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 ADAM23 8745 broad.mit.edu 37 2 207459597 207459597 + Missense_Mutation SNP G G A TCGA-BF-A1PV-01A-11D-A19A-08 TCGA-BF-A1PV-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0db1b3b6-b61c-4718-9cbf-65550d399bc7 792d1c6e-02b2-442b-a36e-d5a4afa5a6aa g.chr2:207459597G>A ENST00000264377.3 + 23 2543 c.2215G>A c.(2215-2217)Gat>Aat p.D739N ADAM23_ENST00000374416.1_Missense_Mutation_p.D739N|ADAM23_ENST00000374415.3_Missense_Mutation_p.D739N NM_003812.2 NP_003803.1 O75077 ADA23_HUMAN ADAM metallopeptidase domain 23 739 EGF-like. cell adhesion|central nervous system development|proteolysis extracellular region|integral to plasma membrane integrin binding|metalloendopeptidase activity|zinc ion binding NS(2)|breast(1)|endometrium(6)|kidney(3)|large_intestine(5)|liver(2)|lung(22)|ovary(2)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1) 51 LUSC - Lung squamous cell carcinoma(261;0.0961)|Lung(261;0.182)|Epithelial(149;0.205) CTGTCCACTCGATTCCAAGGG 0.483000 14 15 0 0 0.001855 0 0 AMER1 139285 broad.mit.edu 37 X 63410535 63410535 + Silent SNP G G A TCGA-BF-A1PV-01A-11D-A19A-08 TCGA-BF-A1PV-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0db1b3b6-b61c-4718-9cbf-65550d399bc7 792d1c6e-02b2-442b-a36e-d5a4afa5a6aa g.chrX:63410535G>A ENST00000330258.3 - 2 2904 c.2632C>T c.(2632-2634)Ctg>Ttg p.L878L AMER1_ENST00000374869.3_Intron|AMER1_ENST00000403336.1_Intron NM_152424.3 NP_689637.3 APC membrane recruitment protein 1 p.0?(67) CGAGGGTGCAGGCCAGGCAGT 0.567000 16 31 0 0 0.003163 0 0 ABCC9 10060 broad.mit.edu 37 12 21991094 21991094 + Missense_Mutation SNP C C T TCGA-BF-A1PV-01A-11D-A19A-08 TCGA-BF-A1PV-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0db1b3b6-b61c-4718-9cbf-65550d399bc7 792d1c6e-02b2-442b-a36e-d5a4afa5a6aa g.chr12:21991094C>T ENST00000261200.4 - 28 3483 c.3484G>A c.(3484-3486)Gaa>Aaa p.E1162K RP11-729I10.2_ENST00000539874.1_RNA|ABCC9_ENST00000345162.2_Missense_Mutation_p.E1126K|ABCC9_ENST00000261201.4_Missense_Mutation_p.E1162K NM_020297.2 NP_064693.2 O60706 ABCC9_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 9 1162 ABC transmembrane type-1 2. defense response to virus|potassium ion import ATP-sensitive potassium channel complex ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5) 118 Adenosine triphosphate(DB00171)|Glibenclamide(DB01016) TCGTCAAGTTCCTGGAGGTCC 0.433000 19 18 0 0 0.007413 0 0 CLEC18A 348174 broad.mit.edu 37 16 69988295 69988295 + Missense_Mutation SNP C C T TCGA-BF-A1PV-01A-11D-A19A-08 TCGA-BF-A1PV-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0db1b3b6-b61c-4718-9cbf-65550d399bc7 792d1c6e-02b2-442b-a36e-d5a4afa5a6aa g.chr16:69988295C>T ENST00000288040.6 + 3 462 c.275C>T c.(274-276)cCa>cTa p.P92L CLEC18A_ENST00000568461.1_Missense_Mutation_p.P92L|CLEC18A_ENST00000393701.2_Missense_Mutation_p.P92L|CLEC18A_ENST00000449317.2_Missense_Mutation_p.P92L NM_001136214.1|NM_001271197.1 NP_001129686.1|NP_001258126.1 A5D8T8 CL18A_HUMAN C-type lectin domain family 18, member A 92 SCP. extracellular region sugar binding NS(1)|endometrium(2)|lung(1)|skin(1) 5 TGTGGAACCCCAACCCCGAGC 0.647000 7 50 0 0 0.002450 0 0 CYP1A2 1544 broad.mit.edu 37 15 75047399 75047399 + Silent SNP C C T TCGA-BF-A1PV-01A-11D-A19A-08 TCGA-BF-A1PV-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0db1b3b6-b61c-4718-9cbf-65550d399bc7 792d1c6e-02b2-442b-a36e-d5a4afa5a6aa g.chr15:75047399C>T ENST00000343932.4 + 7 1584 c.1521C>T c.(1519-1521)gtC>gtT p.V507V NM_000761.3 NP_000752.2 P05177 CP1A2_HUMAN cytochrome P450, family 1, subfamily A, polypeptide 2 507 alkaloid metabolic process|exogenous drug catabolic process|methylation|monocarboxylic acid metabolic process|monoterpenoid metabolic process|oxidative deethylation|oxidative demethylation|steroid catabolic process|toxin biosynthetic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|caffeine oxidase activity|demethylase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 33 Acenocoumarol(DB01418)|Acetaminophen(DB00316)|Aciclovir(DB00787)|Alosetron(DB00969)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Anagrelide(DB00261)|Azelastine(DB00972)|Bortezomib(DB00188)|Caffeine(DB00201)|Carmustine(DB00262)|Chlordiazepoxide(DB00475)|Chlorpromazine(DB00477)|Chlorzoxazone(DB00356)|Cimetidine(DB00501)|Cinacalcet(DB01012)|Ciprofloxacin(DB00537)|Clomipramine(DB01242)|Clotrimazole(DB00257)|Clozapine(DB00363)|Conjugated Estrogens(DB00286)|Cyclobenzaprine(DB00924)|Dacarbazine(DB00851)|Desloratadine(DB00967)|Diazepam(DB00829)|Dibucaine(DB00527)|Diclofenac(DB00586)|Duloxetine(DB00476)|Enoxacin(DB00467)|Esomeprazole(DB00736)|Estradiol(DB00783)|Estrone(DB00655)|Fluorouracil(DB00544)|Flutamide(DB00499)|Fluvoxamine(DB00176)|Frovatriptan(DB00998)|Grepafloxacin(DB00365)|Haloperidol(DB00502)|Hesperetin(DB01094)|Imipramine(DB00458)|Ketoconazole(DB01026)|Leflunomide(DB01097)|Levobupivacaine(DB01002)|Levofloxacin(DB01137)|Lidocaine(DB00281)|Lomefloxacin(DB00978)|Melatonin(DB01065)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mirtazapine(DB00370)|Norfloxacin(DB01059)|Nortriptyline(DB00540)|Ofloxacin(DB01165)|Olanzapine(DB00334)|Ondansetron(DB00904)|Palonosetron(DB00377)|Pantoprazole(DB00213)|Pefloxacin(DB00487)|Pimozide(DB01100)|Propafenone(DB01182)|Propranolol(DB00571)|Quinidine(DB00908)|Ramelteon(DB00980)|Ranitidine(DB00863)|Rasagiline(DB01367)|Rifampin(DB01045)|Riluzole(DB00740)|Rofecoxib(DB00533)|Ropinirole(DB00268)|Ropivacaine(DB00296)|Tacrine(DB00382)|Telithromycin(DB00976)|Terfenadine(DB00342)|Theophylline(DB00277)|Thiabendazole(DB00730)|Tizanidine(DB00697)|Tolbutamide(DB01124)|Verapamil(DB00661)|Warfarin(DB00682)|Zileuton(DB00744)|Zolmitriptan(DB00315) GTGAACATGTCCAGGCGCGGC 0.622000 25 30 0 0 0.006320 0 0 UBE4A 9354 broad.mit.edu 37 11 118239494 118239494 + Silent SNP G G A TCGA-BF-A1PV-01A-11D-A19A-08 TCGA-BF-A1PV-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0db1b3b6-b61c-4718-9cbf-65550d399bc7 792d1c6e-02b2-442b-a36e-d5a4afa5a6aa g.chr11:118239494G>A ENST00000252108.3 + 3 401 c.270G>A c.(268-270)agG>agA p.R90R UBE4A_ENST00000431736.2_Silent_p.R90R NM_001204077.1|NM_004788.3 NP_001191006.1|NP_004779.2 Q14139 UBE4A_HUMAN ubiquitination factor E4A 90 ubiquitin-dependent protein catabolic process ubiquitin ligase complex protein binding autonomic_ganglia(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(7)|liver(2)|lung(14)|ovary(3)|prostate(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 56 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;3.28e-05) TGATCCAAAGGATCTTCCTTA 0.433000 29 54 0 0 0.005443 0 0 OGN 4969 broad.mit.edu 37 9 95165623 95165623 + Missense_Mutation SNP T T C TCGA-BF-A1PV-01A-11D-A19A-08 TCGA-BF-A1PV-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0db1b3b6-b61c-4718-9cbf-65550d399bc7 792d1c6e-02b2-442b-a36e-d5a4afa5a6aa g.chr9:95165623T>C ENST00000262551.4 - 2 487 c.67A>G c.(67-69)Acc>Gcc p.T23A OGN_ENST00000375561.5_Missense_Mutation_p.T23A|CENPP_ENST00000375587.3_Intron NM_033014.2 NP_148935.1 P20774 MIME_HUMAN osteoglycin 23 extracellular space|proteinaceous extracellular matrix growth factor activity central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|prostate(1)|urinary_tract(1) 13 TCCTGCTGGGTTGGTGGTGCT 0.383000 4 19 0 0 0.000248 0 0 NF1 4763 broad.mit.edu 37 17 29533315 29533315 + Nonsense_Mutation SNP C C T TCGA-BF-A1PV-01A-11D-A19A-08 TCGA-BF-A1PV-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0db1b3b6-b61c-4718-9cbf-65550d399bc7 792d1c6e-02b2-442b-a36e-d5a4afa5a6aa g.chr17:29533315C>T ENST00000358273.4 + 12 1701 c.1318C>T c.(1318-1320)Cga>Tga p.R440* NF1_ENST00000431387.4_Nonsense_Mutation_p.R440*|NF1_ENST00000356175.3_Nonsense_Mutation_p.R440* NM_001042492.2 NP_001035957.1 P21359 NF1_HUMAN neurofibromin 1 440 actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus protein binding|Ras GTPase activator activity p.0?(8)|p.?(6)|p.R440*(3)|p.R440>?(2) NF1/ACCN1(2) autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9) 599 all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659) UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146) GGTTGAACTTCGAAATATGTT 0.398000 """D, Mis, N, F, S, O""" """neurofibroma, glioma""" """neurofibroma, glioma""" Neurofibromatosis, type 1 TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088) 38 4 0 0 0.005524 0 0 SPHKAP 80309 broad.mit.edu 37 2 228886515 228886515 + Silent SNP C C T TCGA-BF-A1PV-01A-11D-A19A-08 TCGA-BF-A1PV-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0db1b3b6-b61c-4718-9cbf-65550d399bc7 792d1c6e-02b2-442b-a36e-d5a4afa5a6aa g.chr2:228886515C>T ENST00000392056.3 - 6 655 c.609G>A c.(607-609)acG>acA p.T203T SPHKAP_ENST00000344657.5_Silent_p.T203T NM_001142644.1 NP_001136116.1 Q2M3C7 SPKAP_HUMAN SPHK1 interactor, AKAP domain containing 203 cytoplasm protein binding NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 185 Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23) Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232) AGGAACAGTTCGTGTCATCCT 0.463000 14 11 0 0 0.003163 0 0 FMO1 2326 broad.mit.edu 37 1 171227356 171227356 + Missense_Mutation SNP A A C TCGA-BF-A1PV-01A-11D-A19A-08 TCGA-BF-A1PV-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0db1b3b6-b61c-4718-9cbf-65550d399bc7 792d1c6e-02b2-442b-a36e-d5a4afa5a6aa g.chr1:171227356A>C ENST00000354841.4 + 1 261 c.130A>C c.(130-132)Acc>Ccc p.T44P FMO1_ENST00000402921.2_Missense_Mutation_p.T44P|FMO1_ENST00000367750.3_Missense_Mutation_p.T44P|FMO1_ENST00000469112.1_3'UTR Q01740 FMO1_HUMAN flavin containing monooxygenase 1 44 NADPH oxidation|organic acid metabolic process|toxin metabolic process|xenobiotic metabolic process endoplasmic reticulum lumen|integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|prostate(2)|skin(2) 27 all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181) GTGGAGATTCACCGTAAGTGG 0.527000 39 63 0 0 0.002522 0 0 MUC17 140453 broad.mit.edu 37 7 100676391 100676391 + Missense_Mutation SNP C C T TCGA-BF-A1PV-01A-11D-A19A-08 TCGA-BF-A1PV-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0db1b3b6-b61c-4718-9cbf-65550d399bc7 792d1c6e-02b2-442b-a36e-d5a4afa5a6aa g.chr7:100676391C>T ENST00000306151.4 + 3 1758 c.1694C>T c.(1693-1695)cCt>cTt p.P565L NM_001040105.1 NP_001035194.1 Q685J3 MUC17_HUMAN mucin 17, cell surface associated 565 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) ACCTCAACTCCTAGTGAAGGA 0.498000 105 157 0 0 0.003610 0 0 SPANXN2 494119 broad.mit.edu 37 X 142795479 142795479 + Nonsense_Mutation SNP G G A TCGA-BF-A1PV-01A-11D-A19A-08 TCGA-BF-A1PV-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0db1b3b6-b61c-4718-9cbf-65550d399bc7 792d1c6e-02b2-442b-a36e-d5a4afa5a6aa g.chrX:142795479G>A ENST00000370498.1 - 2 952 c.199C>T c.(199-201)Caa>Taa p.Q67* NM_001009615.1 NP_001009615.1 Q5MJ10 SPXN2_HUMAN SPANX family, member N2 67 NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 27 Acute lymphoblastic leukemia(192;6.56e-05) TTCTCCAGTTGATTTGAATTT 0.438000 61 77 0 0 0.003610 0 0 C17orf53 78995 broad.mit.edu 37 17 42225491 42225491 + Missense_Mutation SNP C C T TCGA-BF-A1PV-01A-11D-A19A-08 TCGA-BF-A1PV-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0db1b3b6-b61c-4718-9cbf-65550d399bc7 792d1c6e-02b2-442b-a36e-d5a4afa5a6aa g.chr17:42225491C>T ENST00000319977.4 + 3 557 c.320C>T c.(319-321)tCc>tTc p.S107F C17orf53_ENST00000245382.6_Missense_Mutation_p.S107F|C17orf53_ENST00000585683.1_Missense_Mutation_p.S107F NM_001171251.1|NM_024032.3 NP_001164722.1|NP_076937.2 Q8N3J3 CQ053_HUMAN chromosome 17 open reading frame 53 107 NS(1)|breast(3)|cervix(1)|kidney(3)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|urinary_tract(1) 22 Breast(137;0.0364)|Prostate(33;0.0376) BRCA - Breast invasive adenocarcinoma(366;0.114) GTCTCTACTTCCAGCAGCTGG 0.567000 90 7 0 0 0.003610 0 0 SPATA2 9825 broad.mit.edu 37 20 48524859 48524859 + Missense_Mutation SNP G G A TCGA-BF-A1PV-01A-11D-A19A-08 TCGA-BF-A1PV-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0db1b3b6-b61c-4718-9cbf-65550d399bc7 792d1c6e-02b2-442b-a36e-d5a4afa5a6aa g.chr20:48524859G>A ENST00000422556.1 - 2 518 c.169C>T c.(169-171)Ccc>Tcc p.P57S SPATA2_ENST00000543716.1_Intron|SPATA2_ENST00000289431.5_Missense_Mutation_p.P57S NM_001135773.1 NP_001129245.1 Q9UM82 SPAT2_HUMAN spermatogenesis associated 2 57 cell differentiation|multicellular organismal development|spermatogenesis cytoplasm|nucleus central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(1) 20 Hepatocellular(150;0.133) BRCA - Breast invasive adenocarcinoma(9;4.03e-06) CGATAAAAGGGATCCACCTTG 0.617000 26 50 0 0 0.005443 0 0 NR1I3 9970 broad.mit.edu 37 1 161199554 161199554 + Missense_Mutation SNP C C T TCGA-BF-A1PV-01A-11D-A19A-08 TCGA-BF-A1PV-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0db1b3b6-b61c-4718-9cbf-65550d399bc7 792d1c6e-02b2-442b-a36e-d5a4afa5a6aa g.chr1:161199554C>T ENST00000428574.2 - 9 1034 c.941G>A c.(940-942)gGa>gAa p.G314E NR1I3_ENST00000367982.4_3'UTR|NR1I3_ENST00000442691.2_Missense_Mutation_p.G313E|NR1I3_ENST00000367981.3_3'UTR|NR1I3_ENST00000367983.4_3'UTR|NR1I3_ENST00000479324.1_5'UTR|NR1I3_ENST00000367980.2_3'UTR|NR1I3_ENST00000515621.1_3'UTR|NR1I3_ENST00000412844.2_Missense_Mutation_p.G289E|NR1I3_ENST00000512372.1_Missense_Mutation_p.G241E|NR1I3_ENST00000511944.1_3'UTR|NR1I3_ENST00000511676.1_3'UTR|NR1I3_ENST00000511748.1_3'UTR|TOMM40L_ENST00000367987.1_3'UTR|TOMM40L_ENST00000474486.1_3'UTR|TOMM40L_ENST00000367988.3_3'UTR|NR1I3_ENST00000508740.1_Missense_Mutation_p.G285E|NR1I3_ENST00000508387.1_3'UTR|NR1I3_ENST00000505005.1_Missense_Mutation_p.G270E|NR1I3_ENST00000504010.1_3'UTR|NR1I3_ENST00000437437.2_Missense_Mutation_p.G280E|NR1I3_ENST00000502985.1_3'UTR Q14994 NR1I3_HUMAN nuclear receptor subfamily 1, group I, member 3 0 regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm androgen receptor activity|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|thyroid hormone receptor activity|transcription coactivator activity|zinc ion binding endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|skin(1) 15 all_cancers(52;1.86e-18)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00376) CCAGGGTGTTCCAGGTGAGCT 0.547000 26 30 0 0 0.005443 0 0 FARP2 9855 broad.mit.edu 37 2 242396209 242396209 + Missense_Mutation SNP C C T rs145630778 by1000genomes TCGA-BF-A1PV-01A-11D-A19A-08 TCGA-BF-A1PV-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0db1b3b6-b61c-4718-9cbf-65550d399bc7 792d1c6e-02b2-442b-a36e-d5a4afa5a6aa g.chr2:242396209C>T ENST00000264042.3 + 14 1629 c.1459C>T c.(1459-1461)Ccc>Tcc p.P487S FARP2_ENST00000373287.4_Missense_Mutation_p.P487S|FARP2_ENST00000545004.1_Missense_Mutation_p.P487S NM_014808.2 NP_055623.1 O94887 FARP2_HUMAN FERM, RhoGEF and pleckstrin domain protein 2 487 Pro-rich. axon guidance|neuron remodeling|Rac protein signal transduction|regulation of Rho protein signal transduction cytoskeleton|cytosol|extrinsic to membrane cytoskeletal protein binding|Rho guanyl-nucleotide exchange factor activity breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 43 all_cancers(19;4.88e-34)|all_epithelial(40;4.81e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Lung NSC(271;0.0886)|Ovarian(221;0.0905)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.238) Epithelial(32;1.81e-33)|all cancers(36;1.61e-30)|OV - Ovarian serous cystadenocarcinoma(60;6.83e-15)|Kidney(56;1.19e-08)|KIRC - Kidney renal clear cell carcinoma(57;8.98e-08)|BRCA - Breast invasive adenocarcinoma(100;1.49e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00125)|Colorectal(34;0.0199)|COAD - Colon adenocarcinoma(134;0.121) CCGGAAGAGCCCCCTGAGTCT 0.617000 48 64 0 0 0.003610 0 0 SPTBN4 57731 broad.mit.edu 37 19 41071462 41071462 + Missense_Mutation SNP G G A TCGA-BF-A1PV-01A-11D-A19A-08 TCGA-BF-A1PV-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0db1b3b6-b61c-4718-9cbf-65550d399bc7 792d1c6e-02b2-442b-a36e-d5a4afa5a6aa g.chr19:41071462G>A ENST00000352632.3 + 28 6135 c.6049G>A c.(6049-6051)Gat>Aat p.D2017N SPTBN4_ENST00000392025.1_Missense_Mutation_p.D760N|SPTBN4_ENST00000598249.1_Missense_Mutation_p.D2017N|SPTBN4_ENST00000338932.3_Missense_Mutation_p.D2017N Q9H254 SPTN4_HUMAN spectrin, beta, non-erythrocytic 4 2017 actin filament capping|axon guidance|cytoskeletal anchoring at plasma membrane|vesicle-mediated transport cytosol|nuclear matrix|PML body|spectrin actin binding|ankyrin binding|structural constituent of cytoskeleton breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 73 Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384) TGCCATGGCTGATGAGGTGGG 0.657000 7 15 0 0 0.001984 0 0 COL14A1 7373 broad.mit.edu 37 8 121381693 121381693 + Silent SNP C C T TCGA-BF-A1PV-01A-11D-A19A-08 TCGA-BF-A1PV-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0db1b3b6-b61c-4718-9cbf-65550d399bc7 792d1c6e-02b2-442b-a36e-d5a4afa5a6aa g.chr8:121381693C>T ENST00000297848.3 + 47 5550 c.5280C>T c.(5278-5280)gaC>gaT p.D1760D COL14A1_ENST00000309791.4_Silent_p.D1760D|COL14A1_ENST00000247781.3_Silent_p.D1665D NM_021110.1 NP_066933.1 Q05707 COEA1_HUMAN collagen, type XIV, alpha 1 1760 Triple-helical region 2 (COL1). cell-cell adhesion|collagen fibril organization collagen type XIV|extracellular space collagen binding|extracellular matrix structural constituent|protein binding, bridging NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2) 119 Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161) OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503) GATATTGTGACCCCTCATCAT 0.552000 14 41 0 0 0.001855 0 0 KCNA5 3741 broad.mit.edu 37 12 5154998 5154998 + Missense_Mutation SNP C C T TCGA-BF-A1PV-01A-11D-A19A-08 TCGA-BF-A1PV-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0db1b3b6-b61c-4718-9cbf-65550d399bc7 792d1c6e-02b2-442b-a36e-d5a4afa5a6aa g.chr12:5154998C>T ENST00000252321.3 + 1 1914 c.1685C>T c.(1684-1686)tCc>tTc p.S562F NM_002234.3 NP_002225.2 P22460 KCNA5_HUMAN potassium voltage-gated channel, shaker-related subfamily, member 5 562 Golgi apparatus|voltage-gated potassium channel complex delayed rectifier potassium channel activity NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(1)|lung(21)|ovary(5)|prostate(2)|upper_aerodigestive_tract(2) 52 AGCAGGGGATCCTTCTGCAAG 0.642000 16 29 0 0 0.007413 0 0 DRD2 1813 broad.mit.edu 37 11 113286265 113286265 + Missense_Mutation SNP G G A TCGA-BF-A1PV-01A-11D-A19A-08 TCGA-BF-A1PV-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0db1b3b6-b61c-4718-9cbf-65550d399bc7 792d1c6e-02b2-442b-a36e-d5a4afa5a6aa g.chr11:113286265G>A ENST00000362072.3 - 5 945 c.601C>T c.(601-603)Ccc>Tcc p.P201S DRD2_ENST00000544518.1_Missense_Mutation_p.P200S|DRD2_ENST00000355319.2_Missense_Mutation_p.P201S|DRD2_ENST00000538967.1_Missense_Mutation_p.P201S|DRD2_ENST00000346454.3_Missense_Mutation_p.P201S|DRD2_ENST00000542968.1_Missense_Mutation_p.P201S|DRD2_ENST00000535984.1_5'UTR NM_000795.3 NP_000786.1 P14416 DRD2_HUMAN dopamine receptor D2 201 activation of phospholipase C activity by dopamine receptor signaling pathway|adenohypophysis development|adult walking behavior|arachidonic acid secretion|axonogenesis|behavioral response to cocaine|behavioral response to ethanol|branching morphogenesis of a nerve|cerebral cortex GABAergic interneuron migration|circadian regulation of gene expression|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|intracellular protein kinase cascade|negative regulation of blood pressure|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of dopamine receptor signaling pathway|negative regulation of protein kinase B signaling cascade|negative regulation of protein secretion|negative regulation of synaptic transmission, glutamatergic|neurological system process involved in regulation of systemic arterial blood pressure|peristalsis|phosphatidylinositol metabolic process|positive regulation of dopamine uptake|positive regulation of growth hormone secretion|positive regulation of neuroblast proliferation|prepulse inhibition|protein localization|regulation of heart rate|regulation of long-term neuronal synaptic plasticity|regulation of potassium ion transport|regulation of sodium ion transport|regulation of synaptic transmission, GABAergic|release of sequestered calcium ion into cytosol|response to amphetamine|response to drug|response to histamine|response to morphine|sensory perception of smell|synapse assembly|temperature homeostasis|visual learning integral to plasma membrane dopamine D2 receptor activity|dopamine receptor activity, coupled via Gi/Go|drug binding|potassium channel regulator activity|protein binding endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(18)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 39 all_cancers(61;3.91e-16)|all_epithelial(67;2.95e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000977)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0494) BRCA - Breast invasive adenocarcinoma(274;5.77e-06)|Epithelial(105;6.66e-05)|all cancers(92;0.000307)|OV - Ovarian serous cystadenocarcinoma(223;0.216) Acetophenazine(DB01063)|Amantadine(DB00915)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Bromocriptine(DB01200)|Buspirone(DB00490)|Cabergoline(DB00248)|Carphenazine(DB01038)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Domperidone(DB01184)|Droperidol(DB00450)|Ergotamine(DB00696)|Flupenthixol(DB00875)|Fluphenazine(DB00623)|Fluspirilene(DB04842)|Haloperidol(DB00502)|Levodopa(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Mesoridazine(DB00933)|Metoclopramide(DB01233)|Minaprine(DB00805)|Molindone(DB01618)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Perphenazine(DB00850)|Pimozide(DB01100)|Pramipexole(DB00413)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Remoxipride(DB00409)|Risperidone(DB00734)|Ropinirole(DB00268)|Sertindole(DB06144)|Sulpiride(DB00391)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Tranylcypromine(DB00752)|Trifluoperazine(DB00831)|Triflupromazine(DB00508)|Ziprasidone(DB00246)|Zuclopenthixol(DB01624) ACAATGAAGGGCACGTAGAAG 0.597000 34 31 0 0 0.002445 0 0 LY86 9450 broad.mit.edu 37 6 6588994 6588994 + Silent SNP C C T TCGA-BF-A1PV-01A-11D-A19A-08 TCGA-BF-A1PV-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0db1b3b6-b61c-4718-9cbf-65550d399bc7 792d1c6e-02b2-442b-a36e-d5a4afa5a6aa g.chr6:6588994C>T ENST00000379953.2 + 2 379 c.27C>T c.(25-27)ttC>ttT p.F9F LY86-AS1_ENST00000435641.1_RNA|LY86-AS1_ENST00000429345.1_RNA|LY86_ENST00000230568.4_Silent_p.F9F O95711 LY86_HUMAN lymphocyte antigen 86 9 apoptosis|cell proliferation|humoral immune response|inflammatory response|innate immune response extracellular space|plasma membrane large_intestine(2)|lung(6) 8 Ovarian(93;0.0377) CCACTCTCTTCCTCTGGACTC 0.542000 39 23 0 0 0.007835 0 0 REV1 51455 broad.mit.edu 37 2 100040690 100040690 + Missense_Mutation SNP G G A TCGA-BF-A1PV-01A-11D-A19A-08 TCGA-BF-A1PV-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0db1b3b6-b61c-4718-9cbf-65550d399bc7 792d1c6e-02b2-442b-a36e-d5a4afa5a6aa g.chr2:100040690G>A ENST00000258428.3 - 10 1828 c.1600C>T c.(1600-1602)Cct>Tct p.P534S REV1_ENST00000465835.1_5'UTR|REV1_ENST00000393445.3_Missense_Mutation_p.P533S NM_001037872.1|NM_016316.2 NP_001032961.1|NP_057400.1 Q9UBZ9 REV1_HUMAN REV1, polymerase (DNA directed) 534 UmuC. DNA replication|error-prone translesion synthesis|response to UV nucleoplasm damaged DNA binding|DNA-directed DNA polymerase activity|magnesium ion binding|protein binding NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(14)|lung(12)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 39 TGAAGATTAGGACATAGTTGT 0.373000 Direct reversal of damage 7 5 0 0 0.001984 0 0 IGHV4-61 28391 broad.mit.edu 37 14 107095556 107095556 + RNA SNP T T C TCGA-BF-A1PV-01A-11D-A19A-08 TCGA-BF-A1PV-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0db1b3b6-b61c-4718-9cbf-65550d399bc7 792d1c6e-02b2-442b-a36e-d5a4afa5a6aa g.chr14:107095556T>C ENST00000390630.2 - 0 106 ACCACAGGTGTTTCATGTTCT 0.532000 3 69 0 0 0.001984 0 0 BRD1 23774 broad.mit.edu 37 22 50217002 50217002 + Missense_Mutation SNP G G A TCGA-BF-A1PV-01A-11D-A19A-08 TCGA-BF-A1PV-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0db1b3b6-b61c-4718-9cbf-65550d399bc7 792d1c6e-02b2-442b-a36e-d5a4afa5a6aa g.chr22:50217002G>A ENST00000216267.8 - 1 1450 c.964C>T c.(964-966)Cgg>Tgg p.R322W BRD1_ENST00000457780.2_Missense_Mutation_p.R322W|BRD1_ENST00000404034.1_Missense_Mutation_p.R322W|BRD1_ENST00000404760.1_Missense_Mutation_p.R322W NM_014577.1 NP_055392.1 O95696 BRD1_HUMAN bromodomain containing 1 322 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) AGTTTCCACCGGGCTGGAGGG 0.582000 51 60 0 0 0.003610 0 0 CHI3L1 1116 broad.mit.edu 37 1 203149625 203149625 + Silent SNP C C T TCGA-BF-A1PV-01A-11D-A19A-08 TCGA-BF-A1PV-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0db1b3b6-b61c-4718-9cbf-65550d399bc7 792d1c6e-02b2-442b-a36e-d5a4afa5a6aa g.chr1:203149625C>T ENST00000255409.3 - 8 992 c.867G>A c.(865-867)aaG>aaA p.K289K NM_001276.2 NP_001267.2 P36222 CH3L1_HUMAN chitinase 3-like 1 (cartilage glycoprotein-39) 289 chitin catabolic process extracellular space|proteinaceous extracellular matrix cation binding|chitinase activity|extracellular matrix structural constituent|sugar binding breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|pancreas(1)|skin(1) 18 TCCCTGCCTCCTTGGTGAACC 0.597000 20 32 0 0 0.001882 0 0 NRAS 4893 broad.mit.edu 37 1 115256529 115256529 + Missense_Mutation SNP T T A rs11554290 TCGA-BF-A1PV-01A-11D-A19A-08 TCGA-BF-A1PV-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0db1b3b6-b61c-4718-9cbf-65550d399bc7 792d1c6e-02b2-442b-a36e-d5a4afa5a6aa g.chr1:115256529T>A ENST00000369535.4 - 3 435 c.182A>T c.(181-183)cAa>cTa p.Q61L 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.Q61R(817)|p.Q61L(175)|p.Q61P(23)|p.Q61K(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) GTACTCTTCTTGTCCAGCTGT 0.458000 Q61L(C3A_LIVER)|Q61L(HEPG2_LIVER)|Q61L(HL60_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(IPC298_SKIN)|Q61L(KMS21BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(MELJUSO_SKIN)|Q61L(MHHES1_BONE)|Q61L(MOLP8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(OCIAML3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61P(TF1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(HT1197_URINARY_TRACT)|Q61R(KMS27_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(KU1919_URINARY_TRACT)|Q61R(NCIH2347_LUNG)|Q61R(ONS76_CENTRAL_NERVOUS_SYSTEM)|Q61R(SKMEL2_SKIN)|Q61R(SW1271_LUNG)|Q61R(TT2609C02_THYROID) 50 Mis """melanoma, MM, AML, thyroid""" Noonan syndrome TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6) 56 68 0 0 0.003610 0 0 MTBP 27085 broad.mit.edu 37 8 121502729 121502729 + Missense_Mutation SNP C C T TCGA-BF-A1PV-01A-11D-A19A-08 TCGA-BF-A1PV-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0db1b3b6-b61c-4718-9cbf-65550d399bc7 792d1c6e-02b2-442b-a36e-d5a4afa5a6aa g.chr8:121502729C>T ENST00000305949.1 + 13 1411 c.1366C>T c.(1366-1368)Cca>Tca p.P456S NM_022045.3 NP_071328.2 Q96DY7 MTBP_HUMAN Mdm2, transformed 3T3 cell double minute 2, p53 binding protein (mouse) binding protein, 104kDa 456 cell cycle arrest NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 30 Lung NSC(37;5.68e-08)|Ovarian(258;0.00769)|all_neural(195;0.0804)|Hepatocellular(40;0.161) STAD - Stomach adenocarcinoma(47;0.00503) ATTATCACTTCCACATTTTTC 0.348000 7 7 0 0 0.001984 0 0 SIPA1L2 57568 broad.mit.edu 37 1 232650533 232650533 + Missense_Mutation SNP C C T TCGA-BF-A1PV-01A-11D-A19A-08 TCGA-BF-A1PV-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0db1b3b6-b61c-4718-9cbf-65550d399bc7 792d1c6e-02b2-442b-a36e-d5a4afa5a6aa g.chr1:232650533C>T ENST00000366630.1 - 2 911 c.553G>A c.(553-555)Ggg>Agg p.G185R SIPA1L2_ENST00000262861.4_Missense_Mutation_p.G185R Q9P2F8 SI1L2_HUMAN signal-induced proliferation-associated 1 like 2 185 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) AGGGCAGCCCCGGTGTTGGGG 0.483000 26 42 0 0 0.005443 0 0 LGALS12 85329 broad.mit.edu 37 11 63283841 63283841 + Silent SNP C C T TCGA-BF-A1PV-01A-11D-A19A-08 TCGA-BF-A1PV-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0db1b3b6-b61c-4718-9cbf-65550d399bc7 792d1c6e-02b2-442b-a36e-d5a4afa5a6aa g.chr11:63283841C>T ENST00000415491.2 + 8 1418 c.804C>T c.(802-804)gtC>gtT p.V268V LGALS12_ENST00000425950.2_Silent_p.V259V|LGALS12_ENST00000394618.3_Silent_p.V329V|LGALS12_ENST00000340246.5_Silent_p.V330V|LGALS12_ENST00000255684.5_Silent_p.V320V NM_001142537.1 NP_001136009.1 Q96DT0 LEG12_HUMAN lectin, galactoside-binding, soluble, 12 329 Galectin 2. apoptosis|induction of apoptosis by intracellular signals nucleus lactose binding breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|upper_aerodigestive_tract(1) 16 GTGGAAGTGTCCAGCTCTACT 0.622000 22 20 0 0 0.002780 0 0 SOGA2 23255 broad.mit.edu 37 18 8784733 8784733 + Silent SNP C C T TCGA-BF-A1PV-01A-11D-A19A-08 TCGA-BF-A1PV-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0db1b3b6-b61c-4718-9cbf-65550d399bc7 792d1c6e-02b2-442b-a36e-d5a4afa5a6aa g.chr18:8784733C>T ENST00000359865.3 + 6 1765 c.1623C>T c.(1621-1623)tcC>tcT p.S541S SOGA2_ENST00000306329.11_Silent_p.S901S|SOGA2_ENST00000306285.7_5'UTR|SOGA2_ENST00000400050.3_Silent_p.S541S|SOGA2_ENST00000517570.1_Silent_p.S541S NM_015210.3 NP_056025.2 Q9Y4B5 CC165_HUMAN SOGA family member 2 892 ATGGCCTATCCCCCTTGCCCC 0.617000 93 51 0 0 0.003610 0 0 KCND3 3752 broad.mit.edu 37 1 112318829 112318829 + Missense_Mutation SNP G G A TCGA-BF-A1PV-01A-11D-A19A-08 TCGA-BF-A1PV-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0db1b3b6-b61c-4718-9cbf-65550d399bc7 792d1c6e-02b2-442b-a36e-d5a4afa5a6aa g.chr1:112318829G>A ENST00000369697.1 - 6 1850 c.1781C>T c.(1780-1782)gCc>gTc p.A594V KCND3_ENST00000302127.4_Missense_Mutation_p.A594V|KCND3_ENST00000315987.2_Missense_Mutation_p.A613V Q9UK17 KCND3_HUMAN potassium voltage-gated channel, Shal-related subfamily, member 3 613 sarcolemma|voltage-gated potassium channel complex A-type (transient outward) potassium channel activity|metal ion binding NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2) 49 all_cancers(81;8.52e-06)|all_epithelial(167;5.65e-06)|all_lung(203;2.72e-05)|Lung NSC(69;4.56e-05) all cancers(265;0.056)|Lung(183;0.0576)|Colorectal(144;0.1)|Epithelial(280;0.104)|COAD - Colon adenocarcinoma(174;0.222)|LUSC - Lung squamous cell carcinoma(189;0.231) GCTGATGATGGCTGTGGTGAT 0.557000 17 15 0 0 0.008871 0 0 PXDNL 137902 broad.mit.edu 37 8 52320774 52320774 + Missense_Mutation SNP G G A TCGA-BF-A1PV-01A-11D-A19A-08 TCGA-BF-A1PV-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0db1b3b6-b61c-4718-9cbf-65550d399bc7 792d1c6e-02b2-442b-a36e-d5a4afa5a6aa g.chr8:52320774G>A ENST00000356297.4 - 17 3510 c.3410C>T c.(3409-3411)tCg>tTg p.S1137L PXDNL_ENST00000543296.1_Missense_Mutation_p.S1137L NM_144651.4 NP_653252.3 A1KZ92 PXDNL_HUMAN peroxidasin homolog (Drosophila)-like 1137 hydrogen peroxide catabolic process extracellular space heme binding|peroxidase activity NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 48 all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015) GGTGGCAGCCGAATCCACGGC 0.522000 162 83 0 0 0.003610 0 0 CYP2B6 1555 broad.mit.edu 37 19 41512832 41512832 + Silent SNP C C T TCGA-BF-A1PV-01A-11D-A19A-08 TCGA-BF-A1PV-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0db1b3b6-b61c-4718-9cbf-65550d399bc7 792d1c6e-02b2-442b-a36e-d5a4afa5a6aa g.chr19:41512832C>T ENST00000324071.4 + 4 514 c.507C>T c.(505-507)ttC>ttT p.F169F CYP2B6_ENST00000330446.5_Intron|CYP2B6_ENST00000598834.1_3'UTR|CYP2B6_ENST00000593831.1_Intron NM_000767.4 NP_000758.1 P20813 CP2B6_HUMAN cytochrome P450, family 2, subfamily B, polypeptide 6 169 cellular ketone metabolic process|exogenous drug catabolic process|steroid metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|electron carrier activity|heme binding|oxygen binding NS(1)|breast(1)|endometrium(5)|kidney(1)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 28 LUSC - Lung squamous cell carcinoma(20;0.00322) Bupropion(DB01156)|Butalbital(DB00241)|Carbamazepine(DB00564)|Clopidogrel(DB00758)|Cyclophosphamide(DB00531)|Efavirenz(DB00625)|Ifosfamide(DB01181)|Memantine(DB01043)|Meperidine(DB00454)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Midazolam(DB00683)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicotine(DB00184)|Orphenadrine(DB01173)|Phenytoin(DB00252)|Propofol(DB00818)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Ticlopidine(DB00208)|Troleandomycin(DB01361) ACCCCACCTTCCTCTTCCAGT 0.502000 13 11 0 0 0.001855 0 0 DPEP1 1800 broad.mit.edu 37 16 89703657 89703657 + Missense_Mutation SNP G G A TCGA-BF-A1PV-01A-11D-A19A-08 TCGA-BF-A1PV-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0db1b3b6-b61c-4718-9cbf-65550d399bc7 792d1c6e-02b2-442b-a36e-d5a4afa5a6aa g.chr16:89703657G>A ENST00000393092.3 + 7 928 c.637G>A c.(637-639)Gct>Act p.A213T DPEP1_ENST00000261615.4_Missense_Mutation_p.A213T|DPEP1_ENST00000421184.1_Missense_Mutation_p.A213T NM_004413.3 NP_004404.1 P16444 DPEP1_HUMAN dipeptidase 1 (renal) 213 proteolysis anchored to membrane|apical plasma membrane|microvillus membrane dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metalloexopeptidase activity|protein binding large_intestine(2)|lung(10)|prostate(1)|urinary_tract(1) 14 all_lung(18;0.0054)|all_hematologic(23;0.094) BRCA - Breast invasive adenocarcinoma(80;0.0258) Cilastatin(DB01597) CATCGACTTGGCTCACGTGTC 0.667000 31 30 0 0 0.003271 0 0 NLRC5 84166 broad.mit.edu 37 16 57116378 57116378 + Nonsense_Mutation SNP C C T TCGA-BF-A1PV-01A-11D-A19A-08 TCGA-BF-A1PV-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0db1b3b6-b61c-4718-9cbf-65550d399bc7 792d1c6e-02b2-442b-a36e-d5a4afa5a6aa g.chr16:57116378C>T ENST00000262510.6 + 49 5764 c.5539C>T c.(5539-5541)Cag>Tag p.Q1847* NLRC5_ENST00000436936.1_3'UTR|NLRC5_ENST00000308149.7_Nonsense_Mutation_p.Q1818*|NLRC5_ENST00000539144.1_Nonsense_Mutation_p.Q1818* NM_032206.4 NP_115582.4 Q86WI3 NLRC5_HUMAN NLR family, CARD domain containing 5 1847 defense response to virus|innate immune response|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|negative regulation of type I interferon-mediated signaling pathway|positive regulation of interferon-gamma-mediated signaling pathway|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type I interferon-mediated signaling pathway|regulation of kinase activity cytosol|nucleus ATP binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding NS(2)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(21)|ovary(8)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 75 all_neural(199;0.225) CCTGAAGAGCCAGGAGCCCAG 0.567000 20 54 0 0 0.002780 0 0 EFHB 151651 broad.mit.edu 37 3 19947215 19947215 + Missense_Mutation SNP G G A TCGA-BF-A1PV-01A-11D-A19A-08 TCGA-BF-A1PV-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0db1b3b6-b61c-4718-9cbf-65550d399bc7 792d1c6e-02b2-442b-a36e-d5a4afa5a6aa g.chr3:19947215G>A ENST00000295824.9 - 6 1476 c.1315C>T c.(1315-1317)Cca>Tca p.P439S EFHB_ENST00000498089.1_5'UTR|EFHB_ENST00000344838.4_Missense_Mutation_p.P309S NM_144715.3 NP_653316.3 Q8N7U6 EFHB_HUMAN EF-hand domain family, member B 439 signal transduction proteinaceous extracellular matrix calcium ion binding breast(2)|endometrium(4)|kidney(1)|lung(17)|prostate(1)|urinary_tract(1) 26 AAACTTGATGGGTTATACTTT 0.398000 13 19 0 0 0.001368 0 0 S100A7A 338324 broad.mit.edu 37 1 153390687 153390687 + Silent SNP C C T TCGA-BF-A1PV-01A-11D-A19A-08 TCGA-BF-A1PV-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0db1b3b6-b61c-4718-9cbf-65550d399bc7 792d1c6e-02b2-442b-a36e-d5a4afa5a6aa g.chr1:153390687C>T ENST00000368729.4 + 2 186 c.129C>T c.(127-129)ttC>ttT p.F43F S100A7A_ENST00000368728.2_Silent_p.F43F|S100A7A_ENST00000329256.2_Silent_p.F43F NM_176823.3 NP_789793.1 Q86SG5 S1A7A_HUMAN S100 calcium binding protein A7A 43 EF-hand 1. cytoplasm calcium ion binding cervix(1)|endometrium(3)|kidney(1)|lung(3)|prostate(1)|skin(2)|stomach(1) 12 all_lung(78;2.81e-33)|Lung NSC(65;9.54e-32)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.171) TCCCCAATTTCCTCAGTGCCT 0.493000 24 40 0 0 0.003330 0 0 NKD2 85409 broad.mit.edu 37 5 1034362 1034362 + Missense_Mutation SNP G G A rs143957338 TCGA-BF-A1PV-01A-11D-A19A-08 TCGA-BF-A1PV-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0db1b3b6-b61c-4718-9cbf-65550d399bc7 792d1c6e-02b2-442b-a36e-d5a4afa5a6aa g.chr5:1034362G>A ENST00000296849.5 + 6 572 c.343G>A c.(343-345)Gat>Aat p.D115N NKD2_ENST00000537972.1_Missense_Mutation_p.D115N|NKD2_ENST00000274150.4_Missense_Mutation_p.D115N NM_033120.2 NP_149111.1 Q969F2 NKD2_HUMAN naked cuticle homolog 2 (Drosophila) 115 Interaction with DVL1, DVL2 and DVL3 (By similarity).|Targeting to the basolateral cell membrane. exocytosis|Wnt receptor signaling pathway cytoplasmic membrane-bounded vesicle|plasma membrane calcium ion binding|ubiquitin protein ligase binding breast(1)|central_nervous_system(3)|large_intestine(1)|lung(8)|pancreas(1) 14 Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;3.28e-09) Epithelial(17;0.00093)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00417)|Lung(60;0.165) ACTCCAGTGCGATGTCTCGGT 0.627000 13 32 0 0 0.001855 0 0 C1orf168 199920 broad.mit.edu 37 1 57192203 57192203 + Missense_Mutation SNP T T G TCGA-BF-A1PV-01A-11D-A19A-08 TCGA-BF-A1PV-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0db1b3b6-b61c-4718-9cbf-65550d399bc7 792d1c6e-02b2-442b-a36e-d5a4afa5a6aa g.chr1:57192203T>G ENST00000343433.6 - 16 1927 c.1847A>C c.(1846-1848)aAa>aCa p.K616T NM_001004303.4 NP_001004303.3 Q5VWT5 CA168_HUMAN chromosome 1 open reading frame 168 616 NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|skin(6)|stomach(1)|urinary_tract(2) 46 TTTCTCTTTTTTTTCCTTTGG 0.358000 5 7 0 0 0.001168 0 0 MYCN 4613 broad.mit.edu 37 2 16085831 16085831 + Missense_Mutation SNP C C T TCGA-BF-A1PV-01A-11D-A19A-08 TCGA-BF-A1PV-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0db1b3b6-b61c-4718-9cbf-65550d399bc7 792d1c6e-02b2-442b-a36e-d5a4afa5a6aa g.chr2:16085831C>T ENST00000281043.3 + 3 1304 c.1007C>T c.(1006-1008)tCt>tTt p.S336F NM_005378.4 NP_005369.2 P04198 MYCN_HUMAN v-myc avian myelocytomatosis viral oncogene neuroblastoma derived homolog 336 regulation of transcription from RNA polymerase II promoter chromatin|nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1) 31 all_cancers(1;1.35e-08)|all_neural(1;2.92e-24)|Lung SC(1;3.26e-07)|Medulloblastoma(1;6.9e-06)|all_lung(1;1.26e-05)|Glioma(3;0.135)|Acute lymphoblastic leukemia(172;0.155)|all_epithelial(1;0.169)|all_hematologic(175;0.197) GBM - Glioblastoma multiforme(3;0.000332) GCCGCCCCCTCTCCCTACGTG 0.612000 A neuroblastoma 12 6 0 0 0.000978 0 0 CSMD2 114784 broad.mit.edu 37 1 34011788 34011788 + Silent SNP C C T TCGA-BF-A1PV-01A-11D-A19A-08 TCGA-BF-A1PV-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0db1b3b6-b61c-4718-9cbf-65550d399bc7 792d1c6e-02b2-442b-a36e-d5a4afa5a6aa g.chr1:34011788C>T ENST00000373381.4 - 57 9125 c.8949G>A c.(8947-8949)ggG>ggA p.G2983G NM_052896.3 NP_443128.2 Q7Z408 CSMD2_HUMAN CUB and Sushi multiple domains 2 2956 Sushi 22. 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) GAGCCGGGATCCCAGGGTCAC 0.567000 7 14 0 0 0.004482 0 0 ITGB4 3691 broad.mit.edu 37 17 73751232 73751232 + Missense_Mutation SNP C C T TCGA-BF-A1PV-01A-11D-A19A-08 TCGA-BF-A1PV-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0db1b3b6-b61c-4718-9cbf-65550d399bc7 792d1c6e-02b2-442b-a36e-d5a4afa5a6aa g.chr17:73751232C>T ENST00000339591.3 + 34 4632 c.4445C>T c.(4444-4446)tCc>tTc p.S1482F ITGB4_ENST00000579662.1_Intron|ITGB4_ENST00000450894.3_Intron|GALK1_ENST00000225614.2_Intron|ITGB4_ENST00000449880.2_Missense_Mutation_p.S1482F|ITGB4_ENST00000200181.3_Intron P16144 ITB4_HUMAN integrin, beta 4 1519 cell communication|cell motility|cell-matrix adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|multicellular organismal development|response to wounding cell leading edge|cell surface|hemidesmosome|integrin complex protein binding|receptor activity breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(1)|lung(25)|skin(1)|urinary_tract(1) 43 all_cancers(13;1.5e-07) all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154) TTCCCCCCTTCCAGGGGCCCA 0.667000 14 34 0 0 0.004007 0 0 MAMDC2 256691 broad.mit.edu 37 9 72755146 72755146 + Nonsense_Mutation SNP G G A TCGA-BF-A1PV-01A-11D-A19A-08 TCGA-BF-A1PV-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0db1b3b6-b61c-4718-9cbf-65550d399bc7 792d1c6e-02b2-442b-a36e-d5a4afa5a6aa g.chr9:72755146G>A ENST00000377182.4 + 8 1697 c.1080G>A c.(1078-1080)tgG>tgA p.W360* MAMDC2-AS1_ENST00000591368.1_RNA NM_153267.4 NP_694999.3 Q7Z304 MAMC2_HUMAN MAM domain containing 2 360 MAM 3. endoplasmic reticulum|membrane breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|pancreas(1)|upper_aerodigestive_tract(1) 14 GTCCAGGTTGGACCCGAGTGA 0.463000 13 15 0 0 0.002450 0 0 FOXN1 8456 broad.mit.edu 37 17 26861437 26861437 + Missense_Mutation SNP C C T TCGA-BF-A1PV-01A-11D-A19A-08 TCGA-BF-A1PV-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0db1b3b6-b61c-4718-9cbf-65550d399bc7 792d1c6e-02b2-442b-a36e-d5a4afa5a6aa g.chr17:26861437C>T ENST00000226247.2 + 6 1045 c.1016C>T c.(1015-1017)tCc>tTc p.S339F FOXN1_ENST00000579795.1_Missense_Mutation_p.S339F NM_003593.2 NP_003584.2 O15353 FOXN1_HUMAN forkhead box N1 339 defense response|embryo development|epithelial cell proliferation|keratinocyte differentiation|organ morphogenesis|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter|thymus development transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding endometrium(1)|large_intestine(3)|lung(8)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 Lung NSC(42;0.00431) TCAGGAAGTTCCTCCCGCAAG 0.547000 27 31 0 0 0.003954 0 0 DNAH2 146754 broad.mit.edu 37 17 7722568 7722568 + Silent SNP C C T rs111592711 TCGA-BF-A1PV-01A-11D-A19A-08 TCGA-BF-A1PV-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0db1b3b6-b61c-4718-9cbf-65550d399bc7 792d1c6e-02b2-442b-a36e-d5a4afa5a6aa g.chr17:7722568C>T ENST00000572933.1 + 72 12317 c.10857C>T c.(10855-10857)ttC>ttT p.F3619F DNAH2_ENST00000389173.2_Silent_p.F3619F Q9P225 DYH2_HUMAN dynein, axonemal, heavy chain 2 3619 ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1) 189 all_cancers(10;4.66e-07)|Prostate(122;0.081) TCCTGTTCTTCGTGCTCAATG 0.587000 30 39 0 0 0.001786 0 0 AIRE 326 broad.mit.edu 37 21 45712900 45712900 + Missense_Mutation SNP G G A TCGA-BF-A1PV-01A-11D-A19A-08 TCGA-BF-A1PV-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0db1b3b6-b61c-4718-9cbf-65550d399bc7 792d1c6e-02b2-442b-a36e-d5a4afa5a6aa g.chr21:45712900G>A ENST00000291582.5 + 10 1247 c.1120G>A c.(1120-1122)Gga>Aga p.G374R AIRE_ENST00000329347.4_Missense_Mutation_p.G167R|AIRE_ENST00000355347.4_Missense_Mutation_p.G167R NM_000383.3 NP_000374.1 O43918 AIRE_HUMAN autoimmune regulator 374 positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus chromatin binding|histone binding|transcription regulatory region DNA binding|translation regulator activity|zinc ion binding breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|skin(2)|urinary_tract(1) 14 Colorectal(79;0.0806) TAGGTCGGCGGGAGAGGAGGT 0.682000 Autoimmune PolyEndocrinopathy Candidiasis Ectodermal Dystrophy 29 38 0 0 0.004289 0 0 KRTAP10-10 353333 broad.mit.edu 37 21 46058017 46058017 + Missense_Mutation SNP C C T TCGA-BF-A1PV-01A-11D-A19A-08 TCGA-BF-A1PV-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0db1b3b6-b61c-4718-9cbf-65550d399bc7 792d1c6e-02b2-442b-a36e-d5a4afa5a6aa g.chr21:46058017C>T ENST00000380095.1 + 1 745 c.683C>T c.(682-684)tCc>tTc p.S228F TSPEAR_ENST00000323084.4_Intron NM_181688.1 NP_859016.1 P60014 KR10A_HUMAN keratin associated protein 10-10 228 keratin filament NS(1)|endometrium(2)|kidney(1)|lung(6)|prostate(1)|skin(2) 13 TCCTGTGTTTCCCTCCTCTGC 0.682000 31 37 0 0 0.002836 0 0 PADI6 353238 broad.mit.edu 37 1 17706448 17706448 + RNA SNP G G A TCGA-BF-A1PV-01A-11D-A19A-08 TCGA-BF-A1PV-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0db1b3b6-b61c-4718-9cbf-65550d399bc7 792d1c6e-02b2-442b-a36e-d5a4afa5a6aa g.chr1:17706448G>A ENST00000434762.2 + 0 451 Q6TGC4 PADI6_HUMAN peptidyl arginine deiminase, type VI peptidyl-citrulline biosynthetic process from peptidyl-arginine cytoplasm|nucleus calcium ion binding|protein-arginine deiminase activity breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(2) 29 Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;7.59e-06)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.0134)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189) L-Citrulline(DB00155) TACCGCAATGGGCAAGTTGAG 0.512000 19 32 0 0 0.002299 0 0 ZNF445 353274 broad.mit.edu 37 3 44489458 44489458 + Missense_Mutation SNP G G A TCGA-BF-A1PV-01A-11D-A19A-08 TCGA-BF-A1PV-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0db1b3b6-b61c-4718-9cbf-65550d399bc7 792d1c6e-02b2-442b-a36e-d5a4afa5a6aa g.chr3:44489458G>A ENST00000425708.2 - 7 2046 c.1705C>T c.(1705-1707)Ctt>Ttt p.L569F ZNF445_ENST00000396077.2_Missense_Mutation_p.L569F P59923 ZN445_HUMAN zinc finger protein 445 569 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|skin(3) 31 KIRC - Kidney renal clear cell carcinoma(197;0.0514)|Kidney(197;0.0646) TTCAATTCAAGAAATTTCTTC 0.468000 18 41 0 0 0.008871 0 0 CEP350 9857 broad.mit.edu 37 1 180034296 180034296 + Missense_Mutation SNP C C T TCGA-BF-A1PV-01A-11D-A19A-08 TCGA-BF-A1PV-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0db1b3b6-b61c-4718-9cbf-65550d399bc7 792d1c6e-02b2-442b-a36e-d5a4afa5a6aa g.chr1:180034296C>T ENST00000367607.3 + 27 5874 c.5456C>T c.(5455-5457)cCt>cTt p.P1819L NM_014810.4 NP_055625.4 Q5VT06 CE350_HUMAN centrosomal protein 350kDa 1819 centrosome|nucleus|spindle central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 66 GCAACCAGTCCTGGTCCAACT 0.433000 7 8 0 0 0.001984 0 0 DOCK2 1794 broad.mit.edu 37 5 169116293 169116293 + Missense_Mutation SNP C C T TCGA-BF-A1PV-01A-11D-A19A-08 TCGA-BF-A1PV-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0db1b3b6-b61c-4718-9cbf-65550d399bc7 792d1c6e-02b2-442b-a36e-d5a4afa5a6aa g.chr5:169116293C>T ENST00000256935.8 + 9 879 c.799C>T c.(799-801)Cct>Tct p.P267S NM_004946.2 NP_004937.1 Q92608 DOCK2_HUMAN dedicator of cytokinesis 2 267 actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction cytoskeleton|cytosol|endomembrane system|membrane electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3) 160 Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337) Medulloblastoma(196;0.0399)|all_neural(177;0.0966) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) CCGGGGCTTCCCTAAGGAGAT 0.522000 15 16 0 0 0.004990 0 0 DLEC1 9940 broad.mit.edu 37 3 38158082 38158082 + Missense_Mutation SNP G G A TCGA-BF-A1PV-01A-11D-A19A-08 TCGA-BF-A1PV-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0db1b3b6-b61c-4718-9cbf-65550d399bc7 792d1c6e-02b2-442b-a36e-d5a4afa5a6aa g.chr3:38158082G>A ENST00000308059.6 + 28 4016 c.3995G>A c.(3994-3996)gGt>gAt p.G1332D DLEC1_ENST00000452631.2_Missense_Mutation_p.G1335D|DLEC1_ENST00000346219.3_Missense_Mutation_p.G1332D Q9Y238 DLEC1_HUMAN deleted in lung and esophageal cancer 1 1332 negative regulation of cell proliferation cytoplasm NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(3)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2) 51 KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827) ACCCCTGAGGGTGGCTGCCTC 0.627000 49 70 0 0 0.003610 0 0 CUZD1 50624 broad.mit.edu 37 10 124596504 124596504 + Silent SNP G G A TCGA-BF-A1PV-01A-11D-A19A-08 TCGA-BF-A1PV-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0db1b3b6-b61c-4718-9cbf-65550d399bc7 792d1c6e-02b2-442b-a36e-d5a4afa5a6aa g.chr10:124596504G>A ENST00000368904.1 - 7 1609 c.660C>T c.(658-660)acC>acT p.T220T CUZD1_ENST00000545804.1_Silent_p.T220T|CUZD1_ENST00000392790.1_Silent_p.T220T Q86UP6 CUZD1_HUMAN CUB and zona pellucida-like domains 1 220 CUB 2. cell cycle|cell division|cell proliferation|substrate-dependent cell migration, cell attachment to substrate|trypsinogen activation integral to membrane|transport vesicle membrane|zymogen granule membrane NS(1)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(3)|stomach(1) 39 all_neural(114;0.169)|Glioma(114;0.222) Colorectal(40;0.126)|COAD - Colon adenocarcinoma(40;0.141) GGCCAGAGTTGGTGGAGGGGC 0.458000 6 7 0 0 0.001168 0 0 COQ6 51004 broad.mit.edu 37 14 74428237 74428237 + Missense_Mutation SNP C C G TCGA-BF-A1PV-01A-11D-A19A-08 TCGA-BF-A1PV-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0db1b3b6-b61c-4718-9cbf-65550d399bc7 792d1c6e-02b2-442b-a36e-d5a4afa5a6aa g.chr14:74428237C>G ENST00000334571.2 + 10 1214 c.1174C>G c.(1174-1176)Cac>Gac p.H392D COQ6_ENST00000238709.4_Missense_Mutation_p.H317D|COQ6_ENST00000554920.1_Intron|ENTPD5_ENST00000557325.1_Intron|COQ6_ENST00000557780.1_3'UTR|COQ6_ENST00000394026.4_Missense_Mutation_p.H367D NM_182476.2 NP_872282.1 Q9Y2Z9 COQ6_HUMAN coenzyme Q6 monooxygenase 392 ubiquinone biosynthetic process mitochondrion flavin adenine dinucleotide binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NADH or NADPH as one donor, and incorporation of one atom of oxygen breast(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|upper_aerodigestive_tract(1) 16 BRCA - Breast invasive adenocarcinoma(234;0.00337) CTTGGCCCATCACCTCAGTAC 0.507000 10 22 0 0 0.000978 0 0 RPLP0P6 220717 broad.mit.edu 37 2 38709001 38709001 + RNA SNP G G A TCGA-BF-A1PV-01A-11D-A19A-08 TCGA-BF-A1PV-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0db1b3b6-b61c-4718-9cbf-65550d399bc7 792d1c6e-02b2-442b-a36e-d5a4afa5a6aa g.chr2:38709001G>A ENST00000417039.1 - 0 696 TGATGCCCAGGGAAGACAGGG 0.493000 11 5 0 0 0.001855 0 0 BTBD11 121551 broad.mit.edu 37 12 108011078 108011078 + Splice_Site SNP G G A TCGA-BF-A1PV-01A-11D-A19A-08 TCGA-BF-A1PV-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0db1b3b6-b61c-4718-9cbf-65550d399bc7 792d1c6e-02b2-442b-a36e-d5a4afa5a6aa g.chr12:108011078G>A ENST00000280758.5 + 9 2624 c.2095_splice c.e9-1 p.G699_splice BTBD11_ENST00000490090.2_Splice_Site_p.G699_splice|BTBD11_ENST00000357167.4_Splice_Site_p.G236_splice|RP11-128P10.1_ENST00000548473.1_RNA|BTBD11_ENST00000420571.2_Intron NM_001018072.1 NP_001018082.1 A6QL63 BTBDB_HUMAN BTB (POZ) domain containing 11 699 integral to membrane DNA binding NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(18)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 53 GGGCTTGCAGGAAATTTTGAG 0.502000 39 58 0 0 0.002852 0 0 ENPEP 2028 broad.mit.edu 37 4 111470779 111470779 + Missense_Mutation SNP G G A TCGA-BF-A1PV-01A-11D-A19A-08 TCGA-BF-A1PV-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0db1b3b6-b61c-4718-9cbf-65550d399bc7 792d1c6e-02b2-442b-a36e-d5a4afa5a6aa g.chr4:111470779G>A ENST00000265162.5 + 16 2663 c.2321G>A c.(2320-2322)gGg>gAg p.G774E NM_001977.3 NP_001968.3 Q07075 AMPE_HUMAN glutamyl aminopeptidase (aminopeptidase A) 774 cell migration|cell proliferation|cell-cell signaling|proteolysis integral to plasma membrane aminopeptidase activity|metalloexopeptidase activity|zinc ion binding breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(1) 54 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;0.0031) L-Glutamic Acid(DB00142) TGGCTAAATGGGACTGTAAGG 0.428000 7 3 0 0 0.001984 0 0 WFDC12 128488 broad.mit.edu 37 20 43752754 43752754 + Missense_Mutation SNP C C T TCGA-BF-A1PV-01A-11D-A19A-08 TCGA-BF-A1PV-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0db1b3b6-b61c-4718-9cbf-65550d399bc7 792d1c6e-02b2-442b-a36e-d5a4afa5a6aa g.chr20:43752754C>T ENST00000372785.3 - 2 249 c.232G>A c.(232-234)Gaa>Aaa p.E78K NM_080869.1 NP_543145.1 Q8WWY7 WFD12_HUMAN WAP four-disulfide core domain 12 78 defense response to bacterium extracellular region serine-type endopeptidase inhibitor activity endometrium(1)|large_intestine(2)|lung(2)|skin(1) 6 Myeloproliferative disorder(115;0.0122) TTACCTTCTTCCAGTTCCTTC 0.542000 7 13 0 0 0.001984 0 0 ATP1B2 482 broad.mit.edu 37 17 7557429 7557429 + Missense_Mutation SNP G G A rs139562417 TCGA-BF-A1PV-01A-11D-A19A-08 TCGA-BF-A1PV-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0db1b3b6-b61c-4718-9cbf-65550d399bc7 792d1c6e-02b2-442b-a36e-d5a4afa5a6aa g.chr17:7557429G>A ENST00000250111.4 + 4 813 c.406G>A c.(406-408)Gaa>Aaa p.E136K NM_001678.3 NP_001669.3 P14415 AT1B2_HUMAN ATPase, Na+/K+ transporting, beta 2 polypeptide 136 ATP biosynthetic process|blood coagulation|leukocyte migration integral to membrane|plasma membrane protein binding|sodium:potassium-exchanging ATPase activity p.0?(2)|p.?(1)|p.E136K(1) central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)|pancreas(1) 10 all_cancers(10;0.000178)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;2.55e-06)|READ - Rectum adenocarcinoma(115;0.168) ACGCTATTACGAACAGCCAGA 0.552000 94 150 0 0 0.003610 0 0 PRR23B 389151 broad.mit.edu 37 3 138739354 138739354 + Silent SNP C C T TCGA-BF-A1PV-01A-11D-A19A-08 TCGA-BF-A1PV-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0db1b3b6-b61c-4718-9cbf-65550d399bc7 792d1c6e-02b2-442b-a36e-d5a4afa5a6aa g.chr3:138739354C>T ENST00000329447.5 - 1 414 c.150G>A c.(148-150)ggG>ggA p.G50G MRPS22_ENST00000495075.1_Intron NM_001013650.2 NP_001013672.1 Q6ZRT6 PR23B_HUMAN proline rich 23B 50 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 CGGCCGGGTCCCCCGCCGGGT 0.751000 3 4 0 0 0.004672 0 0 BTK 695 broad.mit.edu 37 X 100608220 100608220 + Missense_Mutation SNP C C T TCGA-BF-A1PV-01A-11D-A19A-08 TCGA-BF-A1PV-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0db1b3b6-b61c-4718-9cbf-65550d399bc7 792d1c6e-02b2-442b-a36e-d5a4afa5a6aa g.chrX:100608220C>T ENST00000308731.7 - 18 2033 c.1870G>A c.(1870-1872)Gag>Aag p.E624K BTK_ENST00000372880.1_Missense_Mutation_p.E448K NM_000061.2 NP_000052.1 Q06187 BTK_HUMAN Bruton agammaglobulinemia tyrosine kinase 624 Protein kinase. calcium-mediated signaling|induction of apoptosis by extracellular signals|mesoderm development cytosol|membrane raft|nucleus|plasma membrane ATP binding|identical protein binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|phosphatidylinositol-3,4,5-trisphosphate binding breast(4)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(25)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 50 TATACCTTCTCTGAAGCCAGA 0.438000 Agammaglobulinemia, X-linked 75 95 0 0 0.003610 0 0 PSG6 5675 broad.mit.edu 37 19 43414971 43414971 + Missense_Mutation SNP T T C rs144744998 TCGA-BF-A1PV-01A-11D-A19A-08 TCGA-BF-A1PV-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0db1b3b6-b61c-4718-9cbf-65550d399bc7 792d1c6e-02b2-442b-a36e-d5a4afa5a6aa g.chr19:43414971T>C ENST00000187910.2 - 3 532 c.467A>G c.(466-468)aAc>aGc p.N156S PSG6_ENST00000402603.4_Missense_Mutation_p.N156S|PSG6_ENST00000292125.2_Missense_Mutation_p.N156S NM_001031850.3 NP_001027020.1 pregnancy specific beta-1-glycoprotein 6 p.N156S(1) central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(19)|ovary(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2) 44 Prostate(69;0.00899) CTCCCTGGGGTTTAAGTTGCT 0.527000 51 64 0 0 0.003610 0 0 GALNT13 114805 broad.mit.edu 37 2 155115593 155115593 + Missense_Mutation SNP G G A TCGA-BF-A1PV-01A-11D-A19A-08 TCGA-BF-A1PV-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0db1b3b6-b61c-4718-9cbf-65550d399bc7 792d1c6e-02b2-442b-a36e-d5a4afa5a6aa g.chr2:155115593G>A ENST00000392825.3 + 8 1484 c.917G>A c.(916-918)gGa>gAa p.G306E GALNT13_ENST00000487047.1_3'UTR|GALNT13_ENST00000409237.1_Missense_Mutation_p.G306E NM_052917.2 NP_443149.2 Q8IUC8 GLT13_HUMAN UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 13 (GalNAc-T13) 306 Catalytic subdomain B. Golgi membrane|integral to membrane polypeptide N-acetylgalactosaminyltransferase activity|sugar binding NS(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|lung(37)|ovary(3)|pancreas(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1) 65 GAAGAGATAGGAACTTACGAT 0.333000 9 18 0 0 0.006214 0 0 FRA10AC1 118924 broad.mit.edu 37 10 95430549 95430549 + Missense_Mutation SNP G G A TCGA-BF-A1PV-01A-11D-A19A-08 TCGA-BF-A1PV-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0db1b3b6-b61c-4718-9cbf-65550d399bc7 792d1c6e-02b2-442b-a36e-d5a4afa5a6aa g.chr10:95430549G>A ENST00000359204.4 - 13 1080 c.883C>T c.(883-885)Cca>Tca p.P295S FRA10AC1_ENST00000460752.1_5'UTR|FRA10AC1_ENST00000536233.1_3'UTR NM_145246.4 NP_660289.2 Q70Z53 F10C1_HUMAN fragile site, folic acid type, rare, fra(10)(q23.3) or fra(10)(q24.2) candidate 1 295 nucleus protein binding NS(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(4)|urinary_tract(1) 14 TCTGTCTCTGGTAGTGGACCC 0.323000 3 3 0 0 0.004672 0 0 ACCSL 390110 broad.mit.edu 37 11 44072947 44072947 + Missense_Mutation SNP C C T TCGA-BF-A1PV-01A-11D-A19A-08 TCGA-BF-A1PV-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0db1b3b6-b61c-4718-9cbf-65550d399bc7 792d1c6e-02b2-442b-a36e-d5a4afa5a6aa g.chr11:44072947C>T ENST00000378832.1 + 4 754 c.698C>T c.(697-699)cCa>cTa p.P233L NM_001031854.2 NP_001027025.2 Q4AC99 1A1L2_HUMAN 1-aminocyclopropane-1-carboxylate synthase homolog (Arabidopsis)(non-functional)-like 233 1-aminocyclopropane-1-carboxylate synthase activity|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(14)|ovary(5)|pancreas(1)|skin(2) 34 CGACTTGACCCAGAAAATGTG 0.572000 15 29 0 0 0.002450 0 0 NRAP 4892 broad.mit.edu 37 10 115412762 115412762 + Missense_Mutation SNP C C T TCGA-BF-A1PV-01A-11D-A19A-08 TCGA-BF-A1PV-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0db1b3b6-b61c-4718-9cbf-65550d399bc7 792d1c6e-02b2-442b-a36e-d5a4afa5a6aa g.chr10:115412762C>T ENST00000369358.4 - 6 746 c.502G>A c.(502-504)Ggg>Agg p.G168R NRAP_ENST00000369360.3_Missense_Mutation_p.G168R|NRAP_ENST00000359988.3_Missense_Mutation_p.G168R|NRAP_ENST00000360478.3_Missense_Mutation_p.G168R Q86VF7 NRAP_HUMAN nebulin-related anchoring protein 168 fascia adherens|muscle tendon junction actin binding|muscle alpha-actinin binding|zinc ion binding autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(18)|lung(39)|ovary(6)|prostate(3)|skin(1)|stomach(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 95 Colorectal(252;0.0233)|Breast(234;0.188) Epithelial(162;0.00392)|all cancers(201;0.00569) GGAAAGCTCCCCTTGCCCCTG 0.473000 20 27 0 0 0.001882 0 0 CFI 3426 broad.mit.edu 37 4 110682704 110682704 + Silent SNP G G A TCGA-BF-A1PV-01A-11D-A19A-08 TCGA-BF-A1PV-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0db1b3b6-b61c-4718-9cbf-65550d399bc7 792d1c6e-02b2-442b-a36e-d5a4afa5a6aa g.chr4:110682704G>A ENST00000394634.2 - 4 834 c.627C>T c.(625-627)ttC>ttT p.F209F CFI_ENST00000394635.3_Silent_p.F209F|CFI_ENST00000512148.1_Silent_p.F209F NM_000204.3 NP_000195.2 P05156 CFAI_HUMAN complement factor I 209 SRCR. complement activation, classical pathway|innate immune response|proteolysis extracellular space|membrane scavenger receptor activity|serine-type endopeptidase activity p.F209F(1) breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|skin(2)|stomach(1) 27 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;0.000331) CCACATCAGCGAAATCCTGGT 0.393000 12 20 0 0 0.001855 0 0 ASS1 445 broad.mit.edu 37 9 133370310 133370310 + Missense_Mutation SNP G G A TCGA-BF-A1PV-01A-11D-A19A-08 TCGA-BF-A1PV-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0db1b3b6-b61c-4718-9cbf-65550d399bc7 792d1c6e-02b2-442b-a36e-d5a4afa5a6aa g.chr9:133370310G>A ENST00000372394.1 + 14 1508 c.1027G>A c.(1027-1029)Gag>Aag p.E343K ASS1_ENST00000372393.3_Missense_Mutation_p.E343K|ASS1_ENST00000352480.5_Missense_Mutation_p.E343K P00966 ASSY_HUMAN argininosuccinate synthase 1 343 arginine biosynthetic process|urea cycle cytosol argininosuccinate synthase activity|ATP binding|protein binding breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(4)|ovary(1)|skin(1)|urinary_tract(1) 17 OV - Ovarian serous cystadenocarcinoma(145;0.000514) Adenosine triphosphate(DB00171)|L-Arginine(DB00125)|L-Aspartic Acid(DB00128)|L-Citrulline(DB00155) CAAGTCCCAGGAGCGAGTGGA 0.587000 25 17 0 0 0.005443 0 0 OASL 8638 broad.mit.edu 37 12 121471375 121471375 + Missense_Mutation SNP C C T TCGA-BF-A1PV-01A-11D-A19A-08 TCGA-BF-A1PV-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0db1b3b6-b61c-4718-9cbf-65550d399bc7 792d1c6e-02b2-442b-a36e-d5a4afa5a6aa g.chr12:121471375C>T ENST00000257570.5 - 2 640 c.370G>A c.(370-372)Gag>Aag p.E124K OASL_ENST00000339275.5_Missense_Mutation_p.E124K NM_003733.3 NP_003724.1 Q15646 OASL_HUMAN 2'-5'-oligoadenylate synthetase-like 124 interferon-gamma-mediated signaling pathway|type I interferon-mediated signaling pathway cytoplasm|nucleolus ATP binding|DNA binding|double-stranded RNA binding|thyroid hormone receptor binding|transferase activity NS(1)|endometrium(3)|large_intestine(4)|lung(4)|skin(2) 14 all_neural(191;0.0684)|Medulloblastoma(191;0.0922) CTCAGGTCCTCGAGCCCGAGG 0.577000 201 254 0 0 0.003610 0 0 SRRT 51593 broad.mit.edu 37 7 100484463 100484463 + Silent SNP G G A TCGA-BF-A1PV-01A-11D-A19A-08 TCGA-BF-A1PV-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0db1b3b6-b61c-4718-9cbf-65550d399bc7 792d1c6e-02b2-442b-a36e-d5a4afa5a6aa g.chr7:100484463G>A ENST00000388793.4 + 14 1912 c.1692G>A c.(1690-1692)ctG>ctA p.L564L SRRT_ENST00000432932.1_Silent_p.L564L|SRRT_ENST00000347433.4_Silent_p.L565L|SRRT_ENST00000457580.2_Silent_p.L565L NM_001128852.1|NM_015908.5 NP_001122324.1|NP_056992.4 Q9BXP5 SRRT_HUMAN serrate RNA effector molecule homolog (Arabidopsis) 565 cell proliferation|primary miRNA processing|response to arsenic-containing substance cytoplasm|nucleoplasm protein binding breast(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(5)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 40 CCGACTACCTGATCGAGGAAG 0.577000 23 27 0 0 0.002299 0 0 ETAA1 54465 broad.mit.edu 37 2 67631024 67631024 + Missense_Mutation SNP C C T TCGA-BF-A1PV-01A-11D-A19A-08 TCGA-BF-A1PV-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0db1b3b6-b61c-4718-9cbf-65550d399bc7 792d1c6e-02b2-442b-a36e-d5a4afa5a6aa g.chr2:67631024C>T ENST00000272342.5 + 5 1340 c.1210C>T c.(1210-1212)Cct>Tct p.P404S ETAA1_ENST00000462772.1_Intron NM_019002.3 NP_061875.2 Q9NY74 ETAA1_HUMAN Ewing tumor-associated antigen 1 404 cytoplasm|nucleus autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(9)|ovary(3)|prostate(1)|stomach(3)|urinary_tract(1) 33 TGAACTCTTTCCTTCTAAAAC 0.353000 8 16 0 0 0.003080 0 0 TTN 7273 broad.mit.edu 37 2 179406269 179406269 + Missense_Mutation SNP G G A TCGA-BF-A1PV-01A-11D-A19A-08 TCGA-BF-A1PV-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0db1b3b6-b61c-4718-9cbf-65550d399bc7 792d1c6e-02b2-442b-a36e-d5a4afa5a6aa g.chr2:179406269G>A ENST00000589042.1 - 350 97759 c.97535C>T c.(97534-97536)tCc>tTc p.S32512F TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.S30871F|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000585451.1_RNA|RP11-65L3.4_ENST00000604692.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.S23447F|TTN_ENST00000342992.6_Missense_Mutation_p.S29944F|TTN_ENST00000342175.6_Missense_Mutation_p.S23639F|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.S23572F NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 30871 Ig-like 143. 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) GCCATCACGGGAAACATCAAA 0.453000 6 1 0 0 0.001168 0 0 MUC16 94025 broad.mit.edu 37 19 9075901 9075901 + Missense_Mutation SNP T T C TCGA-BF-A1PV-01A-11D-A19A-08 TCGA-BF-A1PV-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0db1b3b6-b61c-4718-9cbf-65550d399bc7 792d1c6e-02b2-442b-a36e-d5a4afa5a6aa g.chr19:9075901T>C ENST00000397910.4 - 3 11748 c.11545A>G c.(11545-11547)Act>Gct p.T3849A NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 3850 Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 CTCTGAAAAGTTGCATCTGGA 0.498000 11 26 0 0 0.000978 0 0 TLR2 7097 broad.mit.edu 37 4 154625293 154625293 + Silent SNP C C T TCGA-BF-A1PV-01A-11D-A19A-08 TCGA-BF-A1PV-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0db1b3b6-b61c-4718-9cbf-65550d399bc7 792d1c6e-02b2-442b-a36e-d5a4afa5a6aa g.chr4:154625293C>T ENST00000260010.6 + 1 2642 c.1234C>T c.(1234-1236)Ctg>Ttg p.L412L NM_003264.3 NP_003255.2 O60603 TLR2_HUMAN toll-like receptor 2 412 cellular response to diacyl bacterial lipopeptide|cellular response to lipoteichoic acid|cellular response to triacyl bacterial lipopeptide|detection of diacyl bacterial lipopeptide|detection of triacyl bacterial lipopeptide|I-kappaB phosphorylation|induction of apoptosis|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of chemokine production|positive regulation of interferon-beta production|positive regulation of interleukin-12 production|positive regulation of interleukin-18 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|positive regulation of Wnt receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway cytoplasm|integral to plasma membrane|Toll-like receptor 1-Toll-like receptor 2 protein complex Gram-positive bacterial cell surface binding|lipopolysaccharide receptor activity|peptidoglycan binding|protein heterodimerization activity|transmembrane receptor activity|triacyl lipopeptide binding breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1) 29 all_hematologic(180;0.093) Renal(120;0.117) TTTGCTCACTCTGAAAAACTT 0.368000 6 13 0 0 0.003080 0 0 UNC5CL 222643 broad.mit.edu 37 6 40999785 40999785 + Silent SNP C C T TCGA-BF-A1PV-01A-11D-A19A-08 TCGA-BF-A1PV-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0db1b3b6-b61c-4718-9cbf-65550d399bc7 792d1c6e-02b2-442b-a36e-d5a4afa5a6aa g.chr6:40999785C>T ENST00000244565.3 - 5 1129 c.1041G>A c.(1039-1041)cgG>cgA p.R347R UNC5CL_ENST00000373164.1_Silent_p.R347R|UNC5CL_ENST00000470102.1_5'UTR NM_173561.2 NP_775832.2 Q8IV45 UN5CL_HUMAN unc-5 homolog C (C. elegans)-like 347 Interaction with RELA and NFKB1. signal transduction cytoplasm|integral to membrane endometrium(1)|kidney(3)|large_intestine(3)|lung(3)|ovary(2)|upper_aerodigestive_tract(1) 13 Ovarian(28;0.0418)|Colorectal(47;0.196) CTGCTTTTCTCCGGAAGCAGA 0.577000 21 57 0 0 0.002299 0 0 NLRP3 114548 broad.mit.edu 37 1 247599429 247599429 + Silent SNP C C T TCGA-BF-A1PV-01A-11D-A19A-08 TCGA-BF-A1PV-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0db1b3b6-b61c-4718-9cbf-65550d399bc7 792d1c6e-02b2-442b-a36e-d5a4afa5a6aa g.chr1:247599429C>T ENST00000336119.3 + 6 3402 c.2656C>T c.(2656-2658)Ctg>Ttg p.L886L NLRP3_ENST00000348069.2_Intron|NLRP3_ENST00000366497.2_Intron|NLRP3_ENST00000366496.2_Intron|NLRP3_ENST00000391828.3_Silent_p.L886L|NLRP3_ENST00000391827.2_Silent_p.L829L NM_001127462.2|NM_001243133.1|NM_004895.4 NP_001120934.1|NP_001230062.1|NP_004886.3 Q96P20 NALP3_HUMAN NLR family, pyrin domain containing 3 886 detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction cytoplasm ATP binding|peptidoglycan binding|protein binding NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 142 all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) all_cancers(173;0.0172) OV - Ovarian serous cystadenocarcinoma(106;0.0141) ACAGTGTAACCTGCAGAAACT 0.453000 17 17 0 0 0.008871 0 0 HSPA1L 3305 broad.mit.edu 37 6 31779021 31779021 + Silent SNP G G A rs140616297 byFrequency TCGA-BF-A1PV-01A-11D-A19A-08 TCGA-BF-A1PV-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0db1b3b6-b61c-4718-9cbf-65550d399bc7 792d1c6e-02b2-442b-a36e-d5a4afa5a6aa g.chr6:31779021G>A ENST00000375654.4 - 2 918 c.729C>T c.(727-729)ttC>ttT p.F243F HSPA1L_ENST00000417199.3_Silent_p.F243F NM_005527.3 NP_005518.3 P34931 HS71L_HUMAN heat shock 70kDa protein 1-like 243 response to unfolded protein ATP binding breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(10)|ovary(3)|pleura(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 34 ACTCCTCCACGAAGTGGCTCA 0.557000 244 522 0 0 0.003610 0 0 ITFG3 83986 broad.mit.edu 37 16 314898 314898 + Silent SNP C C T TCGA-BF-A1PV-01A-11D-A19A-08 TCGA-BF-A1PV-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0db1b3b6-b61c-4718-9cbf-65550d399bc7 792d1c6e-02b2-442b-a36e-d5a4afa5a6aa g.chr16:314898C>T ENST00000399932.3 + 13 1987 c.1536C>T c.(1534-1536)atC>atT p.I512I ITFG3_ENST00000600536.1_Intron|ITFG3_ENST00000301679.2_Silent_p.I512I|ITFG3_ENST00000450082.2_Silent_p.I512I|ITFG3_ENST00000301678.3_Silent_p.I512I|ITFG3_ENST00000442458.2_Intron Q9H0X4 ITFG3_HUMAN integrin alpha FG-GAP repeat containing 3 512 integral to membrane central_nervous_system(3)|endometrium(2)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 16 all_cancers(16;0.000129)|all_epithelial(16;0.000206)|Hepatocellular(16;0.00264)|Lung NSC(18;0.0626)|all_lung(18;0.13) TCTCTGTGATCAAGCACAAGG 0.662000 32 32 0 0 0.001786 0 0 LST3 0 broad.mit.edu 37 12 21196326 21196326 + Silent SNP C C T TCGA-BF-A1PV-01A-11D-A19A-08 TCGA-BF-A1PV-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0db1b3b6-b61c-4718-9cbf-65550d399bc7 792d1c6e-02b2-442b-a36e-d5a4afa5a6aa g.chr12:21196326C>T ENST00000381541.3 + 7 851 c.786C>T c.(784-786)ttC>ttT p.F262F SLCO1B7_ENST00000421593.2_Silent_p.F215F|SLCO1B7_ENST00000554957.1_Silent_p.F262F|SLCO1B3_ENST00000553473.1_Intron|LST3_ENST00000540229.1_Intron GGCTTGGTTTCCTTGTGTCTG 0.353000 5 11 0 0 0.000602 0 0 PTK6 5753 broad.mit.edu 37 20 62162165 62162165 + Silent SNP C C T TCGA-BF-A1PV-01A-11D-A19A-08 TCGA-BF-A1PV-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0db1b3b6-b61c-4718-9cbf-65550d399bc7 792d1c6e-02b2-442b-a36e-d5a4afa5a6aa g.chr20:62162165C>T ENST00000217185.2 - 6 975 c.948G>A c.(946-948)agG>agA p.R316R PTK6_ENST00000542869.1_Silent_p.R215R NM_005975.3 NP_005966.1 Q13882 PTK6_HUMAN protein tyrosine kinase 6 316 Protein kinase. cytoplasm|nucleus ATP binding|non-membrane spanning protein tyrosine kinase activity endometrium(3)|kidney(1)|lung(5)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 15 all_cancers(38;2.51e-11) Epithelial(9;1.5e-08)|all cancers(9;8.67e-08)|BRCA - Breast invasive adenocarcinoma(10;6.43e-06) CGAGGATGTTCCTGGCGGCCA 0.617000 34 17 0 0 0.003755 0 0 LZTR1 8216 broad.mit.edu 37 22 21346528 21346528 + Missense_Mutation SNP G G A TCGA-BF-A1PV-01A-11D-A19A-08 TCGA-BF-A1PV-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0db1b3b6-b61c-4718-9cbf-65550d399bc7 792d1c6e-02b2-442b-a36e-d5a4afa5a6aa g.chr22:21346528G>A ENST00000215739.8 + 10 1378 c.1019G>A c.(1018-1020)cGa>cAa p.R340Q LZTR1_ENST00000389355.3_Missense_Mutation_p.R321Q|LZTR1_ENST00000479606.1_3'UTR NM_006767.3 NP_006758.2 Q8N653 LZTR1_HUMAN leucine-zipper-like transcription regulator 1 340 anatomical structure morphogenesis sequence-specific DNA binding transcription factor activity breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(13)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3) 42 all_cancers(11;1.83e-25)|all_epithelial(7;9.19e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142) Lung SC(17;0.0262) LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195) GTGCCCGAGCGAGCCTGTGCT 0.612000 33 39 0 0 0.003755 0 0 TTC7A 57217 broad.mit.edu 37 2 47249053 47249053 + Missense_Mutation SNP C C T TCGA-BF-A1PV-01A-11D-A19A-08 TCGA-BF-A1PV-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0db1b3b6-b61c-4718-9cbf-65550d399bc7 792d1c6e-02b2-442b-a36e-d5a4afa5a6aa g.chr2:47249053C>T ENST00000319190.5 + 12 1813 c.1445C>T c.(1444-1446)gCc>gTc p.A482V TTC7A_ENST00000461601.1_3'UTR|TTC7A_ENST00000409245.1_Missense_Mutation_p.A448V|TTC7A_ENST00000394850.2_Missense_Mutation_p.A482V|TTC7A_ENST00000263737.6_Missense_Mutation_p.A128V NM_020458.2 NP_065191.2 Q9ULT0 TTC7A_HUMAN tetratricopeptide repeat domain 7A 482 binding breast(4)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 25 all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18) Lung(47;0.0792)|LUSC - Lung squamous cell carcinoma(58;0.114) GGAGAGGAAGCCGGGGAGTTC 0.607000 39 45 0 0 0.007835 0 0 DSP 1832 broad.mit.edu 37 6 7584329 7584329 + Missense_Mutation SNP G G A TCGA-BF-A1PV-01A-11D-A19A-08 TCGA-BF-A1PV-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0db1b3b6-b61c-4718-9cbf-65550d399bc7 792d1c6e-02b2-442b-a36e-d5a4afa5a6aa g.chr6:7584329G>A ENST00000379802.3 + 24 7175 c.6834G>A c.(6832-6834)atG>atA p.M2278I DSP_ENST00000418664.2_Missense_Mutation_p.M1679I NM_004415.2 NP_004406.2 P15924 DESP_HUMAN desmoplakin 2278 Globular 2. cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking cornified envelope|cytoplasm|desmosome protein binding, bridging|structural constituent of cytoskeleton biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5) 101 Ovarian(93;0.0584) all_hematologic(90;0.236) OV - Ovarian serous cystadenocarcinoma(45;0.000508) ATGAGGCCATGAAAATTGGCT 0.473000 30 81 0 0 0.008361 0 0 ELAVL2 1993 broad.mit.edu 37 9 23765034 23765034 + Silent SNP A A G TCGA-BF-A1PV-01A-11D-A19A-08 TCGA-BF-A1PV-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0db1b3b6-b61c-4718-9cbf-65550d399bc7 792d1c6e-02b2-442b-a36e-d5a4afa5a6aa g.chr9:23765034A>G ENST00000380110.4 - 2 112 c.45T>C c.(43-45)ggT>ggC p.G15G ELAVL2_ENST00000397312.2_Intron|ELAVL2_ENST00000380117.1_Intron|ELAVL2_ENST00000223951.6_Intron|ELAVL2_ENST00000544538.1_Intron Q12926 ELAV2_HUMAN ELAV like neuron-specific RNA binding protein 2 0 regulation of transcription, DNA-dependent mRNA 3'-UTR binding|nucleotide binding|protein binding breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|skin(1)|stomach(1)|urinary_tract(1) 39 GBM - Glioblastoma multiforme(1;2.18e-156)|Lung(42;2.15e-28)|LUSC - Lung squamous cell carcinoma(38;1.02e-19) CTGCCCACGAACCACTTCTAA 0.468000 4 8 0 0 0.000248 0 0 SBF1 6305 broad.mit.edu 37 22 50898538 50898538 + Missense_Mutation SNP G G A TCGA-BF-A1PV-01A-11D-A19A-08 TCGA-BF-A1PV-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0db1b3b6-b61c-4718-9cbf-65550d399bc7 792d1c6e-02b2-442b-a36e-d5a4afa5a6aa g.chr22:50898538G>A ENST00000380817.2 - 26 3517 c.3334C>T c.(3334-3336)Ccc>Tcc p.P1112S SBF1_ENST00000390679.3_Missense_Mutation_p.P1112S|SBF1_ENST00000348911.6_Missense_Mutation_p.P1113S NM_002972.2 NP_002963.2 O95248 MTMR5_HUMAN SET binding factor 1 1112 protein dephosphorylation integral to membrane|nucleus protein tyrosine/serine/threonine phosphatase activity breast(1)|central_nervous_system(2)|endometrium(6)|kidney(8)|large_intestine(3)|lung(18)|ovary(3)|skin(1)|upper_aerodigestive_tract(1) 43 all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113) BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247) CGGTCGGAGGGCTTCAGGGCT 0.692000 14 27 0 0 0.003163 0 0 OR6N1 128372 broad.mit.edu 37 1 158736021 158736021 + Missense_Mutation SNP C C T TCGA-BF-A1PV-01A-11D-A19A-08 TCGA-BF-A1PV-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0db1b3b6-b61c-4718-9cbf-65550d399bc7 792d1c6e-02b2-442b-a36e-d5a4afa5a6aa g.chr1:158736021C>T ENST00000335094.2 - 1 471 c.452G>A c.(451-453)gGa>gAa p.G151E NM_001005185.1 NP_001005185.1 Q8NGY5 OR6N1_HUMAN olfactory receptor, family 6, subfamily N, member 1 151 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 54 all_hematologic(112;0.0378) AGCCAAGCCTCCCAACCAACA 0.532000 6 5 0 0 0.001984 0 0 GARS 2617 broad.mit.edu 37 7 30668228 30668228 + Silent SNP C C T TCGA-BF-A1PV-01A-11D-A19A-08 TCGA-BF-A1PV-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0db1b3b6-b61c-4718-9cbf-65550d399bc7 792d1c6e-02b2-442b-a36e-d5a4afa5a6aa g.chr7:30668228C>T ENST00000389266.3 + 14 1993 c.1752C>T c.(1750-1752)atC>atT p.I584I NM_002047.2 NP_002038.2 P41250 SYG_HUMAN glycyl-tRNA synthetase 584 cell death|diadenosine tetraphosphate biosynthetic process|glycyl-tRNA aminoacylation cytosol|mitochondrial matrix|soluble fraction ATP binding|glycine-tRNA ligase activity|protein dimerization activity breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|skin(3)|urinary_tract(1) 24 Glycine(DB00145) TGGGTAGGATCATGTATACGG 0.368000 16 33 0 0 0.004990 0 0 LGALS9C 654346 broad.mit.edu 37 17 18392260 18392260 + Silent SNP C C T TCGA-BF-A1PV-01A-11D-A19A-08 TCGA-BF-A1PV-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0db1b3b6-b61c-4718-9cbf-65550d399bc7 792d1c6e-02b2-442b-a36e-d5a4afa5a6aa g.chr17:18392260C>T ENST00000328114.6 + 5 531 c.450C>T c.(448-450)ccC>ccT p.P150P LGALS9C_ENST00000584941.1_Intron|LGALS9C_ENST00000581545.1_Intron|LGALS9C_ENST00000583322.1_Intron|LGALS9C_ENST00000412421.2_Silent_p.P62P NM_001040078.2 NP_001035167.2 Q6DKI2 LEG9C_HUMAN lectin, galactoside-binding, soluble, 9C 150 sugar binding NS(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(2) 7 AACAGAATCCCCGCGCAGTCC 0.582000 11 37 0 0 0.000978 0 0 NEBL 10529 broad.mit.edu 37 10 21097441 21097441 + Missense_Mutation SNP C C T TCGA-BF-A1PV-01A-11D-A19A-08 TCGA-BF-A1PV-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0db1b3b6-b61c-4718-9cbf-65550d399bc7 792d1c6e-02b2-442b-a36e-d5a4afa5a6aa g.chr10:21097441C>T ENST00000377122.4 - 26 3155 c.2759G>A c.(2758-2760)gGa>gAa p.G920E NEBL_ENST00000417816.2_Intron|NEBL_ENST00000377159.4_Intron NM_006393.2 NP_006384.1 O76041 NEBL_HUMAN nebulette 920 Linker. regulation of actin filament length actin binding|structural constituent of muscle NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(2) 70 TTTGATACCTCCTTCATCAGA 0.393000 7 8 0 0 0.006214 0 0 OR2T3 343173 broad.mit.edu 37 1 248637593 248637593 + Missense_Mutation SNP G G A TCGA-BF-A1PV-01A-11D-A19A-08 TCGA-BF-A1PV-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0db1b3b6-b61c-4718-9cbf-65550d399bc7 792d1c6e-02b2-442b-a36e-d5a4afa5a6aa g.chr1:248637593G>A ENST00000359594.2 + 1 967 c.942G>A c.(940-942)atG>atA p.M314I NM_001005495.1 NP_001005495.1 Q8NH03 OR2T3_HUMAN olfactory receptor, family 2, subfamily T, member 3 314 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2)|endometrium(5)|lung(19)|ovary(1)|prostate(1)|skin(3) 31 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) AGTCAAGAATGAACCAAGAAA 0.488000 26 74 0 0 0.005443 0 0 PRUNE2 158471 broad.mit.edu 37 9 79321264 79321264 + Missense_Mutation SNP G G A TCGA-BF-A1PV-01A-11D-A19A-08 TCGA-BF-A1PV-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0db1b3b6-b61c-4718-9cbf-65550d399bc7 792d1c6e-02b2-442b-a36e-d5a4afa5a6aa g.chr9:79321264G>A ENST00000428286.1 - 8 6049 c.4849C>T c.(4849-4851)Cac>Tac p.H1617Y PRUNE2_ENST00000376718.3_Missense_Mutation_p.H1976Y Q8WUY3 PRUN2_HUMAN prune homolog 2 (Drosophila) 1976 apoptosis|G1 phase|induction of apoptosis cytoplasm metal ion binding|pyrophosphatase activity endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1) 16 TCCTCTGCGTGAGTAAAGGCT 0.453000 9 25 0 0 0.008291 0 0 MTBP 27085 broad.mit.edu 37 8 121502730 121502730 + Missense_Mutation SNP C C T TCGA-BF-A1PV-01A-11D-A19A-08 TCGA-BF-A1PV-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0db1b3b6-b61c-4718-9cbf-65550d399bc7 792d1c6e-02b2-442b-a36e-d5a4afa5a6aa g.chr8:121502730C>T ENST00000305949.1 + 13 1412 c.1367C>T c.(1366-1368)cCa>cTa p.P456L NM_022045.3 NP_071328.2 Q96DY7 MTBP_HUMAN Mdm2, transformed 3T3 cell double minute 2, p53 binding protein (mouse) binding protein, 104kDa 456 cell cycle arrest NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 30 Lung NSC(37;5.68e-08)|Ovarian(258;0.00769)|all_neural(195;0.0804)|Hepatocellular(40;0.161) STAD - Stomach adenocarcinoma(47;0.00503) TTATCACTTCCACATTTTTCT 0.348000 7 7 0 0 0.001984 0 0 CSMD3 114788 broad.mit.edu 37 8 114185975 114185975 + Missense_Mutation SNP C C T TCGA-BF-A1PV-01A-11D-A19A-08 TCGA-BF-A1PV-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0db1b3b6-b61c-4718-9cbf-65550d399bc7 792d1c6e-02b2-442b-a36e-d5a4afa5a6aa g.chr8:114185975C>T ENST00000297405.5 - 4 929 c.685G>A c.(685-687)Gat>Aat p.D229N CSMD3_ENST00000455883.2_Missense_Mutation_p.D229N|CSMD3_ENST00000519485.1_5'UTR|CSMD3_ENST00000352409.3_Missense_Mutation_p.D229N|CSMD3_ENST00000343508.3_Missense_Mutation_p.D189N NM_198123.1 NP_937756.1 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 229 Sushi 1. integral to membrane|plasma membrane p.D229N(1) 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 ACAGGAAAATCCCACGAAGCT 0.428000 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 14 28 0 0 0.006122 0 0 TACR3 6870 broad.mit.edu 37 4 104511123 104511123 + Missense_Mutation SNP G G A TCGA-BF-A1PV-01A-11D-A19A-08 TCGA-BF-A1PV-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0db1b3b6-b61c-4718-9cbf-65550d399bc7 792d1c6e-02b2-442b-a36e-d5a4afa5a6aa g.chr4:104511123G>A ENST00000304883.2 - 5 1254 c.1114C>T c.(1114-1116)Cgc>Tgc p.R372C RP11-297P16.3_ENST00000512401.1_RNA|RP11-297P16.3_ENST00000502936.1_RNA NM_001059.2 NP_001050.1 P29371 NK3R_HUMAN tachykinin receptor 3 372 integral to plasma membrane tachykinin receptor activity breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 51 Hepatocellular(203;0.217) UCEC - Uterine corpus endometrioid carcinoma (10;0.22)|OV - Ovarian serous cystadenocarcinoma(123;3.4e-08) GGACACCAGCGAAATGCTCTC 0.448000 8 5 0 0 0.003080 0 0 HUWE1 10075 broad.mit.edu 37 X 53612009 53612009 + Missense_Mutation SNP C C T TCGA-BF-A1PV-01A-11D-A19A-08 TCGA-BF-A1PV-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0db1b3b6-b61c-4718-9cbf-65550d399bc7 792d1c6e-02b2-442b-a36e-d5a4afa5a6aa g.chrX:53612009C>T ENST00000342160.3 - 39 5421 c.4964G>A c.(4963-4965)cGa>cAa p.R1655Q HUWE1_ENST00000262854.6_Missense_Mutation_p.R1655Q|HUWE1_ENST00000218328.8_Missense_Mutation_p.R1655Q Q7Z6Z7 HUWE1_HUMAN HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase 1655 WWE. 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 GTATCTTCTTCGGCCTGCAGT 0.507000 40 54 0 0 0.002852 0 0 XDH 7498 broad.mit.edu 37 2 31599976 31599976 + Missense_Mutation SNP C C T TCGA-BF-A1PV-01A-11D-A19A-08 TCGA-BF-A1PV-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0db1b3b6-b61c-4718-9cbf-65550d399bc7 792d1c6e-02b2-442b-a36e-d5a4afa5a6aa g.chr2:31599976C>T ENST00000379416.3 - 14 1418 c.1370G>A c.(1369-1371)gGt>gAt p.G457D NM_000379.3 NP_000370.2 P47989 XDH_HUMAN xanthine dehydrogenase 457 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) GGCCATTCCACCATAGCAAAG 0.507000 35 42 0 0 0.004289 0 0 WASH4P 374677 broad.mit.edu 37 16 66940 66940 + Silent SNP G G A TCGA-BF-A1PV-01A-11D-A19A-08 TCGA-BF-A1PV-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0db1b3b6-b61c-4718-9cbf-65550d399bc7 792d1c6e-02b2-442b-a36e-d5a4afa5a6aa g.chr16:66940G>A ENST00000326592.9 - 5 1354 c.696C>T c.(694-696)agC>agT p.S232S p.S232S(1) GCTCTCTCTTGCTGATGGACA 0.597000 5 34 0 0 0.003080 0 0 RYR1 6261 broad.mit.edu 37 19 39071102 39071102 + Silent SNP G G A rs118192169 TCGA-BF-A1PV-01A-11D-A19A-08 TCGA-BF-A1PV-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0db1b3b6-b61c-4718-9cbf-65550d399bc7 792d1c6e-02b2-442b-a36e-d5a4afa5a6aa g.chr19:39071102G>A ENST00000355481.4 + 100 14720 c.14589G>A c.(14587-14589)gaG>gaA p.E4863E RYR1_ENST00000360985.3_Silent_p.E4863E|RYR1_ENST00000359596.3_Silent_p.E4868E NM_000540.2|NM_001042723.1 NP_000531.2|NP_001036188.1 P21817 RYR1_HUMAN ryanodine receptor 1 (skeletal) 4868 FYNKSED -> Y (in CCD). 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) ACAAGAGCGAGGATGAGGATG 0.557000 34 46 0 0 0.006230 0 0 TYW1B 441250 broad.mit.edu 37 7 72209570 72209570 + RNA SNP G G A TCGA-BF-A1PV-01A-11D-A19A-08 TCGA-BF-A1PV-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0db1b3b6-b61c-4718-9cbf-65550d399bc7 792d1c6e-02b2-442b-a36e-d5a4afa5a6aa g.chr7:72209570G>A ENST00000438125.1 - 0 585 Q6NUM6 TYW1B_HUMAN tRNA-yW synthesizing protein 1 homolog B (S. cerevisiae) tRNA processing 4 iron, 4 sulfur cluster binding|FMN binding|iron ion binding|oxidoreductase activity CTCTCCCTCGGAGCATCGACT 0.418000 9 16 0 0 0.004482 0 0 PDE4C 5143 broad.mit.edu 37 19 18327582 18327582 + Missense_Mutation SNP C C T TCGA-BF-A1PV-01A-11D-A19A-08 TCGA-BF-A1PV-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0db1b3b6-b61c-4718-9cbf-65550d399bc7 792d1c6e-02b2-442b-a36e-d5a4afa5a6aa g.chr19:18327582C>T ENST00000355502.3 - 16 2325 c.1454G>A c.(1453-1455)cGa>cAa p.R485Q PDE4C_ENST00000539010.1_Missense_Mutation_p.R254Q|PDE4C_ENST00000594617.2_Missense_Mutation_p.R485Q|AC068499.10_ENST00000594805.2_RNA|PDE4C_ENST00000447275.2_Missense_Mutation_p.R379Q|PDE4C_ENST00000262805.11_Missense_Mutation_p.R453Q|PDE4C_ENST00000594465.2_Missense_Mutation_p.R485Q Q08493 PDE4C_HUMAN phosphodiesterase 4C, cAMP-specific 485 signal transduction cytosol 3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 33 Dyphylline(DB00651) CAGACTCAGTCGCTGCTTGGC 0.612000 55 49 0 0 0.003610 0 0 MTMR7 9108 broad.mit.edu 37 8 17161938 17161938 + Silent SNP C C T TCGA-BF-A1PV-01A-11D-A19A-08 TCGA-BF-A1PV-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0db1b3b6-b61c-4718-9cbf-65550d399bc7 792d1c6e-02b2-442b-a36e-d5a4afa5a6aa g.chr8:17161938C>T ENST00000180173.5 - 12 1477 c.1443G>A c.(1441-1443)caG>caA p.Q481Q MTMR7_ENST00000521857.1_Silent_p.Q481Q|MTMR7_ENST00000398099.3_Silent_p.Q72Q NM_004686.4 NP_004677.3 Q9Y216 MTMR7_HUMAN myotubularin related protein 7 481 Myotubularin phosphatase. 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) TTCCCTGAGTCTGGCTGTGAT 0.428000 7 27 0 0 0.008291 0 0 SAMD7 344658 broad.mit.edu 37 3 169654200 169654200 + Missense_Mutation SNP G G A TCGA-BF-A1PV-01A-11D-A19A-08 TCGA-BF-A1PV-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0db1b3b6-b61c-4718-9cbf-65550d399bc7 792d1c6e-02b2-442b-a36e-d5a4afa5a6aa g.chr3:169654200G>A ENST00000428432.2 + 8 1504 c.1115G>A c.(1114-1116)gGa>gAa p.G372E SAMD7_ENST00000335556.3_Missense_Mutation_p.G372E NM_182610.2 NP_872416.1 Q7Z3H4 SAMD7_HUMAN sterile alpha motif domain containing 7 372 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) GGCACTATGGGATTAAAGCTA 0.343000 6 19 0 0 0.004482 0 0 C2orf71 388939 broad.mit.edu 37 2 29287774 29287774 + Silent SNP G G A TCGA-BF-A1PV-01A-11D-A19A-08 TCGA-BF-A1PV-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0db1b3b6-b61c-4718-9cbf-65550d399bc7 792d1c6e-02b2-442b-a36e-d5a4afa5a6aa g.chr2:29287774G>A ENST00000331664.5 - 2 3827 c.3828C>T c.(3826-3828)tcC>tcT p.S1276S NM_001029883.2 NP_001025054.1 A6NGG8 CB071_HUMAN chromosome 2 open reading frame 71 1276 response to stimulus|visual perception photoreceptor outer segment NS(2)|breast(5)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(2)|prostate(6)|skin(3)|stomach(1) 60 CCTCTGGCTGGGATTTGTCCT 0.657000 9 14 0 0 0.000978 0 0 TENM3 55714 broad.mit.edu 37 4 183522201 183522201 + Silent SNP G G A TCGA-BF-A1PV-01A-11D-A19A-08 TCGA-BF-A1PV-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0db1b3b6-b61c-4718-9cbf-65550d399bc7 792d1c6e-02b2-442b-a36e-d5a4afa5a6aa g.chr4:183522201G>A ENST00000511685.1 + 4 759 c.636G>A c.(634-636)agG>agA p.R212R TENM3_ENST00000406950.2_Silent_p.R212R teneurin transmembrane protein 3 CCAATAGAAGGAACCAGAGTC 0.587000 58 79 0 0 0.003610 0 0 POTEF 728378 broad.mit.edu 37 2 130832275 130832275 + Missense_Mutation SNP C C T TCGA-BF-A1PV-01A-11D-A19A-08 TCGA-BF-A1PV-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0db1b3b6-b61c-4718-9cbf-65550d399bc7 792d1c6e-02b2-442b-a36e-d5a4afa5a6aa g.chr2:130832275C>T ENST00000357462.5 - 15 2863 c.2770G>A c.(2770-2772)Gag>Aag p.E924K POTEF_ENST00000409914.2_Missense_Mutation_p.E924K A5A3E0 POTEF_HUMAN POTE ankyrin domain family, member F 924 Actin-like. cell cortex ATP binding breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(4)|lung(28)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(1) 53 ATCTCCTGCTCGAAGTCCAGG 0.592000 13 31 0 0 0.003163 0 0 NLGN4X 57502 broad.mit.edu 37 X 5811554 5811554 + Silent SNP C C T TCGA-BF-A1PV-01A-11D-A19A-08 TCGA-BF-A1PV-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0db1b3b6-b61c-4718-9cbf-65550d399bc7 792d1c6e-02b2-442b-a36e-d5a4afa5a6aa g.chrX:5811554C>T ENST00000381095.3 - 6 2382 c.1755G>A c.(1753-1755)acG>acA p.T585T NLGN4X_ENST00000381093.2_Silent_p.T605T|NLGN4X_ENST00000381092.1_Silent_p.T585T|NLGN4X_ENST00000538097.1_Silent_p.T585T|NLGN4X_ENST00000275857.6_Silent_p.T585T NM_181332.1 NP_851849.1 Q8N0W4 NLGNX_HUMAN neuroligin 4, X-linked 585 brainstem development|cell adhesion|cell-cell junction organization|cerebellum development|male courtship behavior|positive regulation of organ growth|regulation of excitatory postsynaptic membrane potential|social behavior|synapse assembly|territorial aggressive behavior|vocalization behavior cell surface|dendrite|integral to plasma membrane|synapse chloride ion binding|neurexin binding|protein homodimerization activity|receptor activity p.T585T(2) breast(1)|cervix(2)|endometrium(4)|large_intestine(21)|lung(39)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1) 81 AAGCCACTTTCGTTGCCCGGT 0.463000 35 13 0 0 0.007835 0 0 PRAMEF2 65122 broad.mit.edu 37 1 12919002 12919002 + Silent SNP G G A TCGA-BF-A1PV-01A-11D-A19A-08 TCGA-BF-A1PV-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0db1b3b6-b61c-4718-9cbf-65550d399bc7 792d1c6e-02b2-442b-a36e-d5a4afa5a6aa g.chr1:12919002G>A ENST00000240189.2 + 2 225 c.138G>A c.(136-138)agG>agA p.R46R NM_023014.1 NP_075390.1 O60811 PRAM2_HUMAN PRAME family member 2 46 breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(22)|prostate(6)|skin(3)|upper_aerodigestive_tract(4) 42 Ovarian(185;0.249) Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731) UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;2.4e-06)|Kidney(185;4.89e-05)|COAD - Colon adenocarcinoma(227;0.000152)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649) CCTTCAGCAGGAGACACTTCC 0.592000 23 58 0 0 0.002299 0 0 ZMIZ2 83637 broad.mit.edu 37 7 44806095 44806095 + Missense_Mutation SNP C C T TCGA-BF-A1PV-01A-11D-A19A-08 TCGA-BF-A1PV-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0db1b3b6-b61c-4718-9cbf-65550d399bc7 792d1c6e-02b2-442b-a36e-d5a4afa5a6aa g.chr7:44806095C>T ENST00000309315.4 + 18 2611 c.2488C>T c.(2488-2490)Cct>Tct p.P830S ZMIZ2_ENST00000463931.1_3'UTR|ZMIZ2_ENST00000265346.7_Missense_Mutation_p.P804S|ZMIZ2_ENST00000441627.1_Missense_Mutation_p.P830S|ZMIZ2_ENST00000433667.1_Missense_Mutation_p.P798S|ZMIZ2_ENST00000413916.1_Missense_Mutation_p.P772S NM_031449.3 NP_113637.3 Q8NF64 ZMIZ2_HUMAN zinc finger, MIZ-type containing 2 830 Pro-rich. positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nuclear replication fork ligand-dependent nuclear receptor transcription coactivator activity|protein binding|zinc ion binding breast(3)|endometrium(2)|kidney(3)|large_intestine(6)|lung(10)|ovary(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 35 CCTTGGGGCCCCTCCAGGTCC 0.597000 52 59 0 0 0.003610 0 0 BRINP2 57795 broad.mit.edu 37 1 177226513 177226513 + Missense_Mutation SNP C C T TCGA-BF-A1PV-01A-11D-A19A-08 TCGA-BF-A1PV-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0db1b3b6-b61c-4718-9cbf-65550d399bc7 792d1c6e-02b2-442b-a36e-d5a4afa5a6aa g.chr1:177226513C>T ENST00000361539.4 + 4 974 c.662C>T c.(661-663)gCc>gTc p.A221V FAM5B_ENST00000478325.1_3'UTR NM_021165.2 NP_066988.1 Q9C0B6 FAM5B_HUMAN 221 extracellular region breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(21)|liver(1)|lung(41)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1) 94 GCCACGGGGGCCATCAAGGTA 0.617000 3 13 0 0 0.004672 0 0 CXorf22 170063 broad.mit.edu 37 X 35971783 35971783 + Missense_Mutation SNP C C T TCGA-BF-A1PV-01A-11D-A19A-08 TCGA-BF-A1PV-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0db1b3b6-b61c-4718-9cbf-65550d399bc7 792d1c6e-02b2-442b-a36e-d5a4afa5a6aa g.chrX:35971783C>T ENST00000297866.5 + 7 1187 c.1121C>T c.(1120-1122)tCc>tTc p.S374F NM_152632.3 NP_689845.2 Q6ZTR5 CX022_HUMAN chromosome X open reading frame 22 374 breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(3) 44 AGATTTGAGTCCGTAGGAAGT 0.323000 12 8 0 0 0.001855 0 0 HDC 3067 broad.mit.edu 37 15 50534909 50534909 + Missense_Mutation SNP C C T TCGA-BF-A1PV-01A-11D-A19A-08 TCGA-BF-A1PV-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0db1b3b6-b61c-4718-9cbf-65550d399bc7 792d1c6e-02b2-442b-a36e-d5a4afa5a6aa g.chr15:50534909C>T ENST00000267845.3 - 12 1939 c.1537G>A c.(1537-1539)Gga>Aga p.G513R HDC_ENST00000543581.1_Missense_Mutation_p.G480R NM_002112.3 NP_002103.2 P19113 DCHS_HUMAN histidine decarboxylase 513 catecholamine biosynthetic process|histidine metabolic process histidine decarboxylase activity breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 50 all_lung(180;0.0138) all cancers(107;1.12e-06)|GBM - Glioblastoma multiforme(94;9.95e-05) L-Histidine(DB00117)|Pyridoxal Phosphate(DB00114) GGATCATCTCCTGCCCCACTG 0.582000 12 21 0 0 0.001855 0 0 BCORL1 63035 broad.mit.edu 37 X 129146564 129146564 + Missense_Mutation SNP C C T TCGA-BF-A1PV-01A-11D-A19A-08 TCGA-BF-A1PV-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0db1b3b6-b61c-4718-9cbf-65550d399bc7 792d1c6e-02b2-442b-a36e-d5a4afa5a6aa g.chrX:129146564C>T ENST00000540052.1 + 2 141 c.97C>T c.(97-99)Ctt>Ttt p.L33F BCORL1_ENST00000218147.7_Missense_Mutation_p.L33F|BCORL1_ENST00000488135.1_3'UTR|BCORL1_ENST00000303743.5_Missense_Mutation_p.L33F|BCORL1_ENST00000359304.2_Missense_Mutation_p.L33F NM_021946.4 NP_068765.3 Q5H9F3 BCORL_HUMAN BCL6 corepressor-like 1 33 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 AAGAGCACCTCTTTCTGATGA 0.527000 59 96 0 0 0.003610 0 0 CRX 1406 broad.mit.edu 37 19 48339556 48339556 + Missense_Mutation SNP G G A TCGA-BF-A1PV-01A-11D-A19A-08 TCGA-BF-A1PV-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0db1b3b6-b61c-4718-9cbf-65550d399bc7 792d1c6e-02b2-442b-a36e-d5a4afa5a6aa g.chr19:48339556G>A ENST00000221996.7 + 3 363 c.157G>A c.(157-159)Gag>Aag p.E53K TPRX2P_ENST00000535362.1_Intron|CRX_ENST00000539067.1_Missense_Mutation_p.E53K NM_000554.4 NP_000545.1 O43186 CRX_HUMAN cone-rod homeobox 53 organ morphogenesis|response to stimulus|visual perception leucine zipper domain binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|prostate(2)|urinary_tract(1) 23 all_cancers(25;2.76e-09)|all_epithelial(76;7.01e-07)|all_lung(116;2.48e-06)|Lung NSC(112;5.15e-06)|Ovarian(192;0.0139)|all_neural(266;0.0146)|Breast(70;0.133) OV - Ovarian serous cystadenocarcinoma(262;0.000266)|all cancers(93;0.000788)|Epithelial(262;0.0226)|GBM - Glioblastoma multiforme(486;0.0521) CCAACTGGAGGAGCTGGAGGC 0.632000 28 44 0 0 0.007291 0 0 BUB1 699 broad.mit.edu 37 2 111398697 111398697 + Missense_Mutation SNP G G A TCGA-BF-A1PV-01A-11D-A19A-08 TCGA-BF-A1PV-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0db1b3b6-b61c-4718-9cbf-65550d399bc7 792d1c6e-02b2-442b-a36e-d5a4afa5a6aa g.chr2:111398697G>A ENST00000535254.1 - 22 2876 c.2809C>T c.(2809-2811)Cca>Tca p.P937S BUB1_ENST00000409311.1_Missense_Mutation_p.P900S|BUB1_ENST00000302759.6_Missense_Mutation_p.P957S NM_001278616.1 NP_001265545.1 O43683 BUB1_HUMAN BUB1 mitotic checkpoint serine/threonine kinase 957 Protein kinase. apoptosis|cell division|chromosome segregation|interspecies interaction between organisms|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|regulation of sister chromatid cohesion condensed chromosome kinetochore|cytosol ATP binding|protein binding|protein serine/threonine kinase activity breast(3)|endometrium(8)|kidney(4)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|stomach(1) 45 Ovarian(717;0.0822) BRCA - Breast invasive adenocarcinoma(221;0.0556) GTTCCTTTTGGAAAAAGTTTC 0.368000 16 16 0 0 0.004007 0 0 OR11G2 390439 broad.mit.edu 37 14 20666514 20666514 + Silent SNP G G A TCGA-BF-A1PV-01A-11D-A19A-08 TCGA-BF-A1PV-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0db1b3b6-b61c-4718-9cbf-65550d399bc7 792d1c6e-02b2-442b-a36e-d5a4afa5a6aa g.chr14:20666514G>A ENST00000357366.3 + 1 1020 c.1020G>A c.(1018-1020)aaG>aaA p.K340K NM_001005503.1 NP_001005503.1 Q8NGC1 O11G2_HUMAN olfactory receptor, family 11, subfamily G, member 2 340 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(3)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2) 22 all_cancers(95;0.00108) Epithelial(56;9.76e-07)|all cancers(55;5.61e-06) GBM - Glioblastoma multiforme(265;0.0144) AAGCTCTGAAGAAATTTTGGG 0.358000 37 51 0 0 0.008740 0 0 OR13C9 286362 broad.mit.edu 37 9 107380132 107380132 + Missense_Mutation SNP C C T TCGA-BF-A1PV-01A-11D-A19A-08 TCGA-BF-A1PV-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0db1b3b6-b61c-4718-9cbf-65550d399bc7 792d1c6e-02b2-442b-a36e-d5a4afa5a6aa g.chr9:107380132C>T ENST00000259362.1 - 1 353 c.354G>A c.(352-354)atG>atA p.M118I NM_001001956.1 NP_001001956.1 Q8NGT0 O13C9_HUMAN olfactory receptor, family 13, subfamily C, member 9 118 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(1)|large_intestine(6)|lung(9)|prostate(1)|skin(4) 22 GGTCAAAGGCCATCATGCCCA 0.502000 12 5 0 0 0.002450 0 0 EZH2 2146 broad.mit.edu 37 7 148508728 148508728 + Missense_Mutation SNP A A T TCGA-BF-A1PV-01A-11D-A19A-08 TCGA-BF-A1PV-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0db1b3b6-b61c-4718-9cbf-65550d399bc7 792d1c6e-02b2-442b-a36e-d5a4afa5a6aa g.chr7:148508728A>T ENST00000320356.2 - 16 2057 c.1936T>A c.(1936-1938)Tac>Aac p.Y646N EZH2_ENST00000541220.1_Missense_Mutation_p.Y590N|EZH2_ENST00000460911.1_Missense_Mutation_p.Y641N|EZH2_ENST00000483967.1_Missense_Mutation_p.Y632N|EZH2_ENST00000478654.1_Missense_Mutation_p.Y590N|EZH2_ENST00000350995.2_Missense_Mutation_p.Y602N|EZH2_ENST00000476773.1_Missense_Mutation_p.Y590N NM_001203247.1|NM_001203248.1|NM_004456.4 NP_001190176.1|NP_001190177.1|NP_004447.2 Q15910 EZH2_HUMAN enhancer of zeste homolog 2 (Drosophila) 641 SET. negative regulation of retinoic acid receptor signaling pathway|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent ESC/E(Z) complex DNA binding|histone-lysine N-methyltransferase activity|protein binding p.Y646N(51)|p.Y646H(19)|p.Y602N(14)|p.Y602H(6) breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(313)|kidney(3)|large_intestine(8)|liver(1)|lung(23)|parathyroid(2)|skin(3)|upper_aerodigestive_tract(3) 359 Melanoma(164;0.15) OV - Ovarian serous cystadenocarcinoma(82;0.00239) TCTCCACAGTATTCTGAGATG 0.383000 Mis DLBCL 9 12 0 0 0.006214 0 0 FLYWCH1 84256 broad.mit.edu 37 16 2983757 2983757 + Silent SNP C C T TCGA-BF-A1PV-01A-11D-A19A-08 TCGA-BF-A1PV-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0db1b3b6-b61c-4718-9cbf-65550d399bc7 792d1c6e-02b2-442b-a36e-d5a4afa5a6aa g.chr16:2983757C>T ENST00000399667.2 + 6 1653 c.1290C>T c.(1288-1290)ttC>ttT p.F430F FLYWCH1_ENST00000253928.9_Silent_p.F430F|FLYWCH1_ENST00000416288.2_Silent_p.F429F Q4VC44 FWCH1_HUMAN FLYWCH-type zinc finger 1 430 nucleus DNA binding|metal ion binding kidney(1)|lung(3) 4 GGGGCAGCTTCCTGGTGTACG 0.682000 9 11 0 0 0.008291 0 0 PCSK5 5125 broad.mit.edu 37 9 78965799 78965799 + Silent SNP G G A TCGA-BF-A1PV-01A-11D-A19A-08 TCGA-BF-A1PV-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0db1b3b6-b61c-4718-9cbf-65550d399bc7 792d1c6e-02b2-442b-a36e-d5a4afa5a6aa g.chr9:78965799G>A ENST00000545128.1 + 35 5479 c.4941G>A c.(4939-4941)ggG>ggA p.G1647G NM_001190482.1 NP_001177411.1 Q92824 PCSK5_HUMAN proprotein convertase subtilisin/kexin type 5 812 anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release extracellular space|Golgi lumen|stored secretory granule peptide binding|serine-type endopeptidase activity NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3) 55 TCATGGGAGGGATCTGCACCT 0.488000 14 46 0 0 0.004990 0 0 SORT1 6272 broad.mit.edu 37 1 109897060 109897060 + Missense_Mutation SNP G G A TCGA-BF-A1PV-01A-11D-A19A-08 TCGA-BF-A1PV-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0db1b3b6-b61c-4718-9cbf-65550d399bc7 792d1c6e-02b2-442b-a36e-d5a4afa5a6aa g.chr1:109897060G>A ENST00000256637.6 - 5 695 c.637C>T c.(637-639)Cct>Tct p.P213S SORT1_ENST00000538502.1_Missense_Mutation_p.P77S NM_002959.5 NP_002950.3 Q99523 SORT_HUMAN sortilin 1 213 endocytosis|endosome to lysosome transport|endosome transport via multivesicular body sorting pathway|glucose import|Golgi to endosome transport|induction of apoptosis by extracellular signals|myotube differentiation|negative regulation of apoptosis|negative regulation of lipoprotein lipase activity|neuropeptide signaling pathway|ossification|plasma membrane to endosome transport|regulation of gene expression|response to insulin stimulus|vesicle organization cell surface|coated pit|early endosome|endoplasmic reticulum membrane|endosome membrane|Golgi cisterna membrane|integral to membrane|lysosomal membrane|microsome|nuclear membrane|perinuclear region of cytoplasm|plasma membrane enzyme binding|nerve growth factor binding|nerve growth factor receptor activity|neurotensin receptor activity, non-G-protein coupled NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(5)|ovary(2)|prostate(1)|skin(1) 26 all_epithelial(167;4.69e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244) Lung(183;0.0529)|Colorectal(144;0.142)|Epithelial(280;0.145)|Kidney(133;0.169)|all cancers(265;0.184) GGATGAAAAGGGAGATCTGTT 0.428000 73 102 0 0 0.003610 0 0 CAMSAP2 23271 broad.mit.edu 37 1 200819197 200819197 + Silent SNP C C T rs141562761 TCGA-BF-A1PV-01A-11D-A19A-08 TCGA-BF-A1PV-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0db1b3b6-b61c-4718-9cbf-65550d399bc7 792d1c6e-02b2-442b-a36e-d5a4afa5a6aa g.chr1:200819197C>T ENST00000358823.2 + 11 3570 c.3300C>T c.(3298-3300)ccC>ccT p.P1100P CAMSAP2_ENST00000413307.2_Silent_p.P1084P|CAMSAP2_ENST00000236925.4_Silent_p.P1111P NM_203459.1 NP_982284.1 Q08AD1 CAMP2_HUMAN calmodulin regulated spectrin-associated protein family, member 2 1111 cytoplasm|microtubule protein binding CTCCTAAACCCGTTTTCCCAC 0.443000 11 18 0 0 0.000978 0 0 LOC442028 442028 broad.mit.edu 37 2 95558300 95558300 + RNA SNP G G A TCGA-BF-A1PV-01A-11D-A19A-08 TCGA-BF-A1PV-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0db1b3b6-b61c-4718-9cbf-65550d399bc7 792d1c6e-02b2-442b-a36e-d5a4afa5a6aa g.chr2:95558300G>A ENST00000568768.1 - 0 476 CACGTGTATGGATATTTCTTC 0.418000 5 6 0 0 0.001984 0 0 EPHA1 2041 broad.mit.edu 37 7 143098468 143098468 + Missense_Mutation SNP C C T rs111858878 TCGA-BF-A1PV-01A-11D-A19A-08 TCGA-BF-A1PV-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0db1b3b6-b61c-4718-9cbf-65550d399bc7 792d1c6e-02b2-442b-a36e-d5a4afa5a6aa g.chr7:143098468C>T ENST00000275815.3 - 3 467 c.381G>A c.(379-381)atG>atA p.M127I NM_005232.4 NP_005223.4 P21709 EPHA1_HUMAN EPH receptor A1 127 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) GGTCACTCTCCATGTACAGAA 0.617000 74 95 0 0 0.003610 0 0 PPP1CA 5499 broad.mit.edu 37 11 67166506 67166506 + Missense_Mutation SNP C C T TCGA-BF-A1PV-01A-11D-A19A-08 TCGA-BF-A1PV-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0db1b3b6-b61c-4718-9cbf-65550d399bc7 792d1c6e-02b2-442b-a36e-d5a4afa5a6aa g.chr11:67166506C>T ENST00000376745.4 - 5 800 c.652G>A c.(652-654)Gag>Aag p.E218K PPP1CA_ENST00000358239.4_Missense_Mutation_p.E174K|PPP1CA_ENST00000312989.7_Missense_Mutation_p.E229K|PPP1CA_ENST00000532446.1_5'UTR NM_001008709.1|NM_002708.3 NP_001008709.1|NP_002699.1 P62136 PP1A_HUMAN protein phosphatase 1, catalytic subunit, alpha isozyme 218 cell cycle|cell division|glycogen metabolic process|protein dephosphorylation|triglyceride catabolic process cytosol|MLL5-L complex|nucleolus|PTW/PP1 phosphatase complex metal ion binding|protein binding|protein phosphatase type 1 regulator activity|protein serine/threonine phosphatase activity breast(1)|lung(2)|pancreas(1)|urinary_tract(3) 7 BRCA - Breast invasive adenocarcinoma(15;8.53e-07) CGGTCGTTCTCGCCCCAGCCC 0.622000 28 38 0 0 0.008361 0 0 COL11A1 1301 broad.mit.edu 37 1 103381207 103381207 + Missense_Mutation SNP G G A TCGA-BF-A1PV-01A-11D-A19A-08 TCGA-BF-A1PV-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0db1b3b6-b61c-4718-9cbf-65550d399bc7 792d1c6e-02b2-442b-a36e-d5a4afa5a6aa g.chr1:103381207G>A ENST00000358392.2 - 50 4149 c.3832C>T c.(3832-3834)Cct>Tct p.P1278S COL11A1_ENST00000512756.1_Missense_Mutation_p.P1150S|COL11A1_ENST00000353414.4_Missense_Mutation_p.P1227S|COL11A1_ENST00000370096.3_Missense_Mutation_p.P1266S NM_080629.2 NP_542196.2 P12107 COBA1_HUMAN collagen, type XI, alpha 1 1266 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) GCTTCCCCAGGAGGCCCTGGG 0.363000 11 9 0 0 0.000978 0 0 SRGAP3 9901 broad.mit.edu 37 3 9032423 9032423 + Missense_Mutation SNP G G A TCGA-BF-A1PV-01A-11D-A19A-08 TCGA-BF-A1PV-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0db1b3b6-b61c-4718-9cbf-65550d399bc7 792d1c6e-02b2-442b-a36e-d5a4afa5a6aa g.chr3:9032423G>A ENST00000383836.3 - 21 3086 c.2659C>T c.(2659-2661)Ccc>Tcc p.P887S SRGAP3_ENST00000360413.3_Missense_Mutation_p.P863S NM_014850.3 NP_055665.1 O43295 SRGP2_HUMAN SLIT-ROBO Rho GTPase activating protein 3 887 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity|protein binding SRGAP3/RAF1(6) breast(1)|endometrium(2)|kidney(21)|large_intestine(7)|lung(13)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 54 OV - Ovarian serous cystadenocarcinoma(96;0.0563) GCAGCCCGGGGTGGTGTGTCT 0.697000 T RAF1 pilocytic astrocytoma 11 25 0 0 0.000978 0 0 AKAP6 9472 broad.mit.edu 37 14 32902941 32902941 + Missense_Mutation SNP C C T TCGA-BF-A1PV-01A-11D-A19A-08 TCGA-BF-A1PV-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0db1b3b6-b61c-4718-9cbf-65550d399bc7 792d1c6e-02b2-442b-a36e-d5a4afa5a6aa g.chr14:32902941C>T ENST00000280979.4 + 2 412 c.242C>T c.(241-243)tCa>tTa p.S81L AKAP6_ENST00000557354.1_Missense_Mutation_p.S81L|AKAP6_ENST00000557272.1_Missense_Mutation_p.S81L|AKAP6_ENST00000554449.1_3'UTR NM_004274.4 NP_004265.3 Q13023 AKAP6_HUMAN A kinase (PRKA) anchor protein 6 81 protein targeting calcium channel complex|nuclear membrane|sarcoplasmic reticulum protein kinase A binding|receptor binding NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2) 122 Breast(36;0.0388)|Prostate(35;0.15) LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116) GBM - Glioblastoma multiforme(265;0.019) CGGATGACCTCAGAGAGGGTC 0.507000 6 11 0 0 0.001168 0 0 ACSM5 54988 broad.mit.edu 37 16 20430564 20430564 + Missense_Mutation SNP C C T TCGA-BF-A1PV-01A-11D-A19A-08 TCGA-BF-A1PV-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0db1b3b6-b61c-4718-9cbf-65550d399bc7 792d1c6e-02b2-442b-a36e-d5a4afa5a6aa g.chr16:20430564C>T ENST00000331849.4 + 4 577 c.430C>T c.(430-432)Ccg>Tcg p.P144S ACSM5_ENST00000575584.1_Missense_Mutation_p.P144S NM_017888.2 NP_060358.2 Q6NUN0 ACSM5_HUMAN acyl-CoA synthetase medium-chain family member 5 144 fatty acid metabolic process mitochondrial matrix ATP binding|butyrate-CoA ligase activity|GTP binding|metal ion binding breast(1)|endometrium(6)|kidney(2)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(3)|urinary_tract(1) 51 TGTGATGATTCCGGGTGTGAC 0.557000 13 23 0 0 0.001855 0 0 THSD7B 80731 broad.mit.edu 37 2 137813992 137813992 + Missense_Mutation SNP C C T TCGA-BF-A1PV-01A-11D-A19A-08 TCGA-BF-A1PV-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0db1b3b6-b61c-4718-9cbf-65550d399bc7 792d1c6e-02b2-442b-a36e-d5a4afa5a6aa g.chr2:137813992C>T ENST00000409968.1 + 3 320 c.142C>T c.(142-144)Ccg>Tcg p.P48S THSD7B_ENST00000413152.2_Missense_Mutation_p.P17S|THSD7B_ENST00000272643.3_Missense_Mutation_p.P48S thrombospondin, type I, domain containing 7B NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3) 134 BRCA - Breast invasive adenocarcinoma(221;0.19) GCCTGTAGGTCCGTGGGGAAG 0.473000 8 8 0 0 0.006214 0 0 KALRN 8997 broad.mit.edu 37 3 123987794 123987794 + Missense_Mutation SNP G G A TCGA-BF-A1PV-01A-11D-A19A-08 TCGA-BF-A1PV-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0db1b3b6-b61c-4718-9cbf-65550d399bc7 792d1c6e-02b2-442b-a36e-d5a4afa5a6aa g.chr3:123987794G>A ENST00000360013.3 + 5 782 c.655G>A c.(655-657)Gat>Aat p.D219N KALRN_ENST00000460856.1_Missense_Mutation_p.D219N|KALRN_ENST00000240874.3_Missense_Mutation_p.D219N NM_001024660.3 NP_001019831.2 O60229 KALRN_HUMAN kalirin, RhoGEF kinase 219 apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport actin cytoskeleton|cytosol ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 83 GTTTCCTGTGGATGTGGAGGG 0.627000 12 14 0 0 0.001855 0 0 FAM135B 51059 broad.mit.edu 37 8 139164878 139164878 + Missense_Mutation SNP C C T TCGA-BF-A1PV-01A-11D-A19A-08 TCGA-BF-A1PV-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0db1b3b6-b61c-4718-9cbf-65550d399bc7 792d1c6e-02b2-442b-a36e-d5a4afa5a6aa g.chr8:139164878C>T ENST00000395297.1 - 13 2010 c.1840G>A c.(1840-1842)Gaa>Aaa p.E614K NM_015912.3 NP_056996.2 Q49AJ0 F135B_HUMAN family with sequence similarity 135, member B 614 NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1) 238 all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0805) GTACTTAATTCATGGAGAGTT 0.453000 HNSCC(54;0.14) 27 88 0 0 0.005443 0 0 ARPP21 10777 broad.mit.edu 37 3 35723313 35723313 + Missense_Mutation SNP C C T TCGA-BF-A1PV-01A-11D-A19A-08 TCGA-BF-A1PV-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0db1b3b6-b61c-4718-9cbf-65550d399bc7 792d1c6e-02b2-442b-a36e-d5a4afa5a6aa g.chr3:35723313C>T ENST00000187397.4 + 3 526 c.70C>T c.(70-72)Cca>Tca p.P24S ARPP21_ENST00000428373.1_Missense_Mutation_p.P24S|ARPP21_ENST00000441454.1_Missense_Mutation_p.P24S|ARPP21_ENST00000417925.1_Missense_Mutation_p.P24S|ARPP21_ENST00000412048.1_Missense_Mutation_p.P24S|ARPP21_ENST00000396482.2_Missense_Mutation_p.P24S|ARPP21_ENST00000396481.2_Missense_Mutation_p.P24S|ARPP21_ENST00000432682.1_Missense_Mutation_p.P24S|ARPP21_ENST00000337271.5_Missense_Mutation_p.P24S|ARPP21_ENST00000436702.1_Missense_Mutation_p.P24S|ARPP21_ENST00000427542.1_Missense_Mutation_p.P24S|ARPP21_ENST00000458225.1_Missense_Mutation_p.P24S|ARPP21_ENST00000474696.1_Missense_Mutation_p.P24S|ARPP21_ENST00000438071.1_Missense_Mutation_p.P24S|ARPP21_ENST00000444190.1_Missense_Mutation_p.P24S NM_016300.4 NP_057384.2 Q9UBL0 ARP21_HUMAN cAMP-regulated phosphoprotein, 21kDa 24 cytoplasm nucleic acid binding cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 61 GACGGCCACTCCAGAGAACGG 0.468000 4 4 0 0 0.000248 0 0 DPPA2 151871 broad.mit.edu 37 3 109023485 109023485 + Missense_Mutation SNP G G A TCGA-BF-A1PV-01A-11D-A19A-08 TCGA-BF-A1PV-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0db1b3b6-b61c-4718-9cbf-65550d399bc7 792d1c6e-02b2-442b-a36e-d5a4afa5a6aa g.chr3:109023485G>A ENST00000478945.1 - 7 937 c.691C>T c.(691-693)Ctc>Ttc p.L231F NM_138815.3 NP_620170.3 Q7Z7J5 DPPA2_HUMAN developmental pluripotency associated 2 231 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 TCTGCCGAGAGAAGTCTGCCA 0.502000 19 20 0 0 0.007413 0 0 RASGRP2 10235 broad.mit.edu 37 11 64503020 64503020 + Missense_Mutation SNP C C T TCGA-BF-A1PV-01A-11D-A19A-08 TCGA-BF-A1PV-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0db1b3b6-b61c-4718-9cbf-65550d399bc7 792d1c6e-02b2-442b-a36e-d5a4afa5a6aa g.chr11:64503020C>T ENST00000377494.1 - 10 2212 c.1290G>A c.(1288-1290)atG>atA p.M430I RASGRP2_ENST00000394432.3_Missense_Mutation_p.M430I|RASGRP2_ENST00000354024.3_Missense_Mutation_p.M430I|RASGRP2_ENST00000377497.3_Missense_Mutation_p.M430I Q7LDG7 GRP2_HUMAN RAS guanyl releasing protein 2 (calcium and DAG-regulated) 430 EF-hand 1. platelet activation|Ras protein signal transduction|regulation of cell growth|regulation of small GTPase mediated signal transduction cell junction|cytosol|ruffle membrane|synapse|synaptosome calcium ion binding|diacylglycerol binding|guanyl-nucleotide exchange factor activity breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 24 TCACCTCCACCATCTTCTCGA 0.647000 19 26 0 0 0.006122 0 0 PRSS58 136541 broad.mit.edu 37 7 141952372 141952372 + Missense_Mutation SNP G G A rs146814209 TCGA-BF-A1PV-01A-11D-A19A-08 TCGA-BF-A1PV-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0db1b3b6-b61c-4718-9cbf-65550d399bc7 792d1c6e-02b2-442b-a36e-d5a4afa5a6aa g.chr7:141952372G>A ENST00000552471.1 - 4 815 c.496C>T c.(496-498)Cgc>Tgc p.R166C PRSS58_ENST00000547058.2_Missense_Mutation_p.R166C Q8IYP2 PRS58_HUMAN protease, serine, 58 166 Peptidase S1. proteolysis extracellular region serine-type endopeptidase activity kidney(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(2)|skin(2) 19 TAGGCATCGCGACACTGAGGC 0.433000 15 13 0 0 0.004007 0 0 USP54 159195 broad.mit.edu 37 10 75258465 75258465 + Silent SNP C C T TCGA-BF-A1PV-01A-11D-A19A-08 TCGA-BF-A1PV-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0db1b3b6-b61c-4718-9cbf-65550d399bc7 792d1c6e-02b2-442b-a36e-d5a4afa5a6aa g.chr10:75258465C>T ENST00000339859.4 - 23 5077 c.4977G>A c.(4975-4977)gaG>gaA p.E1659E RP11-137L10.6_ENST00000600887.1_RNA|RP11-137L10.6_ENST00000600206.1_RNA|RP11-137L10.6_ENST00000597958.1_RNA|RP11-137L10.6_ENST00000596320.1_RNA|RP11-137L10.6_ENST00000595935.1_RNA|RP11-137L10.6_ENST00000595069.1_RNA|RP11-137L10.6_ENST00000593790.1_RNA|RP11-137L10.6_ENST00000442133.3_RNA|RP11-137L10.6_ENST00000600607.1_RNA|USP54_ENST00000497106.1_5'UTR|USP54_ENST00000428547.1_Silent_p.E1509E|USP54_ENST00000422491.2_Silent_p.E794E|USP54_ENST00000408019.1_Silent_p.E1659E|USP54_ENST00000394811.2_Silent_p.E700E Q70EL1 UBP54_HUMAN ubiquitin specific peptidase 54 1659 ubiquitin-dependent protein catabolic process protein binding|ubiquitin thiolesterase activity breast(5)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(1) 30 Prostate(51;0.0112) ACAGAAACCCCTCTCCCACTG 0.517000 23 40 0 0 0.002299 0 0 SLITRK1 114798 broad.mit.edu 37 13 84454314 84454314 + Silent SNP G G A TCGA-BF-A1PV-01A-11D-A19A-08 TCGA-BF-A1PV-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0db1b3b6-b61c-4718-9cbf-65550d399bc7 792d1c6e-02b2-442b-a36e-d5a4afa5a6aa g.chr13:84454314G>A ENST00000377084.2 - 1 2214 c.1329C>T c.(1327-1329)ttC>ttT p.F443F NM_052910.1 NP_443142.1 Q96PX8 SLIK1_HUMAN SLIT and NTRK-like family, member 1 443 integral to membrane NS(2)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(36)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 80 Medulloblastoma(90;0.18) Breast(118;0.212) GBM - Glioblastoma multiforme(99;0.07) GCAGCCCCGCGAATTTCTCCC 0.507000 29 33 0 0 0.005443 0 0 XIRP2 129446 broad.mit.edu 37 2 168103940 168103940 + Missense_Mutation SNP G G A TCGA-BF-A1PV-01A-11D-A19A-08 TCGA-BF-A1PV-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0db1b3b6-b61c-4718-9cbf-65550d399bc7 792d1c6e-02b2-442b-a36e-d5a4afa5a6aa g.chr2:168103940G>A ENST00000409195.1 + 9 6127 c.6038G>A c.(6037-6039)aGa>aAa p.R2013K XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.R2013K|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.R1791K|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409043.1_Intron NM_152381.5 NP_689594.4 A4UGR9 XIRP2_HUMAN xin actin-binding repeat containing 2 1838 actin cytoskeleton organization cell junction actin binding p.R2013I(1) NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7) 315 GTAGAAGAAAGAACTGAGGTT 0.448000 4 2 0 0 0.000248 0 0 SRRT 51593 broad.mit.edu 37 7 100484465 100484465 + Missense_Mutation SNP T T A TCGA-BF-A1PV-01A-11D-A19A-08 TCGA-BF-A1PV-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0db1b3b6-b61c-4718-9cbf-65550d399bc7 792d1c6e-02b2-442b-a36e-d5a4afa5a6aa g.chr7:100484465T>A ENST00000388793.4 + 14 1914 c.1694T>A c.(1693-1695)aTc>aAc p.I565N SRRT_ENST00000432932.1_Missense_Mutation_p.I565N|SRRT_ENST00000347433.4_Missense_Mutation_p.I566N|SRRT_ENST00000457580.2_Missense_Mutation_p.I566N NM_001128852.1|NM_015908.5 NP_001122324.1|NP_056992.4 Q9BXP5 SRRT_HUMAN serrate RNA effector molecule homolog (Arabidopsis) 566 cell proliferation|primary miRNA processing|response to arsenic-containing substance cytoplasm|nucleoplasm protein binding breast(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(5)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 40 GACTACCTGATCGAGGAAGTA 0.582000 25 25 0 0 0.003330 0 0 OR52M1 119772 broad.mit.edu 37 11 4567217 4567217 + Missense_Mutation SNP G G A TCGA-BF-A1PV-01A-11D-A19A-08 TCGA-BF-A1PV-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0db1b3b6-b61c-4718-9cbf-65550d399bc7 792d1c6e-02b2-442b-a36e-d5a4afa5a6aa g.chr11:4567217G>A ENST00000360213.1 + 1 797 c.797G>A c.(796-798)cGa>cAa p.R266Q NM_001004137.1 NP_001004137.1 Q8NGK5 O52M1_HUMAN olfactory receptor, family 52, subfamily M, member 1 266 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|large_intestine(2)|lung(9)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 18 Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577) Epithelial(150;8.45e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19) CTGATTCACCGATTTGGTCAG 0.507000 9 15 0 0 0.006214 0 0 COBLL1 22837 broad.mit.edu 37 2 165584664 165584664 + Missense_Mutation SNP G G A TCGA-BF-A1PV-01A-11D-A19A-08 TCGA-BF-A1PV-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0db1b3b6-b61c-4718-9cbf-65550d399bc7 792d1c6e-02b2-442b-a36e-d5a4afa5a6aa g.chr2:165584664G>A ENST00000375458.2 - 4 697 c.476C>T c.(475-477)aCc>aTc p.T159I COBLL1_ENST00000491126.2_Intron|COBLL1_ENST00000194871.6_Missense_Mutation_p.T212I|COBLL1_ENST00000409184.3_Missense_Mutation_p.T197I|COBLL1_ENST00000392717.2_Missense_Mutation_p.T197I|COBLL1_ENST00000342193.4_Missense_Mutation_p.T159I NM_001278460.1|NM_001278461.1 NP_001265389.1|NP_001265390.1 Q53SF7 COBL1_HUMAN cordon-bleu WH2 repeat protein-like 1 197 central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(12)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2) 47 TCTCACTATGGTCTTCTGTGT 0.363000 10 13 0 0 0.008291 0 0 GPR128 84873 broad.mit.edu 37 3 100413831 100413831 + Missense_Mutation SNP A A G TCGA-BF-A1PV-01A-11D-A19A-08 TCGA-BF-A1PV-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0db1b3b6-b61c-4718-9cbf-65550d399bc7 792d1c6e-02b2-442b-a36e-d5a4afa5a6aa g.chr3:100413831A>G ENST00000273352.3 + 16 2648 c.2380A>G c.(2380-2382)Aag>Gag p.K794E GPR128_ENST00000475887.1_Missense_Mutation_p.K499E|GPR128_ENST00000481506.1_3'UTR NM_032787.2 NP_116176.2 Q96K78 GP128_HUMAN G protein-coupled receptor 128 794 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2) 56 TGACAATGCAAAGGAAAGCAT 0.408000 22 26 0 0 0.002299 0 0 NEUROD6 63974 broad.mit.edu 37 7 31378150 31378150 + Missense_Mutation SNP C C T TCGA-BF-A1PV-01A-11D-A19A-08 TCGA-BF-A1PV-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0db1b3b6-b61c-4718-9cbf-65550d399bc7 792d1c6e-02b2-442b-a36e-d5a4afa5a6aa g.chr7:31378150C>T ENST00000297142.3 - 2 1055 c.733G>A c.(733-735)Gaa>Aaa p.E245K NM_022728.2 NP_073565.2 Q96NK8 NDF6_HUMAN neuronal differentiation 6 245 cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1) 32 GAAGTACTTTCATAGAAGGAT 0.473000 25 32 0 0 0.005443 0 0 GALC 2581 broad.mit.edu 37 14 88454820 88454820 + Missense_Mutation SNP C C A TCGA-BF-A1PV-01A-11D-A19A-08 TCGA-BF-A1PV-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0db1b3b6-b61c-4718-9cbf-65550d399bc7 792d1c6e-02b2-442b-a36e-d5a4afa5a6aa g.chr14:88454820C>A ENST00000261304.2 - 2 349 c.243G>T c.(241-243)caG>caT p.Q81H GALC_ENST00000393569.2_Missense_Mutation_p.Q55H|GALC_ENST00000554916.1_5'UTR|GALC_ENST00000544807.2_Missense_Mutation_p.Q25H|GALC_ENST00000393568.4_Intron NM_000153.3|NM_001201401.1 NP_000144.2|NP_001188330.1 P54803 GALC_HUMAN galactosylceramidase 81 carbohydrate metabolic process|galactosylceramide catabolic process lysosome cation binding|galactosylceramidase activity endometrium(2)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 AATCCAATATCTGAGAACGAT 0.303000 30 47 1.56738e-10 1.74319e-10 0.004289 1 0 EPHB2 2048 broad.mit.edu 37 1 23208919 23208919 + Silent SNP C C T TCGA-BF-A1PV-01A-11D-A19A-08 TCGA-BF-A1PV-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0db1b3b6-b61c-4718-9cbf-65550d399bc7 792d1c6e-02b2-442b-a36e-d5a4afa5a6aa g.chr1:23208919C>T ENST00000400191.3 + 6 1389 c.1371C>T c.(1369-1371)tcC>tcT p.S457S EPHB2_ENST00000374630.3_Silent_p.S457S|EPHB2_ENST00000544305.1_Silent_p.S457S|EPHB2_ENST00000465676.1_3'UTR|EPHB2_ENST00000374627.1_Silent_p.S451S|EPHB2_ENST00000374632.3_Silent_p.S457S NM_004442.6|NM_017449.3 NP_004433.2|NP_059145.2 P29323 EPHB2_HUMAN EPH receptor B2 457 Fibronectin type-III 2. axon guidance integral to plasma membrane ATP binding|transmembrane-ephrin receptor activity NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(8)|stomach(1)|urinary_tract(1) 56 Colorectal(325;3.46e-05)|Lung NSC(340;3.7e-05)|all_lung(284;5.45e-05)|Renal(390;0.000228)|Breast(348;0.0027)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0258) UCEC - Uterine corpus endometrioid carcinoma (279;0.0348)|OV - Ovarian serous cystadenocarcinoma(117;3.67e-26)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|GBM - Glioblastoma multiforme(114;2.93e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000606)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.126)|Lung(427;0.153) TGTCGTGGTCCCAGCCGGACC 0.592000 21 36 0 0 0.002299 0 0 BTBD16 118663 broad.mit.edu 37 10 124043430 124043430 + Missense_Mutation SNP G G A TCGA-BF-A1PV-01A-11D-A19A-08 TCGA-BF-A1PV-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0db1b3b6-b61c-4718-9cbf-65550d399bc7 792d1c6e-02b2-442b-a36e-d5a4afa5a6aa g.chr10:124043430G>A ENST00000368994.2 + 4 486 c.235G>A c.(235-237)Ggg>Agg p.G79R BTBD16_ENST00000260723.4_Missense_Mutation_p.G78R Q32M84 BTBDG_HUMAN BTB (POZ) domain containing 16 78 breast(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(3)|skin(2)|stomach(1)|urinary_tract(1) 15 all_neural(114;0.107)|Lung NSC(174;0.175)|all_lung(145;0.222)|Breast(234;0.238) CATCCAAAGTGGGGAAGCAGG 0.398000 6 16 0 0 0.001168 0 0 VPS13A 23230 broad.mit.edu 37 9 79984267 79984267 + Missense_Mutation SNP C C T TCGA-BF-A1PV-01A-11D-A19A-08 TCGA-BF-A1PV-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0db1b3b6-b61c-4718-9cbf-65550d399bc7 792d1c6e-02b2-442b-a36e-d5a4afa5a6aa g.chr9:79984267C>T ENST00000360280.3 + 63 8866 c.8606C>T c.(8605-8607)cCa>cTa p.P2869L VPS13A_ENST00000376636.3_Missense_Mutation_p.P2830L|VPS13A_ENST00000357409.5_Missense_Mutation_p.P2869L|VPS13A_ENST00000376634.4_Missense_Mutation_p.P2869L NM_033305.2 NP_150648.2 Q96RL7 VP13A_HUMAN vacuolar protein sorting 13 homolog A (S. cerevisiae) 2869 Golgi to endosome transport|protein transport intracellular protein binding breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1) 104 TTGGGAAATCCATTTGGCTTA 0.294000 7 20 0 0 0.003080 0 0 COL6A3 1293 broad.mit.edu 37 2 238249496 238249496 + Missense_Mutation SNP G G A TCGA-BF-A1PV-01A-11D-A19A-08 TCGA-BF-A1PV-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0db1b3b6-b61c-4718-9cbf-65550d399bc7 792d1c6e-02b2-442b-a36e-d5a4afa5a6aa g.chr2:238249496G>A ENST00000295550.4 - 38 8515 c.8063C>T c.(8062-8064)tCc>tTc p.S2688F COL6A3_ENST00000347401.3_Missense_Mutation_p.S2487F|COL6A3_ENST00000346358.4_Missense_Mutation_p.S2488F|COL6A3_ENST00000472056.1_Missense_Mutation_p.S2081F|COL6A3_ENST00000353578.4_Missense_Mutation_p.S2482F|COL6A3_ENST00000409809.1_Missense_Mutation_p.S2482F NM_004369.3 NP_004360.2 P12111 CO6A3_HUMAN collagen, type VI, alpha 3 2688 Nonhelical region.|VWFA 12. axon guidance|cell adhesion|muscle organ development collagen type VI|extracellular space serine-type endopeptidase inhibitor activity breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4) 217 Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203) Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034) GTCAGTCAGGGAGAATTCCAC 0.582000 22 28 0 0 0.001882 0 0 NPBWR2 2832 broad.mit.edu 37 20 62737760 62737760 + Missense_Mutation SNP C C T TCGA-BF-A1PV-01A-11D-A19A-08 TCGA-BF-A1PV-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0db1b3b6-b61c-4718-9cbf-65550d399bc7 792d1c6e-02b2-442b-a36e-d5a4afa5a6aa g.chr20:62737760C>T ENST00000369768.1 - 1 764 c.425G>A c.(424-426)cGa>cAa p.R142Q NM_005286.2 NP_005277.2 P48146 NPBW2_HUMAN neuropeptides B/W receptor 2 142 plasma membrane opioid receptor activity|protein binding haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 all_cancers(38;2.58e-11)|all_epithelial(29;6.4e-13)|Lung NSC(23;1.25e-09)|all_lung(23;4.21e-09) CACCAGGTATCGGTCCACGCT 0.647000 16 30 0 0 0.004990 0 0 USH2A 7399 broad.mit.edu 37 1 215813981 215813981 + Missense_Mutation SNP C C T TCGA-BF-A1PV-01A-11D-A19A-08 TCGA-BF-A1PV-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0db1b3b6-b61c-4718-9cbf-65550d399bc7 792d1c6e-02b2-442b-a36e-d5a4afa5a6aa g.chr1:215813981C>T ENST00000366943.2 - 68 15273 c.14887G>A c.(14887-14889)Gag>Aag p.E4963K USH2A_ENST00000307340.3_Missense_Mutation_p.E4963K O75445 USH2A_HUMAN Usher syndrome 2A (autosomal recessive, mild) 4963 Fibronectin type-III 35. 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) AACACGTACTCCTTCAGTTGG 0.547000 HNSCC(13;0.011) 21 14 0 0 0.008871 0 0 CYP2J2 1573 broad.mit.edu 37 1 60366767 60366767 + Missense_Mutation SNP C C T TCGA-BF-A1PV-01A-11D-A19A-08 TCGA-BF-A1PV-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0db1b3b6-b61c-4718-9cbf-65550d399bc7 792d1c6e-02b2-442b-a36e-d5a4afa5a6aa g.chr1:60366767C>T ENST00000371204.3 - 8 1243 c.1200G>A c.(1198-1200)atG>atA p.M400I CYP2J2_ENST00000492633.1_5'UTR NM_000775.2 NP_000766.2 P51589 CP2J2_HUMAN cytochrome P450, family 2, subfamily J, polypeptide 2 400 epoxygenase P450 pathway|linoleic acid metabolic process|regulation of heart contraction|xenobiotic metabolic process endoplasmic reticulum membrane|microsome arachidonic acid 11,12-epoxygenase activity|arachidonic acid 14,15-epoxygenase activity|aromatase activity|electron carrier activity|heme binding|linoleic acid epoxygenase activity NS(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|skin(1) 26 all_cancers(7;0.000396) TGGTCAGGATCATGGTACCCT 0.547000 11 24 0 0 0.002450 0 0 TCEAL4 79921 broad.mit.edu 37 X 102842186 102842186 + Missense_Mutation SNP C C T TCGA-BF-A1PV-01A-11D-A19A-08 TCGA-BF-A1PV-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0db1b3b6-b61c-4718-9cbf-65550d399bc7 792d1c6e-02b2-442b-a36e-d5a4afa5a6aa g.chrX:102842186C>T ENST00000472745.1 + 3 1135 c.583C>T c.(583-585)Cca>Tca p.P195S TCEAL4_ENST00000494801.1_Missense_Mutation_p.P195S|TCEAL4_ENST00000472484.1_Missense_Mutation_p.P195S|TCEAL4_ENST00000468024.1_Missense_Mutation_p.P195S|TCEAL4_ENST00000415568.2_Missense_Mutation_p.P195S|TCEAL4_ENST00000372629.4_Missense_Mutation_p.P338S Q96EI5 TCAL4_HUMAN transcription elongation factor A (SII)-like 4 195 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus endometrium(1)|kidney(1)|large_intestine(2)|skin(2) 6 CCCTAGAGGTCCAAGGGAATT 0.493000 61 75 0 0 0.003610 0 0 PON1 5444 broad.mit.edu 37 7 94953774 94953774 + Missense_Mutation SNP A A G TCGA-BF-A1PV-01A-11D-A19A-08 TCGA-BF-A1PV-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0db1b3b6-b61c-4718-9cbf-65550d399bc7 792d1c6e-02b2-442b-a36e-d5a4afa5a6aa g.chr7:94953774A>G ENST00000222381.3 - 1 245 c.14T>C c.(13-15)aTt>aCt p.I5T PON1_ENST00000542556.1_Intron NM_000446.5 NP_000437.3 P27169 PON1_HUMAN paraoxonase 1 5 aromatic compound catabolic process|carboxylic acid catabolic process|organophosphate catabolic process|phosphatidylcholine metabolic process|positive regulation of binding|positive regulation of cholesterol efflux|positive regulation of transporter activity|response to external stimulus spherical high-density lipoprotein particle aryldialkylphosphatase activity|arylesterase activity|calcium ion binding|phospholipid binding|protein homodimerization activity autonomic_ganglia(1)|endometrium(2)|large_intestine(6)|lung(11)|pancreas(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2) 27 all_cancers(62;1.04e-10)|all_epithelial(64;3.67e-09)|Lung NSC(181;0.239) STAD - Stomach adenocarcinoma(171;0.0031) Atorvastatin(DB01076)|Cefazolin(DB01327) GGTGAGCGCAATCAGCTTCGC 0.622000 12 21 0 0 0.001368 0 0 XDH 7498 broad.mit.edu 37 2 31599977 31599977 + Missense_Mutation SNP C C T TCGA-BF-A1PV-01A-11D-A19A-08 TCGA-BF-A1PV-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0db1b3b6-b61c-4718-9cbf-65550d399bc7 792d1c6e-02b2-442b-a36e-d5a4afa5a6aa g.chr2:31599977C>T ENST00000379416.3 - 14 1417 c.1369G>A c.(1369-1371)Ggt>Agt p.G457S NM_000379.3 NP_000370.2 P47989 XDH_HUMAN xanthine dehydrogenase 457 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) GCCATTCCACCATAGCAAAGG 0.507000 34 42 0 0 0.003755 0 0 PIGG 54872 broad.mit.edu 37 4 520987 520987 + Silent SNP C C T TCGA-BF-A1PV-01A-11D-A19A-08 TCGA-BF-A1PV-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0db1b3b6-b61c-4718-9cbf-65550d399bc7 792d1c6e-02b2-442b-a36e-d5a4afa5a6aa g.chr4:520987C>T ENST00000453061.2 + 10 2335 c.2229C>T c.(2227-2229)ttC>ttT p.F743F PIGG_ENST00000383028.4_Silent_p.F610F|PIGG_ENST00000310340.5_Silent_p.F735F|PIGG_ENST00000296306.7_3'UTR|PIGG_ENST00000504346.1_Silent_p.F654F NM_001127178.1 NP_001120650.1 Q5H8A4 PIGG_HUMAN phosphatidylinositol glycan anchor biosynthesis, class G 743 C-terminal protein lipidation|preassembly of GPI anchor in ER membrane endoplasmic reticulum membrane|integral to membrane CP2 mannose-ethanolamine phosphotransferase activity breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 39 GTGTCCGGTTCCCGTGGCGGC 0.652000 24 28 0 0 0.006320 0 0 GPR112 139378 broad.mit.edu 37 X 135428482 135428482 + Missense_Mutation SNP G G A rs143735478 TCGA-BF-A1PV-01A-11D-A19A-08 TCGA-BF-A1PV-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0db1b3b6-b61c-4718-9cbf-65550d399bc7 792d1c6e-02b2-442b-a36e-d5a4afa5a6aa g.chrX:135428482G>A ENST00000394143.1 + 6 2908 c.2617G>A c.(2617-2619)Gaa>Aaa p.E873K GPR112_ENST00000412101.1_Missense_Mutation_p.E668K|GPR112_ENST00000394141.1_Missense_Mutation_p.E668K|GPR112_ENST00000370652.1_Missense_Mutation_p.E873K|GPR112_ENST00000287534.4_Missense_Mutation_p.E810K NM_153834.3 NP_722576.3 Q8IZF6 GP112_HUMAN G protein-coupled receptor 112 873 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) AGTGACAGACGAATCAGCACA 0.403000 21 15 0 0 0.008871 0 0 AADACL3 126767 broad.mit.edu 37 1 12779546 12779546 + Missense_Mutation SNP C C T TCGA-BF-A1PV-01A-11D-A19A-08 TCGA-BF-A1PV-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0db1b3b6-b61c-4718-9cbf-65550d399bc7 792d1c6e-02b2-442b-a36e-d5a4afa5a6aa g.chr1:12779546C>T ENST00000359318.5 + 2 272 c.67C>T c.(67-69)Ccg>Tcg p.P23S AADACL3_ENST00000332530.3_Intron NM_001103170.1 NP_001096640.1 Q5VUY0 ADCL3_HUMAN arylacetamide deacetylase-like 3 23 hydrolase activity breast(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1) 15 Ovarian(185;0.249) Lung NSC(185;8.27e-05)|all_lung(284;9.47e-05)|Renal(390;0.000147)|Colorectal(325;0.000583)|Breast(348;0.000596)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|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;0.00217)|KIRC - Kidney renal clear cell carcinoma(229;0.00579)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649) AGATCTGCCTCCGCTAAAGTA 0.483000 46 66 0 0 0.002522 0 0 CTNND2 1501 broad.mit.edu 37 5 11159700 11159700 + Missense_Mutation SNP G G A TCGA-BF-A1PV-01A-11D-A19A-08 TCGA-BF-A1PV-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0db1b3b6-b61c-4718-9cbf-65550d399bc7 792d1c6e-02b2-442b-a36e-d5a4afa5a6aa g.chr5:11159700G>A ENST00000304623.8 - 12 2336 c.2147C>T c.(2146-2148)aCc>aTc p.T716I CTNND2_ENST00000511377.1_Missense_Mutation_p.T625I|CTNND2_ENST00000458100.2_Missense_Mutation_p.T283I|CTNND2_ENST00000359640.2_Missense_Mutation_p.T716I|CTNND2_ENST00000503622.1_Missense_Mutation_p.T379I|CTNND2_ENST00000495388.2_5'UTR NM_001332.2 NP_001323.1 Q9UQB3 CTND2_HUMAN catenin (cadherin-associated protein), delta 2 716 multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent adherens junction|cytoplasm|nucleus protein binding NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2) 136 TAGGCACCCGGTGGCGTTACG 0.532000 12 18 0 0 0.003163 0 0 SLC39A5 283375 broad.mit.edu 37 12 56625174 56625174 + Missense_Mutation SNP A A C TCGA-BF-A1PV-01A-11D-A19A-08 TCGA-BF-A1PV-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0db1b3b6-b61c-4718-9cbf-65550d399bc7 792d1c6e-02b2-442b-a36e-d5a4afa5a6aa g.chr12:56625174A>C ENST00000266980.4 + 2 409 c.116A>C c.(115-117)tAc>tCc p.Y39S SLC39A5_ENST00000454355.2_Missense_Mutation_p.Y39S NM_001135195.1 NP_001128667.1 Q6ZMH5 S39A5_HUMAN solute carrier family 39 (zinc transporter), member 5 39 zinc ion transport basolateral plasma membrane|integral to membrane metal ion transmembrane transporter activity NS(1)|cervix(6)|endometrium(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 CAGAACCATTACCTGGCCCAG 0.652000 63 81 0 0 0.003610 0 0 DDX39B 7919 broad.mit.edu 37 6 31500599 31500599 + Missense_Mutation SNP G G C TCGA-BF-A1PV-01A-11D-A19A-08 TCGA-BF-A1PV-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0db1b3b6-b61c-4718-9cbf-65550d399bc7 792d1c6e-02b2-442b-a36e-d5a4afa5a6aa g.chr6:31500599G>C ENST00000417556.2 - 8 1500 c.870C>G c.(868-870)aaC>aaG p.N290K DDX39B_ENST00000396172.1_Missense_Mutation_p.N275K|ATP6V1G2-DDX39B_ENST00000376185.1_3'UTR|DDX39B_ENST00000415382.2_Missense_Mutation_p.N197K|DDX39B_ENST00000458640.1_Missense_Mutation_p.N275K|DDX39B_ENST00000376177.2_Missense_Mutation_p.N275K Q13838 DX39B_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 39B 275 Helicase C-terminal. intronless viral mRNA export from host nucleus|RNA secondary structure unwinding|spliceosome assembly nuclear speck|spliceosomal complex|transcription export complex ATP binding|ATP-dependent protein binding|ATP-dependent RNA helicase activity|identical protein binding|U4 snRNA binding|U6 snRNA binding NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 19 AGAGCTTCCGGTTCTTCTCGT 0.522000 63 40 0 0 0.003610 0 0 FREM1 158326 broad.mit.edu 37 9 14756441 14756441 + Missense_Mutation SNP T T G TCGA-BF-A1PV-01A-11D-A19A-08 TCGA-BF-A1PV-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0db1b3b6-b61c-4718-9cbf-65550d399bc7 792d1c6e-02b2-442b-a36e-d5a4afa5a6aa g.chr9:14756441T>G ENST00000380881.4 - 30 6156 c.5341A>C c.(5341-5343)Aac>Cac p.N1781H FREM1_ENST00000486223.1_5'UTR|FREM1_ENST00000380880.3_Missense_Mutation_p.N1780H|FREM1_ENST00000422223.2_Missense_Mutation_p.N1780H|FREM1_ENST00000380894.1_Missense_Mutation_p.N316H Q5H8C1 FREM1_HUMAN FRAS1 related extracellular matrix 1 1780 Calx-beta. cell communication|multicellular organismal development basement membrane|integral to membrane metal ion binding|sugar binding breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 100 GBM - Glioblastoma multiforme(50;3.53e-06) GACACTTGGTTGACCTTAGGA 0.353000 3 2 0 0 0.004672 0 0 LRRC16B 90668 broad.mit.edu 37 14 24534842 24534842 + Silent SNP G G A TCGA-BF-A1PV-01A-11D-A19A-08 TCGA-BF-A1PV-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0db1b3b6-b61c-4718-9cbf-65550d399bc7 792d1c6e-02b2-442b-a36e-d5a4afa5a6aa g.chr14:24534842G>A ENST00000342740.5 + 34 3562 c.3408G>A c.(3406-3408)ggG>ggA p.G1136G LRRC16B_ENST00000334420.7_Intron NM_138360.3 NP_612369.3 Q8ND23 LR16B_HUMAN leucine rich repeat containing 16B 1136 breast(3)|central_nervous_system(2)|cervix(3)|endometrium(7)|kidney(1)|large_intestine(9)|liver(1)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4) 52 GBM - Glioblastoma multiforme(265;0.019) GCACTGAGGGGTCAGAGCCAG 0.617000 43 68 0 0 0.003610 0 0 NUP155 9631 broad.mit.edu 37 5 37328482 37328482 + Silent SNP G G A rs73749020 TCGA-BF-A1PV-01A-11D-A19A-08 TCGA-BF-A1PV-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0db1b3b6-b61c-4718-9cbf-65550d399bc7 792d1c6e-02b2-442b-a36e-d5a4afa5a6aa g.chr5:37328482G>A ENST00000231498.3 - 17 2057 c.1854C>T c.(1852-1854)tcC>tcT p.S618S NUP155_ENST00000381843.2_Silent_p.S559S|NUP155_ENST00000513532.1_Silent_p.S618S NM_153485.1 NP_705618.1 O75694 NU155_HUMAN nucleoporin 155kDa 618 Pro-rich. carbohydrate metabolic process|glucose transport|mRNA transport|nucleocytoplasmic transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction nuclear membrane|nuclear pore protein binding|structural constituent of nuclear pore|transporter activity endometrium(1)|kidney(16)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 62 all_lung(31;0.000137) COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) TTCCCAAAAAGGATGGATTTG 0.353000 8 9 0 0 0.006214 0 0 SLCO1C1 53919 broad.mit.edu 37 12 20890120 20890120 + Missense_Mutation SNP G G A TCGA-BF-A1PV-01A-11D-A19A-08 TCGA-BF-A1PV-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0db1b3b6-b61c-4718-9cbf-65550d399bc7 792d1c6e-02b2-442b-a36e-d5a4afa5a6aa g.chr12:20890120G>A ENST00000381552.1 + 11 1830 c.1462G>A c.(1462-1464)Gaa>Aaa p.E488K SLCO1C1_ENST00000545102.1_Missense_Mutation_p.E370K|SLCO1C1_ENST00000540354.1_Missense_Mutation_p.E439K|SLCO1C1_ENST00000545604.1_Missense_Mutation_p.E488K|SLCO1C1_ENST00000266509.2_Missense_Mutation_p.E488K Q9NYB5 SO1C1_HUMAN solute carrier organic anion transporter family, member 1C1 488 Kazal-like. sodium-independent organic anion transport integral to membrane|plasma membrane thyroid hormone transmembrane transporter activity NS(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 60 Esophageal squamous(101;0.149) GACAAAATGGGAACCCATGTG 0.378000 6 11 0 0 0.001168 0 0 CSMD1 64478 broad.mit.edu 37 8 2807767 2807767 + Missense_Mutation SNP C C T TCGA-BF-A1PV-01A-11D-A19A-08 TCGA-BF-A1PV-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0db1b3b6-b61c-4718-9cbf-65550d399bc7 792d1c6e-02b2-442b-a36e-d5a4afa5a6aa g.chr8:2807767C>T ENST00000602557.1 - 68 10858 c.10303G>A c.(10303-10305)Gga>Aga p.G3435R CSMD1_ENST00000400186.3_Missense_Mutation_p.G3258R|CSMD1_ENST00000542608.1_Missense_Mutation_p.G3257R|CSMD1_ENST00000537824.1_Missense_Mutation_p.G3434R|CSMD1_ENST00000520002.1_Missense_Mutation_p.G3435R|CSMD1_ENST00000602723.1_Missense_Mutation_p.G3258R Q96PZ7 CSMD1_HUMAN CUB and Sushi multiple domains 1 3435 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) CCATCTAGTCCCCAGTTGTCA 0.433000 15 72 0 0 0.003163 0 0 HNRNPR 10236 broad.mit.edu 37 1 23645128 23645128 + Missense_Mutation SNP G G A TCGA-BF-A1PV-01A-11D-A19A-08 TCGA-BF-A1PV-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0db1b3b6-b61c-4718-9cbf-65550d399bc7 792d1c6e-02b2-442b-a36e-d5a4afa5a6aa g.chr1:23645128G>A ENST00000478691.1 - 7 842 c.571C>T c.(571-573)Cgg>Tgg p.R191W HNRNPR_ENST00000427764.2_Missense_Mutation_p.R251W|HNRNPR_ENST00000426846.2_Missense_Mutation_p.R129W|HNRNPR_ENST00000374616.3_Missense_Mutation_p.R292W|HNRNPR_ENST00000302271.6_Missense_Mutation_p.R289W|HNRNPR_ENST00000606561.1_Missense_Mutation_p.R150W|HNRNPR_ENST00000374612.1_Missense_Mutation_p.R289W NM_001102397.1|NM_001102399.1 NP_001095867.1|NP_001095869.1 O43390 HNRPR_HUMAN heterogeneous nuclear ribonucleoprotein R 289 RRM 1. catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm nucleotide binding|protein binding|RNA binding endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Breast(348;0.00394)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;6.83e-27)|Colorectal(126;6.01e-08)|COAD - Colon adenocarcinoma(152;3.32e-06)|GBM - Glioblastoma multiforme(114;6.69e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|KIRC - Kidney renal clear cell carcinoma(1967;0.00357)|STAD - Stomach adenocarcinoma(196;0.0131)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0875)|LUSC - Lung squamous cell carcinoma(448;0.19) CAGAACCCCCGATTCTTCTTT 0.453000 15 29 0 0 0.006122 0 0 VARS 7407 broad.mit.edu 37 6 31750940 31750940 + Silent SNP G G A TCGA-BF-A1PV-01A-11D-A19A-08 TCGA-BF-A1PV-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0db1b3b6-b61c-4718-9cbf-65550d399bc7 792d1c6e-02b2-442b-a36e-d5a4afa5a6aa g.chr6:31750940G>A ENST00000375663.3 - 14 2135 c.1695C>T c.(1693-1695)atC>atT p.I565I VARS_ENST00000444930.2_Silent_p.I270I NM_006295.2 NP_006286.1 P26640 SYVC_HUMAN valyl-tRNA synthetase 565 translational elongation|valyl-tRNA aminoacylation cytosol ATP binding|protein binding|valine-tRNA ligase activity central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 30 L-Valine(DB00161) GGAATGGGTGGATCACGTTCT 0.552000 86 222 0 0 0.003610 0 0 RFPL1 5988 broad.mit.edu 37 22 29835113 29835113 + Silent SNP G G A TCGA-BF-A1PV-01A-11D-A19A-08 TCGA-BF-A1PV-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0db1b3b6-b61c-4718-9cbf-65550d399bc7 792d1c6e-02b2-442b-a36e-d5a4afa5a6aa g.chr22:29835113G>A ENST00000354373.2 + 1 542 c.333G>A c.(331-333)aaG>aaA p.K111K RFPL1S_ENST00000461286.2_RNA NM_021026.2 NP_066306.2 O75677 RFPL1_HUMAN ret finger protein-like 1 111 B30.2/SPRY. zinc ion binding endometrium(3)|large_intestine(1)|lung(6)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1) 16 CCAAGCTGAAGAAGATTCTGC 0.517000 26 46 0 0 0.007291 0 0 SLC37A3 84255 broad.mit.edu 37 7 140069425 140069425 + Missense_Mutation SNP T T C TCGA-BF-A1PV-01A-11D-A19A-08 TCGA-BF-A1PV-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0db1b3b6-b61c-4718-9cbf-65550d399bc7 792d1c6e-02b2-442b-a36e-d5a4afa5a6aa g.chr7:140069425T>C ENST00000326232.9 - 4 459 c.256A>G c.(256-258)Aca>Gca p.T86A SLC37A3_ENST00000447932.2_Missense_Mutation_p.T86A|SLC37A3_ENST00000340308.3_Missense_Mutation_p.T86A|SLC37A3_ENST00000429996.2_Missense_Mutation_p.T86A|SLC37A3_ENST00000461089.1_5'UTR NM_207113.1 NP_996996.1 Q8NCC5 SPX3_HUMAN solute carrier family 37, member 3 86 carbohydrate transport|transmembrane transport integral to membrane endometrium(4)|kidney(1)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|stomach(3) 24 Melanoma(164;0.0142) GTATCCAGTGTGCCGAGGAAA 0.443000 24 21 0 0 0.001786 0 0 SYT1 6857 broad.mit.edu 37 12 79837936 79837936 + Missense_Mutation SNP C C T TCGA-BF-A1PV-01A-11D-A19A-08 TCGA-BF-A1PV-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0db1b3b6-b61c-4718-9cbf-65550d399bc7 792d1c6e-02b2-442b-a36e-d5a4afa5a6aa g.chr12:79837936C>T ENST00000261205.4 + 10 1669 c.1012C>T c.(1012-1014)Ccc>Tcc p.P338S SYT1_ENST00000552744.1_Missense_Mutation_p.P338S|SYT1_ENST00000457153.2_Missense_Mutation_p.P335S|RP1-78O14.1_ENST00000550268.1_lincRNA|SYT1_ENST00000393240.3_Missense_Mutation_p.P338S NM_005639.2 NP_005630.1 P21579 SYT1_HUMAN synaptotagmin I 338 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 CACACTTAACCCCTACTACAA 0.358000 18 21 0 0 0.006122 0 0 LRRIQ1 84125 broad.mit.edu 37 12 85450857 85450857 + Silent SNP G G A TCGA-BF-A1PV-01A-11D-A19A-08 TCGA-BF-A1PV-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0db1b3b6-b61c-4718-9cbf-65550d399bc7 792d1c6e-02b2-442b-a36e-d5a4afa5a6aa g.chr12:85450857G>A ENST00000393217.2 + 8 2347 c.2286G>A c.(2284-2286)aaG>aaA p.K762K NM_001079910.1 NP_001073379.1 Q96JM4 LRIQ1_HUMAN leucine-rich repeats and IQ motif containing 1 762 breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2) 83 GBM - Glioblastoma multiforme(134;0.212) ATCAACAAAAGAAAATTGTTA 0.378000 20 22 0 0 0.008871 0 0 PARVB 29780 broad.mit.edu 37 22 44395501 44395501 + Silent SNP C C T TCGA-BF-A1PV-01A-11D-A19A-08 TCGA-BF-A1PV-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0db1b3b6-b61c-4718-9cbf-65550d399bc7 792d1c6e-02b2-442b-a36e-d5a4afa5a6aa g.chr22:44395501C>T ENST00000406477.3 + 2 289 c.159C>T c.(157-159)ctC>ctT p.L53L NM_001003828.2 NP_001003828.1 Q9HBI1 PARVB_HUMAN parvin, beta 0 cell adhesion|cell junction assembly cytoskeleton|cytosol|focal adhesion actin binding NS(1)|breast(1)|endometrium(3)|large_intestine(7)|lung(8)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1) 25 Ovarian(80;0.0246)|all_neural(38;0.0423) gttcacttctccctggctcag 0.557000 67 109 0 0 0.003610 0 0 NIN 51199 broad.mit.edu 37 14 51196294 51196294 + Nonsense_Mutation SNP G G A TCGA-BF-A1PV-01A-11D-A19A-08 TCGA-BF-A1PV-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0db1b3b6-b61c-4718-9cbf-65550d399bc7 792d1c6e-02b2-442b-a36e-d5a4afa5a6aa g.chr14:51196294G>A ENST00000245441.5 - 29 6215 c.6025C>T c.(6025-6027)Cag>Tag p.Q2009* NIN_ENST00000382041.3_Nonsense_Mutation_p.Q2009*|NIN_ENST00000453196.1_Nonsense_Mutation_p.Q2009*|NIN_ENST00000389868.3_3'UTR|NIN_ENST00000382043.4_Nonsense_Mutation_p.Q1296*|NIN_ENST00000324330.9_3'UTR|NIN_ENST00000530997.2_Nonsense_Mutation_p.Q2009* NM_020921.3 NP_065972.3 Q8N4C6 NIN_HUMAN ninein (GSK3B interacting protein) 2009 centrosome localization centrosome|microtubule calcium ion binding|GTP binding|protein binding breast(4)|central_nervous_system(1)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(13)|lung(16)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5) 71 all_epithelial(31;0.00244)|Breast(41;0.127) TGCAGGTGCTGGTTTATCCTT 0.517000 T PDGFRB MPD 12 21 0 0 0.002450 0 0 ARHGEF10 9639 broad.mit.edu 37 8 1857613 1857613 + Missense_Mutation SNP C C T TCGA-BF-A1PV-01A-11D-A19A-08 TCGA-BF-A1PV-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0db1b3b6-b61c-4718-9cbf-65550d399bc7 792d1c6e-02b2-442b-a36e-d5a4afa5a6aa g.chr8:1857613C>T ENST00000518288.1 + 19 2355 c.2192C>T c.(2191-2193)gCc>gTc p.A731V ARHGEF10_ENST00000262112.6_Missense_Mutation_p.A732V|ARHGEF10_ENST00000398564.1_Missense_Mutation_p.A732V|ARHGEF10_ENST00000349830.3_Missense_Mutation_p.A707V|ARHGEF10_ENST00000520359.1_Missense_Mutation_p.A669V O15013 ARHGA_HUMAN Rho guanine nucleotide exchange factor (GEF) 10 732 centrosome duplication|myelination in peripheral nervous system|positive regulation of GTP catabolic process|positive regulation of stress fiber assembly|regulation of Rho protein signal transduction|spindle assembly involved in mitosis centrosome|cytosol|soluble fraction kinesin binding|Rho guanyl-nucleotide exchange factor activity endometrium(3)|large_intestine(11)|lung(11)|prostate(3)|skin(3)|stomach(3)|urinary_tract(1) 35 Colorectal(14;3.46e-05)|Renal(68;0.000518)|Ovarian(12;0.00409)|Myeloproliferative disorder(644;0.0255)|Hepatocellular(245;0.0834) COAD - Colon adenocarcinoma(149;1.62e-05)|BRCA - Breast invasive adenocarcinoma(11;1.68e-05)|KIRC - Kidney renal clear cell carcinoma(542;0.00361)|READ - Rectum adenocarcinoma(644;0.0718) GAGAGCCTGGCCGTGGTTGCT 0.622000 29 91 0 0 0.001786 0 0 SLC10A2 6555 broad.mit.edu 37 13 103698526 103698526 + Missense_Mutation SNP G G A TCGA-BF-A1PV-01A-11D-A19A-08 TCGA-BF-A1PV-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0db1b3b6-b61c-4718-9cbf-65550d399bc7 792d1c6e-02b2-442b-a36e-d5a4afa5a6aa g.chr13:103698526G>A ENST00000245312.3 - 6 1600 c.1004C>T c.(1003-1005)tCg>tTg p.S335L NM_000452.2 NP_000443.1 Q12908 NTCP2_HUMAN solute carrier family 10 (sodium/bile acid cotransporter), member 2 335 bile acid metabolic process|organic anion transport integral to plasma membrane bile acid:sodium symporter activity breast(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 all_neural(89;0.0662)|Medulloblastoma(90;0.163)|Lung SC(71;0.211) CTTATAAAACGATGACTCTGG 0.373000 6 7 0 0 0.001984 0 0 SVEP1 79987 broad.mit.edu 37 9 113170312 113170312 + Missense_Mutation SNP G G A TCGA-BF-A1PV-01A-11D-A19A-08 TCGA-BF-A1PV-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0db1b3b6-b61c-4718-9cbf-65550d399bc7 792d1c6e-02b2-442b-a36e-d5a4afa5a6aa g.chr9:113170312G>A ENST00000401783.2 - 38 7904 c.7568C>T c.(7567-7569)tCt>tTt p.S2523F SVEP1_ENST00000374469.1_Missense_Mutation_p.S2500F|SVEP1_ENST00000297826.5_Missense_Mutation_p.S449F NM_153366.3 NP_699197.3 Q4LDE5 SVEP1_HUMAN sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1 2523 Sushi 19. 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 TCGGTTGCAAGAGTAGGTAAC 0.483000 13 5 0 0 0.001368 0 0 SERPINI1 5274 broad.mit.edu 37 3 167510406 167510406 + Silent SNP G G A TCGA-BF-A1PV-01A-11D-A19A-08 TCGA-BF-A1PV-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0db1b3b6-b61c-4718-9cbf-65550d399bc7 792d1c6e-02b2-442b-a36e-d5a4afa5a6aa g.chr3:167510406G>A ENST00000295777.5 + 4 941 c.510G>A c.(508-510)agG>agA p.R170R SERPINI1_ENST00000446050.2_Silent_p.R170R NM_005025.4 NP_005016.1 Q99574 NEUS_HUMAN serpin peptidase inhibitor, clade I (neuroserpin), member 1 170 central nervous system development|peripheral nervous system development|regulation of proteolysis extracellular region serine-type endopeptidase inhibitor activity NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(7)|skin(2) 20 TATCCCCAAGGGATTTTGATG 0.383000 8 11 0 0 0.003080 0 0 HTR3E 285242 broad.mit.edu 37 3 183824092 183824092 + Missense_Mutation SNP G G A TCGA-BF-A1PV-01A-11D-A19A-08 TCGA-BF-A1PV-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0db1b3b6-b61c-4718-9cbf-65550d399bc7 792d1c6e-02b2-442b-a36e-d5a4afa5a6aa g.chr3:183824092G>A ENST00000415389.2 + 8 1568 c.1102G>A c.(1102-1104)Gaa>Aaa p.E368K HTR3E_ENST00000440596.2_Missense_Mutation_p.E394K|HTR3E_ENST00000436361.2_Missense_Mutation_p.E368K|HTR3E_ENST00000425359.2_Missense_Mutation_p.E353K|HTR3E_ENST00000335304.2_Missense_Mutation_p.E383K NM_001256613.1|NM_198313.2 NP_001243542.1|NP_938055.1 A5X5Y0 5HT3E_HUMAN 5-hydroxytryptamine (serotonin) receptor 3E, ionotropic 368 integral to membrane|plasma membrane|postsynaptic membrane extracellular ligand-gated ion channel activity|receptor activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(20)|ovary(1)|skin(2)|upper_aerodigestive_tract(2) 40 all_cancers(143;1.46e-10)|Ovarian(172;0.0303) Epithelial(37;7.06e-36)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22) GCCCCAGAAGGAAAATAAGGG 0.667000 11 8 0 0 0.001368 0 0 PCDHA12 56137 broad.mit.edu 37 5 140255890 140255890 + Missense_Mutation SNP C C T TCGA-BF-A1PV-01A-11D-A19A-08 TCGA-BF-A1PV-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0db1b3b6-b61c-4718-9cbf-65550d399bc7 792d1c6e-02b2-442b-a36e-d5a4afa5a6aa g.chr5:140255890C>T ENST00000398631.2 + 1 833 c.833C>T c.(832-834)tCc>tTc p.S278F PCDHA8_ENST00000531613.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA1_ENST00000504120.2_Intron NM_018903.2|NM_031864.1 NP_061726.1|NP_114070.1 p.S278F(2) NS(4)|breast(2)|cervix(1)|endometrium(19)|kidney(8)|large_intestine(8)|liver(2)|lung(25)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1) 78 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GGAGAAATTTCCTATGGGATC 0.368000 75 88 0 0 0.003610 0 0 TTN 7273 broad.mit.edu 37 2 179452725 179452725 + Missense_Mutation SNP C C T TCGA-BF-A1PV-01A-11D-A19A-08 TCGA-BF-A1PV-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0db1b3b6-b61c-4718-9cbf-65550d399bc7 792d1c6e-02b2-442b-a36e-d5a4afa5a6aa g.chr2:179452725C>T ENST00000589042.1 - 305 63633 c.63409G>A c.(63409-63411)Gaa>Aaa p.E21137K TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.E19496K|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.E12072K|TTN_ENST00000342992.6_Missense_Mutation_p.E18569K|TTN-AS1_ENST00000590743.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.E12264K|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.E12197K|TTN-AS1_ENST00000589907.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 19496 Fibronectin type-III 53. 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) TCCTGGTTTTCATCCAAGCTG 0.468000 5 1 0 0 0.000602 0 0 PPM1A 5494 broad.mit.edu 37 14 60712730 60712730 + Missense_Mutation SNP G G A TCGA-BF-A1PV-01A-11D-A19A-08 TCGA-BF-A1PV-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0db1b3b6-b61c-4718-9cbf-65550d399bc7 792d1c6e-02b2-442b-a36e-d5a4afa5a6aa g.chr14:60712730G>A ENST00000325642.3 + 1 261 c.165G>A c.(163-165)atG>atA p.M55I CTD-2184C24.2_ENST00000529171.1_RNA|PPM1A_ENST00000529574.1_5'UTR NM_177952.2 NP_808821.2 P35813 PPM1A_HUMAN protein phosphatase, Mg2+/Mn2+ dependent, 1A 67 cell cycle arrest|insulin receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription, DNA-dependent|positive regulation of Wnt receptor signaling pathway|protein dephosphorylation|Wnt receptor signaling pathway cytosol|nucleus|protein serine/threonine phosphatase complex magnesium ion binding|manganese ion binding|protein serine/threonine phosphatase activity|signal transducer activity cervix(1)|endometrium(1)|large_intestine(8)|lung(2)|skin(1)|upper_aerodigestive_tract(1) 14 OV - Ovarian serous cystadenocarcinoma(108;0.046) gaAACCAAATGAAGAGGATGT 0.403000 4 6 0 0 0.001168 0 0 RCBTB1 55213 broad.mit.edu 37 13 50140769 50140769 + Missense_Mutation SNP G G A TCGA-BF-A1PV-01A-11D-A19A-08 TCGA-BF-A1PV-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0db1b3b6-b61c-4718-9cbf-65550d399bc7 792d1c6e-02b2-442b-a36e-d5a4afa5a6aa g.chr13:50140769G>A ENST00000378302.2 - 4 522 c.262C>T c.(262-264)Ctt>Ttt p.L88F RCBTB1_ENST00000546015.1_Missense_Mutation_p.L88F|RCBTB1_ENST00000258646.3_Missense_Mutation_p.L88F NM_018191.3 NP_060661.3 Q8NDN9 RCBT1_HUMAN regulator of chromosome condensation (RCC1) and BTB (POZ) domain containing protein 1 88 cell cycle|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|urinary_tract(1) 16 Lung NSC(96;2.1e-05)|Breast(56;0.00015)|Prostate(109;0.00314)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19) KIRC - Kidney renal clear cell carcinoma(9;0.206) GBM - Glioblastoma multiforme(99;4.7e-09) GTGCTGAGAAGAACATGTGGT 0.433000 30 46 0 0 0.001786 0 0 SERPINA11 256394 broad.mit.edu 37 14 94909486 94909486 + Missense_Mutation SNP G G A TCGA-BF-A1PV-01A-11D-A19A-08 TCGA-BF-A1PV-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0db1b3b6-b61c-4718-9cbf-65550d399bc7 792d1c6e-02b2-442b-a36e-d5a4afa5a6aa g.chr14:94909486G>A ENST00000334708.3 - 4 1058 c.994C>T c.(994-996)Ctc>Ttc p.L332F RP11-349I1.2_ENST00000536735.1_RNA NM_001080451.1 NP_001073920.1 Q86U17 SPA11_HUMAN serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 11 332 regulation of proteolysis extracellular region serine-type endopeptidase inhibitor activity breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(14)|skin(1)|upper_aerodigestive_tract(1) 24 COAD - Colon adenocarcinoma(157;0.211) ATGTTGGTGAGACCAATTTGG 0.438000 24 19 0 0 0.002299 0 0 PLEKHA4 57664 broad.mit.edu 37 19 49340728 49340728 + Missense_Mutation SNP G G A TCGA-BF-A1PV-01A-11D-A19A-08 TCGA-BF-A1PV-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0db1b3b6-b61c-4718-9cbf-65550d399bc7 792d1c6e-02b2-442b-a36e-d5a4afa5a6aa g.chr19:49340728G>A ENST00000263265.6 - 20 2713 c.2158C>T c.(2158-2160)Ccc>Tcc p.P720S PLEKHA4_ENST00000355496.5_3'UTR NM_020904.2 NP_065955.2 Q9H4M7 PKHA4_HUMAN pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 4 720 cytoplasm|membrane 1-phosphatidylinositol binding NS(1)|breast(5)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|prostate(3)|skin(2)|urinary_tract(2) 30 all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;0.000108)|all_neural(266;0.0506)|Ovarian(192;0.113) OV - Ovarian serous cystadenocarcinoma(262;0.00027)|all cancers(93;0.00084)|GBM - Glioblastoma multiforme(486;0.0244)|Epithelial(262;0.0364) GATCTGGGGGGAGGGGTCTCC 0.687000 42 63 0 0 0.003610 0 0 CHST1 8534 broad.mit.edu 37 11 45671313 45671313 + Silent SNP G G A TCGA-BF-A1PV-01A-11D-A19A-08 TCGA-BF-A1PV-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0db1b3b6-b61c-4718-9cbf-65550d399bc7 792d1c6e-02b2-442b-a36e-d5a4afa5a6aa g.chr11:45671313G>A ENST00000308064.2 - 4 1831 c.1161C>T c.(1159-1161)atC>atT p.I387I NM_003654.5 NP_003645.1 O43916 CHST1_HUMAN carbohydrate (keratan sulfate Gal-6) sulfotransferase 1 387 galactose metabolic process|inflammatory response|keratan sulfate metabolic process Golgi membrane|integral to membrane keratan sulfotransferase activity breast(1)|endometrium(3)|large_intestine(10)|lung(17)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1) 42 GBM - Glioblastoma multiforme(35;3e-06)|BRCA - Breast invasive adenocarcinoma(625;0.0781) CCGAGGCGGCGATCTTGTAGC 0.701000 36 51 0 0 0.007835 0 0 SYT9 143425 broad.mit.edu 37 11 7334957 7334957 + Missense_Mutation SNP C C T TCGA-BF-A1PV-01A-11D-A19A-08 TCGA-BF-A1PV-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0db1b3b6-b61c-4718-9cbf-65550d399bc7 792d1c6e-02b2-442b-a36e-d5a4afa5a6aa g.chr11:7334957C>T ENST00000318881.6 + 3 1066 c.829C>T c.(829-831)Cac>Tac p.H277Y SYT9_ENST00000396716.2_Missense_Mutation_p.H245Y NM_175733.3 NP_783860.1 Q86SS6 SYT9_HUMAN synaptotagmin IX 277 C2 1. cell junction|integral to membrane|synaptic vesicle membrane metal ion binding|transporter activity NS(1)|endometrium(2)|large_intestine(9)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 38 Epithelial(150;1.34e-07)|LUSC - Lung squamous cell carcinoma(625;0.0949) GACTAAAGTTCACAGAAAGAC 0.433000 17 38 0 0 0.004990 0 0 C6orf165 154313 broad.mit.edu 37 6 88123580 88123580 + Missense_Mutation SNP A A G TCGA-BF-A1PV-01A-11D-A19A-08 TCGA-BF-A1PV-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0db1b3b6-b61c-4718-9cbf-65550d399bc7 792d1c6e-02b2-442b-a36e-d5a4afa5a6aa g.chr6:88123580A>G ENST00000507897.1 + 4 328 c.245A>G c.(244-246)aAg>aGg p.K82R C6ORF165_ENST00000369562.4_Missense_Mutation_p.K82R Q8IYR0 CF165_HUMAN chromosome 6 open reading frame 165 82 NS(1)|central_nervous_system(1)|large_intestine(5)|lung(8)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 all_cancers(76;3.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;3.51e-09)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00575) BRCA - Breast invasive adenocarcinoma(108;0.0419) GACACTATTAAGATGCAAGTC 0.328000 15 9 0 0 0.006122 0 0 SVOPL 136306 broad.mit.edu 37 7 138312175 138312175 + Silent SNP G G A TCGA-BF-A1PV-01A-11D-A19A-08 TCGA-BF-A1PV-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0db1b3b6-b61c-4718-9cbf-65550d399bc7 792d1c6e-02b2-442b-a36e-d5a4afa5a6aa g.chr7:138312175G>A ENST00000421622.1 - 8 949 c.741C>T c.(739-741)ttC>ttT p.F247F SVOPL_ENST00000436657.1_Silent_p.F215F|SVOPL_ENST00000419765.3_Silent_p.F367F|SVOPL_ENST00000463557.1_5'UTR|SVOPL_ENST00000288513.5_Silent_p.F215F Q8N434 SVOPL_HUMAN SVOP-like 367 integral to membrane transmembrane transporter activity NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3) 19 GTCTTCCCAGGAAATTGATGC 0.403000 3 6 0 0 0.000602 0 0 RNF148 378925 broad.mit.edu 37 7 122342642 122342642 + Missense_Mutation SNP C C T TCGA-BF-A1PV-01A-11D-A19A-08 TCGA-BF-A1PV-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0db1b3b6-b61c-4718-9cbf-65550d399bc7 792d1c6e-02b2-442b-a36e-d5a4afa5a6aa g.chr7:122342642C>T ENST00000434824.1 - 1 379 c.163G>A c.(163-165)Gaa>Aaa p.E55K CADPS2_ENST00000412584.2_Intron|RNF148_ENST00000447240.1_Intron|CADPS2_ENST00000313070.7_Intron|CADPS2_ENST00000334010.7_Intron|CADPS2_ENST00000449022.2_Intron NM_198085.1 NP_932351.1 Q8N7C7 RN148_HUMAN ring finger protein 148 55 integral to membrane zinc ion binding endometrium(2)|kidney(1)|large_intestine(6)|lung(7) 16 TCTCCTAATTCCGATGTGATC 0.448000 5 10 0 0 0.001168 0 0 MIR124-2HG 100130155 broad.mit.edu 37 8 65291803 65291803 + RNA SNP G G A TCGA-BF-A1PV-01A-11D-A19A-08 TCGA-BF-A1PV-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0db1b3b6-b61c-4718-9cbf-65550d399bc7 792d1c6e-02b2-442b-a36e-d5a4afa5a6aa g.chr8:65291803G>A ENST00000521441.1 + 0 655 MIR124-2_ENST00000385081.1_RNA GGAGCCTACGGCTGCACTTGA 0.498000 8 46 0 0 0.004482 0 0 TLR7 51284 broad.mit.edu 37 X 12906165 12906165 + Silent SNP C C T TCGA-BF-A1PV-01A-11D-A19A-08 TCGA-BF-A1PV-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0db1b3b6-b61c-4718-9cbf-65550d399bc7 792d1c6e-02b2-442b-a36e-d5a4afa5a6aa g.chrX:12906165C>T ENST00000380659.3 + 3 2677 c.2538C>T c.(2536-2538)tcC>tcT p.S846S NM_016562.3 NP_057646.1 Q9NYK1 TLR7_HUMAN toll-like receptor 7 846 cellular response to mechanical stimulus|defense response to virus|I-kappaB phosphorylation|inflammatory response|innate immune response|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus early phagosome|endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosome|plasma membrane double-stranded RNA binding|single-stranded RNA binding|siRNA binding|transmembrane receptor activity NS(1)|breast(4)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 44 Imiquimod(DB00724) TCTCACTTTCCATATCTGTAT 0.448000 23 40 0 0 0.004656 0 0 GPLD1 2822 broad.mit.edu 37 6 24447092 24447092 + Silent SNP C C T TCGA-BF-A1PV-01A-11D-A19A-08 TCGA-BF-A1PV-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0db1b3b6-b61c-4718-9cbf-65550d399bc7 792d1c6e-02b2-442b-a36e-d5a4afa5a6aa g.chr6:24447092C>T ENST00000230036.1 - 18 1904 c.1794G>A c.(1792-1794)ggG>ggA p.G598G NM_001503.3 NP_001494.2 P80108 PHLD_HUMAN glycosylphosphatidylinositol specific phospholipase D1 598 extracellular region glycosylphosphatidylinositol phospholipase D activity breast(3)|endometrium(5)|kidney(1)|large_intestine(11)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1) 32 AGGTCGGGCTCCCAACCAACA 0.577000 16 40 0 0 0.007413 0 0 ZSCAN23 222696 broad.mit.edu 37 6 28403731 28403731 + Nonsense_Mutation SNP G G A TCGA-BF-A1PV-01A-11D-A19A-08 TCGA-BF-A1PV-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0db1b3b6-b61c-4718-9cbf-65550d399bc7 792d1c6e-02b2-442b-a36e-d5a4afa5a6aa g.chr6:28403731G>A ENST00000289788.4 - 2 458 c.313C>T c.(313-315)Cag>Tag p.Q105* ZSCAN23_ENST00000486481.1_Intron NM_001012455.1 NP_001012458.1 Q3MJ62 ZSC23_HUMAN zinc finger and SCAN domain containing 23 105 SCAN box. viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|prostate(1)|stomach(2) 4 ACCCAGGCCTGGAGCTCCTCA 0.592000 5 19 0 0 0.001168 0 0 IFRD2 7866 broad.mit.edu 37 3 50327709 50327709 + Missense_Mutation SNP C C T TCGA-BF-A1PV-01A-11D-A19A-08 TCGA-BF-A1PV-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0db1b3b6-b61c-4718-9cbf-65550d399bc7 792d1c6e-02b2-442b-a36e-d5a4afa5a6aa g.chr3:50327709C>T ENST00000436390.1 - 7 777 c.280G>A c.(280-282)Ggt>Agt p.G94S IFRD2_ENST00000429673.2_Missense_Mutation_p.G158S|IFRD2_ENST00000417626.2_Missense_Mutation_p.G94S|IFRD2_ENST00000484043.1_5'UTR|IFRD2_ENST00000336089.4_Missense_Mutation_p.G260S Q12894 IFRD2_HUMAN interferon-related developmental regulator 2 158 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) TCAAGAGCACCCTGCCGGGTC 0.652000 13 11 0 0 0.002450 0 0 CSMD1 64478 broad.mit.edu 37 8 3889491 3889491 + Silent SNP G G A TCGA-BF-A1PV-01A-11D-A19A-08 TCGA-BF-A1PV-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0db1b3b6-b61c-4718-9cbf-65550d399bc7 792d1c6e-02b2-442b-a36e-d5a4afa5a6aa g.chr8:3889491G>A ENST00000602557.1 - 4 1101 c.546C>T c.(544-546)atC>atT p.I182I CSMD1_ENST00000400186.3_Silent_p.I182I|CSMD1_ENST00000542608.1_Silent_p.I182I|CSMD1_ENST00000537824.1_Silent_p.I182I|CSMD1_ENST00000520002.1_Silent_p.I182I|CSMD1_ENST00000602723.1_Silent_p.I182I|CSMD1_ENST00000539096.1_Silent_p.I182I Q96PZ7 CSMD1_HUMAN CUB and Sushi multiple domains 1 182 Sushi 1. 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) TGCAGGTCAGGATGGCGTGGC 0.542000 14 42 0 0 0.002450 0 0 GPR111 222611 broad.mit.edu 37 6 47650081 47650081 + Missense_Mutation SNP C C T TCGA-BF-A1PV-01A-11D-A19A-08 TCGA-BF-A1PV-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0db1b3b6-b61c-4718-9cbf-65550d399bc7 792d1c6e-02b2-442b-a36e-d5a4afa5a6aa g.chr6:47650081C>T ENST00000398742.2 + 5 1631 c.1582C>T c.(1582-1584)Ctc>Ttc p.L528F GPR111_ENST00000296862.1_Missense_Mutation_p.L596F|GPR111_ENST00000507065.1_Missense_Mutation_p.L528F Q8IZF7 GP111_HUMAN G protein-coupled receptor 111 596 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(2)|lung(15)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 29 GATCTGCTGGCTCAACTGGGA 0.527000 13 9 0 0 0.001855 0 0 ARID5B 84159 broad.mit.edu 37 10 63700073 63700073 + Silent SNP G G A TCGA-BF-A1PV-01A-11D-A19A-08 TCGA-BF-A1PV-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0db1b3b6-b61c-4718-9cbf-65550d399bc7 792d1c6e-02b2-442b-a36e-d5a4afa5a6aa g.chr10:63700073G>A ENST00000279873.7 + 3 818 c.408G>A c.(406-408)agG>agA p.R136R NM_032199.2 NP_115575.1 Q14865 ARI5B_HUMAN AT rich interactive domain 5B (MRF1-like) 136 liver development|negative regulation of transcription, DNA-dependent|positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent protein binding|transcription regulatory region DNA binding NS(1)|breast(2)|endometrium(13)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 44 Prostate(12;0.016)|all_hematologic(501;0.215) CCTTGGGAAGGAATGGACAGA 0.488000 8 8 0 0 0.003080 0 0 IQSEC3 440073 broad.mit.edu 37 12 247568 247568 + Silent SNP C C T TCGA-BF-A1PV-01A-11D-A19A-08 TCGA-BF-A1PV-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0db1b3b6-b61c-4718-9cbf-65550d399bc7 792d1c6e-02b2-442b-a36e-d5a4afa5a6aa g.chr12:247568C>T ENST00000538872.1 + 4 1157 c.1039C>T c.(1039-1041)Ctg>Ttg p.L347L RP11-598F7.4_ENST00000505893.2_RNA|IQSEC3_ENST00000326261.4_Silent_p.L347L|IQSEC3_ENST00000382841.2_Silent_p.L44L Q9UPP2 IQEC3_HUMAN IQ motif and Sec7 domain 3 347 regulation of ARF protein signal transduction cytoplasm ARF guanyl-nucleotide exchange factor activity central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 35 all_cancers(10;0.016)|all_lung(10;0.0222)|all_epithelial(11;0.0262)|Lung NSC(10;0.031) OV - Ovarian serous cystadenocarcinoma(31;0.00456) LUAD - Lung adenocarcinoma(1;0.172)|Lung(1;0.179) GGAGAGCCGCCTGCCACGGCG 0.667000 13 9 0 0 0.001855 0 0 HERPUD1 9709 broad.mit.edu 37 16 56977182 56977182 + Missense_Mutation SNP C C T TCGA-BF-A1PV-01A-11D-A19A-08 TCGA-BF-A1PV-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0db1b3b6-b61c-4718-9cbf-65550d399bc7 792d1c6e-02b2-442b-a36e-d5a4afa5a6aa g.chr16:56977182C>T ENST00000439977.2 + 8 1353 c.1156C>T c.(1156-1158)Ccc>Tcc p.P386S HERPUD1_ENST00000344114.4_Missense_Mutation_p.P227S|HERPUD1_ENST00000570273.1_3'UTR|HERPUD1_ENST00000300302.5_Missense_Mutation_p.P385S|HERPUD1_ENST00000379792.2_Missense_Mutation_p.P361S NM_001010989.1|NM_014685.2 NP_001010989.1|NP_055500.1 Q15011 HERP1_HUMAN homocysteine-inducible, endoplasmic reticulum stress-inducible, ubiquitin-like domain member 1 386 endoplasmic reticulum membrane|integral to membrane protein binding cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|stomach(1) 11 TCCAGAAGGCCCCCCAGCCAT 0.527000 T ERG prostate 53 98 0 0 0.003610 0 0 L1TD1 54596 broad.mit.edu 37 1 62672587 62672587 + Missense_Mutation SNP C C T TCGA-BF-A1PV-01A-11D-A19A-08 TCGA-BF-A1PV-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0db1b3b6-b61c-4718-9cbf-65550d399bc7 792d1c6e-02b2-442b-a36e-d5a4afa5a6aa g.chr1:62672587C>T ENST00000498273.1 + 3 582 c.287C>T c.(286-288)tCc>tTc p.S96F NM_001164835.1|NM_019079.4 NP_001158307.1|NP_061952.3 Q5T7N2 LITD1_HUMAN LINE-1 type transposase domain containing 1 96 breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(12)|ovary(2)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1) 35 tcaGAGAACTCCAGTAGTAGG 0.368000 28 38 0 0 0.002096 0 0 ABCC11 85320 broad.mit.edu 37 16 48261785 48261785 + Silent SNP C C T TCGA-BF-A1PV-01A-11D-A19A-08 TCGA-BF-A1PV-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0db1b3b6-b61c-4718-9cbf-65550d399bc7 792d1c6e-02b2-442b-a36e-d5a4afa5a6aa g.chr16:48261785C>T ENST00000394747.1 - 3 676 c.327G>A c.(325-327)cgG>cgA p.R109R ABCC11_ENST00000353782.5_Silent_p.R109R|ABCC11_ENST00000394748.1_Silent_p.R109R|ABCC11_ENST00000356608.2_Silent_p.R109R|ABCC11_ENST00000537808.1_Silent_p.R109R NM_033151.3 NP_149163.2 Q96J66 ABCCB_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 11 109 integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(3)|prostate(2)|skin(5)|urinary_tract(2) 83 all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166) CTAAGCGACTCCGTAAGCTTT 0.552000 21 41 0 0 0.001882 0 0 IGHV3-16 28447 broad.mit.edu 37 14 106622269 106622269 + RNA SNP C C T TCGA-BF-A1PV-01A-11D-A19A-08 TCGA-BF-A1PV-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0db1b3b6-b61c-4718-9cbf-65550d399bc7 792d1c6e-02b2-442b-a36e-d5a4afa5a6aa g.chr14:106622269C>T ENST00000390604.2 - 0 120 CATGTCCACTCACTCAATATC 0.448000 24 21 0 0 0.002780 0 0 FAM221B 392307 broad.mit.edu 37 9 35825669 35825669 + Missense_Mutation SNP C C T TCGA-BF-A1PV-01A-11D-A19A-08 TCGA-BF-A1PV-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0db1b3b6-b61c-4718-9cbf-65550d399bc7 792d1c6e-02b2-442b-a36e-d5a4afa5a6aa g.chr9:35825669C>T ENST00000423537.2 - 2 759 c.490G>A c.(490-492)Gtc>Atc p.V164I TMEM8B_ENST00000377996.1_Intron NM_001012446.3 NP_001012448.2 A6H8Z2 CI128_HUMAN family with sequence similarity 221, member B 164 endometrium(2)|kidney(1)|lung(4) 7 TCCACTTGGACCTGGGATGAA 0.522000 OREG0019180 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 65 64 0 0 0.003610 0 0 OSMR 9180 broad.mit.edu 37 5 38884043 38884043 + Missense_Mutation SNP C C T TCGA-BF-A1PV-01A-11D-A19A-08 TCGA-BF-A1PV-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0db1b3b6-b61c-4718-9cbf-65550d399bc7 792d1c6e-02b2-442b-a36e-d5a4afa5a6aa g.chr5:38884043C>T ENST00000274276.3 + 5 935 c.533C>T c.(532-534)tCc>tTc p.S178F OSMR_ENST00000502536.1_Missense_Mutation_p.S178F NM_003999.2 NP_003990.1 Q99650 OSMR_HUMAN oncostatin M receptor 178 cell proliferation|positive regulation of cell proliferation oncostatin-M receptor complex growth factor binding|oncostatin-M receptor activity NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 46 all_lung(31;0.000365) AATAATGTATCCTGTTATTTG 0.373000 11 16 0 0 0.008291 0 0 ADAMTS13 11093 broad.mit.edu 37 9 136298631 136298631 + Missense_Mutation SNP G G A TCGA-BF-A1PV-01A-11D-A19A-08 TCGA-BF-A1PV-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0db1b3b6-b61c-4718-9cbf-65550d399bc7 792d1c6e-02b2-442b-a36e-d5a4afa5a6aa g.chr9:136298631G>A ENST00000371929.3 + 10 1670 c.1226G>A c.(1225-1227)cGg>cAg p.R409Q ADAMTS13_ENST00000371916.1_3'UTR|ADAMTS13_ENST00000485925.1_Intron|ADAMTS13_ENST00000536611.1_Missense_Mutation_p.R81Q|ADAMTS13_ENST00000355699.2_Missense_Mutation_p.R409Q|ADAMTS13_ENST00000356589.2_Missense_Mutation_p.R378Q NM_139025.3|NM_139027.3 NP_620594.1|NP_620596.2 Q76LX8 ATS13_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 13 409 TSP type-1 1. cell-matrix adhesion|glycoprotein metabolic process|integrin-mediated signaling pathway|peptide catabolic process|platelet activation|protein processing|proteolysis cell surface|proteinaceous extracellular matrix calcium ion binding|integrin binding|metalloendopeptidase activity|zinc ion binding central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(4) 36 OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|Epithelial(140;1.28e-06)|all cancers(34;1.46e-05) ACCAGGAGGCGGCAGTGCAAC 0.627000 4 28 0 0 0.000602 0 0 CXCR3 2833 broad.mit.edu 37 X 70836447 70836447 + Missense_Mutation SNP C C T rs139226823 TCGA-BF-A1PV-01A-11D-A19A-08 TCGA-BF-A1PV-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0db1b3b6-b61c-4718-9cbf-65550d399bc7 792d1c6e-02b2-442b-a36e-d5a4afa5a6aa g.chrX:70836447C>T ENST00000373691.4 - 2 1179 c.1016G>A c.(1015-1017)cGa>cAa p.R339Q CXCR3_ENST00000373693.3_Missense_Mutation_p.R292Q NM_001142797.1 NP_001136269.1 P49682 CXCR3_HUMAN chemokine (C-X-C motif) receptor 3 292 cell adhesion|cellular component movement|chemotaxis|elevation of cytosolic calcium ion concentration cytoplasm|integral to plasma membrane C-X-C chemokine receptor activity breast(1)|central_nervous_system(2)|large_intestine(2)|lung(3)|ovary(2) 10 Renal(35;0.156) CCTGCTTTCTCGGCCACAGTT 0.617000 26 38 0 0 0.001786 0 0 GPC3 2719 broad.mit.edu 37 X 132670265 132670265 + Missense_Mutation SNP G G A TCGA-BF-A1PV-01A-11D-A19A-08 TCGA-BF-A1PV-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0db1b3b6-b61c-4718-9cbf-65550d399bc7 792d1c6e-02b2-442b-a36e-d5a4afa5a6aa g.chrX:132670265G>A ENST00000370818.3 - 8 2075 c.1630C>T c.(1630-1632)Ccg>Tcg p.P544S GPC3_ENST00000543339.1_Missense_Mutation_p.P490S|GPC3_ENST00000394299.2_Missense_Mutation_p.P567S NM_001164618.1|NM_004484.3 NP_001158090.1|NP_004475.1 P51654 GPC3_HUMAN glypican 3 544 extracellular space|integral to plasma membrane|proteinaceous extracellular matrix heparan sulfate proteoglycan binding|peptidyl-dipeptidase inhibitor activity breast(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(17)|prostate(1)|skin(2) 36 Acute lymphoblastic leukemia(192;0.000127) TTGTCCTTCGGAGTTGCCTGC 0.493000 """T, D, Mis, N, F, S""" Wilms tumour Simpson-Golabi-Behmel syndrome 20 24 0 0 0.001882 0 0 TRAV24 28659 broad.mit.edu 37 14 22573656 22573656 + RNA SNP C C T TCGA-BF-A1PV-01A-11D-A19A-08 TCGA-BF-A1PV-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0db1b3b6-b61c-4718-9cbf-65550d399bc7 792d1c6e-02b2-442b-a36e-d5a4afa5a6aa g.chr14:22573656C>T ENST00000390453.1 + 0 37 ATTACTAATCCTCTGGTTTCA 0.458000 12 14 0 0 0.003163 0 0 CHD7 55636 broad.mit.edu 37 8 61654288 61654288 + Silent SNP G G C TCGA-BF-A1PV-01A-11D-A19A-08 TCGA-BF-A1PV-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0db1b3b6-b61c-4718-9cbf-65550d399bc7 792d1c6e-02b2-442b-a36e-d5a4afa5a6aa g.chr8:61654288G>C ENST00000423902.2 + 2 776 c.297G>C c.(295-297)gcG>gcC p.A99A CHD7_ENST00000525508.1_Silent_p.A99A|CHD7_ENST00000524602.1_Silent_p.A99A NM_017780.3 NP_060250.2 Q9P2D1 CHD7_HUMAN chromodomain helicase DNA binding protein 7 99 central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent nucleus ATP binding|chromatin binding|DNA binding|helicase activity NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3) 123 all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477) BRCA - Breast invasive adenocarcinoma(89;0.143) ACGGACTCGCGTCTCCGCACT 0.527000 29 12 0 0 0.001786 0 0 FRMD3 257019 broad.mit.edu 37 9 85958140 85958140 + Missense_Mutation SNP G G A TCGA-BF-A1PV-01A-11D-A19A-08 TCGA-BF-A1PV-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0db1b3b6-b61c-4718-9cbf-65550d399bc7 792d1c6e-02b2-442b-a36e-d5a4afa5a6aa g.chr9:85958140G>A ENST00000304195.3 - 5 643 c.437C>T c.(436-438)tCt>tTt p.S146F FRMD3_ENST00000376438.1_Missense_Mutation_p.S146F NM_001244960.1|NM_174938.5 NP_001231889.1|NP_777598.3 A2A2Y4 FRMD3_HUMAN FERM domain containing 3 146 FERM. cytoplasm|cytoskeleton|extrinsic to membrane|integral to membrane cytoskeletal protein binding breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|liver(1)|lung(15)|ovary(1)|upper_aerodigestive_tract(1) 30 GGCAGCATCAGAAAAGGAGCA 0.478000 14 22 0 0 0.004007 0 0 NPY4R 5540 broad.mit.edu 37 10 47087692 47087692 + Silent SNP C C T rs138885771 byFrequency TCGA-BF-A1PV-01A-11D-A19A-08 TCGA-BF-A1PV-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0db1b3b6-b61c-4718-9cbf-65550d399bc7 792d1c6e-02b2-442b-a36e-d5a4afa5a6aa g.chr10:47087692C>T ENST00000374312.1 + 3 1328 c.909C>T c.(907-909)atC>atT p.I303I NPY4R_ENST00000395716.1_Silent_p.I303I NM_005972.4 NP_005963.3 neuropeptide Y receptor Y4 GGAACCTCATCTTCTTAGTGT 0.552000 15 66 0 0 0.002450 0 0 TRAF3IP3 80342 broad.mit.edu 37 1 209946292 209946292 + Splice_Site SNP G G A TCGA-BF-A1PV-01A-11D-A19A-08 TCGA-BF-A1PV-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0db1b3b6-b61c-4718-9cbf-65550d399bc7 792d1c6e-02b2-442b-a36e-d5a4afa5a6aa g.chr1:209946292G>A ENST00000367024.1 + 9 1218 c.e9-1 TRAF3IP3_ENST00000400959.3_Splice_Site|TRAF3IP3_ENST00000367023.1_Splice_Site|TRAF3IP3_ENST00000367025.3_Splice_Site|TRAF3IP3_ENST00000367026.3_Splice_Site|TRAF3IP3_ENST00000477431.1_Splice_Site|TRAF3IP3_ENST00000010338.4_Splice_Site Q9Y228 T3JAM_HUMAN TRAF3 interacting protein 3 integral to membrane protein binding breast(2)|endometrium(1)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 32 OV - Ovarian serous cystadenocarcinoma(81;0.045) ATTTGCTCCAGGGACAGCTTA 0.438000 15 10 0 0 0.008871 0 0 RANBP2 5903 broad.mit.edu 37 2 109382668 109382668 + Silent SNP C C T TCGA-BF-A1PV-01A-11D-A19A-08 TCGA-BF-A1PV-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0db1b3b6-b61c-4718-9cbf-65550d399bc7 792d1c6e-02b2-442b-a36e-d5a4afa5a6aa g.chr2:109382668C>T ENST00000283195.6 + 20 5799 c.5673C>T c.(5671-5673)atC>atT p.I1891I NM_006267.4 NP_006258.3 P49792 RBP2_HUMAN RAN binding protein 2 1891 carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction cytosol|nuclear pore peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding RANBP2/ALK(34) NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1) 129 GATTTTCCATCCCTGTGTCTG 0.378000 35 53 0 0 0.004878 0 0 HYDIN 54768 broad.mit.edu 37 16 70926412 70926412 + Missense_Mutation SNP C C T TCGA-BF-A1PV-01A-11D-A19A-08 TCGA-BF-A1PV-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0db1b3b6-b61c-4718-9cbf-65550d399bc7 792d1c6e-02b2-442b-a36e-d5a4afa5a6aa g.chr16:70926412C>T ENST00000393567.2 - 56 9419 c.9269G>A c.(9268-9270)gGg>gAg p.G3090E NM_001270974.1 NP_001257903.1 Q4G0P3 HYDIN_HUMAN HYDIN, axonemal central pair apparatus protein 3090 breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1) 43 Ovarian(137;0.0654) TGTTGAAATCCCTACAGAGTC 0.433000 12 19 0 0 0.002450 0 0 BRCA2 675 broad.mit.edu 37 13 32914692 32914692 + Missense_Mutation SNP C C T rs80359565 TCGA-BF-A1PV-01A-11D-A19A-08 TCGA-BF-A1PV-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0db1b3b6-b61c-4718-9cbf-65550d399bc7 792d1c6e-02b2-442b-a36e-d5a4afa5a6aa g.chr13:32914692C>T ENST00000544455.1 + 11 6427 c.6200C>T c.(6199-6201)tCc>tTc p.S2067F BRCA2_ENST00000380152.3_Missense_Mutation_p.S2067F NM_000059.3 NP_000050.2 P51587 BRCA2_HUMAN breast cancer 2, early onset 2067 cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3) 183 Lung SC(185;0.0262) all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704) AAGCAAGTTTCCATTTTAGAA 0.353000 """D, Mis, N, F, S""" """breast, ovarian, pancreatic""" """breast, ovarian, pancreatic, leukemia (FANCB, FANCD1)""" Homologous recombination Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia TCGA Ovarian(8;0.087) 12 22 0 0 0.001368 0 0 SAMD12 401474 broad.mit.edu 37 8 119391893 119391893 + Silent SNP C C T TCGA-BF-A1PV-01A-11D-A19A-08 TCGA-BF-A1PV-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0db1b3b6-b61c-4718-9cbf-65550d399bc7 792d1c6e-02b2-442b-a36e-d5a4afa5a6aa g.chr8:119391893C>T ENST00000409003.4 - 4 497 c.369G>A c.(367-369)ggG>ggA p.G123G SAMD12_ENST00000314727.4_Silent_p.G123G|AC023590.1_ENST00000430457.1_Intron NM_001101676.1 NP_001095146.1 Q8N8I0 SAM12_HUMAN sterile alpha motif domain containing 12 123 SAM. endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(2) 9 all_cancers(13;3.91e-25)|Lung NSC(37;1.13e-07)|Ovarian(258;0.0249) STAD - Stomach adenocarcinoma(47;0.00391) CCTGGGCAATCCCCATTCGCT 0.478000 11 32 0 0 0.001855 0 0 DTNA 1837 broad.mit.edu 37 18 32345942 32345942 + Missense_Mutation SNP C C T TCGA-BF-A1PV-01A-11D-A19A-08 TCGA-BF-A1PV-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0db1b3b6-b61c-4718-9cbf-65550d399bc7 792d1c6e-02b2-442b-a36e-d5a4afa5a6aa g.chr18:32345942C>T ENST00000283365.9 + 4 436 c.85C>T c.(85-87)Cgc>Tgc p.R29C DTNA_ENST00000598142.1_Missense_Mutation_p.R29C|DTNA_ENST00000598774.1_Missense_Mutation_p.R29C|DTNA_ENST00000399121.5_Missense_Mutation_p.R29C|DTNA_ENST00000399097.3_5'UTR|DTNA_ENST00000595022.1_Missense_Mutation_p.R29C|DTNA_ENST00000399113.3_Missense_Mutation_p.R29C|DTNA_ENST00000269190.7_Missense_Mutation_p.R29C|DTNA_ENST00000598334.1_Missense_Mutation_p.R29C|DTNA_ENST00000348997.5_Missense_Mutation_p.R29C|DTNA_ENST00000269191.6_Missense_Mutation_p.R29C|RP11-138H11.1_ENST00000596954.1_RNA|DTNA_ENST00000596745.1_Missense_Mutation_p.R29C|DTNA_ENST00000444659.1_Missense_Mutation_p.R29C|DTNA_ENST00000315456.6_Missense_Mutation_p.R29C|DTNA_ENST00000554864.3_Missense_Mutation_p.R29C|DTNA_ENST00000597599.1_Missense_Mutation_p.R29C NM_032975.3 NP_116757.2 Q9Y4J8 DTNA_HUMAN dystrobrevin, alpha 29 Interaction with MAGEE1 (By similarity). neuromuscular synaptic transmission|signal transduction|striated muscle contraction cell junction|cytoplasm|synapse calcium ion binding|protein binding|zinc ion binding endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(2)|lung(19)|prostate(1)|upper_aerodigestive_tract(1) 29 AGATCTGGATCGCATCCGACT 0.408000 12 13 0 0 0.004007 0 0 MYPN 84665 broad.mit.edu 37 10 69882042 69882042 + Missense_Mutation SNP G G A TCGA-BF-A1PV-01A-11D-A19A-08 TCGA-BF-A1PV-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0db1b3b6-b61c-4718-9cbf-65550d399bc7 792d1c6e-02b2-442b-a36e-d5a4afa5a6aa g.chr10:69882042G>A ENST00000358913.5 + 2 1335 c.847G>A c.(847-849)Gga>Aga p.G283R MYPN_ENST00000354393.2_Intron|MYPN_ENST00000540630.1_Missense_Mutation_p.G283R|MYPN_ENST00000373675.3_Missense_Mutation_p.G283R NM_001256267.1|NM_032578.3 NP_001243196.1|NP_115967.2 Q86TC9 MYPN_HUMAN myopalladin 283 Ig-like 1.|Interaction with CARP. nucleus|sarcomere actin binding breast(2)|central_nervous_system(1)|endometrium(13)|kidney(6)|large_intestine(13)|liver(1)|lung(43)|ovary(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(5) 94 AGTTCCAGAAGGAACTCGAGT 0.468000 20 22 0 0 0.001523 0 0 GPRIN2 9721 broad.mit.edu 37 10 46999964 46999964 + Missense_Mutation SNP G G T TCGA-BF-A1PV-01A-11D-A19A-08 TCGA-BF-A1PV-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0db1b3b6-b61c-4718-9cbf-65550d399bc7 792d1c6e-02b2-442b-a36e-d5a4afa5a6aa g.chr10:46999964G>T ENST00000374314.4 + 1 2039 c.1084G>T c.(1084-1086)Gtg>Ttg p.V362L GPRIN2_ENST00000374317.1_Missense_Mutation_p.V362L O60269 GRIN2_HUMAN G protein regulated inducer of neurite outgrowth 2 362 breast(2)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(1)|lung(6)|prostate(1) 18 AGCCCTGCATGTGTTCCCAGA 0.672000 24 101 4.26978e-12 4.76009e-12 0.003330 1 0 NBEA 26960 broad.mit.edu 37 13 36229125 36229125 + Silent SNP C C T TCGA-BF-A1PV-01A-11D-A19A-08 TCGA-BF-A1PV-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0db1b3b6-b61c-4718-9cbf-65550d399bc7 792d1c6e-02b2-442b-a36e-d5a4afa5a6aa g.chr13:36229125C>T ENST00000400445.3 + 53 8640 c.8106C>T c.(8104-8106)ttC>ttT p.F2702F NBEA_ENST00000379922.3_Silent_p.F280F|NBEA_ENST00000379939.2_Silent_p.F2699F|NBEA_ENST00000540320.1_Silent_p.F2702F|NBEA_ENST00000537702.1_Silent_p.F495F|NBEA_ENST00000310336.4_Silent_p.F2702F NM_015678.4 NP_056493.3 Q8NFP9 NBEA_HUMAN neurobeachin 2702 cytosol|endomembrane system|plasma membrane|trans-Golgi network protein binding NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 108 Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207) all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199) ATAAGAGCTTCAGAGTTTATT 0.343000 9 8 0 0 0.004482 0 0 SLC6A18 348932 broad.mit.edu 37 5 1240746 1240746 + Missense_Mutation SNP A A G TCGA-BF-A1PV-01A-11D-A19A-08 TCGA-BF-A1PV-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0db1b3b6-b61c-4718-9cbf-65550d399bc7 792d1c6e-02b2-442b-a36e-d5a4afa5a6aa g.chr5:1240746A>G ENST00000324642.3 + 7 1069 c.946A>G c.(946-948)Act>Gct p.T316A SLC6A18_ENST00000296821.4_Intron NM_182632.2 NP_872438.2 Q96N87 S6A18_HUMAN solute carrier family 6 (neutral amino acid transporter), member 18 316 cellular nitrogen compound metabolic process integral to plasma membrane amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity endometrium(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(4)|upper_aerodigestive_tract(1) 34 all_cancers(3;2.99e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.76e-10) Epithelial(17;0.000356)|all cancers(22;0.00124)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185) GTTCAAAGCAACTAATGACTA 0.612000 23 34 0 0 0.004656 0 0 KCNJ3 3760 broad.mit.edu 37 2 155555495 155555495 + Missense_Mutation SNP G G A TCGA-BF-A1PV-01A-11D-A19A-08 TCGA-BF-A1PV-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0db1b3b6-b61c-4718-9cbf-65550d399bc7 792d1c6e-02b2-442b-a36e-d5a4afa5a6aa g.chr2:155555495G>A ENST00000295101.2 + 1 685 c.208G>A c.(208-210)Gac>Aac p.D70N KCNJ3_ENST00000544049.1_Missense_Mutation_p.D70N NM_001260509.1|NM_002239.3 NP_001247438.1|NP_002230.1 P48549 IRK3_HUMAN potassium inwardly-rectifying channel, subfamily J, member 3 70 synaptic transmission voltage-gated potassium channel complex G-protein activated inward rectifier potassium channel activity|protein binding p.D70Y(1) breast(2)|endometrium(2)|kidney(3)|large_intestine(9)|lung(30)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 54 Halothane(DB01159) CTACCTCTCGGACCTCTTCAC 0.592000 16 26 0 0 0.004007 0 0 CXCR2 3579 broad.mit.edu 37 2 218999642 218999642 + Missense_Mutation SNP G G A TCGA-BF-A1PV-01A-11D-A19A-08 TCGA-BF-A1PV-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0db1b3b6-b61c-4718-9cbf-65550d399bc7 792d1c6e-02b2-442b-a36e-d5a4afa5a6aa g.chr2:218999642G>A ENST00000318507.2 + 3 545 c.118G>A c.(118-120)Gaa>Aaa p.E40K NM_001557.3 NP_001548.1 P25025 CXCR2_HUMAN chemokine (C-X-C motif) receptor 2 40 activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|cellular defense response|dendritic cell chemotaxis|inflammatory response|neutrophil activation|neutrophil chemotaxis|positive regulation of cell proliferation cell surface|integral to plasma membrane|mast cell granule interleukin-8 receptor activity breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(11)|skin(1)|stomach(1) 22 CGCCCCATGTGAACCAGAATC 0.468000 48 67 0 0 0.003610 0 0 SPTA1 6708 broad.mit.edu 37 1 158656289 158656289 + Missense_Mutation SNP C C T TCGA-BF-A1PV-01A-11D-A19A-08 TCGA-BF-A1PV-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0db1b3b6-b61c-4718-9cbf-65550d399bc7 792d1c6e-02b2-442b-a36e-d5a4afa5a6aa g.chr1:158656289C>T ENST00000368148.3 - 1 199 c.19G>A c.(19-21)Gaa>Aaa p.E7K SPTA1_ENST00000368147.3_Missense_Mutation_p.E7K NM_003126.2 NP_003117.2 P02549 SPTA1_HUMAN spectrin, alpha, erythrocytic 1 (elliptocytosis 2) 7 actin filament capping|actin filament organization|axon guidance|regulation of cell shape cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton actin filament binding|calcium ion binding|structural constituent of cytoskeleton NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6) 307 all_hematologic(112;0.0378) CTTACGGTTTCCTTTGGAAAT 0.333000 5 4 0 0 0.001168 0 0 KCNA6 3742 broad.mit.edu 37 12 4919931 4919931 + Missense_Mutation SNP G G A TCGA-BF-A1PV-01A-11D-A19A-08 TCGA-BF-A1PV-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0db1b3b6-b61c-4718-9cbf-65550d399bc7 792d1c6e-02b2-442b-a36e-d5a4afa5a6aa g.chr12:4919931G>A ENST00000433855.1 + 1 1590 c.724G>A c.(724-726)Gaa>Aaa p.E242K KCNA6_ENST00000280684.3_Missense_Mutation_p.E242K NM_002235.3 NP_002226.1 P17658 KCNA6_HUMAN potassium voltage-gated channel, shaker-related subfamily, member 6 242 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 CACCCCTGGGGAAATGGGGAC 0.557000 HNSCC(72;0.22) 53 75 0 0 0.003610 0 0 SS18 6760 broad.mit.edu 37 18 23619270 23619270 + Missense_Mutation SNP T T C TCGA-BF-A1PV-01A-11D-A19A-08 TCGA-BF-A1PV-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0db1b3b6-b61c-4718-9cbf-65550d399bc7 792d1c6e-02b2-442b-a36e-d5a4afa5a6aa g.chr18:23619270T>C ENST00000415083.2 - 6 813 c.758A>G c.(757-759)tAt>tGt p.Y253C SS18_ENST00000542743.1_Missense_Mutation_p.Y201C|SS18_ENST00000539849.1_Missense_Mutation_p.Y171C|SS18_ENST00000542420.2_Missense_Mutation_p.Y230C|SS18_ENST00000545952.1_Missense_Mutation_p.Y201C|SS18_ENST00000269137.7_Missense_Mutation_p.Y253C NM_001007559.1|NM_005637.2 NP_001007560.1|NP_005628.2 Q15532 SSXT_HUMAN synovial sarcoma translocation, chromosome 18 253 Gln-rich. positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nucleus ligand-dependent nuclear receptor transcription coactivator activity|protein binding SS18/SSX2(706)|SS18/SSX1(1169)|SS18/SSX4(12) endometrium(1)|kidney(2)|large_intestine(4)|lung(11)|ovary(1) 19 all_cancers(21;0.000194)|Lung NSC(5;0.000413)|all_lung(6;0.00118)|Ovarian(20;0.124) AGGAGGTCTATAGGGAGGAAT 0.408000 T """SSX1, SSX2""" synovial sarcoma 6 43 0 0 0.001168 0 0 OR2W1 26692 broad.mit.edu 37 6 29012041 29012041 + Silent SNP C C T TCGA-BF-A1PV-01A-11D-A19A-08 TCGA-BF-A1PV-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0db1b3b6-b61c-4718-9cbf-65550d399bc7 792d1c6e-02b2-442b-a36e-d5a4afa5a6aa g.chr6:29012041C>T ENST00000377175.1 - 1 976 c.912G>A c.(910-912)ctG>ctA p.L304L NM_030903.3 NP_112165.1 Q9Y3N9 OR2W1_HUMAN olfactory receptor, family 2, subfamily W, member 1 304 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|skin(1) 23 GAAATCTCATCAGTTTCTTCA 0.363000 3 8 0 0 0.000248 0 0 PTCHD1 139411 broad.mit.edu 37 X 23398304 23398304 + Silent SNP G G A TCGA-BF-A1PV-01A-11D-A19A-08 TCGA-BF-A1PV-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0db1b3b6-b61c-4718-9cbf-65550d399bc7 792d1c6e-02b2-442b-a36e-d5a4afa5a6aa g.chrX:23398304G>A ENST00000379361.4 + 2 1808 c.948G>A c.(946-948)ggG>ggA p.G316G NM_173495.2 NP_775766.2 Q96NR3 PTHD1_HUMAN patched domain containing 1 316 SSD. cognition|smoothened signaling pathway integral to membrane|plasma membrane hedgehog receptor activity NS(1)|breast(4)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|ovary(4)|skin(2)|urinary_tract(2) 42 CTGCAGCCGGGATCATCAATC 0.522000 30 52 0 0 0.001786 0 0 FAM13A 10144 broad.mit.edu 37 4 89658687 89658687 + Missense_Mutation SNP C C T TCGA-BF-A1PV-01A-11D-A19A-08 TCGA-BF-A1PV-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0db1b3b6-b61c-4718-9cbf-65550d399bc7 792d1c6e-02b2-442b-a36e-d5a4afa5a6aa g.chr4:89658687C>T ENST00000264344.5 - 21 2789 c.2582G>A c.(2581-2583)cGg>cAg p.R861Q FAM13A_ENST00000513837.1_Missense_Mutation_p.R507Q|FAM13A_ENST00000395002.2_Intron|FAM13A_ENST00000508369.1_Missense_Mutation_p.R535Q|FAM13A_ENST00000503556.1_Missense_Mutation_p.R521Q|FAM13A_ENST00000511976.1_Missense_Mutation_p.R447Q NM_014883.3 NP_055698.2 O94988 FA13A_HUMAN family with sequence similarity 13, member A 861 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 55 AGGGCTTCTCCGCTTGCTGGA 0.537000 13 23 0 0 0.002450 0 0 C3orf20 84077 broad.mit.edu 37 3 14813578 14813578 + Missense_Mutation SNP C C T TCGA-BF-A1PV-01A-11D-A19A-08 TCGA-BF-A1PV-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0db1b3b6-b61c-4718-9cbf-65550d399bc7 792d1c6e-02b2-442b-a36e-d5a4afa5a6aa g.chr3:14813578C>T ENST00000253697.3 + 16 2952 c.2500C>T c.(2500-2502)Ccc>Tcc p.P834S C3orf20_ENST00000435614.1_Missense_Mutation_p.P712S|C3orf20_ENST00000412910.1_Missense_Mutation_p.P712S NM_032137.4 NP_115513.4 Q8ND61 CC020_HUMAN chromosome 3 open reading frame 20 834 cytoplasm|integral to membrane NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(13)|lung(11)|ovary(4)|skin(2) 40 CTGCAGTGTTCCCAACTCTGT 0.577000 29 40 0 0 0.008361 0 0 AVPR2 554 broad.mit.edu 37 X 153170623 153170623 + Splice_Site SNP C C T TCGA-BF-A1PV-01A-11D-A19A-08 TCGA-BF-A1PV-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0db1b3b6-b61c-4718-9cbf-65550d399bc7 792d1c6e-02b2-442b-a36e-d5a4afa5a6aa g.chrX:153170623C>T ENST00000358927.2 + 2 233 c.25_splice c.e2+1 p.S8_splice AVPR2_ENST00000370049.1_Splice_Site_p.S8_splice|AVPR2_ENST00000337474.5_Splice_Site_p.S8_splice P30518 V2R_HUMAN arginine vasopressin receptor 2 8 activation of adenylate cyclase activity|excretion|G-protein signaling, coupled to cAMP nucleotide second messenger|hemostasis|positive regulation of gene expression|transmembrane transport|water transport endoplasmic reticulum|endosome|Golgi apparatus|integral to plasma membrane vasopressin receptor activity breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|skin(1) 26 all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05) Conivaptan(DB00872)|Terlipressin(DB02638)|Vasopressin(DB00067) CCACCACTTCCGGTAAGGCTT 0.597000 41 71 0 0 0.002222 0 0 FAM13A 10144 broad.mit.edu 37 4 89658686 89658686 + Silent SNP C C T TCGA-BF-A1PV-01A-11D-A19A-08 TCGA-BF-A1PV-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0db1b3b6-b61c-4718-9cbf-65550d399bc7 792d1c6e-02b2-442b-a36e-d5a4afa5a6aa g.chr4:89658686C>T ENST00000264344.5 - 21 2790 c.2583G>A c.(2581-2583)cgG>cgA p.R861R FAM13A_ENST00000513837.1_Silent_p.R507R|FAM13A_ENST00000395002.2_Intron|FAM13A_ENST00000508369.1_Silent_p.R535R|FAM13A_ENST00000503556.1_Silent_p.R521R|FAM13A_ENST00000511976.1_Silent_p.R447R NM_014883.3 NP_055698.2 O94988 FA13A_HUMAN family with sequence similarity 13, member A 861 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 55 AAGGGCTTCTCCGCTTGCTGG 0.537000 13 23 0 0 0.002450 0 0 KCNJ5 3762 broad.mit.edu 37 11 128781885 128781885 + Silent SNP C C T TCGA-BF-A1PV-01A-11D-A19A-08 TCGA-BF-A1PV-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0db1b3b6-b61c-4718-9cbf-65550d399bc7 792d1c6e-02b2-442b-a36e-d5a4afa5a6aa g.chr11:128781885C>T ENST00000529694.1 + 2 1093 c.717C>T c.(715-717)atC>atT p.I239I KCNJ5_ENST00000533599.1_Silent_p.I239I|KCNJ5_ENST00000338350.4_Silent_p.I239I NM_000890.3 NP_000881.3 P48544 IRK5_HUMAN potassium inwardly-rectifying channel, subfamily J, member 5 239 synaptic transmission voltage-gated potassium channel complex G-protein activated inward rectifier potassium channel activity|protein binding NS(1)|breast(1)|endometrium(4)|large_intestine(4)|liver(2)|lung(9)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 26 all_hematologic(175;0.0641) Lung NSC(97;0.00038)|all_lung(97;0.000817)|Breast(109;0.00123)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837) OV - Ovarian serous cystadenocarcinoma(99;0.0059)|LUSC - Lung squamous cell carcinoma(976;0.021)|Lung(977;0.0215) Glibenclamide(DB01016) CCAAGCTCATCAAGTCCCGGC 0.612000 44 62 0 0 0.003610 0 0 STRA6 64220 broad.mit.edu 37 15 74486141 74486141 + Splice_Site SNP C C T TCGA-BF-A1PV-01A-11D-A19A-08 TCGA-BF-A1PV-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0db1b3b6-b61c-4718-9cbf-65550d399bc7 792d1c6e-02b2-442b-a36e-d5a4afa5a6aa g.chr15:74486141C>T ENST00000323940.5 - 8 965 c.720_splice c.e8+1 p.K240_splice STRA6_ENST00000574278.1_Splice_Site_p.K255_splice|STRA6_ENST00000574439.1_5'UTR|STRA6_ENST00000563965.1_Splice_Site_p.K279_splice|STRA6_ENST00000535552.1_Splice_Site_p.K277_splice|STRA6_ENST00000449139.2_Splice_Site_p.K240_splice|STRA6_ENST00000423167.2_Splice_Site_p.K231_splice|STRA6_ENST00000416286.3_Splice_Site_p.K232_splice|STRA6_ENST00000395105.4_Splice_Site_p.K240_splice NM_001142617.1|NM_001142618.1|NM_001142619.1 NP_001136089.1|NP_001136090.1|NP_001136091.1 Q9BX79 STRA6_HUMAN stimulated by retinoic acid 6 240 adrenal gland development|alveolar primary septum development|developmental growth|diaphragm development|digestive tract morphogenesis|ear development|embryonic camera-type eye formation|embryonic digestive tract development|eyelid development in camera-type eye|face morphogenesis|feeding behavior|female genitalia development|kidney development|lung vasculature development|neuromuscular process|nose morphogenesis|paramesonephric duct development|positive regulation of behavior|pulmonary artery morphogenesis|pulmonary valve morphogenesis|smooth muscle tissue development|transport|uterus morphogenesis|ventricular septum development|vocal learning integral to membrane|plasma membrane|protein complex receptor activity NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(4)|lung(5)|skin(1)|stomach(2) 26 GCCCCTTTACCTTGGAGCCTG 0.607000 63 59 0 0 0.003610 0 0 CEP350 9857 broad.mit.edu 37 1 180034295 180034295 + Missense_Mutation SNP C C T TCGA-BF-A1PV-01A-11D-A19A-08 TCGA-BF-A1PV-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0db1b3b6-b61c-4718-9cbf-65550d399bc7 792d1c6e-02b2-442b-a36e-d5a4afa5a6aa g.chr1:180034295C>T ENST00000367607.3 + 27 5873 c.5455C>T c.(5455-5457)Cct>Tct p.P1819S NM_014810.4 NP_055625.4 Q5VT06 CE350_HUMAN centrosomal protein 350kDa 1819 centrosome|nucleus|spindle central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 66 GGCAACCAGTCCTGGTCCAAC 0.428000 6 7 0 0 0.001168 0 0 LGALS3BP 3959 broad.mit.edu 37 17 76968666 76968666 + Missense_Mutation SNP G G A TCGA-BF-A1PV-01A-11D-A19A-08 TCGA-BF-A1PV-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0db1b3b6-b61c-4718-9cbf-65550d399bc7 792d1c6e-02b2-442b-a36e-d5a4afa5a6aa g.chr17:76968666G>A ENST00000591778.1 - 5 614 c.497C>T c.(496-498)tCc>tTc p.S166F LGALS3BP_ENST00000262776.3_Silent_p.L250L Q08380 LG3BP_HUMAN lectin, galactoside-binding, soluble, 3 binding protein 0 BTB. cell adhesion|cellular defense response extracellular space|membrane|proteinaceous extracellular matrix protein binding|scavenger receptor activity NS(1)|breast(1)|central_nervous_system(5)|endometrium(3)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 17 BRCA - Breast invasive adenocarcinoma(99;0.0677)|OV - Ovarian serous cystadenocarcinoma(97;0.139) CCTGGGGGAGGAGGATGGCAA 0.617000 61 9 0 0 0.003610 0 0 DCC 1630 broad.mit.edu 37 18 51025778 51025778 + Nonsense_Mutation SNP C C T TCGA-BF-A1PV-01A-11D-A19A-08 TCGA-BF-A1PV-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0db1b3b6-b61c-4718-9cbf-65550d399bc7 792d1c6e-02b2-442b-a36e-d5a4afa5a6aa g.chr18:51025778C>T ENST00000442544.2 + 27 4625 c.4009C>T c.(4009-4011)Cga>Tga p.R1337* DCC_ENST00000581580.1_Nonsense_Mutation_p.R970*|RP11-671P2.1_ENST00000582064.1_RNA NM_005215.3 NP_005206.2 P43146 DCC_HUMAN deleted in colorectal carcinoma 1337 apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development cytosol|integral to membrane NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6) 148 all_cancers(7;0.11)|all_epithelial(6;0.00126) Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942) AGCTTGTGTTCGACCAACTCA 0.532000 13 35 0 0 0.001855 0 0 LOC101928663 101928663 broad.mit.edu 37 6 25261617 25261617 + RNA SNP G G A TCGA-BF-A1PV-01A-11D-A19A-08 TCGA-BF-A1PV-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0db1b3b6-b61c-4718-9cbf-65550d399bc7 792d1c6e-02b2-442b-a36e-d5a4afa5a6aa g.chr6:25261617G>A ENST00000413898.2 - 0 22 TGTTCAAAAAGGAATGCCCCA 0.398000 3 9 0 0 0.004672 0 0 PRUNE2 158471 broad.mit.edu 37 9 79323983 79323983 + Silent SNP A A G TCGA-BF-A1PV-01A-11D-A19A-08 TCGA-BF-A1PV-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0db1b3b6-b61c-4718-9cbf-65550d399bc7 792d1c6e-02b2-442b-a36e-d5a4afa5a6aa g.chr9:79323983A>G ENST00000428286.1 - 8 3330 c.2130T>C c.(2128-2130)gaT>gaC p.D710D PRUNE2_ENST00000376718.3_Silent_p.D1069D Q8WUY3 PRUN2_HUMAN prune homolog 2 (Drosophila) 1069 apoptosis|G1 phase|induction of apoptosis cytoplasm metal ion binding|pyrophosphatase activity endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1) 16 CCCCGACGTCATCCTCCATGG 0.453000 27 23 0 0 0.004656 0 0 KRTAP5-7 440050 broad.mit.edu 37 11 71238729 71238729 + Missense_Mutation SNP A A G TCGA-BF-A1PV-01A-11D-A19A-08 TCGA-BF-A1PV-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0db1b3b6-b61c-4718-9cbf-65550d399bc7 792d1c6e-02b2-442b-a36e-d5a4afa5a6aa g.chr11:71238729A>G ENST00000398536.4 + 1 417 c.383A>G c.(382-384)aAg>aGg p.K128R NM_001012503.1 NP_001012521.1 Q6L8G8 KRA57_HUMAN keratin associated protein 5-7 128 7 X 4 AA repeats of C-C-X-P. keratin filament breast(1)|endometrium(1)|kidney(3)|lung(6)|ovary(1) 12 agctgctgtaagccctgctgc 0.617000 9 203 0 0 0.004482 0 0 GPR112 139378 broad.mit.edu 37 X 135427542 135427542 + Silent SNP C C T TCGA-BF-A1PV-01A-11D-A19A-08 TCGA-BF-A1PV-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0db1b3b6-b61c-4718-9cbf-65550d399bc7 792d1c6e-02b2-442b-a36e-d5a4afa5a6aa g.chrX:135427542C>T ENST00000394143.1 + 6 1968 c.1677C>T c.(1675-1677)ttC>ttT p.F559F GPR112_ENST00000412101.1_Silent_p.F354F|GPR112_ENST00000394141.1_Silent_p.F354F|GPR112_ENST00000370652.1_Silent_p.F559F|GPR112_ENST00000287534.4_Silent_p.F496F NM_153834.3 NP_722576.3 Q8IZF6 GP112_HUMAN G protein-coupled receptor 112 559 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) CCTTTTCTTTCTTAACATCCT 0.403000 5 6 0 0 0.001984 0 0 CTTNBP2 83992 broad.mit.edu 37 7 117431239 117431239 + Missense_Mutation SNP C C T TCGA-BF-A1PV-01A-11D-A19A-08 TCGA-BF-A1PV-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0db1b3b6-b61c-4718-9cbf-65550d399bc7 792d1c6e-02b2-442b-a36e-d5a4afa5a6aa g.chr7:117431239C>T ENST00000160373.3 - 4 2102 c.2011G>A c.(2011-2013)Gtt>Att p.V671I NM_033427.2 NP_219499.1 Q8WZ74 CTTB2_HUMAN cortactin binding protein 2 671 breast(3)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(36)|ovary(4)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 83 Lung NSC(10;0.0018)|all_lung(10;0.002) LUSC - Lung squamous cell carcinoma(290;0.133) GAGGCACTAACGGGGTTTATG 0.498000 25 31 0 0 0.004656 0 0 PASK 23178 broad.mit.edu 37 2 242077394 242077394 + Missense_Mutation SNP G G A TCGA-BF-A1PV-01A-11D-A19A-08 TCGA-BF-A1PV-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0db1b3b6-b61c-4718-9cbf-65550d399bc7 792d1c6e-02b2-442b-a36e-d5a4afa5a6aa g.chr2:242077394G>A ENST00000403638.3 - 6 941 c.850C>T c.(850-852)Cct>Tct p.P284S PASK_ENST00000358649.4_Missense_Mutation_p.P284S|PASK_ENST00000405260.1_Missense_Mutation_p.P284S|PASK_ENST00000539818.1_Missense_Mutation_p.P68S|PASK_ENST00000234040.4_Missense_Mutation_p.P284S|PASK_ENST00000544142.1_Missense_Mutation_p.P98S NM_001252124.1 NP_001239053.1 Q96RG2 PASK_HUMAN PAS domain containing serine/threonine kinase 284 regulation of transcription, DNA-dependent Golgi apparatus ATP binding|identical protein binding|protein serine/threonine kinase activity|signal transducer activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(20)|ovary(4)|prostate(4)|skin(1)|stomach(1)|urinary_tract(2) 53 all_cancers(19;4.46e-39)|all_epithelial(40;1.34e-17)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00481)|Lung NSC(271;0.017)|Ovarian(221;0.0228)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244) Epithelial(32;1.34e-31)|all cancers(36;1e-28)|OV - Ovarian serous cystadenocarcinoma(60;3.53e-14)|Kidney(56;4.31e-09)|KIRC - Kidney renal clear cell carcinoma(57;4.35e-08)|BRCA - Breast invasive adenocarcinoma(100;5.64e-06)|Lung(119;0.000596)|LUSC - Lung squamous cell carcinoma(224;0.00481)|Colorectal(34;0.014)|COAD - Colon adenocarcinoma(134;0.0968) CCAGAAGGAGGGAGCTGCACA 0.562000 29 25 0 0 0.001786 0 0 LRP1B 53353 broad.mit.edu 37 2 141986907 141986907 + Missense_Mutation SNP C C T TCGA-BF-A1PV-01A-11D-A19A-08 TCGA-BF-A1PV-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0db1b3b6-b61c-4718-9cbf-65550d399bc7 792d1c6e-02b2-442b-a36e-d5a4afa5a6aa g.chr2:141986907C>T ENST00000389484.3 - 6 1666 c.695G>A c.(694-696)gGa>gAa p.G232E NM_018557.2 NP_061027.2 Q9NZR2 LRP1B_HUMAN low density lipoprotein receptor-related protein 1B 232 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) AATTTCATTTCCATTGACTGA 0.299000 TSP Lung(27;0.18) 12 6 0 0 0.001368 0 0 NPC1L1 29881 broad.mit.edu 37 7 44571751 44571751 + Silent SNP C C T TCGA-BF-A1PV-01A-11D-A19A-08 TCGA-BF-A1PV-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0db1b3b6-b61c-4718-9cbf-65550d399bc7 792d1c6e-02b2-442b-a36e-d5a4afa5a6aa g.chr7:44571751C>T ENST00000289547.4 - 9 2530 c.2475G>A c.(2473-2475)gaG>gaA p.E825E NPC1L1_ENST00000546276.1_Silent_p.E825E|NPC1L1_ENST00000381160.3_Silent_p.E825E NM_013389.2 NP_037521.2 Q9UHC9 NPCL1_HUMAN NPC1-like 1 825 cholesterol biosynthetic process|intestinal cholesterol absorption|lipoprotein metabolic process apical plasma membrane|cytoplasmic vesicle membrane|integral to membrane hedgehog receptor activity|protein binding breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(7)|lung(27)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 57 Ezetimibe(DB00973) GCAGGAGCCCCTCTCCCTGGC 0.642000 44 51 0 0 0.003610 0 0 ACE 1636 broad.mit.edu 37 17 61560861 61560861 + Missense_Mutation SNP G G A TCGA-BF-A1PV-01A-11D-A19A-08 TCGA-BF-A1PV-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0db1b3b6-b61c-4718-9cbf-65550d399bc7 792d1c6e-02b2-442b-a36e-d5a4afa5a6aa g.chr17:61560861G>A ENST00000290866.4 + 10 1552 c.1528G>A c.(1528-1530)Gaa>Aaa p.E510K ACE_ENST00000584529.1_3'UTR|ACE_ENST00000428043.1_Missense_Mutation_p.E510K|ACE_ENST00000538928.1_Silent_p.T461T NM_000789.3 NP_000780.1 P12821 ACE_HUMAN angiotensin I converting enzyme 510 Peptidase M2 1. arachidonic acid secretion|hormone catabolic process|kidney development|peptide catabolic process|regulation of smooth muscle cell migration endosome|external side of plasma membrane|extracellular space|integral to membrane|membrane fraction|plasma membrane actin binding|bradykinin receptor binding|carboxypeptidase activity|chloride ion binding|drug binding|metallopeptidase activity|peptidyl-dipeptidase activity|zinc ion binding autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(3)|lung(22)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 51 Benazepril(DB00542)|Captopril(DB01197)|Deserpidine(DB01089)|Enalapril(DB00584)|Fosinopril(DB00492)|Lisinopril(DB00722)|Moexipril(DB00691)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Rescinnamine(DB01180)|Spirapril(DB01348)|Trandolapril(DB00519) TACCCGAAACGAAACCCACTT 0.478000 107 15 0 0 0.003610 0 0 PGAP2 27315 broad.mit.edu 37 11 3832517 3832517 + Missense_Mutation SNP C C T TCGA-BF-A1PV-01A-11D-A19A-08 TCGA-BF-A1PV-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0db1b3b6-b61c-4718-9cbf-65550d399bc7 792d1c6e-02b2-442b-a36e-d5a4afa5a6aa g.chr11:3832517C>T ENST00000278243.4 + 2 229 c.28C>T c.(28-30)Cgg>Tgg p.R10W PGAP2_ENST00000396986.2_Missense_Mutation_p.R67W|PGAP2_ENST00000465307.2_Intron|PGAP2_ENST00000479072.1_Intron|PGAP2_ENST00000396993.4_Intron|PGAP2_ENST00000463452.2_Missense_Mutation_p.R10W|PGAP2_ENST00000300730.6_Missense_Mutation_p.R67W|PGAP2_ENST00000396991.2_Missense_Mutation_p.R10W|PGAP2_ENST00000496834.2_Intron|PGAP2_ENST00000532017.1_3'UTR|PGAP2_ENST00000493547.2_Missense_Mutation_p.R10W NM_014489.3 NP_055304.1 Q9UHJ9 PGAP2_HUMAN post-GPI attachment to proteins 2 10 GPI anchor biosynthetic process endoplasmic reticulum membrane|Golgi membrane|integral to membrane protein transporter activity NS(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(2)|urinary_tract(1) 11 ACCACTGGATCGGGATGGGAC 0.607000 29 27 0 0 0.002096 0 0 TMEM26 219623 broad.mit.edu 37 10 63170314 63170314 + Silent SNP C C T TCGA-BF-A1PV-01A-11D-A19A-08 TCGA-BF-A1PV-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0db1b3b6-b61c-4718-9cbf-65550d399bc7 792d1c6e-02b2-442b-a36e-d5a4afa5a6aa g.chr10:63170314C>T ENST00000399298.3 - 6 1241 c.873G>A c.(871-873)gcG>gcA p.A291A TMEM26_ENST00000507507.1_5'UTR NM_178505.6 NP_848600.2 Q6ZUK4 TMM26_HUMAN transmembrane protein 26 291 integral to membrane kidney(1)|large_intestine(2)|lung(11)|prostate(1)|skin(2)|urinary_tract(1) 18 Prostate(12;0.0112) GGAAGTTCTTCGCGGCAAAGA 0.507000 7 5 0 0 0.003080 0 0 YAP1 10413 broad.mit.edu 37 11 102056830 102056830 + Missense_Mutation SNP C C T TCGA-BF-A1PV-01A-11D-A19A-08 TCGA-BF-A1PV-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0db1b3b6-b61c-4718-9cbf-65550d399bc7 792d1c6e-02b2-442b-a36e-d5a4afa5a6aa g.chr11:102056830C>T ENST00000282441.5 + 4 1158 c.770C>T c.(769-771)tCt>tTt p.S257F YAP1_ENST00000526343.1_Intron|YAP1_ENST00000345877.2_Intron|YAP1_ENST00000531439.1_Missense_Mutation_p.S257F|YAP1_ENST00000524575.1_Missense_Mutation_p.S79F|YAP1_ENST00000537274.1_Missense_Mutation_p.S257F NM_001130145.2 NP_001123617.1 P46937 YAP1_HUMAN Yes-associated protein 1 257 WW 2. cell proliferation|cellular response to gamma radiation|contact inhibition|hippo signaling cascade|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent cytoplasm|nucleus protein binding|transcription coactivator activity|transcription corepressor activity|transcription regulatory region DNA binding central_nervous_system(1)|large_intestine(1)|lung(1)|ovary(1) 4 all_cancers(8;0.000575)|all_epithelial(12;0.00564) Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.00936) Lung(13;0.245) BRCA - Breast invasive adenocarcinoma(274;0.0189) AAGACCACCTCTTGGCTAGAC 0.373000 18 11 0 0 0.008871 0 0 F11 2160 broad.mit.edu 37 4 187197489 187197489 + Missense_Mutation SNP C C T TCGA-BF-A1PV-01A-11D-A19A-08 TCGA-BF-A1PV-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0db1b3b6-b61c-4718-9cbf-65550d399bc7 792d1c6e-02b2-442b-a36e-d5a4afa5a6aa g.chr4:187197489C>T ENST00000264692.4 + 7 877 c.544C>T c.(544-546)Ccc>Tcc p.P182S F11_ENST00000403665.2_Missense_Mutation_p.P234S P03951 FA11_HUMAN coagulation factor XI 234 Apple 2. blood coagulation, intrinsic pathway|plasminogen activation|positive regulation of fibrinolysis extracellular space|plasma membrane heparin binding|serine-type endopeptidase activity NS(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(15)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(1) 32 all_cancers(14;6.2e-52)|all_epithelial(14;1.62e-38)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|Colorectal(36;0.0161)|all_neural(102;0.202) OV - Ovarian serous cystadenocarcinoma(60;2.13e-11)|BRCA - Breast invasive adenocarcinoma(30;4.59e-06)|GBM - Glioblastoma multiforme(59;0.000149)|STAD - Stomach adenocarcinoma(60;0.000314)|LUSC - Lung squamous cell carcinoma(40;0.00112)|READ - Rectum adenocarcinoma(43;0.176) Coagulation Factor IX(DB00100) CACTCATCATCCCGGTTGCTT 0.413000 9 11 0 0 0.004482 0 0 DLG5 9231 broad.mit.edu 37 10 79569428 79569428 + Silent SNP G G A TCGA-BF-A1PV-01A-11D-A19A-08 TCGA-BF-A1PV-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0db1b3b6-b61c-4718-9cbf-65550d399bc7 792d1c6e-02b2-442b-a36e-d5a4afa5a6aa g.chr10:79569428G>A ENST00000372391.2 - 24 4529 c.4524C>T c.(4522-4524)tcC>tcT p.S1508S DLG5_ENST00000372388.2_Silent_p.S1168S|DLG5_ENST00000459739.1_5'UTR NM_004747.3 NP_004738.3 Q8TDM6 DLG5_HUMAN discs, large homolog 5 (Drosophila) 1508 PDZ 4. cell-cell adhesion|intracellular signal transduction|negative regulation of cell proliferation|regulation of apoptosis cell junction|cytoplasm beta-catenin binding|cytoskeletal protein binding|receptor signaling complex scaffold activity p.S1508S(1) breast(9)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(17)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 60 all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146) Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446) GCTCCAGCTGGGACTTTTTGA 0.547000 63 127 0 0 0.003610 0 0 AQP3 360 broad.mit.edu 37 9 33442346 33442346 + Silent SNP G G A TCGA-BF-A1PV-01A-11D-A19A-08 TCGA-BF-A1PV-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0db1b3b6-b61c-4718-9cbf-65550d399bc7 792d1c6e-02b2-442b-a36e-d5a4afa5a6aa g.chr9:33442346G>A ENST00000297991.4 - 5 743 c.663C>T c.(661-663)ggC>ggT p.G221G AQP3_ENST00000493581.1_5'UTR NM_004925.4 NP_004916.1 Q92482 AQP3_HUMAN aquaporin 3 (Gill blood group) 221 excretion|odontogenesis|positive regulation of immune system process|regulation of keratinocyte differentiation|response to calcium ion|response to retinoic acid|response to vitamin D basolateral plasma membrane|cell-cell junction|cytoplasm glycerol channel activity|water channel activity endometrium(2)|large_intestine(3)|lung(2)|ovary(1) 8 LUSC - Lung squamous cell carcinoma(29;0.00788) GBM - Glioblastoma multiforme(74;0.0899) AAAGGCGGGGGCCAAAGTCCC 0.662000 14 21 0 0 0.002450 0 0 USP54 159195 broad.mit.edu 37 10 75258464 75258464 + Missense_Mutation SNP C C T TCGA-BF-A1PV-01A-11D-A19A-08 TCGA-BF-A1PV-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0db1b3b6-b61c-4718-9cbf-65550d399bc7 792d1c6e-02b2-442b-a36e-d5a4afa5a6aa g.chr10:75258464C>T ENST00000339859.4 - 23 5078 c.4978G>A c.(4978-4980)Ggg>Agg p.G1660R RP11-137L10.6_ENST00000600887.1_RNA|RP11-137L10.6_ENST00000600206.1_RNA|RP11-137L10.6_ENST00000597958.1_RNA|RP11-137L10.6_ENST00000596320.1_RNA|RP11-137L10.6_ENST00000595935.1_RNA|RP11-137L10.6_ENST00000595069.1_RNA|RP11-137L10.6_ENST00000593790.1_RNA|RP11-137L10.6_ENST00000442133.3_RNA|RP11-137L10.6_ENST00000600607.1_RNA|USP54_ENST00000497106.1_5'UTR|USP54_ENST00000428547.1_Missense_Mutation_p.G1510R|USP54_ENST00000422491.2_Missense_Mutation_p.G795R|USP54_ENST00000408019.1_Missense_Mutation_p.G1660R|USP54_ENST00000394811.2_Missense_Mutation_p.G701R Q70EL1 UBP54_HUMAN ubiquitin specific peptidase 54 1660 ubiquitin-dependent protein catabolic process protein binding|ubiquitin thiolesterase activity breast(5)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(1) 30 Prostate(51;0.0112) AACAGAAACCCCTCTCCCACT 0.517000 23 41 0 0 0.002299 0 0 AHNAK 79026 broad.mit.edu 37 11 62301548 62301548 + Splice_Site SNP T T C TCGA-BF-A1PV-01A-11D-A19A-08 TCGA-BF-A1PV-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0db1b3b6-b61c-4718-9cbf-65550d399bc7 792d1c6e-02b2-442b-a36e-d5a4afa5a6aa g.chr11:62301548T>C ENST00000378024.4 - 5 617 c.e5-2 AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron NM_001620.1 NP_001611.1 Q09666 AHNK_HUMAN AHNAK nucleoprotein nervous system development nucleus protein binding NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6) 268 Melanoma(852;0.155) ATCCCCGCTCTGCAGAAAGAC 0.597000 19 11 0 0 0.001882 0 0 KRTAP5-6 440023 broad.mit.edu 37 11 1718677 1718677 + Missense_Mutation SNP G G A TCGA-BF-A1PV-01A-11D-A19A-08 TCGA-BF-A1PV-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0db1b3b6-b61c-4718-9cbf-65550d399bc7 792d1c6e-02b2-442b-a36e-d5a4afa5a6aa g.chr11:1718677G>A ENST00000382160.1 + 1 253 c.202G>A c.(202-204)Ggg>Agg p.G68R NM_001012416.1 NP_001012416.1 Q6L8G9 KRA56_HUMAN keratin associated protein 5-6 68 6 X 4 AA repeats of C-C-X-P. keratin filament endometrium(1)|large_intestine(2)|lung(6)|skin(1) 10 all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.00136)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082) GGGCTCCAAAGGGGGCTGTGG 0.642000 88 101 0 0 0.003610 0 0 TXLNA 200081 broad.mit.edu 37 1 32653642 32653642 + Missense_Mutation SNP G G A TCGA-BF-A1PV-01A-11D-A19A-08 TCGA-BF-A1PV-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0db1b3b6-b61c-4718-9cbf-65550d399bc7 792d1c6e-02b2-442b-a36e-d5a4afa5a6aa g.chr1:32653642G>A ENST00000373609.1 + 4 966 c.685G>A c.(685-687)Ggt>Agt p.G229S TXLNA_ENST00000373610.3_Missense_Mutation_p.G229S P40222 TXLNA_HUMAN taxilin alpha 229 cell proliferation|exocytosis cytoplasm|extracellular region cytokine activity|high molecular weight B cell growth factor receptor binding endometrium(1)|kidney(1)|large_intestine(4)|lung(2)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 13 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174) CCACCTGCGCGGTGAGCACAG 0.622000 6 10 0 0 0.001984 0 0 KRT75 9119 broad.mit.edu 37 12 52818522 52818522 + Missense_Mutation SNP G G A TCGA-BF-A1PV-01A-11D-A19A-08 TCGA-BF-A1PV-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0db1b3b6-b61c-4718-9cbf-65550d399bc7 792d1c6e-02b2-442b-a36e-d5a4afa5a6aa g.chr12:52818522G>A ENST00000252245.5 - 9 1655 c.1435C>T c.(1435-1437)Ctt>Ttt p.L479F RP11-1020M18.10_ENST00000548135.1_RNA NM_004693.2 NP_004684.2 O95678 K2C75_HUMAN keratin 75 479 Tail. keratin filament structural molecule activity central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(10)|prostate(1)|skin(1) 28 BRCA - Breast invasive adenocarcinoma(357;0.192) CCACTGGAAAGAGTAGAGGTG 0.612000 39 36 0 0 0.003610 0 0 HYDIN 54768 broad.mit.edu 37 16 70926411 70926411 + Silent SNP C C T TCGA-BF-A1PV-01A-11D-A19A-08 TCGA-BF-A1PV-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0db1b3b6-b61c-4718-9cbf-65550d399bc7 792d1c6e-02b2-442b-a36e-d5a4afa5a6aa g.chr16:70926411C>T ENST00000393567.2 - 56 9420 c.9270G>A c.(9268-9270)ggG>ggA p.G3090G NM_001270974.1 NP_001257903.1 Q4G0P3 HYDIN_HUMAN HYDIN, axonemal central pair apparatus protein 3090 breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1) 43 Ovarian(137;0.0654) GTGTTGAAATCCCTACAGAGT 0.433000 13 19 0 0 0.003163 0 0 LRRN2 10446 broad.mit.edu 37 1 204588452 204588452 + Missense_Mutation SNP C C T TCGA-BF-A1PV-01A-11D-A19A-08 TCGA-BF-A1PV-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0db1b3b6-b61c-4718-9cbf-65550d399bc7 792d1c6e-02b2-442b-a36e-d5a4afa5a6aa g.chr1:204588452C>T ENST00000367175.1 - 1 2881 c.669G>A c.(667-669)atG>atA p.M223I LRRN2_ENST00000367176.3_Missense_Mutation_p.M223I|LRRN2_ENST00000367177.3_Missense_Mutation_p.M223I O75325 LRRN2_HUMAN leucine rich repeat neuronal 2 223 cell adhesion integral to membrane receptor activity central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|liver(1)|lung(22)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 38 all_cancers(21;0.0519)|Breast(84;0.112)|Prostate(682;0.19) KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143) CCCGCAGGTTCATGCCTGCTA 0.607000 36 50 0 0 0.004289 0 0 SERPINA10 51156 broad.mit.edu 37 14 94756511 94756511 + Silent SNP G G A TCGA-BF-A1PV-01A-11D-A19A-08 TCGA-BF-A1PV-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0db1b3b6-b61c-4718-9cbf-65550d399bc7 792d1c6e-02b2-442b-a36e-d5a4afa5a6aa g.chr14:94756511G>A ENST00000554723.1 - 2 958 c.540C>T c.(538-540)ctC>ctT p.L180L SERPINA10_ENST00000554173.1_Silent_p.L140L|SERPINA10_ENST00000261994.4_Silent_p.L140L|SERPINA10_ENST00000393096.1_Silent_p.L140L Q9UK55 ZPI_HUMAN serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 10 140 regulation of proteolysis extracellular region serine-type endopeptidase inhibitor activity haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(4)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2) 33 all_cancers(154;0.105) Epithelial(152;0.135)|COAD - Colon adenocarcinoma(157;0.207)|all cancers(159;0.221) GGGAAGGCAGGAGCCCGGGCT 0.592000 16 25 0 0 0.003163 0 0 MAGEE2 139599 broad.mit.edu 37 X 75004042 75004042 + Missense_Mutation SNP G G T TCGA-BF-A1PV-01A-11D-A19A-08 TCGA-BF-A1PV-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0db1b3b6-b61c-4718-9cbf-65550d399bc7 792d1c6e-02b2-442b-a36e-d5a4afa5a6aa g.chrX:75004042G>T ENST00000373359.2 - 1 1037 c.845C>A c.(844-846)cCa>cAa p.P282Q NM_138703.4 NP_619648.1 Q8TD90 MAGE2_HUMAN melanoma antigen family E, 2 282 MAGE 1. autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 ATATTCTTCTGGCCAGCTCCA 0.478000 25 25 3.73988e-18 4.18939e-18 0.006320 1 0 OR5H2 79310 broad.mit.edu 37 3 98002205 98002205 + Silent SNP C C T TCGA-BF-A1PV-01A-11D-A19A-08 TCGA-BF-A1PV-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0db1b3b6-b61c-4718-9cbf-65550d399bc7 792d1c6e-02b2-442b-a36e-d5a4afa5a6aa g.chr3:98002205C>T ENST00000355273.2 + 1 474 c.474C>T c.(472-474)ttC>ttT p.F158F RP11-325B23.2_ENST00000508616.1_lincRNA NM_001005482.1 NP_001005482.1 Q8NGV7 OR5H2_HUMAN olfactory receptor, family 5, subfamily H, member 2 158 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(1)|large_intestine(5)|lung(13)|ovary(3)|upper_aerodigestive_tract(1) 24 TAGGTGGCTTCCTCCATGCCT 0.343000 13 16 0 0 0.001855 0 0 TAS2R31 259290 broad.mit.edu 37 12 11183232 11183232 + Missense_Mutation SNP G G C TCGA-BF-A1PV-01A-11D-A19A-08 TCGA-BF-A1PV-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0db1b3b6-b61c-4718-9cbf-65550d399bc7 792d1c6e-02b2-442b-a36e-d5a4afa5a6aa g.chr12:11183232G>C ENST00000390675.2 - 1 774 c.703C>G c.(703-705)Ctc>Gtc p.L235V PRR4_ENST00000536668.1_Intron|TAS2R14_ENST00000381852.4_Intron NM_176885.2 NP_795366.2 P59538 T2R31_HUMAN taste receptor, type 2, member 31 235 sensory perception of taste integral to membrane G-protein coupled receptor activity kidney(1)|lung(6) 7 CATAACAAGAGGAAAAAGATC 0.403000 7 119 0 0 0.003080 0 0 PCDHB1 29930 broad.mit.edu 37 5 140431495 140431495 + Missense_Mutation SNP C C T TCGA-BF-A1PV-01A-11D-A19A-08 TCGA-BF-A1PV-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0db1b3b6-b61c-4718-9cbf-65550d399bc7 792d1c6e-02b2-442b-a36e-d5a4afa5a6aa g.chr5:140431495C>T ENST00000306549.3 + 1 517 c.440C>T c.(439-441)cCt>cTt p.P147L NM_013340.2 NP_037472.2 Q9Y5F3 PCDB1_HUMAN 147 Cadherin 2. 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) GAGAGCACCCCTTTGGGTTCA 0.532000 12 20 0 0 0.003163 0 0 SETBP1 26040 broad.mit.edu 37 18 42618621 42618621 + Splice_Site SNP G G A TCGA-BF-A1PV-01A-11D-A19A-08 TCGA-BF-A1PV-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0db1b3b6-b61c-4718-9cbf-65550d399bc7 792d1c6e-02b2-442b-a36e-d5a4afa5a6aa g.chr18:42618621G>A ENST00000282030.5 + 5 4467 c.e5+1 NM_015559.2 NP_056374.2 Q9Y6X0 SETBP_HUMAN SET binding protein 1 nucleus DNA binding NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(20)|lung(47)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 104 Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201) TCGGATGCAGGTGAGCACTTT 0.493000 Schinzel-Giedion syndrome 8 11 0 0 0.004482 0 0 GLIS3 169792 broad.mit.edu 37 9 4118848 4118848 + Silent SNP C C T rs143229220 byFrequency TCGA-BF-A1PV-01A-11D-A19A-08 TCGA-BF-A1PV-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0db1b3b6-b61c-4718-9cbf-65550d399bc7 792d1c6e-02b2-442b-a36e-d5a4afa5a6aa g.chr9:4118848C>T ENST00000324333.10 - 3 358 c.165G>A c.(163-165)acG>acA p.T55T GLIS3_ENST00000381971.3_Silent_p.T210T NM_152629.3 NP_689842.3 Q8NEA6 GLIS3_HUMAN GLIS family zinc finger 3 55 Ser-rich. negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter DNA binding|zinc ion binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(12)|lung(4)|ovary(2)|prostate(1)|skin(1) 26 Acute lymphoblastic leukemia(2;0.00464)|Breast(48;0.148) Lung(2;0.00163)|GBM - Glioblastoma multiforme(50;0.00301)|LUSC - Lung squamous cell carcinoma(2;0.0148) GACTCAAGGTCGTGGACGCCA 0.512000 11 14 0 0 0.001368 0 0 FAM71B 153745 broad.mit.edu 37 5 156590570 156590570 + Missense_Mutation SNP C C T TCGA-BF-A1PV-01A-11D-A19A-08 TCGA-BF-A1PV-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0db1b3b6-b61c-4718-9cbf-65550d399bc7 792d1c6e-02b2-442b-a36e-d5a4afa5a6aa g.chr5:156590570C>T ENST00000302938.4 - 2 801 c.706G>A c.(706-708)Gga>Aga p.G236R NM_130899.2 NP_570969.2 Q8TC56 FA71B_HUMAN family with sequence similarity 71, member B 236 Ala-rich. nucleus NS(3)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(32)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 68 Renal(175;0.00212) Medulloblastoma(196;0.0523)|all_neural(177;0.21) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) TGTTGGATTCCCTCTCCCCCA 0.587000 59 88 0 0 0.003610 0 0 IGF2R 3482 broad.mit.edu 37 6 160445692 160445692 + Missense_Mutation SNP C C T TCGA-BF-A1PV-01A-11D-A19A-08 TCGA-BF-A1PV-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0db1b3b6-b61c-4718-9cbf-65550d399bc7 792d1c6e-02b2-442b-a36e-d5a4afa5a6aa g.chr6:160445692C>T ENST00000356956.1 + 5 750 c.602C>T c.(601-603)tCc>tTc p.S201F NM_000876.2 NP_000867.2 P11717 MPRI_HUMAN insulin-like growth factor 2 receptor 201 receptor-mediated endocytosis cell surface|endocytic vesicle|endosome|integral to plasma membrane|lysosomal membrane|trans-Golgi network transport vesicle glycoprotein binding|insulin-like growth factor receptor activity|phosphoprotein binding|transporter activity breast(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(27)|lung(31)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 95 Breast(66;0.000777)|Ovarian(120;0.0305) OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05) GTGGATGACTCCGATCCGGAC 0.478000 34 5 0 0 0.003271 0 0 KIAA1109 84162 broad.mit.edu 37 4 123274140 123274140 + Missense_Mutation SNP C C T TCGA-BF-A1PV-01A-11D-A19A-08 TCGA-BF-A1PV-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0db1b3b6-b61c-4718-9cbf-65550d399bc7 792d1c6e-02b2-442b-a36e-d5a4afa5a6aa g.chr4:123274140C>T ENST00000264501.4 + 81 14304 c.13931C>T c.(13930-13932)cCa>cTa p.P4644L KIAA1109_ENST00000388738.3_Missense_Mutation_p.P4644L Q2LD37 K1109_HUMAN KIAA1109 4644 regulation of cell growth|regulation of epithelial cell differentiation integral to membrane|nucleus breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3) 172 TTTCAGATTCCATTACCAGAA 0.393000 8 14 0 0 0.003080 0 0 TAF1L 138474 broad.mit.edu 37 9 32631964 32631964 + Missense_Mutation SNP C C T TCGA-BF-A1PV-01A-11D-A19A-08 TCGA-BF-A1PV-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0db1b3b6-b61c-4718-9cbf-65550d399bc7 792d1c6e-02b2-442b-a36e-d5a4afa5a6aa g.chr9:32631964C>T ENST00000242310.4 - 1 3703 c.3614G>A c.(3613-3615)cGa>cAa p.R1205Q NM_153809.2 NP_722516.1 Q8IZX4 TAF1L_HUMAN TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like 1205 male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent transcription factor TFIID complex DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1) 159 LUSC - Lung squamous cell carcinoma(29;0.0181) GBM - Glioblastoma multiforme(74;0.00301) AGCTGGTTTTCGGACTGTCTC 0.423000 17 34 0 0 0.001523 0 0 MCC 4163 broad.mit.edu 37 5 112406892 112406892 + Silent SNP G G A TCGA-BF-A1PV-01A-11D-A19A-08 TCGA-BF-A1PV-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0db1b3b6-b61c-4718-9cbf-65550d399bc7 792d1c6e-02b2-442b-a36e-d5a4afa5a6aa g.chr5:112406892G>A ENST00000302475.4 - 10 1817 c.1254C>T c.(1252-1254)acC>acT p.T418T MCC_ENST00000515367.2_Silent_p.T355T|MCC_ENST00000514701.3_5'UTR|MCC_ENST00000408903.3_Silent_p.T608T NM_002387.2 NP_002378.1 P23508 CRCM_HUMAN mutated in colorectal cancers 418 negative regulation of canonical Wnt receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation|Wnt receptor signaling pathway cytoplasm|nucleus|plasma membrane protein binding|receptor activity endometrium(4)|kidney(3)|large_intestine(15)|liver(2)|lung(8)|ovary(2)|pancreas(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 42 all_cancers(142;5.89e-08)|all_epithelial(76;3.57e-11)|all_lung(232;0.000605)|Lung NSC(810;0.000697)|Colorectal(10;0.00146)|Prostate(80;0.00174)|Ovarian(225;0.0175)|Breast(839;0.198) OV - Ovarian serous cystadenocarcinoma(64;2.04e-54)|Epithelial(69;9.69e-49)|all cancers(49;6.25e-44)|COAD - Colon adenocarcinoma(37;0.0432)|Colorectal(14;0.0766) CCAAGGTTATGGTCAGGAGGT 0.453000 38 62 0 0 0.006230 0 0 PRDM13 59336 broad.mit.edu 37 6 100057179 100057179 + Missense_Mutation SNP G G T TCGA-BF-A1PV-01A-11D-A19A-08 TCGA-BF-A1PV-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0db1b3b6-b61c-4718-9cbf-65550d399bc7 792d1c6e-02b2-442b-a36e-d5a4afa5a6aa g.chr6:100057179G>T ENST00000369214.1 + 3 684 c.423G>T c.(421-423)gaG>gaT p.E141D PRDM13_ENST00000369215.4_Missense_Mutation_p.E131D NM_021620.3 NP_067633.2 Q9H4Q3 PRD13_HUMAN PR domain containing 13 131 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(9)|prostate(1) 17 all_cancers(76;1.64e-05)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0128)|Colorectal(196;0.069)|Lung NSC(302;0.186) BRCA - Breast invasive adenocarcinoma(108;0.0598) CTCACGACGAGAAAGGTACCC 0.542000 16 3 2.48551e-13 2.77757e-13 0.004990 1 0 ZNF716 441234 broad.mit.edu 37 7 57522288 57522288 + Silent SNP C C T TCGA-BF-A1PV-01A-11D-A19A-08 TCGA-BF-A1PV-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0db1b3b6-b61c-4718-9cbf-65550d399bc7 792d1c6e-02b2-442b-a36e-d5a4afa5a6aa g.chr7:57522288C>T ENST00000420713.1 + 2 274 c.162C>T c.(160-162)tcC>tcT p.S54S NM_001159279.1 NP_001152751.1 zinc finger protein 716 breast(1)|kidney(1)|lung(20)|ovary(2) 24 ACCTGGTCTCCCTGGGTGAGG 0.368000 11 6 0 0 0.008291 0 0 IFITM3 10410 broad.mit.edu 37 11 320606 320606 + Missense_Mutation SNP G G T rs149004156 by1000genomes TCGA-BF-A1PV-01A-11D-A19A-08 TCGA-BF-A1PV-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0db1b3b6-b61c-4718-9cbf-65550d399bc7 792d1c6e-02b2-442b-a36e-d5a4afa5a6aa g.chr11:320606G>T ENST00000399808.4 - 1 444 c.208C>A c.(208-210)Ccc>Acc p.P70T IFITM3_ENST00000526811.1_Missense_Mutation_p.P49T|IFITM3_ENST00000602735.1_Missense_Mutation_p.P49T|RP11-326C3.11_ENST00000602756.1_RNA|RP11-326C3.11_ENST00000602429.1_RNA NM_021034.2 NP_066362.2 Q01628 IFM3_HUMAN interferon induced transmembrane protein 3 70 Interaction with SPP1. response to virus|type I interferon-mediated signaling pathway integral to membrane|plasma membrane p.P70T(3) central_nervous_system(7)|endometrium(7)|kidney(2)|large_intestine(1)|lung(1) 18 all_cancers(49;2e-09)|all_epithelial(84;3.36e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713) all cancers(45;8.85e-28)|Epithelial(43;5.52e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0327)|LUSC - Lung squamous cell carcinoma(625;0.122) AGGCAGCAGGGGTTCATGAAG 0.632000 6 156 0.00307968 0.00340886 0.003080 1 0 HRNR 388697 broad.mit.edu 37 1 152188374 152188374 + Missense_Mutation SNP C C T TCGA-BF-A1PV-01A-11D-A19A-08 TCGA-BF-A1PV-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0db1b3b6-b61c-4718-9cbf-65550d399bc7 792d1c6e-02b2-442b-a36e-d5a4afa5a6aa g.chr1:152188374C>T ENST00000368801.2 - 3 5806 c.5731G>A c.(5731-5733)Gaa>Aaa p.E1911K FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA NM_001009931.1 NP_001009931.1 Q86YZ3 HORN_HUMAN hornerin 1911 keratinization calcium ion binding|protein binding autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6) 192 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) CCGTGTTGTTCACCCCTAGAT 0.557000 145 2688 0 0 0.006230 0 0 GCNT3 9245 broad.mit.edu 37 15 59910454 59910454 + Missense_Mutation SNP G G A TCGA-BF-A1PV-01A-11D-A19A-08 TCGA-BF-A1PV-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0db1b3b6-b61c-4718-9cbf-65550d399bc7 792d1c6e-02b2-442b-a36e-d5a4afa5a6aa g.chr15:59910454G>A ENST00000396065.1 + 3 465 c.17G>A c.(16-18)aGa>aAa p.R6K GCNT3_ENST00000560585.1_Missense_Mutation_p.R6K NM_004751.2 NP_004742.1 O95395 GCNT3_HUMAN glucosaminyl (N-acetyl) transferase 3, mucin type 6 protein O-linked glycosylation Golgi membrane|integral to membrane|membrane fraction beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity|N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 CAATGGAAGAGACTCTGCCAG 0.522000 21 30 0 0 0.002780 0 0 BPIFC 254240 broad.mit.edu 37 22 32853355 32853355 + Missense_Mutation SNP G G A TCGA-BF-A1PV-01A-11D-A19A-08 TCGA-BF-A1PV-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0db1b3b6-b61c-4718-9cbf-65550d399bc7 792d1c6e-02b2-442b-a36e-d5a4afa5a6aa g.chr22:32853355G>A ENST00000397452.1 - 2 129 c.19C>T c.(19-21)Cca>Tca p.P7S BPIFC_ENST00000432451.2_5'UTR|BPIFC_ENST00000534972.1_5'UTR|BPIFC_ENST00000397450.1_Missense_Mutation_p.P7S|BPIFC_ENST00000300399.3_Missense_Mutation_p.P7S Q8NFQ6 BPIL2_HUMAN BPI fold containing family C 7 extracellular region lipopolysaccharide binding|phospholipid binding CAGAGGACTGGGATTGTCTTT 0.398000 OREG0003513 type=REGULATORY REGION|Gene=BPIL2|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay 16 29 0 0 0.004007 0 0 FLNA 2316 broad.mit.edu 37 X 153595841 153595841 + Silent SNP G G A TCGA-BF-A1PV-01A-11D-A19A-08 TCGA-BF-A1PV-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0db1b3b6-b61c-4718-9cbf-65550d399bc7 792d1c6e-02b2-442b-a36e-d5a4afa5a6aa g.chrX:153595841G>A ENST00000422373.1 - 5 1040 c.792C>T c.(790-792)ttC>ttT p.F264F FLNA_ENST00000360319.4_Silent_p.F264F|FLNA_ENST00000344736.4_Silent_p.F264F|FLNA_ENST00000369850.3_Silent_p.F264F NM_001456.3 NP_001447.2 P21333 FLNA_HUMAN filamin A, alpha 264 Actin-binding.|CH 2. 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) TGGCCTTGGGGAACTGGGACA 0.627000 45 66 0 0 0.003610 0 0 NME9 347736 broad.mit.edu 37 3 138022439 138022439 + Missense_Mutation SNP C C T TCGA-BF-A1PV-01A-11D-A19A-08 TCGA-BF-A1PV-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0db1b3b6-b61c-4718-9cbf-65550d399bc7 792d1c6e-02b2-442b-a36e-d5a4afa5a6aa g.chr3:138022439C>T ENST00000383180.2 - 11 892 c.655G>A c.(655-657)Gga>Aga p.G219R NME9_ENST00000333911.3_Missense_Mutation_p.G280R|NME9_ENST00000484930.1_Missense_Mutation_p.G217R|NME9_ENST00000536478.1_Missense_Mutation_p.G219R|NME9_ENST00000341790.5_Missense_Mutation_p.G217R|NME9_ENST00000317876.4_Missense_Mutation_p.G219R NM_178130.2 NP_835231.1 Q86XW9 TXND6_HUMAN NME/NM23 family member 9 280 NDK. cell redox homeostasis|CTP biosynthetic process|GTP biosynthetic process|UTP biosynthetic process cytoplasm|cytoskeleton ATP binding|nucleoside diphosphate kinase activity TCCCGGCTTCCATGGACGGCA 0.448000 67 115 0 0 0.003610 0 0 OR5M3 219482 broad.mit.edu 37 11 56237408 56237408 + Missense_Mutation SNP C C T TCGA-BF-A1PV-01A-11D-A19A-08 TCGA-BF-A1PV-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0db1b3b6-b61c-4718-9cbf-65550d399bc7 792d1c6e-02b2-442b-a36e-d5a4afa5a6aa g.chr11:56237408C>T ENST00000312240.2 - 1 606 c.566G>A c.(565-567)gGg>gAg p.G189E NM_001004742.2 NP_001004742.2 Q8NGP4 OR5M3_HUMAN olfactory receptor, family 5, subfamily M, member 3 189 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|central_nervous_system(2)|endometrium(2)|large_intestine(7)|lung(15)|ovary(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 37 Esophageal squamous(21;0.00448) TACAAAGGTCCCAGCACAGGC 0.398000 7 18 0 0 0.003080 0 0 CACNA1I 8911 broad.mit.edu 37 22 39966904 39966904 + Silent SNP C C T TCGA-BF-A1PV-01A-11D-A19A-08 TCGA-BF-A1PV-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0db1b3b6-b61c-4718-9cbf-65550d399bc7 792d1c6e-02b2-442b-a36e-d5a4afa5a6aa g.chr22:39966904C>T ENST00000336649.4 + 1 147 c.147C>T c.(145-147)gtC>gtT p.V49V CACNA1I_ENST00000404898.1_Silent_p.V49V|CACNA1I_ENST00000407673.1_Silent_p.V49V|CACNA1I_ENST00000400164.3_Silent_p.V49V|CACNA1I_ENST00000402142.3_Silent_p.V49V|CACNA1I_ENST00000401624.1_Silent_p.V49V Q9P0X4 CAC1I_HUMAN calcium channel, voltage-dependent, T type, alpha 1I subunit 49 axon guidance|signal transduction voltage-gated calcium channel complex low voltage-gated calcium channel activity|protein binding breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(2)|lung(27)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 60 Melanoma(58;0.0749) Flunarizine(DB04841)|Paramethadione(DB00617)|Verapamil(DB00661) ATCCTCATGTCCCACACCCAG 0.657000 41 54 0 0 0.002222 0 0 FAM86B3P 286042 broad.mit.edu 37 8 8095880 8095880 + RNA SNP C C T TCGA-BF-A1PV-01A-11D-A19A-08 TCGA-BF-A1PV-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0db1b3b6-b61c-4718-9cbf-65550d399bc7 792d1c6e-02b2-442b-a36e-d5a4afa5a6aa g.chr8:8095880C>T ENST00000523017.1 - 0 608 GCCACATGGCCCCAGGCCCAA 0.617000 6 26 0 0 0.003080 0 0 MUC16 94025 broad.mit.edu 37 19 9047571 9047571 + Missense_Mutation SNP G G A TCGA-BF-A1PV-01A-11D-A19A-08 TCGA-BF-A1PV-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0db1b3b6-b61c-4718-9cbf-65550d399bc7 792d1c6e-02b2-442b-a36e-d5a4afa5a6aa g.chr19:9047571G>A ENST00000397910.4 - 5 34263 c.34060C>T c.(34060-34062)Cct>Tct p.P11354S NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 11356 Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 GTGACTGCAGGATGAGTAACC 0.512000 54 59 0 0 0.003610 0 0 FCN1 2219 broad.mit.edu 37 9 137801662 137801662 + Missense_Mutation SNP C C T TCGA-BF-A1PV-01A-11D-A19A-08 TCGA-BF-A1PV-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0db1b3b6-b61c-4718-9cbf-65550d399bc7 792d1c6e-02b2-442b-a36e-d5a4afa5a6aa g.chr9:137801662C>T ENST00000371806.3 - 9 1054 c.963G>A c.(961-963)atG>atA p.M321I NM_002003.3 NP_001994.2 O00602 FCN1_HUMAN ficolin (collagen/fibrinogen domain containing) 1 321 Fibrinogen C-terminal. opsonization|signal transduction collagen|extracellular space antigen binding|calcium ion binding|receptor binding|sugar binding endometrium(3)|kidney(3)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 37 Myeloproliferative disorder(178;0.0333) OV - Ovarian serous cystadenocarcinoma(145;3.46e-08)|Epithelial(140;6.01e-08)|all cancers(34;3.69e-07) GCCGCACCTTCATCTCTGACA 0.577000 24 51 0 0 0.004656 0 0 GSX2 170825 broad.mit.edu 37 4 54966573 54966573 + Missense_Mutation SNP C C T TCGA-BF-A1PV-01A-11D-A19A-08 TCGA-BF-A1PV-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0db1b3b6-b61c-4718-9cbf-65550d399bc7 792d1c6e-02b2-442b-a36e-d5a4afa5a6aa g.chr4:54966573C>T ENST00000326902.2 + 1 376 c.62C>T c.(61-63)tCg>tTg p.S21L FIP1L1_ENST00000507166.1_Intron|GSX2_ENST00000503800.1_Missense_Mutation_p.S21L NM_133267.2 NP_573574.1 Q9BZM3 GSX2_HUMAN GS homeobox 2 21 nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity endometrium(2)|large_intestine(2)|lung(2) 6 all_cancers(7;0.00671)|Lung NSC(11;0.0154)|all_neural(26;0.0209)|Glioma(25;0.08)|all_epithelial(27;0.147) LUSC - Lung squamous cell carcinoma(32;0.00216) CCTGCGCCCTCGCTGCCTGAA 0.672000 9 22 0 0 0.000978 0 0 CACNA1A 773 broad.mit.edu 37 19 13427954 13427954 + Silent SNP G G A TCGA-BF-A1PV-01A-11D-A19A-08 TCGA-BF-A1PV-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0db1b3b6-b61c-4718-9cbf-65550d399bc7 792d1c6e-02b2-442b-a36e-d5a4afa5a6aa g.chr19:13427954G>A ENST00000360228.5 - 11 1526 c.1527C>T c.(1525-1527)aaC>aaT p.N509N CACNA1A_ENST00000573710.2_Silent_p.N510N 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 510 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) ACTCGGGCTGGTTGTAGTGAA 0.527000 5 7 0 0 0.001168 0 0 MSN 4478 broad.mit.edu 37 X 64955230 64955230 + Silent SNP C C T TCGA-BF-A1PV-01A-11D-A19A-08 TCGA-BF-A1PV-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0db1b3b6-b61c-4718-9cbf-65550d399bc7 792d1c6e-02b2-442b-a36e-d5a4afa5a6aa g.chrX:64955230C>T ENST00000360270.5 + 8 1069 c.897C>T c.(895-897)acC>acT p.T299T NM_002444.2 NP_002435.1 P26038 MOES_HUMAN moesin 299 leukocyte cell-cell adhesion|leukocyte migration|membrane to membrane docking apical plasma membrane|cytoskeleton|extrinsic to membrane|microvillus membrane|nucleolus cell adhesion molecule binding|receptor binding|structural constituent of cytoskeleton MSN/ALK(6) breast(4)|central_nervous_system(3)|endometrium(7)|kidney(5)|large_intestine(6)|lung(11)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1) 43 AGCCTGATACCATTGAGGTGC 0.587000 T ALK ALCL 3 9 0 0 0.004672 0 0 CEACAM20 125931 broad.mit.edu 37 19 45024764 45024764 + RNA SNP G G A TCGA-BF-A1PV-01A-11D-A19A-08 TCGA-BF-A1PV-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0db1b3b6-b61c-4718-9cbf-65550d399bc7 792d1c6e-02b2-442b-a36e-d5a4afa5a6aa g.chr19:45024764G>A ENST00000454753.1 - 0 1052 Q6UY09 CEA20_HUMAN carcinoembryonic antigen-related cell adhesion molecule 20 integral to membrane p.V258V(1) central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|prostate(1) 15 Prostate(69;0.0352) TTGAAGGCACGACTTGAGGCA 0.522000 127 191 0 0 0.003610 0 0 DUSP22 56940 broad.mit.edu 37 6 348139 348139 + Silent SNP C C T TCGA-BF-A1PV-01A-11D-A19A-08 TCGA-BF-A1PV-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0db1b3b6-b61c-4718-9cbf-65550d399bc7 792d1c6e-02b2-442b-a36e-d5a4afa5a6aa g.chr6:348139C>T ENST00000419235.2 + 6 378 c.300C>T c.(298-300)atC>atT p.I100I DUSP22_ENST00000604971.1_5'UTR|DUSP22_ENST00000344450.5_Silent_p.I100I|DUSP22_ENST00000605863.1_5'UTR|DUSP22_ENST00000605035.1_5'UTR|DUSP22_ENST00000605315.1_5'UTR|DUSP22_ENST00000603453.1_5'UTR Q9NRW4 DUS22_HUMAN dual specificity phosphatase 22 100 Tyrosine-protein phosphatase. apoptosis|cell proliferation|inactivation of MAPK activity|multicellular organismal development|positive regulation of JNK cascade|regulation of cell proliferation|transforming growth factor beta receptor signaling pathway cytoplasm|nucleus protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity p.I100M(1) central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|skin(2) 26 all_hematologic(77;0.228) Breast(5;0.0249)|all_hematologic(90;0.0489) OV - Ovarian serous cystadenocarcinoma(45;0.0277)|BRCA - Breast invasive adenocarcinoma(62;0.0669) CACTGGTGATCGCATACATCA 0.607000 60 326 0 0 0.003610 0 0 ADD1 118 broad.mit.edu 37 4 2900234 2900234 + Silent SNP C C T TCGA-BF-A1PV-01A-11D-A19A-08 TCGA-BF-A1PV-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0db1b3b6-b61c-4718-9cbf-65550d399bc7 792d1c6e-02b2-442b-a36e-d5a4afa5a6aa g.chr4:2900234C>T ENST00000355842.3 + 9 1823 c.960C>T c.(958-960)aaC>aaT p.N320N ADD1_ENST00000398123.2_Silent_p.N320N|ADD1_ENST00000264758.7_Silent_p.N320N|ADD1_ENST00000398129.1_Silent_p.N320N|ADD1_ENST00000398125.1_Silent_p.N320N|ADD1_ENST00000513328.2_Silent_p.N320N|ADD1_ENST00000446856.1_Silent_p.N320N|ADD1_ENST00000503455.2_Silent_p.N320N P35611 ADDA_HUMAN adducin 1 (alpha) 320 actin filament bundle assembly|barbed-end actin filament capping|cellular component disassembly involved in apoptosis|positive regulation of protein binding cytosol|F-actin capping protein complex|nucleus|plasma membrane actin filament binding|calmodulin binding|metal ion binding|protein heterodimerization activity|protein homodimerization activity|spectrin binding|transcription factor binding breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(2) 22 UCEC - Uterine corpus endometrioid carcinoma (64;0.168) ACATCCATAACCTTGTGGTTG 0.473000 61 59 0 0 0.003610 0 0 STAB2 55576 broad.mit.edu 37 12 104063322 104063322 + Missense_Mutation SNP C C T TCGA-BF-A1PV-01A-11D-A19A-08 TCGA-BF-A1PV-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0db1b3b6-b61c-4718-9cbf-65550d399bc7 792d1c6e-02b2-442b-a36e-d5a4afa5a6aa g.chr12:104063322C>T ENST00000388887.2 + 21 2380 c.2176C>T c.(2176-2178)Cca>Tca p.P726S NM_017564.9 NP_060034.9 Q8WWQ8 STAB2_HUMAN stabilin 2 726 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 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 TTTTCAGATTCCAAAGTGCTG 0.438000 44 52 0 0 0.002522 0 0 GPRIN2 9721 broad.mit.edu 37 10 46999963 46999963 + Missense_Mutation SNP T T G TCGA-BF-A1PV-01A-11D-A19A-08 TCGA-BF-A1PV-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0db1b3b6-b61c-4718-9cbf-65550d399bc7 792d1c6e-02b2-442b-a36e-d5a4afa5a6aa g.chr10:46999963T>G ENST00000374314.4 + 1 2038 c.1083T>G c.(1081-1083)caT>caG p.H361Q GPRIN2_ENST00000374317.1_Missense_Mutation_p.H361Q O60269 GRIN2_HUMAN G protein regulated inducer of neurite outgrowth 2 361 breast(2)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(1)|lung(6)|prostate(1) 18 CAGCCCTGCATGTGTTCCCAG 0.672000 25 102 0 0 0.003954 0 0 COL11A1 1301 broad.mit.edu 37 1 103428225 103428225 + Missense_Mutation SNP C C T TCGA-BF-A1PV-01A-11D-A19A-08 TCGA-BF-A1PV-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0db1b3b6-b61c-4718-9cbf-65550d399bc7 792d1c6e-02b2-442b-a36e-d5a4afa5a6aa g.chr1:103428225C>T ENST00000358392.2 - 39 3361 c.3044G>A c.(3043-3045)gGa>gAa p.G1015E COL11A1_ENST00000512756.1_Missense_Mutation_p.G887E|COL11A1_ENST00000353414.4_Missense_Mutation_p.G964E|COL11A1_ENST00000370096.3_Missense_Mutation_p.G1003E NM_080629.2 NP_542196.2 P12107 COBA1_HUMAN collagen, type XI, alpha 1 1003 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) ACCTTCTTTTCCTGCAGCACC 0.473000 13 13 0 0 0.004007 0 0 SERPINB2 5055 broad.mit.edu 37 18 61562584 61562584 + Silent SNP C C T TCGA-BF-A1PV-01A-11D-A19A-08 TCGA-BF-A1PV-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0db1b3b6-b61c-4718-9cbf-65550d399bc7 792d1c6e-02b2-442b-a36e-d5a4afa5a6aa g.chr18:61562584C>T ENST00000457692.1 + 4 588 c.255C>T c.(253-255)atC>atT p.I85I SERPINB2_ENST00000482254.1_3'UTR|SERPINB2_ENST00000299502.4_Silent_p.I85I NM_001143818.1 NP_001137290.1 P05120 PAI2_HUMAN serpin peptidase inhibitor, clade B (ovalbumin), member 2 85 anti-apoptosis|blood coagulation|fibrinolysis|regulation of proteolysis extracellular space|Golgi apparatus|plasma membrane serine-type endopeptidase inhibitor activity NS(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|liver(1)|lung(12)|prostate(2)|skin(2)|stomach(1) 32 Esophageal squamous(42;0.131) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)|Urokinase(DB00013) TGCAGCAGATCCAGAAGGGTA 0.433000 53 24 0 0 0.003610 0 0 NIPA1 123606 broad.mit.edu 37 15 23049282 23049282 + Silent SNP G G A TCGA-BF-A1PV-01A-11D-A19A-08 TCGA-BF-A1PV-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0db1b3b6-b61c-4718-9cbf-65550d399bc7 792d1c6e-02b2-442b-a36e-d5a4afa5a6aa g.chr15:23049282G>A ENST00000437912.2 - 5 1609 c.312C>T c.(310-312)atC>atT p.I104I NIPA1_ENST00000561183.1_Silent_p.I104I|NIPA1_ENST00000337435.4_Silent_p.I179I|NIPA1_ENST00000538684.1_Silent_p.I9I Q7RTP0 NIPA1_HUMAN non imprinted in Prader-Willi/Angelman syndrome 1 179 cell death early endosome|integral to membrane|plasma membrane endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|skin(1) 15 all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488) all cancers(64;4.18e-06)|Epithelial(43;3.97e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00165) GGGCCGGCGCGATCCAGAAGA 0.607000 6 9 0 0 0.001168 0 0 GALNT15 117248 broad.mit.edu 37 3 16237400 16237400 + Missense_Mutation SNP G G A TCGA-BF-A1PV-01A-11D-A19A-08 TCGA-BF-A1PV-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0db1b3b6-b61c-4718-9cbf-65550d399bc7 792d1c6e-02b2-442b-a36e-d5a4afa5a6aa g.chr3:16237400G>A ENST00000339732.5 + 2 1176 c.673G>A c.(673-675)Gag>Aag p.E225K GALNT15_ENST00000437509.1_Missense_Mutation_p.E225K NM_054110.4 NP_473451.3 UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 15 CTTCCTGAAGGAGATCATCCT 0.607000 15 20 0 0 0.004990 0 0 CACNA1I 8911 broad.mit.edu 37 22 40054286 40054286 + Missense_Mutation SNP G G A TCGA-BF-A1PV-01A-11D-A19A-08 TCGA-BF-A1PV-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0db1b3b6-b61c-4718-9cbf-65550d399bc7 792d1c6e-02b2-442b-a36e-d5a4afa5a6aa g.chr22:40054286G>A ENST00000336649.4 + 14 2140 c.2140G>A c.(2140-2142)Gac>Aac p.D714N CACNA1I_ENST00000404898.1_Missense_Mutation_p.D673N|CACNA1I_ENST00000407673.1_Missense_Mutation_p.D673N|CACNA1I_ENST00000400164.3_Missense_Mutation_p.D673N|CACNA1I_ENST00000402142.3_Missense_Mutation_p.D708N|CACNA1I_ENST00000401624.1_Missense_Mutation_p.D708N Q9P0X4 CAC1I_HUMAN calcium channel, voltage-dependent, T type, alpha 1I subunit 708 axon guidance|signal transduction voltage-gated calcium channel complex low voltage-gated calcium channel activity|protein binding breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(2)|lung(27)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 60 Melanoma(58;0.0749) Flunarizine(DB04841)|Paramethadione(DB00617)|Verapamil(DB00661) CAACATCTTCGACAGCATCAT 0.542000 20 26 0 0 0.007413 0 0 LGALS3BP 3959 broad.mit.edu 37 17 76968665 76968665 + Missense_Mutation SNP G G A TCGA-BF-A1PV-01A-11D-A19A-08 TCGA-BF-A1PV-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0db1b3b6-b61c-4718-9cbf-65550d399bc7 792d1c6e-02b2-442b-a36e-d5a4afa5a6aa g.chr17:76968665G>A ENST00000262776.3 - 6 1059 c.751C>T c.(751-753)Ctc>Ttc p.L251F LGALS3BP_ENST00000591778.1_Silent_p.S166S NM_005567.3 NP_005558.1 Q08380 LG3BP_HUMAN lectin, galactoside-binding, soluble, 3 binding protein 251 cell adhesion|cellular defense response extracellular space|membrane|proteinaceous extracellular matrix protein binding|scavenger receptor activity NS(1)|breast(1)|central_nervous_system(5)|endometrium(3)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 17 BRCA - Breast invasive adenocarcinoma(99;0.0677)|OV - Ovarian serous cystadenocarcinoma(97;0.139) TCCTGGGGGAGGAGGATGGCA 0.622000 65 9 0 0 0.003610 0 0 FILIP1L 11259 broad.mit.edu 37 3 99568213 99568213 + Silent SNP C C T TCGA-BF-A1PV-01A-11D-A19A-08 TCGA-BF-A1PV-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0db1b3b6-b61c-4718-9cbf-65550d399bc7 792d1c6e-02b2-442b-a36e-d5a4afa5a6aa g.chr3:99568213C>T ENST00000331335.5 - 5 2777 c.2307G>A c.(2305-2307)aaG>aaA p.K769K FILIP1L_ENST00000476723.1_Intron|CMSS1_ENST00000496116.1_Intron|FILIP1L_ENST00000471562.1_Silent_p.K529K|CMSS1_ENST00000421999.2_Intron|FILIP1L_ENST00000487087.1_Silent_p.K345K|FILIP1L_ENST00000383694.2_Silent_p.K529K|FILIP1L_ENST00000354552.3_Silent_p.K769K NM_001042459.1 NP_001035924.1 Q4L180 FIL1L_HUMAN filamin A interacting protein 1-like 769 cytoplasm|membrane|myosin complex|nucleus breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 35 TCTCTAACTCCTTAGTGAGGT 0.408000 18 20 0 0 0.008871 0 0 FRMPD4 9758 broad.mit.edu 37 X 12704292 12704292 + Missense_Mutation SNP C C T TCGA-BF-A1PV-01A-11D-A19A-08 TCGA-BF-A1PV-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0db1b3b6-b61c-4718-9cbf-65550d399bc7 792d1c6e-02b2-442b-a36e-d5a4afa5a6aa g.chrX:12704292C>T ENST00000380682.1 + 7 1156 c.650C>T c.(649-651)tCa>tTa p.S217L NM_014728.3 NP_055543.2 Q14CM0 FRPD4_HUMAN FERM and PDZ domain containing 4 217 FERM. positive regulation of synapse structural plasticity cytoskeleton|dendritic spine phosphatidylinositol-4,5-bisphosphate binding|protein binding breast(1)|central_nervous_system(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3) 22 CAGACCAAATCATTTCGTTTT 0.413000 12 16 0 0 0.002450 0 0 PLCG2 5336 broad.mit.edu 37 16 81969973 81969973 + Silent SNP C C T TCGA-BF-A1PV-01A-11D-A19A-08 TCGA-BF-A1PV-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0db1b3b6-b61c-4718-9cbf-65550d399bc7 792d1c6e-02b2-442b-a36e-d5a4afa5a6aa g.chr16:81969973C>T ENST00000359376.3 + 27 3256 c.3042C>T c.(3040-3042)ttC>ttT p.F1014F NM_002661.3 NP_002652.2 P16885 PLCG2_HUMAN phospholipase C, gamma 2 (phosphatidylinositol-specific) 1014 PI-PLC Y-box. intracellular signal transduction|phospholipid catabolic process|platelet activation plasma membrane phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity NS(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(18)|lung(21)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1) 58 CACTCAATTTCCAGACGGCAG 0.582000 7 12 0 0 0.001984 0 0 LMCD1 29995 broad.mit.edu 37 3 8579092 8579092 + Missense_Mutation SNP A A G TCGA-BF-A1PV-01A-11D-A19A-08 TCGA-BF-A1PV-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0db1b3b6-b61c-4718-9cbf-65550d399bc7 792d1c6e-02b2-442b-a36e-d5a4afa5a6aa g.chr3:8579092A>G ENST00000157600.3 + 3 585 c.353A>G c.(352-354)tAc>tGc p.Y118C LMCD1_ENST00000454244.1_Missense_Mutation_p.Y45C|LMCD1-AS1_ENST00000439407.1_RNA|LMCD1_ENST00000535732.1_Missense_Mutation_p.Y118C|LMCD1_ENST00000397386.3_Intron NM_014583.2 NP_055398.1 Q9NZU5 LMCD1_HUMAN LIM and cysteine-rich domains 1 118 PET. positive regulation of calcineurin-NFAT signaling pathway|regulation of cardiac muscle hypertrophy|transcription, DNA-dependent cytoplasm|extracellular space|nucleus transcription corepressor activity|zinc ion binding breast(2)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1) 16 OV - Ovarian serous cystadenocarcinoma(96;0.124) ACCATCACCTACGAGTGGGCT 0.502000 31 51 0 0 0.002836 0 0 ADAM21 8747 broad.mit.edu 37 14 70924572 70924572 + Missense_Mutation SNP C C T TCGA-BF-A1PV-01A-11D-A19A-08 TCGA-BF-A1PV-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0db1b3b6-b61c-4718-9cbf-65550d399bc7 792d1c6e-02b2-442b-a36e-d5a4afa5a6aa g.chr14:70924572C>T ENST00000603540.1 + 2 614 c.356C>T c.(355-357)cCt>cTt p.P119L ADAM21_ENST00000267499.3_Missense_Mutation_p.P119L|RP11-486O13.4_ENST00000556646.1_lincRNA NM_003813.3 NP_003804.2 Q9UKJ8 ADA21_HUMAN ADAM metallopeptidase domain 21 119 proteolysis|single fertilization integral to membrane metalloendopeptidase activity|zinc ion binding central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|prostate(1)|skin(2)|stomach(1) 31 all cancers(60;0.00326)|BRCA - Breast invasive adenocarcinoma(234;0.00646)|OV - Ovarian serous cystadenocarcinoma(108;0.0401) GAGGCAGCCCCTGAGTCTCTG 0.498000 8 61 0 0 0.008291 0 0 GRID1 2894 broad.mit.edu 37 10 87484330 87484330 + Missense_Mutation SNP T T C TCGA-BF-A1PV-01A-11D-A19A-08 TCGA-BF-A1PV-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0db1b3b6-b61c-4718-9cbf-65550d399bc7 792d1c6e-02b2-442b-a36e-d5a4afa5a6aa g.chr10:87484330T>C ENST00000327946.7 - 11 1722 c.1637A>G c.(1636-1638)aAg>aGg p.K546R GRID1_ENST00000536331.1_Missense_Mutation_p.K117R NM_017551.2 NP_060021.1 Q9ULK0 GRID1_HUMAN glutamate receptor, ionotropic, delta 1 546 cell junction|integral to membrane|outer membrane-bounded periplasmic space|postsynaptic membrane extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(46)|ovary(5)|prostate(4)|skin(5)|stomach(4)|upper_aerodigestive_tract(5) 106 L-Glutamic Acid(DB00142) CTCGGGCTTCTTAATTAGAAT 0.527000 Multiple Myeloma(13;0.14) 19 15 0 0 0.008871 0 0 ABCA12 26154 broad.mit.edu 37 2 215852497 215852497 + Missense_Mutation SNP G G A TCGA-BF-A1PV-01A-11D-A19A-08 TCGA-BF-A1PV-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0db1b3b6-b61c-4718-9cbf-65550d399bc7 792d1c6e-02b2-442b-a36e-d5a4afa5a6aa g.chr2:215852497G>A ENST00000272895.7 - 27 4069 c.3850C>T c.(3850-3852)Ccc>Tcc p.P1284S ABCA12_ENST00000389661.4_Missense_Mutation_p.P966S NM_173076.2 NP_775099.2 Q86UK0 ABCAC_HUMAN ATP-binding cassette, sub-family A (ABC1), member 12 1284 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) AAATACCAGGGAGCTGCCATA 0.403000 4 6 0 0 0.000248 0 0 SORBS2 8470 broad.mit.edu 37 4 186544548 186544548 + Missense_Mutation SNP C C T TCGA-BF-A1PV-01A-11D-A19A-08 TCGA-BF-A1PV-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0db1b3b6-b61c-4718-9cbf-65550d399bc7 792d1c6e-02b2-442b-a36e-d5a4afa5a6aa g.chr4:186544548C>T ENST00000431808.1 - 14 2586 c.2023G>A c.(2023-2025)Gaa>Aaa p.E675K SORBS2_ENST00000319471.9_Intron|SORBS2_ENST00000498125.1_Intron|SORBS2_ENST00000448662.2_Intron|SORBS2_ENST00000418609.1_Missense_Mutation_p.E579K|SORBS2_ENST00000437304.2_Intron|SORBS2_ENST00000449407.2_Intron|SORBS2_ENST00000355634.5_Missense_Mutation_p.E775K|SORBS2_ENST00000393528.3_Intron|SORBS2_ENST00000284776.7_Missense_Mutation_p.E675K O94875 SRBS2_HUMAN sorbin and SH3 domain containing 2 675 actin cytoskeleton|nucleus|perinuclear region of cytoplasm|Z disc cytoskeletal adaptor activity|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(21)|ovary(2)|prostate(2)|skin(4)|urinary_tract(1) 53 all_cancers(14;4.27e-52)|all_epithelial(14;6.58e-39)|all_lung(41;1.42e-13)|Lung NSC(41;3.73e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00692)|Hepatocellular(41;0.00826)|Renal(120;0.00994)|Prostate(90;0.0101)|all_hematologic(60;0.0174)|all_neural(102;0.244) OV - Ovarian serous cystadenocarcinoma(60;1.54e-09)|BRCA - Breast invasive adenocarcinoma(30;0.000232)|GBM - Glioblastoma multiforme(59;0.000385)|STAD - Stomach adenocarcinoma(60;0.00109)|LUSC - Lung squamous cell carcinoma(40;0.0205) CTGGCTCTTTCGTGTTTTAAC 0.542000 63 92 0 0 0.003610 0 0 SLC44A1 23446 broad.mit.edu 37 9 108123565 108123565 + Missense_Mutation SNP A A G TCGA-BF-A1PV-01A-11D-A19A-08 TCGA-BF-A1PV-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0db1b3b6-b61c-4718-9cbf-65550d399bc7 792d1c6e-02b2-442b-a36e-d5a4afa5a6aa g.chr9:108123565A>G ENST00000374720.3 + 8 1101 c.854A>G c.(853-855)aAt>aGt p.N285S SLC44A1_ENST00000374723.1_Missense_Mutation_p.N285S|SLC44A1_ENST00000374724.1_Missense_Mutation_p.N285S|SLC44A1_ENST00000343170.7_Missense_Mutation_p.N77S NM_080546.3 NP_536856.2 Q8WWI5 CTL1_HUMAN solute carrier family 44 (choline transporter), member 1 285 integral to membrane|mitochondrial outer membrane|plasma membrane choline transmembrane transporter activity breast(4)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(16)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1) 38 Choline(DB00122) GCTGAAGACAATCTTCGGGCC 0.463000 23 43 0 0 0.002780 0 0 IGHV3-43 28426 broad.mit.edu 37 14 106926361 106926361 + RNA SNP C C T TCGA-BF-A1PV-01A-11D-A19A-08 TCGA-BF-A1PV-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0db1b3b6-b61c-4718-9cbf-65550d399bc7 792d1c6e-02b2-442b-a36e-d5a4afa5a6aa g.chr14:106926361C>T ENST00000434710.1 - 0 260 AGACCCTTCCCCGGAGCTTGA 0.547000 39 55 0 0 0.005524 0 0 PWP1 11137 broad.mit.edu 37 12 108102893 108102893 + Missense_Mutation SNP G G A TCGA-BF-A1PV-01A-11D-A19A-08 TCGA-BF-A1PV-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0db1b3b6-b61c-4718-9cbf-65550d399bc7 792d1c6e-02b2-442b-a36e-d5a4afa5a6aa g.chr12:108102893G>A ENST00000412830.3 + 13 1342 c.1174G>A c.(1174-1176)Gat>Aat p.D392N PWP1_ENST00000541166.1_Missense_Mutation_p.D330N NM_007062.1 NP_008993.1 Q13610 PWP1_HUMAN PWP1 homolog (S. cerevisiae) 392 transcription, DNA-dependent nucleus breast(3)|endometrium(4)|kidney(1)|large_intestine(8)|lung(6)|urinary_tract(1) 23 TTTAGGTCTTGATCTTAGCAG 0.388000 12 14 0 0 0.000978 0 0 SPTA1 6708 broad.mit.edu 37 1 158606485 158606485 + Silent SNP C C T rs141683960 by1000genomes TCGA-BF-A1PV-01A-11D-A19A-08 TCGA-BF-A1PV-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0db1b3b6-b61c-4718-9cbf-65550d399bc7 792d1c6e-02b2-442b-a36e-d5a4afa5a6aa g.chr1:158606485C>T ENST00000368148.3 - 37 5436 c.5256G>A c.(5254-5256)ctG>ctA p.L1752L SPTA1_ENST00000368147.3_Silent_p.L1752L NM_003126.2 NP_003117.2 P02549 SPTA1_HUMAN spectrin, alpha, erythrocytic 1 (elliptocytosis 2) 1752 actin filament capping|actin filament organization|axon guidance|regulation of cell shape cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton actin filament binding|calcium ion binding|structural constituent of cytoskeleton NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6) 307 all_hematologic(112;0.0378) TGTGCTTCTTCAGCAAGTTCT 0.463000 16 29 0 0 0.004990 0 0 DEFB125 245938 broad.mit.edu 37 20 77012 77012 + Missense_Mutation SNP C C T TCGA-BF-A1PV-01A-11D-A19A-08 TCGA-BF-A1PV-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0db1b3b6-b61c-4718-9cbf-65550d399bc7 792d1c6e-02b2-442b-a36e-d5a4afa5a6aa g.chr20:77012C>T ENST00000382410.2 + 2 425 c.425C>T c.(424-426)tCc>tTc p.S142F NM_153325.2 NP_697020.2 Q8N687 DB125_HUMAN defensin, beta 125 142 defense response to bacterium extracellular region central_nervous_system(1)|large_intestine(1)|lung(7)|ovary(1)|skin(2) 12 all_cancers(10;7.65e-05)|Lung NSC(37;0.0417)|all_epithelial(17;0.0676)|all_lung(30;0.0713)|Breast(17;0.231) OV - Ovarian serous cystadenocarcinoma(29;0.156) ACTGCTACTTCCGAGACTATG 0.438000 27 39 0 0 0.001786 0 0 CDC42BPB 9578 broad.mit.edu 37 14 103432657 103432657 + Missense_Mutation SNP C C G TCGA-BF-A1PV-01A-11D-A19A-08 TCGA-BF-A1PV-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0db1b3b6-b61c-4718-9cbf-65550d399bc7 792d1c6e-02b2-442b-a36e-d5a4afa5a6aa g.chr14:103432657C>G ENST00000361246.2 - 18 2827 c.2539G>C c.(2539-2541)Gag>Cag p.E847Q NM_006035.3 NP_006026.3 Q9Y5S2 MRCKB_HUMAN CDC42 binding protein kinase beta (DMPK-like) 847 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) CTCAAAGCCTCGAGCTCTTCG 0.453000 28 37 0 0 0.006320 0 0 PRB2 653247 broad.mit.edu 37 12 11546911 11546911 + Splice_Site SNP C C T TCGA-BF-A1PV-01A-11D-A19A-08 TCGA-BF-A1PV-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0db1b3b6-b61c-4718-9cbf-65550d399bc7 792d1c6e-02b2-442b-a36e-d5a4afa5a6aa g.chr12:11546911C>T ENST00000389362.4 - 3 136 c.100_splice c.e3-1 p.G34_splice PRB2_ENST00000545829.1_5'UTR|PRB1_ENST00000546254.1_Intron NM_006248.3 NP_006239.3 proline-rich protein BstNI subfamily 2 NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(5)|skin(4)|stomach(2)|urinary_tract(1) 37 all_cancers(2;0.00558)|Acute lymphoblastic leukemia(2;3.94e-11)|all_hematologic(2;3.6e-09) OV - Ovarian serous cystadenocarcinoma(49;0.185) TTGTGGATTTCCTGGAGAACA 0.483000 29 43 0 0 0.002096 0 0 CTAGE1 64693 broad.mit.edu 37 18 19997134 19997134 + Missense_Mutation SNP C C T TCGA-BF-A1PV-01A-11D-A19A-08 TCGA-BF-A1PV-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0db1b3b6-b61c-4718-9cbf-65550d399bc7 792d1c6e-02b2-442b-a36e-d5a4afa5a6aa g.chr18:19997134C>T ENST00000391403.2 - 1 744 c.641G>A c.(640-642)aGa>aAa p.R214K NM_172241.2 NP_758441.2 Q96RT6 CTGE2_HUMAN cutaneous T-cell lymphoma-associated antigen 1 214 integral to membrane cervix(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(19)|ovary(1) 27 all_cancers(21;0.000361)|all_epithelial(16;9.61e-06)|Colorectal(14;0.0533)|Lung NSC(20;0.0605)|Ovarian(2;0.116)|all_lung(20;0.135) TTCAAATGTTCTTTTCTGTTT 0.363000 55 40 0 0 0.003610 0 0 EDEM3 80267 broad.mit.edu 37 1 184663419 184663419 + Silent SNP G G A TCGA-BF-A1PV-01A-11D-A19A-08 TCGA-BF-A1PV-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0db1b3b6-b61c-4718-9cbf-65550d399bc7 792d1c6e-02b2-442b-a36e-d5a4afa5a6aa g.chr1:184663419G>A ENST00000318130.8 - 20 2843 c.2577C>T c.(2575-2577)tcC>tcT p.S859S EDEM3_ENST00000367512.3_Silent_p.S832S NM_025191.3 NP_079467.3 Q9BZQ6 EDEM3_HUMAN ER degradation enhancer, mannosidase alpha-like 3 859 post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine|response to unfolded protein endoplasmic reticulum lumen|endoplasmic reticulum membrane calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity|misfolded protein binding breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 30 GTTCAGAAGGGGAAATGCTTG 0.373000 8 4 0 0 0.004482 0 0 ZNF804A 91752 broad.mit.edu 37 2 185802668 185802668 + Missense_Mutation SNP A A G TCGA-BF-A1PV-01A-11D-A19A-08 TCGA-BF-A1PV-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0db1b3b6-b61c-4718-9cbf-65550d399bc7 792d1c6e-02b2-442b-a36e-d5a4afa5a6aa g.chr2:185802668A>G ENST00000302277.6 + 4 3139 c.2545A>G c.(2545-2547)Ata>Gta p.I849V NM_194250.1 NP_919226.1 Q7Z570 Z804A_HUMAN zinc finger protein 804A 849 intracellular zinc ion binding NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1) 146 GGATAGGTTAATAAGTGAAGA 0.348000 7 11 0 0 0.004482 0 0 TMC5 79838 broad.mit.edu 37 16 19481053 19481053 + Missense_Mutation SNP G G A TCGA-BF-A1PV-01A-11D-A19A-08 TCGA-BF-A1PV-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0db1b3b6-b61c-4718-9cbf-65550d399bc7 792d1c6e-02b2-442b-a36e-d5a4afa5a6aa g.chr16:19481053G>A ENST00000396229.2 + 10 2437 c.1688G>A c.(1687-1689)gGa>gAa p.G563E TMC5_ENST00000219821.5_Missense_Mutation_p.G317E|TMC5_ENST00000381414.4_Missense_Mutation_p.G563E|TMC5_ENST00000564959.1_Missense_Mutation_p.G246E|TMC5_ENST00000561503.1_Missense_Mutation_p.G204E|TMC5_ENST00000542583.2_Missense_Mutation_p.G563E|TMC5_ENST00000541464.1_Missense_Mutation_p.G563E NM_001105248.1 NP_001098718.1 Q6UXY8 TMC5_HUMAN transmembrane channel-like 5 563 integral to membrane NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|liver(2)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 31 ATTTACTCCGGAGGGATCACC 0.448000 27 36 0 0 0.005443 0 0 ZNF765 91661 broad.mit.edu 37 19 53911308 53911308 + Missense_Mutation SNP C C T TCGA-BF-A1PV-01A-11D-A19A-08 TCGA-BF-A1PV-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0db1b3b6-b61c-4718-9cbf-65550d399bc7 792d1c6e-02b2-442b-a36e-d5a4afa5a6aa g.chr19:53911308C>T ENST00000396408.3 + 4 617 c.500C>T c.(499-501)tCt>tTt p.S167F ZNF765_ENST00000594030.1_Intron NM_001040185.1 NP_001035275.1 Q7L2R6 ZN765_HUMAN zinc finger protein 765 167 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(1)|lung(3) 4 GBM - Glioblastoma multiforme(134;0.00379) GTTGTGAAGTCTATCCACGAT 0.378000 24 18 0 0 0.002780 0 0 PLEKHA7 144100 broad.mit.edu 37 11 16816459 16816459 + Missense_Mutation SNP G G A TCGA-BF-A1PV-01A-11D-A19A-08 TCGA-BF-A1PV-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0db1b3b6-b61c-4718-9cbf-65550d399bc7 792d1c6e-02b2-442b-a36e-d5a4afa5a6aa g.chr11:16816459G>A ENST00000355661.3 - 18 2526 c.2516C>T c.(2515-2517)cCg>cTg p.P839L PLEKHA7_ENST00000532079.1_Intron|PLEKHA7_ENST00000531066.1_Missense_Mutation_p.P839L|PLEKHA7_ENST00000448080.2_Missense_Mutation_p.P839L Q6IQ23 PKHA7_HUMAN pleckstrin homology domain containing, family A member 7 839 epithelial cell-cell adhesion|zonula adherens maintenance centrosome|zonula adherens delta-catenin binding breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1) 37 CATCTCACCCGGATTTTTTAC 0.512000 41 40 0 0 0.002222 0 0 BIN2 51411 broad.mit.edu 37 12 51675263 51675263 + Missense_Mutation SNP G G A TCGA-BF-A1PV-01A-11D-A19A-08 TCGA-BF-A1PV-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0db1b3b6-b61c-4718-9cbf-65550d399bc7 792d1c6e-02b2-442b-a36e-d5a4afa5a6aa g.chr12:51675263G>A ENST00000604560.1 - 11 1561 c.1549C>T c.(1549-1551)Ctc>Ttc p.L517F BIN2_ENST00000544402.1_3'UTR|BIN2_ENST00000452142.2_3'UTR|BIN2_ENST00000267012.4_3'UTR Q9UBW5 BIN2_HUMAN bridging integrator 2 0 cytoplasm protein binding NS(2)|breast(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(3) 31 TGGGGCAGGAGGAGTCTTGGT 0.488000 14 24 0 0 0.004007 0 0 DMRT3 58524 broad.mit.edu 37 9 990589 990589 + Nonsense_Mutation SNP C C T TCGA-BF-A1PV-01A-11D-A19A-08 TCGA-BF-A1PV-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0db1b3b6-b61c-4718-9cbf-65550d399bc7 792d1c6e-02b2-442b-a36e-d5a4afa5a6aa g.chr9:990589C>T ENST00000190165.2 + 2 1041 c.1003C>T c.(1003-1005)Cga>Tga p.R335* NM_021240.2 NP_067063.1 Q9NQL9 DMRT3_HUMAN doublesex and mab-3 related transcription factor 3 335 cell differentiation|multicellular organismal development|sex differentiation nucleus DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1) 26 all_lung(10;1.39e-08)|Lung NSC(10;1.42e-08) Lung(218;0.0196) ATCAGCCTTTCGAGTCCCAGA 0.577000 26 17 0 0 0.007291 0 0 VAV2 7410 broad.mit.edu 37 9 136672436 136672436 + Missense_Mutation SNP G G A TCGA-BF-A1PV-01A-11D-A19A-08 TCGA-BF-A1PV-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0db1b3b6-b61c-4718-9cbf-65550d399bc7 792d1c6e-02b2-442b-a36e-d5a4afa5a6aa g.chr9:136672436G>A ENST00000371851.1 - 7 989 c.664C>T c.(664-666)Ccc>Tcc p.P222S VAV2_ENST00000406606.3_Missense_Mutation_p.P222S|VAV2_ENST00000371850.3_Missense_Mutation_p.P227S P52735 VAV2_HUMAN vav 2 guanine nucleotide exchange factor 227 DH. angiogenesis|apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol metal ion binding|Rho guanyl-nucleotide exchange factor activity breast(1)|central_nervous_system(3)|endometrium(1)|kidney(3)|large_intestine(5)|lung(13)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(1) 35 OV - Ovarian serous cystadenocarcinoma(145;3.9e-07)|Epithelial(140;2.07e-06)|all cancers(34;9.39e-06) AGCCGCAGGGGGCTCATGTAG 0.652000 29 22 0 0 0.003755 0 0 CHEK2P2 646096 broad.mit.edu 37 15 20496610 20496610 + RNA SNP G G A TCGA-BF-A1PV-01A-11D-A19A-08 TCGA-BF-A1PV-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0db1b3b6-b61c-4718-9cbf-65550d399bc7 792d1c6e-02b2-442b-a36e-d5a4afa5a6aa g.chr15:20496610G>A ENST00000555186.1 + 0 663 NR_038836.1 TCTACTAGTCGAAAGTGGCCT 0.438000 9 75 0 0 0.006214 0 0 DEF6 50619 broad.mit.edu 37 6 35285757 35285757 + Silent SNP G G A TCGA-BF-A1PV-01A-11D-A19A-08 TCGA-BF-A1PV-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0db1b3b6-b61c-4718-9cbf-65550d399bc7 792d1c6e-02b2-442b-a36e-d5a4afa5a6aa g.chr6:35285757G>A ENST00000316637.5 + 6 902 c.897G>A c.(895-897)caG>caA p.Q299Q DEF6_ENST00000542066.1_Silent_p.Q44Q|DEF6_ENST00000468102.1_3'UTR NM_022047.3 NP_071330.3 Q9H4E7 DEFI6_HUMAN differentially expressed in FDCP 6 homolog (mouse) 299 PH. cytoplasm|nucleus|plasma membrane cervix(1)|endometrium(2)|large_intestine(4)|lung(5)|ovary(1)|upper_aerodigestive_tract(2) 15 ACACGCGCCAGCGCCAGGAGT 0.597000 7 25 0 0 0.003080 0 0 CELF4 56853 broad.mit.edu 37 18 34853081 34853081 + Missense_Mutation SNP C C T TCGA-BF-A1PV-01A-11D-A19A-08 TCGA-BF-A1PV-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0db1b3b6-b61c-4718-9cbf-65550d399bc7 792d1c6e-02b2-442b-a36e-d5a4afa5a6aa g.chr18:34853081C>T ENST00000420428.2 - 7 1242 c.847G>A c.(847-849)Ggc>Agc p.G283S CELF4_ENST00000334919.5_Missense_Mutation_p.G273S|CELF4_ENST00000601019.1_Missense_Mutation_p.G281S|CELF4_ENST00000361795.5_Missense_Mutation_p.G281S|CELF4_ENST00000412753.1_Missense_Mutation_p.G282S|CELF4_ENST00000603232.1_Missense_Mutation_p.G282S|CELF4_ENST00000591287.1_Missense_Mutation_p.G282S|CELF4_ENST00000591282.1_Missense_Mutation_p.G283S|CELF4_ENST00000588597.1_Missense_Mutation_p.G272S NM_020180.3 NP_064565.1 Q9BZC1 CELF4_HUMAN CUGBP, Elav-like family member 4 283 Ala-rich.|Sufficient for RNA-binding and MSE- dependent splicing activity. embryo development|germ cell development|regulation of alternative nuclear mRNA splicing, via spliceosome cytoplasm|nucleus BRE binding|nucleotide binding|translation repressor activity, nucleic acid binding breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(18)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1) 44 TTCAGGTAGCCGCCCTGCGCG 0.642000 50 32 0 0 0.003610 0 0 DCAF13 25879 broad.mit.edu 37 8 104427557 104427557 + Silent SNP C C T TCGA-BF-A1PV-01A-11D-A19A-08 TCGA-BF-A1PV-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0db1b3b6-b61c-4718-9cbf-65550d399bc7 792d1c6e-02b2-442b-a36e-d5a4afa5a6aa g.chr8:104427557C>T ENST00000297579.5 + 1 616 c.339C>T c.(337-339)tcC>tcT p.S113S NM_015420.6 NP_056235.4 Q9NV06 DCA13_HUMAN DDB1 and CUL4 associated factor 13 0 rRNA processing CUL4 RING ubiquitin ligase complex|nucleolus|ribonucleoprotein complex NS(1)|breast(1)|kidney(2)|large_intestine(8)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 25 GCCGCCGCTCCGCGAGTCACG 0.637000 34 88 0 0 0.003755 0 0 OR14K1 343170 broad.mit.edu 37 1 247902629 247902629 + Missense_Mutation SNP A A G TCGA-BF-A1PV-01A-11D-A19A-08 TCGA-BF-A1PV-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0db1b3b6-b61c-4718-9cbf-65550d399bc7 792d1c6e-02b2-442b-a36e-d5a4afa5a6aa g.chr1:247902629A>G ENST00000283225.2 + 1 713 c.713A>G c.(712-714)aAc>aGc p.N238S RP11-634B7.4_ENST00000449298.1_RNA olfactory receptor, family 14, subfamily K, member 1 NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|lung(18)|ovary(1)|urinary_tract(1) 27 GCCTTTTCCAACTGTGTGCCT 0.408000 4 4 0 0 0.000248 0 0 NOTCH2NL 388677 broad.mit.edu 37 1 145281564 145281564 + Missense_Mutation SNP C C T TCGA-BF-A1PV-01A-11D-A19A-08 TCGA-BF-A1PV-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0db1b3b6-b61c-4718-9cbf-65550d399bc7 792d1c6e-02b2-442b-a36e-d5a4afa5a6aa g.chr1:145281564C>T ENST00000369340.3 + 5 938 c.494C>T c.(493-495)tCc>tTc p.S165F NOTCH2NL_ENST00000362074.6_Missense_Mutation_p.S165F|RP11-458D21.5_ENST00000468030.1_Missense_Mutation_p.S165F|NOTCH2NL_ENST00000344859.3_Missense_Mutation_p.S165F Q7Z3S9 NT2NL_HUMAN notch 2 N-terminal like 165 EGF-like 5; calcium-binding (Potential). cell differentiation|multicellular organismal development|Notch signaling pathway cytoplasm|extracellular region calcium ion binding p.S165F(4) NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 27 CTGCCTGGTTCCTACCAGTGC 0.577000 63 592 0 0 0.003610 0 0 PAFAH2 5051 broad.mit.edu 37 1 26301060 26301060 + Silent SNP G G A TCGA-BF-A1PV-01A-11D-A19A-08 TCGA-BF-A1PV-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0db1b3b6-b61c-4718-9cbf-65550d399bc7 792d1c6e-02b2-442b-a36e-d5a4afa5a6aa g.chr1:26301060G>A ENST00000374282.3 - 9 1019 c.840C>T c.(838-840)atC>atT p.I280I PAFAH2_ENST00000374284.1_Silent_p.I280I NM_000437.3 NP_000428.2 Q99487 PAFA2_HUMAN platelet-activating factor acetylhydrolase 2, 40kDa 280 lipid catabolic process cytoplasm 1-alkyl-2-acetylglycerophosphocholine esterase activity|phospholipid binding NS(1)|kidney(2)|large_intestine(2)|lung(1)|ovary(2)|urinary_tract(1) 9 Colorectal(325;3.47e-05)|Lung NSC(340;6.23e-05)|all_lung(284;9.48e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;3.84e-25)|Colorectal(126;3.57e-08)|COAD - Colon adenocarcinoma(152;1.84e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|BRCA - Breast invasive adenocarcinoma(304;0.00105)|STAD - Stomach adenocarcinoma(196;0.00155)|GBM - Glioblastoma multiforme(114;0.00717)|READ - Rectum adenocarcinoma(331;0.0649) TCTCAGTATTGATAAAGAACA 0.463000 14 27 0 0 0.003163 0 0 TTN 7273 broad.mit.edu 37 2 179638750 179638750 + Missense_Mutation SNP T T G TCGA-BF-A1PV-01A-11D-A19A-08 TCGA-BF-A1PV-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0db1b3b6-b61c-4718-9cbf-65550d399bc7 792d1c6e-02b2-442b-a36e-d5a4afa5a6aa g.chr2:179638750T>G ENST00000589042.1 - 31 7369 c.7145A>C c.(7144-7146)gAa>gCa p.E2382A TTN_ENST00000360870.5_Missense_Mutation_p.E2382A|TTN_ENST00000591111.1_Missense_Mutation_p.E2382A|TTN-AS1_ENST00000584485.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.E2336A|TTN_ENST00000342992.6_Missense_Mutation_p.E2382A|TTN_ENST00000342175.6_Missense_Mutation_p.E2336A|TTN_ENST00000359218.5_Missense_Mutation_p.E2336A NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 2105 Ig-like 13. 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) TTCCACACTTTCCAAGGAGAC 0.463000 10 12 0 0 0.006214 0 0 SNRNP200 23020 broad.mit.edu 37 2 96949059 96949059 + Missense_Mutation SNP G G A TCGA-BF-A1PV-01A-11D-A19A-08 TCGA-BF-A1PV-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0db1b3b6-b61c-4718-9cbf-65550d399bc7 792d1c6e-02b2-442b-a36e-d5a4afa5a6aa g.chr2:96949059G>A ENST00000323853.5 - 34 4872 c.4795C>T c.(4795-4797)Ccg>Tcg p.P1599S SNRNP200_ENST00000349783.5_Intron NM_014014.4 NP_054733.2 O75643 U520_HUMAN small nuclear ribonucleoprotein 200kDa (U5) 1599 Helicase C-terminal 2. catalytic step 2 spliceosome|nucleoplasm|U5 snRNP ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|lung(37)|ovary(7)|prostate(4)|skin(5)|stomach(1)|urinary_tract(1) 90 TCCAGGTACGGAATCAGATCC 0.567000 29 33 0 0 0.007291 0 0 ADAM21P1 145241 broad.mit.edu 37 14 70714022 70714022 + RNA SNP G G A TCGA-BF-A1PV-01A-11D-A19A-08 TCGA-BF-A1PV-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0db1b3b6-b61c-4718-9cbf-65550d399bc7 792d1c6e-02b2-442b-a36e-d5a4afa5a6aa g.chr14:70714022G>A ENST00000530196.1 - 0 496 NR_003951.1 CAGAGACTCAGGGGCACCCTC 0.502000 15 28 0 0 0.002299 0 0 UGT3A2 167127 broad.mit.edu 37 5 36049314 36049314 + Missense_Mutation SNP C C T TCGA-BF-A1PV-01A-11D-A19A-08 TCGA-BF-A1PV-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0db1b3b6-b61c-4718-9cbf-65550d399bc7 792d1c6e-02b2-442b-a36e-d5a4afa5a6aa g.chr5:36049314C>T ENST00000282507.3 - 4 621 c.520G>A c.(520-522)Gaa>Aaa p.E174K UGT3A2_ENST00000545528.1_Intron|UGT3A2_ENST00000513300.1_Missense_Mutation_p.E140K|UGT3A2_ENST00000504954.1_Intron NM_174914.3 NP_777574.2 Q3SY77 UD3A2_HUMAN UDP glycosyltransferase 3 family, polypeptide A2 174 integral to membrane glucuronosyltransferase activity NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(3) 43 all_lung(31;0.000179) Lung(74;0.111)|Epithelial(62;0.113)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) AGCCCAAATTCCAAAGAGCCG 0.448000 8 8 0 0 0.003080 0 0 MAP4K4 9448 broad.mit.edu 37 2 102446002 102446002 + Missense_Mutation SNP C C G TCGA-BF-A1PV-01A-11D-A19A-08 TCGA-BF-A1PV-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0db1b3b6-b61c-4718-9cbf-65550d399bc7 792d1c6e-02b2-442b-a36e-d5a4afa5a6aa g.chr2:102446002C>G ENST00000413150.2 + 6 509 c.454C>G c.(454-456)Cgg>Ggg p.R152G MAP4K4_ENST00000350198.4_Missense_Mutation_p.R152G|MAP4K4_ENST00000324219.4_Missense_Mutation_p.R152G|MAP4K4_ENST00000350878.4_Missense_Mutation_p.R132G|MAP4K4_ENST00000456652.1_Missense_Mutation_p.R152G|MAP4K4_ENST00000425019.1_Missense_Mutation_p.R152G|MAP4K4_ENST00000347699.4_Missense_Mutation_p.R152G|MAP4K4_ENST00000302217.5_Missense_Mutation_p.R152G NM_001242560.1|NM_004834.4 NP_001229489.1|NP_004825.3 O95819 M4K4_HUMAN mitogen-activated protein kinase kinase kinase kinase 4 152 Protein kinase. intracellular protein kinase cascade|regulation of JNK cascade|response to stress cytoplasm ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(15)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 41 TGTGATTCACCGGGATATCAA 0.443000 4 3 0 0 0.000602 0 0 IRF3 3661 broad.mit.edu 37 19 50166467 50166467 + Missense_Mutation SNP C C T TCGA-BF-A1PV-01A-11D-A19A-08 TCGA-BF-A1PV-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0db1b3b6-b61c-4718-9cbf-65550d399bc7 792d1c6e-02b2-442b-a36e-d5a4afa5a6aa g.chr19:50166467C>T ENST00000597198.1 - 4 767 c.386G>A c.(385-387)gGa>gAa p.G129E IRF3_ENST00000593922.1_5'UTR|IRF3_ENST00000377139.3_Missense_Mutation_p.G129E|IRF3_ENST00000596765.1_5'UTR|IRF3_ENST00000599144.1_5'UTR|IRF3_ENST00000600022.1_5'UTR|IRF3_ENST00000600911.1_Missense_Mutation_p.G129E|IRF3_ENST00000309877.7_Missense_Mutation_p.G129E|IRF3_ENST00000599223.1_Missense_Mutation_p.G129E|IRF3_ENST00000601291.1_Missense_Mutation_p.G129E|IRF3_ENST00000596822.1_5'UTR|IRF3_ENST00000377135.4_Missense_Mutation_p.G129E|IRF3_ENST00000598808.1_5'UTR|IRF3_ENST00000442265.2_Missense_Mutation_p.E72K Q14653 IRF3_HUMAN interferon regulatory factor 3 129 interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|MyD88-independent toll-like receptor signaling pathway|negative regulation of type I interferon production|response to virus|Toll signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway cytosol|endosome membrane|nucleoplasm|plasma membrane DNA binding|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription cofactor activity breast(1)|large_intestine(2)|lung(4)|ovary(2)|stomach(1) 10 all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728) OV - Ovarian serous cystadenocarcinoma(262;0.0011)|GBM - Glioblastoma multiforme(134;0.02) AGTACTGCCTCCACCATTGGT 0.572000 67 85 0 0 0.003610 0 0 OASL 8638 broad.mit.edu 37 12 121469308 121469308 + Silent SNP G G A TCGA-BF-A1PV-01A-11D-A19A-08 TCGA-BF-A1PV-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0db1b3b6-b61c-4718-9cbf-65550d399bc7 792d1c6e-02b2-442b-a36e-d5a4afa5a6aa g.chr12:121469308G>A ENST00000257570.5 - 3 864 c.594C>T c.(592-594)ttC>ttT p.F198F OASL_ENST00000339275.5_Silent_p.F198F NM_003733.3 NP_003724.1 Q15646 OASL_HUMAN 2'-5'-oligoadenylate synthetase-like 198 interferon-gamma-mediated signaling pathway|type I interferon-mediated signaling pathway cytoplasm|nucleolus ATP binding|DNA binding|double-stranded RNA binding|thyroid hormone receptor binding|transferase activity NS(1)|endometrium(3)|large_intestine(4)|lung(4)|skin(2) 14 all_neural(191;0.0684)|Medulloblastoma(191;0.0922) GATGTTTCACGAAATTTCTCT 0.587000 148 185 0 0 0.003610 0 0 KIAA1683 80726 broad.mit.edu 37 19 18376574 18376574 + Silent SNP G G A TCGA-BF-A1PV-01A-11D-A19A-08 TCGA-BF-A1PV-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0db1b3b6-b61c-4718-9cbf-65550d399bc7 792d1c6e-02b2-442b-a36e-d5a4afa5a6aa g.chr19:18376574G>A ENST00000392413.3 - 3 1991 c.1776C>T c.(1774-1776)gtC>gtT p.V592V KIAA1683_ENST00000600359.2_Silent_p.V546V|KIAA1683_ENST00000600328.2_Silent_p.V592V NM_001145304.1|NM_001145305.1|NM_025249.3 NP_001138776.1|NP_001138777.1|NP_079525.1 Q9H0B3 K1683_HUMAN KIAA1683 592 mitochondrion breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 37 CAGCCCTGGGGACCCCAGTTC 0.552000 19 21 0 0 0.008871 0 0 C12orf50 160419 broad.mit.edu 37 12 88379815 88379815 + Missense_Mutation SNP C C T TCGA-BF-A1PV-01A-11D-A19A-08 TCGA-BF-A1PV-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0db1b3b6-b61c-4718-9cbf-65550d399bc7 792d1c6e-02b2-442b-a36e-d5a4afa5a6aa g.chr12:88379815C>T ENST00000298699.2 - 11 1118 c.938G>A c.(937-939)aGa>aAa p.R313K C12orf50_ENST00000550553.1_Missense_Mutation_p.R274K NM_152589.1 NP_689802.1 Q8NA57 CL050_HUMAN chromosome 12 open reading frame 50 313 NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|skin(3)|urinary_tract(2) 34 ATTTTGGGGTCTTGGGGCCTG 0.423000 11 11 0 0 0.000978 0 0 ABCC11 85320 broad.mit.edu 37 16 48231955 48231955 + Silent SNP C C T TCGA-BF-A1PV-01A-11D-A19A-08 TCGA-BF-A1PV-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0db1b3b6-b61c-4718-9cbf-65550d399bc7 792d1c6e-02b2-442b-a36e-d5a4afa5a6aa g.chr16:48231955C>T ENST00000394747.1 - 16 2590 c.2241G>A c.(2239-2241)aaG>aaA p.K747K ABCC11_ENST00000353782.5_Silent_p.K747K|ABCC11_ENST00000394748.1_Silent_p.K747K|ABCC11_ENST00000356608.2_Silent_p.K747K|ABCC11_ENST00000537808.1_Intron NM_033151.3 NP_149163.2 Q96J66 ABCCB_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 11 747 integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(3)|prostate(2)|skin(5)|urinary_tract(2) 83 all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166) TCTCTGCTATCTTTGCTGTGT 0.557000 25 42 0 0 0.004656 0 0 COL4A2 1284 broad.mit.edu 37 13 111156271 111156271 + Missense_Mutation SNP C C T TCGA-BF-A1PV-01A-11D-A19A-08 TCGA-BF-A1PV-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0db1b3b6-b61c-4718-9cbf-65550d399bc7 792d1c6e-02b2-442b-a36e-d5a4afa5a6aa g.chr13:111156271C>T ENST00000360467.5 + 44 4522 c.4216C>T c.(4216-4218)Ccc>Tcc p.P1406S COL4A2-AS1_ENST00000417970.2_RNA NM_001846.2 NP_001837.2 P08572 CO4A2_HUMAN collagen, type IV, alpha 2 1406 Triple-helical region. angiogenesis|axon guidance|extracellular matrix organization|negative regulation of angiogenesis collagen type IV extracellular matrix structural constituent|protein binding NS(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|liver(2)|lung(48)|ovary(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 80 all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922) Breast(118;0.212) BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151) GACAGTGGGTCCCCAGGGGAG 0.711000 34 44 0 0 0.002445 0 0 NLRP10 338322 broad.mit.edu 37 11 7984773 7984773 + Silent SNP G G A TCGA-BF-A1PV-01A-11D-A19A-08 TCGA-BF-A1PV-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0db1b3b6-b61c-4718-9cbf-65550d399bc7 792d1c6e-02b2-442b-a36e-d5a4afa5a6aa g.chr11:7984773G>A ENST00000328600.2 - 1 431 c.270C>T c.(268-270)ctC>ctT p.L90L NM_176821.3 NP_789791.1 Q86W26 NAL10_HUMAN NLR family, pyrin domain containing 10 90 DAPIN. ATP binding breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2) 58 Epithelial(150;1.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189) AAATATGGCTGAGCTGGTCCA 0.527000 15 24 0 0 0.004007 0 0 KIAA2022 340533 broad.mit.edu 37 X 73960249 73960249 + Silent SNP G G A TCGA-BF-A1PV-01A-11D-A19A-08 TCGA-BF-A1PV-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0db1b3b6-b61c-4718-9cbf-65550d399bc7 792d1c6e-02b2-442b-a36e-d5a4afa5a6aa g.chrX:73960249G>A ENST00000373468.1 - 3 4794 c.4143C>T c.(4141-4143)atC>atT p.I1381I KIAA2022_ENST00000055682.5_Silent_p.I1381I Q5QGS0 K2022_HUMAN KIAA2022 1381 base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|S phase of mitotic cell cycle delta DNA polymerase complex 3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3) 109 ACCCACTGTTGATCTTTTTCT 0.443000 21 23 0 0 0.001882 0 0 FER1L6 654463 broad.mit.edu 37 8 125107223 125107223 + Missense_Mutation SNP C C T TCGA-BF-A1PV-01A-11D-A19A-08 TCGA-BF-A1PV-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0db1b3b6-b61c-4718-9cbf-65550d399bc7 792d1c6e-02b2-442b-a36e-d5a4afa5a6aa g.chr8:125107223C>T ENST00000522917.1 + 35 4845 c.4639C>T c.(4639-4641)Cct>Tct p.P1547S FER1L6-AS2_ENST00000520031.1_RNA|FER1L6_ENST00000399018.1_Missense_Mutation_p.P1547S NM_001039112.2 NP_001034201.2 Q2WGJ9 FR1L6_HUMAN fer-1-like 6 (C. elegans) 1547 integral to membrane p.P1547S(1) NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1) 118 Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741) STAD - Stomach adenocarcinoma(47;0.00186) TAGGCTGGTTCCTGAACACAT 0.483000 32 17 0 0 0.004289 0 0 LILRP2 79166 broad.mit.edu 37 19 55221674 55221674 + RNA SNP C C T TCGA-BF-A1PV-01A-11D-A19A-08 TCGA-BF-A1PV-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0db1b3b6-b61c-4718-9cbf-65550d399bc7 792d1c6e-02b2-442b-a36e-d5a4afa5a6aa g.chr19:55221674C>T ENST00000413439.1 + 0 1415 ACCCACGCTCCGCACAGGCCC 0.667000 5 13 0 0 0.000602 0 0 POTEC 388468 broad.mit.edu 37 18 14542973 14542973 + Missense_Mutation SNP C C T TCGA-BF-A1PV-01A-11D-A19A-08 TCGA-BF-A1PV-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0db1b3b6-b61c-4718-9cbf-65550d399bc7 792d1c6e-02b2-442b-a36e-d5a4afa5a6aa g.chr18:14542973C>T ENST00000358970.5 - 1 172 c.173G>A c.(172-174)aGg>aAg p.R58K POTEC_ENST00000389891.4_5'UTR NM_001137671.1 NP_001131143.1 B2RU33 POTEC_HUMAN POTE ankyrin domain family, member C 58 NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3) 52 CATCTTGCTCCTGAGCATCTT 0.582000 43 319 0 0 0.003610 0 0 SRSF11 9295 broad.mit.edu 37 1 70715641 70715641 + Silent SNP A A G TCGA-BF-A1PV-01A-11D-A19A-08 TCGA-BF-A1PV-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0db1b3b6-b61c-4718-9cbf-65550d399bc7 792d1c6e-02b2-442b-a36e-d5a4afa5a6aa g.chr1:70715641A>G ENST00000370950.3 + 11 1111 c.1029A>G c.(1027-1029)agA>agG p.R343R SRSF11_ENST00000370951.1_Silent_p.R343R|SRSF11_ENST00000370949.1_Silent_p.R283R|SRSF11_ENST00000405432.1_Silent_p.R343R|SRSF11_ENST00000484162.1_3'UTR Q05519 SRS11_HUMAN serine/arginine-rich splicing factor 11 343 10 X 8 AA approximate repeats of R-R-S-R- S-R-S-R.|Poly-Arg. mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription nucleoplasm nucleotide binding|protein binding|RNA binding large_intestine(3)|ovary(2)|skin(1) 6 CTAGAGAGAGACGACGACGAA 0.408000 3 20 0 0 0.004672 0 0 PZP 5858 broad.mit.edu 37 12 9346693 9346693 + Missense_Mutation SNP C C T TCGA-BF-A1PV-01A-11D-A19A-08 TCGA-BF-A1PV-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0db1b3b6-b61c-4718-9cbf-65550d399bc7 792d1c6e-02b2-442b-a36e-d5a4afa5a6aa g.chr12:9346693C>T ENST00000261336.2 - 11 1262 c.1234G>A c.(1234-1236)Gtt>Att p.V412I PZP_ENST00000381997.2_Missense_Mutation_p.V281I NM_002864.2 NP_002855.2 pregnancy-zone protein breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(21)|lung(46)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(5) 102 AGTTTATTAACCGAGATACTG 0.378000 11 29 0 0 0.002450 0 0 RNF123 63891 broad.mit.edu 37 3 49753064 49753064 + Missense_Mutation SNP C C T TCGA-BF-A1PV-01A-11D-A19A-08 TCGA-BF-A1PV-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0db1b3b6-b61c-4718-9cbf-65550d399bc7 792d1c6e-02b2-442b-a36e-d5a4afa5a6aa g.chr3:49753064C>T ENST00000327697.6 + 32 3211 c.3067C>T c.(3067-3069)Cct>Tct p.P1023S RNF123_ENST00000433785.1_Missense_Mutation_p.P135S NM_022064.3 NP_071347.2 Q5XPI4 RN123_HUMAN ring finger protein 123 1023 cytoplasm ligase activity|protein binding|zinc ion binding NS(1)|breast(4)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 38 BRCA - Breast invasive adenocarcinoma(193;4.71e-05)|Kidney(197;0.00227)|KIRC - Kidney renal clear cell carcinoma(197;0.00255) ACAGCAGGGTCCTGATGTGGC 0.612000 20 34 0 0 0.008871 0 0 GGT6 124975 broad.mit.edu 37 17 4461605 4461605 + Missense_Mutation SNP C C T TCGA-BF-A1PV-01A-11D-A19A-08 TCGA-BF-A1PV-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0db1b3b6-b61c-4718-9cbf-65550d399bc7 792d1c6e-02b2-442b-a36e-d5a4afa5a6aa g.chr17:4461605C>T ENST00000301395.3 - 3 1150 c.1091G>A c.(1090-1092)aGt>aAt p.S364N GGT6_ENST00000381550.3_Missense_Mutation_p.S402N|GGT6_ENST00000574154.1_Missense_Mutation_p.S396N|GGT6_ENST00000573591.1_Missense_Mutation_p.S248N NM_153338.2 NP_699169.2 Q6P531 GGT6_HUMAN gamma-glutamyltransferase 6 396 glutathione biosynthetic process integral to membrane acyltransferase activity|gamma-glutamyltransferase activity endometrium(2)|large_intestine(1)|lung(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 8 GGCCCAGGCACTAGTGGTAGA 0.622000 26 41 0 0 0.006320 0 0 MTM1 4534 broad.mit.edu 37 X 149831957 149831957 + Missense_Mutation SNP G G A TCGA-BF-A1PV-01A-11D-A19A-08 TCGA-BF-A1PV-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0db1b3b6-b61c-4718-9cbf-65550d399bc7 792d1c6e-02b2-442b-a36e-d5a4afa5a6aa g.chrX:149831957G>A ENST00000370396.2 + 14 1573 c.1519G>A c.(1519-1521)Gaa>Aaa p.E507K MTM1_ENST00000542741.1_3'UTR|MTM1_ENST00000543350.1_Missense_Mutation_p.E392K|MTM1_ENST00000413012.2_Missense_Mutation_p.E470K|MTM1_ENST00000306167.7_3'UTR NM_000252.2 NP_000243.1 Q13496 MTM1_HUMAN myotubularin 1 507 Myotubularin phosphatase. endosome to lysosome transport|intermediate filament organization|mitochondrion distribution|mitochondrion morphogenesis|phosphatidylinositol dephosphorylation|protein transport|regulation of vacuole organization filopodium|late endosome|plasma membrane|ruffle intermediate filament binding|phosphatidylinositol binding|phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein tyrosine phosphatase activity breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|liver(1)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 26 Acute lymphoblastic leukemia(192;6.56e-05) CAGTAATAAAGAAAAATTCAA 0.363000 8 17 0 0 0.004482 0 0 VPS13B 157680 broad.mit.edu 37 8 100479817 100479817 + Silent SNP C C T TCGA-BF-A1PV-01A-11D-A19A-08 TCGA-BF-A1PV-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0db1b3b6-b61c-4718-9cbf-65550d399bc7 792d1c6e-02b2-442b-a36e-d5a4afa5a6aa g.chr8:100479817C>T ENST00000395996.1 + 24 3732 c.3621C>T c.(3619-3621)ctC>ctT p.L1207L VPS13B_ENST00000358544.2_Silent_p.L1207L|VPS13B_ENST00000357162.2_Silent_p.L1207L Q7Z7G8 VP13B_HUMAN vacuolar protein sorting 13 homolog B (yeast) 1207 protein transport NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9) 193 Breast(36;3.73e-07) OV - Ovarian serous cystadenocarcinoma(57;0.00636) TTGTCTGTCTCCATGTTGACC 0.408000 18 25 0 0 0.008871 0 0 AKAP13 11214 broad.mit.edu 37 15 86265545 86265545 + Missense_Mutation SNP G G A TCGA-BF-A1PV-01A-11D-A19A-08 TCGA-BF-A1PV-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0db1b3b6-b61c-4718-9cbf-65550d399bc7 792d1c6e-02b2-442b-a36e-d5a4afa5a6aa g.chr15:86265545G>A ENST00000394518.2 + 25 6558 c.6463G>A c.(6463-6465)Gtt>Att p.V2155I AKAP13_ENST00000361243.2_Missense_Mutation_p.V2159I|AKAP13_ENST00000560579.1_3'UTR|AKAP13_ENST00000394510.2_Missense_Mutation_p.V400I NM_001270546.1|NM_007200.3 NP_001257475.1|NP_009131.2 Q12802 AKP13_HUMAN A kinase (PRKA) anchor protein 13 2155 DH.|Interaction with ESR1. apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|membrane|membrane fraction|nucleus cAMP-dependent protein kinase activity|metal ion binding|protein binding|Rho guanyl-nucleotide exchange factor activity|signal transducer activity NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 98 CAAGTACCCAGTTTTATTCCA 0.433000 29 43 0 0 0.008361 0 0 MUC17 140453 broad.mit.edu 37 7 100684532 100684532 + Missense_Mutation SNP G G A rs143002700 byFrequency TCGA-BF-A1PV-01A-11D-A19A-08 TCGA-BF-A1PV-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0db1b3b6-b61c-4718-9cbf-65550d399bc7 792d1c6e-02b2-442b-a36e-d5a4afa5a6aa g.chr7:100684532G>A ENST00000306151.4 + 3 9899 c.9835G>A c.(9835-9837)Gga>Aga p.G3279R NM_001040105.1 NP_001035194.1 Q685J3 MUC17_HUMAN mucin 17, cell surface associated 3279 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) TCCTAGTGAAGGAAGCACTCC 0.512000 88 185 0 0 0.003610 0 0 PLCXD3 345557 broad.mit.edu 37 5 41382221 41382221 + Silent SNP C C T TCGA-BF-A1PV-01A-11D-A19A-08 TCGA-BF-A1PV-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0db1b3b6-b61c-4718-9cbf-65550d399bc7 792d1c6e-02b2-442b-a36e-d5a4afa5a6aa g.chr5:41382221C>T ENST00000377801.3 - 2 593 c.519G>A c.(517-519)gcG>gcA p.A173A PLCXD3_ENST00000328457.3_Silent_p.A173A Q63HM9 PLCX3_HUMAN phosphatidylinositol-specific phospholipase C, X domain containing 3 173 PI-PLC X-box. intracellular signal transduction|lipid catabolic process phospholipase C activity|signal transducer activity central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 37 GGGCAAAAATCGCTGGGCACA 0.428000 10 14 0 0 0.008291 0 0 SYNJ1 8867 broad.mit.edu 37 21 34018757 34018757 + Missense_Mutation SNP G G A TCGA-BF-A1PV-01A-11D-A19A-08 TCGA-BF-A1PV-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0db1b3b6-b61c-4718-9cbf-65550d399bc7 792d1c6e-02b2-442b-a36e-d5a4afa5a6aa g.chr21:34018757G>A ENST00000382499.2 - 24 3309 c.3310C>T c.(3310-3312)Ccc>Tcc p.P1104S SYNJ1_ENST00000433931.2_Missense_Mutation_p.P1104S|SYNJ1_ENST00000382491.3_Missense_Mutation_p.P1060S|SYNJ1_ENST00000357345.3_Missense_Mutation_p.P1065S|SYNJ1_ENST00000322229.7_Missense_Mutation_p.P1065S NM_203446.2 NP_982271.2 O43426 SYNJ1_HUMAN synaptojanin 1 1065 Pro-rich. Missing (in Ref. 1; BAA74933). inositol-polyphosphate 5-phosphatase activity|nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|lung(11)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2) 57 GGTCTGATGGGAAGGGAAGGT 0.527000 59 77 0 0 0.003610 0 0 OR1S1 219959 broad.mit.edu 37 11 57982301 57982301 + Missense_Mutation SNP G G A TCGA-BF-A1PV-01A-11D-A19A-08 TCGA-BF-A1PV-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0db1b3b6-b61c-4718-9cbf-65550d399bc7 792d1c6e-02b2-442b-a36e-d5a4afa5a6aa g.chr11:57982301G>A ENST00000309433.6 + 1 85 c.85G>A c.(85-87)Gga>Aga p.G29R NM_001004458.1 NP_001004458.1 Q8NH92 OR1S1_HUMAN olfactory receptor, family 1, subfamily S, member 1 29 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(1)|endometrium(24)|kidney(1)|large_intestine(1)|liver(1)|lung(10)|prostate(1)|skin(2)|stomach(3)|urinary_tract(3) 48 Breast(21;0.0589) CATTCTCCTGGGATTTTTCAA 0.418000 14 28 0 0 0.002450 0 0 CEL 1056 broad.mit.edu 37 9 135940078 135940078 + Missense_Mutation SNP C C T TCGA-BF-A1PV-01A-11D-A19A-08 TCGA-BF-A1PV-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0db1b3b6-b61c-4718-9cbf-65550d399bc7 792d1c6e-02b2-442b-a36e-d5a4afa5a6aa g.chr9:135940078C>T ENST00000372080.4 + 3 294 c.278C>T c.(277-279)aCc>aTc p.T93I CEL_ENST00000351304.7_Missense_Mutation_p.T90I NM_001807.3 NP_001798.2 P19835 CEL_HUMAN carboxyl ester lipase 90 Heparin-binding. cholesterol catabolic process|fatty acid catabolic process|intestinal cholesterol absorption|intestinal lipid catabolic process|pancreatic juice secretion|protein esterification cytosol|extracellular space acylglycerol lipase activity|carboxylesterase activity|heparin binding|sterol esterase activity|triglyceride lipase activity NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(9)|pancreas(2)|skin(1) 20 OV - Ovarian serous cystadenocarcinoma(145;1.03e-40)|Epithelial(140;3.58e-37)|GBM - Glioblastoma multiforme(294;0.00164)|READ - Rectum adenocarcinoma(205;0.196) GCCACCATCACCCAGGACAGC 0.617000 46 154 0 0 0.003610 0 0 GOT1 2805 broad.mit.edu 37 10 101165984 101165984 + Silent SNP G G A TCGA-BF-A1PV-01A-11D-A19A-08 TCGA-BF-A1PV-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0db1b3b6-b61c-4718-9cbf-65550d399bc7 792d1c6e-02b2-442b-a36e-d5a4afa5a6aa g.chr10:101165984G>A ENST00000370508.5 - 4 474 c.447C>T c.(445-447)tcC>tcT p.S149S GOT1_ENST00000543866.1_Silent_p.S128S NM_002079.2 NP_002070.1 P17174 AATC_HUMAN glutamic-oxaloacetic transaminase 1, soluble 149 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) AACCAGCAGCGGAAAACACAG 0.463000 29 31 0 0 0.002836 0 0 TINAG 27283 broad.mit.edu 37 6 54191661 54191661 + Missense_Mutation SNP C C T rs115438249 byFrequency TCGA-BF-A1PV-01A-11D-A19A-08 TCGA-BF-A1PV-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0db1b3b6-b61c-4718-9cbf-65550d399bc7 792d1c6e-02b2-442b-a36e-d5a4afa5a6aa g.chr6:54191661C>T ENST00000259782.4 + 4 667 c.571C>T c.(571-573)Cgc>Tgc p.R191C TINAG_ENST00000370869.3_Missense_Mutation_p.R187C|TINAG_ENST00000370864.3_Missense_Mutation_p.R173C NM_014464.3 NP_055279.3 Q9UJW2 TINAG_HUMAN tubulointerstitial nephritis antigen 191 cell adhesion|immune response|Malpighian tubule morphogenesis|proteolysis basement membrane cysteine-type endopeptidase activity|nucleotide binding|polysaccharide binding|scavenger receptor activity p.R191C(1) NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(4)|skin(1) 34 Lung NSC(77;0.0518) LUSC - Lung squamous cell carcinoma(124;0.246) TTTTAAATTTCGCCTTGGCAC 0.373000 7 13 0 0 0.004482 0 0 TTC7A 57217 broad.mit.edu 37 2 47249054 47249054 + Silent SNP C C T TCGA-BF-A1PV-01A-11D-A19A-08 TCGA-BF-A1PV-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0db1b3b6-b61c-4718-9cbf-65550d399bc7 792d1c6e-02b2-442b-a36e-d5a4afa5a6aa g.chr2:47249054C>T ENST00000319190.5 + 12 1814 c.1446C>T c.(1444-1446)gcC>gcT p.A482A TTC7A_ENST00000461601.1_3'UTR|TTC7A_ENST00000409245.1_Silent_p.A448A|TTC7A_ENST00000394850.2_Silent_p.A482A|TTC7A_ENST00000263737.6_Silent_p.A128A NM_020458.2 NP_065191.2 Q9ULT0 TTC7A_HUMAN tetratricopeptide repeat domain 7A 482 binding breast(4)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 25 all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18) Lung(47;0.0792)|LUSC - Lung squamous cell carcinoma(58;0.114) GAGAGGAAGCCGGGGAGTTCC 0.607000 39 44 0 0 0.007835 0 0 SLC19A1 6573 broad.mit.edu 37 21 46951827 46951827 + Missense_Mutation SNP G G A TCGA-BF-A1PV-01A-11D-A19A-08 TCGA-BF-A1PV-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0db1b3b6-b61c-4718-9cbf-65550d399bc7 792d1c6e-02b2-442b-a36e-d5a4afa5a6aa g.chr21:46951827G>A ENST00000311124.4 - 3 577 c.425C>T c.(424-426)tCt>tTt p.S142F SLC19A1_ENST00000567670.1_Missense_Mutation_p.S142F|SLC19A1_ENST00000485649.2_Missense_Mutation_p.S102F|SLC19A1_ENST00000380010.4_Missense_Mutation_p.S142F NM_194255.2 NP_919231.1 P41440 S19A1_HUMAN solute carrier family 19 (folate transporter), member 1 142 folic acid metabolic process integral to plasma membrane|membrane fraction folic acid binding|folic acid transporter activity|methotrexate transporter activity|reduced folate carrier activity endometrium(4)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)|skin(1)|urinary_tract(1) 10 Colorectal(79;0.0569)|READ - Rectum adenocarcinoma(84;0.172) CCGCACGAGAGAGAAGATGTA 0.672000 3 6 0 0 0.004672 0 0 SPN 6693 broad.mit.edu 37 16 29675424 29675424 + Silent SNP A A G TCGA-BF-A1PV-01A-11D-A19A-08 TCGA-BF-A1PV-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0db1b3b6-b61c-4718-9cbf-65550d399bc7 792d1c6e-02b2-442b-a36e-d5a4afa5a6aa g.chr16:29675424A>G ENST00000360121.3 + 2 467 c.375A>G c.(373-375)ctA>ctG p.L125L SPN_ENST00000395389.2_Silent_p.L125L|AC009133.19_ENST00000449759.1_Intron NM_001030288.2|NM_003123.4 NP_001025459.1|NP_003114.1 P16150 LEUK_HUMAN sialophorin 125 blood coagulation|cellular defense response|chemotaxis|defense response to bacterium|establishment or maintenance of cell polarity|immune response|leukocyte migration|negative regulation of cell adhesion|positive regulation of tumor necrosis factor biosynthetic process extracellular space|integral to plasma membrane bacterial cell surface binding|transmembrane receptor activity central_nervous_system(2)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|skin(2)|stomach(1) 15 CAAACTCTCTAGGATCCCACA 0.527000 47 50 0 0 0.003610 0 0 CCDC138 165055 broad.mit.edu 37 2 109489947 109489947 + Missense_Mutation SNP A A T TCGA-BF-A1PV-01A-11D-A19A-08 TCGA-BF-A1PV-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0db1b3b6-b61c-4718-9cbf-65550d399bc7 792d1c6e-02b2-442b-a36e-d5a4afa5a6aa g.chr2:109489947A>T ENST00000295124.4 + 14 1794 c.1734A>T c.(1732-1734)ttA>ttT p.L578F CCDC138_ENST00000412964.2_Intron NM_144978.1 NP_659415.1 Q96M89 CC138_HUMAN coiled-coil domain containing 138 578 endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1) 14 GCAACTCTTTATTTTTTCGTA 0.368000 13 9 0 0 0.001368 0 0 BCL11A 53335 broad.mit.edu 37 2 60689199 60689199 + Missense_Mutation SNP C C T TCGA-BF-A1PV-01A-11D-A19A-08 TCGA-BF-A1PV-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0db1b3b6-b61c-4718-9cbf-65550d399bc7 792d1c6e-02b2-442b-a36e-d5a4afa5a6aa g.chr2:60689199C>T ENST00000335712.6 - 4 1075 c.848G>A c.(847-849)gGg>gAg p.G283E BCL11A_ENST00000477659.1_5'UTR|BCL11A_ENST00000538214.1_Missense_Mutation_p.G249E|BCL11A_ENST00000358510.4_Missense_Mutation_p.G249E|BCL11A_ENST00000356842.4_Missense_Mutation_p.G283E|BCL11A_ENST00000359629.5_Intron|BCL11A_ENST00000537768.1_Intron NM_022893.3 NP_075044.2 Q9H165 BC11A_HUMAN B-cell CLL/lymphoma 11A (zinc finger protein) 283 Pro-rich. negative regulation of axon extension|negative regulation of collateral sprouting|negative regulation of dendrite development|positive regulation of collateral sprouting|positive regulation of neuron projection development|positive regulation of transcription from RNA polymerase II promoter|protein sumoylation|regulation of dendrite development|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus nucleic acid binding|protein heterodimerization activity|protein homodimerization activity|zinc ion binding NS(1)|breast(6)|central_nervous_system(6)|endometrium(4)|kidney(1)|large_intestine(8)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3) 59 LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199) CTCTTCCGCCCCCAGGCGCTC 0.627000 T IGH@ B-CLL 242 334 0 0 0.003610 0 0 SOX3 6658 broad.mit.edu 37 X 139586840 139586840 + Missense_Mutation SNP C C G TCGA-BF-A1PV-01A-11D-A19A-08 TCGA-BF-A1PV-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0db1b3b6-b61c-4718-9cbf-65550d399bc7 792d1c6e-02b2-442b-a36e-d5a4afa5a6aa g.chrX:139586840C>G ENST00000370536.2 - 1 385 c.386G>C c.(385-387)gGa>gCa p.G129A NM_005634.2 NP_005625.2 P41225 SOX3_HUMAN SRY (sex determining region Y)-box 3 129 Poly-Gly. face development|hypothalamus development|negative regulation of neuron differentiation|pituitary gland development|regulation of transcription, DNA-dependent|sensory organ development|sex determination|transcription, DNA-dependent nucleus DNA binding haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|pancreas(1)|skin(1) 10 Acute lymphoblastic leukemia(192;7.65e-05) CCCGCCACCTCCGCTCGCACC 0.721000 4 29 0 0 0.000248 0 0 ZNRF4 148066 broad.mit.edu 37 19 5455739 5455739 + Silent SNP C C T TCGA-BF-A1PV-01A-11D-A19A-08 TCGA-BF-A1PV-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0db1b3b6-b61c-4718-9cbf-65550d399bc7 792d1c6e-02b2-442b-a36e-d5a4afa5a6aa g.chr19:5455739C>T ENST00000222033.4 + 1 314 c.237C>T c.(235-237)gcC>gcT p.A79A NM_181710.3 NP_859061.3 Q8WWF5 ZNRF4_HUMAN zinc and ring finger 4 79 integral to membrane zinc ion binding NS(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 16 UCEC - Uterine corpus endometrioid carcinoma (162;0.0002) CGGGCCGAGCCCTCGTGGCAG 0.667000 51 61 0 0 0.003610 0 0 PIP5K1B 8395 broad.mit.edu 37 9 71606060 71606060 + Missense_Mutation SNP G G A rs138893749 TCGA-BF-A1PV-01A-11D-A19A-08 TCGA-BF-A1PV-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0db1b3b6-b61c-4718-9cbf-65550d399bc7 792d1c6e-02b2-442b-a36e-d5a4afa5a6aa g.chr9:71606060G>A ENST00000265382.3 + 15 1812 c.1507G>A c.(1507-1509)Ggg>Agg p.503_503insR PIP5K1B_ENST00000541509.1_Intron NM_003558.2 NP_003549.1 O14986 PI51B_HUMAN phosphatidylinositol-4-phosphate 5-kinase, type I, beta 0 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) TTCCAGCAAAGGGTTACCTTC 0.478000 23 20 0 0 0.002780 0 0 CTNNA2 1496 broad.mit.edu 37 2 80085151 80085151 + Missense_Mutation SNP G G A TCGA-BF-A1PV-01A-11D-A19A-08 TCGA-BF-A1PV-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0db1b3b6-b61c-4718-9cbf-65550d399bc7 792d1c6e-02b2-442b-a36e-d5a4afa5a6aa g.chr2:80085151G>A ENST00000466387.1 + 8 1035 c.311G>A c.(310-312)cGg>cAg p.R104Q CTNNA2_ENST00000402739.4_Missense_Mutation_p.R104Q|CTNNA2_ENST00000361291.4_Missense_Mutation_p.R138Q|CTNNA2_ENST00000541047.1_Missense_Mutation_p.R104Q|CTNNA2_ENST00000496558.1_Missense_Mutation_p.R104Q|CTNNA2_ENST00000540488.1_Missense_Mutation_p.R104Q P26232 CTNA2_HUMAN catenin (cadherin-associated protein), alpha 2 104 axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity actin cytoskeleton|axon|cytosol cadherin binding|structural constituent of cytoskeleton breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 78 GAGACGATGCGGATCGCCTCC 0.562000 33 49 0 0 0.002836 0 0 ITGAX 3687 broad.mit.edu 37 16 31382410 31382410 + Silent SNP C C T TCGA-BF-A1PV-01A-11D-A19A-08 TCGA-BF-A1PV-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0db1b3b6-b61c-4718-9cbf-65550d399bc7 792d1c6e-02b2-442b-a36e-d5a4afa5a6aa g.chr16:31382410C>T ENST00000268296.4 + 15 1837 c.1716C>T c.(1714-1716)atC>atT p.I572I ITGAX_ENST00000562522.1_Silent_p.I572I NM_000887.3 NP_000878.2 P20702 ITAX_HUMAN integrin, alpha X (complement component 3 receptor 4 subunit) 572 blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration|organ morphogenesis integrin complex protein binding|receptor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(42)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 77 GCCAGCGGATCGCGGGCTCCC 0.567000 55 79 0 0 0.003610 0 0 FARP2 9855 broad.mit.edu 37 2 242396210 242396210 + Missense_Mutation SNP C C T TCGA-BF-A1PV-01A-11D-A19A-08 TCGA-BF-A1PV-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0db1b3b6-b61c-4718-9cbf-65550d399bc7 792d1c6e-02b2-442b-a36e-d5a4afa5a6aa g.chr2:242396210C>T ENST00000264042.3 + 14 1630 c.1460C>T c.(1459-1461)cCc>cTc p.P487L FARP2_ENST00000373287.4_Missense_Mutation_p.P487L|FARP2_ENST00000545004.1_Missense_Mutation_p.P487L NM_014808.2 NP_055623.1 O94887 FARP2_HUMAN FERM, RhoGEF and pleckstrin domain protein 2 487 Pro-rich. axon guidance|neuron remodeling|Rac protein signal transduction|regulation of Rho protein signal transduction cytoskeleton|cytosol|extrinsic to membrane cytoskeletal protein binding|Rho guanyl-nucleotide exchange factor activity breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 43 all_cancers(19;4.88e-34)|all_epithelial(40;4.81e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Lung NSC(271;0.0886)|Ovarian(221;0.0905)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.238) Epithelial(32;1.81e-33)|all cancers(36;1.61e-30)|OV - Ovarian serous cystadenocarcinoma(60;6.83e-15)|Kidney(56;1.19e-08)|KIRC - Kidney renal clear cell carcinoma(57;8.98e-08)|BRCA - Breast invasive adenocarcinoma(100;1.49e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00125)|Colorectal(34;0.0199)|COAD - Colon adenocarcinoma(134;0.121) CGGAAGAGCCCCCTGAGTCTG 0.617000 46 64 0 0 0.003610 0 0 THOC2 57187 broad.mit.edu 37 X 122747910 122747910 + Missense_Mutation SNP C C T TCGA-BF-A1PV-01A-11D-A19A-08 TCGA-BF-A1PV-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0db1b3b6-b61c-4718-9cbf-65550d399bc7 792d1c6e-02b2-442b-a36e-d5a4afa5a6aa g.chrX:122747910C>T ENST00000245838.8 - 34 4473 c.4442G>A c.(4441-4443)cGg>cAg p.R1481Q THOC2_ENST00000355725.4_Missense_Mutation_p.R1481Q|THOC2_ENST00000491737.1_Missense_Mutation_p.R1366Q|THOC2_ENST00000464992.1_5'UTR NM_001081550.1 NP_001075019.1 Q8NI27 THOC2_HUMAN THO complex 2 1481 Lys-rich. intronless viral mRNA export from host nucleus|mRNA processing|RNA splicing THO complex part of transcription export complex protein binding|RNA binding breast(2)|endometrium(13)|kidney(4)|large_intestine(11)|lung(26)|ovary(3)|skin(1)|upper_aerodigestive_tract(3) 63 AACCCTTTTCCGCTCTTTCCT 0.348000 4 15 0 0 0.000602 0 0 AFM 173 broad.mit.edu 37 4 74353509 74353509 + Silent SNP G G A TCGA-BF-A1PV-01A-11D-A19A-08 TCGA-BF-A1PV-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0db1b3b6-b61c-4718-9cbf-65550d399bc7 792d1c6e-02b2-442b-a36e-d5a4afa5a6aa g.chr4:74353509G>A ENST00000226355.3 + 6 777 c.684G>A c.(682-684)ttG>ttA p.L228L NM_001133.2 NP_001124.1 P43652 AFAM_HUMAN afamin 228 Albumin 2. vitamin transport vitamin E binding breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 32 Breast(15;0.00102) Epithelial(6;5.69e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000324)|all cancers(17;0.000555)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154) GGGCACTTTTGAAATTTGGAA 0.328000 7 9 0 0 0.001984 0 0 KCNJ5 3762 broad.mit.edu 37 11 128781893 128781893 + Missense_Mutation SNP G G A TCGA-BF-A1PV-01A-11D-A19A-08 TCGA-BF-A1PV-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0db1b3b6-b61c-4718-9cbf-65550d399bc7 792d1c6e-02b2-442b-a36e-d5a4afa5a6aa g.chr11:128781893G>A ENST00000529694.1 + 2 1101 c.725G>A c.(724-726)cGg>cAg p.R242Q KCNJ5_ENST00000533599.1_Missense_Mutation_p.R242Q|KCNJ5_ENST00000338350.4_Missense_Mutation_p.R242Q NM_000890.3 NP_000881.3 P48544 IRK5_HUMAN potassium inwardly-rectifying channel, subfamily J, member 5 242 synaptic transmission voltage-gated potassium channel complex G-protein activated inward rectifier potassium channel activity|protein binding NS(1)|breast(1)|endometrium(4)|large_intestine(4)|liver(2)|lung(9)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 26 all_hematologic(175;0.0641) Lung NSC(97;0.00038)|all_lung(97;0.000817)|Breast(109;0.00123)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837) OV - Ovarian serous cystadenocarcinoma(99;0.0059)|LUSC - Lung squamous cell carcinoma(976;0.021)|Lung(977;0.0215) Glibenclamide(DB01016) ATCAAGTCCCGGCAGACCAAA 0.612000 42 66 0 0 0.002852 0 0 TNXB 7148 broad.mit.edu 37 6 32063513 32063514 + Frame_Shift_Del DEL AC AC - TCGA-BF-A1PV-01A-11D-A19A-08 TCGA-BF-A1PV-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0db1b3b6-b61c-4718-9cbf-65550d399bc7 792d1c6e-02b2-442b-a36e-d5a4afa5a6aa g.chr6:32063513_32063514delAC ENST00000375244.3 - 3 2317_2318 c.2116_2117delGT c.(2116-2118)afs p.V706fs TNXB_ENST00000479795.1_Frame_Shift_Del_p.V706fs|TNXB_ENST00000375247.2_Frame_Shift_Del_p.V706fs P22105 TENX_HUMAN tenascin XB 706 EGF-like 18. actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction extracellular space|intracellular|proteinaceous extracellular matrix heparin binding|integrin binding endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1) 8 GAAGCCCTCTACACACACACAC 0.668 7 523 --- --- --- --- POM121 9883 broad.mit.edu 37 7 72413723 72413724 + In_Frame_Ins INS - - CTC rs67569765 byFrequency TCGA-BF-A1PV-01A-11D-A19A-08 TCGA-BF-A1PV-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0db1b3b6-b61c-4718-9cbf-65550d399bc7 792d1c6e-02b2-442b-a36e-d5a4afa5a6aa g.chr7:72413723_72413724insCTC ENST00000395270.1 + 14 3437_3438 c.2396_2397insCTC c.(2395-2397)ttt>tCTCtt p.799_799F>SL POM121_ENST00000257622.4_In_Frame_Ins_p.799_799F>SL|POM121_ENST00000446813.1_In_Frame_Ins_p.799_799F>SL|POM121_ENST00000434423.2_In_Frame_Ins_p.1064_1064F>SL|POM121_ENST00000358357.3_In_Frame_Ins_p.799_799F>SL NM_001257190.1 NP_001244119.1 Q96HA1 P121A_HUMAN POM121 transmembrane nucleoporin 1064 Pore side (Potential).|Thr-rich. carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction endoplasmic reticulum membrane|nuclear membrane|nuclear pore NS(1)|breast(1)|endometrium(9)|kidney(4)|large_intestine(6)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 41 Lung NSC(55;0.163) ACTGCTGTCTTCTTCGGTGCAG 0.663 9 66 --- --- --- --- PPL 5493 broad.mit.edu 37 16 4943544 4943544 + Frame_Shift_Del DEL C C - TCGA-BF-A1PV-01A-11D-A19A-08 TCGA-BF-A1PV-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0db1b3b6-b61c-4718-9cbf-65550d399bc7 792d1c6e-02b2-442b-a36e-d5a4afa5a6aa g.chr16:4943544delC ENST00000345988.2 - 13 1579 c.1490delG c.(1489-1491)gafs p.G497fs PPL_ENST00000590782.2_Frame_Shift_Del_p.G495fs NM_002705.4 NP_002696.3 O60437 PEPL_HUMAN periplakin 497 keratinization cytoskeleton|desmosome|mitochondrion|nucleus protein binding|structural constituent of cytoskeleton breast(6)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(12)|lung(12)|ovary(4)|prostate(5)|skin(3)|stomach(1)|urinary_tract(2) 62 GCACCCACCTCCGGGATTCTC 0.687 6 13 --- --- --- --- PVRL2 5819 broad.mit.edu 37 19 45381749 45381751 + In_Frame_Del DEL GAG GAG - TCGA-BF-A1PV-01A-11D-A19A-08 TCGA-BF-A1PV-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0db1b3b6-b61c-4718-9cbf-65550d399bc7 792d1c6e-02b2-442b-a36e-d5a4afa5a6aa g.chr19:45381749_45381751delGAG ENST00000252485.4 + 6 1663_1665 c.1312_1314delGAG c.(1312-1314)del p.E445del PVRL2_ENST00000252483.5_Intron NM_002856.2 NP_002847.1 Q92692 PVRL2_HUMAN poliovirus receptor-related 2 (herpesvirus entry mediator B) 504 adherens junction organization|adhesion to symbiont|cell junction assembly|homophilic cell adhesion|positive regulation of immunoglobulin mediated immune response|positive regulation of mast cell activation|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target|susceptibility to natural killer cell mediated cytotoxicity|susceptibility to T cell mediated cytotoxicity|viral envelope fusion with host membrane|virion attachment, binding of host cell surface coreceptor cell surface|integral to membrane|zonula adherens cell adhesion molecule binding|coreceptor activity|protein homodimerization activity breast(1)|endometrium(1)|large_intestine(6)|lung(5) 13 Lung NSC(12;0.00195)|all_lung(12;0.00522) Ovarian(192;0.0728)|all_neural(266;0.112) OV - Ovarian serous cystadenocarcinoma(262;0.0143) TGGCAaggatgaggaggaggagg 0.591 13 462 --- --- --- --- ZFX 7543 broad.mit.edu 37 X 24225559 24225560 + Frame_Shift_Ins INS - - T TCGA-BF-A1PV-01A-11D-A19A-08 TCGA-BF-A1PV-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0db1b3b6-b61c-4718-9cbf-65550d399bc7 792d1c6e-02b2-442b-a36e-d5a4afa5a6aa g.chrX:24225559_24225560insT ENST00000379177.1 + 7 1190_1191 c.763_764insT c.(763-765)tttfs p.F255fs ZFX_ENST00000338565.3_Intron|ZFX_ENST00000379188.3_Frame_Shift_Ins_p.F255fs|ZFX_ENST00000304543.5_Frame_Shift_Ins_p.F255fs|ZFX_ENST00000540034.1_Frame_Shift_Ins_p.F294fs|ZFX_ENST00000459724.1_3'UTR|ZFX_ENST00000539115.1_Frame_Shift_Ins_p.F26fs NM_001178085.1|NM_003410.3 NP_001171556.1|NP_003401.2 P17010 ZFX_HUMAN zinc finger protein, X-linked 255 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|transcription coactivator activity|zinc ion binding cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(2)|lung(4)|ovary(2)|prostate(1) 24 CAAGGTGTACATTTTTAAAGCT 0.406 31 44 --- --- --- --- NKAP 79576 broad.mit.edu 37 X 119077457 119077459 + In_Frame_Del DEL GCG GCG - TCGA-BF-A1PV-01A-11D-A19A-08 TCGA-BF-A1PV-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0db1b3b6-b61c-4718-9cbf-65550d399bc7 792d1c6e-02b2-442b-a36e-d5a4afa5a6aa g.chrX:119077457_119077459delGCG ENST00000371410.3 - 1 276_278 c.110_112delCGC c.(109-114)cgg>c p.PR37del NM_024528.3 NP_078804.2 Q8N5F7 NKAP_HUMAN NFKB activating protein 37 Ser-rich. negative regulation of transcription, DNA-dependent|Notch signaling pathway|positive regulation of alpha-beta T cell differentiation|transcription, DNA-dependent cytoplasm|nucleus chromatin binding|protein binding p.R38W(1) breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|prostate(1) 20 CGGCGGCCCCGCGGGGAGCGGGC 0.685 17 28 --- --- --- --- CNGA2 1260 broad.mit.edu 37 X 150911948 150911948 + Frame_Shift_Del DEL A A - TCGA-BF-A1PV-01A-11D-A19A-08 TCGA-BF-A1PV-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0db1b3b6-b61c-4718-9cbf-65550d399bc7 792d1c6e-02b2-442b-a36e-d5a4afa5a6aa g.chrX:150911948delA ENST00000329903.4 + 6 1006 c.973delA c.(973-975)tcfs p.I325fs NM_005140.1 NP_005131.1 Q16280 CNGA2_HUMAN cyclic nucleotide gated channel alpha 2 325 response to stimulus|sensory perception of smell intracellular cyclic nucleotide activated cation channel complex cAMP binding|intracellular cAMP activated cation channel activity breast(4)|endometrium(4)|large_intestine(5)|lung(34)|prostate(2) 49 Acute lymphoblastic leukemia(192;6.56e-05) TAGGGAATACATCTATTGCCT 0.478 10 150 --- --- --- ---