coactivator-related 1 921 Pro-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleotide binding|RNA binding central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(10)|lung(19)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 56 Colorectal(252;0.122) Epithelial(162;4.97e-08)|all cancers(201;8.99e-07) TGCCCCCTTGCCATCCTGGCC 0.592000 16 72 0 0 1 0 0 BCLAF1 9774 broad.mit.edu 37 6 136597327 136597327 + Missense_Mutation SNP C C T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr6:136597327C>T ENST00000531224.1 - 5 1588 c.1336G>A c.(1336-1338)Ggc>Agc p.G446S BCLAF1_ENST00000527536.1_Missense_Mutation_p.G446S|BCLAF1_ENST00000353331.4_Missense_Mutation_p.G444S|BCLAF1_ENST00000527759.1_Missense_Mutation_p.G444S|BCLAF1_ENST00000392348.2_Missense_Mutation_p.G444S|BCLAF1_ENST00000530767.1_Intron NM_001077441.1|NM_014739.2 NP_001070909.1|NP_055554.1 Q9NYF8 BCLF1_HUMAN BCL2-associated transcription factor 1 446 induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleolus DNA binding|protein binding haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1) 9 Colorectal(23;0.24) GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331) TCTCTATTGCCTTTCAGTGAA 0.393000 10 206 0 0 1 0 0 ABLIM2 84448 broad.mit.edu 37 4 8009831 8009831 + Missense_Mutation SNP C C T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr4:8009831C>T ENST00000318888.4 - 15 1547 c.676G>A c.(676-678)Gac>Aac p.D226N ABLIM2_ENST00000546334.1_Missense_Mutation_p.D450N|ABLIM2_ENST00000407564.3_Missense_Mutation_p.D440N|ABLIM2_ENST00000341937.5_Missense_Mutation_p.D491N|ABLIM2_ENST00000361581.5_Missense_Mutation_p.D491N|ABLIM2_ENST00000505872.1_Missense_Mutation_p.D439N|ABLIM2_ENST00000514025.1_Missense_Mutation_p.D226N|ABLIM2_ENST00000447017.2_Missense_Mutation_p.D525N|ABLIM2_ENST00000428004.2_Missense_Mutation_p.D451N|ABLIM2_ENST00000296372.8_Missense_Mutation_p.D492N|ABLIM2_ENST00000361737.5_Missense_Mutation_p.D450N|ABLIM2_ENST00000545242.1_Missense_Mutation_p.D491N Q6H8Q1 ABLM2_HUMAN actin binding LIM protein family, member 2 491 LIM zinc-binding 4. axon guidance|cytoskeleton organization actin cytoskeleton|cytoplasm|intermediate filament cytoskeleton|nucleus actin binding|zinc ion binding p.D525N(1) NS(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(6)|pancreas(3)|prostate(2)|urinary_tract(1) 25 GGGTCTCTGTCGGTCCCGCTG 0.562000 35 112 0 0 1 0 0 ADNP 23394 broad.mit.edu 37 20 49509384 49509384 + Missense_Mutation SNP G G A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr20:49509384G>A ENST00000396029.3 - 5 2434 c.1867C>T c.(1867-1869)Ctt>Ttt p.L623F ADNP_ENST00000371602.4_Missense_Mutation_p.L623F|ADNP_ENST00000396032.3_Missense_Mutation_p.L623F|ADNP_ENST00000349014.3_Missense_Mutation_p.L623F NM_015339.2 NP_056154.1 Q9H2P0 ADNP_HUMAN activity-dependent neuroprotector homeobox 623 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(4)|endometrium(7)|kidney(1)|large_intestine(13)|lung(7)|ovary(2)|prostate(2)|skin(2) 39 AGAGGACAAAGGGTTTTCCCA 0.443000 80 240 0 0 1 0 0 MYH4 4622 broad.mit.edu 37 17 10348126 10348126 + Missense_Mutation SNP C C T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr17:10348126C>T ENST00000255381.2 - 38 5667 c.5557G>A c.(5557-5559)Gaa>Aaa p.E1853K CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA NM_017533.2 NP_060003.2 Q9Y623 MYH4_HUMAN myosin, heavy chain 4, skeletal muscle 1853 muscle filament sliding muscle myosin complex|myosin filament|sarcomere actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 149 TAAGTGAGTTCCTTCACTCTT 0.428000 32 112 0 0 1 0 0 ERAP1 51752 broad.mit.edu 37 5 96139153 96139153 + Silent SNP G G A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr5:96139153G>A ENST00000296754.3 - 2 734 c.477C>T c.(475-477)ttC>ttT p.F159F ERAP1_ENST00000443439.2_Silent_p.F159F NM_016442.3 NP_057526.3 Q9NZ08 ERAP1_HUMAN endoplasmic reticulum aminopeptidase 1 159 angiogenesis|antigen processing and presentation of endogenous peptide antigen via MHC class I|fat cell differentiation|membrane protein ectodomain proteolysis|regulation of blood pressure|regulation of innate immune response|response to bacterium cytosol|endoplasmic reticulum lumen|endoplasmic reticulum membrane|extracellular region|integral to membrane aminopeptidase activity|interleukin-1, Type II receptor binding|interleukin-6 receptor binding|metalloexopeptidase activity|zinc ion binding endometrium(7)|large_intestine(5)|lung(3)|ovary(1)|pancreas(1)|stomach(2) 19 all_cancers(142;1.75e-06)|all_epithelial(76;3.08e-09)|all_lung(232;0.000435)|Lung NSC(167;0.000601)|Ovarian(225;0.024)|Colorectal(57;0.0432)|Breast(839;0.244) all cancers(79;7.26e-15)|COAD - Colon adenocarcinoma(37;0.071) AAAATCCGTGGAAAGTCTCCG 0.478000 22 86 0 0 1 0 0 PCDHB16 57717 broad.mit.edu 37 5 140563687 140563687 + Missense_Mutation SNP C C T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr5:140563687C>T ENST00000361016.2 + 1 2708 c.1553C>T c.(1552-1554)tCg>tTg p.S518L NM_020957.1 NP_066008.1 Q9NRJ7 PCDBG_HUMAN 518 Cadherin 5. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to membrane|plasma membrane calcium ion binding breast(1)|endometrium(10)|kidney(3)|large_intestine(14)|lung(29)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|urinary_tract(1) 69 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) GCCCTCAGGTCGCTGGACTAC 0.697000 39 48 0 0 1 0 0 RYR1 6261 broad.mit.edu 37 19 39016011 39016011 + Missense_Mutation SNP C C T rs147058802 TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr19:39016011C>T ENST00000355481.4 + 70 10611 c.10480C>T c.(10480-10482)Cgg>Tgg p.R3494W RYR1_ENST00000360985.3_Missense_Mutation_p.R3499W|RYR1_ENST00000359596.3_Missense_Mutation_p.R3499W NM_000540.2|NM_001042723.1 NP_000531.2|NP_001036188.1 P21817 RYR1_HUMAN ryanodine receptor 1 (skeletal) 3499 muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7) 285 all_cancers(60;7.91e-06) Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272) Dantrolene(DB01219) GAAGAAGCGCCGGGGGGACCG 0.632000 18 75 0 0 1 0 0 SFRP2 6423 broad.mit.edu 37 4 154702753 154702753 + Silent SNP G G A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr4:154702753G>A ENST00000274063.4 - 3 1022 c.738C>T c.(736-738)acC>acT p.T246T NM_003013.2 NP_003004.1 Q96HF1 SFRP2_HUMAN secreted frizzled-related protein 2 246 NTR. 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 fibronectin binding|integrin binding|PDZ domain binding|receptor agonist activity|Wnt receptor activity|Wnt-protein binding 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) TCTCCTCACAGGTGCACTGCA 0.557000 19 74 0 0 1 0 0 OR10J1 26476 broad.mit.edu 37 1 159410378 159410378 + Missense_Mutation SNP C C G TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr1:159410378C>G ENST00000423932.3 + 1 867 c.830C>G c.(829-831)aCc>aGc p.T277S RP11-550P17.5_ENST00000431862.1_RNA NM_012351.2 NP_036483.2 P30954 O10J1_HUMAN olfactory receptor, family 10, subfamily J, member 1 277 sensory perception of smell|single fertilization integral to plasma membrane olfactory receptor activity endometrium(2)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2)|stomach(1) 25 all_hematologic(112;0.0429) TCAGAGAACACCAGAGAACAT 0.512000 59 67 0 0 1 0 0 ALOX15B 247 broad.mit.edu 37 17 7950012 7950012 + Silent SNP C C T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr17:7950012C>T ENST00000380183.4 + 9 1366 c.1227C>T c.(1225-1227)acC>acT p.T409T ALOX15B_ENST00000572022.1_Silent_p.T409T|ALOX15B_ENST00000573359.1_Intron|ALOX15B_ENST00000380173.2_Intron NM_001141.2 NP_001132.2 O15296 LX15B_HUMAN arachidonate 15-lipoxygenase, type B 409 Lipoxygenase. induction of apoptosis|leukotriene biosynthetic process|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of growth|prostate gland development|regulation of epithelial cell differentiation cytoplasm arachidonate 15-lipoxygenase activity|iron ion binding|lipoxygenase activity NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(1) 24 CCCGATACACCCTGCACATCA 0.627000 9 24 0 0 1 0 0 METTL25 84190 broad.mit.edu 37 12 82796832 82796832 + Missense_Mutation SNP A A G TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr12:82796832A>G ENST00000248306.3 + 5 1271 c.1202A>G c.(1201-1203)aAc>aGc p.N401S METTL25_ENST00000547357.1_3'UTR NM_032230.2 NP_115606.2 methyltransferase like 25 TTTACCTCCAACTCTGAAATC 0.383000 12 45 0 0 1 0 0 HECTD4 283450 broad.mit.edu 37 12 112654696 112654696 + Silent SNP G G A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr12:112654696G>A ENST00000550722.1 - 47 7223 c.6828C>T c.(6826-6828)atC>atT p.I2276I HECTD4_ENST00000377560.5_Silent_p.I2250I|HECTD4_ENST00000430131.2_Silent_p.I2000I NM_001109662.3 NP_001103132.3 HECT domain containing E3 ubiquitin protein ligase 4 p.I2000I(1)|p.I2250I(1) CATAGGAAACGATTTCAATTT 0.493000 21 77 0 0 1 0 0 KCNH1 3756 broad.mit.edu 37 1 210970866 210970866 + Silent SNP C C T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr1:210970866C>T ENST00000367007.4 - 9 1987 c.1818G>A c.(1816-1818)gaG>gaA p.E606E KCNH1_ENST00000271751.4_Silent_p.E633E NM_002238.3|NM_172362.2 NP_002229.1|NP_758872.1 O95259 KCNH1_HUMAN potassium voltage-gated channel, subfamily H (eag-related), member 1 633 myoblast fusion|regulation of transcription, DNA-dependent voltage-gated potassium channel complex calmodulin binding|delayed rectifier potassium channel activity|two-component sensor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|lung(35)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 68 OV - Ovarian serous cystadenocarcinoma(81;0.0109)|all cancers(67;0.141)|Epithelial(68;0.185) TGGCCACCACCTCATCATCTT 0.557000 56 67 0 0 1 0 0 EHHADH 1962 broad.mit.edu 37 3 184910033 184910033 + Missense_Mutation SNP G G A rs140662313 TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr3:184910033G>A ENST00000231887.3 - 7 2228 c.2153C>T c.(2152-2154)tCc>tTc p.S718F EHHADH_ENST00000456310.1_Missense_Mutation_p.S622F NM_001166415.1|NM_001966.3 NP_001159887.1|NP_001957.2 Q08426 ECHP_HUMAN enoyl-CoA, hydratase/3-hydroxyacyl CoA dehydrogenase 718 peroxisome 3-hydroxyacyl-CoA dehydrogenase activity|coenzyme binding|dodecenoyl-CoA delta-isomerase activity|enoyl-CoA hydratase activity breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|prostate(2)|skin(3) 24 all_cancers(143;4.04e-11)|Ovarian(172;0.0339)|Breast(254;0.247) Epithelial(37;1.98e-32)|OV - Ovarian serous cystadenocarcinoma(80;5.55e-21) NADH(DB00157) ACTGCTAGGGGAGCCTGCCAA 0.433000 29 72 0 0 1 0 0 KDM1A 23028 broad.mit.edu 37 1 23381647 23381647 + Silent SNP C C T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr1:23381647C>T ENST00000400181.4 + 6 980 c.876C>T c.(874-876)ccC>ccT p.P292P KDM1A_ENST00000542151.1_Silent_p.P292P|RP1-184J9.2_ENST00000427154.1_RNA|KDM1A_ENST00000356634.3_Silent_p.P272P NM_001009999.2 NP_001009999.1 O60341 KDM1A_HUMAN lysine (K)-specific demethylase 1A 272 blood coagulation|muscle cell development|negative regulation of apoptosis|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of protein binding|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nuclear chromatin androgen receptor binding|chromatin binding|enzyme binding|flavin adenine dinucleotide binding|histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-K9 specific)|ligand-dependent nuclear receptor transcription coactivator activity|MyoD binding|oxidoreductase activity|p53 binding|transcription regulatory region DNA binding breast(2)|central_nervous_system(2)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 23 GGATAAAACCCCTACCAAGTA 0.378000 83 103 0 0 1 0 0 C3 718 broad.mit.edu 37 19 6682195 6682195 + Silent SNP G G A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr19:6682195G>A ENST00000245907.6 - 34 4310 c.4218C>T c.(4216-4218)tcC>tcT p.S1406S NM_000064.2 NP_000055.2 P01024 CO3_HUMAN complement component 3 1406 complement activation, alternative pathway|complement activation, classical pathway|G-protein coupled receptor protein signaling pathway|inflammatory response|positive regulation vascular endothelial growth factor production extracellular space endopeptidase inhibitor activity|receptor binding breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3) 72 GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661) CAGTCATCATGGATATGTCCA 0.542000 19 78 0 0 1 0 0 PROL1 58503 broad.mit.edu 37 4 71275418 71275418 + Missense_Mutation SNP C C T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr4:71275418C>T ENST00000399575.2 + 3 547 c.373C>T c.(373-375)Cct>Tct p.P125S PROL1_ENST00000514338.1_3'UTR NM_021225.4 NP_067048.4 Q99935 PROL1_HUMAN proline rich, lacrimal 1 125 Pro-rich. regulation of sensory perception of pain extracellular region endopeptidase inhibitor activity endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(3) 15 all_hematologic(202;0.196) ACCCCCATTTCCTCCTATTCC 0.413000 36 112 0 0 1 0 0 OR5K4 403278 broad.mit.edu 37 3 98073443 98073443 + Missense_Mutation SNP C C T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr3:98073443C>T ENST00000354924.2 + 1 746 c.746C>T c.(745-747)tCa>tTa p.S249L RP11-325B23.2_ENST00000508616.1_lincRNA NM_001005517.1 NP_001005517.1 A6NMS3 OR5K4_HUMAN olfactory receptor, family 5, subfamily K, member 4 249 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(13)|upper_aerodigestive_tract(1) 21 CTCTCTGTCTCAATATTTTAC 0.358000 23 79 0 0 1 0 0 ZBTB44 29068 broad.mit.edu 37 11 130108498 130108498 + Missense_Mutation SNP C C T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr11:130108498C>T ENST00000525842.1 - 4 1475 c.1108G>A c.(1108-1110)Gaa>Aaa p.E370K ZBTB44_ENST00000357899.4_Missense_Mutation_p.E370K|ZBTB44_ENST00000530205.1_Missense_Mutation_p.E370K|ZBTB44_ENST00000397753.1_Missense_Mutation_p.E370K NM_014155.4 NP_054874.3 Q8NCP5 ZBT44_HUMAN zinc finger and BTB domain containing 44 370 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding autonomic_ganglia(1)|breast(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(2) 15 all_hematologic(175;0.0429) Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837) OV - Ovarian serous cystadenocarcinoma(99;0.0192)|Lung(977;0.235) TGAACATTTTCCAATCTAAAA 0.393000 5 28 0 0 1 0 0 PPP1R13L 10848 broad.mit.edu 37 19 45898706 45898706 + Missense_Mutation SNP G G A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr19:45898706G>A ENST00000418234.2 - 7 1420 c.1342C>T c.(1342-1344)Cct>Tct p.P448S PPP1R13L_ENST00000360957.5_Missense_Mutation_p.P448S NM_001142502.1 NP_001135974.1 Q8WUF5 IASPP_HUMAN protein phosphatase 1, regulatory subunit 13 like 448 Pro-rich. apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus transcription corepressor activity|transcription factor binding breast(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 26 all_neural(266;0.224)|Ovarian(192;0.231) OV - Ovarian serous cystadenocarcinoma(262;0.0182) TCGTTCACAGGGGGCCATGTC 0.642000 2 0 0 0 1 0 0 LTBP1 4052 broad.mit.edu 37 2 33505195 33505195 + Missense_Mutation SNP G G A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr2:33505195G>A ENST00000404816.2 + 19 3435 c.3082G>A c.(3082-3084)Gga>Aga p.G1028R LTBP1_ENST00000354476.3_Missense_Mutation_p.G1029R|LTBP1_ENST00000418533.2_Missense_Mutation_p.G702R|LTBP1_ENST00000404525.1_Missense_Mutation_p.G649R|LTBP1_ENST00000402934.1_Missense_Mutation_p.G649R|LTBP1_ENST00000407925.1_Missense_Mutation_p.G702R|LTBP1_ENST00000390003.4_Missense_Mutation_p.G703R Q14766 LTBP1_HUMAN latent transforming growth factor beta binding protein 1 1028 EGF-like 7; calcium-binding (Potential). negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta proteinaceous extracellular matrix calcium ion binding|growth factor binding|transforming growth factor beta receptor activity breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3) 108 all_hematologic(175;0.115) Medulloblastoma(90;0.215) CTGCACAGAAGGATTCCGAGG 0.428000 22 68 0 0 1 0 0 MC5R 4161 broad.mit.edu 37 18 13826736 13826736 + Silent SNP G G A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr18:13826736G>A ENST00000324750.3 + 1 1194 c.972G>A c.(970-972)agG>agA p.R324R NM_005913.2 NP_005904.1 P33032 MC5R_HUMAN melanocortin 5 receptor 324 G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cAMP biosynthetic process integral to plasma membrane melanocortin receptor activity|protein binding NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(23)|ovary(4)|upper_aerodigestive_tract(1) 41 TTCCCAGAAGGGATTAAGCAC 0.522000 14 70 0 0 1 0 0 KSR2 283455 broad.mit.edu 37 12 118198896 118198896 + Silent SNP G G A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr12:118198896G>A ENST00000425217.1 - 4 873 c.819C>T c.(817-819)atC>atT p.I273I KSR2_ENST00000339824.5_Silent_p.I302I NM_173598.4 NP_775869.3 Q6VAB6 KSR2_HUMAN kinase suppressor of ras 2 302 Pro-rich. 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) TGAATCCCGGGATCAAGTGTA 0.662000 25 119 0 0 1 0 0 SLC7A2 6542 broad.mit.edu 37 8 17417986 17417986 + Missense_Mutation SNP C C T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr8:17417986C>T ENST00000470360.1 + 11 1682 c.1565C>T c.(1564-1566)tCc>tTc p.S522F SLC7A2_ENST00000522656.1_Missense_Mutation_p.S483F|SLC7A2_ENST00000398090.3_Missense_Mutation_p.S522F|SLC7A2_ENST00000004531.10_Missense_Mutation_p.S523F|SLC7A2_ENST00000494857.1_Missense_Mutation_p.S483F P52569 CTR2_HUMAN solute carrier family 7 (cationic amino acid transporter, y+ system), member 2 483 cellular amino acid metabolic process|ion transport cytoplasm|integral to plasma membrane|membrane fraction basic amino acid transmembrane transporter activity breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|stomach(1) 25 Colorectal(111;0.0577)|COAD - Colon adenocarcinoma(73;0.216) L-Lysine(DB00123)|L-Ornithine(DB00129) TTCTGCCCCTCCCTTCTGCCA 0.537000 50 114 0 0 1 0 0 NLRP7 199713 broad.mit.edu 37 19 55449566 55449566 + Missense_Mutation SNP G G A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr19:55449566G>A ENST00000588756.1 - 7 2461 c.1975C>T c.(1975-1977)Cgc>Tgc p.R659C NLRP7_ENST00000592784.1_Missense_Mutation_p.R659C|NLRP7_ENST00000328092.5_Intron|NLRP7_ENST00000590030.1_Missense_Mutation_p.R659C|NLRP7_ENST00000448121.2_Intron|NLRP7_ENST00000446217.1_Missense_Mutation_p.R687C|NLRP7_ENST00000340844.2_Missense_Mutation_p.R659C Q8WX94 NALP7_HUMAN NLR family, pyrin domain containing 7 659 ATP binding autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3) 73 GBM - Glioblastoma multiforme(193;0.0325) CGAAGAGAGCGAAGATCCTGC 0.498000 22 112 0 0 1 0 0 KMT2C 58508 broad.mit.edu 37 7 152007158 152007158 + Missense_Mutation SNP T T A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr7:152007158T>A ENST00000355193.2 - 6 960 c.742A>T c.(742-744)Act>Tct p.T248S KMT2C_ENST00000262189.6_Missense_Mutation_p.T248S lysine (K)-specific methyltransferase 2C GCCCAACAAGTGCCTAAAATG 0.373000 7 34 0 0 1 0 0 MARK4 57787 broad.mit.edu 37 19 45762442 45762442 + Missense_Mutation SNP C C T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr19:45762442C>T ENST00000300843.4 + 2 544 c.247C>T c.(247-249)Cgg>Tgg p.R83W MARK4_ENST00000262891.4_Missense_Mutation_p.R83W NM_031417.3 NP_113605.2 Q96L34 MARK4_HUMAN MAP/microtubule affinity-regulating kinase 4 83 Protein kinase. microtubule bundle formation|nervous system development|positive regulation of programmed cell death centrosome|neuron projection ATP binding|gamma-tubulin binding|microtubule binding|protein serine/threonine kinase activity|tau-protein kinase activity|ubiquitin binding NS(1)|biliary_tract(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 31 all_neural(266;0.224)|Ovarian(192;0.231) OV - Ovarian serous cystadenocarcinoma(262;0.0102) CCTCACTGGTCGGGAGGTGAG 0.617000 8 26 0 0 1 0 0 KRT16P6 353194 broad.mit.edu 37 17 16725522 16725522 + RNA SNP G G A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr17:16725522G>A ENST00000417510.1 - 0 371 agccaccaccgaagccagcac 0.617000 14 39 0 0 1 0 0 PGR 5241 broad.mit.edu 37 11 100933480 100933480 + Missense_Mutation SNP C C T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr11:100933480C>T ENST00000325455.5 - 4 3363 c.1910G>A c.(1909-1911)cGa>cAa p.R637Q PGR_ENST00000263463.5_Intron|PGR_ENST00000534013.1_Missense_Mutation_p.R43Q NM_000926.4|NM_001202474.1 NP_000917.3|NP_001189403.1 P06401 PRGR_HUMAN progesterone receptor 637 cell-cell signaling|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor cytoplasm|nucleoplasm enzyme binding|receptor binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|liver(1)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1) 36 Acute lymphoblastic leukemia(157;0.000885)|all_hematologic(158;0.014) LUSC - Lung squamous cell carcinoma(1;0.0387)|BRCA - Breast invasive adenocarcinoma(274;0.124)|OV - Ovarian serous cystadenocarcinoma(223;0.148)|Lung(307;0.164) Desogestrel(DB00304)|Drospirenone(DB01395)|Dydrogesterone(DB00378)|Ethynodiol Diacetate(DB00823)|Etonogestrel(DB00294)|Levonorgestrel(DB00367)|Medroxyprogesterone(DB00603)|Megestrol(DB00351)|Mifepristone(DB00834)|Norethindrone(DB00717)|Norgestimate(DB00957)|Norgestrel(DB00506)|Progesterone(DB00396) TTTAAATTTTCGACCTACAGA 0.358000 9 48 0 0 1 0 0 CYP4F8 11283 broad.mit.edu 37 19 15730487 15730487 + RNA SNP C C T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr19:15730487C>T ENST00000441682.2 + 0 503 P98187 CP4F8_HUMAN cytochrome P450, family 4, subfamily F, polypeptide 8 prostaglandin metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome alkane 1-monooxygenase activity|aromatase activity|electron carrier activity|heme binding|oxygen binding|protein binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|skin(1) 26 GTGGAGACACCACCGTCGCTT 0.502000 7 42 0 0 1 0 0 TNFAIP1 7126 broad.mit.edu 37 17 26666526 26666526 + Translation_Start_Site SNP G G A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr17:26666526G>A ENST00000226225.2 + 0 246 TNFAIP1_ENST00000544907.2_Intron|TNFAIP1_ENST00000583213.1_Intron NM_021137.4 NP_066960.1 Q13829 BACD2_HUMAN tumor necrosis factor, alpha-induced protein 1 (endothelial) apoptosis|cell migration|DNA replication|embryo development|immune response|negative regulation of Rho protein signal transduction|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination|stress fiber assembly Cul3-RING ubiquitin ligase complex|endosome|nucleus|voltage-gated potassium channel complex GTP-Rho binding|voltage-gated potassium channel activity endometrium(3)|kidney(1)|large_intestine(4)|lung(3)|prostate(1) 12 all_lung(13;0.000294)|Lung NSC(42;0.000964) UCEC - Uterine corpus endometrioid carcinoma (53;0.153) CCTGCCGTGTGGTGATCTACC 0.622000 4 13 0 0 1 0 0 KANSL1L 151050 broad.mit.edu 37 2 210940450 210940450 + Silent SNP G G A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr2:210940450G>A ENST00000281772.9 - 6 1844 c.1581C>T c.(1579-1581)tcC>tcT p.S527S KANSL1L_ENST00000452086.1_Silent_p.S527S|KANSL1L_ENST00000457374.1_Silent_p.S527S|KANSL1L_ENST00000418791.1_Silent_p.S527S NM_152519.2 NP_689732.2 A0AUZ9 CB067_HUMAN KAT8 regulatory NSL complex subunit 1-like 527 AGCTACTGGAGGAAGACAGCT 0.383000 7 41 0 0 1 0 0 SALL3 27164 broad.mit.edu 37 18 76754779 76754779 + Missense_Mutation SNP G G A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr18:76754779G>A ENST00000536229.3 + 1 3098 c.2389G>A c.(2389-2391)Gaa>Aaa p.E797K SALL3_ENST00000537592.2_Missense_Mutation_p.E930K|SALL3_ENST00000575389.2_Missense_Mutation_p.E930K Q9BXA9 SALL3_HUMAN spalt-like transcription factor 3 943 DDDMDE -> NDNLDK (in Ref. 2; CAB65124). regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(40)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 74 Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167) OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256) GGAGCCCCAGGAAATCCCGCT 0.746000 3 14 0 0 1 0 0 SACS 26278 broad.mit.edu 37 13 23915199 23915199 + Missense_Mutation SNP G G A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr13:23915199G>A ENST00000382298.3 - 10 3404 c.2816C>T c.(2815-2817)tCc>tTc p.S939F SACS_ENST00000382292.3_Missense_Mutation_p.S939F|SACS_ENST00000402364.1_Missense_Mutation_p.S189F NM_014363.4 NP_055178.3 Q9NZJ4 SACS_HUMAN spastic ataxia of Charlevoix-Saguenay (sacsin) 939 cell death|negative regulation of inclusion body assembly|protein folding axon|cell body fiber|dendrite|mitochondrion|nucleus ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11) 189 all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128) all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189) TGTATAAGAGGAAATTCCCTG 0.363000 19 88 0 0 1 0 0 DENND3 22898 broad.mit.edu 37 8 142178153 142178153 + Missense_Mutation SNP C C T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr8:142178153C>T ENST00000519811.1 + 13 1874 c.1804C>T c.(1804-1806)Cac>Tac p.H602Y DENND3_ENST00000424248.1_Missense_Mutation_p.H470Y|DENND3_ENST00000262585.2_Missense_Mutation_p.H522Y A2RUS2 DEND3_HUMAN DENN/MADD domain containing 3 522 breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(4)|stomach(2)|urinary_tract(1) 55 all_cancers(97;7.36e-15)|all_epithelial(106;2.33e-13)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.105) TCCCGAAATCCACTTTCCGCT 0.512000 38 165 0 0 1 0 0 XDH 7498 broad.mit.edu 37 2 31602786 31602786 + Silent SNP G G A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr2:31602786G>A ENST00000379416.3 - 13 1237 c.1189C>T c.(1189-1191)Ctg>Ttg p.L397L NM_000379.3 NP_000370.2 P47989 XDH_HUMAN xanthine dehydrogenase 397 FAD-binding PCMH-type. purine nucleotide catabolic process|xanthine catabolic process cytosol|extracellular region|peroxisome 2 iron, 2 sulfur cluster binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|molybdopterin cofactor binding|protein homodimerization activity|xanthine dehydrogenase activity|xanthine oxidase activity breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1) 74 Acute lymphoblastic leukemia(172;0.155) Allopurinol(DB00437)|Carvedilol(DB01136)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Desflurane(DB01189)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|NADH(DB00157)|Nitrofurazone(DB00336)|Papaverine(DB01113)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Rasburicase(DB00049)|Spermine(DB00127)|Trifluoperazine(DB00831)|Vitamin E(DB00163) GGGCTCAGCAGGGTCTTTCTG 0.527000 23 87 0 0 1 0 0 ZBTB21 49854 broad.mit.edu 37 21 43413584 43413584 + Silent SNP A A G TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr21:43413584A>G ENST00000310826.5 - 3 804 c.621T>C c.(619-621)agT>agC p.S207S ZBTB21_ENST00000398505.3_Silent_p.S207S|ZBTB21_ENST00000398511.3_Silent_p.S207S|ZBTB21_ENST00000398499.1_Silent_p.S207S|ZBTB21_ENST00000465968.1_Intron NM_001098402.1 NP_001091872.1 zinc finger and BTB domain containing 21 CTTTCGGCCAACTCTTTTCAG 0.413000 38 138 0 0 1 0 0 SVEP1 79987 broad.mit.edu 37 9 113148337 113148337 + Missense_Mutation SNP G G A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr9:113148337G>A ENST00000401783.2 - 43 10414 c.10078C>T c.(10078-10080)Cct>Tct p.P3360S SVEP1_ENST00000374469.1_Missense_Mutation_p.P3337S|SVEP1_ENST00000297826.5_Missense_Mutation_p.P1286S NM_153366.3 NP_699197.3 Q4LDE5 SVEP1_HUMAN sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1 3360 Sushi 33. cell adhesion cytoplasm|extracellular region|membrane calcium ion binding NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4) 147 ATCACAAAAGGAACAGGGCAT 0.403000 14 84 0 0 1 0 0 ARSH 347527 broad.mit.edu 37 X 2951169 2951169 + Missense_Mutation SNP G G A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chrX:2951169G>A ENST00000381130.2 + 9 1432 c.1432G>A c.(1432-1434)Gac>Aac p.D478N NM_001011719.1 NP_001011719.1 Q5FYA8 ARSH_HUMAN arylsulfatase family, member H 478 integral to membrane arylsulfatase activity|metal ion binding breast(3)|endometrium(8)|kidney(2)|large_intestine(6)|lung(13)|skin(1)|stomach(1) 34 all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186) AACCTACCACGACCCACCACT 0.473000 31 54 0 0 1 0 0 CDH19 28513 broad.mit.edu 37 18 64172194 64172194 + Missense_Mutation SNP C C T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr18:64172194C>T ENST00000262150.2 - 12 2466 c.2174G>A c.(2173-2175)gGa>gAa p.G725E NM_021153.2 NP_066976.1 Q9H159 CAD19_HUMAN cadherin 19, type 2 725 homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(22)|ovary(1)|prostate(3)|skin(7) 61 Esophageal squamous(42;0.0132) TGACCCTGTTCCCTCAAAAGC 0.453000 27 62 0 0 1 0 0 SLC6A12 6539 broad.mit.edu 37 12 304399 304399 + Nonsense_Mutation SNP C C T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr12:304399C>T ENST00000428720.1 - 13 2164 c.1421G>A c.(1420-1422)tGg>tAg p.W474* SLC6A12_ENST00000424061.2_Nonsense_Mutation_p.W474*|SLC6A12_ENST00000397296.2_Nonsense_Mutation_p.W474*|SLC6A12_ENST00000359674.4_Nonsense_Mutation_p.W474*|SLC6A12_ENST00000536824.1_Nonsense_Mutation_p.W474* NM_001122848.2 NP_001116320.1 P48065 S6A12_HUMAN solute carrier family 6 (neurotransmitter transporter), member 12 474 cellular nitrogen compound metabolic process|neurotransmitter secretion integral to plasma membrane gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(6)|lung(8)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1) 26 all_cancers(10;0.0172)|all_epithelial(11;0.0283)|all_lung(10;0.0392)|Lung NSC(10;0.0567)|Ovarian(42;0.142) OV - Ovarian serous cystadenocarcinoma(31;0.00227) ACCATACACCCAGCTTATGCA 0.567000 34 119 0 0 1 0 0 SLC5A2 6524 broad.mit.edu 37 16 31497517 31497517 + Silent SNP C C T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr16:31497517C>T ENST00000330498.3 + 5 514 c.495C>T c.(493-495)ttC>ttT p.F165F NM_003041.3 NP_003032.1 P31639 SC5A2_HUMAN solute carrier family 5 (sodium/glucose cotransporter), member 2 165 carbohydrate metabolic process integral to membrane low-affinity glucose:sodium symporter activity endometrium(2)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1) 25 GAGCTGTATTCATCCAGCAGG 0.607000 16 60 0 0 1 0 0 TSC2 7249 broad.mit.edu 37 16 2127662 2127662 + Silent SNP G G A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr16:2127662G>A ENST00000219476.3 + 26 3531 c.2901G>A c.(2899-2901)aaG>aaA p.K967K TSC2_ENST00000350773.4_Silent_p.K967K|TSC2_ENST00000382538.6_Intron|TSC2_ENST00000568454.1_Intron|TSC2_ENST00000401874.2_Intron|TSC2_ENST00000439673.2_Intron|TSC2_ENST00000568366.1_3'UTR|TSC2_ENST00000353929.4_Intron NM_000548.3 NP_000539.2 P49815 TSC2_HUMAN tuberous sclerosis 2 967 cell cycle arrest|endocytosis|heart development|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|negative regulation of cell size|negative regulation of phosphatidylinositol 3-kinase cascade|negative regulation of protein kinase B signaling cascade|negative regulation of TOR signaling cascade|negative regulation of Wnt receptor signaling pathway|nerve growth factor receptor signaling pathway|neural tube closure|phosphatidylinositol-mediated signaling|positive chemotaxis|protein import into nucleus|protein kinase B signaling cascade|regulation of endocytosis|regulation of insulin receptor signaling pathway|regulation of small GTPase mediated signal transduction Golgi apparatus|nucleus|perinuclear region of cytoplasm|TSC1-TSC2 complex GTPase activator activity|protein homodimerization activity NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(3)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|soft_tissue(1) 56 Hepatocellular(780;0.0202) AAGAATTCAAGGAGAGCTCTG 0.607000 """D, Mis, N, F, S""" """hamartoma, renal cell""" Tuberous Sclerosis 29 71 0 0 1 0 0 TNIP3 79931 broad.mit.edu 37 4 122085294 122085294 + Missense_Mutation SNP C C T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr4:122085294C>T ENST00000507879.1 - 4 256 c.197G>A c.(196-198)gGa>gAa p.G66E TNIP3_ENST00000057513.3_5'UTR|TNIP3_ENST00000454328.1_5'UTR|TNIP3_ENST00000509841.1_Missense_Mutation_p.G73E NM_001128843.2 NP_001122315.2 Q96KP6 TNIP3_HUMAN TNFAIP3 interacting protein 3 77 NS(1)|endometrium(4)|large_intestine(4)|lung(9)|ovary(1)|prostate(3)|skin(2) 24 AGCTGTTTTTCCTGGAGTCTT 0.388000 15 64 0 0 1 0 0 KCNK5 8645 broad.mit.edu 37 6 39159151 39159151 + Missense_Mutation SNP G G A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr6:39159151G>A ENST00000359534.3 - 5 1353 c.1015C>T c.(1015-1017)Cct>Tct p.P339S NM_003740.3 NP_003731.1 O95279 KCNK5_HUMAN potassium channel, subfamily K, member 5 339 excretion integral to plasma membrane potassium channel activity|voltage-gated ion channel activity central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(4)|skin(3) 19 ACCAGGGAAGGGGGCAGTGCT 0.652000 12 64 0 0 1 0 0 OR4A5 81318 broad.mit.edu 37 11 51411750 51411750 + Missense_Mutation SNP C C T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr11:51411750C>T ENST00000319760.6 - 1 698 c.646G>A c.(646-648)Gga>Aga p.G216R NM_001005272.3 NP_001005272.3 Q8NH83 OR4A5_HUMAN olfactory receptor, family 4, subfamily A, member 5 216 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(28)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 49 all_lung(304;0.236) AGGATGACTCCATAGGAGATT 0.448000 23 79 0 0 1 0 0 ZBTB45 84878 broad.mit.edu 37 19 59028743 59028743 + Silent SNP G G A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr19:59028743G>A ENST00000594051.1 - 2 778 c.298C>T c.(298-300)Ctg>Ttg p.L100L ZBTB45_ENST00000600990.1_Silent_p.L100L|ZBTB45_ENST00000354590.3_Silent_p.L100L Q96K62 ZBT45_HUMAN zinc finger and BTB domain containing 45 100 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|endometrium(3)|lung(5)|urinary_tract(1) 11 all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0165)|Lung(386;0.18) AGCACCTGCAGGGCTTCACCC 0.642000 OREG0025700 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 10 74 0 0 1 0 0 LAMA1 284217 broad.mit.edu 37 18 6956647 6956647 + Silent SNP G G A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr18:6956647G>A ENST00000389658.3 - 56 8175 c.8082C>T c.(8080-8082)ccC>ccT p.P2694P RP11-781P6.1_ENST00000584722.1_RNA NM_005559.3 NP_005550.2 P25391 LAMA1_HUMAN laminin, alpha 1 2694 axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development extracellular space|laminin-1 complex|laminin-3 complex extracellular matrix structural constituent|receptor binding NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3) 205 Colorectal(10;0.172) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) GAAAAGCCCGGGGCTCTGGCA 0.567000 14 58 0 0 1 0 0 ADAM18 8749 broad.mit.edu 37 8 39535042 39535042 + Missense_Mutation SNP C C T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr8:39535042C>T ENST00000265707.5 + 15 1663 c.1618C>T c.(1618-1620)Cct>Tct p.P540S ADAM18_ENST00000379866.1_Missense_Mutation_p.P516S|ADAM18_ENST00000541111.1_5'UTR NM_014237.2 NP_055052.1 Q9Y3Q7 ADA18_HUMAN ADAM metallopeptidase domain 18 540 Cys-rich. cell differentiation|multicellular organismal development|proteolysis|spermatogenesis integral to membrane|membrane fraction metalloendopeptidase activity|zinc ion binding NS(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(31)|ovary(1)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(3) 71 all_cancers(7;1.32e-05)|all_epithelial(6;3.08e-10)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00769)|Breast(189;0.0112) LUSC - Lung squamous cell carcinoma(45;0.000199) ACAACCATTACCTTGTGAACG 0.308000 22 25 0 0 1 0 0 IL1RAPL2 26280 broad.mit.edu 37 X 105011435 105011435 + Silent SNP C C T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chrX:105011435C>T ENST00000372582.1 + 11 2598 c.1842C>T c.(1840-1842)atC>atT p.I614I IL1RAPL2_ENST00000538500.1_Silent_p.I219I|IL1RAPL2_ENST00000344799.4_Silent_p.I614I NM_017416.1 NP_059112.1 Q9NP60 IRPL2_HUMAN interleukin 1 receptor accessory protein-like 2 614 central nervous system development|innate immune response integral to membrane interleukin-1, Type II, blocking receptor activity breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(14)|lung(23)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 49 CAATGCAAATCAGGCACTGTT 0.488000 24 79 0 0 1 0 0 PNLDC1 154197 broad.mit.edu 37 6 160240298 160240298 + Silent SNP C C T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr6:160240298C>T ENST00000275275.5 + 18 1584 c.1413C>T c.(1411-1413)atC>atT p.I471I PNLDC1_ENST00000392167.3_Silent_p.I482I NM_001271862.1|NM_173516.1 NP_001258791.1|NP_775787.1 Q8NA58 PNDC1_HUMAN poly(A)-specific ribonuclease (PARN)-like domain containing 1 471 integral to membrane|nucleus nucleic acid binding autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(9)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1) 31 Breast(66;0.00519)|Ovarian(120;0.123) OV - Ovarian serous cystadenocarcinoma(65;1.55e-18)|BRCA - Breast invasive adenocarcinoma(81;5.87e-06) CGCGGAACATCCTGAAGGAGT 0.602000 12 47 0 0 1 0 0 KMT2D 8085 broad.mit.edu 37 12 49418438 49418438 + Silent SNP G G A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr12:49418438G>A ENST00000301067.7 - 50 15974 c.15975C>T c.(15973-15975)ccC>ccT p.P5325P NM_003482.3 NP_003473.3 lysine (K)-specific methyltransferase 2D GCTCCATAAGGGGGTGGCGCC 0.532000 10 17 0 0 1 0 0 ADAM7 8756 broad.mit.edu 37 8 24365022 24365022 + Silent SNP C C T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr8:24365022C>T ENST00000175238.6 + 21 2321 c.2238C>T c.(2236-2238)atC>atT p.I746I ADAM7_ENST00000520720.1_Intron|RP11-624C23.1_ENST00000523578.1_RNA|RP11-624C23.1_ENST00000519689.1_RNA|RP11-561E1.1_ENST00000519364.1_RNA|ADAM7_ENST00000380789.1_Silent_p.I768I NM_003817.3 NP_003808.2 Q9H2U9 ADAM7_HUMAN ADAM metallopeptidase domain 7 746 proteolysis integral to membrane metalloendopeptidase activity|zinc ion binding p.I746I(1) NS(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(24)|ovary(1)|skin(15) 64 Prostate(55;0.0181) Colorectal(74;0.0199)|COAD - Colon adenocarcinoma(73;0.0754)|BRCA - Breast invasive adenocarcinoma(99;0.182) CAAGAGGAATCGCAGATCCCA 0.388000 17 106 0 0 1 0 0 CAMKK2 10645 broad.mit.edu 37 12 121712076 121712076 + Missense_Mutation SNP G G A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr12:121712076G>A ENST00000324774.5 - 2 1082 c.254C>T c.(253-255)aCc>aTc p.T85I CAMKK2_ENST00000337174.3_Missense_Mutation_p.T85I|CAMKK2_ENST00000538733.1_Missense_Mutation_p.T85I|CAMKK2_ENST00000392473.2_Missense_Mutation_p.T85I|CAMKK2_ENST00000404169.3_Missense_Mutation_p.T85I|CAMKK2_ENST00000535524.1_5'UTR|CAMKK2_ENST00000412367.2_Missense_Mutation_p.T85I|CAMKK2_ENST00000402834.4_Missense_Mutation_p.T85I|CAMKK2_ENST00000446440.2_Missense_Mutation_p.T85I|CAMKK2_ENST00000347034.2_Missense_Mutation_p.T85I|CAMKK2_ENST00000392474.2_Missense_Mutation_p.T85I NM_006549.3 NP_006540.3 Q96RR4 KKCC2_HUMAN calcium/calmodulin-dependent protein kinase kinase 2, beta 85 T -> S (in dbSNP:rs3817190). calcium-mediated signaling|MAPKKK cascade|positive regulation of transcription, DNA-dependent|protein autophosphorylation|regulation of protein kinase activity cytoplasm ATP binding|calcium ion binding|calmodulin binding|calmodulin-dependent protein kinase activity|protein tyrosine kinase activity endometrium(2)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 17 all_neural(191;0.0684)|Medulloblastoma(191;0.0922) GGACCCGGAGGTGTCAAGGGG 0.692000 10 23 0 0 1 0 0 GTF3C1 2975 broad.mit.edu 37 16 27506677 27506677 + Silent SNP C C T rs148107220 TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr16:27506677C>T ENST00000356183.4 - 15 2502 c.2487G>A c.(2485-2487)cgG>cgA p.R829R GTF3C1_ENST00000561623.1_Silent_p.R829R NM_001520.3 NP_001511.2 Q12789 TF3C1_HUMAN general transcription factor IIIC, polypeptide 1, alpha 220kDa 829 transcription factor TFIIIC complex DNA binding|protein binding breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2) 80 TTATCGTTCTCCGTTCACTGA 0.597000 8 36 0 0 1 0 0 UNC79 57578 broad.mit.edu 37 14 93943986 93943986 + Translation_Start_Site SNP G G A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr14:93943986G>A ENST00000256339.4 + 0 655 UNC79_ENST00000393151.2_Silent_p.T177T|UNC79_ENST00000555664.1_Silent_p.T177T|UNC79_ENST00000553484.1_Silent_p.T177T NM_020818.3 NP_065869.3 Q9P2D8 UNC79_HUMAN unc-79 homolog (C. elegans) integral to membrane breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4) 118 TGCCCTACACGATGATATCAA 0.358000 14 74 0 0 1 0 0 DMXL2 23312 broad.mit.edu 37 15 51839578 51839578 + Missense_Mutation SNP G G A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr15:51839578G>A ENST00000251076.5 - 7 882 c.595C>T c.(595-597)Cct>Tct p.P199S DMXL2_ENST00000560421.1_5'UTR|DMXL2_ENST00000543779.2_Missense_Mutation_p.P199S|DMXL2_ENST00000449909.3_Missense_Mutation_p.P199S NM_001174116.1|NM_015263.3 NP_001167587.1|NP_056078.2 Q8TDJ6 DMXL2_HUMAN Dmx-like 2 199 cell junction|synaptic vesicle membrane Rab GTPase binding breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 101 all cancers(107;0.00494) CCAGTCATAGGATACCACACT 0.323000 9 52 0 0 1 0 0 MYH2 4620 broad.mit.edu 37 17 10443321 10443321 + Silent SNP C C T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr17:10443321C>T ENST00000245503.5 - 12 1455 c.1071G>A c.(1069-1071)ggG>ggA p.G357G MYH2_ENST00000397183.2_Silent_p.G357G|MYH2_ENST00000532183.1_Silent_p.G357G|CTC-297N7.7_ENST00000587182.1_RNA NM_017534.5 NP_060004.3 Q9UKX2 MYH2_HUMAN myosin, heavy chain 2, skeletal muscle, adult 357 Myosin head-like. muscle filament sliding muscle myosin complex|myosin filament|sarcomere actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4) 176 GCATCACAGCCCCCGTGAGCT 0.423000 53 174 0 0 1 0 0 OR10A5 144124 broad.mit.edu 37 11 6867026 6867026 + Missense_Mutation SNP T T C TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr11:6867026T>C ENST00000299454.4 + 1 144 c.113T>C c.(112-114)gTt>gCt p.V38A OR10A5_ENST00000379831.2_Missense_Mutation_p.V42A Q9H207 O10A5_HUMAN olfactory receptor, family 10, subfamily A, member 5 38 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(1)|skin(2)|urinary_tract(2) 21 Medulloblastoma(188;0.0523)|all_neural(188;0.236) Epithelial(150;4.68e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129) ATCTATTTGGTTACTCTGAAG 0.423000 80 226 0 0 1 0 0 PFAS 5198 broad.mit.edu 37 17 8168223 8168223 + Missense_Mutation SNP C C T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr17:8168223C>T ENST00000314666.6 + 18 2193 c.2060C>T c.(2059-2061)tCt>tTt p.S687F PFAS_ENST00000545834.1_Missense_Mutation_p.S263F NM_012393.2 NP_036525.1 O15067 PUR4_HUMAN phosphoribosylformylglycinamidine synthase 687 'de novo' IMP biosynthetic process|glutamine metabolic process|purine base metabolic process cytosol ATP binding|phosphoribosylformylglycinamidine synthase activity|protein binding central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3) 35 L-Glutamic Acid(DB00142)|L-Glutamine(DB00130) GTGGACCGCTCTGTGGGAGGC 0.642000 3 12 0 0 1 0 0 UGT2B11 10720 broad.mit.edu 37 4 70079978 70079978 + Missense_Mutation SNP G G A rs142415589 byFrequency TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr4:70079978G>A ENST00000446444.1 - 1 471 c.463C>T c.(463-465)Ccc>Tcc p.P155S RP11-704M14.1_ENST00000504301.1_RNA|RP11-704M14.1_ENST00000505646.1_RNA NM_001073.1 NP_001064.1 O75310 UDB11_HUMAN UDP glucuronosyltransferase 2 family, polypeptide B11 155 estrogen metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome glucuronosyltransferase activity endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 42 TCACCACAGGGAAAAACAGCA 0.398000 25 106 0 0 1 0 0 UNC45B 146862 broad.mit.edu 37 17 33501375 33501375 + Missense_Mutation SNP G G A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr17:33501375G>A ENST00000268876.5 + 14 2048 c.1951G>A c.(1951-1953)Gag>Aag p.E651K UNC45B_ENST00000591048.1_Missense_Mutation_p.E570K|UNC45B_ENST00000433649.1_Missense_Mutation_p.E649K|UNC45B_ENST00000394570.2_Missense_Mutation_p.E649K|UNC45B_ENST00000378449.1_Missense_Mutation_p.E570K NM_173167.2 NP_775259.1 Q8IWX7 UN45B_HUMAN unc-45 homolog B (C. elegans) 651 cell differentiation|muscle organ development cytosol binding breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(10)|lung(24)|ovary(3)|prostate(2)|skin(1)|stomach(1)|urinary_tract(3) 59 Ovarian(249;0.17) CCAGACCAAGGAGCTGCTGGC 0.602000 17 51 0 0 1 0 0 PROKR2 128674 broad.mit.edu 37 20 5294605 5294605 + Silent SNP G G A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr20:5294605G>A ENST00000546004.1 - 2 657 c.411C>T c.(409-411)gtC>gtT p.V137V PROKR2_ENST00000217270.3_Silent_p.V137V Q8NFJ6 PKR2_HUMAN prokineticin receptor 2 137 integral to membrane|plasma membrane neuropeptide Y receptor activity autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(3)|lung(22)|ovary(5)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4) 53 CGTAGAGGGAGACGGTGCGCA 0.612000 HNSCC(71;0.22) 10 35 0 0 1 0 0 IRAK2 3656 broad.mit.edu 37 3 10280489 10280489 + Missense_Mutation SNP C C T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr3:10280489C>T ENST00000256458.4 + 12 1621 c.1531C>T c.(1531-1533)Cct>Tct p.P511S NM_001570.3 NP_001561.3 O43187 IRAK2_HUMAN interleukin-1 receptor-associated kinase 2 511 activation of MAPK activity|I-kappaB kinase/NF-kappaB cascade|inflammatory response|innate immune response|interleukin-1-mediated signaling pathway|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of NF-kappaB transcription factor activity|positive regulation of NF-kappaB transcription factor activity|regulation of cytokine-mediated signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cell surface|cytosol|endosome membrane|plasma membrane ATP binding|NF-kappaB-inducing kinase activity|protein heterodimerization activity|protein homodimerization activity breast(4)|large_intestine(8)|lung(11)|prostate(1)|stomach(1) 25 GACGTTGCTCCCTTGGAGTGG 0.562000 33 115 0 0 1 0 0 NDRG3 57446 broad.mit.edu 37 20 35299773 35299773 + Missense_Mutation SNP C C G TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr20:35299773C>G ENST00000373803.2 - 9 615 c.559G>C c.(559-561)Gac>Cac p.D187H NDRG3_ENST00000540765.1_Missense_Mutation_p.D83H|NDRG3_ENST00000373773.3_Missense_Mutation_p.D92H|NDRG3_ENST00000359675.2_Missense_Mutation_p.D175H|NDRG3_ENST00000349004.1_Missense_Mutation_p.D187H Q9UGV2 NDRG3_HUMAN NDRG family member 3 187 cell differentiation|negative regulation of cell growth|spermatogenesis cytoplasm endometrium(4)|large_intestine(2)|lung(4)|ovary(1)|prostate(1) 12 Myeloproliferative disorder(115;0.00878) AAAATAATGTCCACAACATTG 0.378000 17 63 0 0 1 0 0 GYS2 2998 broad.mit.edu 37 12 21713332 21713332 + Missense_Mutation SNP C C T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr12:21713332C>T ENST00000261195.2 - 8 1411 c.1157G>A c.(1156-1158)cGa>cAa p.R386Q NM_021957.3 NP_068776.2 P54840 GYS2_HUMAN glycogen synthase 2 (liver) 386 glucose metabolic process|glycogen biosynthetic process|response to glucose stimulus cortical actin cytoskeleton|cytosol|ectoplasm|insoluble fraction|soluble fraction glycogen (starch) synthase activity|protein homodimerization activity p.R386Q(1) NS(1)|breast(2)|endometrium(5)|kidney(1)|large_intestine(14)|lung(14)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 48 CAGCTGTTTTCGCACTGCTTG 0.383000 33 106 0 0 1 0 0 BCAP31 10134 broad.mit.edu 37 X 152981046 152981046 + Missense_Mutation SNP G G A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chrX:152981046G>A ENST00000458587.2 - 4 922 c.493C>T c.(493-495)Cgt>Tgt p.R165C BCAP31_ENST00000477175.1_5'UTR|BCAP31_ENST00000441714.1_Missense_Mutation_p.R98C|BCAP31_ENST00000345046.6_Missense_Mutation_p.R98C NM_001139441.1|NM_001139457.2 NP_001132913.1|NP_001132929.1 P51572 BAP31_HUMAN B-cell receptor-associated protein 31 98 Cleavage; by caspase-8 (Potential). cellular component disassembly involved in apoptosis|immune response|intracellular protein transport|vesicle-mediated transport cytosol|endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|integral to plasma membrane receptor binding endometrium(2)|large_intestine(2)|lung(2)|prostate(1) 7 all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05) CTCTGGGCACGGAAAAGCTTC 0.547000 43 72 0 0 1 0 0 MSH5-SAPCD1 100532732 broad.mit.edu 37 6 31726370 31726370 + Missense_Mutation SNP C C T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr6:31726370C>T ENST00000493662.2 + 14 1296 c.1240C>T c.(1240-1242)Ccc>Tcc p.P414S MSH5_ENST00000375755.3_Missense_Mutation_p.P397S|MSH5_ENST00000534153.4_Missense_Mutation_p.P414S|MSH5_ENST00000375703.3_Missense_Mutation_p.P397S|MSH5_ENST00000395853.1_Missense_Mutation_p.P71S|MSH5_ENST00000375750.3_Missense_Mutation_p.P397S|MSH5_ENST00000375742.3_Missense_Mutation_p.P414S|MSH5_ENST00000431848.2_Missense_Mutation_p.P96S|MSH5_ENST00000375740.3_Missense_Mutation_p.P414S CACAGTCCTCCCCAACATAGA 0.532000 10 50 0 0 1 0 0 FAT3 120114 broad.mit.edu 37 11 92534542 92534542 + Missense_Mutation SNP C C T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr11:92534542C>T ENST00000298047.6 + 9 8380 c.8363C>T c.(8362-8364)cCc>cTc p.P2788L FAT3_ENST00000409404.2_Missense_Mutation_p.P2788L|FAT3_ENST00000525166.1_Missense_Mutation_p.P2638L Q8TDW7 FAT3_HUMAN FAT atypical cadherin 3 2788 Cadherin 25. homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5) 85 Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858) GCCACTATACCCCTGGACAAA 0.418000 TCGA Ovarian(4;0.039) 10 43 0 0 1 0 0 CSMD1 64478 broad.mit.edu 37 8 2813131 2813131 + Missense_Mutation SNP C C T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr8:2813131C>T ENST00000602557.1 - 65 10532 c.9977G>A c.(9976-9978)gGa>gAa p.G3326E CSMD1_ENST00000537824.1_Missense_Mutation_p.G3325E|CSMD1_ENST00000400186.3_Missense_Mutation_p.G3149E|CSMD1_ENST00000542608.1_Missense_Mutation_p.G3148E|CSMD1_ENST00000602723.1_Missense_Mutation_p.G3149E|CSMD1_ENST00000520002.1_Missense_Mutation_p.G3326E Q96PZ7 CSMD1_HUMAN CUB and Sushi multiple domains 1 3326 Sushi 28. integral to membrane breast(20)|large_intestine(5) 25 all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234) all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689) AGGCGACTTTCCTGTCCATTT 0.488000 16 57 0 0 1 0 0 LGALS9B 284194 broad.mit.edu 37 17 20354887 20354887 + Silent SNP A A C TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr17:20354887A>C ENST00000423676.3 - 10 894 c.831T>G c.(829-831)gcT>gcG p.A277A LGALS9B_ENST00000324290.5_Silent_p.A276A Q3B8N2 LEG9B_HUMAN lectin, galactoside-binding, soluble, 9B 277 Galectin 2. sugar binding central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(3)|skin(1)|upper_aerodigestive_tract(2) 10 TACGGACCACAGCATTCTCAT 0.572000 13 49 0 0 1 0 0 THBS1 7057 broad.mit.edu 37 15 39879565 39879565 + Missense_Mutation SNP G G A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr15:39879565G>A ENST00000260356.5 + 8 1303 c.1138G>A c.(1138-1140)Gat>Aat p.D380N NM_003246.2 NP_003237.2 P07996 TSP1_HUMAN thrombospondin 1 380 TSP type-1 1. activation of MAPK activity|anti-apoptosis|apoptosis|cell adhesion|cell cycle arrest|cell migration|cellular response to heat|chronic inflammatory response|engulfment of apoptotic cell|immune response|induction of apoptosis|negative regulation of angiogenesis|negative regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|negative regulation of blood vessel endothelial cell migration|negative regulation of caspase activity|negative regulation of cGMP-mediated signaling|negative regulation of dendritic cell antigen processing and presentation|negative regulation of endothelial cell proliferation|negative regulation of fibrinolysis|negative regulation of fibroblast growth factor receptor signaling pathway|negative regulation of focal adhesion assembly|negative regulation of interleukin-12 production|negative regulation of nitric oxide mediated signal transduction|negative regulation of plasma membrane long-chain fatty acid transport|negative regulation of plasminogen activation|peptide cross-linking|platelet activation|platelet degranulation|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of fibroblast migration|positive regulation of macrophage activation|positive regulation of macrophage chemotaxis|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transforming growth factor-beta1 production|positive regulation of translation|positive regulation of tumor necrosis factor biosynthetic process|response to calcium ion|response to drug|response to glucose stimulus|response to hypoxia|response to magnesium ion|response to progesterone stimulus|sprouting angiogenesis external side of plasma membrane|extracellular matrix|fibrinogen complex|platelet alpha granule lumen calcium ion binding|collagen V binding|eukaryotic cell surface binding|fibrinogen binding|fibroblast growth factor 2 binding|fibronectin binding|heparin binding|identical protein binding|integrin binding|laminin binding|low-density lipoprotein particle binding|phosphatidylserine binding|proteoglycan binding|structural molecule activity|transforming growth factor beta binding breast(1)|central_nervous_system(3)|endometrium(8)|kidney(5)|large_intestine(15)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 53 all_cancers(109;1.35e-17)|all_epithelial(112;2.07e-15)|Lung NSC(122;4.44e-11)|all_lung(180;1.11e-09)|Melanoma(134;0.0574)|Colorectal(260;0.117)|Ovarian(310;0.223) GBM - Glioblastoma multiforme(113;2.77e-06)|BRCA - Breast invasive adenocarcinoma(123;0.105) Becaplermin(DB00102) CTCTGCGGACGATGGCTGGTC 0.572000 16 35 0 0 1 0 0 CTD-2066L21.3 0 broad.mit.edu 37 5 33162658 33162658 + RNA SNP G G A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr5:33162658G>A ENST00000510327.1 - 0 346 TGGGCCGCAAGAAGGGAGCCA 0.458000 9 18 0 0 1 0 0 DYSF 8291 broad.mit.edu 37 2 71827915 71827915 + Silent SNP G G A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr2:71827915G>A ENST00000258104.3 + 34 4063 c.3786G>A c.(3784-3786)agG>agA p.R1262R DYSF_ENST00000394120.2_Silent_p.R1263R|DYSF_ENST00000409366.1_Silent_p.R1263R|DYSF_ENST00000409762.1_Silent_p.R1279R|DYSF_ENST00000409651.1_Silent_p.R1294R|DYSF_ENST00000410041.1_Silent_p.R1280R|DYSF_ENST00000413539.2_Silent_p.R1293R|DYSF_ENST00000409582.3_Silent_p.R1279R|DYSF_ENST00000479049.2_3'UTR|DYSF_ENST00000409744.1_Silent_p.R1249R|DYSF_ENST00000410020.3_Silent_p.R1280R|DYSF_ENST00000429174.2_Silent_p.R1262R NM_001130976.1|NM_003494.3 NP_001124448.1|NP_003485.1 O75923 DYSF_HUMAN dysferlin 1262 cytoplasmic vesicle membrane|integral to membrane|sarcolemma calcium-dependent phospholipid binding autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2) 111 CACTGACGAGGGGCAGCCAGC 0.607000 34 107 0 0 1 0 0 GNAS 2778 broad.mit.edu 37 20 57415683 57415683 + Silent SNP C C T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr20:57415683C>T ENST00000313949.7 + 1 911 c.522C>T c.(520-522)tcC>tcT p.S174S GNAS_ENST00000371075.3_Silent_p.S174S|GNAS-AS1_ENST00000443966.1_RNA|GNAS_ENST00000371098.2_Silent_p.S174S|GNAS-AS1_ENST00000598163.1_RNA|GNAS-AS1_ENST00000424094.2_RNA P63092 GNAS2_HUMAN GNAS complex locus 0 activation of adenylate cyclase activity|cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|intracellular transport|platelet activation|regulation of insulin secretion|sensory perception of smell|transmembrane transport|water transport heterotrimeric G-protein complex|intrinsic to membrane|trans-Golgi network membrane adenylate cyclase activity|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|identical protein binding|signal transducer activity adrenal_gland(12)|autonomic_ganglia(1)|biliary_tract(5)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(37)|liver(9)|lung(9)|ovary(16)|pancreas(56)|parathyroid(5)|pituitary(228)|prostate(2)|small_intestine(1)|stomach(1)|testis(2)|thyroid(35)|upper_aerodigestive_tract(3)|urinary_tract(1) 441 all_lung(29;0.0104) BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109) CCGACGCCTCCCCAAGTCGCG 0.672000 Mis pituitary adenoma """McCune-Albright syndrome; pseudohypoparathyroidism, type IA""" TSP Lung(22;0.16) 6 21 0 0 1 0 0 SMARCA4 6597 broad.mit.edu 37 19 11101966 11101966 + Silent SNP C C T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr19:11101966C>T ENST00000358026.2 + 8 1670 c.1386C>T c.(1384-1386)atC>atT p.I462I SMARCA4_ENST00000413806.3_Silent_p.I462I|SMARCA4_ENST00000344626.4_Silent_p.I462I|SMARCA4_ENST00000590574.1_Silent_p.I462I|SMARCA4_ENST00000589677.1_Silent_p.I462I|SMARCA4_ENST00000429416.3_Silent_p.I462I|SMARCA4_ENST00000444061.3_Silent_p.I462I|SMARCA4_ENST00000450717.3_Silent_p.I462I|SMARCA4_ENST00000541122.2_Silent_p.I462I NM_001128849.1 NP_001122321.1 P51532 SMCA4_HUMAN SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 462 HSA. chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity p.?(1) adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 163 all_lung(6;0.0512)|Lung NSC(9;0.0568) AGCAGAAGATCGAGCAGGAGC 0.667000 """F, N, Mis""" NSCLC 3 13 0 0 1 0 0 ANK2 287 broad.mit.edu 37 4 114117542 114117542 + Missense_Mutation SNP C C T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr4:114117542C>T ENST00000357077.4 + 3 258 c.205C>T c.(205-207)Cat>Tat p.H69Y ANK2_ENST00000264366.6_Missense_Mutation_p.H69Y|ANK2_ENST00000394537.3_Missense_Mutation_p.H69Y|ANK2_ENST00000506722.1_Missense_Mutation_p.H48Y NM_001148.4 NP_001139.3 Q01484 ANK2_HUMAN ankyrin 2, neuronal 69 axon guidance|signal transduction apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere protein binding NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10) 248 Ovarian(17;0.0448)|Hepatocellular(203;0.218) OV - Ovarian serous cystadenocarcinoma(123;4.92e-05) CAACGCTCTCCATCTGGCTGC 0.483000 8 30 0 0 1 0 0 SBDS 51119 broad.mit.edu 37 7 66458322 66458322 + Missense_Mutation SNP A A T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr7:66458322A>T ENST00000246868.2 - 3 524 c.341T>A c.(340-342)aTt>aAt p.I114N NM_016038.2 NP_057122.2 Q9Y3A5 SBDS_HUMAN Shwachman-Bodian-Diamond syndrome 114 I -> F (in Ref. 2; AAD34092). bone marrow development|bone mineralization|leukocyte chemotaxis|mature ribosome assembly|mitotic spindle stabilization|positive regulation of translation|ribosomal large subunit biogenesis|rRNA processing cytoplasm|nucleolus|nucleoplasm|spindle pole microtubule binding|ribosome binding|rRNA binding cervix(1)|endometrium(1)|lung(3)|ovary(1)|upper_aerodigestive_tract(1) 7 GTCTGCCACAATAGTTGCAAT 0.398000 Gene Conversion """AML, MDS""" Shwachman-Diamond syndrome 43 145 0 0 1 0 0 YIPF7 285525 broad.mit.edu 37 4 44624460 44624460 + Missense_Mutation SNP C C T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr4:44624460C>T ENST00000332990.5 - 6 830 c.814G>A c.(814-816)Gga>Aga p.G272R NM_182592.2 NP_872398.2 Q8N8F6 YIPF7_HUMAN Yip1 domain family, member 7 272 endoplasmic reticulum membrane|integral to membrane breast(1)|large_intestine(1)|lung(9)|upper_aerodigestive_tract(1) 12 GCAAAAAGTCCATAAAGTATG 0.403000 5 40 0 0 1 0 0 FRAS1 80144 broad.mit.edu 37 4 79366792 79366792 + Missense_Mutation SNP C C T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr4:79366792C>T ENST00000264895.6 + 42 6222 c.5782C>T c.(5782-5784)Cat>Tat p.H1928Y FRAS1_ENST00000325942.6_Missense_Mutation_p.H1928Y NM_025074.6 NP_079350.5 Q86XX4 FRAS1_HUMAN Fraser syndrome 1 1927 cell communication integral to membrane|plasma membrane metal ion binding breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4) 103 TGAGCCAACCCATGATATTTT 0.388000 41 188 0 0 1 0 0 GRIN2A 2903 broad.mit.edu 37 16 10274089 10274089 + Silent SNP C C T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr16:10274089C>T ENST00000396573.2 - 3 489 c.180G>A c.(178-180)gcG>gcA p.A60A GRIN2A_ENST00000396575.2_Silent_p.A60A|GRIN2A_ENST00000562109.1_Silent_p.A60A|GRIN2A_ENST00000330684.3_Silent_p.A60A|GRIN2A_ENST00000404927.2_Silent_p.A60A NM_000833.3 NP_000824.1 Q12879 NMDE1_HUMAN glutamate receptor, ionotropic, N-methyl D-aspartate 2A 60 response to ethanol cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1) 198 Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043) GCAGCCCCGCCGCCTGCTCGG 0.652000 22 74 0 0 1 0 0 LRRC30 339291 broad.mit.edu 37 18 7231617 7231617 + Missense_Mutation SNP G G A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr18:7231617G>A ENST00000383467.2 + 1 495 c.481G>A c.(481-483)Gac>Aac p.D161N NM_001105581.1 NP_001099051.1 A6NM36 LRC30_HUMAN leucine rich repeat containing 30 161 p.D161N(1) central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(13)|ovary(1)|prostate(1)|skin(3) 31 ATGCTTCGCCGACCTCTCTAG 0.572000 14 77 0 0 1 0 0 DSCAML1 57453 broad.mit.edu 37 11 117303079 117303079 + Missense_Mutation SNP C C T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr11:117303079C>T ENST00000321322.6 - 30 5349 c.5348G>A c.(5347-5349)cGg>cAg p.R1783Q DSCAML1_ENST00000527706.1_Missense_Mutation_p.R1513Q NM_020693.2 NP_065744.2 Q8TD84 DSCL1_HUMAN Down syndrome cell adhesion molecule like 1 1723 axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion cell surface|integral to membrane|plasma membrane protein homodimerization activity breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 110 all_hematologic(175;0.0487) Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232) BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172) GGTTCCTGGCCGGATGTCAGA 0.552000 8 39 0 0 1 0 0 MGAM 8972 broad.mit.edu 37 7 141796173 141796173 + Silent SNP C C T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr7:141796173C>T ENST00000475668.2 + 65 7704 c.7650C>T c.(7648-7650)ttC>ttT p.F2550F MGAM_ENST00000549489.2_Silent_p.F1654F O43451 MGA_HUMAN maltase-glucoamylase (alpha-glucosidase) 1654 polysaccharide digestion|starch catabolic process apical plasma membrane|integral to membrane carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2) 13 Melanoma(164;0.0272) Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878) ACAGTCAGTTCCTGCTGGGCC 0.592000 11 58 0 0 1 0 0 ATP2B4 493 broad.mit.edu 37 1 203708954 203708954 + Missense_Mutation SNP C C T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr1:203708954C>T ENST00000357681.5 + 21 4713 c.3590C>T c.(3589-3591)tCt>tTt p.S1197F ATP2B4_ENST00000367218.3_3'UTR|ATP2B4_ENST00000367219.3_3'UTR|ATP2B4_ENST00000341360.2_3'UTR|ATP2B4_ENST00000391954.2_3'UTR NM_001684.4 NP_001675.3 P23634 AT2B4_HUMAN ATPase, Ca++ transporting, plasma membrane 4 1233 ATP biosynthetic process|platelet activation integral to plasma membrane ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(20)|ovary(2)|prostate(6)|skin(1)|stomach(1)|urinary_tract(3) 56 all_cancers(21;0.071)|all_epithelial(62;0.228) BRCA - Breast invasive adenocarcinoma(75;0.109) TCGGACAGCTCTCTACAGAGC 0.458000 37 26 0 0 1 0 0 SMARCA4 6597 broad.mit.edu 37 19 11134267 11134267 + Missense_Mutation SNP G G A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr19:11134267G>A ENST00000358026.2 + 20 3217 c.2933G>A c.(2932-2934)cGa>cAa p.R978Q SMARCA4_ENST00000413806.3_Missense_Mutation_p.R978Q|SMARCA4_ENST00000344626.4_Missense_Mutation_p.R978Q|SMARCA4_ENST00000590574.1_Missense_Mutation_p.R978Q|SMARCA4_ENST00000589677.1_Missense_Mutation_p.R978Q|SMARCA4_ENST00000429416.3_Missense_Mutation_p.R978Q|SMARCA4_ENST00000444061.3_Missense_Mutation_p.R978Q|SMARCA4_ENST00000450717.3_Missense_Mutation_p.R978Q|SMARCA4_ENST00000541122.2_Missense_Mutation_p.R978Q NM_001128849.1 NP_001122321.1 P51532 SMCA4_HUMAN SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 978 chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity p.?(1) adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 163 all_lung(6;0.0512)|Lung NSC(9;0.0568) TTCTTGCTCCGACGACTCAAG 0.577000 """F, N, Mis""" NSCLC 13 20 0 0 1 0 0 CCDC88C 440193 broad.mit.edu 37 14 91760643 91760643 + Missense_Mutation SNP C C T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr14:91760643C>T ENST00000389857.6 - 23 4072 c.3986G>A c.(3985-3987)gGg>gAg p.G1329E NM_001080414.3 NP_001073883.2 Q9P219 DAPLE_HUMAN coiled-coil domain containing 88C 1329 microtubule cytoskeleton organization|protein destabilization|protein homooligomerization|regulation of protein phosphorylation|Wnt receptor signaling pathway cytoplasm|insoluble fraction microtubule binding|PDZ domain binding|protein self-association central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(6)|pancreas(1)|urinary_tract(1) 24 all_cancers(154;0.0468) CTCCAAGTTCCCCTTGAGACG 0.537000 15 47 0 0 1 0 0 TG 7038 broad.mit.edu 37 8 133935613 133935613 + Missense_Mutation SNP G G A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr8:133935613G>A ENST00000220616.4 + 22 4599 c.4559G>A c.(4558-4560)gGc>gAc p.G1520D TG_ENST00000542445.1_5'UTR|TG_ENST00000377869.1_Intron NM_003235.4 NP_003226.4 P01266 THYG_HUMAN thyroglobulin 1520 Thyroglobulin type-1 11. hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation extracellular space hormone activity NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8) 168 Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155) Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735) BRCA - Breast invasive adenocarcinoma(115;0.000701) KIRC - Kidney renal clear cell carcinoma(542;0.0546) AACGAAGCAGGCCTGCAATGT 0.577000 9 51 0 0 1 0 0 ADAM18 8749 broad.mit.edu 37 8 39581320 39581320 + Silent SNP C C T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr8:39581320C>T ENST00000265707.5 + 19 2116 c.2071C>T c.(2071-2073)Ctg>Ttg p.L691L ADAM18_ENST00000379866.1_Silent_p.L667L|ADAM18_ENST00000541111.1_Silent_p.L105L|ADAM18_ENST00000523755.1_3'UTR NM_014237.2 NP_055052.1 Q9Y3Q7 ADA18_HUMAN ADAM metallopeptidase domain 18 691 cell differentiation|multicellular organismal development|proteolysis|spermatogenesis integral to membrane|membrane fraction metalloendopeptidase activity|zinc ion binding NS(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(31)|ovary(1)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(3) 71 all_cancers(7;1.32e-05)|all_epithelial(6;3.08e-10)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00769)|Breast(189;0.0112) LUSC - Lung squamous cell carcinoma(45;0.000199) CTGGTTTATTCTGAGTTTCTG 0.328000 22 72 0 0 1 0 0 ANKRD30B 374860 broad.mit.edu 37 18 14763957 14763957 + Missense_Mutation SNP G G A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr18:14763957G>A ENST00000358984.4 + 7 1273 c.1093G>A c.(1093-1095)Gaa>Aaa p.E365K ANKRD30B_ENST00000447268.2_Missense_Mutation_p.E365K|ANKRD30B_ENST00000579292.1_Intron NM_001145029.1 NP_001138501.1 Q9BXX2 AN30B_HUMAN ankyrin repeat domain 30B 365 breast(3)|endometrium(4)|kidney(3)|lung(8)|ovary(1)|prostate(2)|skin(1) 22 CACATGGGAGGAAAAAGAAAC 0.368000 3 19 0 0 1 0 0 UGT2B4 7363 broad.mit.edu 37 4 70361387 70361387 + Missense_Mutation SNP C C T rs140509960 TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr4:70361387C>T ENST00000305107.6 - 1 239 c.193G>A c.(193-195)Gat>Aat p.D65N UGT2B4_ENST00000512583.1_Missense_Mutation_p.D65N|UGT2B4_ENST00000381096.3_Intron|UGT2B4_ENST00000506580.1_5'UTR NM_021139.2 NP_066962.2 P06133 UD2B4_HUMAN UDP glucuronosyltransferase 2 family, polypeptide B4 65 estrogen catabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome glucuronosyltransferase activity p.D65N(1) autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(29)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 47 CTGTTGGGATCGAAAGAAATG 0.398000 40 107 0 0 1 0 0 SLC1A6 6511 broad.mit.edu 37 19 15079115 15079115 + Splice_Site SNP C C T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr19:15079115C>T ENST00000598504.1 - 6 1907 c.548_splice c.e6+1 p.R183_splice SLC1A6_ENST00000430939.2_Intron|SLC1A6_ENST00000544886.2_Splice_Site_p.R183_splice|SLC1A6_ENST00000600144.1_Splice_Site_p.R183_splice|SLC1A6_ENST00000221742.3_Splice_Site_p.R183_splice NM_001272087.1 NP_001259016.1 P48664 EAA4_HUMAN solute carrier family 1 (high affinity aspartate/glutamate transporter), member 6 183 synaptic transmission integral to plasma membrane|membrane fraction high-affinity glutamate transmembrane transporter activity|L-aspartate transmembrane transporter activity|sodium:dicarboxylate symporter activity breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(8)|liver(1)|lung(12)|ovary(3)|pancreas(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 42 L-Glutamic Acid(DB00142) gttggcaCACCTGATCAGGTC 0.507000 3 11 0 0 1 0 0 STATH 6779 broad.mit.edu 37 4 70864163 70864163 + Silent SNP C C T rs144461948 TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr4:70864163C>T ENST00000246895.4 + 2 120 c.9C>T c.(7-9)ttC>ttT p.F3F STATH_ENST00000381060.2_Silent_p.F3F NM_003154.2 NP_003145.1 P02808 STAT_HUMAN statherin 3 biomineral tissue development|negative regulation of bone mineralization|ossification|saliva secretion extracellular region extracellular matrix constituent, lubricant activity|hydroxyapatite binding|protein binding|structural constituent of tooth enamel p.F3F(1) lung(2)|skin(1) 3 CTATGAAGTTCCTTGTCTTTG 0.378000 23 60 0 0 1 0 0 FAM83B 222584 broad.mit.edu 37 6 54806758 54806758 + Nonsense_Mutation SNP C C T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr6:54806758C>T ENST00000306858.7 + 5 3105 c.2989C>T c.(2989-2991)Cga>Tga p.R997* NM_001010872.1 NP_001010872.1 Q5T0W9 FA83B_HUMAN family with sequence similarity 83, member B 997 autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1) 71 Lung NSC(77;0.0178)|Renal(3;0.122) GAACAAGTTTCGAGGATTTAT 0.333000 20 47 0 0 1 0 0 VIL1 7429 broad.mit.edu 37 2 219301314 219301314 + Missense_Mutation SNP G G A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr2:219301314G>A ENST00000248444.5 + 16 2024 c.1936G>A c.(1936-1938)Gag>Aag p.E646K VIL1_ENST00000392114.2_Missense_Mutation_p.E335K NM_007127.2 NP_009058.2 P09327 VILI_HUMAN villin 1 646 Core. actin filament capping|actin filament depolymerization|actin filament polymerization|actin filament severing|apoptosis|cellular response to epidermal growth factor stimulus|cytoplasmic actin-based contraction involved in cell motility|epidermal growth factor receptor signaling pathway|positive regulation of actin filament bundle assembly|positive regulation of epithelial cell migration|regulation of actin nucleation|regulation of cell shape|regulation of lamellipodium morphogenesis|regulation of wound healing|response to bacterium actin filament bundle|cytoplasm|filopodium tip|intracellular membrane-bounded organelle|lamellipodium|microvillus|ruffle actin filament binding|calcium ion binding|caspase inhibitor activity|lysophosphatidic acid binding|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 41 Renal(207;0.0474) Epithelial(149;6.88e-07)|all cancers(144;0.00013)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) TGACTTGGAAGAGGATGATGT 0.557000 40 144 0 0 1 0 0 ZFP91 80829 broad.mit.edu 37 11 58347022 58347022 + Missense_Mutation SNP G G A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr11:58347022G>A ENST00000316059.6 + 1 439 c.268G>A c.(268-270)Gac>Aac p.D90N ZFP91-CNTF_ENST00000389919.4_Missense_Mutation_p.D90N NM_001197051.1|NM_053023.4 NP_001183980.1|NP_444251.1 Q96JP5 ZFP91_HUMAN ZFP91 zinc finger protein 90 activation of NF-kappaB-inducing kinase activity|protein K63-linked ubiquitination nucleus nucleic acid binding|ubiquitin-protein ligase activity|zinc ion binding cervix(1)|endometrium(4)|kidney(4)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 26 Breast(21;0.00725)|all_epithelial(135;0.0101)|all_lung(304;0.24) CAGGCCTCCCGACGTCCCCGG 0.731000 3 6 0 0 1 0 0 CHEK2P2 646096 broad.mit.edu 37 15 20490539 20490539 + RNA SNP C C T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr15:20490539C>T ENST00000555186.1 + 0 519 NR_038836.1 GGTAGTGGATCCAAAGGCATG 0.443000 34 420 0 0 1 0 0 KCNA6 3742 broad.mit.edu 37 12 4919558 4919558 + Silent SNP C C T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr12:4919558C>T ENST00000433855.1 + 1 1217 c.351C>T c.(349-351)ttC>ttT p.F117F KCNA6_ENST00000280684.3_Silent_p.F117F NM_002235.3 NP_002226.1 P17658 KCNA6_HUMAN potassium voltage-gated channel, shaker-related subfamily, member 6 117 voltage-gated potassium channel complex voltage-gated potassium channel activity NS(1)|breast(3)|endometrium(5)|large_intestine(6)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(5) 49 TGGACATTTTCCTGGAGGAGA 0.672000 HNSCC(72;0.22) 25 68 0 0 1 0 0 ZNF682 91120 broad.mit.edu 37 19 20117516 20117516 + Silent SNP G G A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr19:20117516G>A ENST00000397165.2 - 4 955 c.795C>T c.(793-795)gcC>gcT p.A265A ZNF682_ENST00000596019.1_Intron|ZNF682_ENST00000358523.5_Silent_p.A233A|ZNF682_ENST00000597972.1_Silent_p.A271A|ZNF682_ENST00000595736.1_Silent_p.A189A|ZNF682_ENST00000397162.1_Silent_p.A233A NM_033196.2 NP_149973.1 O95780 ZN682_HUMAN zinc finger protein 682 265 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(1) 14 ACCAGTGAAAGGCTTTTCCAC 0.408000 22 82 0 0 1 0 0 MACF1 23499 broad.mit.edu 37 1 39788336 39788336 + Silent SNP C C T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr1:39788336C>T ENST00000564288.1 + 32 4863 c.4086C>T c.(4084-4086)tcC>tcT p.S1362S MACF1_ENST00000567887.1_Silent_p.S1399S|MACF1_ENST00000539005.1_Silent_p.S1367S|MACF1_ENST00000317713.7_Silent_p.S1367S|MACF1_ENST00000545844.1_Silent_p.S1367S|MACF1_ENST00000476350.1_3'UTR|MACF1_ENST00000372915.3_Silent_p.S1367S|MACF1_ENST00000361689.2_Silent_p.S1367S Q9UPN3 MACF1_HUMAN microtubule-actin crosslinking factor 1 1367 cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing Golgi apparatus|microtubule|ruffle membrane actin filament binding|ATPase activity|calcium ion binding|microtubule binding breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10) 203 Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204) AGCAGAAATCCCCTGGCAAGC 0.473000 31 106 0 0 1 0 0 HLCS 3141 broad.mit.edu 37 21 38308998 38308998 + Silent SNP G G A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr21:38308998G>A ENST00000399120.1 - 5 1977 c.747C>T c.(745-747)tcC>tcT p.S249S HLCS_ENST00000336648.3_Silent_p.S249S NM_001242784.1 NP_001229713.1 P50747 BPL1_HUMAN holocarboxylase synthetase (biotin-(proprionyl-CoA-carboxylase (ATP-hydrolysing)) ligase) 249 cell proliferation|histone biotinylation|response to biotin chromatin|cytosol|mitochondrion|nuclear lamina|nuclear matrix ATP binding|biotin binding|biotin-[acetyl-CoA-carboxylase] ligase activity|biotin-[methylcrotonoyl-CoA-carboxylase] ligase activity|biotin-[methylmalonyl-CoA-carboxytransferase] ligase activity|biotin-[propionyl-CoA-carboxylase (ATP-hydrolyzing)] ligase activity|enzyme binding breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|liver(1)|lung(8)|ovary(2)|upper_aerodigestive_tract(1) 24 Myeloproliferative disorder(46;0.0422) Biotin(DB00121) CAAAGGTGAAGGATGAAGACA 0.522000 12 41 0 0 1 0 0 PCSK4 54760 broad.mit.edu 37 19 1481873 1481873 + Missense_Mutation SNP G G A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr19:1481873G>A ENST00000300954.5 - 15 2214 c.2153C>T c.(2152-2154)aCc>aTc p.T718I NM_017573.3 NP_060043.2 Q6UW60 PCSK4_HUMAN proprotein convertase subtilisin/kexin type 4 718 proteolysis integral to membrane serine-type endopeptidase activity cervix(2)|endometrium(2)|kidney(1)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 15 Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) GCCTCCGAGGGTCACGGCCAG 0.716000 5 16 0 0 1 0 0 GRM6 2916 broad.mit.edu 37 5 178417617 178417617 + Silent SNP G G A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr5:178417617G>A ENST00000231188.5 - 4 1166 c.988C>T c.(988-990)Ctg>Ttg p.L330L GRM6_ENST00000517717.1_Silent_p.L330L NM_000843.3 NP_000834.2 O15303 GRM6_HUMAN glutamate receptor, metabotropic 6 330 detection of visible light|visual perception integral to plasma membrane NS(2)|breast(4)|endometrium(9)|large_intestine(12)|lung(21)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1) 55 all_cancers(89;0.000828)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351) all_cancers(40;0.0156)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) all cancers(165;0.245) CTTTTGGGCAGGATGGTGATG 0.642000 6 20 0 0 1 0 0 IFRD2 7866 broad.mit.edu 37 3 50329957 50329957 + Silent SNP G G A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr3:50329957G>A ENST00000336089.4 - 3 300 c.301C>T c.(301-303)Ctg>Ttg p.L101L IFRD2_ENST00000436390.1_5'UTR|IFRD2_ENST00000417626.2_5'UTR Q12894 IFRD2_HUMAN interferon-related developmental regulator 2 106 binding breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1) 14 BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607) TGAGCGCGCAGGCGACGGCGG 0.637000 10 36 0 0 1 0 0 PDE10A 10846 broad.mit.edu 37 6 165832235 165832235 + Missense_Mutation SNP G G A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr6:165832235G>A ENST00000366882.1 - 12 1010 c.856C>T c.(856-858)Cgt>Tgt p.R286C PDE10A_ENST00000539869.2_Missense_Mutation_p.R296C|PDE10A_ENST00000354448.4_Missense_Mutation_p.R286C Q9Y233 PDE10_HUMAN phosphodiesterase 10A 286 Allosteric effector binding.|GAF 2. platelet activation|signal transduction cytosol 3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cAMP binding|cGMP binding|metal ion binding breast(4)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(39)|ovary(3)|skin(4)|upper_aerodigestive_tract(1) 71 Breast(66;0.000425)|Prostate(117;0.104)|Ovarian(120;0.221) OV - Ovarian serous cystadenocarcinoma(33;1.5e-17)|BRCA - Breast invasive adenocarcinoma(81;1.8e-06)|GBM - Glioblastoma multiforme(31;1.92e-05) Dipyridamole(DB00975) AGCGCACAACGATCGGCATTC 0.373000 16 39 0 0 1 0 0 ABCA8 10351 broad.mit.edu 37 17 66938086 66938086 + Silent SNP G G A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr17:66938086G>A ENST00000269080.2 - 2 227 c.90C>T c.(88-90)tcC>tcT p.S30S ABCA8_ENST00000586539.1_Silent_p.S30S|ABCA8_ENST00000430352.2_Silent_p.S30S NM_007168.2 NP_009099.1 O94911 ABCA8_HUMAN ATP-binding cassette, sub-family A (ABC1), member 8 30 integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances breast(3)|central_nervous_system(2)|endometrium(9)|kidney(5)|large_intestine(19)|liver(1)|lung(30)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|urinary_tract(4) 83 Breast(10;4.56e-13) ATACCATTAAGGACTCTCTTT 0.378000 16 46 0 0 1 0 0 NLRP1 22861 broad.mit.edu 37 17 5485193 5485193 + Missense_Mutation SNP C C T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr17:5485193C>T ENST00000345221.3 - 3 1192 c.638G>A c.(637-639)gGa>gAa p.G213E NLRP1_ENST00000269280.4_Missense_Mutation_p.G213E|NLRP1_ENST00000571307.1_5'UTR|NLRP1_ENST00000354411.3_Missense_Mutation_p.G213E|NLRP1_ENST00000572272.1_Missense_Mutation_p.G213E|NLRP1_ENST00000262467.5_Missense_Mutation_p.G213E|NLRP1_ENST00000577119.1_Missense_Mutation_p.G213E NM_014922.4|NM_033004.3|NM_033007.3 NP_055737.1|NP_127497.1|NP_127500.1 Q9C000 NALP1_HUMAN NLR family, pyrin domain containing 1 213 defense response to bacterium|induction of apoptosis|neuron apoptosis|positive regulation of interleukin-1 beta secretion|response to muramyl dipeptide cytoplasm|NALP1 inflammasome complex|nucleus ATP binding|caspase activator activity|enzyme binding|protein domain specific binding breast(4)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(17)|liver(5)|lung(17)|ovary(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 65 Colorectal(1115;3.48e-05) GTAGTAAATTCCTGACGTTTC 0.602000 31 97 0 0 1 0 0 LOC101929950 101929950 broad.mit.edu 37 17 36358958 36358958 + Silent SNP G G A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr17:36358958G>A ENST00000312412.4 - 6 732 c.733C>T c.(733-735)Ctg>Ttg p.L245L RP11-1407O15.2_ENST00000544906.1_Silent_p.L90L kidney(1)|lung(3) 4 AATGCCACCAGATATGTAGAT 0.398000 34 365 0 0 1 0 0 PCDHB15 56121 broad.mit.edu 37 5 140627082 140627082 + Missense_Mutation SNP G G A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr5:140627082G>A ENST00000231173.3 + 1 1936 c.1936G>A c.(1936-1938)Gac>Aac p.D646N NM_018935.2 NP_061758.1 Q9Y5E8 PCDBF_HUMAN 646 Cadherin 6. homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding NS(1)|breast(3)|endometrium(8)|kidney(3)|large_intestine(14)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2) 61 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) GCTGGTCAAGGACAATGGCGA 0.706000 18 80 0 0 1 0 0 KDR 3791 broad.mit.edu 37 4 55972865 55972865 + Missense_Mutation SNP C C T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr4:55972865C>T ENST00000263923.4 - 11 1820 c.1525G>A c.(1525-1527)Gga>Aga p.G509R NM_002253.2 NP_002244.1 P35968 VGFR2_HUMAN kinase insert domain receptor (a type III receptor tyrosine kinase) 509 Ig-like C2-type 5. angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape integral to plasma membrane ATP binding|growth factor binding|Hsp90 protein binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 135 all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101) Epithelial(7;0.189) Sorafenib(DB00398)|Sunitinib(DB01268) TTGTTTTTTCCTTCAATTAGA 0.323000 Mis """NSCLC, angiosarcoma""" TSP Lung(20;0.16) 10 31 0 0 1 0 0 OR1A2 26189 broad.mit.edu 37 17 3100893 3100893 + Silent SNP C C T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr17:3100893C>T ENST00000381951.1 + 1 81 c.81C>T c.(79-81)ttC>ttT p.F27F NM_012352.1 NP_036484.1 Q9Y585 OR1A2_HUMAN olfactory receptor, family 1, subfamily A, member 2 27 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(4)|large_intestine(2)|lung(5)|skin(4)|stomach(2) 18 ATAATGTCTTCTTTGTGATTT 0.403000 40 118 0 0 1 0 0 PLCH1 23007 broad.mit.edu 37 3 155200375 155200375 + Missense_Mutation SNP T T C TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr3:155200375T>C ENST00000460012.1 - 23 3707 c.3350A>G c.(3349-3351)gAc>gGc p.D1117G PLCH1_ENST00000447496.2_3'UTR|PLCH1_ENST00000414191.1_Missense_Mutation_p.D1117G|PLCH1_ENST00000340059.7_Missense_Mutation_p.D1155G|PLCH1_ENST00000334686.6_Missense_Mutation_p.D1117G|PLCH1_ENST00000494598.1_Intron Q4KWH8 PLCH1_HUMAN phospholipase C, eta 1 1155 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) CATGGAGACGTCTGACAAAGA 0.423000 25 65 0 0 1 0 0 CEACAM18 729767 broad.mit.edu 37 19 51984797 51984797 + Missense_Mutation SNP C C T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr19:51984797C>T ENST00000396477.4 + 3 572 c.551C>T c.(550-552)tCc>tTc p.S184F CEACAM18_ENST00000451626.1_Missense_Mutation_p.S245F NM_001278392.1 NP_001265321.1 A8MTB9 CEA18_HUMAN carcinoembryonic antigen-related cell adhesion molecule 18 245 integral to membrane breast(1)|endometrium(4)|large_intestine(3)|lung(8)|skin(1) 17 all_neural(266;0.0529) GBM - Glioblastoma multiforme(134;0.00148)|OV - Ovarian serous cystadenocarcinoma(262;0.00979) ATGACAATTTCCCCAGACGGC 0.483000 8 59 0 0 1 0 0 FLNA 2316 broad.mit.edu 37 X 153594930 153594930 + Splice_Site SNP C C T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chrX:153594930C>T ENST00000422373.1 - 7 1313 c.1065_splice c.e7+1 p.K355_splice FLNA_ENST00000344736.4_Splice_Site_p.K355_splice|FLNA_ENST00000369850.3_Splice_Site_p.K355_splice|FLNA_ENST00000360319.4_Splice_Site_p.K355_splice NM_001456.3 NP_001447.2 P21333 FLNA_HUMAN filamin A, alpha 355 actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering cell cortex|cytosol|extracellular region|nucleus|plasma membrane actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding breast(6) 6 all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176) AAGGGCTCACCTTATGAGTCC 0.627000 20 45 0 0 1 0 0 GOT1 2805 broad.mit.edu 37 10 101162412 101162412 + Missense_Mutation SNP C C T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr10:101162412C>T ENST00000370508.5 - 8 1054 c.1027G>A c.(1027-1029)Gaa>Aaa p.E343K GOT1_ENST00000543866.1_Missense_Mutation_p.E322K NM_002079.2 NP_002070.1 P17174 AATC_HUMAN glutamic-oxaloacetic transaminase 1, soluble 343 aspartate catabolic process|cellular response to insulin stimulus|gluconeogenesis|response to glucocorticoid stimulus cytosol L-aspartate:2-oxoglutarate aminotransferase activity|pyridoxal phosphate binding endometrium(2)|kidney(1)|large_intestine(6)|lung(5)|prostate(2) 16 Ovarian(717;0.028)|Colorectal(252;0.234) Epithelial(162;4.76e-10)|all cancers(201;3.84e-08) L-Aspartic Acid(DB00128)|L-Cysteine(DB00151)|L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114) TTGAGGGCTTCTAGTCGTGCC 0.517000 23 54 0 0 1 0 0 DFNB31 25861 broad.mit.edu 37 9 117185767 117185767 + Missense_Mutation SNP G G A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr9:117185767G>A ENST00000362057.3 - 7 1621 c.1453C>T c.(1453-1455)Ccg>Tcg p.P485S DFNB31_ENST00000374059.3_Missense_Mutation_p.P134S|DFNB31_ENST00000265134.6_Missense_Mutation_p.P102S NM_001173425.1|NM_015404.3 NP_001166896.1|NP_056219.3 Q9P202 WHRN_HUMAN deafness, autosomal recessive 31 485 inner ear receptor stereocilium organization|retina homeostasis|sensory perception of light stimulus|sensory perception of sound cytoplasm|growth cone|stereocilium central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(14)|ovary(5)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 38 AGGTCTTGCGGGGAAATGGTG 0.632000 17 73 0 0 1 0 0 B3GNT3 10331 broad.mit.edu 37 19 17922508 17922508 + Silent SNP C C T rs141805771 TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr19:17922508C>T ENST00000318683.6 + 3 843 c.696C>T c.(694-696)caC>caT p.H232H B3GNT3_ENST00000595387.1_Silent_p.H232H NM_014256.3 NP_055071.2 Q9Y2A9 B3GN3_HUMAN UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 3 232 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 CTGGCCGCCACCTCTTCGTGG 0.577000 26 62 0 0 1 0 0 ADNP2 22850 broad.mit.edu 37 18 77895176 77895176 + Missense_Mutation SNP C C T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr18:77895176C>T ENST00000262198.4 + 4 2335 c.1880C>T c.(1879-1881)cCc>cTc p.P627L NM_014913.3 NP_055728.1 Q6IQ32 ADNP2_HUMAN ADNP homeobox 2 627 cellular response to oxidative stress|cellular response to retinoic acid|negative regulation of cell death|neuron differentiation|positive regulation of cell growth nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(9)|liver(1)|lung(15)|ovary(5)|prostate(2) 42 all_cancers(4;1.06e-15)|all_epithelial(4;2.36e-10)|all_lung(4;0.000302)|Lung NSC(4;0.000518)|Esophageal squamous(42;0.0212)|Ovarian(4;0.0256)|all_hematologic(56;0.15)|Melanoma(33;0.2) Epithelial(2;1.1e-11)|OV - Ovarian serous cystadenocarcinoma(15;7.54e-09)|BRCA - Breast invasive adenocarcinoma(31;0.00247)|STAD - Stomach adenocarcinoma(84;0.164) CTGCCGGTTCCCCCTGGAGGC 0.617000 11 45 0 0 1 0 0 HHLA2 11148 broad.mit.edu 37 3 108072559 108072559 + Missense_Mutation SNP G G A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr3:108072559G>A ENST00000357759.5 + 4 764 c.350G>A c.(349-351)gGa>gAa p.G117E HHLA2_ENST00000467761.1_Missense_Mutation_p.G117E|HHLA2_ENST00000489514.2_Missense_Mutation_p.G117E|HHLA2_ENST00000467562.1_Missense_Mutation_p.G53E|HHLA2_ENST00000491820.1_Missense_Mutation_p.G117E NM_007072.2 NP_009003.1 Q9UM44 HHLA2_HUMAN HERV-H LTR-associating 2 117 Ig-like V-type 1. integral to membrane endometrium(2)|large_intestine(1)|lung(14)|ovary(1) 18 CTGGACGAAGGAATTTACACC 0.403000 13 40 0 0 1 0 0 IRGC 56269 broad.mit.edu 37 19 44223535 44223535 + Silent SNP C C T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr19:44223535C>T ENST00000244314.5 + 2 1024 c.825C>T c.(823-825)ggC>ggT p.G275G NM_019612.3 NP_062558.1 Q6NXR0 IIGP5_HUMAN immunity-related GTPase family, cinema 275 membrane GTP binding|hydrolase activity, acting on acid anhydrides central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|skin(2) 25 Prostate(69;0.0435) TGGTGTTGGGCGTCATCCAGG 0.637000 19 52 0 0 1 0 0 OR4C6 219432 broad.mit.edu 37 11 55433330 55433330 + Missense_Mutation SNP G G A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr11:55433330G>A ENST00000314259.3 + 1 717 c.688G>A c.(688-690)Ggg>Agg p.G230R NM_001004704.1 NP_001004704.1 Q8NH72 OR4C6_HUMAN olfactory receptor, family 4, subfamily C, member 6 230 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|lung(49)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 71 CAGCTCTAAAGGGCGGCACAA 0.493000 22 103 0 0 1 0 0 PCDHGA8 9708 broad.mit.edu 37 5 140774693 140774693 + Silent SNP C C T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr5:140774693C>T ENST00000398604.2 + 1 2313 c.2313C>T c.(2311-2313)ccC>ccT p.P771P PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron NM_032088.1 NP_114477.1 endometrium(6)|kidney(6)|large_intestine(6)|lung(30)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1) 51 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TGATCTTTCCCCAGCCCAACT 0.483000 18 86 0 0 1 0 0 CSMD2 114784 broad.mit.edu 37 1 33990587 33990587 + Missense_Mutation SNP C C T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr1:33990587C>T ENST00000373381.4 - 66 10467 c.10291G>A c.(10291-10293)Ggg>Agg p.G3431R NM_052896.3 NP_443128.2 Q7Z408 CSMD2_HUMAN CUB and Sushi multiple domains 2 3287 integral to membrane|plasma membrane protein binding NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1) 246 Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249) TGCTTCTTCCCCTGGTATTCA 0.512000 79 108 0 0 1 0 0 IL13RA2 3598 broad.mit.edu 37 X 114251824 114251824 + Silent SNP G G A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chrX:114251824G>A ENST00000371936.1 - 3 258 c.9C>T c.(7-9)ttC>ttT p.F3F IL13RA2_ENST00000468224.1_5'UTR|IL13RA2_ENST00000243213.1_Silent_p.F3F Q14627 I13R2_HUMAN interleukin 13 receptor, alpha 2 3 extracellular space|integral to membrane|soluble fraction cytokine receptor activity p.F3F(1) NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(6)|ovary(1)|skin(4)|upper_aerodigestive_tract(1) 23 CCAAGCAAACGAAAGCCATTT 0.328000 18 63 0 0 1 0 0 MUC2 4583 broad.mit.edu 37 11 1083140 1083140 + Silent SNP C C T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr11:1083140C>T ENST00000441003.2 + 16 2067 c.2040C>T c.(2038-2040)tcC>tcT p.S680S MUC2_ENST00000359061.5_Silent_p.S680S NM_002457.2 NP_002448.2 Q02817 MUC2_HUMAN mucin 2, oligomeric mucus/gel-forming 680 inner mucus layer|outer mucus layer protein binding NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2) 102 all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191) BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703) Pranlukast(DB01411) CCTGCCGCTCCCTCTCCGAGG 0.657000 6 17 0 0 1 0 0 OGDH 4967 broad.mit.edu 37 7 44685012 44685012 + Silent SNP C C T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr7:44685012C>T ENST00000222673.5 + 3 351 c.309C>T c.(307-309)tcC>tcT p.S103S OGDH_ENST00000449767.1_Silent_p.S103S|OGDH_ENST00000447398.1_Silent_p.S103S|OGDH_ENST00000444676.1_Silent_p.S103S|OGDH_ENST00000443864.2_Silent_p.S103S|OGDH_ENST00000439616.2_Intron|OGDH_ENST00000543843.1_Silent_p.S43S NM_002541.3 NP_002532.2 Q02218 ODO1_HUMAN oxoglutarate (alpha-ketoglutarate) dehydrogenase (lipoamide) 103 glycolysis|lysine catabolic process|tricarboxylic acid cycle mitochondrial matrix|mitochondrial membrane oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding breast(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(4) 36 NADH(DB00157) GCCGAGGCTCCCTGGCTGCTG 0.592000 29 104 0 0 1 0 0 CARM1 10498 broad.mit.edu 37 19 11022910 11022910 + Silent SNP C C T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr19:11022910C>T ENST00000327064.4 + 5 799 c.609C>T c.(607-609)gcC>gcT p.A203A CARM1_ENST00000344150.4_Silent_p.A203A NM_199141.1 NP_954592.1 Q86X55 CARM1_HUMAN coactivator-associated arginine methyltransferase 1 203 cellular lipid metabolic process|histone H3-R2 methylation|interspecies interaction between organisms|pathogenesis|positive regulation of fat cell differentiation|regulation of estrogen receptor signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytosol|nucleoplasm beta-catenin binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-R17 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein-arginine omega-N asymmetric methyltransferase activity|transcription regulatory region DNA binding breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|urinary_tract(1) 13 TTTTTGCCGCCCAAGCTGGAG 0.627000 64 227 0 0 1 0 0 RBPMS 11030 broad.mit.edu 37 8 30407079 30407079 + Silent SNP C C T rs147114264 byFrequency TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr8:30407079C>T ENST00000287771.5 + 7 1157 c.591C>T c.(589-591)gcC>gcT p.A197A RBPMS_ENST00000538486.1_Intron|RBPMS_ENST00000320203.4_Intron|RBPMS_ENST00000397323.4_Intron NM_001008711.1 NP_001008711.1 Q93062 RBPMS_HUMAN RNA binding protein with multiple splicing 0 positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|regulation of transcription, DNA-dependent|RNA processing|transcription, DNA-dependent cytoplasm|nucleus nucleotide binding|poly(A) RNA binding|protein binding|transcription coactivator activity autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 13 KIRC - Kidney renal clear cell carcinoma(542;0.144)|Kidney(114;0.172) CTGATAGTGCCAGCCTGGCCT 0.572000 23 59 0 0 1 0 0 INMT 11185 broad.mit.edu 37 7 30795321 30795321 + Silent SNP C C T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr7:30795321C>T ENST00000013222.5 + 3 662 c.646C>T c.(646-648)Ctg>Ttg p.L216L INMT-FAM188B_ENST00000458257.1_Intron|INMT_ENST00000409539.1_Silent_p.L215L|INMT_ENST00000484180.1_3'UTR NM_001199219.1|NM_006774.4 NP_001186148.1|NP_006765.4 O95050 INMT_HUMAN indolethylamine N-methyltransferase 216 cytoplasm amine N-methyltransferase activity kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|stomach(1) 23 CTGCGTGGCCCTGGAGAAAGA 0.587000 24 63 0 0 1 0 0 GUCA1C 9626 broad.mit.edu 37 3 108627001 108627001 + Missense_Mutation SNP C C T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr3:108627001C>T ENST00000393963.3 - 4 537 c.538G>A c.(538-540)Gga>Aga p.G180R GUCA1C_ENST00000261047.3_Silent_p.L166L O95843 GUC1C_HUMAN guanylate cyclase activator 1C 0 signal transduction|visual perception calcium ion binding|calcium sensitive guanylate cyclase activator activity endometrium(2)|large_intestine(1)|liver(1)|lung(8)|pancreas(1)|skin(1) 14 AAACAATCTCCAGGAGATCCT 0.408000 15 58 0 0 1 0 0 C9orf152 401546 broad.mit.edu 37 9 112963442 112963442 + Missense_Mutation SNP C C T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr9:112963442C>T ENST00000400613.4 - 2 1115 c.506G>A c.(505-507)gGa>gAa p.G169E C9orf152_ENST00000473442.1_Intron NM_001012993.2 NP_001013011.2 Q5JTZ5 CI152_HUMAN chromosome 9 open reading frame 152 169 NS(1)|endometrium(1)|large_intestine(1)|lung(1)|skin(1)|stomach(1) 6 GATTCCGGTTCCTTGCTGAGT 0.493000 58 162 0 0 1 0 0 VWF 7450 broad.mit.edu 37 12 6153610 6153610 + Missense_Mutation SNP C C A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr12:6153610C>A ENST00000261405.5 - 18 2543 c.2289G>T c.(2287-2289)agG>agT p.R763S NM_000552.3 NP_000543.2 P04275 VWF_HUMAN von Willebrand factor 763 blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5) 129 Antihemophilic Factor(DB00025) AGGATAGGCTCCTTTTGCCTC 0.532000 7 27 1.06961e-07 1.08857e-07 1 1 0 RERGL 79785 broad.mit.edu 37 12 18234310 18234310 + Missense_Mutation SNP T T A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr12:18234310T>A ENST00000229002.2 - 6 639 c.433A>T c.(433-435)Aac>Tac p.N145Y RERGL_ENST00000536890.1_3'UTR|RERGL_ENST00000538724.1_Missense_Mutation_p.N144Y|RERGL_ENST00000541632.1_5'UTR NM_024730.2 NP_079006.1 Q9H628 RERGL_HUMAN RERG/RAS-like 145 Small GTPase-like. signal transduction membrane GTP binding|GTPase activity endometrium(1)|large_intestine(5)|lung(8)|prostate(1)|skin(1)|urinary_tract(1) 17 TGGCATCGGTTTTCCAGTGCC 0.458000 18 71 0 0 1 0 0 DNAH3 55567 broad.mit.edu 37 16 21065751 21065751 + Silent SNP G G A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr16:21065751G>A ENST00000261383.3 - 28 4028 c.4029C>T c.(4027-4029)atC>atT p.I1343I DNAH3_ENST00000415178.1_Silent_p.I1343I NM_017539.1 NP_060009.1 Q8TD57 DYH3_HUMAN dynein, axonemal, heavy chain 3 1343 Stem (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6) 202 GBM - Glioblastoma multiforme(48;0.207) CGTGGACATCGATGACCGTGA 0.532000 14 33 0 0 1 0 0 GABRG2 2566 broad.mit.edu 37 5 161569295 161569295 + Missense_Mutation SNP G G A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr5:161569295G>A ENST00000356592.3 + 7 1355 c.895G>A c.(895-897)Gat>Aat p.D299N GABRG2_ENST00000393933.4_Missense_Mutation_p.D204N|GABRG2_ENST00000361925.4_Missense_Mutation_p.D299N|GABRG2_ENST00000414552.2_Missense_Mutation_p.D339N NM_000816.3|NM_198904.2 NP_000807.2|NP_944494.1 P18507 GBRG2_HUMAN gamma-aminobutyric acid (GABA) A receptor, gamma 2 299 gamma-aminobutyric acid signaling pathway cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|protein binding NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(15)|lung(24)|ovary(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 62 Renal(175;0.000319) Medulloblastoma(196;0.0208)|all_neural(177;0.0672) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) all cancers(165;0.0734)|OV - Ovarian serous cystadenocarcinoma(192;0.135)|Epithelial(171;0.136) GATCAATAAGGATGCTGTTCC 0.403000 39 97 0 0 1 0 0 DCLK3 85443 broad.mit.edu 37 3 36756934 36756934 + Missense_Mutation SNP G G A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr3:36756934G>A ENST00000416516.2 - 5 2322 c.1832C>T c.(1831-1833)cCc>cTc p.P611L NM_033403.1 NP_208382.1 Q9C098 DCLK3_HUMAN doublecortin-like kinase 3 611 Protein kinase. cytoplasm|nucleus ATP binding|protein serine/threonine kinase activity breast(3)|endometrium(3)|kidney(2)|large_intestine(11)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 48 TTCGATCCAGGGGTGCTGAAG 0.552000 17 56 0 0 1 0 0 MALT1 10892 broad.mit.edu 37 18 56390484 56390484 + Splice_Site SNP G G T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr18:56390484G>T ENST00000348428.3 + 10 1480 c.e10+1 MALT1_ENST00000345724.3_Splice_Site|RP11-126O1.4_ENST00000588835.1_RNA NM_006785.2|NM_173844.1 NP_006776.1|NP_776216.1 Q9UDY8 MALT1_HUMAN mucosa associated lymphoid tissue lymphoma translocation gene 1 activation of NF-kappaB-inducing kinase activity|anti-apoptosis|nuclear export|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-2 production|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphorylation|positive regulation of protein ubiquitination|positive regulation of T cell cytokine production|protein oligomerization|proteolysis|T cell receptor signaling pathway CBM complex|cytosol|nucleus|perinuclear region of cytoplasm cysteine-type endopeptidase activity|protein self-association|signal transducer activity|ubiquitin-protein ligase activity central_nervous_system(1)|large_intestine(7)|lung(1)|ovary(2)|skin(1) 12 GGAGTATATGGTAAGATATTT 0.308000 T BIRC3 MALT 7 39 0.00307968 0.00308736 1 1 0 POLR2A 5430 broad.mit.edu 37 17 7401454 7401454 + Silent SNP C C T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr17:7401454C>T ENST00000322644.6 + 8 1659 c.1260C>T c.(1258-1260)atC>atT p.I420I POLR2A_ENST00000572844.1_Silent_p.I420I NM_000937.4 NP_000928.1 P24928 RPB1_HUMAN polymerase (RNA) II (DNA directed) polypeptide A, 220kDa 420 mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction DNA-directed RNA polymerase II, core complex DNA binding|DNA-directed RNA polymerase activity|metal ion binding|RNA-directed RNA polymerase activity|ubiquitin protein ligase binding breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(17)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 50 Prostate(122;0.173) AGTACATCATCCGAGACAATG 0.532000 21 63 0 0 1 0 0 MGAM 8972 broad.mit.edu 37 7 141758083 141758083 + Silent SNP G G A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr7:141758083G>A ENST00000475668.2 + 31 3828 c.3774G>A c.(3772-3774)gaG>gaA p.E1258E MGAM_ENST00000549489.2_Silent_p.E1258E O43451 MGA_HUMAN maltase-glucoamylase (alpha-glucosidase) 1258 Glucoamylase. polysaccharide digestion|starch catabolic process apical plasma membrane|integral to membrane carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2) 13 Melanoma(164;0.0272) Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878) ATGACTCTGAGATCGCCAGCT 0.488000 60 208 0 0 1 0 0 SLC47A2 146802 broad.mit.edu 37 17 19611819 19611819 + Splice_Site SNP C C A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr17:19611819C>A ENST00000325411.5 - 7 583 c.531_splice c.e7-1 p.G178_splice SLC47A2_ENST00000463318.1_Intron|SLC47A2_ENST00000350657.5_Intron NM_152908.3 NP_690872.2 Q86VL8 S47A2_HUMAN solute carrier family 47 (multidrug and toxin extrusion), member 2 178 integral to membrane|plasma membrane drug:hydrogen antiporter activity endometrium(2)|kidney(3)|large_intestine(2)|lung(1)|ovary(1) 9 all_cancers(12;2.3e-05)|all_epithelial(12;0.0024)|Breast(13;0.245) CTTCAGCCATCCCTGTTGAGG 0.567000 43 175 3.76604e-16 3.85719e-16 1 1 0 FAM188B 84182 broad.mit.edu 37 7 30831094 30831094 + Missense_Mutation SNP C C T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr7:30831094C>T ENST00000265299.6 + 5 1054 c.977C>T c.(976-978)cCc>cTc p.P326L INMT-FAM188B_ENST00000458257.1_3'UTR NM_032222.2 NP_115598.2 Q4G0A6 F188B_HUMAN family with sequence similarity 188, member B 326 endometrium(1)|large_intestine(5)|lung(19)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 GACAGGATGCCCTTGAAGCTC 0.637000 13 31 0 0 1 0 0 KRT73 319101 broad.mit.edu 37 12 53002027 53002027 + Missense_Mutation SNP C C T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr12:53002027C>T ENST00000305748.3 - 9 1610 c.1576G>A c.(1576-1578)Gga>Aga p.G526R RP11-641A6.2_ENST00000551089.1_RNA NM_175068.2 NP_778238.1 Q86Y46 K2C73_HUMAN keratin 73 526 Tail. keratin filament structural molecule activity NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 44 BRCA - Breast invasive adenocarcinoma(357;0.189) AAGGTCTTTCCCTGGGAGTCC 0.567000 42 132 0 0 1 0 0 THSD7A 221981 broad.mit.edu 37 7 11500355 11500355 + Missense_Mutation SNP G G A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr7:11500355G>A ENST00000423059.3 - 11 2790 c.2539C>T c.(2539-2541)Cct>Tct p.P847S AC004538.3_ENST00000445839.1_RNA NM_015204.2 NP_056019.1 Q9UPZ6 THS7A_HUMAN thrombospondin, type I, domain containing 7A 847 integral to membrane NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11) 113 UCEC - Uterine corpus endometrioid carcinoma (126;0.163) ACGCTCCAAGGGACTAATTGG 0.547000 HNSCC(18;0.044) 4 15 0 0 1 0 0 TRAV26-2 28656 broad.mit.edu 37 14 22670506 22670506 + RNA SNP C C T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr14:22670506C>T ENST00000390460.1 + 0 30 TTACTGTACTCCTATCTTTGG 0.438000 9 31 0 0 1 0 0 LRP2 4036 broad.mit.edu 37 2 170062081 170062081 + Silent SNP G G A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr2:170062081G>A ENST00000263816.3 - 41 7908 c.7623C>T c.(7621-7623)ttC>ttT p.F2541F NM_004525.2 NP_004516.2 P98164 LRP2_HUMAN low density lipoprotein receptor-related protein 2 2541 hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process coated pit|integral to membrane|lysosome calcium ion binding|receptor activity|SH3 domain binding biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13) 315 STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101) Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013) TGGGTACGCGGAAGTTTCCTC 0.488000 37 67 0 0 1 0 0 CPSF1 29894 broad.mit.edu 37 8 145619714 145619714 + Silent SNP C C T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr8:145619714C>T ENST00000349769.3 - 32 3718 c.3624G>A c.(3622-3624)acG>acA p.T1208T NM_013291.2 NP_037423.2 Q10570 CPSF1_HUMAN cleavage and polyadenylation specific factor 1, 160kDa 1208 mRNA cleavage|mRNA export from nucleus|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription mRNA cleavage and polyadenylation specificity factor complex mRNA 3'-UTR binding|protein binding p.T1208T(1) NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 38 all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;2.88e-41)|Epithelial(56;1.67e-40)|all cancers(56;1.2e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0323)|Colorectal(110;0.055) TGTAGAGCTGCGTGTCGATGA 0.622000 12 15 0 0 1 0 0 PITPNA 5306 broad.mit.edu 37 17 1438746 1438746 + Missense_Mutation SNP G G A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr17:1438746G>A ENST00000313486.7 - 8 778 c.523C>T c.(523-525)Ccc>Tcc p.P175S PITPNA_ENST00000539476.1_Missense_Mutation_p.P175S NM_006224.3 NP_006215.1 Q00169 PIPNA_HUMAN phosphatidylinositol transfer protein, alpha 175 axon guidance|lipid metabolic process|visual perception cytoplasm phosphatidylcholine transmembrane transporter activity|phosphatidylinositol transporter activity|protein binding central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1) 7 UCEC - Uterine corpus endometrioid carcinoma (25;0.0845) TTCCAATTGGGGCCCAAGGGT 0.567000 7 29 0 0 1 0 0 GCN1L1 10985 broad.mit.edu 37 12 120600896 120600896 + Silent SNP G G A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr12:120600896G>A ENST00000300648.6 - 19 2028 c.2016C>T c.(2014-2016)atC>atT p.I672I NM_006836.1 NP_006827.1 Q92616 GCN1L_HUMAN GCN1 general control of amino-acid synthesis 1-like 1 (yeast) 672 regulation of translation ribosome protein binding|translation factor activity, nucleic acid binding NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 94 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) GGTGGGAGATGATCAGCATTT 0.607000 16 54 0 0 1 0 0 CCT8L2 150160 broad.mit.edu 37 22 17071989 17071989 + Silent SNP C C T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr22:17071989C>T ENST00000359963.3 - 1 1711 c.1452G>A c.(1450-1452)ggG>ggA p.G484G NM_014406.4 NP_055221.1 Q96SF2 TCPQM_HUMAN chaperonin containing TCP1, subunit 8 (theta)-like 2 484 cellular protein metabolic process cytoplasm anion channel activity|ATP binding|calcium-activated potassium channel activity breast(3)|endometrium(7)|kidney(1)|large_intestine(8)|liver(2)|lung(37)|ovary(3)|prostate(3)|skin(2)|stomach(1) 67 all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977) all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175) CATTTATTATCCCTTCAGTTC 0.527000 42 149 0 0 1 0 0 NUB1 51667 broad.mit.edu 37 7 151072975 151072975 + Silent SNP C C T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr7:151072975C>T ENST00000568733.1 + 13 1575 c.1509C>T c.(1507-1509)tcC>tcT p.S503S NUB1_ENST00000566856.1_Silent_p.S465S|NUB1_ENST00000355851.4_Silent_p.S479S|NUB1_ENST00000413040.2_Silent_p.S489S Q9Y5A7 NUB1_HUMAN negative regulator of ubiquitin-like proteins 1 479 UBA 3. positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination|response to interferon-gamma|response to tumor necrosis factor|ubiquitin-dependent protein catabolic process nucleus protein binding endometrium(1)|large_intestine(7)|lung(3) 11 OV - Ovarian serous cystadenocarcinoma(82;0.00569) UCEC - Uterine corpus endometrioid carcinoma (81;0.172) TAAATGATTCCAATCCTGAAA 0.483000 40 163 0 0 1 0 0 MAP3K4 4216 broad.mit.edu 37 6 161508765 161508765 + Missense_Mutation SNP A A T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr6:161508765A>T ENST00000392142.4 + 10 2750 c.2602A>T c.(2602-2604)Act>Tct p.T868S MAP3K4_ENST00000348824.7_Missense_Mutation_p.T868S|MAP3K4_ENST00000366919.2_Missense_Mutation_p.T868S|MAP3K4_ENST00000366920.2_Missense_Mutation_p.T868S NM_005922.2 NP_005913.2 Q9Y6R4 M3K4_HUMAN mitogen-activated protein kinase kinase kinase 4 868 activation of MAPKK activity|JNK cascade|positive regulation of JUN kinase activity perinuclear region of cytoplasm ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein binding breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|lung(28)|ovary(3)|skin(2)|stomach(1) 77 Breast(66;0.000776)|Ovarian(120;0.0367)|Prostate(117;0.0771) OV - Ovarian serous cystadenocarcinoma(65;1.85e-18)|BRCA - Breast invasive adenocarcinoma(81;3.04e-05) TGTTCCAGACACTCTTGCTGA 0.388000 23 80 0 0 1 0 0 SEC24D 9871 broad.mit.edu 37 4 119736678 119736678 + Missense_Mutation SNP G G A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr4:119736678G>A ENST00000379735.5 - 5 872 c.601C>T c.(601-603)Cct>Tct p.P201S SEC24D_ENST00000419654.2_5'UTR|SEC24D_ENST00000280551.6_Missense_Mutation_p.P201S NM_014822.2 NP_055637.2 O94855 SC24D_HUMAN SEC24 family member D 201 Pro-rich. COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm zinc ion binding breast(3)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(13)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 37 GCATTTGGAGGAGGAGGCCCA 0.597000 19 61 0 0 1 0 0 MUC17 140453 broad.mit.edu 37 7 100683600 100683600 + Missense_Mutation SNP C C T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr7:100683600C>T ENST00000306151.4 + 3 8967 c.8903C>T c.(8902-8904)tCt>tTt p.S2968F NM_001040105.1 NP_001035194.1 Q685J3 MUC17_HUMAN mucin 17, cell surface associated 2968 59 X approximate tandem repeats.|Ser-rich. extracellular region|integral to membrane|plasma membrane extracellular matrix constituent, lubricant activity NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4) 343 Lung NSC(181;0.136)|all_lung(186;0.182) GCTAGTTCTTCTCCTACAACT 0.527000 128 407 0 0 1 0 0 RAF1 5894 broad.mit.edu 37 3 12650812 12650812 + Missense_Mutation SNP T T G TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr3:12650812T>G ENST00000251849.4 - 4 782 c.343A>C c.(343-345)Aat>Cat p.N115H RAF1_ENST00000542177.1_Missense_Mutation_p.N34H|RAF1_ENST00000442415.2_Missense_Mutation_p.N115H NM_002880.3 NP_002871.1 P04049 RAF1_HUMAN v-raf-1 murine leukemia viral oncogene homolog 1 115 RBD. activation of MAPKK activity|apoptosis|axon guidance|cell proliferation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|negative regulation of apoptosis|negative regulation of cell proliferation|negative regulation of protein complex assembly|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of peptidyl-serine phosphorylation|Ras protein signal transduction|synaptic transmission cytosol|mitochondrial outer membrane|plasma membrane ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|receptor signaling protein activity ESRP1/RAF1(4)|RAF1/DAZL(2)|SRGAP3/RAF1(6) biliary_tract(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1) 32 Sorafenib(DB00398) GCATCAGTATTCCAATCTAAG 0.338000 T SRGAP3 pilocytic astrocytoma Noonan syndrome 32 92 0 0 1 0 0 EIF1AX 1964 broad.mit.edu 37 X 20156729 20156729 + Missense_Mutation SNP T T C TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chrX:20156729T>C ENST00000379607.5 - 2 231 c.28A>G c.(28-30)Aaa>Gaa p.K10E EIF1AX_ENST00000379593.1_Intron NM_001412.3 NP_001403.1 P47813 IF1AX_HUMAN eukaryotic translation initiation factor 1A, X-linked 10 cytosol translation initiation factor activity endometrium(2)|lung(1)|ovary(1)|prostate(1) 5 CGTCTGTTTTTACCTCCTTTA 0.308000 31 70 0 0 1 0 0 TAT 6898 broad.mit.edu 37 16 71602113 71602113 + Silent SNP C C T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr16:71602113C>T ENST00000355962.4 - 12 1432 c.1299G>A c.(1297-1299)cgG>cgA p.R433R RP11-432I5.1_ENST00000561529.1_RNA NM_000353.2 NP_000344.1 P17735 ATTY_HUMAN tyrosine aminotransferase 433 2-oxoglutarate metabolic process|glutamate metabolic process|L-phenylalanine catabolic process|tyrosine catabolic process cytosol 1-aminocyclopropane-1-carboxylate synthase activity|L-tyrosine:2-oxoglutarate aminotransferase activity|pyridoxal phosphate binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(3) 29 Ovarian(137;0.125) Kidney(780;0.0157) L-Glutamic Acid(DB00142)|L-Phenylalanine(DB00120)|L-Tyrosine(DB00135)|Pyridoxal Phosphate(DB00114) ACTCCTGGATCCGGCTGCACG 0.517000 15 48 0 0 1 0 0 OR10G4 390264 broad.mit.edu 37 11 123886368 123886368 + Silent SNP C C T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr11:123886368C>T ENST00000320891.4 + 1 87 c.87C>T c.(85-87)ttC>ttT p.F29F NM_001004462.1 NP_001004462.1 Q8NGN3 O10G4_HUMAN olfactory receptor, family 10, subfamily G, member 4 29 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(1)|skin(4)|stomach(6)|upper_aerodigestive_tract(1) 48 Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0401) TTGGAATCTTCCTGGTGGTTT 0.567000 30 69 0 0 1 0 0 GBP7 388646 broad.mit.edu 37 1 89607329 89607329 + Silent SNP T T G TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr1:89607329T>G ENST00000294671.2 - 9 1506 c.1368A>C c.(1366-1368)gcA>gcC p.A456A NM_207398.2 NP_997281.2 Q8N8V2 GBP7_HUMAN guanylate binding protein 7 456 integral to membrane GTP binding|GTPase activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 Lung NSC(277;0.0908) all cancers(265;0.00835)|Epithelial(280;0.0322) GGACCTCGTCTGCCTGAAGAA 0.483000 20 61 0 0 1 0 0 LIPN 643418 broad.mit.edu 37 10 90528662 90528662 + Silent SNP C C T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr10:90528662C>T ENST00000404459.1 + 5 649 c.649C>T c.(649-651)Cta>Tta p.L217L NM_001102469.1 NP_001095939.1 Q5VXI9 LIPN_HUMAN lipase, family member N 217 lipid catabolic process extracellular region hydrolase activity endometrium(1)|kidney(1)|large_intestine(5)|lung(1)|skin(1) 9 Colorectal(252;0.0161) Colorectal(12;4.83e-05)|COAD - Colon adenocarcinoma(12;6.5e-05) CAGGTTTTTTCTACTTCCAAA 0.368000 13 55 0 0 1 0 0 CTC-260E6.6 0 broad.mit.edu 37 19 20368517 20368517 + RNA SNP C C T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr19:20368517C>T ENST00000593655.1 - 0 199 GCGGCTCTTCCCTGGGTGGAC 0.512000 6 27 0 0 1 0 0 ERBB3 2065 broad.mit.edu 37 12 56481944 56481944 + Missense_Mutation SNP C C T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr12:56481944C>T ENST00000267101.3 + 7 1312 c.872C>T c.(871-873)cCc>cTc p.P291L ERBB3_ENST00000415288.2_Missense_Mutation_p.P232L|ERBB3_ENST00000450146.2_Intron NM_001982.3 NP_001973.2 P21860 ERBB3_HUMAN v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 3 291 cranial nerve development|heart development|negative regulation of cell adhesion|negative regulation of neuron apoptosis|negative regulation of secretion|negative regulation of signal transduction|neuron apoptosis|phosphatidylinositol 3-kinase cascade|positive regulation of phosphatidylinositol 3-kinase cascade|regulation of cell proliferation|Schwann cell differentiation|transmembrane receptor protein tyrosine kinase signaling pathway|wound healing basolateral plasma membrane|extracellular space|integral to plasma membrane|receptor complex ATP binding|growth factor binding|protein heterodimerization activity|protein homodimerization activity|protein tyrosine kinase activator activity|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity central_nervous_system(2)|lung(3)|ovary(1)|skin(1)|stomach(1) 8 OV - Ovarian serous cystadenocarcinoma(18;0.112) GCCAGCTGTCCCCGTAAGTGT 0.443000 12 31 0 0 1 0 0 PHF21B 112885 broad.mit.edu 37 22 45309857 45309857 + Missense_Mutation SNP G G A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr22:45309857G>A ENST00000313237.5 - 5 826 c.676C>T c.(676-678)Cat>Tat p.H226Y PHF21B_ENST00000403565.1_Intron|PHF21B_ENST00000447824.3_Intron|PHF21B_ENST00000404079.2_Intron|PHF21B_ENST00000396103.3_Intron NM_138415.4 NP_612424.1 Q96EK2 PF21B_HUMAN PHD finger protein 21B 226 zinc ion binding breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(14)|ovary(2)|prostate(1)|skin(2) 25 all_neural(38;0.00802)|Glioma(61;0.0353)|Ovarian(80;0.0731) UCEC - Uterine corpus endometrioid carcinoma (28;0.0203) AAGATGCCATggaggggtgaa 0.642000 18 51 0 0 1 0 0 HCLS1 3059 broad.mit.edu 37 3 121351010 121351010 + Missense_Mutation SNP C C A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr3:121351010C>A ENST00000314583.3 - 13 1353 c.1262G>T c.(1261-1263)gGg>gTg p.G421V HCLS1_ENST00000428394.2_Missense_Mutation_p.G384V|HCLS1_ENST00000473883.1_5'UTR NM_005335.4 NP_005326.2 P14317 HCLS1_HUMAN hematopoietic cell-specific Lyn substrate 1 421 erythrocyte differentiation|intracellular signal transduction|positive regulation of cell proliferation|positive regulation of tyrosine phosphorylation of STAT protein|response to hormone stimulus mitochondrion|nucleus|plasma membrane DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 35 GBM - Glioblastoma multiforme(114;0.0912) agccccagccccagccGGGCA 0.542000 20 65 2.89027e-11 2.9527e-11 1 1 0 REG3A 5068 broad.mit.edu 37 2 79384774 79384774 + Missense_Mutation SNP C C T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr2:79384774C>T ENST00000393878.1 - 4 638 c.384G>A c.(382-384)atG>atA p.M128I REG3A_ENST00000409839.3_Missense_Mutation_p.M128I|REG3A_ENST00000305165.2_Missense_Mutation_p.M128I NM_138938.2 NP_620355.1 Q06141 REG3A_HUMAN regenerating islet-derived 3 alpha 128 C-type lectin. acute-phase response|cell proliferation|heterophilic cell-cell adhesion|multicellular organismal development cytoplasm|extracellular space|soluble fraction sugar binding breast(2)|large_intestine(4)|lung(41)|prostate(2)|skin(1) 50 CAAAGTAATTCATCACATCAC 0.547000 19 93 0 0 1 0 0 ANKHD1 54882 broad.mit.edu 37 5 139889228 139889228 + Missense_Mutation SNP C C G TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr5:139889228C>G ENST00000297183.6 + 21 3896 c.3772C>G c.(3772-3774)Ctt>Gtt p.L1258V ANKHD1_ENST00000360839.2_Missense_Mutation_p.L1258V|ANKHD1-EIF4EBP3_ENST00000532219.1_Missense_Mutation_p.L1258V NM_020690.5 NP_065741.3 ankyrin repeat and KH domain containing 1 breast(2)|endometrium(8)|kidney(6)|large_intestine(14)|lung(18)|ovary(5)|prostate(2)|skin(3)|urinary_tract(2) 60 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) ACAGACGGGTCTTACCCCCTT 0.393000 14 61 0 0 1 0 0 PIK3AP1 118788 broad.mit.edu 37 10 98388206 98388206 + Missense_Mutation SNP C C T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr10:98388206C>T ENST00000339364.5 - 9 1539 c.1420G>A c.(1420-1422)Gat>Aat p.D474N PIK3AP1_ENST00000468783.1_5'UTR|PIK3AP1_ENST00000371110.2_Missense_Mutation_p.D296N|PIK3AP1_ENST00000371109.3_Missense_Mutation_p.D73N NM_152309.2 NP_689522.2 Q6ZUJ8 BCAP_HUMAN phosphoinositide-3-kinase adaptor protein 1 474 cytoplasm|plasma membrane NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(27)|ovary(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4) 52 Colorectal(252;0.0442) Epithelial(162;6.29e-08)|all cancers(201;3.18e-06) GAGAAACCATCTCCAGGGATT 0.443000 50 169 0 0 1 0 0 RBM7 10179 broad.mit.edu 37 11 114276477 114276477 + Nonsense_Mutation SNP C C T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr11:114276477C>T ENST00000541475.1 + 4 462 c.397C>T c.(397-399)Cag>Tag p.Q133* RBM7_ENST00000540163.1_Nonsense_Mutation_p.Q132*|RBM7_ENST00000375490.5_Nonsense_Mutation_p.Q133*|RBM7_ENST00000545678.1_Nonsense_Mutation_p.Q12*|RBM7_ENST00000544582.1_Nonsense_Mutation_p.Q132*|RP11-212D19.4_ENST00000544347.1_Silent_p.F129F Q9Y580 RBM7_HUMAN RNA binding motif protein 7 132 meiosis nucleotide binding|protein binding|RNA binding NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 17 all_cancers(61;5.06e-12)|all_epithelial(67;5.3e-06)|all_hematologic(158;7.68e-05)|Acute lymphoblastic leukemia(157;0.000966)|Melanoma(852;0.00153)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)|Breast(348;0.0818)|Prostate(24;0.104) BRCA - Breast invasive adenocarcinoma(274;2.56e-06)|Epithelial(105;4.17e-05)|all cancers(92;0.000348) ACAGATAATTCAGAGATCTTT 0.318000 8 50 0 0 1 0 0 ZNF300P1 134466 broad.mit.edu 37 5 150321863 150321863 + RNA SNP G G A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr5:150321863G>A ENST00000520773.1 - 0 1385 ATCTGGTTTGGAAACTGGATA 0.408000 4 19 0 0 1 0 0 RFX6 222546 broad.mit.edu 37 6 117245850 117245850 + Missense_Mutation SNP G G A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr6:117245850G>A ENST00000332958.2 + 15 1590 c.1574G>A c.(1573-1575)cGa>cAa p.R525Q NM_173560.3 NP_775831.2 Q8HWS3 RFX6_HUMAN regulatory factor X, 6 525 glucose homeostasis|pancreatic A cell differentiation|pancreatic D cell differentiation|pancreatic E cell differentiation|positive regulation of transcription, DNA-dependent|regulation of insulin secretion|transcription, DNA-dependent|type B pancreatic cell differentiation nucleus protein binding|transcription regulatory region DNA binding p.R525Q(1) cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(29)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 59 CATTTGATTCGAATGCTTCTC 0.383000 20 86 0 0 1 0 0 UNC79 57578 broad.mit.edu 37 14 94139696 94139696 + Splice_Site SNP G G A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr14:94139696G>A ENST00000553484.1 + 43 6973 c.e43-1 UNC79_ENST00000393151.2_Splice_Site|UNC79_ENST00000555664.1_Splice_Site|UNC79_ENST00000256339.4_Splice_Site Q9P2D8 UNC79_HUMAN unc-79 homolog (C. elegans) integral to membrane breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4) 118 GTTTTCTTTAGGAACGAGATA 0.358000 24 56 0 0 1 0 0 F13B 2165 broad.mit.edu 37 1 197032094 197032094 + Missense_Mutation SNP T T C TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr1:197032094T>C ENST00000367412.1 - 2 201 c.158A>G c.(157-159)aAa>aGa p.K53R NM_001994.2 NP_001985.2 P05160 F13B_HUMAN coagulation factor XIII, B polypeptide 53 Sushi 1. blood coagulation extracellular region breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(40)|prostate(2)|skin(4)|upper_aerodigestive_tract(3) 66 TGACAATTTTTTGTCTATGCT 0.393000 48 152 0 0 1 0 0 ADAMTS7 11173 broad.mit.edu 37 15 79058878 79058878 + Silent SNP C C A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr15:79058878C>A ENST00000388820.4 - 19 3585 c.3375G>T c.(3373-3375)ctG>ctT p.L1125L NM_014272.3 NP_055087.2 Q9UKP4 ATS7_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 7 1125 proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9) 54 ACCAAGGTCCCAGTACCCCCT 0.687000 4 15 0.150653 0.150653 1 1 0 MEFV 4210 broad.mit.edu 37 16 3293320 3293320 + Missense_Mutation SNP C C T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr16:3293320C>T ENST00000219596.1 - 10 2206 c.2167G>A c.(2167-2169)Gac>Aac p.D723N MEFV_ENST00000536379.1_Missense_Mutation_p.D512N|MEFV_ENST00000339854.4_Missense_Mutation_p.D543N|MEFV_ENST00000541159.1_3'UTR NM_000243.2 NP_000234.1 O15553 MEFV_HUMAN Mediterranean fever 723 B30.2/SPRY. inflammatory response cytoplasm|microtubule|microtubule associated complex|nucleus actin binding|zinc ion binding p.D723N(1) NS(2)|biliary_tract(1)|breast(5)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(3)|prostate(1)|skin(6) 50 Colchicine(DB01394) ACTCTGTAGTCCACGAAGATG 0.517000 29 99 0 0 1 0 0 CASR 846 broad.mit.edu 37 3 121980708 121980708 + Missense_Mutation SNP C C T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr3:121980708C>T ENST00000498619.1 + 4 1264 c.826C>T c.(826-828)Ctt>Ttt p.L276F CASR_ENST00000296154.5_Missense_Mutation_p.L276F|CASR_ENST00000490131.1_Missense_Mutation_p.L276F NM_001178065.1 NP_001171536.1 P41180 CASR_HUMAN calcium-sensing receptor 276 anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification integral to plasma membrane G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 84 GBM - Glioblastoma multiforme(114;0.226) Cinacalcet(DB01012) TGGCCCAGATCTTGAGCCCCT 0.557000 45 113 0 0 1 0 0 LNPEP 4012 broad.mit.edu 37 5 96342189 96342189 + Nonsense_Mutation SNP C C T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr5:96342189C>T ENST00000231368.5 + 11 2697 c.2005C>T c.(2005-2007)Caa>Taa p.Q669* LNPEP_ENST00000395770.3_Nonsense_Mutation_p.Q655* NM_005575.2 NP_005566.2 Q9UIQ6 LCAP_HUMAN leucyl/cystinyl aminopeptidase 669 cell-cell signaling|female pregnancy|proteolysis extracellular region|integral to plasma membrane aminopeptidase activity|metallopeptidase activity|zinc ion binding breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|skin(1)|urinary_tract(1) 34 all_cancers(142;7e-07)|all_epithelial(76;9.52e-10)|all_lung(232;0.00101)|Lung NSC(167;0.00137)|Ovarian(225;0.024)|Colorectal(57;0.0269)|Breast(839;0.244) COAD - Colon adenocarcinoma(37;0.072) TTCAAAATATCAATCGGTATC 0.303000 17 30 0 0 1 0 0 SYT1 6857 broad.mit.edu 37 12 79837979 79837979 + Missense_Mutation SNP A A C TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr12:79837979A>C ENST00000261205.4 + 10 1712 c.1055A>C c.(1054-1056)cAa>cCa p.Q352P SYT1_ENST00000393240.3_Missense_Mutation_p.Q352P|RP1-78O14.1_ENST00000550268.1_lincRNA|SYT1_ENST00000457153.2_Missense_Mutation_p.Q349P|SYT1_ENST00000552744.1_Missense_Mutation_p.Q352P NM_005639.2 NP_005630.1 P21579 SYT1_HUMAN synaptotagmin I 352 C2 2.|Phospholipid binding (Probable). detection of calcium ion|glutamate secretion|neurotransmitter secretion|protein homooligomerization cell junction|chromaffin granule membrane|clathrin sculpted acetylcholine transport vesicle membrane|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|clathrin sculpted glutamate transport vesicle membrane|clathrin sculpted monoamine transport vesicle membrane|endocytic vesicle membrane|integral to membrane|synaptic vesicle membrane 1-phosphatidylinositol binding|low-density lipoprotein particle receptor binding|metal ion binding|syntaxin-1 binding|transporter activity NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|pancreas(2)|skin(6) 25 CCTTTTGAACAAATCCAGGTA 0.358000 35 144 0 0 1 0 0 ZNF646 9726 broad.mit.edu 37 16 31091182 31091182 + Silent SNP G G A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr16:31091182G>A ENST00000394979.2 + 1 3960 c.3537G>A c.(3535-3537)ggG>ggA p.G1179G ZNF646_ENST00000300850.5_Silent_p.G1179G O15015 ZN646_HUMAN zinc finger protein 646 1179 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(1)|lung(21)|ovary(1)|prostate(4)|skin(3) 49 CTGTGAAGGGGGAGGAGATAG 0.592000 3 20 0 0 1 0 0 MED8 112950 broad.mit.edu 37 1 43853204 43853204 + Silent SNP C C G TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr1:43853204C>G ENST00000372457.4 - 3 283 c.240G>C c.(238-240)gtG>gtC p.V80V RP1-92O14.6_ENST00000436713.1_RNA|MED8_ENST00000372455.4_5'UTR|MED8_ENST00000290663.6_Silent_p.V80V NM_001001653.2|NM_201542.3 NP_001001653.1|NP_963836.2 Q96G25 MED8_HUMAN mediator complex subunit 8 80 regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent mediator complex endometrium(2)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1) 9 all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0333) CTGGAGACAACACCAGAGGAA 0.423000 37 28 0 0 1 0 0 COL11A1 1301 broad.mit.edu 37 1 103354185 103354185 + Splice_Site SNP C C T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr1:103354185C>T ENST00000358392.2 - 62 4909 c.4590_splice c.e62-1 p.G1531_splice COL11A1_ENST00000370096.3_Splice_Site_p.G1519_splice|COL11A1_ENST00000512756.1_Splice_Site_p.G1403_splice|COL11A1_ENST00000353414.4_Splice_Site_p.G1480_splice NM_080629.2 NP_542196.2 P12107 COBA1_HUMAN collagen, type XI, alpha 1 1519 Triple-helical region. collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception collagen type XI extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1) 258 all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181) Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248) GCCAGCGGGTCCCTGTTAGAA 0.413000 12 42 0 0 1 0 0 LATS1 9113 broad.mit.edu 37 6 150005421 150005421 + Nonsense_Mutation SNP C C T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr6:150005421C>T ENST00000543571.1 - 4 1351 c.804G>A c.(802-804)tgG>tgA p.W268* LATS1_ENST00000392273.3_Nonsense_Mutation_p.W268*|LATS1_ENST00000542747.1_5'UTR|LATS1_ENST00000253339.5_Nonsense_Mutation_p.W268* NM_004690.3 NP_004681.1 O95835 LATS1_HUMAN large tumor suppressor kinase 1 268 cell division|cytoplasmic sequestering of protein|G2/M transition of mitotic cell cycle|hippo signaling cascade|hormone-mediated signaling pathway|mitosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|positive regulation of peptidyl-serine phosphorylation|regulation of actin filament polymerization|sister chromatid segregation microtubule organizing center|spindle pole ATP binding|magnesium ion binding|protein kinase binding|protein serine/threonine kinase activity central_nervous_system(1)|lung(5) 6 Ovarian(120;0.0164) OV - Ovarian serous cystadenocarcinoma(155;6.93e-13)|GBM - Glioblastoma multiforme(68;0.116) AGTTTGGTTCCCATGAAGGGG 0.547000 53 135 0 0 1 0 0 SRRM2 23524 broad.mit.edu 37 16 2813624 2813624 + Missense_Mutation SNP C C T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr16:2813624C>T ENST00000301740.8 + 11 3644 c.3095C>T c.(3094-3096)tCc>tTc p.S1032F NM_016333.3 NP_057417.3 Q9UQ35 SRRM2_HUMAN serine/arginine repetitive matrix 2 1032 Ser-rich. Cajal body|catalytic step 2 spliceosome|nuclear speck C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7) 105 TGCCCTGGATCCCTCTCTCTC 0.483000 35 109 0 0 1 0 0 TECTA 7007 broad.mit.edu 37 11 120998980 120998980 + Nonsense_Mutation SNP G G A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr11:120998980G>A ENST00000392793.1 + 9 2565 c.2294G>A c.(2293-2295)tGg>tAg p.W765* TECTA_ENST00000264037.2_Nonsense_Mutation_p.W765* O75443 TECTA_HUMAN tectorin alpha 765 VWFD 2. cell-matrix adhesion|sensory perception of sound anchored to membrane|plasma membrane|proteinaceous extracellular matrix TECTA/TBCEL(2) NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1) 135 all_hematologic(175;0.208) Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166) GGACCTGCTTGGCTGCGGGGA 0.592000 19 51 0 0 1 0 0 MSH6 2956 broad.mit.edu 37 2 48023039 48023039 + Missense_Mutation SNP A A G TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr2:48023039A>G ENST00000234420.4 + 3 616 c.464A>G c.(463-465)aAa>aGa p.K155R FBXO11_ENST00000405808.1_Intron|MSH6_ENST00000538136.1_5'UTR|MSH6_ENST00000540021.1_Intron NM_000179.2 NP_000170.1 P52701 MSH6_HUMAN mutS homolog 6 155 determination of adult lifespan|DNA damage response, signal transduction resulting in induction of apoptosis|isotype switching|meiotic mismatch repair|negative regulation of DNA recombination|positive regulation of helicase activity|reciprocal meiotic recombination|response to UV|somatic hypermutation of immunoglobulin genes MutSalpha complex ATP binding|DNA-dependent ATPase activity|protein binding p.0?(2) breast(8)|central_nervous_system(29)|cervix(1)|endometrium(32)|haematopoietic_and_lymphoid_tissue(12)|kidney(2)|large_intestine(75)|lung(25)|ovary(3)|prostate(3)|skin(10)|stomach(22)|thyroid(1)|upper_aerodigestive_tract(1)|urinary_tract(5) 229 Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358) Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151) CTAGGTTCAAAATCAAAGGAA 0.438000 """Mis, N, F, S""" colorectal """colorectal, endometrial, ovarian""" Mismatch excision repair (MMR) Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome 6 44 0 0 1 0 0 GIMAP8 155038 broad.mit.edu 37 7 150164323 150164323 + Silent SNP C C T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr7:150164323C>T ENST00000307271.3 + 2 1111 c.537C>T c.(535-537)atC>atT p.I179I NM_175571.2 NP_783161.1 Q8ND71 GIMA8_HUMAN GTPase, IMAP family member 8 179 endoplasmic reticulum|Golgi apparatus|mitochondrion GTP binding breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(26)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1) 62 OV - Ovarian serous cystadenocarcinoma(82;0.0218) UCEC - Uterine corpus endometrioid carcinoma (81;0.17) ATGAGCAGATCACCCAGGTGT 0.438000 45 107 0 0 1 0 0 SPATA31E1 286234 broad.mit.edu 37 9 90502089 90502089 + Missense_Mutation SNP G G A rs139269965 TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr9:90502089G>A ENST00000325643.5 + 4 2753 c.2687G>A c.(2686-2688)gGa>gAa p.G896E NM_178828.4 NP_849150.3 SPATA31 subfamily E, member 1 ATTTTCCTGGGAAAACGTCCT 0.597000 20 34 0 0 1 0 0 WIPF3 644150 broad.mit.edu 37 7 29918687 29918687 + Missense_Mutation SNP C C T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr7:29918687C>T ENST00000409290.1 + 3 286 c.286C>T c.(286-288)Ccc>Tcc p.P96S WIPF3_ENST00000409123.1_Missense_Mutation_p.P96S|WIPF3_ENST00000242140.5_Missense_Mutation_p.P96S NM_001080529.2 NP_001073998.2 B8ZZV2 B8ZZV2_HUMAN WAS/WASL interacting protein family, member 3 96 breast(2)|large_intestine(3)|lung(6)|ovary(1) 12 GAGCACACCTCCCACCCTGGG 0.517000 10 17 0 0 1 0 0 PAX6 5080 broad.mit.edu 37 11 31816322 31816322 + Missense_Mutation SNP G G T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr11:31816322G>T ENST00000419022.1 - 9 1048 c.580C>A c.(580-582)Cag>Aag p.Q194K PAX6_ENST00000379129.2_Missense_Mutation_p.Q194K|PAX6_ENST00000379123.5_Missense_Mutation_p.Q180K|PAX6_ENST00000379132.3_Missense_Mutation_p.Q180K|PAX6_ENST00000379111.2_Missense_Mutation_p.Q180K|PAX6_ENST00000379115.4_Missense_Mutation_p.Q194K|PAX6_ENST00000241001.8_Missense_Mutation_p.Q180K|PAX6_ENST00000379107.2_Missense_Mutation_p.Q194K NM_001127612.1|NM_001258462.1|NM_001258463.1 NP_001121084.1|NP_001245391.1|NP_001245392.1 P26367 PAX6_HUMAN paired box 6 180 Gln/Gly-rich. blood vessel development|central nervous system development|cornea development in camera-type eye|glucose homeostasis|iris morphogenesis|negative regulation of neurogenesis|neuron fate commitment|pancreatic A cell development|positive regulation of transcription, DNA-dependent|response to wounding|visual perception cytoplasm|nuclear chromatin R-SMAD binding|RNA polymerase II core promoter sequence-specific DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity|ubiquitin-protein ligase activity central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(2) 35 Lung SC(675;0.225) CCTCCTTCCTGTTGCTGGCAG 0.468000 Wilms' tumor-Aniridia-ambiguous Genitals-mental Retardation 18 84 7.07596e-05 7.13811e-05 1 1 0 SLCO4C1 353189 broad.mit.edu 37 5 101606459 101606459 + Missense_Mutation SNP G G A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr5:101606459G>A ENST00000310954.6 - 3 957 c.671C>T c.(670-672)tCa>tTa p.S224L NM_180991.4 NP_851322.3 Q6ZQN7 SO4C1_HUMAN solute carrier organic anion transporter family, member 4C1 224 cell differentiation|multicellular organismal development|sodium-independent organic anion transport|spermatogenesis basolateral plasma membrane|integral to membrane sodium-independent organic anion transmembrane transporter activity breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(5) 50 all_cancers(142;1.86e-08)|all_epithelial(76;5.24e-12)|Prostate(80;0.00124)|Colorectal(57;0.00332)|Ovarian(225;0.024)|Lung NSC(167;0.0402)|all_lung(232;0.0486) Epithelial(69;4.07e-14)|COAD - Colon adenocarcinoma(37;0.00986) GTTAGAAAGTGAAGAAGTTGA 0.363000 20 34 0 0 1 0 0 TMED3 23423 broad.mit.edu 37 15 79614547 79614547 + Silent SNP C C T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr15:79614547C>T ENST00000299705.5 + 3 833 c.645C>T c.(643-645)gtC>gtT p.V215V TMED3_ENST00000424155.2_Intron|TMED3_ENST00000536821.1_Intron|TMED3_ENST00000558562.1_3'UTR NM_007364.2 NP_031390.1 Q9Y3Q3 TMED3_HUMAN transmembrane emp24 protein transport domain containing 3 215 protein transport ER-Golgi intermediate compartment membrane|Golgi apparatus|integral to membrane large_intestine(3)|lung(4)|ovary(1)|skin(1) 9 GCAGGGCAGTCCACTCCTAGC 0.607000 14 76 0 0 1 0 0 MYO18B 84700 broad.mit.edu 37 22 26164846 26164846 + Silent SNP C C T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr22:26164846C>T ENST00000335473.7 + 4 1213 c.963C>T c.(961-963)ttC>ttT p.F321F MYO18B_ENST00000536101.1_Silent_p.F321F|MYO18B_ENST00000407587.2_Silent_p.F321F NM_032608.5 NP_115997.5 Q8IUG5 MY18B_HUMAN myosin XVIIIB 321 nucleus|sarcomere|unconventional myosin complex actin binding|ATP binding|motor activity NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2) 146 GGGGAGGTTTCCTGGGAAGAA 0.532000 4 20 0 0 1 0 0 KCNQ5 56479 broad.mit.edu 37 6 73904250 73904250 + Missense_Mutation SNP G G A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr6:73904250G>A ENST00000342056.2 + 15 2367 c.1969G>A c.(1969-1971)Gcc>Acc p.A657T KCNQ5_ENST00000414165.2_Missense_Mutation_p.A528T|KCNQ5_ENST00000403813.2_Missense_Mutation_p.A629T|KCNQ5_ENST00000402622.2_Missense_Mutation_p.A648T|KCNQ5_ENST00000370398.1_Missense_Mutation_p.A638T|KCNQ5_ENST00000355635.3_Missense_Mutation_p.A639T|KCNQ5_ENST00000355194.4_Missense_Mutation_p.A638T NM_001160132.1|NM_001160133.1 NP_001153604.1|NP_001153605.1 Q9NR82 KCNQ5_HUMAN potassium voltage-gated channel, KQT-like subfamily, member 5 638 protein complex assembly|synaptic transmission voltage-gated potassium channel complex inward rectifier potassium channel activity breast(1)|cervix(1)|endometrium(6)|kidney(7)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 57 all_epithelial(107;0.116)|Lung NSC(302;0.219) COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583) CTCTGCCTCAGCCCTCGCTTT 0.478000 15 60 0 0 1 0 0 SRCAP 10847 broad.mit.edu 37 16 30740292 30740292 + Silent SNP C C T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr16:30740292C>T ENST00000262518.4 + 26 6049 c.5664C>T c.(5662-5664)tcC>tcT p.S1888S SRCAP_ENST00000395059.2_Silent_p.S1826S|SRCAP_ENST00000344771.4_Silent_p.S1730S NM_006662.2 NP_006653.2 Q6ZRS2 SRCAP_HUMAN Snf2-related CREBBP activator protein 1888 interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent Golgi apparatus|nucleus|protein complex ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5) 136 Colorectal(24;0.198) CCCAGGACTCCCTGGAGGAAA 0.507000 18 104 0 0 1 0 0 SPEF2 79925 broad.mit.edu 37 5 35727852 35727852 + Missense_Mutation SNP C C T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr5:35727852C>T ENST00000440995.2 + 21 2975 c.2975C>T c.(2974-2976)cCt>cTt p.P992L SPEF2_ENST00000356031.3_Missense_Mutation_p.P997L|CTD-2113L7.1_ENST00000510433.1_RNA Q9C093 SPEF2_HUMAN sperm flagellar 2 997 nucleobase, nucleoside, nucleotide and nucleic acid metabolic process ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 37 all_lung(31;7.56e-05) Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) GATACATCACCTGTTGCAATA 0.418000 25 92 0 0 1 0 0 DMBT1 1755 broad.mit.edu 37 10 124380618 124380618 + Missense_Mutation SNP G G A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr10:124380618G>A ENST00000368909.3 + 41 5049 c.4943G>A c.(4942-4944)aGg>aAg p.R1648K DMBT1_ENST00000368956.2_Missense_Mutation_p.R1020K|DMBT1_ENST00000368955.3_Missense_Mutation_p.R1638K|DMBT1_ENST00000359586.6_Intron|DMBT1_ENST00000344338.3_Missense_Mutation_p.R1638K|DMBT1_ENST00000330163.4_Missense_Mutation_p.R1020K|DMBT1_ENST00000338354.3_Missense_Mutation_p.R1648K NM_007329.2 NP_015568.2 Q9UGM3 DMBT1_HUMAN deleted in malignant brain tumors 1 1648 SRCR 13. epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3) 72 all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238) GGAGGTGACAGGTGTCGAGGC 0.532000 96 279 0 0 1 0 0 HSPA2 3306 broad.mit.edu 37 14 65009365 65009365 + Missense_Mutation SNP A A G TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr14:65009365A>G ENST00000247207.6 + 1 2180 c.1798A>G c.(1798-1800)Aaa>Gaa p.K600E HSPA2_ENST00000394709.1_Missense_Mutation_p.K600E NM_021979.3 NP_068814.2 P54652 HSP72_HUMAN heat shock 70kDa protein 2 600 response to unfolded protein|spermatid development cell surface ATP binding|unfolded protein binding breast(1)|endometrium(4)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 22 all cancers(60;0.00515)|OV - Ovarian serous cystadenocarcinoma(108;0.00584)|BRCA - Breast invasive adenocarcinoma(234;0.045) ACACAAGCAGAAAGAGCTCGA 0.557000 21 59 0 0 1 0 0 LHCGR 3973 broad.mit.edu 37 2 48936112 48936112 + Missense_Mutation SNP G G A rs149917479 TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr2:48936112G>A ENST00000294954.7 - 8 676 c.655C>T c.(655-657)Cgt>Tgt p.R219C STON1-GTF2A1L_ENST00000402114.2_Intron|LHCGR_ENST00000401907.1_Missense_Mutation_p.R219C|LHCGR_ENST00000405626.1_Missense_Mutation_p.R219C|LHCGR_ENST00000403273.1_Missense_Mutation_p.R219C|LHCGR_ENST00000344775.3_Missense_Mutation_p.R219C NM_000233.3 NP_000224.2 P22888 LSHR_HUMAN luteinizing hormone/choriogonadotropin receptor 219 male genitalia development|male gonad development endosome|integral to plasma membrane luteinizing hormone receptor activity NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(23)|ovary(3)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2) 56 all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176) Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151) Cetrorelix(DB00050)|Choriogonadotropin alfa(DB00097)|Goserelin(DB00014)|Lutropin alfa(DB00044)|Menotropins(DB00032) GTGGCCCCACGGAAGGCTCCA 0.542000 30 114 0 0 1 0 0 NLRP8 126205 broad.mit.edu 37 19 56481962 56481962 + Missense_Mutation SNP C C T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr19:56481962C>T ENST00000291971.3 + 6 2505 c.2434C>T c.(2434-2436)Ctt>Ttt p.L812F NLRP8_ENST00000590542.1_Missense_Mutation_p.L812F NM_176811.2 NP_789781.2 Q86W28 NALP8_HUMAN NLR family, pyrin domain containing 8 812 cytoplasm ATP binding breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2) 35 Colorectal(82;0.000147)|Ovarian(87;0.17) GBM - Glioblastoma multiforme(193;0.0695) TGGCAATAATCTTCAAGGTAA 0.488000 54 144 0 0 1 0 0 CECR1 51816 broad.mit.edu 37 22 17690307 17690307 + Silent SNP G G A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr22:17690307G>A ENST00000399839.1 - 2 531 c.261C>T c.(259-261)ttC>ttT p.F87F CECR1_ENST00000262607.3_Silent_p.F87F|CECR1_ENST00000399837.2_Silent_p.F87F|CECR1_ENST00000449907.2_Silent_p.F45F Q9NZK5 CECR1_HUMAN cat eye syndrome chromosome region, candidate 1 87 Dimerization. adenosine catabolic process|hypoxanthine salvage|inosine biosynthetic process|multicellular organismal development|purine ribonucleoside monophosphate biosynthetic process extracellular space|Golgi apparatus adenosine deaminase activity|adenosine receptor binding|growth factor activity|heparin binding|protein homodimerization activity|proteoglycan binding|zinc ion binding endometrium(1)|kidney(2)|large_intestine(6)|liver(1)|lung(10)|ovary(2)|prostate(2)|stomach(1) 25 all_epithelial(15;0.0152)|Lung NSC(13;0.0875)|all_lung(157;0.106) GCTTGGCCTGGAAAAAGTGCA 0.502000 9 46 0 0 1 0 0 SYT16 83851 broad.mit.edu 37 14 62551076 62551076 + Nonsense_Mutation SNP C C T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr14:62551076C>T ENST00000430451.2 + 5 1794 c.1597C>T c.(1597-1599)Cga>Tga p.R533* NM_031914.2 NP_114120.2 Q17RD7 SYT16_HUMAN synaptotagmin XVI 533 C2 2. central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 35 OV - Ovarian serous cystadenocarcinoma(108;0.0438)|BRCA - Breast invasive adenocarcinoma(234;0.118) CAGCCATTTCCGAAACCTCGC 0.537000 10 47 0 0 1 0 0 DNAJC13 23317 broad.mit.edu 37 3 132241685 132241685 + Missense_Mutation SNP T T C TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr3:132241685T>C ENST00000260818.6 + 49 5935 c.5687T>C c.(5686-5688)tTa>tCa p.L1896S NM_015268.3 NP_056083.3 O75165 DJC13_HUMAN DnaJ (Hsp40) homolog, subfamily C, member 13 1896 heat shock protein binding breast(4)|endometrium(2)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|urinary_tract(1) 34 CGAATTACGTTAATGAAATTT 0.328000 8 35 0 0 1 0 0 COL21A1 81578 broad.mit.edu 37 6 55933887 55933887 + Missense_Mutation SNP C C T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr6:55933887C>T ENST00000244728.5 - 22 2445 c.2048G>A c.(2047-2049)gGa>gAa p.G683E COL21A1_ENST00000467045.1_5'UTR|COL21A1_ENST00000370819.1_Missense_Mutation_p.G680E|COL21A1_ENST00000535941.1_Missense_Mutation_p.G683E|COL21A1_ENST00000370808.2_Missense_Mutation_p.G83E NM_030820.3 NP_110447.2 Q96P44 COLA1_HUMAN collagen, type XXI, alpha 1 683 Collagen-like 4. cell adhesion collagen|cytoplasm structural molecule activity breast(1)|endometrium(1)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|prostate(2) 41 Lung NSC(77;0.0483) LUSC - Lung squamous cell carcinoma(124;0.181) TCCTGGTTCTCCTGGGGAACC 0.418000 4 15 0 0 1 0 0 LECT2 3950 broad.mit.edu 37 5 135286927 135286927 + Nonsense_Mutation SNP G G A rs138618187 TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr5:135286927G>A ENST00000274507.1 - 3 474 c.274C>T c.(274-276)Cga>Tga p.R92* LECT2_ENST00000522943.1_Nonsense_Mutation_p.R92*|LECT2_ENST00000514447.2_Nonsense_Mutation_p.R92*|LECT2_ENST00000471827.1_5'UTR|FBXL21_ENST00000467490.1_RNA|LECT2_ENST00000512872.1_Nonsense_Mutation_p.R20* NM_002302.2 NP_002293.2 O14960 LECT2_HUMAN leukocyte cell-derived chemotaxin 2 92 chemotaxis|skeletal system development cytoplasm|extracellular space large_intestine(1)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 4 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233) CCAGATATTCGAACACCATTA 0.443000 17 39 0 0 1 0 0 OR3A4P 390756 broad.mit.edu 37 17 3214341 3214341 + RNA SNP C C T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr17:3214341C>T ENST00000573491.1 - 0 359 OR3A4P_ENST00000323164.4_RNA ACGTGTAGTTCCCACCTCACT 0.567000 30 73 0 0 1 0 0 CES4A 283848 broad.mit.edu 37 16 67038069 67038069 + Missense_Mutation SNP C C T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr16:67038069C>T ENST00000540947.2 + 9 1206 c.1022C>T c.(1021-1023)tCa>tTa p.S341L CES4A_ENST00000540579.1_Missense_Mutation_p.S243L|CES4A_ENST00000338718.4_Missense_Mutation_p.S364L|CES4A_ENST00000541479.1_Missense_Mutation_p.S364L|CES4A_ENST00000326686.5_Missense_Mutation_p.S341L|CES4A_ENST00000398354.1_Missense_Mutation_p.S341L|CES4A_ENST00000535696.1_Missense_Mutation_p.S247L NM_173815.6 NP_776176.5 Q5XG92 EST4A_HUMAN carboxylesterase 4A 341 extracellular region carboxylesterase activity large_intestine(2)|liver(2)|lung(4)|ovary(1) 9 GGGAAGGTTTCATCTGTGCCC 0.493000 34 111 0 0 1 0 0 MAPK6 5597 broad.mit.edu 37 15 52356225 52356225 + Silent SNP C C T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr15:52356225C>T ENST00000261845.5 + 6 2001 c.1194C>T c.(1192-1194)ccC>ccT p.P398P CTD-2184D3.5_ENST00000558607.1_RNA NM_002748.3 NP_002739.1 Q16659 MK06_HUMAN mitogen-activated protein kinase 6 398 cell cycle ATP binding|MAP kinase activity breast(3)|endometrium(1)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|skin(2) 20 all cancers(107;0.0028) AAGTTGATCCCCGAAAATATT 0.408000 29 76 0 0 1 0 0 RDH8 50700 broad.mit.edu 37 19 10124162 10124162 + Missense_Mutation SNP G G A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr19:10124162G>A ENST00000591589.1 + 1 238 c.49G>A c.(49-51)Gag>Aag p.E17K RDH8_ENST00000171214.1_5'UTR Q9NYR8 RDH8_HUMAN retinol dehydrogenase 8 (all-trans) 0 estrogen biosynthetic process|response to stimulus|visual perception cytoplasm|integral to plasma membrane binding|estradiol 17-beta-dehydrogenase activity|NADP-retinol dehydrogenase activity|retinol dehydrogenase activity endometrium(3)|large_intestine(3)|lung(10)|ovary(3)|pancreas(1)|prostate(1) 21 Epithelial(33;4.24e-05) Vitamin A(DB00162) CGAGTCCAGGGAGGGGATCAA 0.617000 16 60 0 0 1 0 0 ATP12A 479 broad.mit.edu 37 13 25275033 25275033 + Silent SNP C C T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr13:25275033C>T ENST00000218548.6 + 13 2205 c.1872C>T c.(1870-1872)gtC>gtT p.V624V ATP12A_ENST00000381946.3_Silent_p.V618V NM_001185085.1|NM_001676.5 NP_001172014.1|NP_001667.4 P54707 AT12A_HUMAN ATPase, H+/K+ transporting, nongastric, alpha polypeptide 618 ATP biosynthetic process hydrogen:potassium-exchanging ATPase complex ATP binding|hydrogen:potassium-exchanging ATPase activity|metal ion binding breast(6)|central_nervous_system(4)|endometrium(3)|kidney(5)|large_intestine(23)|lung(23)|ovary(2)|pancreas(1)|prostate(2)|skin(5) 74 Lung SC(185;0.0225)|Breast(139;0.077) all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228) Esomeprazole(DB00736)|Pantoprazole(DB00213) CAGATGCAGTCACCAAATGCC 0.463000 14 58 0 0 1 0 0 MGA 23269 broad.mit.edu 37 15 42035012 42035012 + Silent SNP T T A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr15:42035012T>A ENST00000219905.7 + 15 5035 c.4854T>A c.(4852-4854)atT>atA p.I1618I MGA_ENST00000389936.4_Silent_p.I1618I|MGA_ENST00000570161.1_Silent_p.I1618I|MGA_ENST00000545763.1_Intron|MGA_ENST00000566586.1_Intron NM_001164273.1 NP_001157745.1 Q8IWI9 MGAP_HUMAN MGA, MAX dimerization protein 1618 Thr-rich. MLL1 complex DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 95 all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238) OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235) TGACTGCTATTTCTGACGTGG 0.453000 20 90 0 0 1 0 0 RSF1 51773 broad.mit.edu 37 11 77451873 77451873 + Missense_Mutation SNP G G A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr11:77451873G>A ENST00000308488.6 - 4 783 c.481C>T c.(481-483)Ctc>Ttc p.L161F RSF1_ENST00000360355.2_Missense_Mutation_p.L130F Q96T23 RSF1_HUMAN remodeling and spacing factor 1 161 CenH3-containing nucleosome assembly at centromere|negative regulation of DNA binding|negative regulation of transcription, DNA-dependent|nucleosome positioning|positive regulation of transcription, DNA-dependent|positive regulation of viral transcription|transcription initiation, DNA-dependent RSF complex histone binding|protein binding|zinc ion binding breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(9)|lung(14)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 43 all_cancers(14;1.54e-17)|all_epithelial(13;4.06e-20)|Ovarian(111;0.152) Epithelial(5;3e-50)|all cancers(3;6.37e-47)|BRCA - Breast invasive adenocarcinoma(5;9.82e-31) CAGTACATGAGGCCATCTTTG 0.398000 20 65 0 0 1 0 0 SLC22A17 51310 broad.mit.edu 37 14 23817419 23817419 + Silent SNP G G A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr14:23817419G>A ENST00000354772.3 - 6 1292 c.789C>T c.(787-789)aaC>aaT p.N263N SLC22A17_ENST00000474057.1_5'UTR|SLC22A17_ENST00000397267.1_Silent_p.N263N|SLC22A17_ENST00000206544.8_Silent_p.N263N|SLC22A17_ENST00000397260.3_Silent_p.N152N NM_016609.3 NP_057693.3 Q8WUG5 S22AH_HUMAN solute carrier family 22, member 17 263 siderophore transport integral to organelle membrane|integral to plasma membrane|vacuolar membrane transmembrane receptor activity|transmembrane transporter activity breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 15 all_cancers(95;7.12e-06) GBM - Glioblastoma multiforme(265;0.00643) CATGGGGCCGGTTTCGCTCAG 0.612000 19 71 0 0 1 0 0 ZPLD1 131368 broad.mit.edu 37 3 102153961 102153961 + Translation_Start_Site SNP G G A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr3:102153961G>A ENST00000466937.1 + 0 85 ZPLD1_ENST00000306176.1_Start_Codon_SNP_p.M1I|ZPLD1_ENST00000491959.1_Intron Q8TCW7 ZPLD1_HUMAN zona pellucida-like domain containing 1 integral to membrane central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(18)|ovary(2)|skin(3) 35 ATGGCAAGATGATGCTCAGGT 0.383000 17 62 0 0 1 0 0 LDLRAD4 753 broad.mit.edu 37 18 13621218 13621218 + Missense_Mutation SNP C C T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr18:13621218C>T ENST00000361205.4 + 5 952 c.284C>T c.(283-285)tCc>tTc p.S95F LDLRAD4_ENST00000399848.3_Missense_Mutation_p.S95F|LDLRAD4_ENST00000359446.5_Missense_Mutation_p.S95F|LDLRAD4_ENST00000585931.1_Missense_Mutation_p.S18F|LDLRAD4_ENST00000587757.1_Missense_Mutation_p.S58F|LDLRAD4_ENST00000586765.1_Missense_Mutation_p.S58F NM_001276249.1|NM_181481.3 NP_001263178.1|NP_852146.1 low density lipoprotein receptor class A domain containing 4 TCCACGCGGTCCTTCATCAAC 0.632000 13 69 0 0 1 0 0 LAMA3 3909 broad.mit.edu 37 18 21501018 21501018 + Splice_Site SNP G G A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr18:21501018G>A ENST00000313654.9 + 61 8284 c.8043_splice c.e61+1 p.S2681_splice LAMA3_ENST00000588770.1_3'UTR|LAMA3_ENST00000587184.1_Splice_Site_p.S1016_splice|LAMA3_ENST00000399516.3_Splice_Site_p.S2625_splice|LAMA3_ENST00000269217.6_Splice_Site_p.S1072_splice NM_198129.1 NP_937762.1 Q16787 LAMA3_HUMAN laminin, alpha 3 2681 Laminin G-like 2. 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) GAGACCATTCGGTACACCTTT 0.383000 13 34 0 0 1 0 0 PRKG1 5592 broad.mit.edu 37 10 54050045 54050045 + Missense_Mutation SNP C C T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr10:54050045C>T ENST00000373980.4 + 17 2374 c.1957C>T c.(1957-1959)Cca>Tca p.P653S PRKG1_ENST00000373985.1_Missense_Mutation_p.P626S|PRKG1-AS1_ENST00000426785.2_RNA|PRKG1_ENST00000373975.2_Missense_Mutation_p.P356S|PRKG1-AS1_ENST00000452247.2_RNA|PRKG1_ENST00000401604.2_Missense_Mutation_p.P638S NM_006258.3 NP_006249.1 Q13976 KGP1_HUMAN protein kinase, cGMP-dependent, type I 638 AGC-kinase C-terminal. actin cytoskeleton organization|platelet activation|signal transduction cytosol ATP binding|cGMP binding|cGMP-dependent protein kinase activity autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2) 53 all_cancers(4;2.13e-08)|all_epithelial(4;2.44e-08)|all_lung(4;0.000173) all cancers(4;1.18e-05)|GBM - Glioblastoma multiforme(4;0.000359)|Epithelial(53;0.00532)|Lung(62;0.0606) TCCTATAATACCAAGTGTAAG 0.333000 27 88 0 0 1 0 0 SRCAP 10847 broad.mit.edu 37 16 30740291 30740291 + Missense_Mutation SNP C C T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr16:30740291C>T ENST00000262518.4 + 26 6048 c.5663C>T c.(5662-5664)tCc>tTc p.S1888F SRCAP_ENST00000395059.2_Missense_Mutation_p.S1826F|SRCAP_ENST00000344771.4_Missense_Mutation_p.S1730F NM_006662.2 NP_006653.2 Q6ZRS2 SRCAP_HUMAN Snf2-related CREBBP activator protein 1888 interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent Golgi apparatus|nucleus|protein complex ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5) 136 Colorectal(24;0.198) CCCCAGGACTCCCTGGAGGAA 0.507000 18 101 0 0 1 0 0 SLIT3 6586 broad.mit.edu 37 5 168123363 168123363 + Missense_Mutation SNP C C T rs142215582 byFrequency TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr5:168123363C>T ENST00000519560.1 - 28 3435 c.3016G>A c.(3016-3018)Gaa>Aaa p.E1006K SLIT3_ENST00000404867.3_Missense_Mutation_p.E1006K|SLIT3_ENST00000332966.8_Missense_Mutation_p.E1013K NM_001271946.1|NM_003062.2 NP_001258875.1|NP_003053.1 O75094 SLIT3_HUMAN slit homolog 3 (Drosophila) 1006 EGF-like 3. apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus|Roundabout signaling pathway extracellular space|mitochondrion calcium ion binding|Roundabout binding endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1) 100 Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392) Medulloblastoma(196;0.0399)|all_neural(177;0.0966) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) GCATTGTTTTCGCAGTCGTTG 0.547000 18 92 0 0 1 0 0 POTEE 445582 broad.mit.edu 37 2 131976362 131976362 + Missense_Mutation SNP G G A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr2:131976362G>A ENST00000356920.5 + 1 481 c.387G>A c.(385-387)atG>atA p.M129I PLEKHB2_ENST00000404460.1_Intron|POTEE_ENST00000358087.5_Missense_Mutation_p.M129I|PLEKHB2_ENST00000303908.3_Intron NM_001083538.1 NP_001077007.1 Q6S8J3 POTEE_HUMAN POTE ankyrin domain family, member E 129 ATP binding GCGCCTTCATGGAGCCCAGGT 0.602000 20 107 0 0 1 0 0 FAM188B 84182 broad.mit.edu 37 7 30831093 30831093 + Missense_Mutation SNP C C A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr7:30831093C>A ENST00000265299.6 + 5 1053 c.976C>A c.(976-978)Ccc>Acc p.P326T INMT-FAM188B_ENST00000458257.1_3'UTR NM_032222.2 NP_115598.2 Q4G0A6 F188B_HUMAN family with sequence similarity 188, member B 326 endometrium(1)|large_intestine(5)|lung(19)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 GGACAGGATGCCCTTGAAGCT 0.637000 13 29 2.27111e-07 2.30261e-07 1 1 0 MAGEB16 139604 broad.mit.edu 37 X 35820590 35820590 + Missense_Mutation SNP G G A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chrX:35820590G>A ENST00000399989.1 + 2 556 c.277G>A c.(277-279)Gaa>Aaa p.E93K MAGEB16_ENST00000399988.1_Missense_Mutation_p.E93K|MAGEB16_ENST00000399985.1_Missense_Mutation_p.E93K|MAGEB16_ENST00000399992.1_Missense_Mutation_p.E125K|MAGEB16_ENST00000399987.1_Missense_Mutation_p.E93K NM_001099921.1 NP_001093391.1 A2A368 MAGBG_HUMAN melanoma antigen family B, 16 93 breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(16)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 31 TCAAGAAGAGGAAGATAGTCC 0.493000 10 11 0 0 1 0 0 CLCNKB 1188 broad.mit.edu 37 1 16378205 16378205 + Splice_Site SNP G G A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr1:16378205G>A ENST00000375679.4 + 14 1409 c.1297_splice c.e14-1 p.G433_splice CLCNKB_ENST00000375667.3_Splice_Site_p.G264_splice NM_000085.4 NP_000076.2 chloride channel, voltage-sensitive Kb breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)|skin(6)|stomach(2)|urinary_tract(1) 21 Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649) CTGTGGCCAGGAGCTGCTATC 0.622000 35 94 0 0 1 0 0 STXBP5L 9515 broad.mit.edu 37 3 121137202 121137202 + Missense_Mutation SNP G G A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr3:121137202G>A ENST00000273666.6 + 27 3588 c.3317G>A c.(3316-3318)gGa>gAa p.G1106E STXBP5L_ENST00000471454.1_Missense_Mutation_p.G1082E NM_014980.2 NP_055795.1 Q9Y2K9 STB5L_HUMAN syntaxin binding protein 5-like 1106 exocytosis|protein transport cytoplasm|integral to membrane|plasma membrane NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 68 GBM - Glioblastoma multiforme(114;0.0694) GCTTCGGCAGGAAAAGCATCC 0.473000 5 36 0 0 1 0 0 MAATS1 89876 broad.mit.edu 37 3 119445028 119445028 + Silent SNP C C T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr3:119445028C>T ENST00000273390.5 + 7 770 c.693C>T c.(691-693)ctC>ctT p.L231L NM_033364.3 NP_203528.2 MYCBP-associated, testis expressed 1 GTCGGGGTCTCCCAGCAGGAC 0.547000 5 21 0 0 1 0 0 OR2T35 403244 broad.mit.edu 37 1 248801602 248801603 + Frame_Shift_Ins INS - - CA TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr1:248801602_248801603insCA ENST00000317450.3 - 1 956_957 c.957_958insTG c.(955-960)gttcagfs p.Q320fs NM_001001827.1 NP_001001827.1 Q8NGX2 O2T35_HUMAN olfactory receptor, family 2, subfamily T, member 35 320 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.I320fs*1(1) endometrium(1)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)|skin(1) 6 all_cancers(71;2.04e-05)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) all_cancers(173;0.237) OV - Ovarian serous cystadenocarcinoma(106;0.0265) CCCTTCCTGATCACAGTCGCCA 0.545 3 4 --- --- --- --- IDO2 169355 broad.mit.edu 37 8 39847305 39847306 + Frame_Shift_Del DEL GC GC - TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr8:39847305_39847306delGC ENST00000502986.2 + 8 896_897 c.654_655delGC c.(652-657)cagafs p.QR218fs IDO2_ENST00000389060.4_Frame_Shift_Del_p.QR205fs|RP11-44K6.3_ENST00000517623.1_RNA|IDO2_ENST00000343295.4_3'UTR NM_194294.2 NP_919270.2 Q6ZQW0 I23O2_HUMAN indoleamine 2,3-dioxygenase 2 205 tryptophan catabolic process to kynurenine cytosol heme binding|indoleamine 2,3-dioxygenase activity|tryptophan 2,3-dioxygenase activity breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(6)|ovary(2)|upper_aerodigestive_tract(1) 18 AAGCCCTGCAGCGACTGAGACT 0.535 OREG0018729 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 10 14 --- --- --- --- CACNA1C 775 broad.mit.edu 37 12 2778120 2778127 + Frame_Shift_Del DEL CCTCTGAA CCTCTGAA - TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr12:2778120_2778127delCCTCTGAA ENST00000399655.1 + 38 4910_4917 c.4645_4652delCCTCTGAA c.(4645-4653)cfs p.PLN1549fs CACNA1C_ENST00000399634.1_Frame_Shift_Del_p.PLN1549fs|CACNA1C_ENST00000399591.1_Frame_Shift_Del_p.PLN1538fs|CACNA1C_ENST00000327702.7_Frame_Shift_Del_p.PLN1549fs|CACNA1C_ENST00000399649.1_Frame_Shift_Del_p.PLN1536fs|CACNA1C_ENST00000406454.3_Frame_Shift_Del_p.PLN1549fs|CACNA1C_ENST00000399638.1_Frame_Shift_Del_p.PLN1577fs|CACNA1C_ENST00000399629.1_Frame_Shift_Del_p.PLN1566fs|CACNA1C_ENST00000399595.1_Frame_Shift_Del_p.PLN1538fs|CACNA1C_ENST00000399641.1_Frame_Shift_Del_p.PLN1549fs|CACNA1C_ENST00000399606.1_Frame_Shift_Del_p.PLN1569fs|CACNA1C_ENST00000344100.3_Frame_Shift_Del_p.PLN1571fs|CACNA1C_ENST00000399617.1_Frame_Shift_Del_p.PLN1549fs|CACNA1C_ENST00000399621.1_Frame_Shift_Del_p.PLN1549fs|CACNA1C_ENST00000399601.1_Frame_Shift_Del_p.PLN1549fs|CACNA1C_ENST00000399597.1_Frame_Shift_Del_p.PLN1549fs|CACNA1C_ENST00000399644.1_Frame_Shift_Del_p.PLN1549fs|CACNA1C_ENST00000402845.3_Frame_Shift_Del_p.PLN1549fs|CACNA1C_ENST00000399637.1_Frame_Shift_Del_p.PLN1549fs|CACNA1C_ENST00000347598.4_Frame_Shift_Del_p.PLN1597fs|CACNA1C-AS2_ENST00000545526.1_RNA|CACNA1C_ENST00000335762.5_Frame_Shift_Del_p.PLN1574fs|CACNA1C_ENST00000399603.1_Frame_Shift_Del_p.PLN1549fs NM_000719.6|NM_001129829.1|NM_001129834.1 NP_000710.5|NP_001123301.1|NP_001123306.1 Q13936 CAC1C_HUMAN calcium channel, voltage-dependent, L type, alpha 1C subunit 1597 axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion cytoplasm|postsynaptic density|voltage-gated calcium channel complex calmodulin binding|voltage-gated calcium channel activity NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4) 132 OV - Ovarian serous cystadenocarcinoma(31;0.00256) LUAD - Lung adenocarcinoma(1;0.134) Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661) CATGAACATGCCTCTGAACAGCGACGGG 0.587 18 120 --- --- --- --- UNG 7374 broad.mit.edu 37 12 109536377 109536378 + Frame_Shift_Ins INS - - GT TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr12:109536377_109536378insGT ENST00000336865.2 + 1 455_456 c.246_247insGT c.(244-249)cctgggfs p.G83fs UNG_ENST00000242576.2_Frame_Shift_Ins_p.G92fs NM_003362.3 NP_003353.1 P13051 UNG_HUMAN uracil-DNA glycosylase 92 base-excision repair|interspecies interaction between organisms mitochondrion|nucleus protein binding|uracil DNA N-glycosylase activity central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(4)|ovary(1) 9 GCAACGTGCCCGTGGGCTTTGG 0.594 Base excision repair (BER), DNA glycosylases Immune Deficiency with Hyper-IgM 15 105 --- --- --- --- ARHGAP35 2909 broad.mit.edu 37 19 47423663 47423665 + In_Frame_Del DEL GTT GTT - TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr19:47423663_47423665delGTT ENST00000404338.3 + 1 1731_1733 c.1731_1733delGTT c.(1729-1734)cgt>cg p.RF577del NM_004491.4 NP_004482.4 Q9NRY4 RHG35_HUMAN Rho GTPase activating protein 35 577 axon guidance|negative regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent cytosol DNA binding|Rho GTPase activator activity|transcription corepressor activity TTAGTTCTCGGTTTATCCGGCCG 0.468 14 137 --- --- --- --- BRD1 23774 broad.mit.edu 37 22 50187690 50187690 + Frame_Shift_Del DEL C C - TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr22:50187690delC ENST00000216267.8 - 6 2837 c.2351delG c.(2350-2352)gcfs p.G784fs BRD1_ENST00000342989.5_Frame_Shift_Del_p.G379fs|BRD1_ENST00000404034.1_Frame_Shift_Del_p.G784fs|BRD1_ENST00000404760.1_Frame_Shift_Del_p.G784fs|BRD1_ENST00000457780.2_Frame_Shift_Del_p.G784fs|BRD1_ENST00000542442.1_Frame_Shift_Del_p.G472fs NM_014577.1 NP_055392.1 O95696 BRD1_HUMAN bromodomain containing 1 784 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) ACCTTCCTCGCCCGCCTCCGG 0.687 12 48 --- --- --- ---