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 GALR3 8484 broad.mit.edu 37 22 38221104 38221104 + Missense_Mutation SNP C C T TCGA-CV-A45R-01A-11D-A24D-08 TCGA-CV-A45R-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ca16f0b-5471-40a1-976d-409a8bea7c0c 1d6f4a43-d1b5-4c30-aec7-ad78a5d6c5b8 g.chr22:38221104C>T ENST00000249041.2 + 2 759 c.734C>T c.(733-735)gCg>gTg p.A245V NM_003614.1 NP_003605.1 O60755 GALR3_HUMAN galanin receptor 3 245 feeding behavior|learning or memory|negative regulation of adenylate cyclase activity integral to membrane|plasma membrane galanin receptor activity endometrium(1)|liver(2)|lung(1) 4 Melanoma(58;0.045) GCGCTCTACGCGCTCTGCTGG 0.786000 3 13 0 0 1 0 0 ARID1A 8289 broad.mit.edu 37 1 27059232 27059232 + Silent SNP A A G TCGA-CV-A45R-01A-11D-A24D-08 TCGA-CV-A45R-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ca16f0b-5471-40a1-976d-409a8bea7c0c 1d6f4a43-d1b5-4c30-aec7-ad78a5d6c5b8 g.chr1:27059232A>G ENST00000324856.7 + 4 2240 c.1869A>G c.(1867-1869)ggA>ggG p.G623G ARID1A_ENST00000374152.2_Silent_p.G240G|ARID1A_ENST00000457599.2_Silent_p.G623G NM_006015.4 NP_006006.3 O14497 ARI1A_HUMAN AT rich interactive domain 1A (SWI-like) 623 androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent nBAF complex|npBAF complex|SWI/SNF complex DNA binding|protein binding ARID1A/MAST2_ENST00000361297(2) NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24) 411 all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242) CCAGTAAGGGAGGGCAAGAAG 0.498000 """Mis, N, F, S, D""" """clear cell ovarian carcinoma, RCC""" 35 92 0 0 1 0 0 SELO 83642 broad.mit.edu 37 22 50655514 50655514 + Missense_Mutation SNP C C T TCGA-CV-A45R-01A-11D-A24D-08 TCGA-CV-A45R-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ca16f0b-5471-40a1-976d-409a8bea7c0c 1d6f4a43-d1b5-4c30-aec7-ad78a5d6c5b8 g.chr22:50655514C>T ENST00000380903.2 + 8 1860 c.1802C>T c.(1801-1803)gCg>gTg p.A601V RP3-402G11.5_ENST00000492092.1_3'UTR NM_031454.1 NP_113642.1 AACTACATCGCGCAGAATGCC 0.667000 15 77 0 0 1 0 0 DIP2A 23181 broad.mit.edu 37 21 47965129 47965129 + Silent SNP C C T TCGA-CV-A45R-01A-11D-A24D-08 TCGA-CV-A45R-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ca16f0b-5471-40a1-976d-409a8bea7c0c 1d6f4a43-d1b5-4c30-aec7-ad78a5d6c5b8 g.chr21:47965129C>T ENST00000318711.7 + 19 2442 c.2259C>T c.(2257-2259)tcC>tcT p.S753S DIP2A_ENST00000400274.1_Silent_p.S748S|DIP2A_ENST00000466639.1_Silent_p.S709S|DIP2A_ENST00000435722.3_Silent_p.S752S|DIP2A_ENST00000417564.2_Silent_p.S752S|DIP2A_ENST00000427143.2_Silent_p.S688S|DIP2A_ENST00000457905.3_Silent_p.S752S NM_001146116.1|NM_015151.3 NP_001139588.1|NP_055966.2 Q14689 DIP2A_HUMAN DIP2 disco-interacting protein 2 homolog A (Drosophila) 752 multicellular organismal development nucleus catalytic activity|transcription factor binding cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(22)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 43 Breast(49;0.0933) Epithelial(3;3.12e-06)|OV - Ovarian serous cystadenocarcinoma(3;5.68e-06)|all cancers(3;4.08e-05)|Colorectal(79;0.0129)|COAD - Colon adenocarcinoma(84;0.0824) GCGTCAGTTCCAGTGCAACTG 0.388000 8 50 0 0 1 0 0 OBSCN 84033 broad.mit.edu 37 1 228495023 228495023 + Missense_Mutation SNP G G A TCGA-CV-A45R-01A-11D-A24D-08 TCGA-CV-A45R-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ca16f0b-5471-40a1-976d-409a8bea7c0c 1d6f4a43-d1b5-4c30-aec7-ad78a5d6c5b8 g.chr1:228495023G>A ENST00000570156.2 + 57 15202 c.15128G>A c.(15127-15129)cGg>cAg p.R5043Q OBSCN_ENST00000284548.11_Missense_Mutation_p.R4086Q|OBSCN_ENST00000422127.1_Missense_Mutation_p.R4086Q|OBSCN_ENST00000366709.4_Missense_Mutation_p.R1205Q|OBSCN_ENST00000366707.4_Missense_Mutation_p.R1720Q NM_001271223.2 NP_001258152.2 Q5VST9 OBSCN_HUMAN obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF 4086 apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|M band|Z disc ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3) 223 Prostate(94;0.0405) GACATAGCCCGGCTGTGCTGT 0.622000 15 89 0 0 1 0 0 KIR3DL2 3812 broad.mit.edu 37 19 55378031 55378031 + Missense_Mutation SNP G G A TCGA-CV-A45R-01A-11D-A24D-08 TCGA-CV-A45R-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ca16f0b-5471-40a1-976d-409a8bea7c0c 1d6f4a43-d1b5-4c30-aec7-ad78a5d6c5b8 g.chr19:55378031G>A ENST00000326321.3 + 9 1246 c.1213G>A c.(1213-1215)Gtt>Att p.V405I KIR3DL2_ENST00000270442.5_Missense_Mutation_p.V388I|KIR3DL1_ENST00000402254.2_Missense_Mutation_p.V405I NM_006737.3 NP_006728.2 P43630 KI3L2_HUMAN killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 2 405 cellular defense response|regulation of immune response integral to plasma membrane receptor activity breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 23 GBM - Glioblastoma multiforme(193;0.0192) GGATCACTGCGTTTTCATACA 0.512000 50 221 0 0 1 0 0 SCN8A 6334 broad.mit.edu 37 12 52100401 52100401 + Missense_Mutation SNP G G A TCGA-CV-A45R-01A-11D-A24D-08 TCGA-CV-A45R-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ca16f0b-5471-40a1-976d-409a8bea7c0c 1d6f4a43-d1b5-4c30-aec7-ad78a5d6c5b8 g.chr12:52100401G>A ENST00000354534.5 + 11 1715 c.1537G>A c.(1537-1539)Gag>Aag p.E513K SCN8A_ENST00000550891.1_Missense_Mutation_p.E513K|SCN8A_ENST00000545061.1_Missense_Mutation_p.E513K NM_001177984.2|NM_014191.3 NP_001171455.1|NP_055006.1 Q9UQD0 SCN8A_HUMAN sodium channel, voltage gated, type VIII, alpha subunit 513 axon guidance|myelination|peripheral nervous system development cytoplasmic membrane-bounded vesicle|node of Ranvier ATP binding|voltage-gated sodium channel activity breast(2)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 55 BRCA - Breast invasive adenocarcinoma(357;0.181) Lamotrigine(DB00555) AGGGGATCCCGAGAAGGTGTT 0.453000 3 17 0 0 1 0 0 PIK3CA 5290 broad.mit.edu 37 3 178936095 178936095 + Missense_Mutation SNP A A G TCGA-CV-A45R-01A-11D-A24D-08 TCGA-CV-A45R-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ca16f0b-5471-40a1-976d-409a8bea7c0c 1d6f4a43-d1b5-4c30-aec7-ad78a5d6c5b8 g.chr3:178936095A>G ENST00000263967.3 + 10 1794 c.1637A>G c.(1636-1638)cAg>cGg p.Q546R NM_006218.2 NP_006209.2 P42336 PK3CA_HUMAN phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha 546 PI3K helical. Q -> E (in cancer).|Q -> K (in cancer).|Q -> P (in cancer).|Q -> R (in cancer). epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity p.Q546R(30)|p.Q546P(18)|p.Q546L(5) NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208) 5269 all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155) OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282) ATCACTGAGCAGGAGAAAGAT 0.363000 57 Mis """colorectal, gastric, gliobastoma, breast""" HNSCC(19;0.045)|TSP Lung(28;0.18) 16 19 0 0 1 0 0 DPP10 57628 broad.mit.edu 37 2 116497323 116497323 + Missense_Mutation SNP C C G TCGA-CV-A45R-01A-11D-A24D-08 TCGA-CV-A45R-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ca16f0b-5471-40a1-976d-409a8bea7c0c 1d6f4a43-d1b5-4c30-aec7-ad78a5d6c5b8 g.chr2:116497323C>G ENST00000410059.1 + 9 1186 c.706C>G c.(706-708)Ctg>Gtg p.L236V DPP10_ENST00000409163.1_Missense_Mutation_p.L186V|DPP10_ENST00000393147.2_Missense_Mutation_p.L240V|DPP10_ENST00000310323.8_Missense_Mutation_p.L229V|DPP10_ENST00000488208.1_3'UTR NM_001178037.1|NM_020868.3 NP_001171508.1|NP_065919.2 Q8N608 DPP10_HUMAN dipeptidyl-peptidase 10 (non-functional) 236 proteolysis integral to membrane|membrane fraction serine-type peptidase activity breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1) 101 AGAGGAACTCCTGCATTCTCA 0.458000 13 57 0 0 1 0 0 EML2 24139 broad.mit.edu 37 19 46120937 46120937 + Missense_Mutation SNP C C T rs142161460 TCGA-CV-A45R-01A-11D-A24D-08 TCGA-CV-A45R-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ca16f0b-5471-40a1-976d-409a8bea7c0c 1d6f4a43-d1b5-4c30-aec7-ad78a5d6c5b8 g.chr19:46120937C>T ENST00000536630.1 - 16 1852 c.1714G>A c.(1714-1716)Ggc>Agc p.G572S EML2_ENST00000589876.1_Missense_Mutation_p.G425S|EML2_ENST00000587152.1_Missense_Mutation_p.G626S|EML2_ENST00000245925.3_Missense_Mutation_p.G425S NM_001193269.1 NP_001180198.1 O95834 EMAL2_HUMAN echinoderm microtubule associated protein like 2 425 sensory perception of sound|visual perception cytoplasm|intracellular membrane-bounded organelle|microtubule|microtubule associated complex catalytic activity|protein binding NS(1)|breast(2)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(13)|ovary(1)|urinary_tract(1) 31 Ovarian(192;0.179)|all_neural(266;0.224) OV - Ovarian serous cystadenocarcinoma(262;0.00553)|GBM - Glioblastoma multiforme(486;0.131)|Epithelial(262;0.197) GGGTGGAAGCCGGCTGAGCGG 0.612000 5 27 0 0 1 0 0 PDZD9 255762 broad.mit.edu 37 16 21995685 21995685 + Missense_Mutation SNP G G A TCGA-CV-A45R-01A-11D-A24D-08 TCGA-CV-A45R-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ca16f0b-5471-40a1-976d-409a8bea7c0c 1d6f4a43-d1b5-4c30-aec7-ad78a5d6c5b8 g.chr16:21995685G>A ENST00000286143.6 - 5 833 c.512C>T c.(511-513)tCt>tTt p.S171F PDZD9_ENST00000537222.2_Missense_Mutation_p.S173F|PDZD9_ENST00000424898.2_Missense_Mutation_p.S233F Q8IXQ8 PDZD9_HUMAN PDZ domain containing 9 233 breast(3)|endometrium(2)|lung(3)|pancreas(1) 9 AGAGGAGGAAGAGCTTTCATT 0.448000 47 208 0 0 1 0 0 DSG3 1830 broad.mit.edu 37 18 29055668 29055668 + Silent SNP C C A TCGA-CV-A45R-01A-11D-A24D-08 TCGA-CV-A45R-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ca16f0b-5471-40a1-976d-409a8bea7c0c 1d6f4a43-d1b5-4c30-aec7-ad78a5d6c5b8 g.chr18:29055668C>A ENST00000257189.4 + 16 2528 c.2445C>A c.(2443-2445)atC>atA p.I815I NM_001944.2 NP_001935.2 P32926 DSG3_HUMAN desmoglein 3 815 cellular component disassembly involved in apoptosis|homophilic cell adhesion cytosol|desmosome|integral to membrane calcium ion binding breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(28)|ovary(4)|prostate(1)|skin(8)|upper_aerodigestive_tract(1) 62 OV - Ovarian serous cystadenocarcinoma(10;0.00504) GCTTGTTGATCTATGATAATG 0.453000 27 43 2.24059e-21 2.42226e-21 1 1 0 CNTNAP4 85445 broad.mit.edu 37 16 76572189 76572189 + Missense_Mutation SNP G G C TCGA-CV-A45R-01A-11D-A24D-08 TCGA-CV-A45R-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ca16f0b-5471-40a1-976d-409a8bea7c0c 1d6f4a43-d1b5-4c30-aec7-ad78a5d6c5b8 g.chr16:76572189G>C ENST00000307431.8 + 20 3554 c.3169G>C c.(3169-3171)Gtg>Ctg p.V1057L CNTNAP4_ENST00000377504.4_Missense_Mutation_p.V1009L|CNTNAP4_ENST00000469589.1_3'UTR|CNTNAP4_ENST00000478060.1_Missense_Mutation_p.V985L|CNTNAP4_ENST00000476707.1_Missense_Mutation_p.V1061L NM_033401.3 NP_207837.2 Q9C0A0 CNTP4_HUMAN contactin associated protein-like 4 1058 Laminin G-like 4. cell adhesion|signal transduction integral to membrane receptor binding breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1) 64 GCTGCTTTTTGTGAGCTCCTT 0.388000 16 81 0 0 1 0 0 COL21A1 81578 broad.mit.edu 37 6 56006598 56006598 + Silent SNP C C T TCGA-CV-A45R-01A-11D-A24D-08 TCGA-CV-A45R-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ca16f0b-5471-40a1-976d-409a8bea7c0c 1d6f4a43-d1b5-4c30-aec7-ad78a5d6c5b8 g.chr6:56006598C>T ENST00000244728.5 - 12 1924 c.1527G>A c.(1525-1527)ggG>ggA p.G509G COL21A1_ENST00000370819.1_Silent_p.G506G|COL21A1_ENST00000535941.1_Silent_p.G509G NM_030820.3 NP_110447.2 Q96P44 COLA1_HUMAN collagen, type XXI, alpha 1 509 cell adhesion collagen|cytoplasm structural molecule activity breast(1)|endometrium(1)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|prostate(2) 41 Lung NSC(77;0.0483) LUSC - Lung squamous cell carcinoma(124;0.181) CACCATCTCGCCCTGGTTCTC 0.358000 20 39 0 0 1 0 0 WNT9A 7483 broad.mit.edu 37 1 228109449 228109449 + Missense_Mutation SNP C C T TCGA-CV-A45R-01A-11D-A24D-08 TCGA-CV-A45R-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ca16f0b-5471-40a1-976d-409a8bea7c0c 1d6f4a43-d1b5-4c30-aec7-ad78a5d6c5b8 g.chr1:228109449C>T ENST00000272164.5 - 4 878 c.868G>A c.(868-870)Gtg>Atg p.V290M WNT9A_ENST00000497852.1_Intron NM_003395.2 NP_003386.1 O14904 WNT9A_HUMAN wingless-type MMTV integration site family, member 9A 290 anterior/posterior pattern formation|axis specification|canonical Wnt receptor signaling pathway|cell-cell signaling|cellular response to retinoic acid|cornea development in camera-type eye|embryonic arm morphogenesis|embryonic skeletal joint morphogenesis|endoderm development|iris morphogenesis|mitotic cell cycle G1/S transition checkpoint|negative regulation of cell proliferation|negative regulation of chondrocyte differentiation|neuron differentiation|positive regulation of smoothened signaling pathway|Wnt receptor signaling pathway, calcium modulating pathway extracellular space|plasma membrane|proteinaceous extracellular matrix extracellular matrix structural constituent|G-protein-coupled receptor binding|signal transducer activity breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|pancreas(1)|prostate(2)|skin(1) 19 Prostate(94;0.0405) TCCAGGTGCACCAGCTCTGGA 0.692000 13 59 0 0 1 0 0 MEF2A 4205 broad.mit.edu 37 15 100211631 100211631 + Missense_Mutation SNP A A T TCGA-CV-A45R-01A-11D-A24D-08 TCGA-CV-A45R-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ca16f0b-5471-40a1-976d-409a8bea7c0c 1d6f4a43-d1b5-4c30-aec7-ad78a5d6c5b8 g.chr15:100211631A>T ENST00000338042.6 + 4 681 c.362A>T c.(361-363)gAt>gTt p.D121V MEF2A_ENST00000558812.1_Missense_Mutation_p.D53V|MEF2A_ENST00000453228.2_Missense_Mutation_p.D121V|MEF2A_ENST00000354410.5_Intron|MEF2A_ENST00000449277.2_Missense_Mutation_p.D53V|MEF2A_ENST00000557942.1_Missense_Mutation_p.D121V|MEF2A_ENST00000557785.1_Missense_Mutation_p.D121V Q02078 MEF2A_HUMAN myocyte enhancer factor 2A 121 apoptosis|BMK cascade|cardiac conduction|cellular response to calcium ion|dendrite morphogenesis|innate immune response|mitochondrial genome maintenance|mitochondrion distribution|muscle organ development|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|positive regulation of muscle cell differentiation|positive regulation of transcription from RNA polymerase II promoter|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|ventricular cardiac myofibril development nuclear chromatin|nucleoplasm activating transcription factor binding|histone acetyltransferase binding|histone deacetylase binding|protein heterodimerization activity|RNA polymerase II regulatory region sequence-specific DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity|SMAD binding endometrium(2)|large_intestine(2)|lung(7)|ovary(1) 12 Lung NSC(78;0.00335)|all_lung(78;0.00659)|Melanoma(26;0.00778)|Medulloblastoma(229;0.163) OV - Ovarian serous cystadenocarcinoma(32;0.00085) CTAAATGAAGATAGTGATTTT 0.368000 10 60 0 0 1 0 0 ABCC9 10060 broad.mit.edu 37 12 22068678 22068678 + Missense_Mutation SNP G G A TCGA-CV-A45R-01A-11D-A24D-08 TCGA-CV-A45R-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ca16f0b-5471-40a1-976d-409a8bea7c0c 1d6f4a43-d1b5-4c30-aec7-ad78a5d6c5b8 g.chr12:22068678G>A ENST00000261200.4 - 5 739 c.740C>T c.(739-741)gCa>gTa p.A247V ABCC9_ENST00000345162.2_Missense_Mutation_p.A247V|ABCC9_ENST00000261201.4_Missense_Mutation_p.A247V NM_020297.2 NP_064693.2 O60706 ABCC9_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 9 247 defense response to virus|potassium ion import ATP-sensitive potassium channel complex ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5) 118 Adenosine triphosphate(DB00171)|Glibenclamide(DB01016) TTTTCCAATTGCCTTCAGATC 0.363000 31 46 0 0 1 0 0 ACTN3 89 broad.mit.edu 37 11 66329094 66329094 + RNA SNP G G A TCGA-CV-A45R-01A-11D-A24D-08 TCGA-CV-A45R-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ca16f0b-5471-40a1-976d-409a8bea7c0c 1d6f4a43-d1b5-4c30-aec7-ad78a5d6c5b8 g.chr11:66329094G>A ENST00000513398.1 + 0 2258 ACTN3_ENST00000502692.1_RNA NM_001104.2 NP_001095.1 Q08043 ACTN3_HUMAN actinin, alpha 3 (gene/pseudogene) focal adhesion assembly|muscle filament sliding|regulation of apoptosis actin filament|cytosol|focal adhesion|pseudopodium actin binding|calcium ion binding|integrin binding|protein homodimerization activity|structural constituent of muscle breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(2) 10 TAAGCACACCGTCTACAGCAT 0.567000 15 12 0 0 1 0 0 SLC30A10 55532 broad.mit.edu 37 1 220088829 220088829 + Missense_Mutation SNP G G C TCGA-CV-A45R-01A-11D-A24D-08 TCGA-CV-A45R-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ca16f0b-5471-40a1-976d-409a8bea7c0c 1d6f4a43-d1b5-4c30-aec7-ad78a5d6c5b8 g.chr1:220088829G>C ENST00000366926.3 - 4 1581 c.1420C>G c.(1420-1422)Cag>Gag p.Q474E SLC30A10_ENST00000536446.1_Missense_Mutation_p.Q229E|SLC30A10_ENST00000484079.1_5'UTR NM_018713.2 NP_061183.2 Q6XR72 ZNT10_HUMAN solute carrier family 30, member 10 474 zinc ion transport integral to membrane|plasma membrane cation transmembrane transporter activity NS(1)|endometrium(1)|large_intestine(1)|lung(9)|skin(1) 13 GBM - Glioblastoma multiforme(131;0.051)|all cancers(67;0.209) TGGTCCTCCTGAGTTTTGTTA 0.448000 53 147 0 0 1 0 0 TP53 7157 broad.mit.edu 37 17 7577106 7577106 + Missense_Mutation SNP G G A rs17849781 TCGA-CV-A45R-01A-11D-A24D-08 TCGA-CV-A45R-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ca16f0b-5471-40a1-976d-409a8bea7c0c 1d6f4a43-d1b5-4c30-aec7-ad78a5d6c5b8 g.chr17:7577106G>A ENST00000420246.2 - 8 964 c.832C>T c.(832-834)Cct>Tct p.P278S TP53_ENST00000413465.2_Intron|TP53_ENST00000445888.2_Missense_Mutation_p.P278S|TP53_ENST00000269305.4_Missense_Mutation_p.P278S|TP53_ENST00000455263.2_Missense_Mutation_p.P278S|TP53_ENST00000359597.4_Missense_Mutation_p.P278S NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 278 Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity). P -> A (in sporadic cancers; somatic mutation; dbSNP:rs17849781).|P -> F (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|P -> H (in sporadic cancers; somatic mutation).|P -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|P -> R (in sporadic cancers; somatic mutation).|P -> S (in LFS; germline mutation and in sporadic cancers; somatic mutation).|P -> T (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.P278S(55)|p.P278A(24)|p.P278T(23)|p.0?(8)|p.P278F(3)|p.P278fs*67(3)|p.?(2)|p.P278fs*28(2)|p.A276_R283delACPGRDRR(1)|p.C275fs*20(1)|p.A276fs*64(1)|p.L265_K305del41(1)|p.F270_D281del12(1)|p.C275fs*67(1)|p.V274_P278del(1)|p.S269fs*21(1)|p.C277_P278insXXXXXXX(1)|p.V272_K292del21(1)|p.C275_R283delCACPGRDRR(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) TCTCTCCCAGGACAGGCACAA 0.552000 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) 31 18 0 0 1 0 0 TRPV1 7442 broad.mit.edu 37 17 3493397 3493397 + Nonsense_Mutation SNP C C A TCGA-CV-A45R-01A-11D-A24D-08 TCGA-CV-A45R-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ca16f0b-5471-40a1-976d-409a8bea7c0c 1d6f4a43-d1b5-4c30-aec7-ad78a5d6c5b8 g.chr17:3493397C>A ENST00000174621.6 - 5 1031 c.742G>T c.(742-744)Gaa>Taa p.E248* SHPK_ENST00000572705.1_Nonsense_Mutation_p.E250*|TRPV1_ENST00000399759.3_Nonsense_Mutation_p.E250*|TRPV1_ENST00000571088.1_Nonsense_Mutation_p.E250*|TRPV1_ENST00000425167.2_Nonsense_Mutation_p.E250*|TRPV1_ENST00000310522.5_Nonsense_Mutation_p.E250*|TRPV1_ENST00000576351.1_Nonsense_Mutation_p.E250*|TRPV1_ENST00000399756.4_Nonsense_Mutation_p.E250* Q8NER1 TRPV1_HUMAN transient receptor potential cation channel, subfamily V, member 1 250 cell surface receptor linked signaling pathway|chemosensory behavior|thermoception cell junction|dendritic spine membrane|integral to plasma membrane|postsynaptic membrane ATP binding|calcium channel activity|calmodulin binding central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1) 17 Lung(1;0.055)|COAD - Colon adenocarcinoma(5;0.0896)|LUAD - Lung adenocarcinoma(1115;0.131) Alpha-Linolenic Acid(DB00132)|Aspartame(DB00168)|Icosapent(DB00159) AGGGGCAGTTCACCTGCATGA 0.642000 13 10 4.36969e-10 4.59967e-10 1 1 0 SUCO 51430 broad.mit.edu 37 1 172558867 172558867 + Missense_Mutation SNP C C G TCGA-CV-A45R-01A-11D-A24D-08 TCGA-CV-A45R-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ca16f0b-5471-40a1-976d-409a8bea7c0c 1d6f4a43-d1b5-4c30-aec7-ad78a5d6c5b8 g.chr1:172558867C>G ENST00000367723.3 + 17 3206 c.3082C>G c.(3082-3084)Ctt>Gtt p.L1028V SUCO_ENST00000263688.3_Missense_Mutation_p.L876V NM_016227.2 NP_057311.2 SUN domain containing ossification factor AGAAGATGCCCTTTTGAGAGG 0.363000 44 88 0 0 1 0 0 SEZ6L 23544 broad.mit.edu 37 22 26688728 26688728 + Missense_Mutation SNP T T C TCGA-CV-A45R-01A-11D-A24D-08 TCGA-CV-A45R-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ca16f0b-5471-40a1-976d-409a8bea7c0c 1d6f4a43-d1b5-4c30-aec7-ad78a5d6c5b8 g.chr22:26688728T>C ENST00000529632.2 + 2 647 c.451T>C c.(451-453)Tcc>Ccc p.S151P SEZ6L_ENST00000248933.6_Missense_Mutation_p.S151P|SEZ6L_ENST00000403121.1_5'UTR|SEZ6L_ENST00000402979.1_5'UTR|SEZ6L_ENST00000404234.3_Missense_Mutation_p.S151P|SEZ6L_ENST00000360929.3_Missense_Mutation_p.S151P|SEZ6L_ENST00000343706.4_Missense_Mutation_p.S151P NM_001184774.1|NM_001184775.1|NM_001184777.1 NP_001171703.1|NP_001171704.1|NP_001171706.1 Q9BYH1 SE6L1_HUMAN seizure related 6 homolog (mouse)-like 151 endoplasmic reticulum membrane|integral to membrane breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(35)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 80 CCAGCCAGCGTCCCAGGGCCT 0.662000 7 50 0 0 1 0 0 RUNX1T1 862 broad.mit.edu 37 8 93029456 93029456 + Missense_Mutation SNP G G A TCGA-CV-A45R-01A-11D-A24D-08 TCGA-CV-A45R-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ca16f0b-5471-40a1-976d-409a8bea7c0c 1d6f4a43-d1b5-4c30-aec7-ad78a5d6c5b8 g.chr8:93029456G>A ENST00000523629.1 - 3 678 c.224C>T c.(223-225)aCg>aTg p.T75M RUNX1T1_ENST00000518844.1_Missense_Mutation_p.T48M|RUNX1T1_ENST00000520724.1_Missense_Mutation_p.T38M|RUNX1T1_ENST00000521553.1_Missense_Mutation_p.T38M|RUNX1T1_ENST00000360348.2_Missense_Mutation_p.T38M|RUNX1T1_ENST00000265814.3_Missense_Mutation_p.T75M|RUNX1T1_ENST00000422361.2_Missense_Mutation_p.T38M|RUNX1T1_ENST00000436581.2_Missense_Mutation_p.T86M|RUNX1T1_ENST00000396218.1_Missense_Mutation_p.T48M NM_001198626.1|NM_001198630.1|NM_001198633.1|NM_175634.2 NP_001185555.1|NP_001185559.1|NP_001185562.1|NP_783552.1 Q06455 MTG8_HUMAN runt-related transcription factor 1; translocated to, 1 (cyclin D-related) 75 generation of precursor metabolites and energy nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(54)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2) 86 BRCA - Breast invasive adenocarcinoma(11;0.0141) CTACTTACACGTTGTCGGTGT 0.388000 29 64 0 0 1 0 0 ADAM32 203102 broad.mit.edu 37 8 39080613 39080613 + Missense_Mutation SNP G G A TCGA-CV-A45R-01A-11D-A24D-08 TCGA-CV-A45R-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ca16f0b-5471-40a1-976d-409a8bea7c0c 1d6f4a43-d1b5-4c30-aec7-ad78a5d6c5b8 g.chr8:39080613G>A ENST00000379907.4 + 14 1508 c.1381G>A c.(1381-1383)Gct>Act p.A461T ADAM32_ENST00000519315.1_Missense_Mutation_p.A355T|ADAM32_ENST00000437682.2_Missense_Mutation_p.A362T NM_145004.5 NP_659441.3 Q8TC27 ADA32_HUMAN ADAM metallopeptidase domain 32 461 Disintegrin. proteolysis integral to membrane metalloendopeptidase activity|zinc ion binding breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2) 31 all_cancers(7;3e-05)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00771)|Breast(189;0.0503) LUSC - Lung squamous cell carcinoma(45;6.2e-07)|Colorectal(1;0.00699)|READ - Rectum adenocarcinoma(1;0.146) ATGTGACATCGCTGAAAATTG 0.338000 10 9 0 0 1 0 0 PHKG2 5261 broad.mit.edu 37 16 30764756 30764756 + Missense_Mutation SNP A A G TCGA-CV-A45R-01A-11D-A24D-08 TCGA-CV-A45R-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ca16f0b-5471-40a1-976d-409a8bea7c0c 1d6f4a43-d1b5-4c30-aec7-ad78a5d6c5b8 g.chr16:30764756A>G ENST00000563588.1 + 6 673 c.434A>G c.(433-435)cAt>cGt p.H145R PHKG2_ENST00000424889.3_Missense_Mutation_p.H145R|PHKG2_ENST00000328273.7_Missense_Mutation_p.H145R NM_000294.2 NP_000285.1 P15735 PHKG2_HUMAN phosphorylase kinase, gamma 2 (testis) 145 Protein kinase. glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process cytosol ATP binding|calmodulin binding|phosphorylase kinase activity ovary(1)|skin(1) 2 Colorectal(24;0.198) AGCTTTCTCCATGCCAACAAC 0.557000 18 38 0 0 1 0 0 WDFY3 23001 broad.mit.edu 37 4 85708805 85708805 + Missense_Mutation SNP G G A TCGA-CV-A45R-01A-11D-A24D-08 TCGA-CV-A45R-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ca16f0b-5471-40a1-976d-409a8bea7c0c 1d6f4a43-d1b5-4c30-aec7-ad78a5d6c5b8 g.chr4:85708805G>A ENST00000322366.6 - 23 4138 c.3731C>T c.(3730-3732)aCg>aTg p.T1244M WDFY3_ENST00000295888.4_Missense_Mutation_p.T1244M Q8IZQ1 WDFY3_HUMAN WD repeat and FYVE domain containing 3 1244 cytoplasmic part|extrinsic to membrane|nuclear envelope 1-phosphatidylinositol binding|metal ion binding|protein binding breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 134 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;0.000808) GGCATAGACCGTGCTCACCAC 0.483000 15 42 0 0 1 0 0 DZANK1 55184 broad.mit.edu 37 20 18440913 18440913 + Silent SNP G G T TCGA-CV-A45R-01A-11D-A24D-08 TCGA-CV-A45R-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ca16f0b-5471-40a1-976d-409a8bea7c0c 1d6f4a43-d1b5-4c30-aec7-ad78a5d6c5b8 g.chr20:18440913G>T ENST00000262547.5 - 3 355 c.147C>A c.(145-147)ggC>ggA p.G49G DZANK1_ENST00000357236.4_5'UTR|DZANK1_ENST00000329494.5_Silent_p.G49G|DZANK1_ENST00000377630.5_5'UTR NM_001099407.1 NP_001092877.1 Q9NVP4 CT012_HUMAN double zinc ribbon and ankyrin repeat domains 1 0 intracellular zinc ion binding NS(1)|cervix(1)|endometrium(2)|large_intestine(5)|lung(10) 19 CAGGTTTGCTGCCATCCAGAG 0.333000 3 8 0.004672 0.00471126 1 1 0 GARNL3 84253 broad.mit.edu 37 9 130027240 130027240 + Silent SNP G G A rs141855938 TCGA-CV-A45R-01A-11D-A24D-08 TCGA-CV-A45R-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ca16f0b-5471-40a1-976d-409a8bea7c0c 1d6f4a43-d1b5-4c30-aec7-ad78a5d6c5b8 g.chr9:130027240G>A ENST00000373387.4 + 1 436 c.84G>A c.(82-84)tcG>tcA p.S28S GARNL3_ENST00000314904.5_Silent_p.S28S|GARNL3_ENST00000435213.2_Silent_p.S6S NM_032293.4 NP_115669.3 Q5VVW2 GARL3_HUMAN GTPase activating Rap/RanGAP domain-like 3 28 regulation of small GTPase mediated signal transduction intracellular GTPase activator activity|small GTPase regulator activity NS(1)|central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(24)|ovary(1)|skin(1)|urinary_tract(2) 41 GCTCTGTCTCGGAAGACCTAG 0.423000 21 109 0 0 1 0 0 RAD51C 5889 broad.mit.edu 37 17 56772397 56772397 + Missense_Mutation SNP A A T TCGA-CV-A45R-01A-11D-A24D-08 TCGA-CV-A45R-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ca16f0b-5471-40a1-976d-409a8bea7c0c 1d6f4a43-d1b5-4c30-aec7-ad78a5d6c5b8 g.chr17:56772397A>T ENST00000337432.4 + 2 322 c.251A>T c.(250-252)aAg>aTg p.K84M RAD51C_ENST00000583539.1_Missense_Mutation_p.K84M|RAD51C_ENST00000421782.2_Missense_Mutation_p.K84M|RAD51C_ENST00000487921.1_3'UTR NM_058216.1 NP_478123.1 O43502 RA51C_HUMAN RAD51 paralog C 84 blood coagulation|DNA repair mitochondrion|nucleoplasm|perinuclear region of cytoplasm ATP binding|DNA binding|DNA-dependent ATPase activity upper_aerodigestive_tract(1) 1 Medulloblastoma(34;0.127)|all_neural(34;0.237) TCACACAAGAAGTGTACAGCA 0.433000 Homologous recombination Hereditary Breast-Ovarian Cancer, non-BRCA1/2 20 52 0 0 1 0 0 MYF5 4617 broad.mit.edu 37 12 81112670 81112670 + Missense_Mutation SNP G G A TCGA-CV-A45R-01A-11D-A24D-08 TCGA-CV-A45R-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ca16f0b-5471-40a1-976d-409a8bea7c0c 1d6f4a43-d1b5-4c30-aec7-ad78a5d6c5b8 g.chr12:81112670G>A ENST00000228644.3 + 3 760 c.608G>A c.(607-609)aGc>aAc p.S203N NM_005593.2 NP_005584.2 P13349 MYF5_HUMAN myogenic factor 5 203 muscle cell fate commitment|positive regulation of muscle cell differentiation|skeletal muscle tissue development nucleoplasm DNA binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(8)|lung(15)|ovary(2)|pancreas(1) 30 TCCTTATCCAGCTTGGATTGC 0.448000 10 88 0 0 1 0 0 CNKSR1 10256 broad.mit.edu 37 1 26510920 26510920 + Silent SNP G G A TCGA-CV-A45R-01A-11D-A24D-08 TCGA-CV-A45R-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ca16f0b-5471-40a1-976d-409a8bea7c0c 1d6f4a43-d1b5-4c30-aec7-ad78a5d6c5b8 g.chr1:26510920G>A ENST00000531191.1 + 11 1262 c.255G>A c.(253-255)ctG>ctA p.L85L CNKSR1_ENST00000361530.6_Silent_p.L343L|CNKSR1_ENST00000374253.5_Silent_p.L350L Q969H4 CNKR1_HUMAN connector enhancer of kinase suppressor of Ras 1 350 CRIC. Rho protein signal transduction|transmembrane receptor protein tyrosine kinase signaling pathway cell cortex|cell-cell junction protein binding, bridging breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(8)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1) 28 Colorectal(325;3.46e-05)|all_lung(284;0.000116)|Lung NSC(340;0.000154)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0133)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;2.72e-26)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00072)|BRCA - Breast invasive adenocarcinoma(304;0.000959)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00823)|READ - Rectum adenocarcinoma(331;0.0649) CTGAGCCCCTGCCCATCCCCC 0.637000 14 19 0 0 1 0 0 GPATCH8 23131 broad.mit.edu 37 17 42475271 42475271 + Missense_Mutation SNP C C T TCGA-CV-A45R-01A-11D-A24D-08 TCGA-CV-A45R-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ca16f0b-5471-40a1-976d-409a8bea7c0c 1d6f4a43-d1b5-4c30-aec7-ad78a5d6c5b8 g.chr17:42475271C>T ENST00000434000.1 - 9 4222 c.3940G>A c.(3940-3942)Ggc>Agc p.G1314S GPATCH8_ENST00000591680.1_Missense_Mutation_p.G1392S Q9UKJ3 GPTC8_HUMAN G patch domain containing 8 1392 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) GGGTGAATGCCGATGGCGGCA 0.567000 11 48 0 0 1 0 0 PROX1 5629 broad.mit.edu 37 1 214171118 214171118 + Missense_Mutation SNP G G A TCGA-CV-A45R-01A-11D-A24D-08 TCGA-CV-A45R-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ca16f0b-5471-40a1-976d-409a8bea7c0c 1d6f4a43-d1b5-4c30-aec7-ad78a5d6c5b8 g.chr1:214171118G>A ENST00000366958.4 + 2 1848 c.1240G>A c.(1240-1242)Gac>Aac p.D414N PROX1_ENST00000435016.1_Missense_Mutation_p.D414N|PROX1_ENST00000261454.4_Missense_Mutation_p.D414N|PROX1_ENST00000498508.2_Missense_Mutation_p.D414N NM_001270616.1 NP_001257545.1 Q92786 PROX1_HUMAN prospero homeobox 1 414 aorta smooth muscle tissue morphogenesis|atrial cardiac muscle tissue morphogenesis|brain development|dorsal spinal cord development|embryonic retina morphogenesis in camera-type eye|endocardium formation|hepatocyte differentiation|kidney development|lens fiber cell morphogenesis|lung development|lymphangiogenesis|negative regulation of bile acid biosynthetic process|negative regulation of cell proliferation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of viral genome replication|neural tube development|olfactory placode formation|optic placode formation involved in camera-type eye formation|otic placode formation|pancreas development|positive regulation of cyclin-dependent protein kinase activity|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of heart growth|positive regulation of S phase of mitotic cell cycle|positive regulation of sarcomere organization|positive regulation of transcription, DNA-dependent|regulation of transcription involved in lymphatic endothelial cell fate commitment|skeletal muscle thin filament assembly|venous blood vessel morphogenesis|ventricular cardiac muscle tissue morphogenesis|ventricular cardiac myofibril development|ventricular septum morphogenesis cytoplasm|nucleus DBD domain binding|LBD domain binding|ligand-dependent nuclear receptor binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|prostate(2)|skin(4) 47 OV - Ovarian serous cystadenocarcinoma(81;0.0179)|all cancers(67;0.0488)|GBM - Glioblastoma multiforme(131;0.188)|Epithelial(68;0.219) GTGCTTTGGCGACGTCATCAT 0.562000 54 110 0 0 1 0 0 ENPEP 2028 broad.mit.edu 37 4 111397844 111397844 + Nonsense_Mutation SNP C C T rs143343563 TCGA-CV-A45R-01A-11D-A24D-08 TCGA-CV-A45R-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ca16f0b-5471-40a1-976d-409a8bea7c0c 1d6f4a43-d1b5-4c30-aec7-ad78a5d6c5b8 g.chr4:111397844C>T ENST00000265162.5 + 1 616 c.274C>T c.(274-276)Cga>Tga p.R92* NM_001977.3 NP_001968.3 Q07075 AMPE_HUMAN glutamyl aminopeptidase (aminopeptidase A) 92 cell migration|cell proliferation|cell-cell signaling|proteolysis integral to plasma membrane aminopeptidase activity|metalloexopeptidase activity|zinc ion binding breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(1) 54 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;0.0031) L-Glutamic Acid(DB00142) GAAAAACTTTCGACTGCCGGA 0.612000 15 97 0 0 1 0 0 GPR45 11250 broad.mit.edu 37 2 105858983 105858983 + Missense_Mutation SNP G G A TCGA-CV-A45R-01A-11D-A24D-08 TCGA-CV-A45R-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ca16f0b-5471-40a1-976d-409a8bea7c0c 1d6f4a43-d1b5-4c30-aec7-ad78a5d6c5b8 g.chr2:105858983G>A ENST00000258456.1 + 1 784 c.668G>A c.(667-669)cGc>cAc p.R223H NM_007227.3 NP_009158.3 Q9Y5Y3 GPR45_HUMAN G protein-coupled receptor 45 223 integral to membrane|plasma membrane G-protein coupled receptor activity|protein binding breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(10)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1) 28 AACACGGTCCGCAAGAACGCC 0.677000 28 42 0 0 1 0 0 TVP23C 201158 broad.mit.edu 37 17 15441469 15441469 + Splice_Site SNP C C T rs139351610 by1000genomes TCGA-CV-A45R-01A-11D-A24D-08 TCGA-CV-A45R-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ca16f0b-5471-40a1-976d-409a8bea7c0c 1d6f4a43-d1b5-4c30-aec7-ad78a5d6c5b8 g.chr17:15441469C>T ENST00000584811.1 - 7 1815 c.e7-2 TVP23C_ENST00000438826.3_Splice_Site|TVP23C_ENST00000519970.1_Intron|TVP23C_ENST00000428082.2_Splice_Site|TVP23C-CDRT4_ENST00000522212.2_Intron|TVP23C_ENST00000225576.3_Intron trans-golgi network vesicle protein 23 homolog C (S. cerevisiae) TCCAGTGTTCCGCAAAAGACA 0.393000 4 72 0 0 1 0 0 LRFN5 145581 broad.mit.edu 37 14 42360709 42360709 + Silent SNP C C T TCGA-CV-A45R-01A-11D-A24D-08 TCGA-CV-A45R-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ca16f0b-5471-40a1-976d-409a8bea7c0c 1d6f4a43-d1b5-4c30-aec7-ad78a5d6c5b8 g.chr14:42360709C>T ENST00000298119.4 + 4 2831 c.1642C>T c.(1642-1644)Ctg>Ttg p.L548L LRFN5_ENST00000554120.1_Intron|LRFN5_ENST00000554171.1_Intron NM_152447.3 NP_689660.2 Q96NI6 LRFN5_HUMAN leucine rich repeat and fibronectin type III domain containing 5 548 integral to membrane breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(67)|ovary(5)|pancreas(3)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(2) 120 LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728) GBM - Glioblastoma multiforme(112;0.00847) CATCATTATTCTGATGATCCG 0.413000 HNSCC(30;0.082) 35 79 0 0 1 0 0 PTCHD1 139411 broad.mit.edu 37 X 23411378 23411378 + Silent SNP G G A TCGA-CV-A45R-01A-11D-A24D-08 TCGA-CV-A45R-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ca16f0b-5471-40a1-976d-409a8bea7c0c 1d6f4a43-d1b5-4c30-aec7-ad78a5d6c5b8 g.chrX:23411378G>A ENST00000379361.4 + 3 2603 c.1743G>A c.(1741-1743)ggG>ggA p.G581G NM_173495.2 NP_775766.2 Q96NR3 PTHD1_HUMAN patched domain containing 1 581 cognition|smoothened signaling pathway integral to membrane|plasma membrane hedgehog receptor activity NS(1)|breast(4)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|ovary(4)|skin(2)|urinary_tract(2) 42 ACACCAAGGGGTTTGTGCGGA 0.393000 24 69 0 0 1 0 0 RP11-423O2.5 0 broad.mit.edu 37 1 142803783 142803783 + RNA SNP A A T TCGA-CV-A45R-01A-11D-A24D-08 TCGA-CV-A45R-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ca16f0b-5471-40a1-976d-409a8bea7c0c 1d6f4a43-d1b5-4c30-aec7-ad78a5d6c5b8 g.chr1:142803783A>T ENST00000423385.1 - 0 1182 atagttaacaaagtagctggc 0.403000 3 6 0 0 1 0 0 CNTN4 152330 broad.mit.edu 37 3 2928746 2928746 + Nonsense_Mutation SNP C C T TCGA-CV-A45R-01A-11D-A24D-08 TCGA-CV-A45R-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ca16f0b-5471-40a1-976d-409a8bea7c0c 1d6f4a43-d1b5-4c30-aec7-ad78a5d6c5b8 g.chr3:2928746C>T ENST00000397461.1 + 9 1162 c.778C>T c.(778-780)Cga>Tga p.R260* CNTN4_ENST00000418658.1_Nonsense_Mutation_p.R260*|CNTN4_ENST00000358480.3_Nonsense_Mutation_p.R41*|CNTN4_ENST00000427331.1_Nonsense_Mutation_p.R260* NM_001206955.1 NP_001193884.1 Q8IWV2 CNTN4_HUMAN contactin 4 260 Ig-like C2-type 3. axon guidance|axonal fasciculation|brain development|negative regulation of neuron differentiation|neuron cell-cell adhesion|regulation of synaptic plasticity anchored to membrane|axon|extracellular region|plasma membrane protein binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 61 Ovarian(110;0.156) Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01) TATTATCTGGCGAAGAGCTGA 0.398000 3 9 0 0 1 0 0 SPATA31D5P 347127 broad.mit.edu 37 9 84534433 84534433 + RNA SNP C C T TCGA-CV-A45R-01A-11D-A24D-08 TCGA-CV-A45R-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ca16f0b-5471-40a1-976d-409a8bea7c0c 1d6f4a43-d1b5-4c30-aec7-ad78a5d6c5b8 g.chr9:84534433C>T ENST00000527857.1 + 0 4455 NR_026851.1 CAGGGCTATCCCCGCAACTAC 0.502000 7 26 0 0 1 0 0 COL6A6 131873 broad.mit.edu 37 3 130287049 130287049 + Missense_Mutation SNP G G A TCGA-CV-A45R-01A-11D-A24D-08 TCGA-CV-A45R-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ca16f0b-5471-40a1-976d-409a8bea7c0c 1d6f4a43-d1b5-4c30-aec7-ad78a5d6c5b8 g.chr3:130287049G>A ENST00000358511.6 + 5 2033 c.2002G>A c.(2002-2004)Gac>Aac p.D668N COL6A6_ENST00000453409.2_Missense_Mutation_p.D668N NM_001102608.1 NP_001096078.1 A6NMZ7 CO6A6_HUMAN collagen, type VI, alpha 6 668 Nonhelical region.|VWFA 4. axon guidance|cell adhesion collagen p.D668N(1) NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 134 CCAGTTCAGCGACATCAATAA 0.423000 16 133 0 0 1 0 0 HIST2H2AB 317772 broad.mit.edu 37 1 149859278 149859278 + Silent SNP A A G TCGA-CV-A45R-01A-11D-A24D-08 TCGA-CV-A45R-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ca16f0b-5471-40a1-976d-409a8bea7c0c 1d6f4a43-d1b5-4c30-aec7-ad78a5d6c5b8 g.chr1:149859278A>G ENST00000331128.3 - 1 188 c.189T>C c.(187-189)atT>atC p.I63I NM_175065.2 NP_778235.1 Q8IUE6 H2A2B_HUMAN histone cluster 2, H2ab 63 nucleosome assembly nucleosome|nucleus DNA binding p.I63I(1) breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1) 15 Breast(34;0.0124)|all_hematologic(923;0.127) STAD - Stomach adenocarcinoma(528;0.133)|LUSC - Lung squamous cell carcinoma(543;0.221) CCAGCTCCAGAATTTCCGCGG 0.637000 7 103 0 0 1 0 0 PADI3 51702 broad.mit.edu 37 1 17603149 17603149 + Silent SNP C C G TCGA-CV-A45R-01A-11D-A24D-08 TCGA-CV-A45R-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ca16f0b-5471-40a1-976d-409a8bea7c0c 1d6f4a43-d1b5-4c30-aec7-ad78a5d6c5b8 g.chr1:17603149C>G ENST00000375460.3 + 12 1483 c.1443C>G c.(1441-1443)ccC>ccG p.P481P NM_016233.2 NP_057317.2 Q9ULW8 PADI3_HUMAN peptidyl arginine deiminase, type III 481 peptidyl-citrulline biosynthetic process from peptidyl-arginine cytoplasm calcium ion binding|protein-arginine deiminase activity p.P481P(1) breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|liver(2)|lung(10)|ovary(2)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;1.17e-05)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189) L-Citrulline(DB00155) TCCCTGCCCCCGATGGGAAGG 0.597000 15 116 0 0 1 0 0 SCARF1 8578 broad.mit.edu 37 17 1538598 1538598 + Silent SNP C C T TCGA-CV-A45R-01A-11D-A24D-08 TCGA-CV-A45R-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ca16f0b-5471-40a1-976d-409a8bea7c0c 1d6f4a43-d1b5-4c30-aec7-ad78a5d6c5b8 g.chr17:1538598C>T ENST00000263071.4 - 11 1996 c.1947G>A c.(1945-1947)gcG>gcA p.A649A SCARF1_ENST00000571272.1_3'UTR|SCARF1_ENST00000348987.3_Silent_p.A563A NM_003693.2|NM_145350.1 NP_003684.2|NP_663325.1 Q14162 SREC_HUMAN scavenger receptor class F, member 1 649 Gly-rich. cell adhesion|neuron remodeling|positive regulation of axon regeneration|receptor-mediated endocytosis integral to membrane low-density lipoprotein particle binding|scavenger receptor activity cervix(1)|endometrium(3)|kidney(2)|lung(9)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 20 UCEC - Uterine corpus endometrioid carcinoma (25;0.0822) GACTGGCAGCCGCCGGAAAGG 0.701000 6 48 0 0 1 0 0 KCNG4 93107 broad.mit.edu 37 16 84271067 84271067 + Missense_Mutation SNP C C T TCGA-CV-A45R-01A-11D-A24D-08 TCGA-CV-A45R-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ca16f0b-5471-40a1-976d-409a8bea7c0c 1d6f4a43-d1b5-4c30-aec7-ad78a5d6c5b8 g.chr16:84271067C>T ENST00000568181.1 - 2 145 c.25G>A c.(25-27)Ggc>Agc p.G9S KCNG4_ENST00000308251.4_Missense_Mutation_p.G9S Q8TDN1 KCNG4_HUMAN potassium voltage-gated channel, subfamily G, member 4 9 voltage-gated potassium channel complex voltage-gated potassium channel activity breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(3) 31 GGATGCAGGCCCCCGTCTCTG 0.582000 34 60 0 0 1 0 0 P2RX3 5024 broad.mit.edu 37 11 57114618 57114618 + Missense_Mutation SNP A A G TCGA-CV-A45R-01A-11D-A24D-08 TCGA-CV-A45R-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ca16f0b-5471-40a1-976d-409a8bea7c0c 1d6f4a43-d1b5-4c30-aec7-ad78a5d6c5b8 g.chr11:57114618A>G ENST00000263314.2 + 3 318 c.284A>G c.(283-285)aAg>aGg p.K95R NM_002559.3 NP_002550.2 P56373 P2RX3_HUMAN purinergic receptor P2X, ligand-gated ion channel, 3 95 positive regulation of calcium ion transport into cytosol|positive regulation of calcium-mediated signaling integral to plasma membrane ATP binding|extracellular ATP-gated cation channel activity|purinergic nucleotide receptor activity endometrium(4)|kidney(2)|large_intestine(4)|lung(15)|prostate(1) 26 ATCATCACCAAGATGATTGTT 0.483000 5 18 0 0 1 0 0 RIPK4 54101 broad.mit.edu 37 21 43164073 43164073 + Silent SNP C C T TCGA-CV-A45R-01A-11D-A24D-08 TCGA-CV-A45R-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ca16f0b-5471-40a1-976d-409a8bea7c0c 1d6f4a43-d1b5-4c30-aec7-ad78a5d6c5b8 g.chr21:43164073C>T ENST00000352483.2 - 8 1372 c.1308G>A c.(1306-1308)tcG>tcA p.S436S RIPK4_ENST00000332512.3_Silent_p.S388S|RIPK4_ENST00000542057.1_Silent_p.S325S|RIPK4_ENST00000544709.1_Silent_p.S325S Q96T11 Q96T11_HUMAN receptor-interacting serine-threonine kinase 4 388 cytoplasm|nucleus ATP binding|protein serine/threonine kinase activity NS(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 34 CAAAGGACAGCGACAGTGATC 0.627000 21 56 0 0 1 0 0 SLIT2 9353 broad.mit.edu 37 4 20493433 20493433 + Silent SNP C C T TCGA-CV-A45R-01A-11D-A24D-08 TCGA-CV-A45R-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ca16f0b-5471-40a1-976d-409a8bea7c0c 1d6f4a43-d1b5-4c30-aec7-ad78a5d6c5b8 g.chr4:20493433C>T ENST00000504154.1 + 9 1077 c.825C>T c.(823-825)gcC>gcT p.A275A SLIT2_ENST00000503837.1_Silent_p.A279A|SLIT2_ENST00000273739.5_Silent_p.A279A|SLIT2_ENST00000503823.1_Silent_p.A275A NM_004787.1 NP_004778.1 O94813 SLIT2_HUMAN slit homolog 2 (Drosophila) 275 LRRNT 2. apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development cell surface|cytoplasm|extracellular space|plasma membrane calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1) 116 ACTGCCCTGCCGCCTGTACCT 0.418000 21 55 0 0 1 0 0 SYNE1 23345 broad.mit.edu 37 6 152694195 152694195 + Missense_Mutation SNP G G A TCGA-CV-A45R-01A-11D-A24D-08 TCGA-CV-A45R-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ca16f0b-5471-40a1-976d-409a8bea7c0c 1d6f4a43-d1b5-4c30-aec7-ad78a5d6c5b8 g.chr6:152694195G>A ENST00000367255.5 - 59 10085 c.9484C>T c.(9484-9486)Cac>Tac p.H3162Y SYNE1_ENST00000341594.5_Missense_Mutation_p.H3201Y|SYNE1_ENST00000423061.1_Missense_Mutation_p.H3169Y|SYNE1_ENST00000265368.4_Missense_Mutation_p.H3162Y|SYNE1_ENST00000448038.1_Missense_Mutation_p.H3169Y NM_182961.3 NP_892006.3 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 3162 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) TCTTTTTGGTGGAGATTTGAA 0.388000 HNSCC(10;0.0054) 41 118 0 0 1 0 0 FRYL 285527 broad.mit.edu 37 4 48523169 48523169 + Missense_Mutation SNP C C T TCGA-CV-A45R-01A-11D-A24D-08 TCGA-CV-A45R-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ca16f0b-5471-40a1-976d-409a8bea7c0c 1d6f4a43-d1b5-4c30-aec7-ad78a5d6c5b8 g.chr4:48523169C>T ENST00000537810.1 - 55 8189 c.7585G>A c.(7585-7587)Gaa>Aaa p.E2529K FRYL_ENST00000507873.2_5'UTR|FRYL_ENST00000503238.1_Missense_Mutation_p.E2529K|FRYL_ENST00000358350.4_Missense_Mutation_p.E2529K|FRYL_ENST00000264319.7_5'UTR O94915 FRYL_HUMAN FRY-like 2529 regulation of transcription, DNA-dependent|transcription, DNA-dependent protein binding breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 91 GTGGAATCTTCAGACTGGAGA 0.423000 8 60 0 0 1 0 0 MCM4 4173 broad.mit.edu 37 8 48888359 48888359 + Missense_Mutation SNP C C T TCGA-CV-A45R-01A-11D-A24D-08 TCGA-CV-A45R-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ca16f0b-5471-40a1-976d-409a8bea7c0c 1d6f4a43-d1b5-4c30-aec7-ad78a5d6c5b8 g.chr8:48888359C>T ENST00000262105.2 + 15 2659 c.2450C>T c.(2449-2451)gCt>gTt p.A817V MCM4_ENST00000523944.1_Missense_Mutation_p.A817V NM_005914.3 NP_005905.2 P33991 MCM4_HUMAN minichromosome maintenance complex component 4 817 cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle MCM complex ATP binding|DNA binding|helicase activity|protein binding biliary_tract(1)|breast(1)|endometrium(7)|kidney(4)|large_intestine(5)|lung(16)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2) 44 all_cancers(86;0.026)|all_epithelial(80;0.000748)|Lung NSC(129;0.00327)|all_lung(136;0.00354) AAAACACCAGCTCTAAAATAC 0.338000 12 26 0 0 1 0 0 TNRC18 84629 broad.mit.edu 37 7 5417607 5417607 + Missense_Mutation SNP C C T TCGA-CV-A45R-01A-11D-A24D-08 TCGA-CV-A45R-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ca16f0b-5471-40a1-976d-409a8bea7c0c 1d6f4a43-d1b5-4c30-aec7-ad78a5d6c5b8 g.chr7:5417607C>T ENST00000399537.4 - 6 2549 c.2201G>A c.(2200-2202)cGg>cAg p.R734Q TNRC18_ENST00000430969.1_Missense_Mutation_p.R734Q O15417 TNC18_HUMAN trinucleotide repeat containing 18 734 DNA binding central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8) 11 Ovarian(82;0.142) UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15) CCGTTCCTCCCGGTGTCTGGC 0.682000 21 50 0 0 1 0 0 APBA2 321 broad.mit.edu 37 15 29398898 29398898 + Missense_Mutation SNP C C A TCGA-CV-A45R-01A-11D-A24D-08 TCGA-CV-A45R-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ca16f0b-5471-40a1-976d-409a8bea7c0c 1d6f4a43-d1b5-4c30-aec7-ad78a5d6c5b8 g.chr15:29398898C>A ENST00000558402.1 + 13 2392 c.1793C>A c.(1792-1794)gCc>gAc p.A598D APBA2_ENST00000558259.1_Missense_Mutation_p.A598D|APBA2_ENST00000558330.1_Missense_Mutation_p.A586D|APBA2_ENST00000411764.1_Missense_Mutation_p.A586D|APBA2_ENST00000561069.1_Missense_Mutation_p.A598D Q99767 APBA2_HUMAN amyloid beta (A4) precursor protein-binding, family A, member 2 598 PDZ 1. 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) GTGATCCTGGCCAACATGATG 0.652000 16 77 6.31663e-08 6.59126e-08 1 1 0 LRRC49 54839 broad.mit.edu 37 15 71276586 71276586 + Missense_Mutation SNP G G C TCGA-CV-A45R-01A-11D-A24D-08 TCGA-CV-A45R-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ca16f0b-5471-40a1-976d-409a8bea7c0c 1d6f4a43-d1b5-4c30-aec7-ad78a5d6c5b8 g.chr15:71276586G>C ENST00000260382.5 + 11 1419 c.1159G>C c.(1159-1161)Gag>Cag p.E387Q LRRC49_ENST00000560158.2_Missense_Mutation_p.E75Q|LRRC49_ENST00000560691.1_Missense_Mutation_p.E93Q|LRRC49_ENST00000544974.2_Missense_Mutation_p.E377Q|LRRC49_ENST00000436542.2_3'UTR|LRRC49_ENST00000443425.2_Missense_Mutation_p.E343Q|LRRC49_ENST00000560369.1_Missense_Mutation_p.E392Q NM_001199017.1|NM_017691.3 NP_001185946.1|NP_060161.2 Q8IUZ0 LRC49_HUMAN leucine rich repeat containing 49 387 cytoplasm|microtubule breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|lung(14)|ovary(2)|prostate(3)|skin(3) 34 TGCATTCCCAGAGGAAACAGG 0.368000 4 33 0 0 1 0 0 PLXNB2 23654 broad.mit.edu 37 22 50728802 50728802 + Missense_Mutation SNP G G A TCGA-CV-A45R-01A-11D-A24D-08 TCGA-CV-A45R-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ca16f0b-5471-40a1-976d-409a8bea7c0c 1d6f4a43-d1b5-4c30-aec7-ad78a5d6c5b8 g.chr22:50728802G>A ENST00000449103.1 - 3 352 c.212C>T c.(211-213)cCg>cTg p.P71L PLXNB2_ENST00000359337.4_Missense_Mutation_p.P71L O15031 PLXB2_HUMAN plexin B2 71 Sema. regulation of small GTPase mediated signal transduction integral to membrane|intracellular GTPase activator activity|protein binding|receptor activity breast(2)|central_nervous_system(4)|cervix(2)|endometrium(11)|kidney(4)|large_intestine(3)|liver(1)|lung(20)|ovary(5)|prostate(6)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2) 66 all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113) BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247) GTCCAGGGCCGGGCCCGTGGC 0.642000 10 48 0 0 1 0 0 ALDH3A1 218 broad.mit.edu 37 17 19645912 19645912 + Silent SNP C C T TCGA-CV-A45R-01A-11D-A24D-08 TCGA-CV-A45R-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ca16f0b-5471-40a1-976d-409a8bea7c0c 1d6f4a43-d1b5-4c30-aec7-ad78a5d6c5b8 g.chr17:19645912C>T ENST00000457500.2 - 3 755 c.426G>A c.(424-426)ctG>ctA p.L142L ALDH3A1_ENST00000225740.6_Silent_p.L142L|ALDH3A1_ENST00000395555.3_Silent_p.L142L|ALDH3A1_ENST00000444455.1_Silent_p.L142L|ALDH3A1_ENST00000494157.2_Silent_p.L69L NM_001135168.1 NP_001128640.1 P30838 AL3A1_HUMAN aldehyde dehydrogenase 3 family, member A1 142 cellular aldehyde metabolic process cytosol|endoplasmic reticulum alcohol dehydrogenase (NADP+) activity|aldehyde dehydrogenase|aldehyde dehydrogenase (NAD) activity breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|urinary_tract(1) 13 all_cancers(12;4.01e-05)|all_epithelial(12;0.00301)|Breast(13;0.186) Colorectal(15;0.0829) NADH(DB00157) TGTTCTCACTCAGCTCCGAGG 0.602000 14 71 0 0 1 0 0 ATRNL1 26033 broad.mit.edu 37 10 117061462 117061462 + Silent SNP C C T TCGA-CV-A45R-01A-11D-A24D-08 TCGA-CV-A45R-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ca16f0b-5471-40a1-976d-409a8bea7c0c 1d6f4a43-d1b5-4c30-aec7-ad78a5d6c5b8 g.chr10:117061462C>T ENST00000355044.3 + 17 2853 c.2727C>T c.(2725-2727)tgC>tgT p.C909C ATRNL1_ENST00000423111.2_Silent_p.C6C NM_207303.2 NP_997186.1 Q5VV63 ATRN1_HUMAN attractin-like 1 909 PSI 4. integral to membrane sugar binding NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(11)|liver(2)|lung(44)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 95 all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234) Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827) GTATGTGGTGCAGCAGTACGA 0.453000 14 53 0 0 1 0 0 ZNF831 128611 broad.mit.edu 37 20 57768620 57768620 + Missense_Mutation SNP A A G TCGA-CV-A45R-01A-11D-A24D-08 TCGA-CV-A45R-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ca16f0b-5471-40a1-976d-409a8bea7c0c 1d6f4a43-d1b5-4c30-aec7-ad78a5d6c5b8 g.chr20:57768620A>G ENST00000371030.2 + 1 2546 c.2546A>G c.(2545-2547)cAg>cGg p.Q849R NM_178457.1 NP_848552.1 Q5JPB2 ZN831_HUMAN zinc finger protein 831 849 intracellular nucleic acid binding|zinc ion binding NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3) 125 all_lung(29;0.0085) GGGCCCACGCAGCCTGCCTCT 0.637000 28 61 0 0 1 0 0 DPP9 91039 broad.mit.edu 37 19 4694749 4694749 + Silent SNP G G A TCGA-CV-A45R-01A-11D-A24D-08 TCGA-CV-A45R-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ca16f0b-5471-40a1-976d-409a8bea7c0c 1d6f4a43-d1b5-4c30-aec7-ad78a5d6c5b8 g.chr19:4694749G>A ENST00000262960.9 - 13 1717 c.1440C>T c.(1438-1440)ttC>ttT p.F480F DPP9_ENST00000594671.1_Silent_p.F451F|DPP9_ENST00000598800.1_Silent_p.F451F|DPP9_ENST00000597849.1_Silent_p.F480F NM_139159.4 NP_631898.3 Q86TI2 DPP9_HUMAN dipeptidyl-peptidase 9 451 proteolysis cytosol|membrane aminopeptidase activity|serine-type peptidase activity cervix(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 20 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00884) ACAAATGGCAGAAGCCGGTCT 0.547000 6 21 0 0 1 0 0 DNAH5 1767 broad.mit.edu 37 5 13717547 13717547 + Silent SNP A A G TCGA-CV-A45R-01A-11D-A24D-08 TCGA-CV-A45R-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ca16f0b-5471-40a1-976d-409a8bea7c0c 1d6f4a43-d1b5-4c30-aec7-ad78a5d6c5b8 g.chr5:13717547A>G ENST00000265104.4 - 73 12686 c.12582T>C c.(12580-12582)acT>acC p.T4194T NM_001369.2 NP_001360.1 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 4194 AAA 6 (By similarity). microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8) 378 Lung NSC(4;0.00476) TCTCCTGGACAGTGGAGTGCA 0.557000 Kartagener syndrome 6 42 0 0 1 0 0 ZDHHC14 79683 broad.mit.edu 37 6 158066812 158066812 + Missense_Mutation SNP G G A TCGA-CV-A45R-01A-11D-A24D-08 TCGA-CV-A45R-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ca16f0b-5471-40a1-976d-409a8bea7c0c 1d6f4a43-d1b5-4c30-aec7-ad78a5d6c5b8 g.chr6:158066812G>A ENST00000359775.5 + 6 1685 c.796G>A c.(796-798)Gtt>Att p.V266I ZDHHC14_ENST00000414563.2_Missense_Mutation_p.V266I|ZDHHC14_ENST00000341375.8_3'UTR Q8IZN3 ZDH14_HUMAN zinc finger, DHHC-type containing 14 266 integral to membrane acyltransferase activity|zinc ion binding central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(8)|ovary(1)|skin(1) 17 Breast(66;0.00586)|Ovarian(120;0.123) OV - Ovarian serous cystadenocarcinoma(65;2.9e-17)|BRCA - Breast invasive adenocarcinoma(81;5.8e-05) CTGGTCCATCGTTGGCCTCTC 0.557000 5 35 0 0 1 0 0 KCNJ4 3761 broad.mit.edu 37 22 38822960 38822960 + Missense_Mutation SNP G G A TCGA-CV-A45R-01A-11D-A24D-08 TCGA-CV-A45R-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ca16f0b-5471-40a1-976d-409a8bea7c0c 1d6f4a43-d1b5-4c30-aec7-ad78a5d6c5b8 g.chr22:38822960G>A ENST00000303592.3 - 2 1436 c.1178C>T c.(1177-1179)gCg>gTg p.A393V RP3-434P1.6_ENST00000433230.1_RNA NM_004981.1|NM_152868.2 NP_004972.1|NP_690607.1 P48050 IRK4_HUMAN potassium inwardly-rectifying channel, subfamily J, member 4 393 Poly-Ala. synaptic transmission basolateral plasma membrane|voltage-gated potassium channel complex inward rectifier potassium channel activity|PDZ domain binding endometrium(7)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 23 Melanoma(58;0.0286) CGCGGCCGCCGCAGCTGCCTC 0.697000 47 83 0 0 1 0 0 STX1A 6804 broad.mit.edu 37 7 73123401 73123401 + Missense_Mutation SNP G G A TCGA-CV-A45R-01A-11D-A24D-08 TCGA-CV-A45R-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ca16f0b-5471-40a1-976d-409a8bea7c0c 1d6f4a43-d1b5-4c30-aec7-ad78a5d6c5b8 g.chr7:73123401G>A ENST00000222812.3 - 2 108 c.82C>T c.(82-84)Cgc>Tgc p.R28C STX1A_ENST00000395154.3_Missense_Mutation_p.R28C|STX1A_ENST00000395155.3_Missense_Mutation_p.R28C|STX1A_ENST00000395156.3_Missense_Mutation_p.R28C NM_004603.3 NP_004594.1 Q16623 STX1A_HUMAN syntaxin 1A (brain) 28 energy reserve metabolic process|glutamate secretion|intracellular protein transport|regulation of insulin secretion cell junction|extracellular region|integral to membrane|neuron projection|synaptic vesicle membrane|synaptosome SNAP receptor activity large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1) 5 Lung NSC(55;0.0908)|all_lung(88;0.198) TCCATGAAGCGGTCTCGGTCC 0.592000 51 100 0 0 1 0 0 FRAS1 80144 broad.mit.edu 37 4 79328996 79328996 + Splice_Site SNP G G C TCGA-CV-A45R-01A-11D-A24D-08 TCGA-CV-A45R-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ca16f0b-5471-40a1-976d-409a8bea7c0c 1d6f4a43-d1b5-4c30-aec7-ad78a5d6c5b8 g.chr4:79328996G>C ENST00000264895.6 + 31 4748 c.e31+1 FRAS1_ENST00000325942.6_Splice_Site NM_025074.6 NP_079350.5 Q86XX4 FRAS1_HUMAN Fraser syndrome 1 cell communication integral to membrane|plasma membrane metal ion binding breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4) 103 CCGCTTCGAGGTACCCTCTGC 0.483000 5 18 0 0 1 0 0 ZNF697 90874 broad.mit.edu 37 1 120168620 120168620 + Missense_Mutation SNP T T G TCGA-CV-A45R-01A-11D-A24D-08 TCGA-CV-A45R-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ca16f0b-5471-40a1-976d-409a8bea7c0c 1d6f4a43-d1b5-4c30-aec7-ad78a5d6c5b8 g.chr1:120168620T>G ENST00000421812.2 - 2 223 c.104A>C c.(103-105)gAa>gCa p.E35A NM_001080470.1 NP_001073939.1 Q5TEC3 ZN697_HUMAN zinc finger protein 697 35 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(2) 2 all_neural(166;0.219) all_lung(203;3.66e-05)|Lung NSC(69;0.000202)|all_epithelial(167;0.0266) Lung(183;0.011)|LUSC - Lung squamous cell carcinoma(189;0.0577) TTCTCTTTCTTCTGGGTCCCC 0.512000 39 84 0 0 1 0 0 KIAA0232 9778 broad.mit.edu 37 4 6864427 6864427 + Missense_Mutation SNP C C G TCGA-CV-A45R-01A-11D-A24D-08 TCGA-CV-A45R-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ca16f0b-5471-40a1-976d-409a8bea7c0c 1d6f4a43-d1b5-4c30-aec7-ad78a5d6c5b8 g.chr4:6864427C>G ENST00000307659.5 + 7 2773 c.2318C>G c.(2317-2319)aCt>aGt p.T773S KIAA0232_ENST00000425103.1_Missense_Mutation_p.T773S NM_014743.2 NP_055558.2 Q92628 K0232_HUMAN KIAA0232 773 ATP binding breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(12)|ovary(2)|prostate(4)|skin(1)|urinary_tract(1) 41 AACAGTAGAACTTTAGGTGAG 0.308000 9 23 0 0 1 0 0 GBAS 2631 broad.mit.edu 37 7 56045863 56045863 + Missense_Mutation SNP T T C TCGA-CV-A45R-01A-11D-A24D-08 TCGA-CV-A45R-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ca16f0b-5471-40a1-976d-409a8bea7c0c 1d6f4a43-d1b5-4c30-aec7-ad78a5d6c5b8 g.chr7:56045863T>C ENST00000322090.3 + 2 166 c.137T>C c.(136-138)cTa>cCa p.L46P GBAS_ENST00000446778.1_Missense_Mutation_p.L46P|GBAS_ENST00000487370.1_3'UTR NM_001483.2 NP_001474.1 O75323 NIPS2_HUMAN glioblastoma amplified sequence 46 integral to plasma membrane|membrane fraction|mitochondrion protein binding breast(1)|central_nervous_system(1)|large_intestine(1)|lung(2) 5 Breast(14;0.214) Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099) GACAGCTGGCTAAAATCCTTA 0.403000 18 70 0 0 1 0 0 FAM3B 54097 broad.mit.edu 37 21 42720565 42720565 + Nonsense_Mutation SNP G G T TCGA-CV-A45R-01A-11D-A24D-08 TCGA-CV-A45R-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ca16f0b-5471-40a1-976d-409a8bea7c0c 1d6f4a43-d1b5-4c30-aec7-ad78a5d6c5b8 g.chr21:42720565G>T ENST00000398652.3 + 8 715 c.649G>T c.(649-651)Gaa>Taa p.E217* FAM3B_ENST00000398647.3_Nonsense_Mutation_p.E130*|FAM3B_ENST00000357985.2_Nonsense_Mutation_p.E178*|FAM3B_ENST00000398646.3_Nonsense_Mutation_p.E201*|FAM3B_ENST00000479810.2_3'UTR P58499 FAM3B_HUMAN family with sequence similarity 3, member B 178 apoptosis|insulin secretion extracellular space cytokine activity central_nervous_system(2)|endometrium(1)|lung(2) 5 Prostate(19;1.57e-07)|all_epithelial(19;0.0404) TGGAAGTAAAGAAATCAGGAA 0.438000 9 32 3.09899e-07 3.17845e-07 1 1 0 LDHAL6A 160287 broad.mit.edu 37 11 18497038 18497038 + Missense_Mutation SNP G G C TCGA-CV-A45R-01A-11D-A24D-08 TCGA-CV-A45R-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ca16f0b-5471-40a1-976d-409a8bea7c0c 1d6f4a43-d1b5-4c30-aec7-ad78a5d6c5b8 g.chr11:18497038G>C ENST00000280706.2 + 4 1241 c.444G>C c.(442-444)tgG>tgC p.W148C LDHAL6A_ENST00000396213.3_Missense_Mutation_p.W148C|TSG101_ENST00000536719.1_Intron NM_144972.4 NP_659409.2 Q6ZMR3 LDH6A_HUMAN lactate dehydrogenase A-like 6A 148 glycolysis cytoplasm binding|L-lactate dehydrogenase activity large_intestine(3)|lung(9)|urinary_tract(1) 13 NADH(DB00157) ATGTAGCCTGGAAGTTGAGTG 0.363000 15 79 0 0 1 0 0 FBXW7 55294 broad.mit.edu 37 4 153247168 153247168 + Missense_Mutation SNP T T C TCGA-CV-A45R-01A-11D-A24D-08 TCGA-CV-A45R-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ca16f0b-5471-40a1-976d-409a8bea7c0c 1d6f4a43-d1b5-4c30-aec7-ad78a5d6c5b8 g.chr4:153247168T>C ENST00000281708.4 - 10 2863 c.1634A>G c.(1633-1635)tAt>tGt p.Y545C FBXW7_ENST00000263981.5_Missense_Mutation_p.Y465C|FBXW7_ENST00000603548.1_Missense_Mutation_p.Y545C|FBXW7_ENST00000603841.1_Missense_Mutation_p.Y545C|FBXW7_ENST00000296555.5_Missense_Mutation_p.Y427C|FBXW7_ENST00000393956.3_Missense_Mutation_p.Y369C NM_033632.3 NP_361014.1 Q969H0 FBXW7_HUMAN F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase 545 interspecies interaction between organisms|lipid homeostasis|negative regulation of DNA endoreduplication|negative regulation of hepatocyte proliferation|negative regulation of Notch signaling pathway|negative regulation of triglyceride biosynthetic process|positive regulation of epidermal growth factor receptor activity|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|protein ubiquitination|regulation of lipid storage|regulation of protein localization|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|sister chromatid cohesion|vasculature development nucleolus|nucleoplasm|SCF ubiquitin ligase complex protein binding p.Y545C(3)|p.Y306C(1)|p.Y427C(1)|p.Y465C(1)|p.?(1) NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6) 462 all_hematologic(180;0.093) Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067) CTGTAATGAATAGACTCTATT 0.403000 """Mis, N, D, F""" """colorectal, endometrial, T-ALL""" 39 53 0 0 1 0 0 VLDLR 7436 broad.mit.edu 37 9 2648222 2648222 + Missense_Mutation SNP C C T TCGA-CV-A45R-01A-11D-A24D-08 TCGA-CV-A45R-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ca16f0b-5471-40a1-976d-409a8bea7c0c 1d6f4a43-d1b5-4c30-aec7-ad78a5d6c5b8 g.chr9:2648222C>T ENST00000382100.2 + 13 2193 c.1837C>T c.(1837-1839)Cgc>Tgc p.R613C VLDLR_ENST00000382099.2_Missense_Mutation_p.R613C NM_003383.3 NP_003374.3 P98155 VLDLR_HUMAN very low density lipoprotein receptor 613 R -> H (in dbSNP:rs35948251). cholesterol metabolic process|endocytosis|lipid transport|memory|very-low-density lipoprotein particle clearance coated pit|integral to membrane|membrane fraction|plasma membrane|very-low-density lipoprotein particle apolipoprotein binding|calcium ion binding|low-density lipoprotein receptor activity|very-low-density lipoprotein particle receptor activity breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1) 24 GBM - Glioblastoma multiforme(50;0.0668)|Lung(218;0.123) TATAAAAAGTCGCCTCTATTG 0.378000 6 47 0 0 1 0 0 HTR1E 3354 broad.mit.edu 37 6 87725443 87725443 + Missense_Mutation SNP G G A TCGA-CV-A45R-01A-11D-A24D-08 TCGA-CV-A45R-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ca16f0b-5471-40a1-976d-409a8bea7c0c 1d6f4a43-d1b5-4c30-aec7-ad78a5d6c5b8 g.chr6:87725443G>A ENST00000305344.4 + 2 1094 c.391G>A c.(391-393)Gcc>Acc p.A131T HTR1E_ENST00000369584.1_Missense_Mutation_p.A131T NM_000865.2 NP_000856.1 P28566 5HT1E_HUMAN 5-hydroxytryptamine (serotonin) receptor 1E, G protein-coupled 131 G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission integral to plasma membrane protein binding|serotonin binding|serotonin receptor activity breast(3)|endometrium(2)|kidney(3)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(3) 41 all_cancers(76;7.11e-06)|Acute lymphoblastic leukemia(125;1.2e-09)|Prostate(29;3.51e-09)|all_hematologic(105;7.43e-06)|all_epithelial(107;0.00819) BRCA - Breast invasive adenocarcinoma(108;0.055) Eletriptan(DB00216) TATTGAATACGCCAGGAAGAG 0.572000 9 77 0 0 1 0 0 AP1G1 164 broad.mit.edu 37 16 71823313 71823313 + Nonsense_Mutation SNP G G A TCGA-CV-A45R-01A-11D-A24D-08 TCGA-CV-A45R-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ca16f0b-5471-40a1-976d-409a8bea7c0c 1d6f4a43-d1b5-4c30-aec7-ad78a5d6c5b8 g.chr16:71823313G>A ENST00000299980.4 - 2 511 c.70C>T c.(70-72)Cga>Tga p.R24* AP1G1_ENST00000423132.2_Nonsense_Mutation_p.R24*|AP1G1_ENST00000433195.2_Nonsense_Mutation_p.R47*|AP1G1_ENST00000393512.3_Nonsense_Mutation_p.R24*|AP1G1_ENST00000570297.1_5'UTR|AP1G1_ENST00000569748.1_Nonsense_Mutation_p.R24* NM_001128.5 NP_001119.3 O43747 AP1G1_HUMAN adaptor-related protein complex 1, gamma 1 subunit 24 endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport|regulation of defense response to virus by virus|viral reproduction clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|Golgi membrane|lysosomal membrane|recycling endosome kinesin binding|protein transporter activity breast(1)|endometrium(8)|large_intestine(6)|lung(7)|ovary(4)|pancreas(1)|urinary_tract(1) 28 Ovarian(137;0.125) ATCATTTCTCGTTCTTCAGCT 0.463000 12 68 0 0 1 0 0 LRRC42 115353 broad.mit.edu 37 1 54428009 54428009 + Missense_Mutation SNP G G A TCGA-CV-A45R-01A-11D-A24D-08 TCGA-CV-A45R-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ca16f0b-5471-40a1-976d-409a8bea7c0c 1d6f4a43-d1b5-4c30-aec7-ad78a5d6c5b8 g.chr1:54428009G>A ENST00000371370.3 + 7 1375 c.854G>A c.(853-855)gGc>gAc p.G285D LRRC42_ENST00000477905.1_3'UTR|LRRC42_ENST00000319223.4_Missense_Mutation_p.G285D NM_001256409.1 NP_001243338.1 Q9Y546 LRC42_HUMAN leucine rich repeat containing 42 285 breast(2)|kidney(1)|large_intestine(1)|lung(5) 9 ACCCACATAGGCCTTGTTCAC 0.443000 9 25 0 0 1 0 0 ANO1 55107 broad.mit.edu 37 11 69933970 69933970 + Missense_Mutation SNP C C T TCGA-CV-A45R-01A-11D-A24D-08 TCGA-CV-A45R-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ca16f0b-5471-40a1-976d-409a8bea7c0c 1d6f4a43-d1b5-4c30-aec7-ad78a5d6c5b8 g.chr11:69933970C>T ENST00000355303.5 + 2 526 c.221C>T c.(220-222)tCg>tTg p.S74L ANO1_ENST00000538023.1_Missense_Mutation_p.S74L|ANO1_ENST00000530676.1_5'UTR|ANO1_ENST00000316296.5_Missense_Mutation_p.S46L|ANO1_ENST00000398543.2_5'UTR NM_018043.5 NP_060513.5 Q5XXA6 ANO1_HUMAN anoctamin 1, calcium activated chloride channel 74 multicellular organismal development chloride channel complex|cytoplasm|plasma membrane intracellular calcium activated chloride channel activity central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(12)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1) 29 AAGAGGCCCTCGGGCAACCGG 0.652000 4 27 0 0 1 0 0 ACSS3 79611 broad.mit.edu 37 12 81545808 81545808 + Missense_Mutation SNP G G T TCGA-CV-A45R-01A-11D-A24D-08 TCGA-CV-A45R-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ca16f0b-5471-40a1-976d-409a8bea7c0c 1d6f4a43-d1b5-4c30-aec7-ad78a5d6c5b8 g.chr12:81545808G>T ENST00000548058.1 + 7 1941 c.1031G>T c.(1030-1032)tGg>tTg p.W344L ACSS3_ENST00000548324.1_Missense_Mutation_p.W26L|ACSS3_ENST00000261206.3_Missense_Mutation_p.W343L Q9H6R3 ACSS3_HUMAN acyl-CoA synthetase short-chain family member 3 344 mitochondrion acetate-CoA ligase activity|ATP binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(7)|liver(3)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2) 51 GACTTAGGCTGGGTTGTTGGA 0.323000 28 48 3.65163e-15 3.91246e-15 1 1 0 SLITRK1 114798 broad.mit.edu 37 13 84453963 84453963 + Silent SNP C C T TCGA-CV-A45R-01A-11D-A24D-08 TCGA-CV-A45R-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ca16f0b-5471-40a1-976d-409a8bea7c0c 1d6f4a43-d1b5-4c30-aec7-ad78a5d6c5b8 g.chr13:84453963C>T ENST00000377084.2 - 1 2565 c.1680G>A c.(1678-1680)acG>acA p.T560T NM_052910.1 NP_443142.1 Q96PX8 SLIK1_HUMAN SLIT and NTRK-like family, member 1 560 LRRCT 2. integral to membrane NS(2)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(36)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 80 Medulloblastoma(90;0.18) Breast(118;0.212) GBM - Glioblastoma multiforme(99;0.07) AGTTCACCGGCGTCTCACACT 0.532000 19 18 0 0 1 0 0 OR10G2 26534 broad.mit.edu 37 14 22102277 22102277 + Missense_Mutation SNP C C T rs143483449 TCGA-CV-A45R-01A-11D-A24D-08 TCGA-CV-A45R-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ca16f0b-5471-40a1-976d-409a8bea7c0c 1d6f4a43-d1b5-4c30-aec7-ad78a5d6c5b8 g.chr14:22102277C>T ENST00000542433.1 - 1 819 c.722G>A c.(721-723)cGg>cAg p.R241Q NM_001005466.1 NP_001005466.1 Q8NGC3 O10G2_HUMAN olfactory receptor, family 10, subfamily G, member 2 241 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|prostate(1)|skin(2)|stomach(2) 22 all_cancers(95;0.00113) Acute lymphoblastic leukemia(2;0.0279) GBM - Glioblastoma multiforme(265;0.0142) GGAGAAGGCCCGGCGCCTCCC 0.547000 20 34 0 0 1 0 0 OR10G7 390265 broad.mit.edu 37 11 123908787 123908787 + Missense_Mutation SNP C C A TCGA-CV-A45R-01A-11D-A24D-08 TCGA-CV-A45R-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ca16f0b-5471-40a1-976d-409a8bea7c0c 1d6f4a43-d1b5-4c30-aec7-ad78a5d6c5b8 g.chr11:123908787C>A ENST00000330487.5 - 1 930 c.922G>T c.(922-924)Gct>Tct p.A308S NM_001004463.1 NP_001004463.1 Q8NGN6 O10G7_HUMAN olfactory receptor, family 10, subfamily G, member 7 308 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(6)|lung(20)|ovary(2)|prostate(2)|stomach(3)|urinary_tract(1) 47 Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521) TCACCCTGAGCAAATACTGAC 0.368000 10 17 2.17888e-05 2.21581e-05 1 1 0 RPL5 6125 broad.mit.edu 37 1 93306171 93306171 + Missense_Mutation SNP C C A TCGA-CV-A45R-01A-11D-A24D-08 TCGA-CV-A45R-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ca16f0b-5471-40a1-976d-409a8bea7c0c 1d6f4a43-d1b5-4c30-aec7-ad78a5d6c5b8 g.chr1:93306171C>A ENST00000370321.3 + 7 859 c.769C>A c.(769-771)Ccc>Acc p.P257T NM_000969.3 NP_000960.2 P46777 RL5_HUMAN ribosomal protein L5 257 endocrine pancreas development|ribosomal large subunit biogenesis|rRNA processing|translational elongation|translational termination|viral transcription cytosolic large ribosomal subunit|nucleolus 5S rRNA binding|protein binding|structural constituent of ribosome endometrium(1)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1) 9 all_lung(203;0.00265)|Lung NSC(277;0.0056)|all_neural(321;0.185)|Melanoma(281;0.192)|Glioma(108;0.203) GBM - Glioblastoma multiforme(16;0.000305)|all cancers(265;0.000343)|Epithelial(280;0.0927) TGAAAAGAAGCCCAAGAAAGA 0.398000 4 115 0.184627 0.184627 1 1 0 PSMD1 5707 broad.mit.edu 37 2 231943412 231943412 + Missense_Mutation SNP A A G TCGA-CV-A45R-01A-11D-A24D-08 TCGA-CV-A45R-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ca16f0b-5471-40a1-976d-409a8bea7c0c 1d6f4a43-d1b5-4c30-aec7-ad78a5d6c5b8 g.chr2:231943412A>G ENST00000308696.6 + 10 1273 c.1111A>G c.(1111-1113)Ata>Gta p.I371V PSMD1_ENST00000373635.4_Missense_Mutation_p.I371V|PSMD1_ENST00000409643.1_Missense_Mutation_p.I371V NM_002807.3 NP_002798.2 Q99460 PSMD1_HUMAN proteasome (prosome, macropain) 26S subunit, non-ATPase, 1 371 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|regulation of protein catabolic process|S phase of mitotic cell cycle|viral reproduction proteasome regulatory particle enzyme regulator activity|protein binding breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4) 31 Ovarian(221;0.000626)|Medulloblastoma(418;0.0109)|Renal(207;0.0112)|Lung NSC(271;0.0538)|all_lung(227;0.0713)|all_hematologic(139;0.0748)|Acute lymphoblastic leukemia(138;0.167) Epithelial(121;4e-26)|LUSC - Lung squamous cell carcinoma(224;0.0138)|Lung(119;0.0168) Bortezomib(DB00188) TGCAACCGTTATAGCAAACTC 0.363000 15 17 0 0 1 0 0 LEMD2 221496 broad.mit.edu 37 6 33740486 33740486 + Silent SNP C C T TCGA-CV-A45R-01A-11D-A24D-08 TCGA-CV-A45R-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ca16f0b-5471-40a1-976d-409a8bea7c0c 1d6f4a43-d1b5-4c30-aec7-ad78a5d6c5b8 g.chr6:33740486C>T ENST00000293760.5 - 9 1450 c.1431G>A c.(1429-1431)acG>acA p.T477T LEMD2_ENST00000508327.1_Silent_p.T175T NM_181336.3 NP_851853.1 Q8NC56 LEMD2_HUMAN LEM domain containing 2 477 integral to nuclear inner membrane central_nervous_system(2)|endometrium(3)|large_intestine(1)|lung(2)|pancreas(1) 9 GGTGGGACTCCGTCTGGATCC 0.622000 6 36 0 0 1 0 0 TRIM58 25893 broad.mit.edu 37 1 248020626 248020626 + Silent SNP G G A TCGA-CV-A45R-01A-11D-A24D-08 TCGA-CV-A45R-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ca16f0b-5471-40a1-976d-409a8bea7c0c 1d6f4a43-d1b5-4c30-aec7-ad78a5d6c5b8 g.chr1:248020626G>A ENST00000366481.3 + 1 126 c.78G>A c.(76-78)ccG>ccA p.P26P NM_015431.3 NP_056246.3 Q8NG06 TRI58_HUMAN tripartite motif containing 58 26 intracellular zinc ion binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(39)|ovary(4)|pancreas(1)|skin(7)|stomach(1) 63 all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) all_cancers(173;0.0286) OV - Ovarian serous cystadenocarcinoma(106;0.0319) TGCAGGAGCCGGTCAGCGTGG 0.721000 4 21 0 0 1 0 0 DSCAM 1826 broad.mit.edu 37 21 41385129 41385129 + Silent SNP C C T TCGA-CV-A45R-01A-11D-A24D-08 TCGA-CV-A45R-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ca16f0b-5471-40a1-976d-409a8bea7c0c 1d6f4a43-d1b5-4c30-aec7-ad78a5d6c5b8 g.chr21:41385129C>T ENST00000400454.1 - 33 6348 c.5871G>A c.(5869-5871)acG>acA p.T1957T NM_001389.3 NP_001380.2 O60469 DSCAM_HUMAN Down syndrome cell adhesion molecule 1957 HRPGDLIHLPPYLRMDFLLNRGGPGTSRDLSLGQACLEPQK SRTLKRPTVLEPIPMEAASSASSTREGQSWQPGAVATLPQR EGAELGQAAKMSSSQESLLDSRGHLKGNNPYAKSYTLV -> IGQVTSYICLHTLEWTFC (in Ref. 1; AAC17966). cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction protein binding NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4) 142 all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103) GTCCTTCTCTCGTGGAGGAGG 0.627000 14 34 0 0 1 0 0 CBX2 84733 broad.mit.edu 37 17 77755584 77755584 + Missense_Mutation SNP G G A TCGA-CV-A45R-01A-11D-A24D-08 TCGA-CV-A45R-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ca16f0b-5471-40a1-976d-409a8bea7c0c 1d6f4a43-d1b5-4c30-aec7-ad78a5d6c5b8 g.chr17:77755584G>A ENST00000310942.4 + 4 376 c.272G>A c.(271-273)cGg>cAg p.R91Q CBX2_ENST00000269399.5_Missense_Mutation_p.R91Q NM_005189.2 NP_005180.1 Q14781 CBX2_HUMAN chromobox homolog 2 91 Ser-rich. cell differentiation|chromatin modification|development of primary sexual characteristics|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent PcG protein complex DNA binding breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|upper_aerodigestive_tract(1) 16 OV - Ovarian serous cystadenocarcinoma(97;0.0102)|BRCA - Breast invasive adenocarcinoma(99;0.0224) TCCTGCAGCCGGCGCTCCAAG 0.657000 14 82 0 0 1 0 0 EML5 161436 broad.mit.edu 37 14 89124669 89124669 + Missense_Mutation SNP T T A TCGA-CV-A45R-01A-11D-A24D-08 TCGA-CV-A45R-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ca16f0b-5471-40a1-976d-409a8bea7c0c 1d6f4a43-d1b5-4c30-aec7-ad78a5d6c5b8 g.chr14:89124669T>A ENST00000554922.1 - 26 3987 c.3739A>T c.(3739-3741)Act>Tct p.T1247S EML5_ENST00000380664.5_Missense_Mutation_p.T1247S|EML5_ENST00000352093.5_Missense_Mutation_p.T1209S NM_183387.2 NP_899243.1 Q05BV3 EMAL5_HUMAN echinoderm microtubule associated protein like 5 1247 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 TCATCATAAGTCCAGCGAACA 0.403000 20 79 0 0 1 0 0 PCDH10 57575 broad.mit.edu 37 4 134084326 134084326 + Missense_Mutation SNP C C T TCGA-CV-A45R-01A-11D-A24D-08 TCGA-CV-A45R-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ca16f0b-5471-40a1-976d-409a8bea7c0c 1d6f4a43-d1b5-4c30-aec7-ad78a5d6c5b8 g.chr4:134084326C>T ENST00000264360.4 + 4 3818 c.2992C>T c.(2992-2994)Cgg>Tgg p.R998W NM_032961.1 NP_116586.1 Q9P2E7 PCD10_HUMAN protocadherin 10 998 homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding p.R998W(1) NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2) 136 LUSC - Lung squamous cell carcinoma(193;0.227) TGGGGCAGAGCGGTCCTTTTC 0.547000 9 174 0 0 1 0 0 SFRP1 6422 broad.mit.edu 37 8 41122968 41122968 + Silent SNP G G A rs145952780 byFrequency TCGA-CV-A45R-01A-11D-A24D-08 TCGA-CV-A45R-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ca16f0b-5471-40a1-976d-409a8bea7c0c 1d6f4a43-d1b5-4c30-aec7-ad78a5d6c5b8 g.chr8:41122968G>A ENST00000220772.3 - 3 1000 c.663C>T c.(661-663)ggC>ggT p.G221G SFRP1_ENST00000379845.3_Silent_p.G85G NM_003012.4 NP_003003.3 Q8N474 SFRP1_HUMAN secreted frizzled-related protein 1 221 NTR. brain development|canonical Wnt receptor signaling pathway|cellular response to BMP stimulus|cellular response to estradiol stimulus|cellular response to fibroblast growth factor stimulus|cellular response to heparin|cellular response to hypoxia|cellular response to interleukin-1|cellular response to prostaglandin E stimulus|cellular response to starvation|cellular response to transforming growth factor beta stimulus|cellular response to tumor necrosis factor|cellular response to vitamin D|DNA fragmentation involved in apoptotic nuclear change|dorsal/ventral axis specification|hemopoietic progenitor cell differentiation|hemopoietic stem cell differentiation|menstrual cycle phase|negative regulation of androgen receptor signaling pathway|negative regulation of B cell differentiation|negative regulation of bone remodeling|negative regulation of canonical Wnt receptor signaling pathway involved in controlling type B pancreatic cell proliferation|negative regulation of cell growth|negative regulation of cell migration|negative regulation of cysteine-type endopeptidase activity|negative regulation of epithelial cell proliferation|negative regulation of epithelial to mesenchymal transition|negative regulation of fibroblast apoptosis|negative regulation of fibroblast proliferation|negative regulation of insulin secretion|negative regulation of ossification|negative regulation of osteoblast proliferation|negative regulation of peptidyl-tyrosine phosphorylation|negative regulation of transcription, DNA-dependent|negative regulation of Wnt receptor signaling pathway involved in dorsal/ventral axis specification|osteoblast differentiation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell growth|positive regulation of epithelial cell proliferation|positive regulation of fat cell differentiation|positive regulation of fibroblast apoptosis|positive regulation of focal adhesion assembly|positive regulation of non-canonical Wnt receptor signaling pathway|positive regulation of Rac GTPase activity|positive regulation of smoothened signaling pathway|positive regulation of stress fiber assembly|positive regulation of transcription, DNA-dependent|regulation of angiogenesis|regulation of cell cycle process|response to drug|response to organic cyclic compound|vasculature development cell surface|cytosol|extracellular space|plasma membrane|proteinaceous extracellular matrix cysteine-type endopeptidase activity|drug binding|frizzled binding|heparin binding|identical protein binding|PDZ domain binding|Wnt receptor activity|Wnt-protein binding breast(1)|central_nervous_system(1)|large_intestine(2)|liver(1)|lung(1)|skin(1) 7 Breast(1;9.19e-13)|Ovarian(28;0.00769)|Colorectal(14;0.0305)|Lung SC(25;0.211) all_lung(54;0.0034)|Lung NSC(58;0.0134)|Hepatocellular(245;0.023)|Esophageal squamous(32;0.0559) BRCA - Breast invasive adenocarcinoma(1;1.11e-10)|LUSC - Lung squamous cell carcinoma(45;0.00894)|COAD - Colon adenocarcinoma(11;0.0174) TCTTCTTGTCGCCATTTTCTT 0.443000 16 56 0 0 1 0 0 CLCNKA 1187 broad.mit.edu 37 1 16356265 16356265 + Missense_Mutation SNP G G T TCGA-CV-A45R-01A-11D-A24D-08 TCGA-CV-A45R-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ca16f0b-5471-40a1-976d-409a8bea7c0c 1d6f4a43-d1b5-4c30-aec7-ad78a5d6c5b8 g.chr1:16356265G>T ENST00000375692.1 + 14 1395 c.1267G>T c.(1267-1269)Gcc>Tcc p.A423S CLCNKA_ENST00000439316.2_Missense_Mutation_p.A380S|CLCNKA_ENST00000420078.1_Missense_Mutation_p.A423S|CLCNKA_ENST00000464764.1_3'UTR|CLCNKA_ENST00000331433.4_Missense_Mutation_p.A423S P51800 CLCKA_HUMAN chloride channel, voltage-sensitive Ka 423 excretion chloride channel complex|integral to plasma membrane voltage-gated chloride channel activity breast(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|skin(1) 19 Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649) Niflumic Acid(DB04552) CCCCATGCCTGCCGGGTACTT 0.592000 22 229 3.28513e-13 3.48863e-13 1 1 0 ARHGEF18 23370 broad.mit.edu 37 19 7527146 7527146 + Missense_Mutation SNP G G A rs146371166 TCGA-CV-A45R-01A-11D-A24D-08 TCGA-CV-A45R-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ca16f0b-5471-40a1-976d-409a8bea7c0c 1d6f4a43-d1b5-4c30-aec7-ad78a5d6c5b8 g.chr19:7527146G>A ENST00000359920.6 + 11 2250 c.1997G>A c.(1996-1998)cGa>cAa p.R666Q CTD-2207O23.3_ENST00000593531.1_Missense_Mutation_p.E624K|ARHGEF18_ENST00000319670.9_Missense_Mutation_p.R508Q NM_001130955.1 NP_001124427.1 Q6ZSZ5 ARHGI_HUMAN Rho/Rac guanine nucleotide exchange factor (GEF) 18 666 actin cytoskeleton organization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of cell shape|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol Rho guanyl-nucleotide exchange factor activity central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(4)|ovary(2)|prostate(2)|stomach(1)|urinary_tract(1) 23 Renal(5;0.0902) CCCCAGCCCCGAGGCCTATTC 0.602000 19 78 0 0 1 0 0 CHRNB3 1142 broad.mit.edu 37 8 42587393 42587393 + Missense_Mutation SNP G G A TCGA-CV-A45R-01A-11D-A24D-08 TCGA-CV-A45R-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ca16f0b-5471-40a1-976d-409a8bea7c0c 1d6f4a43-d1b5-4c30-aec7-ad78a5d6c5b8 g.chr8:42587393G>A ENST00000289957.2 + 5 1071 c.943G>A c.(943-945)Gtg>Atg p.V315M NM_000749.3 NP_000740.1 Q05901 ACHB3_HUMAN cholinergic receptor, nicotinic, beta 3 (neuronal) 315 synaptic transmission, cholinergic cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane nicotinic acetylcholine-activated cation-selective channel activity|receptor activity endometrium(4)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2) 25 all_lung(13;5.7e-12)|Lung NSC(13;1.6e-10)|Ovarian(28;0.00579)|Prostate(17;0.0119)|Lung SC(25;0.184) all_lung(54;0.00026)|Lung NSC(58;0.000992)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954) Lung(22;0.0199)|LUSC - Lung squamous cell carcinoma(45;0.0869) CATTGTTACCGTGTTTGTCAT 0.443000 25 217 0 0 1 0 0 NFKB1 4790 broad.mit.edu 37 4 103500169 103500169 + Missense_Mutation SNP G G A TCGA-CV-A45R-01A-11D-A24D-08 TCGA-CV-A45R-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ca16f0b-5471-40a1-976d-409a8bea7c0c 1d6f4a43-d1b5-4c30-aec7-ad78a5d6c5b8 g.chr4:103500169G>A ENST00000226574.4 + 8 1170 c.703G>A c.(703-705)Gtg>Atg p.V235M NFKB1_ENST00000600343.1_Missense_Mutation_p.V54M|NFKB1_ENST00000510638.1_3'UTR|NFKB1_ENST00000394820.4_Missense_Mutation_p.V234M|NFKB1_ENST00000505458.1_Missense_Mutation_p.V234M NM_001165412.1|NM_003998.3 NP_001158884.1|NP_003989.2 P19838 NFKB1_HUMAN nuclear factor of kappa light polypeptide gene enhancer in B-cells 1 234 RHD. anti-apoptosis|apoptosis|cellular response to mechanical stimulus|inflammatory response|innate immune response|membrane protein intracellular domain proteolysis|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of calcidiol 1-monooxygenase activity|nerve growth factor receptor signaling pathway|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription, DNA-dependent|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription from RNA polymerase II promoter cytosol|I-kappaB/NF-kappaB complex|mitochondrion|nucleoplasm protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding biliary_tract(1)|breast(4)|endometrium(2)|large_intestine(6)|lung(7)|ovary(2)|skin(4)|upper_aerodigestive_tract(1) 27 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;6.59e-08) Dexamethasone(DB01234)|Pranlukast(DB01411)|Thalidomide(DB01041) CCTGGAACCCGTGGTATCAGA 0.537000 18 64 0 0 1 0 0 GEMIN5 25929 broad.mit.edu 37 5 154271032 154271032 + Missense_Mutation SNP C C T TCGA-CV-A45R-01A-11D-A24D-08 TCGA-CV-A45R-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ca16f0b-5471-40a1-976d-409a8bea7c0c 1d6f4a43-d1b5-4c30-aec7-ad78a5d6c5b8 g.chr5:154271032C>T ENST00000285873.7 - 26 4106 c.4031G>A c.(4030-4032)aGa>aAa p.R1344K NM_001252156.1|NM_015465.4 NP_001239085.1|NP_056280.2 Q8TEQ6 GEMI5_HUMAN gem (nuclear organelle) associated protein 5 1344 ncRNA metabolic process|protein complex assembly|spliceosomal snRNP assembly Cajal body|cytosol|spliceosomal complex protein binding|snRNA binding breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 38 Renal(175;0.00488) Medulloblastoma(196;0.0354)|all_neural(177;0.147) KIRC - Kidney renal clear cell carcinoma(527;0.00112) TTCTGTGAGTCTCAAGTCTAG 0.478000 38 85 0 0 1 0 0 DNAJC5 80331 broad.mit.edu 37 20 62562306 62562306 + Missense_Mutation SNP G G A TCGA-CV-A45R-01A-11D-A24D-08 TCGA-CV-A45R-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ca16f0b-5471-40a1-976d-409a8bea7c0c 1d6f4a43-d1b5-4c30-aec7-ad78a5d6c5b8 g.chr20:62562306G>A ENST00000360864.4 + 4 577 c.424G>A c.(424-426)Gaa>Aaa p.E142K DNAJC5_ENST00000369911.2_Missense_Mutation_p.E142K NM_025219.2 NP_079495.1 Q9H3Z4 DNJC5_HUMAN DnaJ (Hsp40) homolog, subfamily C, member 5 142 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) CAAGGCGCCTGAAGGCGAGGA 0.632000 7 66 0 0 1 0 0 HIST2H2AC 8338 broad.mit.edu 37 1 149858608 149858608 + Silent SNP A A G TCGA-CV-A45R-01A-11D-A24D-08 TCGA-CV-A45R-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ca16f0b-5471-40a1-976d-409a8bea7c0c 1d6f4a43-d1b5-4c30-aec7-ad78a5d6c5b8 g.chr1:149858608A>G ENST00000331380.2 + 1 84 c.84A>G c.(82-84)gtA>gtG p.V28V NM_003517.2 NP_003508.1 Q16777 H2A2C_HUMAN histone cluster 2, H2ac 28 nucleosome assembly nucleosome|nucleus DNA binding NS(1)|breast(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(11)|ovary(1)|skin(1) 20 Breast(34;0.0124)|all_hematologic(923;0.127) STAD - Stomach adenocarcinoma(528;0.133)|LUSC - Lung squamous cell carcinoma(543;0.221) AGTTCCCGGTAGGGCGAGTGC 0.672000 5 183 0 0 1 0 0 AGTR1 185 broad.mit.edu 37 3 148459480 148459480 + Missense_Mutation SNP A A G TCGA-CV-A45R-01A-11D-A24D-08 TCGA-CV-A45R-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ca16f0b-5471-40a1-976d-409a8bea7c0c 1d6f4a43-d1b5-4c30-aec7-ad78a5d6c5b8 g.chr3:148459480A>G ENST00000542281.1 + 4 1104 c.658A>G c.(658-660)Aag>Gag p.K220E AGTR1_ENST00000497524.1_Missense_Mutation_p.K220E|AGTR1_ENST00000474935.1_Missense_Mutation_p.K220E|AGTR1_ENST00000349243.3_Missense_Mutation_p.K220E|AGTR1_ENST00000461609.1_Missense_Mutation_p.K220E|AGTR1_ENST00000402260.1_Missense_Mutation_p.K220E|AGTR1_ENST00000404754.2_Missense_Mutation_p.K220E|AGTR1_ENST00000418473.2_Missense_Mutation_p.K220E|AGTR1_ENST00000475347.1_Missense_Mutation_p.K220E NM_031850.3 NP_114038.4 P30556 AGTR1_HUMAN angiotensin II receptor, type 1 220 calcium-mediated signaling|cell chemotaxis|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|kidney development|low-density lipoprotein particle remodeling|positive regulation of cellular protein metabolic process|positive regulation of cholesterol esterification|positive regulation of inflammatory response|positive regulation of NAD(P)H oxidase activity|positive regulation of phospholipase A2 activity|positive regulation of reactive oxygen species metabolic process|regulation of cell growth|regulation of cell proliferation|regulation of renal sodium excretion|regulation of vasoconstriction|renin-angiotensin regulation of aldosterone production|Rho protein signal transduction acetyltransferase activator activity|angiotensin type I receptor activity|angiotensin type II receptor activity|bradykinin receptor binding|protein heterodimerization activity breast(4)|endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 30 LUSC - Lung squamous cell carcinoma(72;0.127)|Lung(72;0.152) Candesartan(DB00796)|Eprosartan(DB00876)|Forasartan(DB01342)|Irbesartan(DB01029)|Losartan(DB00678)|Olmesartan(DB00275)|Saprisartan(DB01347)|Spironolactone(DB00421)|Tasosartan(DB01349)|Telmisartan(DB00966)|Valsartan(DB00177) TCTTATTTGGAAGGCCCTAAA 0.358000 4 33 0 0 1 0 0 METTL1 4234 broad.mit.edu 37 12 58162916 58162916 + Missense_Mutation SNP C C T TCGA-CV-A45R-01A-11D-A24D-08 TCGA-CV-A45R-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ca16f0b-5471-40a1-976d-409a8bea7c0c 1d6f4a43-d1b5-4c30-aec7-ad78a5d6c5b8 g.chr12:58162916C>T ENST00000324871.7 - 6 1403 c.694G>A c.(694-696)Gga>Aga p.G232R METTL1_ENST00000257848.7_3'UTR NM_005371.5 NP_005362.3 Q9UBP6 TRMB_HUMAN methyltransferase like 1 232 cytoplasm|nucleus protein binding|tRNA (guanine-N7-)-methyltransferase activity|tRNA binding large_intestine(1)|lung(2)|upper_aerodigestive_tract(1) 4 all_cancers(7;6.73e-81)|Lung NSC(6;1.07e-25)|all_lung(6;8.25e-24)|all_epithelial(6;4.6e-17)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122) BRCA - Breast invasive adenocarcinoma(9;0.211) CCTAGATGTCCCACAACGGGG 0.532000 14 75 0 0 1 0 0 LOC100294341 100294341 broad.mit.edu 37 17 43587657 43587657 + RNA SNP C C T rs148404065 by1000genomes TCGA-CV-A45R-01A-11D-A24D-08 TCGA-CV-A45R-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ca16f0b-5471-40a1-976d-409a8bea7c0c 1d6f4a43-d1b5-4c30-aec7-ad78a5d6c5b8 g.chr17:43587657C>T ENST00000253803.2 + 0 267 LRRC37A4P_ENST00000579913.1_RNA GGTGACAACACATCTGTTTTA 0.323000 4 51 0 0 1 0 0 PAPPA 5069 broad.mit.edu 37 9 119028234 119028234 + Missense_Mutation SNP G G T TCGA-CV-A45R-01A-11D-A24D-08 TCGA-CV-A45R-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ca16f0b-5471-40a1-976d-409a8bea7c0c 1d6f4a43-d1b5-4c30-aec7-ad78a5d6c5b8 g.chr9:119028234G>T ENST00000328252.3 + 8 3200 c.2831G>T c.(2830-2832)aGt>aTt p.S944I PAPPA_ENST00000534838.1_5'UTR NM_002581.3 NP_002572.2 Q13219 PAPP1_HUMAN pregnancy-associated plasma protein A, pappalysin 1 944 S -> R. cell differentiation|female pregnancy cytoplasm|extracellular region|membrane metalloendopeptidase activity|zinc ion binding NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1) 98 ATCCATGGAAGTGGGTACTGT 0.433000 16 22 1.15088e-07 1.19056e-07 1 1 0 JUND 3727 broad.mit.edu 37 19 18391914 18391914 + Silent SNP C C T TCGA-CV-A45R-01A-11D-A24D-08 TCGA-CV-A45R-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ca16f0b-5471-40a1-976d-409a8bea7c0c 1d6f4a43-d1b5-4c30-aec7-ad78a5d6c5b8 g.chr19:18391914C>T ENST00000252818.3 - 1 518 c.381G>A c.(379-381)aaG>aaA p.K127K NM_005354.4 NP_005345.3 P17535 JUND_HUMAN jun D proto-oncogene 127 regulation of transcription from RNA polymerase II promoter chromatin|nucleus protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding lung(2)|prostate(1) 3 TGGCCGCCACCTTGGGGTAGA 0.677000 5 15 0 0 1 0 0 PRMT1 3276 broad.mit.edu 37 19 50185257 50185257 + Missense_Mutation SNP G G A TCGA-CV-A45R-01A-11D-A24D-08 TCGA-CV-A45R-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ca16f0b-5471-40a1-976d-409a8bea7c0c 1d6f4a43-d1b5-4c30-aec7-ad78a5d6c5b8 g.chr19:50185257G>A ENST00000532489.1 + 4 651 c.145G>A c.(145-147)Gtc>Atc p.V49I PRMT1_ENST00000454376.2_Missense_Mutation_p.V95I|PRMT1_ENST00000391851.4_Missense_Mutation_p.V77I Q8WUW5 Q8WUW5_HUMAN protein arginine methyltransferase 1 76 cytoplasm protein methyltransferase activity cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|ovary(2) 12 all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728) OV - Ovarian serous cystadenocarcinoma(262;0.00103)|GBM - Glioblastoma multiforme(134;0.012) GGTGCTGGACGTCGGCTCGGG 0.642000 7 59 0 0 1 0 0 XPO6 23214 broad.mit.edu 37 16 28145177 28145177 + Silent SNP G G A TCGA-CV-A45R-01A-11D-A24D-08 TCGA-CV-A45R-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ca16f0b-5471-40a1-976d-409a8bea7c0c 1d6f4a43-d1b5-4c30-aec7-ad78a5d6c5b8 g.chr16:28145177G>A ENST00000304658.5 - 11 2021 c.1521C>T c.(1519-1521)caC>caT p.H507H XPO6_ENST00000565698.1_Silent_p.H493H NM_015171.2 NP_055986.1 Q96QU8 XPO6_HUMAN exportin 6 507 protein export from nucleus protein binding|protein transporter activity breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 25 TGGAGAAGGCGTGCGTGGGCA 0.577000 7 27 0 0 1 0 0 WWP2 11060 broad.mit.edu 37 16 69963428 69963428 + Nonsense_Mutation SNP C C T TCGA-CV-A45R-01A-11D-A24D-08 TCGA-CV-A45R-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ca16f0b-5471-40a1-976d-409a8bea7c0c 1d6f4a43-d1b5-4c30-aec7-ad78a5d6c5b8 g.chr16:69963428C>T ENST00000359154.2 + 12 1413 c.1312C>T c.(1312-1314)Cag>Tag p.Q438* WWP2_ENST00000542271.1_Nonsense_Mutation_p.Q322*|WWP2_ENST00000356003.2_Nonsense_Mutation_p.Q438*|WWP2_ENST00000568684.1_5'UTR|WWP2_ENST00000544162.1_3'UTR|WWP2_ENST00000448661.1_Nonsense_Mutation_p.Q438* NM_001270454.1|NM_007014.4 NP_001257383.1|NP_008945.2 O00308 WWP2_HUMAN WW domain containing E3 ubiquitin protein ligase 2 438 entry of virus into host cell|negative regulation of protein transport|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transporter activity|proteasomal ubiquitin-dependent protein catabolic process|protein K63-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasm|nucleus|ubiquitin ligase complex RNA polymerase II transcription factor binding|ubiquitin-protein ligase activity breast(4)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 42 TCCCCGGACCCAGGGGTAAGG 0.602000 OREG0023910 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 16 52 0 0 1 0 0 SPSB4 92369 broad.mit.edu 37 3 140785418 140785418 + Missense_Mutation SNP G G A TCGA-CV-A45R-01A-11D-A24D-08 TCGA-CV-A45R-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ca16f0b-5471-40a1-976d-409a8bea7c0c 1d6f4a43-d1b5-4c30-aec7-ad78a5d6c5b8 g.chr3:140785418G>A ENST00000310546.2 + 2 1216 c.472G>A c.(472-474)Ggc>Agc p.G158S NM_080862.1 NP_543138.1 Q96A44 SPSB4_HUMAN splA/ryanodine receptor domain and SOCS box containing 4 158 B30.2/SPRY. intracellular signal transduction cytoplasm protein binding biliary_tract(1)|large_intestine(1)|lung(1)|pancreas(1) 4 GAACCAGCCCGGCGTGGCCTA 0.687000 4 18 0 0 1 0 0 FAT1 2195 broad.mit.edu 37 4 187517847 187517847 + Missense_Mutation SNP C C T TCGA-CV-A45R-01A-11D-A24D-08 TCGA-CV-A45R-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ca16f0b-5471-40a1-976d-409a8bea7c0c 1d6f4a43-d1b5-4c30-aec7-ad78a5d6c5b8 g.chr4:187517847C>T ENST00000441802.2 - 25 13056 c.12847G>A c.(12847-12849)Gaa>Aaa p.E4283K NM_005245.3 NP_005236.2 Q14517 FAT1_HUMAN FAT atypical cadherin 1 4283 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 GTGCTGAATTCGGGATGCTCT 0.557000 HNSCC(5;0.00058) 16 27 0 0 1 0 0 FLVCR2 55640 broad.mit.edu 37 14 76045896 76045896 + Missense_Mutation SNP T T A TCGA-CV-A45R-01A-11D-A24D-08 TCGA-CV-A45R-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ca16f0b-5471-40a1-976d-409a8bea7c0c 1d6f4a43-d1b5-4c30-aec7-ad78a5d6c5b8 g.chr14:76045896T>A ENST00000238667.4 + 1 937 c.581T>A c.(580-582)aTc>aAc p.I194N AC007182.6_ENST00000455232.1_RNA NM_017791.2 NP_060261.2 Q9UPI3 FLVC2_HUMAN feline leukemia virus subgroup C cellular receptor family, member 2 194 transmembrane transport integral to membrane|plasma membrane heme binding|heme transporter activity endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|upper_aerodigestive_tract(1) 15 BRCA - Breast invasive adenocarcinoma(234;0.029) CAGGTTTTCATCCTGGGCATG 0.602000 27 50 0 0 1 0 0 TMEM52 339456 broad.mit.edu 37 1 1850628 1850636 + In_Frame_Del DEL AGCGGCAGG AGCGGCAGG - TCGA-CV-A45R-01A-11D-A24D-08 TCGA-CV-A45R-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ca16f0b-5471-40a1-976d-409a8bea7c0c 1d6f4a43-d1b5-4c30-aec7-ad78a5d6c5b8 g.chr1:1850628_1850636delAGCGGCAGG ENST00000310991.3 - 1 76_84 c.69_77delCCTGCCGCT c.(67-78)ctg>ct p.LLPL23del NM_178545.3 NP_848640.1 Q8NDY8 TMM52_HUMAN transmembrane protein 52 23 integral to membrane NS(1)|prostate(1)|stomach(1) 3 all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;6.04e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217) Epithelial(90;1.82e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.75e-23)|GBM - Glioblastoma multiforme(42;9e-08)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00435)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199) CACCTgcggcagcggcaggagcggcagga 0.766 6 7 --- --- --- --- CDKN2A 1029 broad.mit.edu 37 9 21971124 21971125 + Frame_Shift_Del DEL GA GA - TCGA-CV-A45R-01A-11D-A24D-08 TCGA-CV-A45R-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ca16f0b-5471-40a1-976d-409a8bea7c0c 1d6f4a43-d1b5-4c30-aec7-ad78a5d6c5b8 g.chr9:21971124_21971125delGA ENST00000579755.1 - 2 568_569 c.276_277delTC c.(274-279)tcacfs p.SH92fs RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000498628.2_Frame_Shift_Del_p.L27fs|CDKN2A_ENST00000497750.1_Frame_Shift_Del_p.L27fs|CDKN2A_ENST00000446177.1_Frame_Shift_Del_p.L78fs|CDKN2A_ENST00000304494.5_Frame_Shift_Del_p.L78fs|CDKN2A_ENST00000361570.3_Frame_Shift_Del_p.SH133fs|CDKN2A_ENST00000498124.1_Frame_Shift_Del_p.L78fs|CDKN2A_ENST00000479692.2_Frame_Shift_Del_p.L27fs|CDKN2A_ENST00000530628.2_Frame_Shift_Del_p.SH92fs|CDKN2A_ENST00000579122.1_Frame_Shift_Del_p.L78fs|CDKN2A_ENST00000494262.1_Frame_Shift_Del_p.L27fs|CDKN2A_ENST00000578845.2_Frame_Shift_Del_p.L27fs P42771 CD2A1_HUMAN cyclin-dependent kinase inhibitor 2A 0 cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence cytosol|nucleus cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding p.0?(1315)|p.?(44)|p.L78fs*41(11)|p.L65fs*38(1)|p.0(1)|p.L78fs*67(1)|p.A76fs*64(1)|p.T79fs*41(1)|p.E61_L94del(1)|p.H134fs*>40(1)|p.A68fs*3(1)|p.H134fs*41(1)|p.L78H(1) NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2) 4199 all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172) all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05) CGGGTCGGGTGAGAGTGGCGGG 0.723 17 HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07) 21 34 --- --- --- --- ZKSCAN2 342357 broad.mit.edu 37 16 25258204 25258215 + In_Frame_Del DEL GGTTTATCAGTG GGTTTATCAGTG - TCGA-CV-A45R-01A-11D-A24D-08 TCGA-CV-A45R-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ca16f0b-5471-40a1-976d-409a8bea7c0c 1d6f4a43-d1b5-4c30-aec7-ad78a5d6c5b8 g.chr16:25258204_25258215delGGTTTATCAGTG ENST00000328086.7 - 5 2105_2116 c.1302_1313delCACTGATAAACC c.(1300-1314)tca>tc p.STDKP434del NM_001012981.4 NP_001012999.3 Q63HK3 ZKSC2_HUMAN zinc finger with KRAB and SCAN domains 2 434 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1) 36 GBM - Glioblastoma multiforme(48;0.0378) CATCTCCTTTGGTTTATCAGTGGACGGAGCAC 0.495 10 99 --- --- --- --- HERC2P4 100289574 broad.mit.edu 37 16 32126964 32126964 + RNA DEL T T - rs77063499 TCGA-CV-A45R-01A-11D-A24D-08 TCGA-CV-A45R-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ca16f0b-5471-40a1-976d-409a8bea7c0c 1d6f4a43-d1b5-4c30-aec7-ad78a5d6c5b8 g.chr16:32126964delT ENST00000564145.1 - 0 456 TTGCCCCCCCTGCCGCCGCGG 0.692 3 3 --- --- --- --- RP11-439I14.2 0 broad.mit.edu 37 16 64770704 64770705 + RNA INS - - CCAGTGATGGTCACCT rs140029302 by1000genomes TCGA-CV-A45R-01A-11D-A24D-08 TCGA-CV-A45R-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ca16f0b-5471-40a1-976d-409a8bea7c0c 1d6f4a43-d1b5-4c30-aec7-ad78a5d6c5b8 g.chr16:64770704_64770705insCCAGTGATGGTCACCT ENST00000564293.1 + 0 453_454 TGTCACCACTGCCACCTTGTTC 0.371 2 4 --- --- --- ---