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 MROH5 389690 broad.mit.edu 37 8 142446018 142446018 + RNA SNP C C T TCGA-HQ-A2OF-01A-11D-A26M-08 TCGA-HQ-A2OF-10B-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18987f5d-2351-4308-bad2-84e5cd0bf9e7 6f03f9f2-dd98-4dc0-882d-0c495fb45a4a g.chr8:142446018C>T ENST00000606664.1 + 0 1374 MROH5_ENST00000430863.1_RNA CTGACCGTGGCGACAGCTGGG 0.672000 33 24 0 0 1 0 0 NCAM2 4685 broad.mit.edu 37 21 22804561 22804561 + Silent SNP G G A TCGA-HQ-A2OF-01A-11D-A26M-08 TCGA-HQ-A2OF-10B-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18987f5d-2351-4308-bad2-84e5cd0bf9e7 6f03f9f2-dd98-4dc0-882d-0c495fb45a4a g.chr21:22804561G>A ENST00000400546.1 + 12 1863 c.1614G>A c.(1612-1614)gcG>gcA p.A538A NCAM2_ENST00000284894.7_Silent_p.A396A NM_004540.3 NP_004531.2 O15394 NCAM2_HUMAN neural cell adhesion molecule 2 538 Fibronectin type-III 1. neuron cell-cell adhesion integral to membrane|plasma membrane p.A538A(1) breast(4)|cervix(2)|endometrium(8)|kidney(6)|large_intestine(22)|liver(4)|lung(49)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 108 Lung NSC(9;0.195) all cancers(11;0.00102)|OV - Ovarian serous cystadenocarcinoma(11;0.00121)|Epithelial(23;0.00147)|Colorectal(24;0.174) AAGAAGTAGCGTCAGAAATCT 0.433000 10 5 0 0 1 0 0 TNKS1BP1 85456 broad.mit.edu 37 11 57077452 57077452 + Silent SNP C C T TCGA-HQ-A2OF-01A-11D-A26M-08 TCGA-HQ-A2OF-10B-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18987f5d-2351-4308-bad2-84e5cd0bf9e7 6f03f9f2-dd98-4dc0-882d-0c495fb45a4a g.chr11:57077452C>T ENST00000532437.1 - 5 3044 c.2733G>A c.(2731-2733)aaG>aaA p.K911K TNKS1BP1_ENST00000358252.3_Silent_p.K911K|TNKS1BP1_ENST00000530920.1_5'UTR Q9C0C2 TB182_HUMAN tankyrase 1 binding protein 1, 182kDa 911 Acidic. nuclear-transcribed mRNA poly(A) tail shortening|telomere maintenance via telomerase cytoskeleton|cytosol|nuclear telomeric heterochromatin ankyrin binding|enzyme binding breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 64 all_epithelial(135;0.21) GGTGGTCCCTCTTCCCCAAAT 0.562000 53 47 0 0 1 0 0 ARNT2 9915 broad.mit.edu 37 15 80762743 80762743 + Missense_Mutation SNP G G A TCGA-HQ-A2OF-01A-11D-A26M-08 TCGA-HQ-A2OF-10B-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18987f5d-2351-4308-bad2-84e5cd0bf9e7 6f03f9f2-dd98-4dc0-882d-0c495fb45a4a g.chr15:80762743G>A ENST00000533983.1 + 5 685 c.346G>A c.(346-348)Gcg>Acg p.A116T ARNT2_ENST00000303329.4_Missense_Mutation_p.A127T|ARNT2_ENST00000527771.1_Missense_Mutation_p.A116T|ARNT2_ENST00000531595.3_3'UTR Q9HBZ2 ARNT2_HUMAN aryl-hydrocarbon receptor nuclear translocator 2 127 Helix-loop-helix motif. central nervous system development|in utero embryonic development|response to hypoxia aryl hydrocarbon receptor binding|DNA binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|signal transducer activity NS(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(16)|ovary(1)|pancreas(2)|prostate(2)|skin(1) 35 BRCA - Breast invasive adenocarcinoma(143;0.134) CACCGATGGCGCGTACAAGCC 0.572000 11 47 0 0 1 0 0 MYBPC2 4606 broad.mit.edu 37 19 50958852 50958852 + Silent SNP C C T TCGA-HQ-A2OF-01A-11D-A26M-08 TCGA-HQ-A2OF-10B-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18987f5d-2351-4308-bad2-84e5cd0bf9e7 6f03f9f2-dd98-4dc0-882d-0c495fb45a4a g.chr19:50958852C>T ENST00000357701.5 + 20 2340 c.2289C>T c.(2287-2289)atC>atT p.I763I NM_004533.3 NP_004524.3 Q14324 MYPC2_HUMAN myosin binding protein C, fast type 763 Fibronectin type-III 2. cell adhesion|muscle filament sliding cytosol|myosin filament actin binding|structural constituent of muscle breast(1) 1 all_neural(266;0.057) OV - Ovarian serous cystadenocarcinoma(262;0.0079)|GBM - Glioblastoma multiforme(134;0.0144) CGAACAGGATCGGGGCAGGTG 0.612000 34 68 0 0 1 0 0 SYNE1 23345 broad.mit.edu 37 6 152690150 152690150 + Missense_Mutation SNP G G A rs114954026 byFrequency TCGA-HQ-A2OF-01A-11D-A26M-08 TCGA-HQ-A2OF-10B-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18987f5d-2351-4308-bad2-84e5cd0bf9e7 6f03f9f2-dd98-4dc0-882d-0c495fb45a4a g.chr6:152690150G>A ENST00000367255.5 - 61 10365 c.9764C>T c.(9763-9765)tCg>tTg p.S3255L SYNE1_ENST00000341594.5_Missense_Mutation_p.S3294L|SYNE1_ENST00000423061.1_Missense_Mutation_p.S3262L|SYNE1_ENST00000448038.1_Missense_Mutation_p.S3262L|SYNE1_ENST00000265368.4_Missense_Mutation_p.S3255L NM_182961.3 NP_892006.3 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 3255 cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex actin binding|lamin binding NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19) 524 Ovarian(120;0.0955) BRCA - Breast invasive adenocarcinoma(37;0.243) OV - Ovarian serous cystadenocarcinoma(155;2.24e-10) AGACAGCTGCGACACTCTGTG 0.493000 HNSCC(10;0.0054) 12 27 0 0 1 0 0 HUWE1 10075 broad.mit.edu 37 X 53565383 53565383 + Missense_Mutation SNP G G A TCGA-HQ-A2OF-01A-11D-A26M-08 TCGA-HQ-A2OF-10B-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18987f5d-2351-4308-bad2-84e5cd0bf9e7 6f03f9f2-dd98-4dc0-882d-0c495fb45a4a g.chrX:53565383G>A ENST00000342160.3 - 76 12368 c.11911C>T c.(11911-11913)Cgg>Tgg p.R3971W HUWE1_ENST00000262854.6_Missense_Mutation_p.R3971W Q7Z6Z7 HUWE1_HUMAN HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase 3971 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 GTGGACTGCCGTAGGATCTGG 0.517000 6 9 0 0 1 0 0 PMAIP1 5366 broad.mit.edu 37 18 57569953 57569953 + Missense_Mutation SNP C C T TCGA-HQ-A2OF-01A-11D-A26M-08 TCGA-HQ-A2OF-10B-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18987f5d-2351-4308-bad2-84e5cd0bf9e7 6f03f9f2-dd98-4dc0-882d-0c495fb45a4a g.chr18:57569953C>T ENST00000269518.9 + 3 446 c.284C>T c.(283-285)tCt>tTt p.S95F PMAIP1_ENST00000316660.6_Silent_p.L45L Q13794 APR_HUMAN phorbol-12-myristate-13-acetate-induced protein 1 0 activation of caspase activity|activation of pro-apoptotic gene products|cellular component disassembly involved in apoptosis|cellular response to glucose starvation|cellular response to hypoxia|negative regulation of mitochondrial membrane potential|positive regulation of DNA damage response, signal transduction by p53 class mediator|positive regulation of glucose metabolic process|positive regulation of protein oligomerization|positive regulation of release of cytochrome c from mitochondria|proteasomal protein catabolic process|reactive oxygen species metabolic process|regulation of mitochondrial membrane permeability|response to dsRNA|signal transduction by p53 class mediator resulting in induction of apoptosis|T cell homeostasis|virus-infected cell apoptosis cytosol|mitochondrial outer membrane|nucleus protein binding breast(1) 1 Colorectal(73;0.0946) ACTTCTGAATCTGATATCCAA 0.448000 10 3 0 0 1 0 0 SELP 6403 broad.mit.edu 37 1 169565212 169565212 + Silent SNP G G T TCGA-HQ-A2OF-01A-11D-A26M-08 TCGA-HQ-A2OF-10B-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18987f5d-2351-4308-bad2-84e5cd0bf9e7 6f03f9f2-dd98-4dc0-882d-0c495fb45a4a g.chr1:169565212G>T ENST00000263686.6 - 12 2089 c.2052C>A c.(2050-2052)ctC>ctA p.L684L SELP_ENST00000367792.2_Silent_p.L500L|SELP_ENST00000458599.2_Silent_p.L500L|SELP_ENST00000367791.2_Silent_p.L498L|SELP_ENST00000367794.2_Silent_p.L622L|SELP_ENST00000367788.2_Silent_p.L622L|SELP_ENST00000367786.2_Silent_p.L622L|SELP_ENST00000367793.2_Silent_p.L622L NM_003005.3 NP_002996.2 P16109 LYAM3_HUMAN selectin P (granule membrane protein 140kDa, antigen CD62) 684 Sushi 8. platelet activation|platelet degranulation|positive regulation of platelet activation external side of plasma membrane|extracellular space|integral to plasma membrane|membrane fraction|platelet alpha granule membrane|platelet dense granule membrane|soluble fraction fucose binding|glycosphingolipid binding|heparin binding|lipopolysaccharide binding|oligosaccharide binding|sialic acid binding breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(32)|ovary(4)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 60 all_hematologic(923;0.208) Clopidogrel(DB00758)|Heparin(DB01109)|Tirofiban(DB00775) GTCTGCAGCTGAGAGTGCTGT 0.493000 100 359 9.53958e-58 1.0593e-57 1 1 0 PGR 5241 broad.mit.edu 37 11 100998779 100998779 + Silent SNP C C T TCGA-HQ-A2OF-01A-11D-A26M-08 TCGA-HQ-A2OF-10B-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18987f5d-2351-4308-bad2-84e5cd0bf9e7 6f03f9f2-dd98-4dc0-882d-0c495fb45a4a g.chr11:100998779C>T ENST00000325455.5 - 1 2476 c.1023G>A c.(1021-1023)ccG>ccA p.P341P PGR_ENST00000534013.1_Intron|PGR_ENST00000263463.5_Silent_p.P341P NM_000926.4|NM_001202474.1|NM_001271162.1 NP_000917.3|NP_001189403.1|NP_001258091.1 P06401 PRGR_HUMAN progesterone receptor 341 Modulating, Pro-Rich. cell-cell signaling|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor cytoplasm|nucleoplasm enzyme binding|receptor binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|liver(1)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1) 36 Acute lymphoblastic leukemia(157;0.000885)|all_hematologic(158;0.014) LUSC - Lung squamous cell carcinoma(1;0.0387)|BRCA - Breast invasive adenocarcinoma(274;0.124)|OV - Ovarian serous cystadenocarcinoma(223;0.148)|Lung(307;0.164) Desogestrel(DB00304)|Drospirenone(DB01395)|Dydrogesterone(DB00378)|Ethynodiol Diacetate(DB00823)|Etonogestrel(DB00294)|Levonorgestrel(DB00367)|Medroxyprogesterone(DB00603)|Megestrol(DB00351)|Mifepristone(DB00834)|Norethindrone(DB00717)|Norgestimate(DB00957)|Norgestrel(DB00506)|Progesterone(DB00396) AACTCCGCGGCGGGGCAAAGG 0.692000 17 18 0 0 1 0 0 CROCC 9696 broad.mit.edu 37 1 17257073 17257073 + Nonsense_Mutation SNP G G A TCGA-HQ-A2OF-01A-11D-A26M-08 TCGA-HQ-A2OF-10B-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18987f5d-2351-4308-bad2-84e5cd0bf9e7 6f03f9f2-dd98-4dc0-882d-0c495fb45a4a g.chr1:17257073G>A ENST00000375541.5 + 7 902 c.833G>A c.(832-834)tGg>tAg p.W278* CROCC_ENST00000467938.1_3'UTR NM_014675.3 NP_055490.3 Q5TZA2 CROCC_HUMAN ciliary rootlet coiled-coil, rootletin 278 cell cycle|cell projection organization|centrosome organization|protein localization actin cytoskeleton|centriole|ciliary rootlet|plasma membrane kinesin binding|structural molecule activity breast(3)|central_nervous_system(2)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(1)|lung(20)|ovary(3)|prostate(9)|skin(3)|urinary_tract(1) 62 Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000174)|all_lung(284;0.000234)|Renal(390;0.000518)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.63e-06)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181) GAGGCGGCGTGGAGGCGCGAG 0.662000 4 23 0 0 1 0 0 NBPF1 55672 broad.mit.edu 37 1 16918653 16918653 + Splice_Site SNP C C T TCGA-HQ-A2OF-01A-11D-A26M-08 TCGA-HQ-A2OF-10B-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18987f5d-2351-4308-bad2-84e5cd0bf9e7 6f03f9f2-dd98-4dc0-882d-0c495fb45a4a g.chr1:16918653C>T ENST00000430580.2 - 6 853 c.e6+1 NM_017940.3 NP_060410.2 Q3BBV0 NBPF1_HUMAN neuroblastoma breakpoint family, member 1 cytoplasm UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179) TCTTAACTTACTGTTGTGAAA 0.418000 3 18 0 0 1 0 0 KIAA2013 90231 broad.mit.edu 37 1 11982665 11982665 + Nonsense_Mutation SNP G G A TCGA-HQ-A2OF-01A-11D-A26M-08 TCGA-HQ-A2OF-10B-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18987f5d-2351-4308-bad2-84e5cd0bf9e7 6f03f9f2-dd98-4dc0-882d-0c495fb45a4a g.chr1:11982665G>A ENST00000376576.3 - 2 2105 c.1915C>T c.(1915-1917)Cga>Tga p.R639* KIAA2013_ENST00000376572.3_Intron Q8IYS2 K2013_HUMAN KIAA2013 0 integral to membrane endometrium(1)|lung(3)|ovary(1)|prostate(1)|skin(1) 7 Ovarian(185;0.249) Renal(390;0.000469)|Lung NSC(185;0.00149)|all_lung(284;0.00189)|Breast(348;0.00586)|Colorectal(325;0.0062)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0556)|Ovarian(437;0.0731) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;4.88e-06)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|Kidney(185;0.000722)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649) CCAAGGCCTCGGGTTTCGACC 0.622000 4 7 0 0 1 0 0 SRCAP 10847 broad.mit.edu 37 16 30722892 30722892 + Splice_Site SNP G G C TCGA-HQ-A2OF-01A-11D-A26M-08 TCGA-HQ-A2OF-10B-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18987f5d-2351-4308-bad2-84e5cd0bf9e7 6f03f9f2-dd98-4dc0-882d-0c495fb45a4a g.chr16:30722892G>C ENST00000262518.4 + 11 1704 c.1319G>C c.(1318-1320)gGt>gCt p.G440A SRCAP_ENST00000344771.4_Splice_Site_p.G440A|SRCAP_ENST00000395059.2_Splice_Site_p.G440A NM_006662.2 NP_006653.2 Q6ZRS2 SRCAP_HUMAN Snf2-related CREBBP activator protein 440 Glu-rich. interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent Golgi apparatus|nucleus|protein complex ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5) 136 Colorectal(24;0.198) TCTCTTCCAGGTGAGCTTTCC 0.488000 13 48 0 0 1 0 0 EGR1 1958 broad.mit.edu 37 5 137803118 137803118 + Missense_Mutation SNP G G A TCGA-HQ-A2OF-01A-11D-A26M-08 TCGA-HQ-A2OF-10B-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18987f5d-2351-4308-bad2-84e5cd0bf9e7 6f03f9f2-dd98-4dc0-882d-0c495fb45a4a g.chr5:137803118G>A ENST00000239938.4 + 2 1252 c.980G>A c.(979-981)cGg>cAg p.R327Q NM_001964.2 NP_001955.1 P18146 EGR1_HUMAN early growth response 1 327 cellular response to heparin|cellular response to mycophenolic acid|glomerular mesangial cell proliferation|interleukin-1-mediated signaling pathway|positive regulation of glomerular metanephric mesangial cell proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of protein sumoylation|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway cytoplasm|nucleus histone acetyltransferase binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|ovary(1) 6 KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592) TACCCCAACCGGCCCAGCAAG 0.652000 48 72 0 0 1 0 0 RHBG 57127 broad.mit.edu 37 1 156352013 156352013 + Missense_Mutation SNP T T C rs752641 by1000genomes TCGA-HQ-A2OF-01A-11D-A26M-08 TCGA-HQ-A2OF-10B-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18987f5d-2351-4308-bad2-84e5cd0bf9e7 6f03f9f2-dd98-4dc0-882d-0c495fb45a4a g.chr1:156352013T>C ENST00000537040.1 + 4 669 c.631T>C c.(631-633)Tac>Cac p.Y211H RHBG_ENST00000400992.2_Intron|RHBG_ENST00000368246.2_Intron|RHBG_ENST00000255013.3_Intron|RHBG_ENST00000451864.2_Intron|RHBG_ENST00000494874.1_Intron|RHBG_ENST00000368249.1_Intron Q9H310 RHBG_HUMAN Rh family, B glycoprotein (gene/pseudogene) 0 transepithelial ammonium transport anchored to plasma membrane|basolateral plasma membrane|cytoplasmic vesicle membrane|integral to plasma membrane|spectrin-associated cytoskeleton ammonia transmembrane transporter activity|ammonium transmembrane transporter activity|ankyrin binding endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(3)|skin(2)|stomach(1)|urinary_tract(1) 22 Hepatocellular(266;0.158) TCCCAACCCGTACTGCAGTCG 0.522000 5 69 0 0 1 0 0 ARID3C 138715 broad.mit.edu 37 9 34623555 34623555 + Silent SNP G G A TCGA-HQ-A2OF-01A-11D-A26M-08 TCGA-HQ-A2OF-10B-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18987f5d-2351-4308-bad2-84e5cd0bf9e7 6f03f9f2-dd98-4dc0-882d-0c495fb45a4a g.chr9:34623555G>A ENST00000378909.2 - 4 824 c.732C>T c.(730-732)ggC>ggT p.G244G NM_001017363.1 NP_001017363.1 A6NKF2 ARI3C_HUMAN AT rich interactive domain 3C (BRIGHT-like) 244 Pro-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1) 14 all_epithelial(49;0.102) STAD - Stomach adenocarcinoma(86;0.178) GBM - Glioblastoma multiforme(74;0.175) GGTCCTGAGCGCCCCGAGGGG 0.736000 11 10 0 0 1 0 0 EPHA6 285220 broad.mit.edu 37 3 97167542 97167542 + Missense_Mutation SNP G G A TCGA-HQ-A2OF-01A-11D-A26M-08 TCGA-HQ-A2OF-10B-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18987f5d-2351-4308-bad2-84e5cd0bf9e7 6f03f9f2-dd98-4dc0-882d-0c495fb45a4a g.chr3:97167542G>A ENST00000389672.5 + 7 1900 c.1862G>A c.(1861-1863)aGt>aAt p.S621N EPHA6_ENST00000502694.1_5'UTR|EPHA6_ENST00000442602.2_5'UTR|EPHA6_ENST00000514100.1_5'UTR NM_001080448.2 NP_001073917.2 Q9UF33 EPHA6_HUMAN EPH receptor A6 526 integral to plasma membrane ATP binding|ephrin receptor activity NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2) 101 AGTGGCTACAGTCAGAAATTT 0.388000 24 24 0 0 1 0 0 HSD17B2 3294 broad.mit.edu 37 16 82101832 82101832 + Missense_Mutation SNP C C T rs140926616 byFrequency TCGA-HQ-A2OF-01A-11D-A26M-08 TCGA-HQ-A2OF-10B-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18987f5d-2351-4308-bad2-84e5cd0bf9e7 6f03f9f2-dd98-4dc0-882d-0c495fb45a4a g.chr16:82101832C>T ENST00000199936.4 + 2 516 c.323C>T c.(322-324)aCg>aTg p.T108M RP11-510J16.5_ENST00000567021.1_RNA NM_002153.2 NP_002144.1 P37059 DHB2_HUMAN hydroxysteroid (17-beta) dehydrogenase 2 108 response to retinoic acid|steroid biosynthetic process endoplasmic reticulum membrane|integral to membrane 17-alpha,20-alpha-dihydroxypregn-4-en-3-one dehydrogenase activity|binding|estradiol 17-beta-dehydrogenase activity|testosterone 17-beta-dehydrogenase (NAD+) activity breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(1)|ovary(1)|upper_aerodigestive_tract(1) 10 NADH(DB00157) CTGGGCTTCACGGTATTTGCC 0.542000 21 44 0 0 1 0 0 DRD1 1812 broad.mit.edu 37 5 174869071 174869071 + Silent SNP G G C TCGA-HQ-A2OF-01A-11D-A26M-08 TCGA-HQ-A2OF-10B-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18987f5d-2351-4308-bad2-84e5cd0bf9e7 6f03f9f2-dd98-4dc0-882d-0c495fb45a4a g.chr5:174869071G>C ENST00000393752.2 - 2 2024 c.1032C>G c.(1030-1032)ctC>ctG p.L344L NM_000794.3 NP_000785.1 P21728 DRD1_HUMAN dopamine receptor D1 344 activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|adult walking behavior|cerebral cortex GABAergic interneuron migration|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|mating behavior|positive regulation of cAMP biosynthetic process|positive regulation of cell migration|positive regulation of potassium ion transport|positive regulation of release of sequestered calcium ion into cytosol|positive regulation of synaptic transmission, glutamatergic|prepulse inhibition|response to drug|synapse assembly|visual learning endoplasmic reticulum membrane|membrane fraction protein binding endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 23 all_cancers(89;0.00895)|Renal(175;0.000159)|Lung NSC(126;0.00625)|all_lung(126;0.0104) Medulloblastoma(196;0.0208)|all_neural(177;0.0277)|all_hematologic(541;0.214) Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183) Acetophenazine(DB01063)|Amantadine(DB00915)|Apomorphine(DB00714)|Carphenazine(DB01038)|Chlorprothixene(DB01239)|Clozapine(DB00363)|Cocaine(DB00907)|Dopamine(DB00988)|Fenoldopam(DB00800)|Flupenthixol(DB00875)|Fluphenazine(DB00623)|Haloperidol(DB00502)|Levodopa(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Methylergonovine(DB00353)|Minaprine(DB00805)|Olanzapine(DB00334)|Pegademase bovine(DB00061)|Pergolide(DB01186)|Perphenazine(DB00850)|Prochlorperazine(DB00433)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Triflupromazine(DB00508)|Zuclopenthixol(DB01624) AGCATCCTAAGAGGGTTGAAA 0.463000 26 27 0 0 1 0 0 LDOC1 23641 broad.mit.edu 37 X 140271101 140271101 + Missense_Mutation SNP C C T TCGA-HQ-A2OF-01A-11D-A26M-08 TCGA-HQ-A2OF-10B-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18987f5d-2351-4308-bad2-84e5cd0bf9e7 6f03f9f2-dd98-4dc0-882d-0c495fb45a4a g.chrX:140271101C>T ENST00000370526.2 - 1 209 c.106G>A c.(106-108)Gag>Aag p.E36K LDOC1_ENST00000460721.1_5'UTR NM_012317.2 NP_036449.1 O95751 LDOC1_HUMAN leucine zipper, down-regulated in cancer 1 36 negative regulation of cell proliferation nucleus protein binding endometrium(6)|large_intestine(1)|lung(6)|ovary(1) 14 Acute lymphoblastic leukemia(192;7.65e-05) CTGGCCCTCTCGCACACCAGC 0.657000 7 13 0 0 1 0 0 WIPF1 7456 broad.mit.edu 37 2 175436742 175436742 + Missense_Mutation SNP G G T TCGA-HQ-A2OF-01A-11D-A26M-08 TCGA-HQ-A2OF-10B-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18987f5d-2351-4308-bad2-84e5cd0bf9e7 6f03f9f2-dd98-4dc0-882d-0c495fb45a4a g.chr2:175436742G>T ENST00000392547.2 - 5 890 c.791C>A c.(790-792)cCc>cAc p.P264H WIPF1_ENST00000359761.3_Missense_Mutation_p.P264H|AC018890.6_ENST00000412835.1_RNA|WIPF1_ENST00000392546.2_Missense_Mutation_p.P264H|WIPF1_ENST00000409891.1_Missense_Mutation_p.P264H|WIPF1_ENST00000272746.5_Missense_Mutation_p.P264H|AC018890.6_ENST00000442996.1_RNA|WIPF1_ENST00000409415.3_Missense_Mutation_p.P264H NM_003387.4 NP_003378.3 O43516 WIPF1_HUMAN WAS/WASL interacting protein family, member 1 264 Pro-rich. actin polymerization or depolymerization|protein complex assembly cytoplasmic membrane-bounded vesicle actin binding|profilin binding NS(1)|breast(1)|endometrium(5)|large_intestine(7)|lung(15)|ovary(2)|skin(1) 32 TGGTGGAGGGGGTTTGTCATC 0.642000 6 20 0.0293803 0.0298755 1 1 0 FCN2 2220 broad.mit.edu 37 9 137777212 137777212 + Splice_Site SNP C C T TCGA-HQ-A2OF-01A-11D-A26M-08 TCGA-HQ-A2OF-10B-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18987f5d-2351-4308-bad2-84e5cd0bf9e7 6f03f9f2-dd98-4dc0-882d-0c495fb45a4a g.chr9:137777212C>T ENST00000350339.2 + 4 329 c.315C>T c.(313-315)acC>acT p.T105T FCN2_ENST00000291744.6_Splice_Site_p.T143T NM_015837.2 NP_056652.1 Q15485 FCN2_HUMAN ficolin (collagen/fibrinogen domain containing lectin) 2 143 Fibrinogen C-terminal. complement activation, lectin pathway|opsonization|signal transduction collagen|extracellular space antigen binding|calcium ion binding|calcium-dependent protein binding|receptor binding|sugar binding breast(2)|central_nervous_system(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|urinary_tract(2) 20 Myeloproliferative disorder(178;0.0333) OV - Ovarian serous cystadenocarcinoma(145;3.58e-08)|Epithelial(140;6.41e-08)|all cancers(34;3.96e-07) GGGGCTGGACCGTGAGTGTGG 0.652000 9 13 0 0 1 0 0 JPH1 56704 broad.mit.edu 37 8 75227224 75227224 + Silent SNP G G T TCGA-HQ-A2OF-01A-11D-A26M-08 TCGA-HQ-A2OF-10B-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18987f5d-2351-4308-bad2-84e5cd0bf9e7 6f03f9f2-dd98-4dc0-882d-0c495fb45a4a g.chr8:75227224G>T ENST00000342232.4 - 2 1051 c.1011C>A c.(1009-1011)gtC>gtA p.V337V NM_020647.2 NP_065698.1 Q9HDC5 JPH1_HUMAN junctophilin 1 337 calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity integral to membrane|junctional membrane complex|junctional sarcoplasmic reticulum membrane|plasma membrane endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|skin(1)|upper_aerodigestive_tract(2) 24 Breast(64;0.00576) BRCA - Breast invasive adenocarcinoma(89;0.0499)|Epithelial(68;0.0728)|all cancers(69;0.176) TTATCCCACGGACCAGAATAT 0.468000 19 129 5.03518e-11 5.36099e-11 1 1 0 TAF1L 138474 broad.mit.edu 37 9 32633059 32633059 + Missense_Mutation SNP C C T TCGA-HQ-A2OF-01A-11D-A26M-08 TCGA-HQ-A2OF-10B-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18987f5d-2351-4308-bad2-84e5cd0bf9e7 6f03f9f2-dd98-4dc0-882d-0c495fb45a4a g.chr9:32633059C>T ENST00000242310.4 - 1 2608 c.2519G>A c.(2518-2520)cGg>cAg p.R840Q NM_153809.2 NP_722516.1 Q8IZX4 TAF1L_HUMAN TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like 840 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) CCTCCGTGGCCGATCTTTACT 0.448000 6 51 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179655493 179655493 + Missense_Mutation SNP G G A TCGA-HQ-A2OF-01A-11D-A26M-08 TCGA-HQ-A2OF-10B-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18987f5d-2351-4308-bad2-84e5cd0bf9e7 6f03f9f2-dd98-4dc0-882d-0c495fb45a4a g.chr2:179655493G>A ENST00000589042.1 - 11 1966 c.1742C>T c.(1741-1743)cCg>cTg p.P581L TTN_ENST00000591111.1_Missense_Mutation_p.P581L|TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000360870.5_Missense_Mutation_p.P581L|TTN_ENST00000342992.6_Missense_Mutation_p.P581L NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 581 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) TTGAGCTCCCGGGACTGTTTC 0.413000 20 64 0 0 1 0 0 HAUS7 55559 broad.mit.edu 37 X 152734665 152734665 + Nonsense_Mutation SNP G G A TCGA-HQ-A2OF-01A-11D-A26M-08 TCGA-HQ-A2OF-10B-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18987f5d-2351-4308-bad2-84e5cd0bf9e7 6f03f9f2-dd98-4dc0-882d-0c495fb45a4a g.chrX:152734665G>A ENST00000370210.1 - 3 893 c.163C>T c.(163-165)Cag>Tag p.Q55* TREX2_ENST00000370232.1_5'UTR|HAUS7_ENST00000370212.3_Nonsense_Mutation_p.Q65*|HAUS7_ENST00000370211.4_Nonsense_Mutation_p.Q65*|TREX2_ENST00000338525.2_5'UTR|TREX2_ENST00000330912.2_5'UTR|HAUS7_ENST00000421080.2_5'UTR|TREX2_ENST00000334497.2_5'UTR Q99871 HAUS7_HUMAN HAUS augmin-like complex, subunit 7 65 cell division|centrosome organization|mitosis|spindle assembly centrosome|HAUS complex|microtubule|nucleolus|plasma membrane|spindle thioesterase binding endometrium(1)|kidney(3)|large_intestine(1)|lung(10)|prostate(1)|skin(3) 19 AGCAGTTCCTGAATTGTCTTT 0.502000 44 37 0 0 1 0 0 VCAN 1462 broad.mit.edu 37 5 82835880 82835880 + Missense_Mutation SNP C C T TCGA-HQ-A2OF-01A-11D-A26M-08 TCGA-HQ-A2OF-10B-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18987f5d-2351-4308-bad2-84e5cd0bf9e7 6f03f9f2-dd98-4dc0-882d-0c495fb45a4a g.chr5:82835880C>T ENST00000265077.3 + 8 7623 c.7058C>T c.(7057-7059)aCg>aTg p.T2353M VCAN_ENST00000513016.1_3'UTR|VCAN_ENST00000342785.4_Intron|VCAN_ENST00000512590.2_Intron|VCAN_ENST00000343200.5_Missense_Mutation_p.T1366M|VCAN_ENST00000502527.2_Intron|VCAN-AS1_ENST00000512090.1_RNA NM_004385.4 NP_004376.2 P13611 CSPG2_HUMAN versican 2353 GAG-beta. cell adhesion|cell recognition|glial cell migration extracellular space|proteinaceous extracellular matrix calcium ion binding|hyaluronic acid binding|sugar binding NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5) 190 Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142) OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29) CCTTTCTCCACGGACATCGGA 0.448000 12 14 0 0 1 0 0 MSH2 4436 broad.mit.edu 37 2 47639699 47639699 + Splice_Site SNP G G T TCGA-HQ-A2OF-01A-11D-A26M-08 TCGA-HQ-A2OF-10B-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18987f5d-2351-4308-bad2-84e5cd0bf9e7 6f03f9f2-dd98-4dc0-882d-0c495fb45a4a g.chr2:47639699G>T ENST00000406134.1 + 4 854 c.792G>T c.(790-792)caG>caT p.Q264H MSH2_ENST00000543555.1_Splice_Site_p.Q198H|MSH2_ENST00000233146.2_Splice_Site_p.Q264H P43246 MSH2_HUMAN mutS homolog 2 264 B cell differentiation|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|double-strand break repair|intra-S DNA damage checkpoint|isotype switching|maintenance of DNA repeat elements|male gonad development|meiotic gene conversion|meiotic mismatch repair|negative regulation of neuron apoptosis|negative regulation of reciprocal meiotic recombination|positive regulation of helicase activity|postreplication repair|response to UV-B|response to X-ray|somatic hypermutation of immunoglobulin genes MutSalpha complex|MutSbeta complex|nuclear chromosome ATP binding|DNA-dependent ATPase activity|double-strand/single-strand DNA junction binding|guanine/thymine mispair binding|loop DNA binding|protein C-terminus binding|protein homodimerization activity|protein kinase binding|Y-form DNA binding p.0?(2)|p.?(1) NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(5)|large_intestine(50)|lung(18)|ovary(5)|prostate(2)|skin(3)|small_intestine(1)|stomach(2)|urinary_tract(1) 112 all_hematologic(82;0.0359)|Acute lymphoblastic leukemia(82;0.175) Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151) TGGAGAATCAGGTACATGGAT 0.299000 """D, Mis, N, F, S""" """colorectal, endometrial, ovarian""" """colorectal, endometrial, ovarian""" Mismatch excision repair (MMR) Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome 6 9 5.9392e-07 6.17813e-07 1 1 0 LAMA5 3911 broad.mit.edu 37 20 60902720 60902720 + Silent SNP G G A rs146887751 TCGA-HQ-A2OF-01A-11D-A26M-08 TCGA-HQ-A2OF-10B-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18987f5d-2351-4308-bad2-84e5cd0bf9e7 6f03f9f2-dd98-4dc0-882d-0c495fb45a4a g.chr20:60902720G>A ENST00000252999.3 - 37 4869 c.4803C>T c.(4801-4803)aaC>aaT p.N1601N NM_005560.3 NP_005551.3 O15230 LAMA5_HUMAN laminin, alpha 5 1601 Laminin EGF-like 15. angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex integrin binding breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 81 Breast(26;1.57e-08) BRCA - Breast invasive adenocarcinoma(19;4.36e-06) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) GGCCCTGCACGTTCTCCTAGG 0.617000 17 55 0 0 1 0 0 TDGF1P3 6998 broad.mit.edu 37 X 109764560 109764560 + RNA SNP T T C rs112201345 by1000genomes TCGA-HQ-A2OF-01A-11D-A26M-08 TCGA-HQ-A2OF-10B-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18987f5d-2351-4308-bad2-84e5cd0bf9e7 6f03f9f2-dd98-4dc0-882d-0c495fb45a4a g.chrX:109764560T>C ENST00000602699.1 + 0 1021 NR_002718.2 CAGCGTGTGCTGCCCATGGGA 0.577000 5 40 0 0 1 0 0 CTPS1 1503 broad.mit.edu 37 1 41466748 41466748 + Silent SNP C C T TCGA-HQ-A2OF-01A-11D-A26M-08 TCGA-HQ-A2OF-10B-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18987f5d-2351-4308-bad2-84e5cd0bf9e7 6f03f9f2-dd98-4dc0-882d-0c495fb45a4a g.chr1:41466748C>T ENST00000372621.4 + 10 1561 c.1053C>T c.(1051-1053)ccC>ccT p.P351P CTPS1_ENST00000372616.1_Silent_p.P351P|CTPS1_ENST00000541520.1_Silent_p.P120P NM_001905.2 NP_001896.2 P17812 PYRG1_HUMAN CTP synthase 1 351 Glutamine amidotransferase type-1. CTP biosynthetic process|glutamine metabolic process|nucleobase, nucleoside and nucleotide interconversion|response to drug cytosol ATP binding|CTP synthase activity|protein binding endometrium(3)|lung(10) 13 L-Glutamine(DB00130) AAGAAGAGCCCGTGCGCTACC 0.507000 8 22 0 0 1 0 0 TRPM8 79054 broad.mit.edu 37 2 234878451 234878451 + Splice_Site SNP G G A TCGA-HQ-A2OF-01A-11D-A26M-08 TCGA-HQ-A2OF-10B-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18987f5d-2351-4308-bad2-84e5cd0bf9e7 6f03f9f2-dd98-4dc0-882d-0c495fb45a4a g.chr2:234878451G>A ENST00000324695.4 + 16 2178 c.2138G>A c.(2137-2139)aGg>aAg p.R713K TRPM8_ENST00000433712.2_Intron NM_024080.4 NP_076985.4 Q7Z2W7 TRPM8_HUMAN transient receptor potential cation channel, subfamily M, member 8 713 integral to membrane breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(2)|lung(27)|prostate(2)|skin(7)|stomach(2) 66 Breast(86;0.00205)|Renal(207;0.00694)|all_lung(227;0.0129)|Lung NSC(271;0.0408)|all_hematologic(139;0.0753)|Acute lymphoblastic leukemia(138;0.224) Epithelial(121;1.19e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000139)|Lung(119;0.00758)|LUSC - Lung squamous cell carcinoma(224;0.0108) Menthol(DB00825) GTATCATTTAGGTACAAACCA 0.428000 33 37 0 0 1 0 0 DPP8 54878 broad.mit.edu 37 15 65772705 65772705 + Missense_Mutation SNP G G A TCGA-HQ-A2OF-01A-11D-A26M-08 TCGA-HQ-A2OF-10B-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18987f5d-2351-4308-bad2-84e5cd0bf9e7 6f03f9f2-dd98-4dc0-882d-0c495fb45a4a g.chr15:65772705G>A ENST00000341861.5 - 10 2779 c.1199C>T c.(1198-1200)aCt>aTt p.T400I DPP8_ENST00000321118.7_Missense_Mutation_p.T400I|DPP8_ENST00000559233.1_Missense_Mutation_p.T400I|DPP8_ENST00000321147.6_Missense_Mutation_p.T400I|DPP8_ENST00000300141.6_Missense_Mutation_p.T384I|DPP8_ENST00000358939.4_Missense_Mutation_p.T384I|DPP8_ENST00000339244.5_Intron NM_197960.2 NP_932064.1 Q6V1X1 DPP8_HUMAN dipeptidyl-peptidase 8 400 immune response|proteolysis cytoplasm|membrane|nucleus aminopeptidase activity|dipeptidyl-peptidase activity|serine-type peptidase activity NS(1)|breast(2)|endometrium(3)|large_intestine(11)|lung(11)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 CTGTAGGCGAGTCTGGGAGCG 0.383000 12 8 0 0 1 0 0 WFDC13 164237 broad.mit.edu 37 20 44333210 44333210 + Silent SNP A A G TCGA-HQ-A2OF-01A-11D-A26M-08 TCGA-HQ-A2OF-10B-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18987f5d-2351-4308-bad2-84e5cd0bf9e7 6f03f9f2-dd98-4dc0-882d-0c495fb45a4a g.chr20:44333210A>G ENST00000305479.2 + 2 324 c.216A>G c.(214-216)tcA>tcG p.S72S WFDC10B_ENST00000330523.5_Intron|WFDC10B_ENST00000335769.2_Intron NM_172005.1 NP_742002.1 Q8IUB5 WFD13_HUMAN WAP four-disulfide core domain 13 72 extracellular region peptidase inhibitor activity skin(1)|upper_aerodigestive_tract(1) 2 Myeloproliferative disorder(115;0.0122) TCTGTTCATCAGAAACATTTC 0.468000 28 83 0 0 1 0 0 RAP1GDS1 5910 broad.mit.edu 37 4 99339844 99339844 + Missense_Mutation SNP T T G TCGA-HQ-A2OF-01A-11D-A26M-08 TCGA-HQ-A2OF-10B-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18987f5d-2351-4308-bad2-84e5cd0bf9e7 6f03f9f2-dd98-4dc0-882d-0c495fb45a4a g.chr4:99339844T>G ENST00000408927.3 + 10 1189 c.1076T>G c.(1075-1077)gTa>gGa p.V359G RAP1GDS1_ENST00000380158.4_Missense_Mutation_p.V311G|RAP1GDS1_ENST00000453712.2_Missense_Mutation_p.V360G|RAP1GDS1_ENST00000264572.7_Missense_Mutation_p.V268G|RAP1GDS1_ENST00000408900.3_Missense_Mutation_p.V310G|RAP1GDS1_ENST00000339360.5_Missense_Mutation_p.V360G NM_001100426.1|NM_001100427.1|NM_021159.4 NP_001093896.1|NP_001093897.1|NP_066982.3 P52306 GDS1_HUMAN RAP1, GTP-GDP dissociation stimulator 1 359 binding|GTPase activator activity breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(14)|ovary(1) 28 OV - Ovarian serous cystadenocarcinoma(123;2.9e-07)|LUSC - Lung squamous cell carcinoma(1;0.0253)|Lung(1;0.0576) AATGGGATTGTAGAAAAACTT 0.338000 T NUP98 T-ALL 7 15 0 0 1 0 0 SLC6A9 6536 broad.mit.edu 37 1 44466610 44466610 + Missense_Mutation SNP G G A rs76038188 by1000genomes TCGA-HQ-A2OF-01A-11D-A26M-08 TCGA-HQ-A2OF-10B-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18987f5d-2351-4308-bad2-84e5cd0bf9e7 6f03f9f2-dd98-4dc0-882d-0c495fb45a4a g.chr1:44466610G>A ENST00000372306.3 - 11 1592 c.1453C>T c.(1453-1455)Cgg>Tgg p.R485W SLC6A9_ENST00000372307.3_Intron|SLC6A9_ENST00000357730.2_Intron|SLC6A9_ENST00000360584.2_Intron|SLC6A9_ENST00000537678.1_Intron|SLC6A9_ENST00000372310.3_Intron|SLC6A9_ENST00000475075.2_Intron P48067 SC6A9_HUMAN solute carrier family 6 (neurotransmitter transporter, glycine), member 9 643 integral to plasma membrane|membrane fraction glycine:sodium symporter activity|neurotransmitter:sodium symporter activity endometrium(3)|large_intestine(8)|lung(7)|ovary(1)|skin(1)|urinary_tract(2) 22 Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0511) Glycine(DB00145) GCGGGAGGCCGGAGGCTCGAG 0.622000 5 34 0 0 1 0 0 POM121L9P 29774 broad.mit.edu 37 22 24659734 24659734 + RNA SNP T T C TCGA-HQ-A2OF-01A-11D-A26M-08 TCGA-HQ-A2OF-10B-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18987f5d-2351-4308-bad2-84e5cd0bf9e7 6f03f9f2-dd98-4dc0-882d-0c495fb45a4a g.chr22:24659734T>C ENST00000414583.2 + 0 3259 NR_003714.1 CTCTCTCCTGTGGGAGGGGGG 0.632000 7 17 0 0 1 0 0 EVPL 2125 broad.mit.edu 37 17 74003665 74003665 + Missense_Mutation SNP C C T TCGA-HQ-A2OF-01A-11D-A26M-08 TCGA-HQ-A2OF-10B-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18987f5d-2351-4308-bad2-84e5cd0bf9e7 6f03f9f2-dd98-4dc0-882d-0c495fb45a4a g.chr17:74003665C>T ENST00000301607.3 - 22 5874 c.5621G>A c.(5620-5622)cGt>cAt p.R1874H EVPL_ENST00000586740.1_Missense_Mutation_p.R1896H NM_001988.2 NP_001979.2 Q92817 EVPL_HUMAN envoplakin 1874 Globular 2. keratinization|peptide cross-linking cornified envelope|cytoplasm|desmosome protein binding, bridging|structural molecule activity breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4) 54 GTAGCGCTCACGGCTGAGCAG 0.627000 38 38 0 0 1 0 0 CACNA1G 8913 broad.mit.edu 37 17 48703809 48703809 + Silent SNP C C T TCGA-HQ-A2OF-01A-11D-A26M-08 TCGA-HQ-A2OF-10B-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18987f5d-2351-4308-bad2-84e5cd0bf9e7 6f03f9f2-dd98-4dc0-882d-0c495fb45a4a g.chr17:48703809C>T ENST00000352832.5 + 34 6822 c.6450C>T c.(6448-6450)agC>agT p.S2150S CACNA1G_ENST00000507336.1_Silent_p.S2266S|CACNA1G_ENST00000512389.1_Silent_p.S2173S|CACNA1G_ENST00000359106.5_Silent_p.S2277S|CACNA1G_ENST00000503485.1_Silent_p.S2150S|CACNA1G_ENST00000515765.1_Silent_p.S2221S|CACNA1G_ENST00000515411.1_Silent_p.S2214S|CACNA1G_ENST00000514717.1_Silent_p.S2127S|CACNA1G_ENST00000358244.5_Silent_p.S2071S|CACNA1G_ENST00000354983.4_Silent_p.S2243S|CACNA1G_ENST00000502264.1_Silent_p.S2206S|CACNA1G_ENST00000507609.1_Silent_p.S2177S|CACNA1G_ENST00000360761.4_Silent_p.S2161S|CACNA1G_ENST00000442258.2_Silent_p.S2143S|CACNA1G_ENST00000510115.1_Silent_p.S2198S|CACNA1G_ENST00000510366.1_Silent_p.S2132S|CACNA1G_ENST00000429973.2_Silent_p.S2166S|CACNA1G_ENST00000505165.1_Silent_p.S2105S|CACNA1G_ENST00000514079.1_Silent_p.S2191S|CACNA1G_ENST00000515165.1_Silent_p.S2184S|CACNA1G_ENST00000507896.1_Silent_p.S2094S|CACNA1G_ENST00000514181.1_Silent_p.S2159S|CACNA1G_ENST00000513964.1_Silent_p.S2139S|CACNA1G_ENST00000513689.2_Silent_p.S2187S|CACNA1G_ENST00000507510.2_Silent_p.S2232S NM_001256334.1|NM_198376.2|NM_198379.2|NM_198387.2|NM_198388.2 NP_001243263.1|NP_938190.1|NP_938193.1|NP_938201.1|NP_938202.1 O43497 CAC1G_HUMAN calcium channel, voltage-dependent, T type, alpha 1G subunit 2277 axon guidance voltage-gated calcium channel complex low voltage-gated calcium channel activity breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23) 47 Breast(11;6.7e-17) BRCA - Breast invasive adenocarcinoma(22;7.52e-09) Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909) GCCTGGACAGCGGCTCCCAAC 0.652000 OREG0024569 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 4 27 0 0 1 0 0 LIMK2 3985 broad.mit.edu 37 22 31663882 31663882 + Missense_Mutation SNP C C G TCGA-HQ-A2OF-01A-11D-A26M-08 TCGA-HQ-A2OF-10B-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18987f5d-2351-4308-bad2-84e5cd0bf9e7 6f03f9f2-dd98-4dc0-882d-0c495fb45a4a g.chr22:31663882C>G ENST00000331728.4 + 10 1363 c.1249C>G c.(1249-1251)Ctg>Gtg p.L417V LIMK2_ENST00000406516.1_Missense_Mutation_p.L339V|LIMK2_ENST00000333611.4_Missense_Mutation_p.L396V|LIMK2_ENST00000444929.2_Missense_Mutation_p.L171V|LIMK2_ENST00000340552.4_Missense_Mutation_p.L396V NM_005569.3 NP_005560.1 P53671 LIMK2_HUMAN LIM domain kinase 2 417 Protein kinase. mitochondrion|nucleus ATP binding|protein serine/threonine kinase activity|zinc ion binding endometrium(7)|kidney(3)|large_intestine(6)|lung(6)|ovary(2)|prostate(4)|skin(1) 29 GAAGGACTTTCTGCGCAGTAT 0.527000 19 45 0 0 1 0 0 KCNN3 3782 broad.mit.edu 37 1 154698440 154698440 + Silent SNP C C T TCGA-HQ-A2OF-01A-11D-A26M-08 TCGA-HQ-A2OF-10B-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18987f5d-2351-4308-bad2-84e5cd0bf9e7 6f03f9f2-dd98-4dc0-882d-0c495fb45a4a g.chr1:154698440C>T ENST00000271915.4 - 5 1968 c.1653G>A c.(1651-1653)gcG>gcA p.A551A KCNN3_ENST00000358505.2_Silent_p.A238A|KCNN3_ENST00000361147.4_Silent_p.A246A NM_001204087.1|NM_002249.5 NP_001191016.1|NP_002240.3 Q9UGI6 KCNN3_HUMAN potassium intermediate/small conductance calcium-activated channel, subfamily N, member 3 integral to membrane calmodulin binding cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(11)|prostate(4)|skin(1) 28 all_lung(78;2.29e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.108)|all_neural(408;0.245) BRCA - Breast invasive adenocarcinoma(34;0.00819) CGTGCTTCTCCGCTTTGGTGA 0.572000 9 27 0 0 1 0 0 JPH4 84502 broad.mit.edu 37 14 24045163 24045163 + Silent SNP G G A TCGA-HQ-A2OF-01A-11D-A26M-08 TCGA-HQ-A2OF-10B-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18987f5d-2351-4308-bad2-84e5cd0bf9e7 6f03f9f2-dd98-4dc0-882d-0c495fb45a4a g.chr14:24045163G>A ENST00000397118.3 - 4 1784 c.882C>T c.(880-882)ttC>ttT p.F294F JPH4_ENST00000356300.4_Silent_p.F294F NM_032452.2 NP_115828.2 Q96JJ6 JPH4_HUMAN junctophilin 4 294 calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity integral to membrane|junctional sarcoplasmic reticulum membrane endometrium(1)|large_intestine(2)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 22 all_cancers(95;0.000251) GBM - Glioblastoma multiforme(265;0.00654) GGCTGACGCCGAAGCCGCTGC 0.781000 3 17 0 0 1 0 0 TRHDE 29953 broad.mit.edu 37 12 72866866 72866866 + Missense_Mutation SNP C C T TCGA-HQ-A2OF-01A-11D-A26M-08 TCGA-HQ-A2OF-10B-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18987f5d-2351-4308-bad2-84e5cd0bf9e7 6f03f9f2-dd98-4dc0-882d-0c495fb45a4a g.chr12:72866866C>T ENST00000261180.4 + 5 1451 c.1355C>T c.(1354-1356)aCg>aTg p.T452M NM_013381.2 NP_037513.1 Q9UKU6 TRHDE_HUMAN thyrotropin-releasing hormone degrading enzyme 452 cell-cell signaling|proteolysis|signal transduction integral to plasma membrane aminopeptidase activity|metallopeptidase activity|zinc ion binding p.T452M(1) NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 79 GACCTTGTGACGCCTGTGTGG 0.388000 44 39 0 0 1 0 0 BRDT 676 broad.mit.edu 37 1 92446550 92446550 + Missense_Mutation SNP T T G TCGA-HQ-A2OF-01A-11D-A26M-08 TCGA-HQ-A2OF-10B-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18987f5d-2351-4308-bad2-84e5cd0bf9e7 6f03f9f2-dd98-4dc0-882d-0c495fb45a4a g.chr1:92446550T>G ENST00000370389.2 + 10 2270 c.1346T>G c.(1345-1347)aTa>aGa p.I449R BRDT_ENST00000399546.2_Missense_Mutation_p.I522R|BRDT_ENST00000402388.1_Missense_Mutation_p.I522R|BRDT_ENST00000362005.3_Missense_Mutation_p.I522R|BRDT_ENST00000394530.3_Missense_Mutation_p.I476R NM_001242810.1 NP_001229739 Q58F21 BRDT_HUMAN bromodomain, testis-specific 522 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein serine/threonine kinase activity|transcription coactivator activity breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(24)|ovary(1)|prostate(4)|skin(2)|stomach(2)|urinary_tract(2) 56 all_lung(203;0.00531)|Lung NSC(277;0.0194) all cancers(265;0.0228)|Epithelial(280;0.133) AGTCTGAATATAAACAAACTC 0.368000 11 11 0 0 1 0 0 KPRP 448834 broad.mit.edu 37 1 152733684 152733684 + Missense_Mutation SNP G G C TCGA-HQ-A2OF-01A-11D-A26M-08 TCGA-HQ-A2OF-10B-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18987f5d-2351-4308-bad2-84e5cd0bf9e7 6f03f9f2-dd98-4dc0-882d-0c495fb45a4a g.chr1:152733684G>C ENST00000368773.1 + 2 1678 c.1620G>C c.(1618-1620)gaG>gaC p.E540D KPRP_ENST00000606109.1_Missense_Mutation_p.E540D NM_001025231.1 NP_001020402.1 Q5T749 KPRP_HUMAN keratinocyte proline-rich protein 540 cytoplasm NS(1)|breast(1)|endometrium(9)|kidney(1)|large_intestine(10)|lung(21)|ovary(6)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 60 Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.206) AGGGGCAAGAGAGTGGTGCTG 0.577000 19 52 0 0 1 0 0 ZNF131 7690 broad.mit.edu 37 5 43175204 43175204 + Missense_Mutation SNP A A G TCGA-HQ-A2OF-01A-11D-A26M-08 TCGA-HQ-A2OF-10B-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18987f5d-2351-4308-bad2-84e5cd0bf9e7 6f03f9f2-dd98-4dc0-882d-0c495fb45a4a g.chr5:43175204A>G ENST00000509634.1 + 7 2195 c.1739A>G c.(1738-1740)gAg>gGg p.E580G ZNF131_ENST00000306938.4_Missense_Mutation_p.E580G|ZNF131_ENST00000509156.1_Missense_Mutation_p.E614G|ZNF131_ENST00000509931.1_Intron|ZNF131_ENST00000505606.2_Missense_Mutation_p.E580G|ZNF131_ENST00000399534.1_Missense_Mutation_p.E614G P52739 ZN131_HUMAN zinc finger protein 131 614 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(2)|endometrium(2)|kidney(1)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1) 17 GCAGAGAATGAGGACAGAACA 0.413000 9 9 0 0 1 0 0 NES 10763 broad.mit.edu 37 1 156640305 156640305 + Silent SNP G G A TCGA-HQ-A2OF-01A-11D-A26M-08 TCGA-HQ-A2OF-10B-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18987f5d-2351-4308-bad2-84e5cd0bf9e7 6f03f9f2-dd98-4dc0-882d-0c495fb45a4a g.chr1:156640305G>A ENST00000368223.3 - 4 3807 c.3675C>T c.(3673-3675)taC>taT p.Y1225Y NM_006617.1 NP_006608.1 P48681 NEST_HUMAN nestin 1225 Tail. brain development|embryonic camera-type eye development|G2/M transition of mitotic cell cycle|negative regulation of apoptosis|positive regulation of intermediate filament depolymerization|positive regulation of neural precursor cell proliferation|stem cell proliferation cytoplasm|intermediate filament intermediate filament binding|structural molecule activity central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(30)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(4) 64 all_hematologic(923;0.088)|Hepatocellular(266;0.158) GGATCGGGGTGTACGTTGGGC 0.642000 29 120 0 0 1 0 0 MAGI2 9863 broad.mit.edu 37 7 79082469 79082469 + Silent SNP G G A TCGA-HQ-A2OF-01A-11D-A26M-08 TCGA-HQ-A2OF-10B-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18987f5d-2351-4308-bad2-84e5cd0bf9e7 6f03f9f2-dd98-4dc0-882d-0c495fb45a4a g.chr7:79082469G>A ENST00000354212.4 - 1 421 c.168C>T c.(166-168)agC>agT p.S56S MAGI2-AS3_ENST00000426835.1_RNA|MAGI2-AS3_ENST00000429408.1_RNA|MAGI2_ENST00000419488.1_Silent_p.S56S|MAGI2_ENST00000522391.1_Silent_p.S56S NM_012301.3 NP_036433.2 Q86UL8 MAGI2_HUMAN membrane associated guanylate kinase, WW and PDZ domain containing 2 56 PDZ 1. cell junction|synapse|synaptosome phosphatase binding NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(37)|ovary(5)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(3) 84 all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236) ATTTGCTGCCGCTCTCATAGG 0.642000 22 67 0 0 1 0 0 APBA2 321 broad.mit.edu 37 15 29346111 29346111 + Silent SNP C C T TCGA-HQ-A2OF-01A-11D-A26M-08 TCGA-HQ-A2OF-10B-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18987f5d-2351-4308-bad2-84e5cd0bf9e7 6f03f9f2-dd98-4dc0-882d-0c495fb45a4a g.chr15:29346111C>T ENST00000558402.1 + 5 623 c.24C>T c.(22-24)agC>agT p.S8S APBA2_ENST00000561069.1_Silent_p.S8S|APBA2_ENST00000411764.1_Silent_p.S8S|APBA2_ENST00000558330.1_Silent_p.S8S|APBA2_ENST00000558259.1_Silent_p.S8S Q99767 APBA2_HUMAN amyloid beta (A4) precursor protein-binding, family A, member 2 8 nervous system development|protein transport protein binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|liver(2)|lung(33)|stomach(1)|urinary_tract(1) 59 all_lung(180;1.73e-12)|Breast(32;2.89e-05)|Colorectal(260;0.234) all cancers(64;7.44e-11)|Epithelial(43;5.74e-10)|GBM - Glioblastoma multiforme(186;0.026)|BRCA - Breast invasive adenocarcinoma(123;0.0286)|Lung(196;0.24) AGCTTGAGAGCGTGGGGAGCG 0.612000 5 18 0 0 1 0 0 HIST1H3G 8355 broad.mit.edu 37 6 26271205 26271205 + Silent SNP C C A TCGA-HQ-A2OF-01A-11D-A26M-08 TCGA-HQ-A2OF-10B-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18987f5d-2351-4308-bad2-84e5cd0bf9e7 6f03f9f2-dd98-4dc0-882d-0c495fb45a4a g.chr6:26271205C>A ENST00000305910.3 - 1 407 c.408G>T c.(406-408)gcG>gcT p.A136A NM_003534.2 NP_003525.1 P68431 H31_HUMAN histone cluster 1, H3g 136 blood coagulation|nucleosome assembly|regulation of gene silencing|S phase nucleoplasm|nucleosome DNA binding|protein binding breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 12 GAAACCTCTACGCTCTCTCCC 0.473000 22 5 7.45023e-12 7.97924e-12 1 1 0 TMTC2 160335 broad.mit.edu 37 12 83290125 83290125 + Missense_Mutation SNP G G T TCGA-HQ-A2OF-01A-11D-A26M-08 TCGA-HQ-A2OF-10B-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18987f5d-2351-4308-bad2-84e5cd0bf9e7 6f03f9f2-dd98-4dc0-882d-0c495fb45a4a g.chr12:83290125G>T ENST00000549919.1 + 4 2970 c.1165G>T c.(1165-1167)Gtt>Ttt p.V389F TMTC2_ENST00000548305.1_Missense_Mutation_p.V395F|TMTC2_ENST00000321196.3_Missense_Mutation_p.V395F Q8N394 TMTC2_HUMAN transmembrane and tetratricopeptide repeat containing 2 395 endoplasmic reticulum|integral to membrane binding breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(7)|lung(13)|ovary(2)|skin(1)|urinary_tract(1) 39 GAACATTGTTGTTCTGTCTTT 0.393000 73 7 6.14238e-36 6.73801e-36 1 1 0 MITF 4286 broad.mit.edu 37 3 70014279 70014279 + Silent SNP C C T TCGA-HQ-A2OF-01A-11D-A26M-08 TCGA-HQ-A2OF-10B-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18987f5d-2351-4308-bad2-84e5cd0bf9e7 6f03f9f2-dd98-4dc0-882d-0c495fb45a4a g.chr3:70014279C>T ENST00000352241.4 + 10 1606 c.1443C>T c.(1441-1443)gaC>gaT p.D481D MITF_ENST00000314589.5_Silent_p.D465D|MITF_ENST00000394351.3_Silent_p.D380D|MITF_ENST00000314557.6_Silent_p.D374D|MITF_ENST00000472437.1_Silent_p.D429D|MITF_ENST00000531774.1_Silent_p.D318D|MITF_ENST00000394355.2_Silent_p.D456D|MITF_ENST00000448226.2_Silent_p.D487D|MITF_ENST00000328528.6_Silent_p.D480D NM_198159.2 NP_937802.1 O75030 MITF_HUMAN microphthalmia-associated transcription factor 487 melanocyte differentiation|multicellular organismal development|protein complex assembly nucleus|protein complex DNA binding|protein binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription NS(1)|autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(5)|ovary(2)|skin(6)|stomach(1)|urinary_tract(2) 30 Lung NSC(201;0.0384)|Prostate(884;0.0526) BRCA - Breast invasive adenocarcinoma(55;3.07e-05)|Epithelial(33;0.000138)|LUSC - Lung squamous cell carcinoma(21;0.008)|Lung(16;0.0107)|KIRC - Kidney renal clear cell carcinoma(39;0.204)|Kidney(39;0.239) TCCTGATGGACGACACCCTTT 0.537000 A melanoma """Waardenburg syndrome type 2, Tietz syndrome""" 13 39 0 0 1 0 0 ZNF229 7772 broad.mit.edu 37 19 44934152 44934152 + Silent SNP G G A TCGA-HQ-A2OF-01A-11D-A26M-08 TCGA-HQ-A2OF-10B-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18987f5d-2351-4308-bad2-84e5cd0bf9e7 6f03f9f2-dd98-4dc0-882d-0c495fb45a4a g.chr19:44934152G>A ENST00000291187.4 - 6 1108 c.786C>T c.(784-786)aaC>aaT p.N262N ZNF229_ENST00000588931.1_Silent_p.N268N|CTC-512J12.4_ENST00000588655.1_RNA|ZNF229_ENST00000591289.1_Intron NM_001278510.1 NP_001265439.1 Q9UJW7 ZN229_HUMAN zinc finger protein 229 268 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(5)|central_nervous_system(2)|endometrium(6)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1) 45 Prostate(69;0.0352) TTCTGTATTCGTTACTTTTCA 0.423000 5 31 0 0 1 0 0 CBLL1 79872 broad.mit.edu 37 7 107399524 107399524 + Silent SNP G G A TCGA-HQ-A2OF-01A-11D-A26M-08 TCGA-HQ-A2OF-10B-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18987f5d-2351-4308-bad2-84e5cd0bf9e7 6f03f9f2-dd98-4dc0-882d-0c495fb45a4a g.chr7:107399524G>A ENST00000440859.3 + 6 1844 c.1377G>A c.(1375-1377)ggG>ggA p.G459G CBLL1_ENST00000222597.2_Silent_p.G458G NM_001284291.1|NM_024814.2 NP_001271220.1|NP_079090.2 Q75N03 HAKAI_HUMAN Cbl proto-oncogene-like 1, E3 ubiquitin protein ligase Pro-rich. cell-cell adhesion|negative regulation of cell adhesion|positive regulation of cell migration|positive regulation of endocytosis protein binding|ubiquitin-protein ligase activity|zinc ion binding endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(3)|skin(3) 21 CACCAAGAGGGCCACCACCAC 0.507000 34 80 0 0 1 0 0 GTF3C3 9330 broad.mit.edu 37 2 197636594 197636594 + Missense_Mutation SNP G G A TCGA-HQ-A2OF-01A-11D-A26M-08 TCGA-HQ-A2OF-10B-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18987f5d-2351-4308-bad2-84e5cd0bf9e7 6f03f9f2-dd98-4dc0-882d-0c495fb45a4a g.chr2:197636594G>A ENST00000263956.3 - 15 2227 c.2138C>T c.(2137-2139)tCc>tTc p.S713F NM_012086.4 NP_036218.1 Q9Y5Q9 TF3C3_HUMAN general transcription factor IIIC, polypeptide 3, 102kDa 713 transcription factor TFIIIC complex DNA binding|protein binding breast(4)|endometrium(3)|kidney(1)|large_intestine(9)|lung(5)|ovary(3)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 33 TACATCTTGGGAGTGCATGGT 0.403000 34 22 0 0 1 0 0 TMEM119 338773 broad.mit.edu 37 12 108986044 108986044 + Missense_Mutation SNP G G A TCGA-HQ-A2OF-01A-11D-A26M-08 TCGA-HQ-A2OF-10B-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18987f5d-2351-4308-bad2-84e5cd0bf9e7 6f03f9f2-dd98-4dc0-882d-0c495fb45a4a g.chr12:108986044G>A ENST00000392806.3 - 2 284 c.116C>T c.(115-117)gCg>gTg p.A39V NM_181724.2 NP_859075.2 Q4V9L6 TM119_HUMAN transmembrane protein 119 39 integral to membrane large_intestine(2)|lung(3)|ovary(1)|skin(1) 7 CCCACTACCCGCCACATCCTC 0.706000 6 7 0 0 1 0 0 DROSHA 29102 broad.mit.edu 37 5 31435937 31435937 + Missense_Mutation SNP C C T TCGA-HQ-A2OF-01A-11D-A26M-08 TCGA-HQ-A2OF-10B-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18987f5d-2351-4308-bad2-84e5cd0bf9e7 6f03f9f2-dd98-4dc0-882d-0c495fb45a4a g.chr5:31435937C>T ENST00000511367.2 - 24 3221 c.2977G>A c.(2977-2979)Gaa>Aaa p.E993K DROSHA_ENST00000344624.3_Missense_Mutation_p.E993K|DROSHA_ENST00000442743.1_Missense_Mutation_p.E956K|DROSHA_ENST00000513349.1_Missense_Mutation_p.E956K NM_013235.4 NP_037367.3 Q9NRR4 RNC_HUMAN drosha, ribonuclease type III 993 Necessary for interaction with DGCR8 and pri-miRNA processing activity.|RNase III 1. gene silencing by RNA|ribosome biogenesis|RNA processing nucleolus|nucleoplasm double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(19)|lung(33)|ovary(2)|skin(1) 66 AATCCTCCTTCTTCCAGACTA 0.408000 12 27 0 0 1 0 0 FBP2 8789 broad.mit.edu 37 9 97321411 97321411 + Missense_Mutation SNP G G A TCGA-HQ-A2OF-01A-11D-A26M-08 TCGA-HQ-A2OF-10B-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18987f5d-2351-4308-bad2-84e5cd0bf9e7 6f03f9f2-dd98-4dc0-882d-0c495fb45a4a g.chr9:97321411G>A ENST00000375337.3 - 7 895 c.829C>T c.(829-831)Cgg>Tgg p.R277W PCAT7_ENST00000452148.2_RNA NM_003837.2 NP_003828.2 O00757 F16P2_HUMAN fructose-1,6-bisphosphatase 2 277 Substrate binding (By similarity). fructose metabolic process|gluconeogenesis cytosol fructose 1,6-bisphosphate 1-phosphatase activity|fructose-2,6-bisphosphate 2-phosphatase activity|metal ion binding endometrium(1)|large_intestine(3)|lung(5) 9 Acute lymphoblastic leukemia(62;0.136) TACAGGAGCCGGAGCTGTGGA 0.597000 13 22 0 0 1 0 0 CDC25C 995 broad.mit.edu 37 5 137626404 137626404 + Missense_Mutation SNP G G A TCGA-HQ-A2OF-01A-11D-A26M-08 TCGA-HQ-A2OF-10B-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18987f5d-2351-4308-bad2-84e5cd0bf9e7 6f03f9f2-dd98-4dc0-882d-0c495fb45a4a g.chr5:137626404G>A ENST00000323760.6 - 9 1066 c.788C>T c.(787-789)tCt>tTt p.S263F CDC25C_ENST00000514555.1_Missense_Mutation_p.S233F|CDC25C_ENST00000356505.3_Missense_Mutation_p.S233F|CDC25C_ENST00000348983.3_Missense_Mutation_p.S190F|CDC25C_ENST00000357274.3_Missense_Mutation_p.S220F|CDC25C_ENST00000415130.2_Missense_Mutation_p.S190F|CDC25C_ENST00000513970.1_Missense_Mutation_p.S263F NM_001790.3 NP_001781.2 P30307 MPIP3_HUMAN cell division cycle 25C 263 cell cycle checkpoint|cell division|cell proliferation|DNA replication|G2/M transition of mitotic cell cycle|interspecies interaction between organisms|mitosis|regulation of cyclin-dependent protein kinase activity|regulation of mitosis|traversing start control point of mitotic cell cycle cytosol|nucleoplasm protein tyrosine phosphatase activity|WW domain binding endometrium(2)|kidney(3)|large_intestine(5)|lung(5)|skin(1) 16 KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592) GTCACACAGAGAGACTGTCTT 0.463000 12 12 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179641976 179641976 + Nonsense_Mutation SNP G G A TCGA-HQ-A2OF-01A-11D-A26M-08 TCGA-HQ-A2OF-10B-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18987f5d-2351-4308-bad2-84e5cd0bf9e7 6f03f9f2-dd98-4dc0-882d-0c495fb45a4a g.chr2:179641976G>A ENST00000589042.1 - 27 4938 c.4714C>T c.(4714-4716)Cga>Tga p.R1572* TTN_ENST00000591111.1_Nonsense_Mutation_p.R1572*|TTN_ENST00000342175.6_Nonsense_Mutation_p.R1526*|RP11-88L24.4_ENST00000582038.2_RNA|TTN_ENST00000359218.5_Nonsense_Mutation_p.R1526*|TTN_ENST00000460472.2_Nonsense_Mutation_p.R1526*|TTN_ENST00000360870.5_Nonsense_Mutation_p.R1572*|TTN_ENST00000342992.6_Nonsense_Mutation_p.R1572* NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 1307 Ig-like 7. Q -> R (in dbSNP:rs12476289). ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity p.R1526*(3)|p.R1572*(2) 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) ATTTCAAGTCGGGAACCTTCC 0.393000 19 32 0 0 1 0 0 BIVM-ERCC5 100533467 broad.mit.edu 37 13 103492102 103492102 + Missense_Mutation SNP C C T TCGA-HQ-A2OF-01A-11D-A26M-08 TCGA-HQ-A2OF-10B-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18987f5d-2351-4308-bad2-84e5cd0bf9e7 6f03f9f2-dd98-4dc0-882d-0c495fb45a4a g.chr13:103492102C>T ENST00000602836.1 + 9 1313 c.1313C>T c.(1312-1314)cCg>cTg p.P438L BIVM_ENST00000257336.1_Missense_Mutation_p.R467W|BIVM_ENST00000419638.1_3'UTR|BIVM_ENST00000448849.2_Missense_Mutation_p.R245W NM_001204425.1 NP_001191354.1 Q59FZ7 Q59FZ7_HUMAN 0 nucleotide-excision repair nucleus endonuclease activity|single-stranded DNA binding GCGTCTGGGCCGGTCTTTCAG 0.463000 26 59 0 0 1 0 0 CHRM4 1132 broad.mit.edu 37 11 46406976 46406976 + Missense_Mutation SNP C C T TCGA-HQ-A2OF-01A-11D-A26M-08 TCGA-HQ-A2OF-10B-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18987f5d-2351-4308-bad2-84e5cd0bf9e7 6f03f9f2-dd98-4dc0-882d-0c495fb45a4a g.chr11:46406976C>T ENST00000433765.2 - 1 1131 c.1132G>A c.(1132-1134)Gcc>Acc p.A378T NM_000741.2 NP_000732.2 P08173 ACM4_HUMAN cholinergic receptor, muscarinic 4 378 cell proliferation cell junction|integral to plasma membrane|postsynaptic membrane muscarinic acetylcholine receptor activity p.A378T(1) breast(1)|endometrium(7)|kidney(1)|large_intestine(1)|lung(6)|prostate(3)|skin(1) 20 GBM - Glioblastoma multiforme(35;0.0254)|Lung(87;0.14) Atropine(DB00572)|Benzquinamide(DB00767)|Cryptenamine(DB00785)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Thiethylperazine(DB00372)|Tropicamide(DB00809) GCGATGCTGGCGAACTTGCGG 0.612000 53 31 0 0 1 0 0 DNAJC5 80331 broad.mit.edu 37 20 62560744 62560744 + Missense_Mutation SNP G G A TCGA-HQ-A2OF-01A-11D-A26M-08 TCGA-HQ-A2OF-10B-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18987f5d-2351-4308-bad2-84e5cd0bf9e7 6f03f9f2-dd98-4dc0-882d-0c495fb45a4a g.chr20:62560744G>A ENST00000360864.4 + 3 340 c.187G>A c.(187-189)Gcg>Acg p.A63T DNAJC5_ENST00000369911.2_Missense_Mutation_p.A63T NM_025219.2 NP_079495.1 Q9H3Z4 DNJC5_HUMAN DnaJ (Hsp40) homolog, subfamily C, member 5 63 J. neurotransmitter secretion|protein folding clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|melanosome|plasma membrane heat shock protein binding|unfolded protein binding cervix(1)|endometrium(1)|lung(1)|pancreas(1)|upper_aerodigestive_tract(1) 5 all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08) GATCAACAACGCGCACGCCAT 0.547000 16 63 0 0 1 0 0 ABCA13 154664 broad.mit.edu 37 7 48314855 48314855 + Silent SNP G G A TCGA-HQ-A2OF-01A-11D-A26M-08 TCGA-HQ-A2OF-10B-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18987f5d-2351-4308-bad2-84e5cd0bf9e7 6f03f9f2-dd98-4dc0-882d-0c495fb45a4a g.chr7:48314855G>A ENST00000435803.1 + 17 5616 c.5592G>A c.(5590-5592)ctG>ctA p.L1864L NM_152701.3 NP_689914.2 Q86UQ4 ABCAD_HUMAN ATP-binding cassette, sub-family A (ABC1), member 13 1864 transport integral to membrane ATP binding|ATPase activity breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4) 270 ATTTCCACCTGTCTCCCCAAG 0.423000 9 16 0 0 1 0 0 EML5 161436 broad.mit.edu 37 14 89131789 89131789 + Missense_Mutation SNP C C T TCGA-HQ-A2OF-01A-11D-A26M-08 TCGA-HQ-A2OF-10B-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18987f5d-2351-4308-bad2-84e5cd0bf9e7 6f03f9f2-dd98-4dc0-882d-0c495fb45a4a g.chr14:89131789C>T ENST00000554922.1 - 22 3417 c.3169G>A c.(3169-3171)Gta>Ata p.V1057I EML5_ENST00000352093.5_Missense_Mutation_p.V1019I|EML5_ENST00000380664.5_Missense_Mutation_p.V1057I NM_183387.2 NP_899243.1 Q05BV3 EMAL5_HUMAN echinoderm microtubule associated protein like 5 1057 cytoplasm|microtubule breast(1)|endometrium(3)|kidney(4)|large_intestine(17)|lung(14)|ovary(3)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 50 TTGAGACCTACGGCTAAAGCT 0.378000 11 13 0 0 1 0 0 NLRP14 338323 broad.mit.edu 37 11 7064538 7064538 + Silent SNP G G T TCGA-HQ-A2OF-01A-11D-A26M-08 TCGA-HQ-A2OF-10B-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18987f5d-2351-4308-bad2-84e5cd0bf9e7 6f03f9f2-dd98-4dc0-882d-0c495fb45a4a g.chr11:7064538G>T ENST00000299481.4 + 4 1627 c.1281G>T c.(1279-1281)ctG>ctT p.L427L NM_176822.3 NP_789792.1 Q86W24 NAL14_HUMAN NLR family, pyrin domain containing 14 427 NACHT. cell differentiation|multicellular organismal development|spermatogenesis ATP binding breast(3)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 21 Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871) TGAGAAGACTGTGCCAAGTCG 0.438000 38 29 3.21399e-22 3.48343e-22 1 1 0 PLCXD1 55344 broad.mit.edu 37 X 208186 208186 + Silent SNP G G A TCGA-HQ-A2OF-01A-11D-A26M-08 TCGA-HQ-A2OF-10B-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18987f5d-2351-4308-bad2-84e5cd0bf9e7 6f03f9f2-dd98-4dc0-882d-0c495fb45a4a g.chrX:208186G>A ENST00000381657.2 + 5 928 c.414G>A c.(412-414)tcG>tcA p.S138S PLCXD1_ENST00000484611.2_3'UTR|PLCXD1_ENST00000381663.3_Silent_p.S138S|PLCXD1_ENST00000399012.1_Silent_p.S138S NM_018390.3 NP_060860.1 Q9NUJ7 PLCX1_HUMAN phosphatidylinositol-specific phospholipase C, X domain containing 1 138 PI-PLC X-box. intracellular signal transduction|lipid metabolic process phospholipase C activity endometrium(3)|large_intestine(1)|lung(7) 11 all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122) CGGAAATCTCGGAGTGGCTGG 0.647000 4 30 0 0 1 0 0 METTL17 64745 broad.mit.edu 37 14 21463349 21463349 + Missense_Mutation SNP C C G TCGA-HQ-A2OF-01A-11D-A26M-08 TCGA-HQ-A2OF-10B-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18987f5d-2351-4308-bad2-84e5cd0bf9e7 6f03f9f2-dd98-4dc0-882d-0c495fb45a4a g.chr14:21463349C>G ENST00000339374.6 + 10 1135 c.902C>G c.(901-903)gCt>gGt p.A301G METTL17_ENST00000556670.2_Missense_Mutation_p.A301G|METTL17_ENST00000382985.4_Missense_Mutation_p.A301G NM_001029991.1|NM_022734.2 NP_001025162.1|NP_073571.1 Q9H7H0 MET17_HUMAN methyltransferase like 17 301 translation mitochondrion|ribosome copper ion binding|methyltransferase activity central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|skin(2) 20 GGAACAAAAGCTGGGCACAGC 0.458000 32 59 0 0 1 0 0 AQP10 89872 broad.mit.edu 37 1 154296116 154296116 + Missense_Mutation SNP C C T TCGA-HQ-A2OF-01A-11D-A26M-08 TCGA-HQ-A2OF-10B-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18987f5d-2351-4308-bad2-84e5cd0bf9e7 6f03f9f2-dd98-4dc0-882d-0c495fb45a4a g.chr1:154296116C>T ENST00000484864.1 + 5 577 c.541C>T c.(541-543)Cgg>Tgg p.R181W AQP10_ENST00000324978.3_Missense_Mutation_p.R181W|AQP10_ENST00000355197.4_3'UTR Q96PS8 AQP10_HUMAN aquaporin 10 181 response to toxin|transmembrane transport|water transport integral to membrane|plasma membrane transporter activity p.R181W(2) central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(14)|stomach(2)|upper_aerodigestive_tract(1) 23 all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877) LUSC - Lung squamous cell carcinoma(543;0.185) CCTGGACAGACGGAACAAGGG 0.612000 37 151 0 0 1 0 0 RAB6B 51560 broad.mit.edu 37 3 133583443 133583443 + Silent SNP G G A TCGA-HQ-A2OF-01A-11D-A26M-08 TCGA-HQ-A2OF-10B-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18987f5d-2351-4308-bad2-84e5cd0bf9e7 6f03f9f2-dd98-4dc0-882d-0c495fb45a4a g.chr3:133583443G>A ENST00000285208.4 - 2 463 c.114C>T c.(112-114)ttC>ttT p.F38F RAB6B_ENST00000486858.1_Silent_p.F25F|RAB6B_ENST00000543906.1_Silent_p.F38F|RAB6B_ENST00000469959.1_Intron NM_016577.3 NP_057661.3 Q9NRW1 RAB6B_HUMAN RAB6B, member RAS oncogene family 38 protein transport|retrograde vesicle-mediated transport, Golgi to ER|small GTPase mediated signal transduction cytoplasmic membrane-bounded vesicle|Golgi membrane GTP binding|GTPase activity|protein binding p.F38F(1) NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|pancreas(1) 11 ATGTGTTGTCGAAGCTGTCGT 0.517000 32 64 0 0 1 0 0 CAMSAP1 157922 broad.mit.edu 37 9 138715101 138715101 + Missense_Mutation SNP G G A TCGA-HQ-A2OF-01A-11D-A26M-08 TCGA-HQ-A2OF-10B-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18987f5d-2351-4308-bad2-84e5cd0bf9e7 6f03f9f2-dd98-4dc0-882d-0c495fb45a4a g.chr9:138715101G>A ENST00000389532.4 - 11 1470 c.1406C>T c.(1405-1407)gCg>gTg p.A469V CAMSAP1_ENST00000312405.6_Missense_Mutation_p.A191V|CAMSAP1_ENST00000483991.1_5'UTR|CAMSAP1_ENST00000409386.3_Missense_Mutation_p.A480V NM_015447.3 NP_056262.3 Q5T5Y3 CAMP1_HUMAN calmodulin regulated spectrin-associated protein 1 469 cytoplasm|microtubule p.A469V(1) breast(3)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(11)|lung(16)|ovary(3)|pancreas(1)|skin(1) 47 OV - Ovarian serous cystadenocarcinoma(145;1.4e-06)|Epithelial(140;1.11e-05) TGGCTGGGACGCAGGCCTGAA 0.587000 14 20 0 0 1 0 0 OR1K1 392392 broad.mit.edu 37 9 125562419 125562419 + Silent SNP G G A TCGA-HQ-A2OF-01A-11D-A26M-08 TCGA-HQ-A2OF-10B-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18987f5d-2351-4308-bad2-84e5cd0bf9e7 6f03f9f2-dd98-4dc0-882d-0c495fb45a4a g.chr9:125562419G>A ENST00000277309.2 + 1 50 c.18G>A c.(16-18)gaG>gaA p.E6E NM_080859.1 NP_543135.1 Q8NGR3 OR1K1_HUMAN olfactory receptor, family 1, subfamily K, member 1 6 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|large_intestine(8)|lung(2)|ovary(1)|skin(4)|stomach(1) 17 CTGCCAATGAGTCTTCAGAGG 0.522000 4 6 0 0 1 0 0 LMAN1L 79748 broad.mit.edu 37 15 75111553 75111553 + Missense_Mutation SNP C C T TCGA-HQ-A2OF-01A-11D-A26M-08 TCGA-HQ-A2OF-10B-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18987f5d-2351-4308-bad2-84e5cd0bf9e7 6f03f9f2-dd98-4dc0-882d-0c495fb45a4a g.chr15:75111553C>T ENST00000309664.5 + 6 797 c.658C>T c.(658-660)Ccc>Tcc p.P220S LMAN1L_ENST00000379709.3_Missense_Mutation_p.P220S NM_021819.2 NP_068591.2 Q9HAT1 LMA1L_HUMAN lectin, mannose-binding, 1 like 220 L-type lectin-like. ER-Golgi intermediate compartment membrane|integral to membrane sugar binding NS(2)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 GGATGTGGGGCCCCTGCTTTT 0.602000 35 91 0 0 1 0 0 MXRA7 439921 broad.mit.edu 37 17 74673702 74673702 + Missense_Mutation SNP C C T rs143033560 byFrequency TCGA-HQ-A2OF-01A-11D-A26M-08 TCGA-HQ-A2OF-10B-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18987f5d-2351-4308-bad2-84e5cd0bf9e7 6f03f9f2-dd98-4dc0-882d-0c495fb45a4a g.chr17:74673702C>T ENST00000355797.3 - 4 591 c.583G>A c.(583-585)Gtg>Atg p.V195M NM_001008528.1 NP_001008528.1 P84157 MXRA7_HUMAN matrix-remodelling associated 7 195 integral to membrane kidney(1)|large_intestine(2)|lung(2)|skin(1) 6 TGCTCCTGCACGTCGCCGTCG 0.582000 5 50 0 0 1 0 0 GNPDA1 10007 broad.mit.edu 37 5 141382773 141382773 + Missense_Mutation SNP C C T TCGA-HQ-A2OF-01A-11D-A26M-08 TCGA-HQ-A2OF-10B-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18987f5d-2351-4308-bad2-84e5cd0bf9e7 6f03f9f2-dd98-4dc0-882d-0c495fb45a4a g.chr5:141382773C>T ENST00000508177.1 - 5 1407 c.649G>A c.(649-651)Gag>Aag p.E217K GNPDA1_ENST00000513454.1_Missense_Mutation_p.E217K|GNPDA1_ENST00000542860.1_Missense_Mutation_p.E140K|GNPDA1_ENST00000500692.2_Missense_Mutation_p.E217K|GNPDA1_ENST00000503794.1_Missense_Mutation_p.E217K|GNPDA1_ENST00000311337.6_Missense_Mutation_p.E217K|GNPDA1_ENST00000458112.2_Missense_Mutation_p.E183K P46926 GNPI1_HUMAN glucosamine-6-phosphate deaminase 1 217 generation of precursor metabolites and energy|glucosamine catabolic process|N-acetylglucosamine metabolic process|single fertilization cytoplasm glucosamine-6-phosphate deaminase activity|hydrolase activity central_nervous_system(1)|lung(1)|skin(3)|stomach(1) 6 all_hematologic(541;0.118) KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) ACTCCCTCCTCGATGGCCTTG 0.537000 11 12 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179474260 179474260 + Silent SNP C C T TCGA-HQ-A2OF-01A-11D-A26M-08 TCGA-HQ-A2OF-10B-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18987f5d-2351-4308-bad2-84e5cd0bf9e7 6f03f9f2-dd98-4dc0-882d-0c495fb45a4a g.chr2:179474260C>T ENST00000589042.1 - 273 52001 c.51777G>A c.(51775-51777)gtG>gtA p.V17259V TTN_ENST00000591111.1_Silent_p.V15618V|TTN_ENST00000342175.6_Silent_p.V8386V|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000359218.5_Silent_p.V8319V|TTN_ENST00000460472.2_Silent_p.V8194V|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN_ENST00000342992.6_Silent_p.V14691V NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 15618 Fibronectin type-III 25. 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) CACCTCGTTTCACTTCTAGGC 0.343000 26 68 0 0 1 0 0 SRGAP3 9901 broad.mit.edu 37 3 9027542 9027542 + Silent SNP C C T TCGA-HQ-A2OF-01A-11D-A26M-08 TCGA-HQ-A2OF-10B-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18987f5d-2351-4308-bad2-84e5cd0bf9e7 6f03f9f2-dd98-4dc0-882d-0c495fb45a4a g.chr3:9027542C>T ENST00000383836.3 - 22 3388 c.2961G>A c.(2959-2961)gcG>gcA p.A987A SRGAP3_ENST00000360413.3_Silent_p.A963A NM_014850.3 NP_055665.1 O43295 SRGP2_HUMAN SLIT-ROBO Rho GTPase activating protein 3 987 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) CCACATCTGGCGCCTGCTTGA 0.652000 T RAF1 pilocytic astrocytoma 22 51 0 0 1 0 0 FOLH1B 219595 broad.mit.edu 37 11 89402621 89402621 + RNA SNP C C T TCGA-HQ-A2OF-01A-11D-A26M-08 TCGA-HQ-A2OF-10B-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18987f5d-2351-4308-bad2-84e5cd0bf9e7 6f03f9f2-dd98-4dc0-882d-0c495fb45a4a g.chr11:89402621C>T ENST00000532352.1 + 0 858 Q9HBA9 FOH1B_HUMAN folate hydrolase 1B proteolysis cytoplasm dipeptidase activity|metal ion binding|metallopeptidase activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(26)|ovary(4)|skin(4)|urinary_tract(2) 48 GAGGAAGTCTCAAAGTGTCCT 0.388000 14 23 0 0 1 0 0 LRP1B 53353 broad.mit.edu 37 2 140990760 140990760 + Missense_Mutation SNP C C T TCGA-HQ-A2OF-01A-11D-A26M-08 TCGA-HQ-A2OF-10B-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18987f5d-2351-4308-bad2-84e5cd0bf9e7 6f03f9f2-dd98-4dc0-882d-0c495fb45a4a g.chr2:140990760C>T ENST00000389484.3 - 91 14766 c.13795G>A c.(13795-13797)Gca>Aca p.A4599T NM_018557.2 NP_061027.2 Q9NZR2 LRP1B_HUMAN low density lipoprotein receptor-related protein 1B 4599 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) ACTGATTATGCCACTGTCTCT 0.318000 TSP Lung(27;0.18) 10 6 0 0 1 0 0 FAT1 2195 broad.mit.edu 37 4 187549409 187549409 + Missense_Mutation SNP C C A TCGA-HQ-A2OF-01A-11D-A26M-08 TCGA-HQ-A2OF-10B-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18987f5d-2351-4308-bad2-84e5cd0bf9e7 6f03f9f2-dd98-4dc0-882d-0c495fb45a4a g.chr4:187549409C>A ENST00000441802.2 - 9 4918 c.4709G>T c.(4708-4710)cGg>cTg p.R1570L NM_005245.3 NP_005236.2 Q14517 FAT1_HUMAN FAT atypical cadherin 1 1570 Cadherin 14. actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm calcium ion binding|protein binding NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4) 228 TTCATAAACCCGCCCTTTGTA 0.522000 HNSCC(5;0.00058) 5 10 1 1 1 1 0 ERBB2 2064 broad.mit.edu 37 17 37881332 37881332 + Missense_Mutation SNP G G A TCGA-HQ-A2OF-01A-11D-A26M-08 TCGA-HQ-A2OF-10B-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18987f5d-2351-4308-bad2-84e5cd0bf9e7 6f03f9f2-dd98-4dc0-882d-0c495fb45a4a g.chr17:37881332G>A ENST00000406381.2 + 23 2944 c.2434G>A c.(2434-2436)Gta>Ata p.V812I ERBB2_ENST00000584450.1_Missense_Mutation_p.V842I|ERBB2_ENST00000584601.1_Missense_Mutation_p.V812I|ERBB2_ENST00000540147.1_Missense_Mutation_p.V812I|ERBB2_ENST00000269571.5_Missense_Mutation_p.V842I|ERBB2_ENST00000541774.1_Missense_Mutation_p.V827I|ERBB2_ENST00000445658.2_Missense_Mutation_p.V566I NM_001005862.1 NP_001005862.1 P04626 ERBB2_HUMAN v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2 842 Protein kinase. cell proliferation|heart development|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of cell adhesion|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|protein autophosphorylation|regulation of angiogenesis|regulation of microtubule-based process|regulation of transcription, DNA-dependent|transcription, DNA-dependent|wound healing integral to membrane|nucleus|perinuclear region of cytoplasm|receptor complex ATP binding|DNA binding|epidermal growth factor receptor activity|ErbB-3 class receptor binding|identical protein binding|protein C-terminus binding|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity p.V842I(6) NS(1)|breast(16)|central_nervous_system(17)|endometrium(6)|haematopoietic_and_lymphoid_tissue(8)|kidney(4)|large_intestine(16)|liver(3)|lung(125)|ovary(18)|pancreas(1)|prostate(4)|skin(1)|stomach(14)|upper_aerodigestive_tract(9)|urinary_tract(4) 247 all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052) Ovarian(249;0.0547)|Colorectal(1115;0.234) UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171) UCEC - Uterine corpus endometrioid carcinoma (308;0.0767) Lapatinib(DB01259)|Letrozole(DB01006)|Trastuzumab(DB00072) TGTGCGGCTCGTACACAGGGA 0.597000 1 """A, Mis, O""" """breast, ovarian, other tumour types, NSCLC, gastric""" TCGA GBM(5;<1E-08) 262 47 0 0 1 0 0 PCDHB18P 54660 broad.mit.edu 37 5 140615733 140615733 + RNA SNP A A G rs2907306 by1000genomes TCGA-HQ-A2OF-01A-11D-A26M-08 TCGA-HQ-A2OF-10B-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18987f5d-2351-4308-bad2-84e5cd0bf9e7 6f03f9f2-dd98-4dc0-882d-0c495fb45a4a g.chr5:140615733A>G ENST00000526308.1 + 0 1796 NR_001281.1 endometrium(9)|lung(7)|ovary(1)|urinary_tract(1) 18 GCCGCAGACCACGGCTCCCCG 0.667000 9 72 0 0 1 0 0 TLE2 7089 broad.mit.edu 37 19 3014582 3014582 + Silent SNP G G A TCGA-HQ-A2OF-01A-11D-A26M-08 TCGA-HQ-A2OF-10B-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18987f5d-2351-4308-bad2-84e5cd0bf9e7 6f03f9f2-dd98-4dc0-882d-0c495fb45a4a g.chr19:3014582G>A ENST00000262953.6 - 10 971 c.709C>T c.(709-711)Ctg>Ttg p.L237L TLE2_ENST00000455444.2_Silent_p.L115L|TLE2_ENST00000591529.1_Silent_p.L251L|TLE2_ENST00000426948.2_Silent_p.L251L|TLE2_ENST00000443826.3_Silent_p.L115L|TLE2_ENST00000447365.2_5'UTR|TLE2_ENST00000586422.1_Intron|TLE2_ENST00000587217.1_5'UTR|TLE2_ENST00000590536.1_Silent_p.L238L NM_003260.4 NP_003251.2 Q04725 TLE2_HUMAN transducin-like enhancer of split 2 (E(sp1) homolog, Drosophila) 237 CCN domain. negative regulation of canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|organ morphogenesis|transcription, DNA-dependent|Wnt receptor signaling pathway nucleus protein binding|transcription corepressor activity breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|prostate(1) 13 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) TCCACCACCAGATTGTAATCA 0.597000 7 9 0 0 1 0 0 NFATC2 4773 broad.mit.edu 37 20 50007937 50007937 + Missense_Mutation SNP G G A TCGA-HQ-A2OF-01A-11D-A26M-08 TCGA-HQ-A2OF-10B-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18987f5d-2351-4308-bad2-84e5cd0bf9e7 6f03f9f2-dd98-4dc0-882d-0c495fb45a4a g.chr20:50007937G>A ENST00000396009.3 - 10 2993 c.2774C>T c.(2773-2775)aCg>aTg p.T925M NFATC2_ENST00000609507.1_3'UTR|NFATC2_ENST00000371564.3_3'UTR|NFATC2_ENST00000610033.1_3'UTR|NFATC2_ENST00000609943.1_Missense_Mutation_p.T905M|NFATC2_ENST00000414705.1_3'UTR NM_001258297.1|NM_173091.3 NP_001245226.1|NP_775114.1 Q13469 NFAC2_HUMAN nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2 925 B cell receptor signaling pathway|positive regulation of B cell proliferation|response to DNA damage stimulus|response to drug actin cytoskeleton|nucleus|plasma membrane protein binding|sequence-specific DNA binding transcription factor activity EWSR1/NFATC2(9) breast(2)|endometrium(7)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1) 53 Hepatocellular(150;0.248) CTTCTTTTACGTCTGATTTCT 0.493000 18 36 0 0 1 0 0 CSMD3 114788 broad.mit.edu 37 8 113308061 113308061 + Splice_Site SNP C C T TCGA-HQ-A2OF-01A-11D-A26M-08 TCGA-HQ-A2OF-10B-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18987f5d-2351-4308-bad2-84e5cd0bf9e7 6f03f9f2-dd98-4dc0-882d-0c495fb45a4a g.chr8:113308061C>T ENST00000297405.5 - 54 8859 c.e54+1 CSMD3_ENST00000455883.2_Splice_Site|CSMD3_ENST00000343508.3_Splice_Site|CSMD3_ENST00000352409.3_Splice_Site NM_198123.1 NP_937756.1 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 integral to membrane|plasma membrane breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7) 646 TGCTTACTTACGCACACAGGA 0.353000 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 4 17 0 0 1 0 0 LOC101929950 101929950 broad.mit.edu 37 17 36365080 36365080 + Missense_Mutation SNP C C G TCGA-HQ-A2OF-01A-11D-A26M-08 TCGA-HQ-A2OF-10B-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18987f5d-2351-4308-bad2-84e5cd0bf9e7 6f03f9f2-dd98-4dc0-882d-0c495fb45a4a g.chr17:36365080C>G ENST00000312412.4 - 4 514 c.515G>C c.(514-516)cGc>cCc p.R172P RP11-1407O15.2_ENST00000544906.1_Missense_Mutation_p.R17P kidney(1)|lung(3) 4 AGCAGCATAGCGCACCTCTCC 0.368000 43 127 0 0 1 0 0 TBC1D10C 374403 broad.mit.edu 37 11 67177176 67177176 + Missense_Mutation SNP C C T TCGA-HQ-A2OF-01A-11D-A26M-08 TCGA-HQ-A2OF-10B-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18987f5d-2351-4308-bad2-84e5cd0bf9e7 6f03f9f2-dd98-4dc0-882d-0c495fb45a4a g.chr11:67177176C>T ENST00000312390.5 + 10 1321 c.1292C>T c.(1291-1293)cCc>cTc p.P431L TBC1D10C_ENST00000542590.1_Missense_Mutation_p.P431L|TBC1D10C_ENST00000526387.1_3'UTR NM_198517.3 NP_940919.1 Q8IV04 TB10C_HUMAN TBC1 domain family, member 10C 431 Interaction with calcineurin. intracellular Rab GTPase activator activity cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1) 16 BRCA - Breast invasive adenocarcinoma(15;2.26e-06) ATCGAGGGGCCCCCCAGGCCC 0.682000 12 11 0 0 1 0 0 T 6862 broad.mit.edu 37 6 166571918 166571918 + Missense_Mutation SNP G G A TCGA-HQ-A2OF-01A-11D-A26M-08 TCGA-HQ-A2OF-10B-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18987f5d-2351-4308-bad2-84e5cd0bf9e7 6f03f9f2-dd98-4dc0-882d-0c495fb45a4a g.chr6:166571918G>A ENST00000296946.2 - 9 1661 c.1193C>T c.(1192-1194)tCc>tTc p.S398F T_ENST00000366871.3_Missense_Mutation_p.S340F NM_003181.3 NP_003172.1 O15178 BRAC_HUMAN T, brachyury homolog (mouse) 398 anterior/posterior axis specification, embryo|mesoderm development|primitive streak formation nucleus sequence-specific DNA binding transcription factor activity autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(23)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 39 Prostate(117;4.48e-07)|Ovarian(120;1.78e-06)|Breast(66;2.54e-06)|Lung SC(201;0.0225)|Esophageal squamous(34;0.0559) OV - Ovarian serous cystadenocarcinoma(33;1.09e-113)|GBM - Glioblastoma multiforme(31;1.51e-108)|BRCA - Breast invasive adenocarcinoma(81;8.45e-09)|LUAD - Lung adenocarcinoma(999;0.0407) GTACAGTGGGGATCCCGAGGA 0.692000 Chordoma, Familial Clustering of 26 31 0 0 1 0 0 MBTD1 54799 broad.mit.edu 37 17 49270371 49270371 + Missense_Mutation SNP G G A TCGA-HQ-A2OF-01A-11D-A26M-08 TCGA-HQ-A2OF-10B-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18987f5d-2351-4308-bad2-84e5cd0bf9e7 6f03f9f2-dd98-4dc0-882d-0c495fb45a4a g.chr17:49270371G>A ENST00000586178.1 - 15 1805 c.1462C>T c.(1462-1464)Cca>Tca p.P488S MBTD1_ENST00000415868.1_Missense_Mutation_p.P488S|MBTD1_ENST00000376381.2_3'UTR NM_017643.2 NP_060113.2 Q05BQ5 MBTD1_HUMAN mbt domain containing 1 488 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus zinc ion binding breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(2)|skin(1)|urinary_tract(1) 12 BRCA - Breast invasive adenocarcinoma(22;1.54e-08) CCGTGATTTGGAACATCCTGA 0.378000 20 129 0 0 1 0 0 RSBN1L 222194 broad.mit.edu 37 7 77325843 77325843 + Silent SNP C C T TCGA-HQ-A2OF-01A-11D-A26M-08 TCGA-HQ-A2OF-10B-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18987f5d-2351-4308-bad2-84e5cd0bf9e7 6f03f9f2-dd98-4dc0-882d-0c495fb45a4a g.chr7:77325843C>T ENST00000334955.8 + 1 84 c.57C>T c.(55-57)acC>acT p.T19T NM_198467.2 NP_940869.2 Q6PCB5 RSBNL_HUMAN round spermatid basic protein 1-like nucleus central_nervous_system(1)|endometrium(12)|large_intestine(2)|lung(8)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 30 CCACCGCCACCGTCTCGGAGA 0.647000 15 131 0 0 1 0 0 SNHG14 104472715 broad.mit.edu 37 15 25490518 25490518 + RNA SNP T T C rs1969608 by1000genomes TCGA-HQ-A2OF-01A-11D-A26M-08 TCGA-HQ-A2OF-10B-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18987f5d-2351-4308-bad2-84e5cd0bf9e7 6f03f9f2-dd98-4dc0-882d-0c495fb45a4a g.chr15:25490518T>C ENST00000453082.2 + 0 2669 NR_003343.1 ACCCCCAGTGTGCTGAAGCTC 0.622000 4 37 0 0 1 0 0 HOXB6 3216 broad.mit.edu 37 17 46675476 46675476 + Missense_Mutation SNP T T G TCGA-HQ-A2OF-01A-11D-A26M-08 TCGA-HQ-A2OF-10B-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18987f5d-2351-4308-bad2-84e5cd0bf9e7 6f03f9f2-dd98-4dc0-882d-0c495fb45a4a g.chr17:46675476T>G ENST00000484302.2 - 2 659 c.37A>C c.(37-39)Act>Cct p.T13P HOXB-AS3_ENST00000460041.1_RNA|HOXB-AS3_ENST00000481995.1_RNA|HOXB-AS3_ENST00000477144.1_RNA|HOXB-AS3_ENST00000487849.3_RNA|HOXB-AS3_ENST00000466037.2_RNA|HOXB6_ENST00000225648.3_Missense_Mutation_p.T13P|HOXB-AS3_ENST00000492897.3_RNA|HOXB-AS3_ENST00000476204.1_RNA|HOXB-AS3_ENST00000429755.4_RNA|HOXB-AS3_ENST00000474040.1_RNA|HOXB-AS3_ENST00000465846.2_RNA|HOXB-AS3_ENST00000467155.2_RNA|HOXB-AS3_ENST00000474324.1_RNA|HOXB3_ENST00000552000.2_Intron|HOXB-AS3_ENST00000480872.1_RNA P17509 HXB6_HUMAN homeobox B6 13 anterior/posterior axis specification, embryo nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|kidney(1)|large_intestine(1)|lung(4) 7 CTGGCCAGAGTGACGGGGAAG 0.622000 10 121 0 0 1 0 0 CUL4B 8450 broad.mit.edu 37 X 119691789 119691789 + Missense_Mutation SNP T T A TCGA-HQ-A2OF-01A-11D-A26M-08 TCGA-HQ-A2OF-10B-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18987f5d-2351-4308-bad2-84e5cd0bf9e7 6f03f9f2-dd98-4dc0-882d-0c495fb45a4a g.chrX:119691789T>A ENST00000371322.5 - 2 723 c.662A>T c.(661-663)gAa>gTa p.E221V CUL4B_ENST00000336592.6_Missense_Mutation_p.E226V|CUL4B_ENST00000404115.3_Missense_Mutation_p.E239V NM_001079872.1 NP_001073341.1 Q13620 CUL4B_HUMAN cullin 4B 239 cell cycle|DNA repair|ubiquitin-dependent protein catabolic process Cul4B-RING ubiquitin ligase complex|nucleus protein binding|ubiquitin protein ligase binding NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 CTGGTAGAGTTCTTCTAAATT 0.323000 4 1 0 0 1 0 0 TP53 7157 broad.mit.edu 37 17 7577538 7577538 + Missense_Mutation SNP C C T rs11540652 TCGA-HQ-A2OF-01A-11D-A26M-08 TCGA-HQ-A2OF-10B-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18987f5d-2351-4308-bad2-84e5cd0bf9e7 6f03f9f2-dd98-4dc0-882d-0c495fb45a4a g.chr17:7577538C>T ENST00000420246.2 - 7 875 c.743G>A c.(742-744)cGg>cAg p.R248Q TP53_ENST00000445888.2_Missense_Mutation_p.R248Q|TP53_ENST00000269305.4_Missense_Mutation_p.R248Q|TP53_ENST00000413465.2_Missense_Mutation_p.R248Q|TP53_ENST00000455263.2_Missense_Mutation_p.R248Q|TP53_ENST00000359597.4_Missense_Mutation_p.R248Q NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 248 Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain. NR -> IP (in a sporadic cancer; somatic mutation).|NR -> KW (in sporadic cancers; somatic mutation).|R -> C (in a sporadic cancer; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs11540652).|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.R248Q(580)|p.R248L(75)|p.R248P(19)|p.R155Q(18)|p.0?(8)|p.?(5)|p.R155L(3)|p.R155P(2)|p.N247_R248delNR(2)|p.R248fs*16(2)|p.M246_P250delMNRRP(2)|p.R248_P250delRRP(1)|p.unknown(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R249fs*96(1)|p.R248fs*>39(1)|p.R248C(1)|p.G245fs*14(1)|p.N247_R248>IP(1) NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79) 24185 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) GATGGGCCTCCGGTTCATGCC 0.572000 R248Q(BL41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CA46_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(EM2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(HCC1143_BREAST)|R248Q(HCC70_BREAST)|R248Q(HEC1A_ENDOMETRIUM)|R248Q(HS683_CENTRAL_NERVOUS_SYSTEM)|R248Q(HSC4_UPPER_AERODIGESTIVE_TRACT)|R248Q(KASUMI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KYO1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KYSE150_OESOPHAGUS)|R248Q(MOLM6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NAMALWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NB4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NCIH211_LUNG)|R248Q(NCIN87_STOMACH)|R248Q(NIHOVCAR3_OVARY)|R248Q(NUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(P12ICHIKAWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(PANC0203_PANCREAS)|R248Q(PC14_LUNG)|R248Q(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(RT112_URINARY_TRACT)|R248Q(SEM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SF295_CENTRAL_NERVOUS_SYSTEM)|R248Q(SKUT1_SOFT_TISSUE)|R248Q(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SW1463_LARGE_INTESTINE)|R248Q(WSUDLCL2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE) 111 """Mis, N, F""" """breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types""" """breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types""" Other conserved DNA damage response genes Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 25 7 0 0 1 0 0 GPATCH8 23131 broad.mit.edu 37 17 42478243 42478243 + Missense_Mutation SNP T T G TCGA-HQ-A2OF-01A-11D-A26M-08 TCGA-HQ-A2OF-10B-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18987f5d-2351-4308-bad2-84e5cd0bf9e7 6f03f9f2-dd98-4dc0-882d-0c495fb45a4a g.chr17:42478243T>G ENST00000434000.1 - 9 1250 c.968A>C c.(967-969)cAc>cCc p.H323P GPATCH8_ENST00000591680.1_Missense_Mutation_p.H401P Q9UKJ3 GPTC8_HUMAN G patch domain containing 8 401 intracellular nucleic acid binding|zinc ion binding breast(4)|endometrium(7)|kidney(6)|large_intestine(4)|liver(2)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 50 Prostate(33;0.0181) BRCA - Breast invasive adenocarcinoma(366;0.206) TACTTTGCAGTGTGCTGGGGG 0.438000 OREG0024461 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 31 88 0 0 1 0 0 PCDHA7 56141 broad.mit.edu 37 5 140214396 140214396 + Missense_Mutation SNP C C T TCGA-HQ-A2OF-01A-11D-A26M-08 TCGA-HQ-A2OF-10B-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18987f5d-2351-4308-bad2-84e5cd0bf9e7 6f03f9f2-dd98-4dc0-882d-0c495fb45a4a g.chr5:140214396C>T ENST00000525929.1 + 1 428 c.428C>T c.(427-429)gCg>gTg p.A143V PCDHA3_ENST00000522353.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA7_ENST00000378125.3_Missense_Mutation_p.A143V|PCDHA6_ENST00000529310.1_Intron NM_018910.2 NP_061733.1 p.A143V(2) NS(2)|biliary_tract(1)|breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 63 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CTGTTCATCGCGGAATCCAGG 0.567000 10 26 0 0 1 0 0 HTR1A 3350 broad.mit.edu 37 5 63257088 63257088 + Silent SNP G G A TCGA-HQ-A2OF-01A-11D-A26M-08 TCGA-HQ-A2OF-10B-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18987f5d-2351-4308-bad2-84e5cd0bf9e7 6f03f9f2-dd98-4dc0-882d-0c495fb45a4a g.chr5:63257088G>A ENST00000323865.3 - 1 692 c.459C>T c.(457-459)gcC>gcT p.A153A RP11-158J3.2_ENST00000502882.1_RNA NM_000524.3 NP_000515.2 P08908 5HT1A_HUMAN 5-hydroxytryptamine (serotonin) receptor 1A, G protein-coupled 153 RAA -> PR (in Ref. 1; AAA36440/CAA31908). behavior|positive regulation of cell proliferation integral to plasma membrane serotonin receptor activity cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(29)|ovary(2)|pancreas(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1) 56 Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0575)|Colorectal(97;0.234) Lung(70;0.105) Alprenolol(DB00866)|Aripiprazole(DB01238)|Buspirone(DB00490)|Clozapine(DB00363)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Fluvoxamine(DB00176)|Lisuride(DB00589)|Methysergide(DB00247)|Mirtazapine(DB00370)|Pindolol(DB00960)|Propranolol(DB00571)|Quetiapine(DB01224)|Sertraline(DB01104)|Tegaserod(DB01079)|Trazodone(DB00656)|Venlafaxine(DB00285)|Ziprasidone(DB00246) TGAGCGCAGCGGCGCGCCGGG 0.647000 41 5 0 0 1 0 0 MMP2 4313 broad.mit.edu 37 16 55518029 55518029 + Missense_Mutation SNP G G A TCGA-HQ-A2OF-01A-11D-A26M-08 TCGA-HQ-A2OF-10B-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18987f5d-2351-4308-bad2-84e5cd0bf9e7 6f03f9f2-dd98-4dc0-882d-0c495fb45a4a g.chr16:55518029G>A ENST00000219070.4 + 3 991 c.482G>A c.(481-483)cGa>cAa p.R161Q MMP2_ENST00000570308.1_Missense_Mutation_p.R85Q|MMP2_ENST00000437642.2_Missense_Mutation_p.R111Q|MMP2_ENST00000543485.1_Missense_Mutation_p.R85Q NM_004530.4 NP_004521.1 P08253 MMP2_HUMAN matrix metallopeptidase 2 (gelatinase A, 72kDa gelatinase, 72kDa type IV collagenase) 161 Collagenase-like 1. angiogenesis|collagen catabolic process|proteolysis extracellular space|membrane|nucleus|proteinaceous extracellular matrix metalloendopeptidase activity|protein binding|zinc ion binding p.R161Q(2) NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|liver(2)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 58 Renal(780;0.00183)|Breast(268;0.00354)|Hepatocellular(780;0.00826)|all_neural(199;0.0189) UCEC - Uterine corpus endometrioid carcinoma (183;0.0185)|all cancers(182;7.16e-45)|Epithelial(162;5.26e-37)|GBM - Glioblastoma multiforme(240;9e-08)|Kidney(780;0.00227)|BRCA - Breast invasive adenocarcinoma(181;0.00786) Marimastat(DB00786)|Sulindac(DB00605) CGGTTTTCTCGAATCCATGAT 0.547000 13 45 0 0 1 0 0 ANKRD30BP2 149992 broad.mit.edu 37 21 14414855 14414855 + RNA SNP A A G rs141732548 by1000genomes TCGA-HQ-A2OF-01A-11D-A26M-08 TCGA-HQ-A2OF-10B-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18987f5d-2351-4308-bad2-84e5cd0bf9e7 6f03f9f2-dd98-4dc0-882d-0c495fb45a4a g.chr21:14414855A>G ENST00000507941.1 + 0 95 GCCAATGGCCATGCAGAAGTA 0.448000 3 20 0 0 1 0 0 MRPL10 124995 broad.mit.edu 37 17 45901604 45901604 + Silent SNP C C T TCGA-HQ-A2OF-01A-11D-A26M-08 TCGA-HQ-A2OF-10B-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18987f5d-2351-4308-bad2-84e5cd0bf9e7 6f03f9f2-dd98-4dc0-882d-0c495fb45a4a g.chr17:45901604C>T ENST00000290208.7 - 5 1235 c.783G>A c.(781-783)ggG>ggA p.G261G MRPL10_ENST00000351111.2_Silent_p.G251G|MRPL10_ENST00000414011.1_Silent_p.G261G Q7Z7H8 RM10_HUMAN mitochondrial ribosomal protein L10 251 ribosome biogenesis|translation mitochondrial large ribosomal subunit structural constituent of ribosome endometrium(3)|large_intestine(1)|lung(3)|ovary(1) 8 GATCTGGCTTCCCATTGGCCG 0.572000 21 225 0 0 1 0 0 NTSR2 23620 broad.mit.edu 37 2 11802136 11802136 + Silent SNP G G A rs148062399 byFrequency TCGA-HQ-A2OF-01A-11D-A26M-08 TCGA-HQ-A2OF-10B-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18987f5d-2351-4308-bad2-84e5cd0bf9e7 6f03f9f2-dd98-4dc0-882d-0c495fb45a4a g.chr2:11802136G>A ENST00000306928.5 - 2 889 c.855C>T c.(853-855)gaC>gaT p.D285D NM_012344.3 NP_036476 O95665 NTR2_HUMAN neurotensin receptor 2 285 sensory perception integral to plasma membrane breast(1)|large_intestine(7)|lung(7)|prostate(1)|urinary_tract(1) 17 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) Epithelial(75;0.129)|OV - Ovarian serous cystadenocarcinoma(76;0.24) Levocabastine(DB01106) TCCGGCGCACGTCTTTATGTC 0.582000 52 69 0 0 1 0 0 BMP5 653 broad.mit.edu 37 6 55739454 55739454 + Silent SNP A A T TCGA-HQ-A2OF-01A-11D-A26M-08 TCGA-HQ-A2OF-10B-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18987f5d-2351-4308-bad2-84e5cd0bf9e7 6f03f9f2-dd98-4dc0-882d-0c495fb45a4a g.chr6:55739454A>T ENST00000370830.3 - 1 908 c.210T>A c.(208-210)ccT>ccA p.P70P BMP5_ENST00000446683.2_Silent_p.P70P NM_021073.2 NP_066551.1 P22003 BMP5_HUMAN bone morphogenetic protein 5 70 cartilage development|cell differentiation|growth|ossification extracellular space BMP receptor binding|cytokine activity|growth factor activity cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1) 45 Lung NSC(77;0.0462) LUSC - Lung squamous cell carcinoma(124;0.181) CTTGTTTTCCAGGTGAAAATG 0.438000 32 52 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179590531 179590531 + Nonsense_Mutation SNP C C A TCGA-HQ-A2OF-01A-11D-A26M-08 TCGA-HQ-A2OF-10B-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18987f5d-2351-4308-bad2-84e5cd0bf9e7 6f03f9f2-dd98-4dc0-882d-0c495fb45a4a g.chr2:179590531C>A ENST00000589042.1 - 70 20742 c.20518G>T c.(20518-20520)Gga>Tga p.G6840* TTN_ENST00000591111.1_Nonsense_Mutation_p.G6523*|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA|RP11-171I2.1_ENST00000590024.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000342992.6_Nonsense_Mutation_p.G5596* NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 6523 Ig-like 50. 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) GTATCACTTCCCACTTCATTC 0.363000 14 48 3.27435e-08 3.46584e-08 1 1 0 TRBV6-7 28600 broad.mit.edu 37 7 142143691 142143691 + RNA SNP G G A TCGA-HQ-A2OF-01A-11D-A26M-08 TCGA-HQ-A2OF-10B-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18987f5d-2351-4308-bad2-84e5cd0bf9e7 6f03f9f2-dd98-4dc0-882d-0c495fb45a4a g.chr7:142143691G>A ENST00000390373.2 - 0 304 AGTCTGAGAGGGAGCAGCTGA 0.527000 32 80 0 0 1 0 0 CHIA 27159 broad.mit.edu 37 1 111861169 111861169 + Missense_Mutation SNP G G A TCGA-HQ-A2OF-01A-11D-A26M-08 TCGA-HQ-A2OF-10B-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18987f5d-2351-4308-bad2-84e5cd0bf9e7 6f03f9f2-dd98-4dc0-882d-0c495fb45a4a g.chr1:111861169G>A ENST00000369740.1 + 9 887 c.784G>A c.(784-786)Gtt>Att p.V262I RP5-1125M8.2_ENST00000426321.1_RNA|CHIA_ENST00000343320.6_Missense_Mutation_p.V262I|CHIA_ENST00000451398.2_Missense_Mutation_p.V101I|CHIA_ENST00000483391.1_Missense_Mutation_p.V101I|CHIA_ENST00000430615.1_Missense_Mutation_p.V154I|CHIA_ENST00000353665.6_Missense_Mutation_p.V101I NM_001258001.1|NM_201653.3 NP_001244930.1|NP_970615.2 Q9BZP6 CHIA_HUMAN chitinase, acidic 262 apoptosis|cell wall chitin metabolic process|chitin catabolic process|digestion|immune response|positive regulation of chemokine secretion|production of molecular mediator involved in inflammatory response|response to acid|response to fungus cytoplasm|extracellular space cation binding|chitin binding|chitinase activity|kinase binding|lysozyme activity|sugar binding p.V154I(1)|p.V262I(1) central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|skin(1) 23 all_cancers(81;3.23e-05)|all_epithelial(167;1.2e-05)|all_lung(203;0.000154)|Lung NSC(277;0.000304) Colorectal(144;0.0115)|Lung(183;0.0292)|COAD - Colon adenocarcinoma(174;0.0314)|all cancers(265;0.0477)|Epithelial(280;0.0918)|LUSC - Lung squamous cell carcinoma(189;0.154) GAAGCTCATCGTTGGATTCCC 0.537000 22 40 0 0 1 0 0 CD46 4179 broad.mit.edu 37 1 207966893 207966893 + Missense_Mutation SNP C C T TCGA-HQ-A2OF-01A-11D-A26M-08 TCGA-HQ-A2OF-10B-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18987f5d-2351-4308-bad2-84e5cd0bf9e7 6f03f9f2-dd98-4dc0-882d-0c495fb45a4a g.chr1:207966893C>T ENST00000322875.4 + 13 1313 c.1157C>T c.(1156-1158)aCt>aTt p.T386I CD46_ENST00000441839.2_Missense_Mutation_p.L350F|CD46_ENST00000361067.1_Missense_Mutation_p.T372I|CD46_ENST00000367047.1_Missense_Mutation_p.T323I|CD46_ENST00000358170.2_3'UTR|CD46_ENST00000469535.1_3'UTR|CD46_ENST00000360212.2_Missense_Mutation_p.T342I|CD46_ENST00000322918.5_Missense_Mutation_p.L335F|CD46_ENST00000354848.1_Missense_Mutation_p.T371I|CD46_ENST00000367041.1_3'UTR|CD46_ENST00000357714.1_Missense_Mutation_p.T356I|CD46_ENST00000480003.1_Missense_Mutation_p.T357I|CD46_ENST00000367042.1_3'UTR NM_172359.2 NP_758869.1 P15529 MCP_HUMAN CD46 molecule, complement regulatory protein 0 complement activation, classical pathway|innate immune response|interspecies interaction between organisms|single fertilization inner acrosomal membrane|integral to plasma membrane protein binding|receptor activity breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(6)|prostate(1)|skin(1) 19 GAATATGCCACTTACCAGACT 0.378000 6 36 0 0 1 0 0 PLEC 5339 broad.mit.edu 37 8 144999971 144999971 + Missense_Mutation SNP C C A TCGA-HQ-A2OF-01A-11D-A26M-08 TCGA-HQ-A2OF-10B-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18987f5d-2351-4308-bad2-84e5cd0bf9e7 6f03f9f2-dd98-4dc0-882d-0c495fb45a4a g.chr8:144999971C>A ENST00000322810.4 - 31 4706 c.4537G>T c.(4537-4539)Gcc>Tcc p.A1513S PLEC_ENST00000354958.2_Missense_Mutation_p.A1354S|PLEC_ENST00000398774.2_Missense_Mutation_p.A1344S|PLEC_ENST00000357649.2_Missense_Mutation_p.A1380S|PLEC_ENST00000354589.3_Missense_Mutation_p.A1376S|PLEC_ENST00000345136.3_Missense_Mutation_p.A1376S|PLEC_ENST00000527096.1_Missense_Mutation_p.A1399S|PLEC_ENST00000356346.3_Missense_Mutation_p.A1362S|PLEC_ENST00000436759.2_Missense_Mutation_p.A1403S NM_201380.2 NP_958782.1 Q15149 PLEC_HUMAN plectin 1513 Central fibrous rod domain. cellular component disassembly involved in apoptosis|hemidesmosome assembly cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma actin binding|structural constituent of muscle NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10) 137 TGCGCCTCGGCCAGCTGCCGC 0.731000 3 17 0.004672 0.00477758 1 1 0 TANK 10010 broad.mit.edu 37 2 162092023 162092023 + Silent SNP G G A TCGA-HQ-A2OF-01A-11D-A26M-08 TCGA-HQ-A2OF-10B-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18987f5d-2351-4308-bad2-84e5cd0bf9e7 6f03f9f2-dd98-4dc0-882d-0c495fb45a4a g.chr2:162092023G>A ENST00000392749.2 + 8 1511 c.1272G>A c.(1270-1272)gaG>gaA p.E424E AC009299.2_ENST00000445372.1_RNA|AC009299.2_ENST00000421122.2_RNA|TANK_ENST00000259075.2_Silent_p.E424E|TANK_ENST00000405852.1_3'UTR NM_001199135.1 NP_001186064.1 Q92844 TANK_HUMAN TRAF family member-associated NFKB activator 424 cytosol metal ion binding|protein binding breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(7)|ovary(1)|prostate(1) 21 TCAATGGAGAGACTTAAGACA 0.343000 15 41 0 0 1 0 0 GABRB3 2562 broad.mit.edu 37 15 26793076 26793076 + Missense_Mutation SNP C C T TCGA-HQ-A2OF-01A-11D-A26M-08 TCGA-HQ-A2OF-10B-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18987f5d-2351-4308-bad2-84e5cd0bf9e7 6f03f9f2-dd98-4dc0-882d-0c495fb45a4a g.chr15:26793076C>T ENST00000541819.2 - 10 1556 c.1454G>A c.(1453-1455)cGg>cAg p.R485Q GABRB3_ENST00000311550.5_Missense_Mutation_p.R429Q|GABRB3_ENST00000545868.1_Missense_Mutation_p.R344Q|GABRB3_ENST00000299267.4_Missense_Mutation_p.R429Q|GABRB3_ENST00000400188.3_Missense_Mutation_p.R358Q P28472 GBRB3_HUMAN gamma-aminobutyric acid (GABA) A receptor, beta 3 429 synaptic transmission cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity p.R429Q(1) NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(41)|ovary(1)|skin(1)|upper_aerodigestive_tract(2) 68 all_cancers(20;1.89e-22)|all_lung(180;6.35e-15)|Breast(32;0.000279)|Colorectal(260;0.232) all cancers(64;1.46e-07)|Epithelial(43;2.89e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0251)|COAD - Colon adenocarcinoma(236;0.235)|Lung(196;0.243) Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683) AGACCTCCTCCGTAGATGGGT 0.488000 20 8 0 0 1 0 0 JMJD1C 221037 broad.mit.edu 37 10 64975088 64975088 + Nonsense_Mutation SNP G G C TCGA-HQ-A2OF-01A-11D-A26M-08 TCGA-HQ-A2OF-10B-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18987f5d-2351-4308-bad2-84e5cd0bf9e7 6f03f9f2-dd98-4dc0-882d-0c495fb45a4a g.chr10:64975088G>C ENST00000399262.2 - 7 1168 c.950C>G c.(949-951)tCa>tGa p.S317* JMJD1C_ENST00000542921.1_Nonsense_Mutation_p.S135*|JMJD1C_ENST00000399251.1_Nonsense_Mutation_p.S98*|JMJD1C_ENST00000402544.1_Nonsense_Mutation_p.S98* NM_032776.1 NP_116165.1 Q15652 JHD2C_HUMAN jumonji domain containing 1C 317 blood coagulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleoplasm histone demethylase activity (H3-K9 specific)|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|thyroid hormone receptor binding breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(9)|lung(27)|ovary(6)|prostate(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(3) 77 Prostate(12;0.0119)|all_hematologic(501;0.191) ACTGCTATCTGAGCCCTTCCT 0.413000 19 24 0 0 1 0 0 SLC26A9 115019 broad.mit.edu 37 1 205899136 205899136 + Missense_Mutation SNP C C T TCGA-HQ-A2OF-01A-11D-A26M-08 TCGA-HQ-A2OF-10B-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18987f5d-2351-4308-bad2-84e5cd0bf9e7 6f03f9f2-dd98-4dc0-882d-0c495fb45a4a g.chr1:205899136C>T ENST00000367135.3 - 6 714 c.601G>A c.(601-603)Gag>Aag p.E201K SLC26A9_ENST00000367134.2_Missense_Mutation_p.E201K|SLC26A9_ENST00000340781.4_Missense_Mutation_p.E201K NM_052934.3 NP_443166.1 Q7LBE3 S26A9_HUMAN solute carrier family 26 (anion exchanger), member 9 201 integral to membrane chloride channel activity|secondary active sulfate transmembrane transporter activity NS(1)|breast(3)|endometrium(11)|kidney(1)|large_intestine(6)|lung(17)|ovary(1)|skin(7)|urinary_tract(5) 52 Breast(84;0.201) BRCA - Breast invasive adenocarcinoma(75;0.0458) ATGAAGGACTCGGAGAGGTAG 0.577000 25 16 0 0 1 0 0 POLR2A 5430 broad.mit.edu 37 17 7412464 7412464 + Missense_Mutation SNP G G A TCGA-HQ-A2OF-01A-11D-A26M-08 TCGA-HQ-A2OF-10B-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18987f5d-2351-4308-bad2-84e5cd0bf9e7 6f03f9f2-dd98-4dc0-882d-0c495fb45a4a g.chr17:7412464G>A ENST00000322644.6 + 21 4066 c.3667G>A c.(3667-3669)Gac>Aac p.D1223N NM_000937.4 NP_000928 P24928 RPB1_HUMAN polymerase (RNA) II (DNA directed) polypeptide A, 220kDa 1223 mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction DNA-directed RNA polymerase II, core complex DNA binding|DNA-directed RNA polymerase activity|metal ion binding|RNA-directed RNA polymerase activity|ubiquitin protein ligase binding breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(17)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 50 Prostate(122;0.173) GCACATGACTGACCGGAAGCT 0.562000 8 4 0 0 1 0 0 PRKDC 5591 broad.mit.edu 37 8 48848390 48848390 + Missense_Mutation SNP C C A TCGA-HQ-A2OF-01A-11D-A26M-08 TCGA-HQ-A2OF-10B-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18987f5d-2351-4308-bad2-84e5cd0bf9e7 6f03f9f2-dd98-4dc0-882d-0c495fb45a4a g.chr8:48848390C>A ENST00000314191.2 - 13 1405 c.1349G>T c.(1348-1350)aGt>aTt p.S450I PRKDC_ENST00000523565.1_5'UTR|PRKDC_ENST00000338368.3_Missense_Mutation_p.S450I NM_006904.6 NP_008835.5 P78527 PRKDC_HUMAN protein kinase, DNA-activated, catalytic polypeptide 450 cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7) 147 all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391) CATTTTTGGACTGTACTGTGG 0.483000 Non-homologous end-joining 8 79 4.68919e-08 4.93455e-08 1 1 0 TECPR1 25851 broad.mit.edu 37 7 97862272 97862272 + Missense_Mutation SNP G G A TCGA-HQ-A2OF-01A-11D-A26M-08 TCGA-HQ-A2OF-10B-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18987f5d-2351-4308-bad2-84e5cd0bf9e7 6f03f9f2-dd98-4dc0-882d-0c495fb45a4a g.chr7:97862272G>A ENST00000447648.2 - 12 1984 c.1685C>T c.(1684-1686)tCg>tTg p.S562L TECPR1_ENST00000379795.3_Missense_Mutation_p.S563L|TECPR1_ENST00000542604.1_Missense_Mutation_p.S492L Q7Z6L1 TCPR1_HUMAN tectonin beta-propeller repeat containing 1 562 integral to membrane protein binding central_nervous_system(2)|endometrium(8)|kidney(1)|large_intestine(1)|lung(9)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 26 CATGTGTACCGAGGAGGACAG 0.667000 25 24 0 0 1 0 0 TEKT3 64518 broad.mit.edu 37 17 15234356 15234356 + Missense_Mutation SNP G G A TCGA-HQ-A2OF-01A-11D-A26M-08 TCGA-HQ-A2OF-10B-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18987f5d-2351-4308-bad2-84e5cd0bf9e7 6f03f9f2-dd98-4dc0-882d-0c495fb45a4a g.chr17:15234356G>A ENST00000395930.1 - 3 733 c.547C>T c.(547-549)Cgg>Tgg p.R183W TEKT3_ENST00000338696.2_Missense_Mutation_p.R183W NM_031898.2 NP_114104.1 Q9BXF9 TEKT3_HUMAN tektin 3 183 microtubule cytoskeleton organization cilium axoneme|flagellar axoneme|microtubule endometrium(1)|kidney(3)|large_intestine(5)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1) 23 UCEC - Uterine corpus endometrioid carcinoma (92;0.0877) ATCAAAGCCCGCTCCAGTCTT 0.393000 3 5 0 0 1 0 0 NID1 4811 broad.mit.edu 37 1 236148686 236148686 + Silent SNP A A G TCGA-HQ-A2OF-01A-11D-A26M-08 TCGA-HQ-A2OF-10B-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18987f5d-2351-4308-bad2-84e5cd0bf9e7 6f03f9f2-dd98-4dc0-882d-0c495fb45a4a g.chr1:236148686A>G ENST00000264187.6 - 15 3130 c.3048T>C c.(3046-3048)atT>atC p.I1016I NID1_ENST00000366595.3_Silent_p.I883I NM_002508.2 NP_002499.2 P14543 NID1_HUMAN nidogen 1 1016 cell-matrix adhesion basement membrane calcium ion binding breast(4)|endometrium(9)|kidney(1)|large_intestine(23)|lung(20)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(1) 66 Ovarian(103;0.0544)|Breast(184;0.23) all_cancers(173;0.00491)|Prostate(94;0.184)|Acute lymphoblastic leukemia(190;0.229) OV - Ovarian serous cystadenocarcinoma(106;0.00162) Becaplermin(DB00102)|Urokinase(DB00013) TACCTTGTCTAATGATGGTGG 0.453000 13 32 0 0 1 0 0 KRTAP27-1 643812 broad.mit.edu 37 21 31709941 31709941 + Missense_Mutation SNP G G A TCGA-HQ-A2OF-01A-11D-A26M-08 TCGA-HQ-A2OF-10B-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18987f5d-2351-4308-bad2-84e5cd0bf9e7 6f03f9f2-dd98-4dc0-882d-0c495fb45a4a g.chr21:31709941G>A ENST00000382835.2 - 1 71 c.46C>T c.(46-48)Cca>Tca p.P16S NM_001077711.1 NP_001071179.1 Q3LI81 KR271_HUMAN keratin associated protein 27-1 16 intermediate filament endometrium(2)|large_intestine(3)|lung(9)|ovary(2)|prostate(1)|skin(1) 18 GAGAGTGGTGGGGCATTGTGG 0.448000 18 33 0 0 1 0 0 TOP3A 7156 broad.mit.edu 37 17 18181318 18181318 + Missense_Mutation SNP C C T TCGA-HQ-A2OF-01A-11D-A26M-08 TCGA-HQ-A2OF-10B-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18987f5d-2351-4308-bad2-84e5cd0bf9e7 6f03f9f2-dd98-4dc0-882d-0c495fb45a4a g.chr17:18181318C>T ENST00000321105.5 - 18 2712 c.2498G>A c.(2497-2499)cGg>cAg p.R833Q TOP3A_ENST00000540524.1_Missense_Mutation_p.R363Q|TOP3A_ENST00000542570.1_Missense_Mutation_p.R738Q NM_004618.3 NP_004609.1 Q13472 TOP3A_HUMAN topoisomerase (DNA) III alpha 833 2 X 27 AA approximate repeats. DNA topological change|meiosis chromosome|PML body ATP binding|DNA topoisomerase type I activity|protein binding|zinc ion binding p.R833Q(1) breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(15)|ovary(1)|skin(6)|stomach(2)|urinary_tract(1) 36 AAAGAACTGCCGGCCCCGGTT 0.612000 10 19 0 0 1 0 0 FRMD6 122786 broad.mit.edu 37 14 52156598 52156598 + Missense_Mutation SNP G G A TCGA-HQ-A2OF-01A-11D-A26M-08 TCGA-HQ-A2OF-10B-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18987f5d-2351-4308-bad2-84e5cd0bf9e7 6f03f9f2-dd98-4dc0-882d-0c495fb45a4a g.chr14:52156598G>A ENST00000395718.2 + 2 329 c.44G>A c.(43-45)cGc>cAc p.R15H FRMD6_ENST00000356218.4_Missense_Mutation_p.R15H|FRMD6_ENST00000344768.5_Missense_Mutation_p.R15H NM_001267046.1|NM_152330.3 NP_001253975.1|NP_689543.1 Q96NE9 FRMD6_HUMAN FERM domain containing 6 15 cytoskeleton|mitochondrion|plasma membrane binding breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(7)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 all_epithelial(31;0.0163)|Breast(41;0.089) ATGCAAGACCGCCGCAGTGTG 0.423000 10 22 0 0 1 0 0 ZNF135 7694 broad.mit.edu 37 19 58579130 58579130 + Silent SNP C C T rs141591921 TCGA-HQ-A2OF-01A-11D-A26M-08 TCGA-HQ-A2OF-10B-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18987f5d-2351-4308-bad2-84e5cd0bf9e7 6f03f9f2-dd98-4dc0-882d-0c495fb45a4a g.chr19:58579130C>T ENST00000506786.1 + 5 1706 c.1152C>T c.(1150-1152)acC>acT p.T384T ZNF135_ENST00000401053.4_Silent_p.T450T|ZNF135_ENST00000359978.6_Intron|ZNF135_ENST00000313434.5_Silent_p.T426T|ZNF135_ENST00000511556.1_Silent_p.T438T|ZNF135_ENST00000439855.2_Silent_p.T426T B4DHH9 B4DHH9_HUMAN zinc finger protein 135 438 regulation of transcription, DNA-dependent intracellular nucleic acid binding|zinc ion binding p.T426T(1)|p.T450T(1) breast(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(26)|ovary(1)|skin(1)|urinary_tract(1) 41 Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.147)|Ovarian(87;0.156) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0161) CACTCCTGACCGAGCATCGGA 0.547000 13 22 0 0 1 0 0 NLRP13 126204 broad.mit.edu 37 19 56416347 56416347 + Missense_Mutation SNP G G A rs150517829 byFrequency TCGA-HQ-A2OF-01A-11D-A26M-08 TCGA-HQ-A2OF-10B-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18987f5d-2351-4308-bad2-84e5cd0bf9e7 6f03f9f2-dd98-4dc0-882d-0c495fb45a4a g.chr19:56416347G>A ENST00000588751.1 - 8 2603 c.2579C>T c.(2578-2580)gCg>gTg p.A860V NLRP13_ENST00000342929.3_Missense_Mutation_p.A860V Q86W25 NAL13_HUMAN NLR family, pyrin domain containing 13 860 ATP binding NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1) 109 Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218) GBM - Glioblastoma multiforme(193;0.0642) AGTCAGGGCCGCACACAATAG 0.463000 8 30 0 0 1 0 0 PSAPL1 768239 broad.mit.edu 37 4 7435266 7435266 + Silent SNP G G A TCGA-HQ-A2OF-01A-11D-A26M-08 TCGA-HQ-A2OF-10B-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18987f5d-2351-4308-bad2-84e5cd0bf9e7 6f03f9f2-dd98-4dc0-882d-0c495fb45a4a g.chr4:7435266G>A ENST00000319098.4 - 1 1434 c.1341C>T c.(1339-1341)ccC>ccT p.P447P SORCS2_ENST00000329016.9_Intron|SORCS2_ENST00000511199.1_Intron|SORCS2_ENST00000507866.2_Intron NM_001085382.1 NP_001078851.1 Q6NUJ1 SAPL1_HUMAN prosaposin-like 1 (gene/pseudogene) 447 Saposin B-type 4. sphingolipid metabolic process extracellular region|lysosome lung(4) 4 CAATGAGCACGGGCTCGTACT 0.627000 6 5 0 0 1 0 0 KCNN3 3782 broad.mit.edu 37 1 154794588 154794588 + Missense_Mutation SNP C C T TCGA-HQ-A2OF-01A-11D-A26M-08 TCGA-HQ-A2OF-10B-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18987f5d-2351-4308-bad2-84e5cd0bf9e7 6f03f9f2-dd98-4dc0-882d-0c495fb45a4a g.chr1:154794588C>T ENST00000271915.4 - 2 1321 c.1006G>A c.(1006-1008)Gcc>Acc p.A336T KCNN3_ENST00000358505.2_Missense_Mutation_p.A23T|KCNN3_ENST00000361147.4_Missense_Mutation_p.A31T NM_001204087.1|NM_002249.5 NP_001191016.1|NP_002240.3 Q9UGI6 KCNN3_HUMAN potassium intermediate/small conductance calcium-activated channel, subfamily N, member 3 integral to membrane calmodulin binding cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(11)|prostate(4)|skin(1) 28 all_lung(78;2.29e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.108)|all_neural(408;0.245) BRCA - Breast invasive adenocarcinoma(34;0.00819) GTGTGGTAGGCGATGATCAAG 0.552000 7 38 0 0 1 0 0 KDM7A 80853 broad.mit.edu 37 7 139796750 139796750 + Missense_Mutation SNP T T C rs78791610 by1000genomes TCGA-HQ-A2OF-01A-11D-A26M-08 TCGA-HQ-A2OF-10B-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18987f5d-2351-4308-bad2-84e5cd0bf9e7 6f03f9f2-dd98-4dc0-882d-0c495fb45a4a g.chr7:139796750T>C ENST00000397560.2 - 16 2211 c.2114A>G c.(2113-2115)aAc>aGc p.N705S JHDM1D_ENST00000006967.5_Missense_Mutation_p.N705S NM_030647.1 NP_085150.1 Q6ZMT4 KDM7_HUMAN 705 midbrain development|transcription, DNA-dependent nucleolus histone demethylase activity (H3-K27 specific)|histone demethylase activity (H3-K36 specific)|histone demethylase activity (H3-K9 specific)|histone demethylase activity (H4-K20 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|stomach(1) 22 Melanoma(164;0.0142) TTGAAGGAAGTTCCTCATCAC 0.343000 3 17 0 0 1 0 0 VCAN 1462 broad.mit.edu 37 5 82849269 82849269 + Missense_Mutation SNP G G A TCGA-HQ-A2OF-01A-11D-A26M-08 TCGA-HQ-A2OF-10B-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18987f5d-2351-4308-bad2-84e5cd0bf9e7 6f03f9f2-dd98-4dc0-882d-0c495fb45a4a g.chr5:82849269G>A ENST00000265077.3 + 11 10145 c.9580G>A c.(9580-9582)Gaa>Aaa p.E3194K VCAN_ENST00000513016.1_3'UTR|VCAN_ENST00000342785.4_Missense_Mutation_p.E1440K|VCAN_ENST00000512590.2_Missense_Mutation_p.E1392K|VCAN-AS1_ENST00000513899.1_RNA|VCAN_ENST00000343200.5_Missense_Mutation_p.E2207K|VCAN_ENST00000502527.2_Missense_Mutation_p.E453K|VCAN-AS1_ENST00000512090.1_RNA NM_004385.4 NP_004376.2 P13611 CSPG2_HUMAN versican 3194 C-type lectin. cell adhesion|cell recognition|glial cell migration extracellular space|proteinaceous extracellular matrix calcium ion binding|hyaluronic acid binding|sugar binding NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5) 190 Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142) OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29) GGATGCAGCTGAACGGGAATG 0.473000 19 27 0 0 1 0 0 DRD1 1812 broad.mit.edu 37 5 174869091 174869091 + Missense_Mutation SNP G G A TCGA-HQ-A2OF-01A-11D-A26M-08 TCGA-HQ-A2OF-10B-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18987f5d-2351-4308-bad2-84e5cd0bf9e7 6f03f9f2-dd98-4dc0-882d-0c495fb45a4a g.chr5:174869091G>A ENST00000393752.2 - 2 2004 c.1012C>T c.(1012-1014)Cgg>Tgg p.R338W NM_000794.3 NP_000785.1 P21728 DRD1_HUMAN dopamine receptor D1 338 activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|adult walking behavior|cerebral cortex GABAergic interneuron migration|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|mating behavior|positive regulation of cAMP biosynthetic process|positive regulation of cell migration|positive regulation of potassium ion transport|positive regulation of release of sequestered calcium ion into cytosol|positive regulation of synaptic transmission, glutamatergic|prepulse inhibition|response to drug|synapse assembly|visual learning endoplasmic reticulum membrane|membrane fraction protein binding endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 23 all_cancers(89;0.00895)|Renal(175;0.000159)|Lung NSC(126;0.00625)|all_lung(126;0.0104) Medulloblastoma(196;0.0208)|all_neural(177;0.0277)|all_hematologic(541;0.214) Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183) Acetophenazine(DB01063)|Amantadine(DB00915)|Apomorphine(DB00714)|Carphenazine(DB01038)|Chlorprothixene(DB01239)|Clozapine(DB00363)|Cocaine(DB00907)|Dopamine(DB00988)|Fenoldopam(DB00800)|Flupenthixol(DB00875)|Fluphenazine(DB00623)|Haloperidol(DB00502)|Levodopa(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Methylergonovine(DB00353)|Minaprine(DB00805)|Olanzapine(DB00334)|Pegademase bovine(DB00061)|Pergolide(DB01186)|Perphenazine(DB00850)|Prochlorperazine(DB00433)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Triflupromazine(DB00508)|Zuclopenthixol(DB01624) AATGCCTTCCGAAAATCAGCA 0.458000 23 26 0 0 1 0 0 PCDHA9 9752 broad.mit.edu 37 5 140228508 140228508 + Missense_Mutation SNP C C T TCGA-HQ-A2OF-01A-11D-A26M-08 TCGA-HQ-A2OF-10B-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18987f5d-2351-4308-bad2-84e5cd0bf9e7 6f03f9f2-dd98-4dc0-882d-0c495fb45a4a g.chr5:140228508C>T ENST00000378122.3 + 1 1152 c.428C>T c.(427-429)gCg>gTg p.A143V PCDHA3_ENST00000522353.2_Intron|PCDHA9_ENST00000532602.1_Missense_Mutation_p.A143V|PCDHA2_ENST00000526136.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA6_ENST00000529310.1_Intron NM_014005.3 NP_054724.1 breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(18)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 59 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CTGTTCATCGCGGAATCCAGG 0.557000 5 69 0 0 1 0 0 SYNE1 23345 broad.mit.edu 37 6 152688470 152688470 + Missense_Mutation SNP G G C rs147193363 TCGA-HQ-A2OF-01A-11D-A26M-08 TCGA-HQ-A2OF-10B-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18987f5d-2351-4308-bad2-84e5cd0bf9e7 6f03f9f2-dd98-4dc0-882d-0c495fb45a4a g.chr6:152688470G>C ENST00000367255.5 - 62 10456 c.9855C>G c.(9853-9855)ttC>ttG p.F3285L SYNE1_ENST00000341594.5_Missense_Mutation_p.F3324L|SYNE1_ENST00000423061.1_Missense_Mutation_p.F3292L|SYNE1_ENST00000448038.1_Missense_Mutation_p.F3292L|SYNE1_ENST00000265368.4_Missense_Mutation_p.F3285L NM_182961.3 NP_892006.3 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 3285 cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex actin binding|lamin binding NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19) 524 Ovarian(120;0.0955) BRCA - Breast invasive adenocarcinoma(37;0.243) OV - Ovarian serous cystadenocarcinoma(155;2.24e-10) TCCCAAGAGAGAACTGATTGT 0.458000 HNSCC(10;0.0054) 18 28 0 0 1 0 0 DGKI 9162 broad.mit.edu 37 7 137255995 137255995 + Missense_Mutation SNP C C A TCGA-HQ-A2OF-01A-11D-A26M-08 TCGA-HQ-A2OF-10B-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18987f5d-2351-4308-bad2-84e5cd0bf9e7 6f03f9f2-dd98-4dc0-882d-0c495fb45a4a g.chr7:137255995C>A ENST00000453654.2 - 19 1512 c.973G>T c.(973-975)Gat>Tat p.D325Y DGKI_ENST00000446122.1_Missense_Mutation_p.D625Y|DGKI_ENST00000424189.2_Missense_Mutation_p.D625Y|DGKI_ENST00000288490.5_Missense_Mutation_p.D625Y O75912 DGKI_HUMAN diacylglycerol kinase, iota activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation nucleus|plasma membrane ATP binding|diacylglycerol kinase activity|metal ion binding breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(46)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 84 TCATGGTGATCACCTGGGTTT 0.403000 9 13 6.40141e-05 6.58327e-05 1 1 0 TMC5 79838 broad.mit.edu 37 16 19483526 19483526 + Nonsense_Mutation SNP C C A TCGA-HQ-A2OF-01A-11D-A26M-08 TCGA-HQ-A2OF-10B-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18987f5d-2351-4308-bad2-84e5cd0bf9e7 6f03f9f2-dd98-4dc0-882d-0c495fb45a4a g.chr16:19483526C>A ENST00000396229.2 + 11 2648 c.1899C>A c.(1897-1899)tgC>tgA p.C633* TMC5_ENST00000561503.1_Nonsense_Mutation_p.C274*|TMC5_ENST00000564959.1_Nonsense_Mutation_p.C316*|TMC5_ENST00000381414.4_Nonsense_Mutation_p.C633*|TMC5_ENST00000541464.1_Intron|TMC5_ENST00000542583.2_Nonsense_Mutation_p.C633*|TMC5_ENST00000219821.5_Nonsense_Mutation_p.C387* NM_001105248.1 NP_001098718.1 Q6UXY8 TMC5_HUMAN transmembrane channel-like 5 633 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 CCATAGCCTGCTGTGCAGCCG 0.542000 27 103 1.17739e-12 1.2685e-12 1 1 0 GREB1 9687 broad.mit.edu 37 2 11750834 11750834 + Missense_Mutation SNP C C T TCGA-HQ-A2OF-01A-11D-A26M-08 TCGA-HQ-A2OF-10B-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18987f5d-2351-4308-bad2-84e5cd0bf9e7 6f03f9f2-dd98-4dc0-882d-0c495fb45a4a g.chr2:11750834C>T ENST00000381486.2 + 18 2987 c.2687C>T c.(2686-2688)gCg>gTg p.A896V GREB1_ENST00000234142.5_Missense_Mutation_p.A896V NM_014668.3 NP_055483.2 Q4ZG55 GREB1_HUMAN growth regulation by estrogen in breast cancer 1 896 integral to membrane breast(3)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(1) 30 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186) CTGCACAGCGCGGTGATCAGG 0.637000 13 56 0 0 1 0 0 MRGPRX1 259249 broad.mit.edu 37 11 18956124 18956124 + Missense_Mutation SNP C C T TCGA-HQ-A2OF-01A-11D-A26M-08 TCGA-HQ-A2OF-10B-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18987f5d-2351-4308-bad2-84e5cd0bf9e7 6f03f9f2-dd98-4dc0-882d-0c495fb45a4a g.chr11:18956124C>T ENST00000302797.3 - 1 432 c.208G>A c.(208-210)Gca>Aca p.A70T MRGPRX1_ENST00000526914.1_5'UTR NM_147199.3 NP_671732.3 Q96LB2 MRGX1_HUMAN MAS-related GPR, member X1 70 acute-phase response integral to membrane|plasma membrane G-protein coupled receptor activity central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(12)|pancreas(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 36 AAGTCTGCTGCGGCCAAGTTG 0.532000 41 104 0 0 1 0 0 CNTN3 5067 broad.mit.edu 37 3 74419065 74419065 + Missense_Mutation SNP T T C rs62620465 byFrequency TCGA-HQ-A2OF-01A-11D-A26M-08 TCGA-HQ-A2OF-10B-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18987f5d-2351-4308-bad2-84e5cd0bf9e7 6f03f9f2-dd98-4dc0-882d-0c495fb45a4a g.chr3:74419065T>C ENST00000263665.6 - 6 763 c.736A>G c.(736-738)Aaa>Gaa p.K246E NM_020872.1 NP_065923.1 Q9P232 CNTN3_HUMAN contactin 3 (plasmacytoma associated) 246 Ig-like C2-type 3. cell adhesion anchored to membrane|plasma membrane protein binding p.K246E(1) NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(39)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 83 Lung NSC(201;0.138)|Lung SC(41;0.21) Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01) CATTCCAATTTCACAGTCGAA 0.343000 4 31 0 0 1 0 0 PCNXL3 399909 broad.mit.edu 37 11 65387122 65387122 + Missense_Mutation SNP C C T TCGA-HQ-A2OF-01A-11D-A26M-08 TCGA-HQ-A2OF-10B-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18987f5d-2351-4308-bad2-84e5cd0bf9e7 6f03f9f2-dd98-4dc0-882d-0c495fb45a4a g.chr11:65387122C>T ENST00000355703.3 + 7 2359 c.1820C>T c.(1819-1821)tCg>tTg p.S607L NM_032223.2 NP_115599.2 Q9H6A9 PCX3_HUMAN pecanex-like 3 (Drosophila) 607 integral to membrane breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(1) 13 GTCATGGGCTCGCCGCCCAGG 0.711000 3 11 0 0 1 0 0 PRR23A 729627 broad.mit.edu 37 3 138724643 138724643 + Silent SNP G G A TCGA-HQ-A2OF-01A-11D-A26M-08 TCGA-HQ-A2OF-10B-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18987f5d-2351-4308-bad2-84e5cd0bf9e7 6f03f9f2-dd98-4dc0-882d-0c495fb45a4a g.chr3:138724643G>A ENST00000383163.2 - 1 467 c.468C>T c.(466-468)taC>taT p.Y156Y NM_001134659.1 NP_001128131.1 A6NEV1 PR23A_HUMAN proline rich 23A 156 p.Y156Y(1) endometrium(3)|kidney(1)|lung(7) 11 CGTCCTCCTCGTAGGCCTCTT 0.632000 12 14 0 0 1 0 0 ADAMTS9 56999 broad.mit.edu 37 3 64617147 64617147 + Silent SNP G G A TCGA-HQ-A2OF-01A-11D-A26M-08 TCGA-HQ-A2OF-10B-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18987f5d-2351-4308-bad2-84e5cd0bf9e7 6f03f9f2-dd98-4dc0-882d-0c495fb45a4a g.chr3:64617147G>A ENST00000498707.1 - 16 2715 c.2373C>T c.(2371-2373)gaC>gaT p.D791D ADAMTS9_ENST00000295903.4_Silent_p.D763D NM_182920.1 NP_891550.1 Q9P2N4 ATS9_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 9 791 Spacer. glycoprotein catabolic process|multicellular organismal development|proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding breast(3)|central_nervous_system(4)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(17)|liver(4)|lung(43)|ovary(3)|prostate(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 100 Lung NSC(201;0.00682) BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221) AGTTGTCATCGTCTGTTTCCC 0.473000 14 46 0 0 1 0 0 RDH16 8608 broad.mit.edu 37 12 57345829 57345829 + Missense_Mutation SNP G G C TCGA-HQ-A2OF-01A-11D-A26M-08 TCGA-HQ-A2OF-10B-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18987f5d-2351-4308-bad2-84e5cd0bf9e7 6f03f9f2-dd98-4dc0-882d-0c495fb45a4a g.chr12:57345829G>C ENST00000398138.3 - 4 1794 c.938C>G c.(937-939)cCg>cGg p.P313R RDH16_ENST00000360752.4_5'UTR NM_003708.3 NP_003699.3 O75452 RDH16_HUMAN retinol dehydrogenase 16 (all-trans) 313 lipid metabolic process endoplasmic reticulum membrane|integral to membrane|microsome binding|electron carrier activity|retinol dehydrogenase activity haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9) 16 AGCCTTGGCCGGGCTTGGAGA 0.542000 30 15 0 0 1 0 0 MAOA 4128 broad.mit.edu 37 X 43590545 43590545 + Missense_Mutation SNP G G A TCGA-HQ-A2OF-01A-11D-A26M-08 TCGA-HQ-A2OF-10B-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18987f5d-2351-4308-bad2-84e5cd0bf9e7 6f03f9f2-dd98-4dc0-882d-0c495fb45a4a g.chrX:43590545G>A ENST00000338702.3 + 7 826 c.703G>A c.(703-705)Gga>Aga p.G235R MAOA_ENST00000542639.1_Missense_Mutation_p.G102R|MAOA_ENST00000497485.1_3'UTR NM_000240.3 NP_000231.1 P21397 AOFA_HUMAN monoamine oxidase A 235 behavior|neurotransmitter biosynthetic process|neurotransmitter catabolic process|neurotransmitter secretion|xenobiotic metabolic process integral to membrane|mitochondrial outer membrane primary amine oxidase activity|protein binding NS(1)|breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 18 Almotriptan(DB00918)|Carbidopa(DB00190)|Clonazepam(DB01068)|Dopamine(DB00988)|Fluvoxamine(DB00176)|Ginkgo biloba(DB01381)|Imipramine(DB00458)|Isocarboxazid(DB01247)|Levodopa(DB01235)|Linezolid(DB00601)|Lorazepam(DB00186)|Moclobemide(DB01171)|Nicotine(DB00184)|Norepinephrine(DB00368)|Phenelzine(DB00780)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Phenylephrine(DB00388)|Phenylpropanolamine(DB00397)|Pseudoephedrine(DB00852)|Rasagiline(DB01367)|Riboflavin(DB00140)|Rizatriptan(DB00953)|Selegiline(DB01037)|Sumatriptan(DB00669)|Testosterone(DB00624)|Tranylcypromine(DB00752)|Zolmitriptan(DB00315) GGACCTCCTCGGAGACCAAGT 0.468000 15 4 0 0 1 0 0 TRBV4-2 28616 broad.mit.edu 37 7 142045302 142045302 + RNA SNP G G C TCGA-HQ-A2OF-01A-11D-A26M-08 TCGA-HQ-A2OF-10B-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18987f5d-2351-4308-bad2-84e5cd0bf9e7 6f03f9f2-dd98-4dc0-882d-0c495fb45a4a g.chr7:142045302G>C ENST00000390392.3 + 0 51 AAGGAGACCAGAGCCCAGCAC 0.587000 11 56 0 0 1 0 0 CYP7B1 9420 broad.mit.edu 37 8 65528598 65528598 + Missense_Mutation SNP G G T TCGA-HQ-A2OF-01A-11D-A26M-08 TCGA-HQ-A2OF-10B-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18987f5d-2351-4308-bad2-84e5cd0bf9e7 6f03f9f2-dd98-4dc0-882d-0c495fb45a4a g.chr8:65528598G>T ENST00000310193.3 - 3 673 c.500C>A c.(499-501)cCc>cAc p.P167H NM_004820.3 NP_004811.1 O75881 CP7B1_HUMAN cytochrome P450, family 7, subfamily B, polypeptide 1 167 bile acid biosynthetic process|cell death|cholesterol metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome 25-hydroxycholesterol 7alpha-hydroxylase activity|electron carrier activity|heme binding|oxysterol 7-alpha-hydroxylase activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(11)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 28 all_cancers(86;0.217)|Lung NSC(129;0.0521)|all_lung(136;0.0906)|all_epithelial(80;0.215) TAACAGCTGGGGTTCAAAAAC 0.368000 6 45 2.0095e-06 2.07839e-06 1 1 0 PIPSL 266971 broad.mit.edu 37 10 95718949 95718949 + RNA SNP C C T rs11813252 by1000genomes TCGA-HQ-A2OF-01A-11D-A26M-08 TCGA-HQ-A2OF-10B-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18987f5d-2351-4308-bad2-84e5cd0bf9e7 6f03f9f2-dd98-4dc0-882d-0c495fb45a4a g.chr10:95718949C>T ENST00000480546.1 - 0 2348 NR_002319.2 CAGTCCCAGTCGTAGCAATCC 0.587000 4 25 0 0 1 0 0 SLCO3A1 28232 broad.mit.edu 37 15 92690231 92690231 + Silent SNP G G A TCGA-HQ-A2OF-01A-11D-A26M-08 TCGA-HQ-A2OF-10B-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18987f5d-2351-4308-bad2-84e5cd0bf9e7 6f03f9f2-dd98-4dc0-882d-0c495fb45a4a g.chr15:92690231G>A ENST00000318445.6 + 8 1744 c.1530G>A c.(1528-1530)gcG>gcA p.A510A SLCO3A1_ENST00000555549.1_3'UTR|SLCO3A1_ENST00000424469.2_Silent_p.A510A NM_013272.3 NP_037404.2 Q9UIG8 SO3A1_HUMAN solute carrier organic anion transporter family, member 3A1 510 Kazal-like. sodium-independent organic anion transport integral to membrane|plasma membrane sodium-independent organic anion transmembrane transporter activity breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)|skin(2) 25 Lung NSC(78;0.0158)|all_lung(78;0.0255) BRCA - Breast invasive adenocarcinoma(143;0.0841) CGGGCTGTGCGTGCCTCACCA 0.552000 12 29 0 0 1 0 0 OR10Z1 128368 broad.mit.edu 37 1 158576467 158576467 + Missense_Mutation SNP G G T TCGA-HQ-A2OF-01A-11D-A26M-08 TCGA-HQ-A2OF-10B-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18987f5d-2351-4308-bad2-84e5cd0bf9e7 6f03f9f2-dd98-4dc0-882d-0c495fb45a4a g.chr1:158576467G>T ENST00000361284.1 + 1 239 c.239G>T c.(238-240)aGa>aTa p.R80I NM_001004478.1 NP_001004478.1 Q8NGY1 O10Z1_HUMAN olfactory receptor, family 10, subfamily Z, member 1 80 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|large_intestine(6)|lung(21)|pancreas(1)|prostate(3)|skin(4) 37 all_hematologic(112;0.0378) ATCATCCCTAGAATGCTCTCT 0.542000 136 74 3.8661e-36 4.26686e-36 1 1 0 TH 7054 broad.mit.edu 37 11 2189113 2189113 + Silent SNP G G A TCGA-HQ-A2OF-01A-11D-A26M-08 TCGA-HQ-A2OF-10B-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18987f5d-2351-4308-bad2-84e5cd0bf9e7 6f03f9f2-dd98-4dc0-882d-0c495fb45a4a g.chr11:2189113G>A ENST00000381178.1 - 6 738 c.720C>T c.(718-720)atC>atT p.I240I TH_ENST00000333684.5_Silent_p.I213I|TH_ENST00000352909.3_Silent_p.I209I|TH_ENST00000381175.1_Silent_p.I236I NM_199292.2 NP_954986.2 P07101 TY3H_HUMAN tyrosine hydroxylase 240 dopamine biosynthetic process from tyrosine|embryonic camera-type eye morphogenesis|epinephrine biosynthetic process|eye photoreceptor cell development|heart morphogenesis|hormone biosynthetic process|learning|locomotory behavior|memory|neurotransmitter biosynthetic process|neurotransmitter secretion|norepinephrine biosynthetic process|pigmentation|regulation of heart contraction|response to ethanol|response to hypoxia|synaptic transmission, dopaminergic|visual perception cytosol|internal side of plasma membrane|melanosome membrane|nucleus|perikaryon|smooth endoplasmic reticulum protein binding|tyrosine 3-monooxygenase activity NS(1)|endometrium(1)|large_intestine(1)|lung(7)|skin(1) 11 all_epithelial(84;1.46e-23)|Lung NSC(207;4.44e-11)|all_lung(207;1.11e-09)|Ovarian(85;1.78e-06)|Breast(177;1.78e-05)|Medulloblastoma(188;0.0208)|all_neural(188;0.0416) Colorectal(5;0.00245)|COAD - Colon adenocarcinoma(6;0.0239) BRCA - Breast invasive adenocarcinoma(625;8.45e-09)|Lung(200;0.000152)|LUSC - Lung squamous cell carcinoma(625;0.00154) L-Phenylalanine(DB00120)|L-Tyrosine(DB00135)|Metyrosine(DB00765)|Tetrahydrobiopterin(DB00360) ACTGGAAGGCGATCTCAGCAA 0.677000 3 8 0 0 1 0 0 DLL1 28514 broad.mit.edu 37 6 170592500 170592500 + Missense_Mutation SNP C C T TCGA-HQ-A2OF-01A-11D-A26M-08 TCGA-HQ-A2OF-10B-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18987f5d-2351-4308-bad2-84e5cd0bf9e7 6f03f9f2-dd98-4dc0-882d-0c495fb45a4a g.chr6:170592500C>T ENST00000366756.3 - 9 2200 c.1867G>A c.(1867-1869)Ggg>Agg p.G623R NM_005618.3 NP_005609.3 O00548 DLL1_HUMAN delta-like 1 (Drosophila) 623 cell communication|cell fate determination|hemopoiesis|Notch receptor processing|Notch signaling pathway|regulation of cell adhesion extracellular region|integral to plasma membrane calcium ion binding|Notch binding NS(2)|breast(1)|endometrium(1)|large_intestine(7)|lung(17)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1) 33 Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246) OV - Ovarian serous cystadenocarcinoma(33;6.71e-23)|BRCA - Breast invasive adenocarcinoma(81;4.81e-06)|GBM - Glioblastoma multiforme(31;0.0584) CTGTGGTCCCCGTGGAAGTCC 0.592000 28 54 0 0 1 0 0 HIST1H2BL 8340 broad.mit.edu 37 6 27775340 27775340 + Silent SNP G G C TCGA-HQ-A2OF-01A-11D-A26M-08 TCGA-HQ-A2OF-10B-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18987f5d-2351-4308-bad2-84e5cd0bf9e7 6f03f9f2-dd98-4dc0-882d-0c495fb45a4a g.chr6:27775340G>C ENST00000377401.2 - 1 369 c.345C>G c.(343-345)ggC>ggG p.G115G NM_003519.3 NP_003510.1 Q99880 H2B1L_HUMAN histone cluster 1, H2bl 115 nucleosome assembly nucleosome|nucleus DNA binding cervix(1)|endometrium(1)|large_intestine(2)|lung(7)|urinary_tract(1) 12 CGGCCTTGGTGCCCTCCGACA 0.567000 22 32 0 0 1 0 0 FAM45B 55855 broad.mit.edu 37 X 129630088 129630088 + RNA SNP C C T TCGA-HQ-A2OF-01A-11D-A26M-08 TCGA-HQ-A2OF-10B-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18987f5d-2351-4308-bad2-84e5cd0bf9e7 6f03f9f2-dd98-4dc0-882d-0c495fb45a4a g.chrX:129630088C>T ENST00000458525.1 - 0 1015 FAM45B_ENST00000592932.1_RNA TCAGAAGTTTCGGCTGATGGA 0.418000 13 24 0 0 1 0 0 MBTD1 54799 broad.mit.edu 37 17 49270326 49270326 + Missense_Mutation SNP G G C TCGA-HQ-A2OF-01A-11D-A26M-08 TCGA-HQ-A2OF-10B-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18987f5d-2351-4308-bad2-84e5cd0bf9e7 6f03f9f2-dd98-4dc0-882d-0c495fb45a4a g.chr17:49270326G>C ENST00000586178.1 - 15 1850 c.1507C>G c.(1507-1509)Ctc>Gtc p.L503V MBTD1_ENST00000415868.1_Missense_Mutation_p.L503V|MBTD1_ENST00000376381.2_3'UTR NM_017643.2 NP_060113.2 Q05BQ5 MBTD1_HUMAN mbt domain containing 1 503 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus zinc ion binding breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(2)|skin(1)|urinary_tract(1) 12 BRCA - Breast invasive adenocarcinoma(22;1.54e-08) GGCTCCATGAGATCTACTGCT 0.378000 32 160 0 0 1 0 0 ANO8 57719 broad.mit.edu 37 19 17443990 17443990 + Missense_Mutation SNP C C T TCGA-HQ-A2OF-01A-11D-A26M-08 TCGA-HQ-A2OF-10B-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18987f5d-2351-4308-bad2-84e5cd0bf9e7 6f03f9f2-dd98-4dc0-882d-0c495fb45a4a g.chr19:17443990C>T ENST00000159087.4 - 4 567 c.409G>A c.(409-411)Ggg>Agg p.G137R NM_020959.2 NP_066010.1 Q9HCE9 ANO8_HUMAN anoctamin 8 137 chloride channel complex chloride channel activity autonomic_ganglia(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(3) 27 CGGGTGCCCCCGCCAAACTCG 0.652000 6 11 0 0 1 0 0 MRPL10 124995 broad.mit.edu 37 17 45901597 45901597 + Missense_Mutation SNP C C A TCGA-HQ-A2OF-01A-11D-A26M-08 TCGA-HQ-A2OF-10B-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18987f5d-2351-4308-bad2-84e5cd0bf9e7 6f03f9f2-dd98-4dc0-882d-0c495fb45a4a g.chr17:45901597C>A ENST00000290208.7 - 5 1242 c.790G>T c.(790-792)Gat>Tat p.D264Y MRPL10_ENST00000351111.2_Missense_Mutation_p.D254Y|MRPL10_ENST00000414011.1_Missense_Mutation_p.D264Y Q7Z7H8 RM10_HUMAN mitochondrial ribosomal protein L10 254 ribosome biogenesis|translation mitochondrial large ribosomal subunit structural constituent of ribosome endometrium(3)|large_intestine(1)|lung(3)|ovary(1) 8 GTGTCAGGATCTGGCTTCCCA 0.562000 24 230 7.07758e-08 7.40487e-08 1 1 0 PRICKLE1 144165 broad.mit.edu 37 12 42862456 42862456 + Missense_Mutation SNP A A T TCGA-HQ-A2OF-01A-11D-A26M-08 TCGA-HQ-A2OF-10B-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18987f5d-2351-4308-bad2-84e5cd0bf9e7 6f03f9f2-dd98-4dc0-882d-0c495fb45a4a g.chr12:42862456A>T ENST00000455697.1 - 5 845 c.560T>A c.(559-561)cTc>cAc p.L187H PRICKLE1_ENST00000445766.2_Missense_Mutation_p.L187H|PRICKLE1_ENST00000345127.3_Missense_Mutation_p.L187H|PRICKLE1_ENST00000548696.1_Missense_Mutation_p.L187H|PRICKLE1_ENST00000552240.1_Missense_Mutation_p.L187H NM_001144882.1|NM_001144883.1 NP_001138354.1|NP_001138355.1 Q96MT3 PRIC1_HUMAN prickle homolog 1 (Drosophila) 187 LIM zinc-binding 1. negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cardiac muscle cell myoblast differentiation|negative regulation of transcription, DNA-dependent|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination|protein import into nucleus cytosol|nuclear membrane zinc ion binding NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|liver(1)|lung(13)|ovary(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 47 all_cancers(12;4.25e-05)|Breast(8;0.176) GBM - Glioblastoma multiforme(48;0.2) CCGTGGTTTGAGCAGTTCTGC 0.418000 8 45 0 0 1 0 0 DND1 373863 broad.mit.edu 37 5 140052285 140052285 + Frame_Shift_Del DEL T T - TCGA-HQ-A2OF-01A-11D-A26M-08 TCGA-HQ-A2OF-10B-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18987f5d-2351-4308-bad2-84e5cd0bf9e7 6f03f9f2-dd98-4dc0-882d-0c495fb45a4a g.chr5:140052285delT ENST00000542735.1 - 3 392 c.349delA c.(349-351)acgfs p.T117fs NM_194249.2 NP_919225.1 Q8IYX4 DND1_HUMAN DND microRNA-mediated repression inhibitor 1 117 RRM 1. multicellular organismal development|negative regulation of gene silencing by miRNA cytoplasm|nucleus AU-rich element binding|nucleotide binding p.T117fs*24(1) central_nervous_system(1)|prostate(4) 5 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TTGTGCAGCGTGGCGATGGCG 0.682 5 9 --- --- --- --- MMP16 4325 broad.mit.edu 37 8 89086906 89086906 + Frame_Shift_Del DEL G G - TCGA-HQ-A2OF-01A-11D-A26M-08 TCGA-HQ-A2OF-10B-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18987f5d-2351-4308-bad2-84e5cd0bf9e7 6f03f9f2-dd98-4dc0-882d-0c495fb45a4a g.chr8:89086906delG ENST00000286614.6 - 7 1430 c.1149delC c.(1147-1149)tacfs p.Y383fs MMP16_ENST00000544227.1_5'UTR NM_005941.4 NP_005932.2 P51512 MMP16_HUMAN matrix metallopeptidase 16 (membrane-inserted) 383 Hemopexin-like 1. collagen catabolic process|proteolysis cell surface|integral to plasma membrane|proteinaceous extracellular matrix calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(51)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(3) 81 CCCGCCAGAAGTAAGTAATTT 0.438 81 67 --- --- --- --- EXT1 2131 broad.mit.edu 37 8 119122616 119122644 + Frame_Shift_Del DEL CAGTACTGATGCTGGCTTTGGCCAGCATC CAGTACTGATGCTGGCTTTGGCCAGCATC - rs149242997 TCGA-HQ-A2OF-01A-11D-A26M-08 TCGA-HQ-A2OF-10B-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18987f5d-2351-4308-bad2-84e5cd0bf9e7 6f03f9f2-dd98-4dc0-882d-0c495fb45a4a g.chr8:119122616_119122644delCAGTACTGATGCTGGCTTTGGCCAGCATC ENST00000378204.2 - 1 1448_1476 c.642_670delGATGCTGGCCAAAGCCAGCATCAGTACTG c.(640-672)gcgatgctggccaaagccagcatcagtactgaafs p.MLAKASISTE215fs NM_000127.2 NP_000118.2 Q16394 EXT1_HUMAN exostosin glycosyltransferase 1 215 MLAKASIS -> I (in isolated osteochondroma; somatic mutation).|Missing (in EXT1). glycosaminoglycan biosynthetic process|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|ossification|signal transduction|skeletal system development Golgi membrane|integral to endoplasmic reticulum membrane glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|heparan sulfate N-acetylglucosaminyltransferase activity|N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity breast(1)|endometrium(7)|kidney(1)|large_intestine(12)|lung(10)|ovary(3)|prostate(1)|stomach(1)|urinary_tract(2) 38 all_cancers(13;2.36e-26)|Lung NSC(37;5.02e-07)|Ovarian(258;0.0173) STAD - Stomach adenocarcinoma(47;0.012) CGGAAGTTTTCAGTACTGATGCTGGCTTTGGCCAGCATCGCCTGGCCGA 0.476 """Mis, N, F, S""" """exostoses, osteosarcoma""" Langer-Giedion syndrome;Hereditary Multiple Exostoses 16 115 --- --- --- --- CASP5 838 broad.mit.edu 37 11 104879686 104879687 + Frame_Shift_Ins INS - - T TCGA-HQ-A2OF-01A-11D-A26M-08 TCGA-HQ-A2OF-10B-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18987f5d-2351-4308-bad2-84e5cd0bf9e7 6f03f9f2-dd98-4dc0-882d-0c495fb45a4a g.chr11:104879686_104879687insT ENST00000393141.2 - 2 98_99 c.67_68insA c.(67-69)aggfs p.R23fs CASP5_ENST00000531367.1_Intron|CASP5_ENST00000393139.2_5'UTR|CASP5_ENST00000418434.1_Intron|CASP5_ENST00000526056.1_Frame_Shift_Ins_p.R23fs|CASP5_ENST00000444749.2_Intron|CASP5_ENST00000260315.3_Frame_Shift_Ins_p.R10fs NM_001136112.1|NM_004347.3 NP_001129584.1|NP_004338.3 P51878 CASP5_HUMAN caspase 5, apoptosis-related cysteine peptidase 10 apoptosis|cellular response to mechanical stimulus|proteolysis|regulation of apoptosis intracellular cysteine-type endopeptidase activity|protein binding NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(15)|ovary(3)|skin(1)|urinary_tract(1) 35 Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047) BRCA - Breast invasive adenocarcinoma(274;0.000943)|Epithelial(105;0.0104)|all cancers(92;0.042) ATTCTTACGCCTTTTTTTTTTG 0.386 9 9 --- --- --- --- PLEKHG6 55200 broad.mit.edu 37 12 6424295 6424305 + Frame_Shift_Del DEL CCATCGAGAAG CCATCGAGAAG - rs143574959 TCGA-HQ-A2OF-01A-11D-A26M-08 TCGA-HQ-A2OF-10B-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18987f5d-2351-4308-bad2-84e5cd0bf9e7 6f03f9f2-dd98-4dc0-882d-0c495fb45a4a g.chr12:6424295_6424305delCCATCGAGAAG ENST00000449001.2 + 3 817_827 c.323_333delCCATCGAGAAG c.(322-333)accatcgagaagfs p.TIEK108fs PLEKHG6_ENST00000011684.7_Frame_Shift_Del_p.TIEK140fs|PLEKHG6_ENST00000536531.1_Frame_Shift_Del_p.TIEK140fs|PLEKHG6_ENST00000396988.3_Frame_Shift_Del_p.TIEK140fs NM_001144857.1 NP_001138329.1 Q3KR16 PKHG6_HUMAN pleckstrin homology domain containing, family G (with RhoGef domain) member 6 140 regulation of Rho protein signal transduction cleavage furrow|cytoplasm|spindle pole GTPase activator activity|Rho guanyl-nucleotide exchange factor activity p.I141I(1)|p.E142K(1) autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|skin(4) 23 AGTGGCCTGACCATCGAGAAGTCCTGGAGGG 0.611 9 62 --- --- --- --- LOC101927058 101927058 broad.mit.edu 37 12 43018865 43018867 + RNA DEL TTC TTC - TCGA-HQ-A2OF-01A-11D-A26M-08 TCGA-HQ-A2OF-10B-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18987f5d-2351-4308-bad2-84e5cd0bf9e7 6f03f9f2-dd98-4dc0-882d-0c495fb45a4a g.chr12:43018865_43018867delTTC ENST00000550337.1 - 0 752 ctcttcttctttcttcttcttct 0.453 2 4 --- --- --- --- RP11-420N3.2 0 broad.mit.edu 37 16 5320213 5320214 + RNA INS - - A TCGA-HQ-A2OF-01A-11D-A26M-08 TCGA-HQ-A2OF-10B-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18987f5d-2351-4308-bad2-84e5cd0bf9e7 6f03f9f2-dd98-4dc0-882d-0c495fb45a4a g.chr16:5320213_5320214insA ENST00000569895.1 + 0 304 TGAAAGGTGGCAAAAAGGGAGT 0.366 4 3 --- --- --- --- CDH1 999 broad.mit.edu 37 16 68847275 68847277 + In_Frame_Del DEL TGA TGA - TCGA-HQ-A2OF-01A-11D-A26M-08 TCGA-HQ-A2OF-10B-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18987f5d-2351-4308-bad2-84e5cd0bf9e7 6f03f9f2-dd98-4dc0-882d-0c495fb45a4a g.chr16:68847275_68847277delTGA ENST00000261769.5 + 9 1388_1390 c.1197_1199delTGA c.(1195-1200)actgat>act p.D400del CDH1_ENST00000562836.1_3'UTR|CDH1_ENST00000422392.2_Intron NM_004360.3 NP_004351.1 P12830 CADH1_HUMAN cadherin 1, type 1, E-cadherin (epithelial) 400 Cadherin 3. Missing (in a gastric carcinoma sample; loss of heterozygosity). adherens junction organization|cellular component disassembly involved in apoptosis|cellular response to indole-3-methanol|cellular response to lithium ion|homophilic cell adhesion|negative regulation of cell-cell adhesion|positive regulation of transcription factor import into nucleus|positive regulation of transcription, DNA-dependent|regulation of immune response actin cytoskeleton|aggresome|apical junction complex|catenin complex|cell-cell adherens junction|endosome|focal adhesion|Golgi apparatus|integral to membrane|internal side of plasma membrane|lateral plasma membrane|perinuclear region of cytoplasm cell adhesion molecule binding|gamma-catenin binding p.T399fs*17(3)|p.Y380_K440del(2)|p.D400del(1)|p.D400Y(1)|p.?(1) NS(6)|biliary_tract(8)|breast(161)|central_nervous_system(4)|endometrium(9)|kidney(4)|large_intestine(13)|lung(13)|oesophagus(3)|ovary(2)|prostate(3)|soft_tissue(2)|stomach(76)|thyroid(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 311 all_neural(199;0.0189)|Ovarian(137;0.0563) Epithelial(162;8.44e-05)|all cancers(182;0.000404)|OV - Ovarian serous cystadenocarcinoma(108;0.000426)|BRCA - Breast invasive adenocarcinoma(181;0.0261) TGAAAGTGACTGATGCTGATGCC 0.473 """Mis, N, F, S""" """lobular breast, gastric""" gastric Hereditary Diffuse Gastric Cancer 29 108 --- --- --- --- ABCC3 8714 broad.mit.edu 37 17 48745251 48745251 + Frame_Shift_Del DEL G G - TCGA-HQ-A2OF-01A-11D-A26M-08 TCGA-HQ-A2OF-10B-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18987f5d-2351-4308-bad2-84e5cd0bf9e7 6f03f9f2-dd98-4dc0-882d-0c495fb45a4a g.chr17:48745251delG ENST00000285238.8 + 13 1743 c.1663delG c.(1663-1665)gtgfs p.V555fs ABCC3_ENST00000427699.1_3'UTR NM_003786.3 NP_003777.2 O15438 MRP3_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 3 555 ABC transmembrane type-1 1. bile acid metabolic process integral to plasma membrane|membrane fraction ATP binding|bile acid-exporting ATPase activity|organic anion transmembrane transporter activity breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 33 BRCA - Breast invasive adenocarcinoma(22;3.05e-09) Glibenclamide(DB01016) CTGGGTGTACGTGTACGTGGA 0.567 15 39 --- --- --- ---