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 MNDA 4332 broad.mit.edu 37 1 158817562 158817562 + Silent SNP T T C TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 125ccb76-bf8d-4ce7-a04c-4424d6da0322 41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a g.chr1:158817562T>C ENST00000368141.4 + 6 1293 c.1032T>C c.(1030-1032)aaT>aaC p.N344N NM_002432.1 NP_002423.1 P41218 MNDA_HUMAN myeloid cell nuclear differentiation antigen 344 HIN-200. B cell receptor signaling pathway|cellular defense response|negative regulation of B cell proliferation|positive regulation of apoptosis|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent cytoplasm|nucleus DNA binding NS(2)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(1)|lung(26)|ovary(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 65 all_hematologic(112;0.0378) TACAGGATAATACAGGATCCA 0.378000 12 73 0 0 0.013537 0 0 BEND2 139105 broad.mit.edu 37 X 18192280 18192280 + Silent SNP A A C TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 125ccb76-bf8d-4ce7-a04c-4424d6da0322 41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a g.chrX:18192280A>C ENST00000380033.4 - 12 1983 c.1851T>G c.(1849-1851)tcT>tcG p.S617S BEND2_ENST00000380030.3_Silent_p.S526S NM_153346.4 NP_699177.2 Q8NDZ0 BEND2_HUMAN BEN domain containing 2 617 NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(11)|liver(1)|lung(21)|ovary(3)|prostate(1) 49 GAAACATCCAAGAACAGCCTT 0.438000 25 58 0 0 0.003954 0 0 ZNF644 84146 broad.mit.edu 37 1 91404992 91404992 + Missense_Mutation SNP G G C TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 125ccb76-bf8d-4ce7-a04c-4424d6da0322 41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a g.chr1:91404992G>C ENST00000370440.1 - 3 2136 c.1919C>G c.(1918-1920)aCt>aGt p.T640S ZNF644_ENST00000467231.1_Intron|ZNF644_ENST00000347275.5_Intron|ZNF644_ENST00000361321.5_Intron|ZNF644_ENST00000337393.5_Missense_Mutation_p.T640S Q9H582 ZN644_HUMAN zinc finger protein 644 640 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(4)|endometrium(2)|large_intestine(10)|lung(21)|ovary(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2) 47 all_lung(203;0.00206)|Lung NSC(277;0.0519)|Lung SC(238;0.101) all cancers(265;0.00102)|Epithelial(280;0.00766)|KIRC - Kidney renal clear cell carcinoma(1967;0.147)|OV - Ovarian serous cystadenocarcinoma(397;0.173) TAATGTTTTAGTGCTATCACT 0.348000 3 112 0 0 0.004672 0 0 GPR3 2827 broad.mit.edu 37 1 27721255 27721255 + Missense_Mutation SNP C C T TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 125ccb76-bf8d-4ce7-a04c-4424d6da0322 41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a g.chr1:27721255C>T ENST00000374024.3 + 2 1052 c.953C>T c.(952-954)tCc>tTc p.S318F NM_005281.2 NP_005272.1 P46089 GPR3_HUMAN G protein-coupled receptor 3 318 activation of adenylate cyclase activity by G-protein signaling pathway integral to plasma membrane endometrium(3)|lung(3)|ovary(1)|skin(1) 8 Breast(348;1.53e-05)|Ovarian(437;0.0606)|all_lung(284;0.157) UCEC - Uterine corpus endometrioid carcinoma (279;0.0415)|OV - Ovarian serous cystadenocarcinoma(117;2.81e-26)|Colorectal(126;1.24e-08)|KIRC - Kidney renal clear cell carcinoma(1967;3.23e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;4.45e-06)|Lung(427;0.00163)|STAD - Stomach adenocarcinoma(196;0.00303)|LUSC - Lung squamous cell carcinoma(448;0.008)|READ - Rectum adenocarcinoma(331;0.0419) TGTTCCTCTTCCAAGATCCCC 0.527000 26 156 0 0 0.007291 0 0 STK33 65975 broad.mit.edu 37 11 8414087 8414087 + Silent SNP G G A TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 125ccb76-bf8d-4ce7-a04c-4424d6da0322 41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a g.chr11:8414087G>A ENST00000447869.1 - 12 2433 c.1515C>T c.(1513-1515)ggC>ggT p.G505G STK33_ENST00000396672.1_Silent_p.G505G|STK33_ENST00000534493.1_Silent_p.G464G|STK33_ENST00000396673.1_Silent_p.G439G|STK33_ENST00000315204.1_Silent_p.G505G|STK33_ENST00000473980.1_5'UTR|STK33_ENST00000358872.3_Silent_p.G318G Q9BYT3 STK33_HUMAN serine/threonine kinase 33 505 Golgi apparatus|nucleus|perinuclear region of cytoplasm ATP binding|protein serine/threonine kinase activity NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|skin(3) 23 Epithelial(150;2.13e-06)|BRCA - Breast invasive adenocarcinoma(625;0.239) TGGACAGGGCGCCGGATTTAG 0.483000 34 201 0 0 0.004289 0 0 OR4K15 81127 broad.mit.edu 37 14 20443780 20443780 + Missense_Mutation SNP G G A TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 125ccb76-bf8d-4ce7-a04c-4424d6da0322 41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a g.chr14:20443780G>A ENST00000305051.5 + 1 178 c.103G>A c.(103-105)Gaa>Aaa p.E35K NM_001005486.1 NP_001005486.1 Q8NH41 OR4KF_HUMAN olfactory receptor, family 4, subfamily K, member 15 35 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(3)|kidney(2)|large_intestine(6)|lung(23)|ovary(1)|prostate(2)|skin(1)|stomach(1) 39 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;3.58e-06) GBM - Glioblastoma multiforme(265;0.00327) TCGGGTGACAGAATTTGTGTT 0.398000 12 101 0 0 0.013537 0 0 NTM 50863 broad.mit.edu 37 11 132016253 132016253 + Nonsense_Mutation SNP G G A TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 125ccb76-bf8d-4ce7-a04c-4424d6da0322 41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a g.chr11:132016253G>A ENST00000374786.1 + 2 724 c.245G>A c.(244-246)tGg>tAg p.W82* NTM_ENST00000374784.1_Nonsense_Mutation_p.W82*|NTM_ENST00000425719.2_Nonsense_Mutation_p.W82*|NTM_ENST00000374791.3_Nonsense_Mutation_p.W82*|NTM_ENST00000427481.2_Nonsense_Mutation_p.W73*|NTM_ENST00000539799.1_Nonsense_Mutation_p.W82* NM_001144058.1|NM_016522.2 NP_001137530.1|NP_057606.1 Q9P121 NTRI_HUMAN neurotrimin 82 Ig-like C2-type 1. cell adhesion|neuron recognition anchored to membrane|plasma membrane breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(9)|lung(30)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 56 AATGACAAGTGGTGCCTGGAT 0.567000 14 61 0 0 0.003163 0 0 IRF1 3659 broad.mit.edu 37 5 131819736 131819736 + Silent SNP G G A TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 125ccb76-bf8d-4ce7-a04c-4424d6da0322 41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a g.chr5:131819736G>A ENST00000245414.4 - 10 1143 c.885C>T c.(883-885)ttC>ttT p.F295F IRF1_ENST00000405885.2_Silent_p.F295F NM_002198.2 NP_002189.1 P10914 IRF1_HUMAN interferon regulatory factor 1 295 blood coagulation|cellular response to mechanical stimulus|interferon-gamma-mediated signaling pathway|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway nucleoplasm cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(2)|prostate(2)|skin(1)|urinary_tract(1) 11 all_cancers(142;0.026)|Breast(839;0.198) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) LUAD - Lung adenocarcinoma(142;0.247) TCAGATCTGTGAAGACACGCT 0.582000 5 59 0 0 0.000602 0 0 PPP1R15B 84919 broad.mit.edu 37 1 204378784 204378784 + Missense_Mutation SNP G G A TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 125ccb76-bf8d-4ce7-a04c-4424d6da0322 41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a g.chr1:204378784G>A ENST00000367188.4 - 1 2135 c.1756C>T c.(1756-1758)Cgt>Tgt p.R586C RP11-739N20.2_ENST00000443515.1_RNA NM_032833.3 NP_116222.3 Q5SWA1 PR15B_HUMAN protein phosphatase 1, regulatory subunit 15B 586 regulation of translation breast(3)|cervix(1)|kidney(4)|large_intestine(3)|lung(16)|ovary(1)|pancreas(2)|skin(1)|urinary_tract(3) 34 all_cancers(21;0.0032)|all_neural(3;0.0218)|Glioma(3;0.0382)|Breast(84;0.179)|all_epithelial(62;0.193)|Prostate(682;0.227) all cancers(3;1.14e-29)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.139) TTTGAGTCACGACAGCCTTTC 0.438000 4 54 0 0 0.009096 0 0 CMYA5 202333 broad.mit.edu 37 5 79030301 79030301 + Missense_Mutation SNP C C G TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 125ccb76-bf8d-4ce7-a04c-4424d6da0322 41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a g.chr5:79030301C>G ENST00000446378.2 + 2 5744 c.5713C>G c.(5713-5715)Caa>Gaa p.Q1905E NM_153610.3 NP_705838.3 Q8N3K9 CMYA5_HUMAN cardiomyopathy associated 5 1905 perinuclear region of cytoplasm NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1) 128 Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262) OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35) TGTGGCTAGTCAACACGAACA 0.468000 7 42 0 0 0.003080 0 0 ZNF568 374900 broad.mit.edu 37 19 37440746 37440746 + Missense_Mutation SNP T T G TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 125ccb76-bf8d-4ce7-a04c-4424d6da0322 41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a g.chr19:37440746T>G ENST00000415168.1 + 5 875 c.499T>G c.(499-501)Ttc>Gtc p.F167V ZNF568_ENST00000333987.7_Missense_Mutation_p.F231V|ZNF568_ENST00000427117.1_Intron|ZNF568_ENST00000455427.2_Intron NM_001204837.1 NP_001191766.1 Q3ZCX4 ZN568_HUMAN zinc finger protein 568 231 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(9)|ovary(1) 29 Esophageal squamous(110;0.183) COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) TGGACAAGACTTCAGTCATAA 0.388000 10 57 0 0 0.006214 0 0 LAMB4 22798 broad.mit.edu 37 7 107667339 107667339 + Missense_Mutation SNP C C G TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 125ccb76-bf8d-4ce7-a04c-4424d6da0322 41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a g.chr7:107667339C>G ENST00000388780.3 - 34 5251 c.5168G>C c.(5167-5169)aGa>aCa p.R1723T LAMB4_ENST00000483484.1_Intron|LAMB4_ENST00000388781.3_Intron|LAMB4_ENST00000205386.4_Intron A4D0S4 LAMB4_HUMAN laminin, beta 4 0 Domain I. cell adhesion basement membrane NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4) 97 ATTTTTCTATCTTGCTGAGTT 0.458000 7 46 0 0 0.003080 0 0 ITGA3 3675 broad.mit.edu 37 17 48148225 48148225 + Nonsense_Mutation SNP C C T TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 125ccb76-bf8d-4ce7-a04c-4424d6da0322 41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a g.chr17:48148225C>T ENST00000320031.8 + 5 1012 c.682C>T c.(682-684)Cag>Tag p.Q228* ITGA3_ENST00000544892.1_Nonsense_Mutation_p.Q3*|ITGA3_ENST00000007722.7_Nonsense_Mutation_p.Q228* NM_002204.2|NM_005501.2 NP_002195.1|NP_005492.1 P26006 ITA3_HUMAN integrin, alpha 3 (antigen CD49C, alpha 3 subunit of VLA-3 receptor) 228 blood coagulation|cell-matrix adhesion|integrin-mediated signaling pathway|leukocyte migration cell surface|integrin complex protein binding|receptor activity endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2) 31 CTACATGATTCAGCGCAAGGA 0.502000 37 229 0 0 0.006999 0 0 TULP4 56995 broad.mit.edu 37 6 158924402 158924402 + Missense_Mutation SNP C C T TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 125ccb76-bf8d-4ce7-a04c-4424d6da0322 41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a g.chr6:158924402C>T ENST00000367097.3 + 13 5064 c.3707C>T c.(3706-3708)tCc>tTc p.S1236F TULP4_ENST00000367094.2_Intron NM_020245.4 NP_064630.2 Q9NRJ4 TULP4_HUMAN tubby like protein 4 1236 intracellular signal transduction|response to nutrient cytoplasm protein binding|sequence-specific DNA binding transcription factor activity endometrium(7)|kidney(2)|large_intestine(15)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 49 Breast(66;0.000781)|Ovarian(120;0.0308)|Lung SC(201;0.164)|Prostate(117;0.171) OV - Ovarian serous cystadenocarcinoma(65;1.64e-18)|BRCA - Breast invasive adenocarcinoma(81;2.67e-05) CCCAGCCTCTCCTATTGCACC 0.607000 14 85 0 0 0.008871 0 0 SNORA71C 677839 broad.mit.edu 37 20 37058387 37058387 + RNA SNP T T C TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 125ccb76-bf8d-4ce7-a04c-4424d6da0322 41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a g.chr20:37058387T>C ENST00000364642.1 - 0 59 NR_003017.2 CGGCAGTTCCTCTCCCTGCAC 0.587000 3 89 0 0 0.004672 0 0 ZNF281 23528 broad.mit.edu 37 1 200377024 200377024 + Missense_Mutation SNP C C A TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 125ccb76-bf8d-4ce7-a04c-4424d6da0322 41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a g.chr1:200377024C>A ENST00000294740.2 - 2 1934 c.1810G>T c.(1810-1812)Gat>Tat p.D604Y ZNF281_ENST00000367352.3_Missense_Mutation_p.D568Y|ZNF281_ENST00000367353.1_Missense_Mutation_p.D604Y NM_012482.3 NP_036614.1 Q9Y2X9 ZN281_HUMAN zinc finger protein 281 604 negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding breast(4)|endometrium(3)|kidney(3)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 27 AAAACCTCATCAGGAATTCCA 0.388000 7 52 2.7689e-08 5.22864e-08 0.001984 1 0 OR4D6 219983 broad.mit.edu 37 11 59224763 59224763 + Silent SNP A A G TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 125ccb76-bf8d-4ce7-a04c-4424d6da0322 41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a g.chr11:59224763A>G ENST00000300127.2 + 1 353 c.330A>G c.(328-330)gcA>gcG p.A110A NM_001004708.1 NP_001004708.1 Q8NGJ1 OR4D6_HUMAN olfactory receptor, family 4, subfamily D, member 6 110 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 34 CTGGTGGGGCAGATATTTTTT 0.488000 23 163 0 0 0.002780 0 0 FAT1 2195 broad.mit.edu 37 4 187541760 187541760 + Nonsense_Mutation SNP C C A TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 125ccb76-bf8d-4ce7-a04c-4424d6da0322 41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a g.chr4:187541760C>A ENST00000441802.2 - 10 6189 c.5980G>T c.(5980-5982)Gag>Tag p.E1994* NM_005245.3 NP_005236.2 Q14517 FAT1_HUMAN FAT atypical cadherin 1 1994 Cadherin 18. 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 p.E1994K(1)|p.E1997K(1) 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 GTTTCGGCCTCGGTGGAATTC 0.418000 HNSCC(5;0.00058) 101 237 6.65942e-36 1.28881e-35 0.014410 1 0 TBC1D1 23216 broad.mit.edu 37 4 38134714 38134714 + Missense_Mutation SNP A A G TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 125ccb76-bf8d-4ce7-a04c-4424d6da0322 41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a g.chr4:38134714A>G ENST00000261439.4 + 19 3497 c.3142A>G c.(3142-3144)Atg>Gtg p.M1048V TBC1D1_ENST00000508802.1_Missense_Mutation_p.M1039V|TBC1D1_ENST00000407365.1_3'UTR NM_001253914.1|NM_001253915.1|NM_015173.3 NP_001240843.1|NP_001240844.1|NP_055988.2 Q86TI0 TBCD1_HUMAN TBC1 (tre-2/USP6, BUB2, cdc16) domain family, member 1 1048 nucleus Rab GTPase activator activity NS(1)|breast(3)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1) 36 GGTATTTGAAATGGACATCGC 0.423000 8 51 0 0 0.004482 0 0 CACNG5 27091 broad.mit.edu 37 17 64876761 64876761 + Missense_Mutation SNP G G A rs145214481 TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 125ccb76-bf8d-4ce7-a04c-4424d6da0322 41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a g.chr17:64876761G>A ENST00000533854.1 + 4 608 c.371G>A c.(370-372)cGt>cAt p.R124H CACNG5_ENST00000307139.3_Missense_Mutation_p.R124H|CACNG5_ENST00000169565.3_Missense_Mutation_p.R124H Q9UF02 CCG5_HUMAN calcium channel, voltage-dependent, gamma subunit 5 124 regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|postsynaptic density|postsynaptic membrane voltage-gated calcium channel activity NS(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)|skin(2) 24 BRCA - Breast invasive adenocarcinoma(6;1.61e-08) GGACACATCCGTCCCCACCGG 0.458000 20 129 0 0 0.008871 0 0 KLHL31 401265 broad.mit.edu 37 6 53516703 53516703 + Missense_Mutation SNP A A G TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 125ccb76-bf8d-4ce7-a04c-4424d6da0322 41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a g.chr6:53516703A>G ENST00000370905.3 - 3 1738 c.1598T>C c.(1597-1599)cTc>cCc p.L533P KLHL31_ENST00000407079.1_Missense_Mutation_p.L533P NM_001003760.4 NP_001003760.2 Q9H511 KLH31_HUMAN kelch-like family member 31 533 regulation of transcription, DNA-dependent|transcription, DNA-dependent autonomic_ganglia(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|prostate(3) 20 Lung NSC(77;0.0158) CTCCACGGTGAGCACGTCCAC 0.736000 3 17 0 0 0.004672 0 0 PROS1 5627 broad.mit.edu 37 3 93617301 93617301 + Missense_Mutation SNP C C G TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 125ccb76-bf8d-4ce7-a04c-4424d6da0322 41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a g.chr3:93617301C>G ENST00000394236.3 - 8 1156 c.840G>C c.(838-840)aaG>aaC p.K280N PROS1_ENST00000407433.1_Missense_Mutation_p.K149N NM_000313.3 NP_000304.2 P07225 PROS_HUMAN protein S (alpha) 280 EGF-like 4; calcium-binding (Potential). leukocyte migration|peptidyl-glutamic acid carboxylation|platelet activation|platelet degranulation|post-translational protein modification|proteolysis endoplasmic reticulum membrane|extracellular region|Golgi lumen|Golgi membrane|platelet alpha granule lumen calcium ion binding|endopeptidase inhibitor activity endometrium(3)|kidney(5)|large_intestine(8)|lung(26)|ovary(1)|skin(2)|urinary_tract(1) 46 Antihemophilic Factor(DB00025)|Drotrecogin alfa(DB00055)|Menadione(DB00170) CCTCACAACTCTTCTGATCTT 0.383000 5 64 0 0 0.001168 0 0 TRMT11 60487 broad.mit.edu 37 6 126334221 126334221 + Silent SNP C C T TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 125ccb76-bf8d-4ce7-a04c-4424d6da0322 41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a g.chr6:126334221C>T ENST00000334379.5 + 11 1234 c.1113C>T c.(1111-1113)gtC>gtT p.V371V TRMT11_ENST00000368332.3_Silent_p.V371V NM_001031712.2 NP_001026882.2 Q7Z4G4 TRM11_HUMAN tRNA methyltransferase 11 homolog (S. cerevisiae) 371 tRNA processing methyltransferase activity|nucleic acid binding NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 GBM - Glioblastoma multiforme(226;0.0356) GAAGACTAGTCTATTGGTTAC 0.343000 7 30 0 0 0.003080 0 0 PSRC1 84722 broad.mit.edu 37 1 109824269 109824269 + Missense_Mutation SNP G G C TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 125ccb76-bf8d-4ce7-a04c-4424d6da0322 41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a g.chr1:109824269G>C ENST00000438534.2 - 4 629 c.491C>G c.(490-492)tCt>tGt p.S164C PSRC1_ENST00000409267.1_Missense_Mutation_p.S164C|PSRC1_ENST00000409138.2_Missense_Mutation_p.S164C|PSRC1_ENST00000369903.2_Missense_Mutation_p.S164C|PSRC1_ENST00000369904.3_Missense_Mutation_p.S164C|PSRC1_ENST00000369907.3_Missense_Mutation_p.S164C|PSRC1_ENST00000369909.2_Missense_Mutation_p.S164C NM_001005290.3 NP_001005290.1 Q6PGN9 PSRC1_HUMAN proline/serine-rich coiled-coil 1 164 4 X 4 AA repeats of P-X-X-P. cell division|microtubule bundle formation|mitotic metaphase plate congression|negative regulation of cell growth|positive regulation of microtubule polymerization|positive regulation of transcription, DNA-dependent|regulation of mitotic spindle organization cytosol|midbody|spindle pole microtubule binding endometrium(1)|large_intestine(1)|lung(2)|prostate(2)|skin(1) 7 all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244) Colorectal(144;0.0286)|Lung(183;0.0658)|COAD - Colon adenocarcinoma(174;0.112)|Epithelial(280;0.188)|all cancers(265;0.213) CCTCTTTCCAGATGTAGCCCG 0.577000 18 84 0 0 0.007413 0 0 CCDC151 115948 broad.mit.edu 37 19 11532486 11532486 + Silent SNP G G A TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 125ccb76-bf8d-4ce7-a04c-4424d6da0322 41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a g.chr19:11532486G>A ENST00000356392.4 - 11 1536 c.1449C>T c.(1447-1449)ttC>ttT p.F483F CCDC151_ENST00000591179.1_Silent_p.F423F|CCDC151_ENST00000545100.1_Silent_p.F429F|CCDC151_ENST00000586836.1_Silent_p.F292F NM_145045.4 NP_659482.3 A5D8V7 CC151_HUMAN coiled-coil domain containing 151 483 endometrium(2)|large_intestine(1)|lung(7)|ovary(1)|prostate(1) 12 CCTTTCCCGCGAAGCGGCCGT 0.662000 11 65 0 0 0.013537 0 0 ZWINT 11130 broad.mit.edu 37 10 58118574 58118574 + Missense_Mutation SNP C C G TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 125ccb76-bf8d-4ce7-a04c-4424d6da0322 41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a g.chr10:58118574C>G ENST00000373944.3 - 6 653 c.615G>C c.(613-615)aaG>aaC p.K205N ZWINT_ENST00000460654.1_5'UTR|ZWINT_ENST00000395405.1_Missense_Mutation_p.K205N|ZWINT_ENST00000318387.2_Missense_Mutation_p.K85N|ZWINT_ENST00000361148.6_Intron O95229 ZWINT_HUMAN ZW10 interacting kinetochore protein 205 cell division|establishment of localization in cell|mitotic cell cycle checkpoint|mitotic prometaphase|mitotic sister chromatid segregation|phosphatidylinositol-mediated signaling|spindle organization condensed chromosome kinetochore|cytosol|nucleus protein N-terminus binding NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|prostate(1) 20 ACCTCTGCAGCTTGTCCCGCT 0.517000 20 138 0 0 0.012319 0 0 PKDREJ 10343 broad.mit.edu 37 22 46654584 46654584 + Missense_Mutation SNP C C T TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 125ccb76-bf8d-4ce7-a04c-4424d6da0322 41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a g.chr22:46654584C>T ENST00000253255.5 - 1 4635 c.4636G>A c.(4636-4638)Gat>Aat p.D1546N NM_006071.1 NP_006062.1 Q9NTG1 PKDRE_HUMAN polycystin (PKD) family receptor for egg jelly 1546 acrosome reaction|neuropeptide signaling pathway integral to membrane calcium ion binding|ion channel activity NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2) 73 Ovarian(80;0.00965)|all_neural(38;0.0416) UCEC - Uterine corpus endometrioid carcinoma (28;0.00459) TCCTGATCATCTTCTATGTTG 0.483000 33 233 0 0 0.003755 0 0 ANKHD1 54882 broad.mit.edu 37 5 139885401 139885401 + Missense_Mutation SNP G G C TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 125ccb76-bf8d-4ce7-a04c-4424d6da0322 41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a g.chr5:139885401G>C ENST00000297183.6 + 18 3479 c.3355G>C c.(3355-3357)Gaa>Caa p.E1119Q ANKHD1_ENST00000360839.2_Missense_Mutation_p.E1119Q|ANKHD1-EIF4EBP3_ENST00000532219.1_Missense_Mutation_p.E1119Q NM_020690.5 NP_065741.3 ankyrin repeat and KH domain containing 1 breast(2)|endometrium(8)|kidney(6)|large_intestine(14)|lung(18)|ovary(5)|prostate(2)|skin(3)|urinary_tract(2) 60 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) AGCACAGTCTGAACGAACTAA 0.393000 17 149 0 0 0.008871 0 0 MUC7 4589 broad.mit.edu 37 4 71346858 71346858 + Missense_Mutation SNP C C A TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 125ccb76-bf8d-4ce7-a04c-4424d6da0322 41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a g.chr4:71346858C>A ENST00000413702.1 + 4 685 c.397C>A c.(397-399)Ccc>Acc p.P133T MUC7_ENST00000304887.5_Missense_Mutation_p.P133T|MUC7_ENST00000456088.1_Missense_Mutation_p.P133T|MUC7_ENST00000514512.1_3'UTR NM_001145006.1 NP_001138478.1 Q8TAX7 MUC7_HUMAN mucin 7, secreted 133 Thr-rich. extracellular region protein binding central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(2)|lung(23)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 42 Lung(101;0.211) GACTTTTCTTCCCCAGAATGC 0.448000 13 106 4.3838e-07 8.08198e-07 0.001855 1 0 NEK3 4752 broad.mit.edu 37 13 52709904 52709904 + Missense_Mutation SNP G G C TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 125ccb76-bf8d-4ce7-a04c-4424d6da0322 41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a g.chr13:52709904G>C ENST00000400357.2 - 12 2512 c.1219C>G c.(1219-1221)Ctc>Gtc p.L407V NEK3_ENST00000378101.2_Missense_Mutation_p.L424V|NEK3_ENST00000339406.3_Missense_Mutation_p.L424V|NEK3_ENST00000452082.2_Missense_Mutation_p.L428V P51956 NEK3_HUMAN NIMA-related kinase 3 424 cell division|mitosis nucleus ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|stomach(2) 18 Breast(56;0.000207)|Lung NSC(96;0.00145)|Prostate(109;0.034)|Hepatocellular(98;0.065)|all_neural(104;0.173) GBM - Glioblastoma multiforme(99;2.81e-08) GCCAAGCTGAGATCAGCATTC 0.378000 7 39 0 0 0.001984 0 0 SAFB 6294 broad.mit.edu 37 19 5667066 5667066 + Missense_Mutation SNP G G A TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 125ccb76-bf8d-4ce7-a04c-4424d6da0322 41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a g.chr19:5667066G>A ENST00000292123.5 + 18 2451 c.2344G>A c.(2344-2346)Gaa>Aaa p.E782K SAFB_ENST00000592224.1_Missense_Mutation_p.E781K|SAFB_ENST00000588852.1_Missense_Mutation_p.E782K|SAFB_ENST00000538656.1_Missense_Mutation_p.E624K|SAFB_ENST00000433404.1_Missense_Mutation_p.E612K|SAFB_ENST00000454510.1_Missense_Mutation_p.E713K NM_001201338.1|NM_001201339.1|NM_002967.3 NP_001188267.1|NP_001188268.1|NP_002958.2 Q15424 SAFB1_HUMAN scaffold attachment factor B 782 Arg-rich.|Interaction with POLR2A.|Interaction with SAFB2. chromatin organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus double-stranded DNA binding|nucleotide binding|protein binding|RNA binding breast(3)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|liver(1)|lung(6)|ovary(2)|skin(1) 23 UCEC - Uterine corpus endometrioid carcinoma (162;0.000222) GCATTACCCAGAACGCCATGG 0.607000 14 113 0 0 0.002450 0 0 FGD6 55785 broad.mit.edu 37 12 95603436 95603436 + Nonsense_Mutation SNP G G A TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 125ccb76-bf8d-4ce7-a04c-4424d6da0322 41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a g.chr12:95603436G>A ENST00000343958.4 - 2 1847 c.1624C>T c.(1624-1626)Cag>Tag p.Q542* FGD6_ENST00000549499.1_Nonsense_Mutation_p.Q542*|FGD6_ENST00000546711.1_Nonsense_Mutation_p.Q542* NM_018351.3 NP_060821.3 Q6ZV73 FGD6_HUMAN FYVE, RhoGEF and PH domain containing 6 542 actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape cytoskeleton|Golgi apparatus|lamellipodium|ruffle metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding breast(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(14)|liver(1)|lung(12)|ovary(3)|prostate(3)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 56 CACAAATGCTGAAGGTGATTT 0.423000 10 89 0 0 0.006214 0 0 ZNF782 158431 broad.mit.edu 37 9 99581236 99581236 + Nonsense_Mutation SNP G G A TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 125ccb76-bf8d-4ce7-a04c-4424d6da0322 41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a g.chr9:99581236G>A ENST00000481138.1 - 6 1730 c.1069C>T c.(1069-1071)Cag>Tag p.Q357* ZNF782_ENST00000535338.1_Nonsense_Mutation_p.Q225* NM_001001662.1 NP_001001662.1 Q6ZMW2 ZN782_HUMAN zinc finger protein 782 357 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(8)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(3) 33 Acute lymphoblastic leukemia(62;0.0527) TGAACCTTCTGATGTACACTG 0.418000 31 200 0 0 0.010818 0 0 IPO13 9670 broad.mit.edu 37 1 44424510 44424510 + Silent SNP T T C TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 125ccb76-bf8d-4ce7-a04c-4424d6da0322 41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a g.chr1:44424510T>C ENST00000372343.3 + 11 2639 c.1977T>C c.(1975-1977)gaT>gaC p.D659D NM_014652.3 NP_055467.3 O94829 IPO13_HUMAN importin 13 659 protein import into nucleus cytoplasm|nucleus protein binding|protein transporter activity NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(13)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 40 Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0821) ATGAGGATGATCATGAAGGCC 0.562000 11 78 0 0 0.010729 0 0 FAM111B 374393 broad.mit.edu 37 11 58891901 58891901 + Silent SNP C C T TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 125ccb76-bf8d-4ce7-a04c-4424d6da0322 41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a g.chr11:58891901C>T ENST00000343597.3 + 4 522 c.331C>T c.(331-333)Ctg>Ttg p.L111L FAM111B_ENST00000529618.1_Silent_p.L81L|FAM111B_ENST00000411426.1_Silent_p.L81L NM_198947.3 NP_945185.1 Q6SJ93 F111B_HUMAN family with sequence similarity 111, member B 111 catalytic activity endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(12)|ovary(3)|pancreas(1)|skin(1) 40 CTACTCAGCCCTGAGTGCTAA 0.343000 9 48 0 0 0.004482 0 0 CRY1 1407 broad.mit.edu 37 12 107415889 107415889 + Silent SNP T T C TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 125ccb76-bf8d-4ce7-a04c-4424d6da0322 41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a g.chr12:107415889T>C ENST00000008527.5 - 2 1107 c.240A>G c.(238-240)ccA>ccG p.P80P NM_004075.3 NP_004066.1 Q16526 CRY1_HUMAN cryptochrome 1 (photolyase-like) 80 DNA photolyase. DNA repair|protein-chromophore linkage|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus blue light photoreceptor activity|DNA photolyase activity|double-stranded DNA binding|nucleotide binding|protein binding NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(3)|skin(1) 29 ACACATCTGCTGGTTGTCCAC 0.323000 22 127 0 0 0.006320 0 0 DNM1P47 100216544 broad.mit.edu 37 15 102292787 102292787 + RNA SNP G G C TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 125ccb76-bf8d-4ce7-a04c-4424d6da0322 41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a g.chr15:102292787G>C ENST00000561463.1 + 0 833 CTGCTTCTCAGAGCTGCTGTC 0.602000 5 22 0 0 0.001984 0 0 CPSF7 79869 broad.mit.edu 37 11 61196678 61196678 + Missense_Mutation SNP T T C TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 125ccb76-bf8d-4ce7-a04c-4424d6da0322 41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a g.chr11:61196678T>C ENST00000340437.4 - 2 239 c.159A>G c.(157-159)atA>atG p.I53M CPSF7_ENST00000541963.1_Missense_Mutation_p.I10M|CPSF7_ENST00000448745.1_Missense_Mutation_p.I10M|CPSF7_ENST00000439958.3_Missense_Mutation_p.I10M|CPSF7_ENST00000394888.4_Missense_Mutation_p.I10M NM_024811.3 NP_079087.3 Q8N684 CPSF7_HUMAN cleavage and polyadenylation specific factor 7, 59kDa 10 Poly-Pro. mRNA 3'-end processing|nuclear mRNA splicing, via spliceosome|protein tetramerization|termination of RNA polymerase II transcription mRNA cleavage factor complex nucleotide binding|protein binding|RNA binding breast(3)|central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(5)|skin(2)|upper_aerodigestive_tract(1) 22 CGTCAGCATATATATCAATCA 0.483000 30 162 0 0 0.013726 0 0 HUWE1 10075 broad.mit.edu 37 X 53617986 53617986 + Missense_Mutation SNP G G A TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 125ccb76-bf8d-4ce7-a04c-4424d6da0322 41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a g.chrX:53617986G>A ENST00000342160.3 - 33 4526 c.4069C>T c.(4069-4071)Cct>Tct p.P1357S HUWE1_ENST00000262854.6_Missense_Mutation_p.P1357S|HUWE1_ENST00000218328.8_Missense_Mutation_p.P1357S Q7Z6Z7 HUWE1_HUMAN HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase 1357 base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasm|nucleus DNA binding|protein binding|ubiquitin-protein ligase activity NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2) 153 ATGATTGGAGGAGGGTGGGTT 0.488000 4 20 0 0 0.009096 0 0 C1orf127 148345 broad.mit.edu 37 1 11017770 11017770 + Missense_Mutation SNP G G A TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 125ccb76-bf8d-4ce7-a04c-4424d6da0322 41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a g.chr1:11017770G>A ENST00000377004.4 - 7 595 c.596C>T c.(595-597)tCt>tTt p.S199F C1orf127_ENST00000377008.4_Missense_Mutation_p.S50F NM_001170754.1 NP_001164225.1 B7ZLG7 B7ZLG7_HUMAN chromosome 1 open reading frame 127 50 NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(5) 32 Ovarian(185;0.249) Lung NSC(185;0.000226)|all_lung(284;0.000302)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.0139)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0731) STAD - Stomach adenocarcinoma(5;0.0224) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.71e-07)|COAD - Colon adenocarcinoma(227;7.79e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000305)|Kidney(185;0.000785)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|READ - Rectum adenocarcinoma(331;0.0509) GTCTTCAAGAGAAGCCACCAG 0.577000 13 106 0 0 0.013537 0 0 GADD45GIP1 90480 broad.mit.edu 37 19 13065144 13065144 + Missense_Mutation SNP C C G TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 125ccb76-bf8d-4ce7-a04c-4424d6da0322 41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a g.chr19:13065144C>G ENST00000316939.1 - 2 570 c.547G>C c.(547-549)Gag>Cag p.E183Q NM_052850.2 NP_443082.2 Q8TAE8 G45IP_HUMAN growth arrest and DNA-damage-inducible, gamma interacting protein 1 183 cell cycle|interspecies interaction between organisms nucleus protein binding ovary(2)|prostate(1)|skin(1) 4 TCCTTCTTCTCTAGGTCCTGG 0.627000 17 130 0 0 0.006122 0 0 SLC26A2 1836 broad.mit.edu 37 5 149357721 149357721 + Missense_Mutation SNP G G T TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 125ccb76-bf8d-4ce7-a04c-4424d6da0322 41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a g.chr5:149357721G>T ENST00000286298.4 + 2 774 c.506G>T c.(505-507)tGc>tTc p.C169F NM_000112.3 NP_000103.2 P50443 S26A2_HUMAN solute carrier family 26 (anion exchanger), member 2 169 integral to plasma membrane|membrane fraction secondary active sulfate transmembrane transporter activity p.C169F(1) NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(1)|prostate(2)|stomach(1) 18 KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147) GGAGTACTGTGCCTTATGATT 0.448000 18 96 3.41278e-10 6.50771e-10 0.004990 1 0 ACVRL1 94 broad.mit.edu 37 12 52309043 52309043 + Silent SNP G G A TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 125ccb76-bf8d-4ce7-a04c-4424d6da0322 41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a g.chr12:52309043G>A ENST00000550683.1 + 6 950 c.849G>A c.(847-849)tcG>tcA p.S283S ACVRL1_ENST00000419526.2_Silent_p.S95S|ACVRL1_ENST00000388922.4_Silent_p.S269S NM_001077401.1 NP_001070869.1 P37023 ACVL1_HUMAN activin A receptor type II-like 1 269 Protein kinase. blood vessel endothelial cell proliferation involved in sprouting angiogenesis|blood vessel maturation|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of endothelial cell migration|negative regulation of focal adhesion assembly|positive regulation of BMP signaling pathway|positive regulation of transcription, DNA-dependent|regulation of blood pressure|regulation of blood vessel endothelial cell migration|regulation of DNA replication|regulation of endothelial cell proliferation|transforming growth factor beta receptor signaling pathway|wound healing, spreading of epidermal cells cell surface|integral to plasma membrane activin binding|activin receptor activity, type I|ATP binding|metal ion binding|receptor signaling protein serine/threonine kinase activity|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|urinary_tract(1) 20 BRCA - Breast invasive adenocarcinoma(357;0.0991) Adenosine triphosphate(DB00171) CCCGCAACTCGAGCACGCAGC 0.612000 9 68 0 0 0.013537 0 0 MAS1L 116511 broad.mit.edu 37 6 29454874 29454874 + Missense_Mutation SNP G G A TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 125ccb76-bf8d-4ce7-a04c-4424d6da0322 41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a g.chr6:29454874G>A ENST00000377127.3 - 1 864 c.806C>T c.(805-807)tCg>tTg p.S269L NM_052967.1 NP_443199.1 P35410 MAS1L_HUMAN MAS1 oncogene-like 269 cytoplasm|integral to membrane|nucleus|plasma membrane G-protein coupled receptor activity p.S269L(1) NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(7)|pancreas(1)|prostate(2)|skin(2) 28 CATGGGGGCCGAGATCTGCAC 0.512000 7 37 0 0 0.001984 0 0 ZBTB38 253461 broad.mit.edu 37 3 141163924 141163924 + Missense_Mutation SNP G G T TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 125ccb76-bf8d-4ce7-a04c-4424d6da0322 41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a g.chr3:141163924G>T ENST00000514251.1 + 4 2973 c.2694G>T c.(2692-2694)gaG>gaT p.E898D ZBTB38_ENST00000321464.5_Missense_Mutation_p.E899D|ZBTB38_ENST00000441582.2_Missense_Mutation_p.E898D Q8NAP3 ZBT38_HUMAN zinc finger and BTB domain containing 38 898 positive regulation of transcription from RNA polymerase II promoter nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(3)|cervix(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1) 41 AGTGCATGGAGATGAGTGAAG 0.522000 16 49 6.72482e-11 1.28865e-10 0.003163 1 0 RABEPK 10244 broad.mit.edu 37 9 127990196 127990196 + Silent SNP G G T TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 125ccb76-bf8d-4ce7-a04c-4424d6da0322 41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a g.chr9:127990196G>T ENST00000373538.3 + 6 844 c.534G>T c.(532-534)ctG>ctT p.L178L RABEPK_ENST00000259460.8_Silent_p.L127L|RABEPK_ENST00000394124.4_3'UTR|RABEPK_ENST00000394125.4_Silent_p.L178L NM_005833.3 NP_005824.2 Q7Z6M1 RABEK_HUMAN Rab9 effector protein with kelch motifs 178 receptor-mediated endocytosis|vesicle docking involved in exocytosis endosome membrane|plasma membrane NS(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 15 TAGACACTCTGACCTGGTCAC 0.483000 10 68 9.70103e-10 1.84083e-09 0.008291 1 0 SUN3 256979 broad.mit.edu 37 7 48035654 48035654 + Missense_Mutation SNP C C G TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 125ccb76-bf8d-4ce7-a04c-4424d6da0322 41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a g.chr7:48035654C>G ENST00000453192.2 - 8 874 c.631G>C c.(631-633)Gaa>Caa p.E211Q SUN3_ENST00000395572.2_Missense_Mutation_p.E223Q|SUN3_ENST00000297325.4_Missense_Mutation_p.E223Q|SUN3_ENST00000412142.1_Missense_Mutation_p.E123Q|SUN3_ENST00000473723.1_5'UTR Q8TAQ9 SUN3_HUMAN Sad1 and UNC84 domain containing 3 223 SUN. integral to membrane p.E223K(1) central_nervous_system(1)|endometrium(3)|large_intestine(8)|liver(1)|lung(15)|upper_aerodigestive_tract(1)|urinary_tract(1) 30 GGAGGCATTTCATGATTTAGG 0.284000 11 73 0 0 0.013537 0 0 DNAH11 8701 broad.mit.edu 37 7 21775391 21775391 + Missense_Mutation SNP C C T TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 125ccb76-bf8d-4ce7-a04c-4424d6da0322 41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a g.chr7:21775391C>T ENST00000328843.6 + 47 7626 c.7595C>T c.(7594-7596)gCa>gTa p.A2532V DNAH11_ENST00000409508.3_Missense_Mutation_p.A2525V Q96DT5 DYH11_HUMAN dynein, axonemal, heavy chain 11 2532 AAA 3 (By similarity). microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 230 GACACATTGGCAAGTCTCTCT 0.413000 Kartagener syndrome 9 88 0 0 0.004482 0 0 PBRM1 55193 broad.mit.edu 37 3 52623229 52623229 + Nonsense_Mutation SNP G G C rs141067977 by1000genomes TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 125ccb76-bf8d-4ce7-a04c-4424d6da0322 41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a g.chr3:52623229G>C ENST00000356770.4 - 17 2728 c.2726C>G c.(2725-2727)tCa>tGa p.S909* PBRM1_ENST00000337303.4_Nonsense_Mutation_p.S941*|PBRM1_ENST00000296302.7_Nonsense_Mutation_p.S941*|PBRM1_ENST00000410007.1_Nonsense_Mutation_p.S941*|PBRM1_ENST00000409767.1_Nonsense_Mutation_p.S956*|PBRM1_ENST00000409114.3_Nonsense_Mutation_p.S956*|PBRM1_ENST00000409057.1_Nonsense_Mutation_p.S941*|PBRM1_ENST00000394830.3_Nonsense_Mutation_p.S941* Q86U86 PB1_HUMAN polybromo 1 941 chromatin remodeling|mitosis|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent nuclear chromosome chromatin binding|DNA binding|protein binding breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1) 335 BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613) ATGTAAGCCTGAGAGGCCTGC 0.428000 """Mis, N, F, S, D, O""" """clear cell renal carcinoma, breast""" 13 110 0 0 0.001855 0 0 AGTR1 185 broad.mit.edu 37 3 148459824 148459824 + Missense_Mutation SNP G G A TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 125ccb76-bf8d-4ce7-a04c-4424d6da0322 41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a g.chr3:148459824G>A ENST00000542281.1 + 4 1448 c.1002G>A c.(1000-1002)atG>atA p.M334I AGTR1_ENST00000402260.1_Missense_Mutation_p.M334I|AGTR1_ENST00000461609.1_Missense_Mutation_p.M334I|AGTR1_ENST00000474935.1_Missense_Mutation_p.M334I|AGTR1_ENST00000475347.1_Missense_Mutation_p.M334I|AGTR1_ENST00000404754.2_Missense_Mutation_p.M334I|AGTR1_ENST00000418473.2_Missense_Mutation_p.M334I|AGTR1_ENST00000349243.3_Missense_Mutation_p.M334I|AGTR1_ENST00000497524.1_Missense_Mutation_p.M334I NM_031850.3 NP_114038.4 P30556 AGTR1_HUMAN angiotensin II receptor, type 1 334 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) CAACAAAAATGAGCACGCTTT 0.403000 7 44 0 0 0.001984 0 0 NCR1 9437 broad.mit.edu 37 19 55421380 55421380 + Missense_Mutation SNP G G A TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 125ccb76-bf8d-4ce7-a04c-4424d6da0322 41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a g.chr19:55421380G>A ENST00000594765.1 + 5 662 c.637G>A c.(637-639)Gac>Aac p.D213N NCR1_ENST00000350790.5_Missense_Mutation_p.D118N|NCR1_ENST00000291890.4_Missense_Mutation_p.D213N|NCR1_ENST00000447255.1_Missense_Mutation_p.D213N|NCR1_ENST00000357397.5_Missense_Mutation_p.D106N|NCR1_ENST00000338835.5_Missense_Mutation_p.D213N|NCR1_ENST00000598576.1_Missense_Mutation_p.D201N O76036 NCTR1_HUMAN natural cytotoxicity triggering receptor 1 213 cellular defense response|natural killer cell activation|regulation of natural killer cell mediated cytotoxicity integral to plasma membrane|SWI/SNF complex receptor activity|receptor signaling protein activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1) 18 GBM - Glioblastoma multiforme(193;0.0449) TTTTCCAGGCGACATTGAGAA 0.438000 23 169 0 0 0.002780 0 0 NCOA6 23054 broad.mit.edu 37 20 33345744 33345744 + Silent SNP C C T TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 125ccb76-bf8d-4ce7-a04c-4424d6da0322 41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a g.chr20:33345744C>T ENST00000374796.2 - 8 3377 c.807G>A c.(805-807)caG>caA p.Q269Q NCOA6_ENST00000359003.2_Silent_p.Q269Q Q14686 NCOA6_HUMAN nuclear receptor coactivator 6 269 CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|TBP/GTF2A-binding region. brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter transcription factor complex chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding p.Q269Q(15) NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1) 107 gctgctgctgctgttgttgtt 0.537000 5 52 0 0 0.000602 0 0 PSMF1 9491 broad.mit.edu 37 20 1115772 1115772 + Missense_Mutation SNP A A G TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 125ccb76-bf8d-4ce7-a04c-4424d6da0322 41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a g.chr20:1115772A>G ENST00000335877.6 + 4 550 c.374A>G c.(373-375)aAg>aGg p.K125R PSMF1_ENST00000333082.3_Missense_Mutation_p.K125R|PSMF1_ENST00000246015.4_Missense_Mutation_p.K125R|PSMF1_ENST00000438768.2_Intron|PSMF1_ENST00000381898.4_Missense_Mutation_p.K37R|PSMF1_ENST00000484891.1_3'UTR NM_006814.3 NP_006805.2 Q92530 PSMF1_HUMAN proteasome (prosome, macropain) inhibitor subunit 1 (PI31) 125 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|S phase of mitotic cell cycle|viral reproduction proteasome core complex endopeptidase inhibitor activity|protein binding endometrium(1)|kidney(1)|large_intestine(3)|lung(8) 13 AGGACCTACAAGAACAGTGAG 0.552000 7 55 0 0 0.001984 0 0 HIVEP3 59269 broad.mit.edu 37 1 42045932 42045932 + Missense_Mutation SNP G G A TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 125ccb76-bf8d-4ce7-a04c-4424d6da0322 41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a g.chr1:42045932G>A ENST00000372584.1 - 3 5551 c.4537C>T c.(4537-4539)Cct>Tct p.P1513S HIVEP3_ENST00000429157.2_Missense_Mutation_p.P1513S|HIVEP3_ENST00000247584.5_Missense_Mutation_p.P1513S|HIVEP3_ENST00000372583.1_Missense_Mutation_p.P1513S NM_001127714.2 NP_001121186.1 Q5T1R4 ZEP3_HUMAN human immunodeficiency virus type I enhancer binding protein 3 1513 positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus zinc ion binding NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 85 Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0367) GGGAGGGGAGGAATTTCCTTT 0.557000 6 57 0 0 0.001984 0 0 HLA-DOA 3111 broad.mit.edu 37 6 32974913 32974913 + Silent SNP G G A TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 125ccb76-bf8d-4ce7-a04c-4424d6da0322 41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a g.chr6:32974913G>A ENST00000229829.5 - 4 768 c.693C>T c.(691-693)ggC>ggT p.G231G HLA-DOA_ENST00000450833.2_Intron NM_002119.3 NP_002110.1 P06340 DOA_HUMAN major histocompatibility complex, class II, DO alpha 231 antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway|T cell costimulation|T cell receptor signaling pathway endosome membrane|integral to membrane|lysosomal membrane|MHC class II protein complex MHC class II receptor activity NS(1)|breast(1)|central_nervous_system(1)|large_intestine(2)|lung(3)|prostate(1) 9 CCACGAGGAAGCCCACCAGGC 0.627000 17 107 0 0 0.004007 0 0 HCN4 10021 broad.mit.edu 37 15 73614875 73614875 + Missense_Mutation SNP C C T TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 125ccb76-bf8d-4ce7-a04c-4424d6da0322 41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a g.chr15:73614875C>T ENST00000261917.3 - 8 4552 c.3559G>A c.(3559-3561)Gaa>Aaa p.E1187K NM_005477.2 NP_005468.1 Q9Y3Q4 HCN4_HUMAN hyperpolarization activated cyclic nucleotide-gated potassium channel 4 1187 blood circulation|muscle contraction integral to membrane cAMP binding|protein binding|sodium channel activity|voltage-gated potassium channel activity NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(13)|liver(1)|lung(18)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 55 COAD - Colon adenocarcinoma(1;0.142) GCCCCAGGTTCCCTCTGGGGT 0.582000 5 15 0 0 0.000602 0 0 TAF1L 138474 broad.mit.edu 37 9 32632974 32632974 + Silent SNP G G A rs146604611 byFrequency TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 125ccb76-bf8d-4ce7-a04c-4424d6da0322 41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a g.chr9:32632974G>A ENST00000242310.4 - 1 2693 c.2604C>T c.(2602-2604)tgC>tgT p.C868C NM_153809.2 NP_722516.1 Q8IZX4 TAF1L_HUMAN TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like 868 male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent transcription factor TFIID complex DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1) 159 LUSC - Lung squamous cell carcinoma(29;0.0181) GBM - Glioblastoma multiforme(74;0.00301) TGAAGTCAGCGCAGAGCTTTA 0.468000 20 154 0 0 0.008871 0 0 SEPT3 55964 broad.mit.edu 37 22 42390724 42390724 + Silent SNP C C T TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 125ccb76-bf8d-4ce7-a04c-4424d6da0322 41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a g.chr22:42390724C>T ENST00000396425.3 + 10 1148 c.1017C>T c.(1015-1017)agC>agT p.S339S SEPT3_ENST00000328414.8_Intron|SEPT3_ENST00000291236.11_Silent_p.S275S|SEPT3_ENST00000396426.3_Intron|SEPT3_ENST00000406029.1_Intron NM_019106.5 NP_061979.3 Q9UH03 SEPT3_HUMAN septin 3 0 cell cycle|cytokinesis cell junction|septin complex GTP binding breast(1)|kidney(3)|large_intestine(5)|lung(6)|prostate(1)|skin(1) 17 CTCCGGTGAGCGTGGACACAG 0.542000 11 66 0 0 0.008291 0 0 EPN1 29924 broad.mit.edu 37 19 56204351 56204351 + Missense_Mutation SNP C C A TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 125ccb76-bf8d-4ce7-a04c-4424d6da0322 41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a g.chr19:56204351C>A ENST00000411543.2 + 9 2017 c.1470C>A c.(1468-1470)ttC>ttA p.F490L EPN1_ENST00000085079.7_Missense_Mutation_p.F378L|EPN1_ENST00000270460.6_Missense_Mutation_p.F404L NM_001130071.1 NP_001123543.1 Q9Y6I3 EPN1_HUMAN epsin 1 404 Ala/Gly/Pro-rich. endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway coated pit|cytoplasm|nucleus|plasma membrane lipid binding endometrium(5)|kidney(1)|large_intestine(2)|lung(8)|skin(1) 17 Colorectal(82;0.00244)|Ovarian(87;0.133) GBM - Glioblastoma multiforme(193;0.112) CCGACGAGTTCTCTGACTTTG 0.701000 13 117 4.3838e-07 8.08198e-07 0.001855 1 0 RUSC1 23623 broad.mit.edu 37 1 155296505 155296505 + Missense_Mutation SNP G G C TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 125ccb76-bf8d-4ce7-a04c-4424d6da0322 41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a g.chr1:155296505G>C ENST00000368352.5 + 8 2147 c.1996G>C c.(1996-1998)Gag>Cag p.E666Q RUSC1_ENST00000292254.4_Missense_Mutation_p.E197Q|RUSC1_ENST00000368349.4_Missense_Mutation_p.E197Q|RUSC1_ENST00000368354.3_Intron|RUSC1_ENST00000368347.4_Missense_Mutation_p.E256Q|RUSC1_ENST00000462780.1_3'UTR NM_001105203.1 NP_001098673.1 Q9BVN2 RUSC1_HUMAN RUN and SH3 domain containing 1 666 RUN. cytoplasm|nucleolus SH3/SH2 adaptor activity breast(2)|endometrium(2)|kidney(2)|large_intestine(2)|liver(2)|lung(7)|ovary(2)|skin(1)|urinary_tract(1) 21 Hepatocellular(266;0.0877)|all_hematologic(923;0.145) Epithelial(20;1.55e-10)|all cancers(21;4.15e-10)|BRCA - Breast invasive adenocarcinoma(34;0.000549)|LUSC - Lung squamous cell carcinoma(543;0.127) CCTGCTCTTTGAGCACCACCA 0.642000 22 89 0 0 0.002780 0 0 HTR3C 170572 broad.mit.edu 37 3 183778119 183778119 + Silent SNP C C G TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 125ccb76-bf8d-4ce7-a04c-4424d6da0322 41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a g.chr3:183778119C>G ENST00000318351.1 + 9 1357 c.1323C>G c.(1321-1323)gtC>gtG p.V441V NM_130770.2 NP_570126.2 Q8WXA8 5HT3C_HUMAN 5-hydroxytryptamine (serotonin) receptor 3C, ionotropic 441 integral to membrane|plasma membrane|postsynaptic membrane extracellular ligand-gated ion channel activity|receptor activity central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(2) 32 all_cancers(143;2.33e-10)|Ovarian(172;0.0303) Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22) TCCTTACTGTCATTGTCCTCT 0.557000 24 183 0 0 0.003954 0 0 GCNT4 51301 broad.mit.edu 37 5 74325189 74325189 + Missense_Mutation SNP T T C TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 125ccb76-bf8d-4ce7-a04c-4424d6da0322 41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a g.chr5:74325189T>C ENST00000322348.4 - 1 1535 c.674A>G c.(673-675)aAc>aGc p.N225S NM_016591.2 NP_057675.1 Q9P109 GCNT4_HUMAN glucosaminyl (N-acetyl) transferase 4, core 2 225 protein O-linked glycosylation Golgi membrane|integral to membrane beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity|N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|ovary(2)|skin(1)|stomach(2) 19 all_lung(232;0.0131)|Lung NSC(167;0.0282)|Ovarian(174;0.0798) OV - Ovarian serous cystadenocarcinoma(47;8.44e-57) CCCACACAAGTTGATAACATA 0.418000 4 78 0 0 0.009096 0 0 KIAA1109 84162 broad.mit.edu 37 4 123230492 123230492 + Silent SNP A A G TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 125ccb76-bf8d-4ce7-a04c-4424d6da0322 41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a g.chr4:123230492A>G ENST00000264501.4 + 59 10498 c.10125A>G c.(10123-10125)gcA>gcG p.A3375A KIAA1109_ENST00000455637.1_Silent_p.A3375A|KIAA1109_ENST00000388738.3_Silent_p.A3375A Q2LD37 K1109_HUMAN KIAA1109 3375 regulation of cell growth|regulation of epithelial cell differentiation integral to membrane|nucleus breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3) 172 TCATCACTGCATGCTCTTCAG 0.378000 11 62 0 0 0.010729 0 0 MIR1283-1 100302265 broad.mit.edu 37 19 54191746 54191746 + RNA SNP A A G TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 125ccb76-bf8d-4ce7-a04c-4424d6da0322 41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a g.chr19:54191746A>G ENST00000408494.1 + 0 12 NR_031573.1 TCAAGCTATGAGTCTACAAAG 0.413000 3 110 0 0 0.004672 0 0 PDS5A 23244 broad.mit.edu 37 4 39910122 39910122 + Missense_Mutation SNP T T C TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 125ccb76-bf8d-4ce7-a04c-4424d6da0322 41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a g.chr4:39910122T>C ENST00000303538.8 - 11 1665 c.1126A>G c.(1126-1128)Att>Gtt p.I376V PDS5A_ENST00000503396.1_Missense_Mutation_p.I376V NM_001100399.1 NP_001093869.1 Q29RF7 PDS5A_HUMAN PDS5, regulator of cohesion maintenance, homolog A (S. cerevisiae) 376 cell division|mitosis|negative regulation of DNA replication chromatin|nucleus identical protein binding p.I376L(1) breast(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(9)|lung(14)|prostate(3)|skin(1)|urinary_tract(1) 39 TCATGACGAATAGCTTCTTCT 0.353000 16 100 0 0 0.003163 0 0 PKDREJ 10343 broad.mit.edu 37 22 46653935 46653935 + Missense_Mutation SNP C C T TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 125ccb76-bf8d-4ce7-a04c-4424d6da0322 41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a g.chr22:46653935C>T ENST00000253255.5 - 1 5284 c.5285G>A c.(5284-5286)aGa>aAa p.R1762K NM_006071.1 NP_006062.1 Q9NTG1 PKDRE_HUMAN polycystin (PKD) family receptor for egg jelly 1762 acrosome reaction|neuropeptide signaling pathway integral to membrane calcium ion binding|ion channel activity NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2) 73 Ovarian(80;0.00965)|all_neural(38;0.0416) UCEC - Uterine corpus endometrioid carcinoma (28;0.00459) GTTTAGCCATCTATAGATGTC 0.423000 17 115 0 0 0.004990 0 0 PKDREJ 10343 broad.mit.edu 37 22 46654251 46654251 + Missense_Mutation SNP C C T TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 125ccb76-bf8d-4ce7-a04c-4424d6da0322 41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a g.chr22:46654251C>T ENST00000253255.5 - 1 4968 c.4969G>A c.(4969-4971)Gag>Aag p.E1657K NM_006071.1 NP_006062.1 Q9NTG1 PKDRE_HUMAN polycystin (PKD) family receptor for egg jelly 1657 acrosome reaction|neuropeptide signaling pathway integral to membrane calcium ion binding|ion channel activity NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2) 73 Ovarian(80;0.00965)|all_neural(38;0.0416) UCEC - Uterine corpus endometrioid carcinoma (28;0.00459) AACCTGATCTCAGTATATTTA 0.438000 10 80 0 0 0.008291 0 0 ALOX12B 242 broad.mit.edu 37 17 7984278 7984278 + Missense_Mutation SNP G G A TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 125ccb76-bf8d-4ce7-a04c-4424d6da0322 41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a g.chr17:7984278G>A ENST00000319144.4 - 4 711 c.451C>T c.(451-453)Cct>Tct p.P151S AC129492.6_ENST00000399413.3_3'UTR NM_001139.2 NP_001130.1 O75342 LX12B_HUMAN arachidonate 12-lipoxygenase, 12R type 151 Lipoxygenase. epidermis development|leukotriene biosynthetic process arachidonate 12-lipoxygenase activity|iron ion binding|lipoxygenase activity endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|stomach(1) 16 GGCAGGCCAGGAAGAAAGACT 0.642000 Multiple Myeloma(8;0.094) 6 66 0 0 0.003080 0 0 USP6 9098 broad.mit.edu 37 17 5048731 5048731 + Missense_Mutation SNP C C T TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 125ccb76-bf8d-4ce7-a04c-4424d6da0322 41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a g.chr17:5048731C>T ENST00000574788.1 + 27 4254 c.2024C>T c.(2023-2025)tCa>tTa p.S675L USP6_ENST00000250066.6_Missense_Mutation_p.S675L|USP6_ENST00000332776.4_Missense_Mutation_p.S675L|USP6_ENST00000304328.5_Missense_Mutation_p.S358L P35125 UBP6_HUMAN ubiquitin specific peptidase 6 (Tre-2 oncogene) 675 protein deubiquitination|regulation of vesicle-mediated transport|ubiquitin-dependent protein catabolic process lysosome|plasma membrane|recycling endosome calmodulin binding|cysteine-type endopeptidase activity|nucleic acid binding|protein binding|Rab GTPase activator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 34 AGAAATAGATCAATTATTGTG 0.358000 T """COL1A1, CDH11, ZNF9, OMD""" aneurysmal bone cysts 9 62 0 0 0.008291 0 0 SCN1A 6323 broad.mit.edu 37 2 166854606 166854606 + Missense_Mutation SNP A A G TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 125ccb76-bf8d-4ce7-a04c-4424d6da0322 41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a g.chr2:166854606A>G ENST00000423058.2 - 23 4435 c.4418T>C c.(4417-4419)tTc>tCc p.F1473S AC010127.3_ENST00000595647.1_RNA|SCN1A_ENST00000409050.1_Missense_Mutation_p.F1445S|SCN1A_ENST00000303395.4_Missense_Mutation_p.F1473S|SCN1A_ENST00000375405.3_Missense_Mutation_p.F1462S|AC010127.3_ENST00000597623.1_RNA NM_001165963.1|NM_001202435.1 NP_001159435.1|NP_001189364.1 P35498 SCN1A_HUMAN sodium channel, voltage-gated, type I, alpha subunit 1473 voltage-gated sodium channel complex voltage-gated sodium channel activity NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1) 200 Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909) GTTCAAGGTGAAGAAGGACCC 0.343000 4 39 0 0 0.009096 0 0 CCDC47 57003 broad.mit.edu 37 17 61838631 61838631 + Missense_Mutation SNP A A C TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 125ccb76-bf8d-4ce7-a04c-4424d6da0322 41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a g.chr17:61838631A>C ENST00000225726.5 - 5 1010 c.628T>G c.(628-630)Tct>Gct p.S210A CCDC47_ENST00000582252.1_Missense_Mutation_p.S210A|CCDC47_ENST00000403162.3_Missense_Mutation_p.S210A NM_020198.2 NP_064583.2 Q96A33 CCD47_HUMAN coiled-coil domain containing 47 210 integral to membrane protein binding endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)|skin(2)|urinary_tract(1) 18 ACTCGACCAGAACACCACAGG 0.433000 17 96 0 0 0.004990 0 0 ABL2 27 broad.mit.edu 37 1 179077353 179077353 + Missense_Mutation SNP C C G TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 125ccb76-bf8d-4ce7-a04c-4424d6da0322 41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a g.chr1:179077353C>G ENST00000502732.1 - 12 3252 c.3049G>C c.(3049-3051)Gaa>Caa p.E1017Q ABL2_ENST00000512653.1_Missense_Mutation_p.E1002Q|ABL2_ENST00000511413.1_Missense_Mutation_p.E914Q|ABL2_ENST00000344730.3_Missense_Mutation_p.E899Q|ABL2_ENST00000367623.4_Missense_Mutation_p.E996Q|ABL2_ENST00000507173.1_Missense_Mutation_p.E893Q|ABL2_ENST00000504405.1_Missense_Mutation_p.E878Q|ABL2_ENST00000408940.3_Missense_Mutation_p.E981Q NM_001168236.1|NM_001168237.1|NM_001168238.1|NM_007314.3 NP_001161708.1|NP_001161709.1|NP_001161710.1|NP_009298.1 P42684 ABL2_HUMAN c-abl oncogene 2, non-receptor tyrosine kinase 1017 Pro-rich. axon guidance|cell adhesion|peptidyl-tyrosine phosphorylation|positive regulation of oxidoreductase activity|signal transduction cytoskeleton|cytosol ATP binding|magnesium ion binding|manganese ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding breast(8)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 65 Adenosine triphosphate(DB00171)|Dasatinib(DB01254) TCCTGTGTTTCTGATGTGGAC 0.587000 T ETV6 AML 19 119 0 0 0.008871 0 0 CCT2 10576 broad.mit.edu 37 12 69987352 69987352 + Missense_Mutation SNP A A T TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 125ccb76-bf8d-4ce7-a04c-4424d6da0322 41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a g.chr12:69987352A>T ENST00000543146.2 + 10 1282 c.800A>T c.(799-801)cAt>cTt p.H267L CCT2_ENST00000544368.2_Missense_Mutation_p.H314L|CCT2_ENST00000299300.6_Missense_Mutation_p.H314L NM_001198842.1 NP_001185771.1 P78371 TCPB_HUMAN chaperonin containing TCP1, subunit 2 (beta) 314 'de novo' posttranslational protein folding nucleus ATP binding|unfolded protein binding central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(2)|skin(2)|stomach(1) 24 all_cancers(2;7.7e-106)|Breast(13;2.15e-06)|Esophageal squamous(21;0.187) Epithelial(6;2.72e-18)|GBM - Glioblastoma multiforme(2;2.58e-10)|Lung(24;0.000185)|OV - Ovarian serous cystadenocarcinoma(12;0.00126)|STAD - Stomach adenocarcinoma(21;0.00501)|Kidney(9;0.143)|LUSC - Lung squamous cell carcinoma(43;0.24) GCTATTGAGCATGCAGATTTT 0.358000 9 45 0 0 0.008291 0 0 RP11-146E13.4 0 broad.mit.edu 37 14 19857036 19857036 + RNA SNP A A G TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 125ccb76-bf8d-4ce7-a04c-4424d6da0322 41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a g.chr14:19857036A>G ENST00000548109.1 + 0 72 CTGGATAATAAAGTTCATCTC 0.373000 5 118 0 0 0.000602 0 0 GATAD2A 54815 broad.mit.edu 37 19 19603492 19603492 + Missense_Mutation SNP C C G TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 125ccb76-bf8d-4ce7-a04c-4424d6da0322 41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a g.chr19:19603492C>G ENST00000404158.1 + 6 923 c.505C>G c.(505-507)Caa>Gaa p.Q169E GATAD2A_ENST00000252577.5_Missense_Mutation_p.Q169E|GATAD2A_ENST00000429563.2_Missense_Mutation_p.Q26E|GATAD2A_ENST00000358713.3_Missense_Mutation_p.Q169E|GATAD2A_ENST00000537887.1_Intron|GATAD2A_ENST00000494516.1_Intron|GATAD2A_ENST00000360315.3_Missense_Mutation_p.Q169E Q86YP4 P66A_HUMAN GATA zinc finger domain containing 2A 169 DNA methylation|negative regulation of transcription, DNA-dependent nuclear speck|NuRD complex protein binding, bridging|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|urinary_tract(1) 13 GCGGCAGAGTCAAATACAAAA 0.517000 5 54 0 0 0.000602 0 0 BPIFB2 80341 broad.mit.edu 37 20 31608358 31608358 + Missense_Mutation SNP C C A TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 125ccb76-bf8d-4ce7-a04c-4424d6da0322 41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a g.chr20:31608358C>A ENST00000170150.3 + 13 1354 c.1159C>A c.(1159-1161)Ctc>Atc p.L387I NM_025227.1 NP_079503.1 Q8N4F0 BPIL1_HUMAN BPI fold containing family B, member 2 387 extracellular region lipid binding GGATGTCCAGCTCACGGTGGC 0.617000 9 93 0.000673444 0.00119621 0.008291 1 0 NBPF3 84224 broad.mit.edu 37 1 21800026 21800026 + Silent SNP C C T rs138236134 TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 125ccb76-bf8d-4ce7-a04c-4424d6da0322 41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a g.chr1:21800026C>T ENST00000318220.6 + 10 1768 c.720C>T c.(718-720)ctC>ctT p.L240L NBPF3_ENST00000318249.5_Silent_p.L296L|NBPF3_ENST00000454000.2_Silent_p.L226L|NBPF3_ENST00000342104.5_Silent_p.L296L Q9H094 NBPF3_HUMAN neuroblastoma breakpoint family, member 3 296 NBPF 1. cytoplasm breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(2) 20 all_lung(284;2.16e-05)|Lung NSC(340;2.19e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00432)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|OV - Ovarian serous cystadenocarcinoma(117;7.53e-27)|COAD - Colon adenocarcinoma(152;1.18e-05)|GBM - Glioblastoma multiforme(114;3.47e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000143)|STAD - Stomach adenocarcinoma(196;0.00306)|KIRC - Kidney renal clear cell carcinoma(1967;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199) ACTCAACTCTCATTGACTCAT 0.463000 31 222 0 0 0.009535 0 0 TP53 7157 broad.mit.edu 37 17 7578442 7578442 + Missense_Mutation SNP T T C rs148924904 TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 125ccb76-bf8d-4ce7-a04c-4424d6da0322 41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a g.chr17:7578442T>C ENST00000420246.2 - 5 620 c.488A>G c.(487-489)tAc>tGc p.Y163C TP53_ENST00000413465.2_Missense_Mutation_p.Y163C|TP53_ENST00000359597.4_Missense_Mutation_p.Y163C|TP53_ENST00000445888.2_Missense_Mutation_p.Y163C|TP53_ENST00000455263.2_Missense_Mutation_p.Y163C|TP53_ENST00000269305.4_Missense_Mutation_p.Y163C NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 163 Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42. Y -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|Y -> D (in sporadic cancers; somatic mutation).|Y -> F (in a sporadic cancer; somatic mutation).|Y -> H (in sporadic cancers; somatic mutation).|Y -> N (in sporadic cancers; somatic mutation).|Y -> S (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.Y163C(134)|p.Y70C(12)|p.Y31C(12)|p.0?(8)|p.Y163S(7)|p.V157_C176del20(1)|p.Y31S(1)|p.Y163fs*1(1)|p.Y70S(1)|p.Y163_Q165delYKQ(1)|p.P151_V173del23(1)|p.Y163fs*14(1)|p.S149fs*72(1)|p.A159_Q167delAMAIYKQSQ(1)|p.I162_Y163delIY(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) TGACTGCTTGTAGATGGCCAT 0.622000 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) 16 50 0 0 0.004990 0 0 HUWE1 10075 broad.mit.edu 37 X 53619384 53619384 + Missense_Mutation SNP G G C TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 125ccb76-bf8d-4ce7-a04c-4424d6da0322 41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a g.chrX:53619384G>C ENST00000342160.3 - 32 4403 c.3946C>G c.(3946-3948)Caa>Gaa p.Q1316E HUWE1_ENST00000262854.6_Missense_Mutation_p.Q1316E|HUWE1_ENST00000218328.8_Missense_Mutation_p.Q1316E Q7Z6Z7 HUWE1_HUMAN HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase 1316 UBA. base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasm|nucleus DNA binding|protein binding|ubiquitin-protein ligase activity NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2) 153 TGGTTGACTTGAGGTTCCCGG 0.537000 18 52 0 0 0.010504 0 0 MAST1 22983 broad.mit.edu 37 19 12951862 12951862 + Missense_Mutation SNP C C G TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 125ccb76-bf8d-4ce7-a04c-4424d6da0322 41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a g.chr19:12951862C>G ENST00000251472.4 + 3 269 c.230C>G c.(229-231)tCg>tGg p.S77W MAST1_ENST00000591495.1_Missense_Mutation_p.S73W NM_014975.2 NP_055790.1 Q9Y2H9 MAST1_HUMAN microtubule associated serine/threonine kinase 1 77 cytoskeleton organization|intracellular protein kinase cascade cytoplasm|cytoskeleton|plasma membrane ATP binding|magnesium ion binding|protein serine/threonine kinase activity NS(1)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(20)|ovary(5)|prostate(5)|skin(3) 56 GCCCACTTCTCGTTTGCCTCC 0.632000 17 77 0 0 0.006122 0 0 TMEM177 80775 broad.mit.edu 37 2 120439337 120439337 + Missense_Mutation SNP G G C TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 125ccb76-bf8d-4ce7-a04c-4424d6da0322 41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a g.chr2:120439337G>C ENST00000424086.1 + 2 1381 c.908G>C c.(907-909)aGg>aCg p.R303T TMEM177_ENST00000401466.1_Missense_Mutation_p.R303T|TMEM177_ENST00000409951.1_Intron|TMEM177_ENST00000272521.6_Missense_Mutation_p.R303T|TMEM177_ENST00000496203.1_Intron NM_001105198.1 NP_001098668.1 Q53S58 TM177_HUMAN transmembrane protein 177 303 integral to membrane breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|upper_aerodigestive_tract(1) 13 Colorectal(110;0.196) CAGATGTGGAGGGGGATGCTC 0.577000 9 80 0 0 0.008291 0 0 CCDC132 55610 broad.mit.edu 37 7 92987685 92987685 + Missense_Mutation SNP C C G TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 125ccb76-bf8d-4ce7-a04c-4424d6da0322 41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a g.chr7:92987685C>G ENST00000544910.1 + 29 2962 c.2742C>G c.(2740-2742)atC>atG p.I914M CCDC132_ENST00000305866.5_Missense_Mutation_p.I944M|CCDC132_ENST00000535481.1_Missense_Mutation_p.I664M|CCDC132_ENST00000541136.1_3'UTR NM_001257998.1 NP_001244927.1 Q96JG6 CC132_HUMAN coiled-coil domain containing 132 944 endometrium(1)|large_intestine(2)|lung(5) 8 all_cancers(62;2.64e-11)|all_epithelial(64;1.4e-10)|Breast(17;0.000675)|Lung NSC(181;0.0618)|all_lung(186;0.0837) STAD - Stomach adenocarcinoma(171;0.000302) GATCCCATATCAATAAGAAAG 0.383000 12 77 0 0 0.010729 0 0 PKDREJ 10343 broad.mit.edu 37 22 46653078 46653078 + Missense_Mutation SNP G G C TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 125ccb76-bf8d-4ce7-a04c-4424d6da0322 41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a g.chr22:46653078G>C ENST00000253255.5 - 1 6141 c.6142C>G c.(6142-6144)Cac>Gac p.H2048D NM_006071.1 NP_006062.1 Q9NTG1 PKDRE_HUMAN polycystin (PKD) family receptor for egg jelly 2048 acrosome reaction|neuropeptide signaling pathway integral to membrane calcium ion binding|ion channel activity NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2) 73 Ovarian(80;0.00965)|all_neural(38;0.0416) UCEC - Uterine corpus endometrioid carcinoma (28;0.00459) CTCATAATGTGATCTACCTGA 0.438000 6 59 0 0 0.003080 0 0 CEP152 22995 broad.mit.edu 37 15 49054667 49054667 + Missense_Mutation SNP T T C TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 125ccb76-bf8d-4ce7-a04c-4424d6da0322 41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a g.chr15:49054667T>C ENST00000380950.2 - 18 2670 c.2483A>G c.(2482-2484)aAg>aGg p.K828R CEP152_ENST00000399334.3_Missense_Mutation_p.K828R|CEP152_ENST00000325747.5_Missense_Mutation_p.K735R NM_001194998.1|NM_014985.3 NP_001181927.1|NP_055800.2 O94986 CE152_HUMAN centrosomal protein 152kDa 828 centrosome duplication|G2/M transition of mitotic cell cycle centrosome|cytosol protein kinase binding breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(16)|lung(30)|ovary(1)|prostate(2)|skin(2) 63 all_lung(180;0.0428) all cancers(107;1.08e-07)|GBM - Glioblastoma multiforme(94;2.32e-06) GGCTATGTCCTTCTCTTGTTC 0.373000 40 70 0 0 0.006999 0 0 PKDREJ 10343 broad.mit.edu 37 22 46652485 46652485 + Silent SNP C C T TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 125ccb76-bf8d-4ce7-a04c-4424d6da0322 41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a g.chr22:46652485C>T ENST00000253255.5 - 1 6734 c.6735G>A c.(6733-6735)ggG>ggA p.G2245G NM_006071.1 NP_006062.1 Q9NTG1 PKDRE_HUMAN polycystin (PKD) family receptor for egg jelly 2245 acrosome reaction|neuropeptide signaling pathway integral to membrane calcium ion binding|ion channel activity NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2) 73 Ovarian(80;0.00965)|all_neural(38;0.0416) UCEC - Uterine corpus endometrioid carcinoma (28;0.00459) CCATTTTCTTCCCGTTGATGT 0.473000 10 94 0 0 0.010729 0 0 MYH1 4619 broad.mit.edu 37 17 10408257 10408257 + Missense_Mutation SNP G G T TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 125ccb76-bf8d-4ce7-a04c-4424d6da0322 41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a g.chr17:10408257G>T ENST00000226207.5 - 22 2655 c.2561C>A c.(2560-2562)gCc>gAc p.A854D CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000581304.1_RNA NM_005963.3 NP_005954.3 P12882 MYH1_HUMAN myosin, heavy chain 1, skeletal muscle, adult 854 muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|motor activity NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5) 176 CTTCATGTTGGCCATCTCCTT 0.443000 18 98 0.000175454 0.00031598 0.010504 1 0 CTAGE1 64693 broad.mit.edu 37 18 19995815 19995815 + Missense_Mutation SNP C C T TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 125ccb76-bf8d-4ce7-a04c-4424d6da0322 41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a g.chr18:19995815C>T ENST00000391403.2 - 1 2063 c.1960G>A c.(1960-1962)Gaa>Aaa p.E654K NM_172241.2 NP_758441.2 Q96RT6 CTGE2_HUMAN cutaneous T-cell lymphoma-associated antigen 1 654 integral to membrane cervix(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(19)|ovary(1) 27 all_cancers(21;0.000361)|all_epithelial(16;9.61e-06)|Colorectal(14;0.0533)|Lung NSC(20;0.0605)|Ovarian(2;0.116)|all_lung(20;0.135) CCAGTTGCTTCATTTTCAGCG 0.453000 24 244 0 0 0.003954 0 0 PKDREJ 10343 broad.mit.edu 37 22 46654120 46654120 + Silent SNP C C T TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 125ccb76-bf8d-4ce7-a04c-4424d6da0322 41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a g.chr22:46654120C>T ENST00000253255.5 - 1 5099 c.5100G>A c.(5098-5100)aaG>aaA p.K1700K NM_006071.1 NP_006062.1 Q9NTG1 PKDRE_HUMAN polycystin (PKD) family receptor for egg jelly 1700 acrosome reaction|neuropeptide signaling pathway integral to membrane calcium ion binding|ion channel activity NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2) 73 Ovarian(80;0.00965)|all_neural(38;0.0416) UCEC - Uterine corpus endometrioid carcinoma (28;0.00459) TGATCCTCTTCTTTCTTTTGA 0.418000 7 82 0 0 0.003080 0 0 RAG1 5896 broad.mit.edu 37 11 36597850 36597850 + Missense_Mutation SNP C C G TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 125ccb76-bf8d-4ce7-a04c-4424d6da0322 41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a g.chr11:36597850C>G ENST00000299440.5 + 2 3108 c.2996C>G c.(2995-2997)tCc>tGc p.S999C NM_000448.2 NP_000439.1 P15918 RAG1_HUMAN recombination activating gene 1 999 histone monoubiquitination|immune response|pre-B cell allelic exclusion|protein autoubiquitination|T cell differentiation in thymus|V(D)J recombination nucleus endonuclease activity|histone binding|protein homodimerization activity|sequence-specific DNA binding|ubiquitin-protein ligase activity|zinc ion binding NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1) 65 all_lung(20;0.226) all_hematologic(20;0.107) TTGTACACCTCCAAATACCTC 0.448000 Familial Hemophagocytic Lymphohistiocytosis 14 73 0 0 0.003163 0 0 GPR98 84059 broad.mit.edu 37 5 90136535 90136535 + Missense_Mutation SNP G G C TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 125ccb76-bf8d-4ce7-a04c-4424d6da0322 41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a g.chr5:90136535G>C ENST00000405460.2 + 78 16848 c.16752G>C c.(16750-16752)gaG>gaC p.E5584D GPR98_ENST00000425867.2_Missense_Mutation_p.E1245D NM_032119.3 NP_115495.3 Q8WXG9 GPR98_HUMAN G protein-coupled receptor 98 5584 cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance cell surface|cytoplasm|integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6) 269 all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192) OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20) TAACGCCAGAGACAGGATCTT 0.428000 28 190 0 0 0.008361 0 0 NAALADL1 10004 broad.mit.edu 37 11 64813736 64813736 + Missense_Mutation SNP C C T TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 125ccb76-bf8d-4ce7-a04c-4424d6da0322 41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a g.chr11:64813736C>T ENST00000358658.3 - 15 1807 c.1780G>A c.(1780-1782)Gag>Aag p.E594K NAALADL1_ENST00000340252.4_Missense_Mutation_p.E645K|NAALADL1_ENST00000528884.1_5'UTR|NAALADL1_ENST00000355369.2_3'UTR|NAALADL1_ENST00000356632.3_Missense_Mutation_p.E559K|NAALADL1_ENST00000355721.3_Missense_Mutation_p.E553K|NAALADL1_ENST00000526799.1_5'UTR|NAALADL1_ENST00000339885.2_3'UTR NM_005468.2 NP_005459.2 Q9UQQ1 NALDL_HUMAN N-acetylated alpha-linked acidic dipeptidase-like 1 594 proteolysis apical plasma membrane|integral to membrane carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2) 29 CGGAGTGTCTCACTGTAGTCA 0.612000 12 50 0 0 0.013537 0 0 PIGB 9488 broad.mit.edu 37 15 55622047 55622047 + Missense_Mutation SNP G G A TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 125ccb76-bf8d-4ce7-a04c-4424d6da0322 41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a g.chr15:55622047G>A ENST00000164305.5 + 5 939 c.648G>A c.(646-648)atG>atA p.M216I PIGB_ENST00000539642.1_Missense_Mutation_p.M21I NM_004855.4 NP_004846.4 Q92521 PIGB_HUMAN phosphatidylinositol glycan anchor biosynthesis, class B 216 C-terminal protein lipidation|preassembly of GPI anchor in ER membrane integral to membrane|intrinsic to endoplasmic reticulum membrane glycolipid mannosyltransferase activity endometrium(3)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1) 11 all cancers(107;0.0255) CAAAGTCTATGAACAGGTAAG 0.308000 23 53 0 0 0.012319 0 0 RAC3 5881 broad.mit.edu 37 17 79991361 79991361 + Silent SNP C C T TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 125ccb76-bf8d-4ce7-a04c-4424d6da0322 41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a g.chr17:79991361C>T ENST00000306897.4 + 5 472 c.334C>T c.(334-336)Ctg>Ttg p.L112L NM_005052.2 NP_005043.1 P60763 RAC3_HUMAN ras-related C3 botulinum toxin substrate 3 (rho family, small GTP binding protein Rac3) 112 actin cytoskeleton organization|cell projection assembly|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|endomembrane system|filamentous actin|growth cone|lamellipodium|neuronal cell body|plasma membrane GTP binding|GTPase activity|protein binding NS(1)|kidney(1)|skin(1) 3 all_neural(118;0.0878)|Ovarian(332;0.12)|all_lung(278;0.246) BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0191) GCCCATCCTCCTGGTGGGCAC 0.672000 4 47 0 0 0.001168 0 0 ZAN 7455 broad.mit.edu 37 7 100345255 100345255 + RNA SNP A A G TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 125ccb76-bf8d-4ce7-a04c-4424d6da0322 41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a g.chr7:100345255A>G ENST00000542585.1 + 0 1162 ZAN_ENST00000427578.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000546292.1_RNA NM_003386.1 NP_003377.1 Q9Y493 ZAN_HUMAN zonadhesin (gene/pseudogene) binding of sperm to zona pellucida|cell-cell adhesion integral to membrane|plasma membrane NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3) 139 Lung NSC(181;0.041)|all_lung(186;0.0581) STAD - Stomach adenocarcinoma(171;0.19) CAGCCGTGGGACGGATACAGG 0.527000 3 58 0 0 0.009096 0 0 KBTBD12 166348 broad.mit.edu 37 3 127646718 127646718 + Missense_Mutation SNP G G A TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 125ccb76-bf8d-4ce7-a04c-4424d6da0322 41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a g.chr3:127646718G>A ENST00000405109.1 + 3 1649 c.1182G>A c.(1180-1182)atG>atA p.M394I KBTBD12_ENST00000405256.1_Missense_Mutation_p.M394I|KBTBD12_ENST00000492025.1_Intron|KBTBD12_ENST00000407609.3_Start_Codon_SNP_p.M1I|KBTBD12_ENST00000343941.4_Intron Q3ZCT8 KBTBC_HUMAN kelch repeat and BTB (POZ) domain containing 12 394 endometrium(1)|large_intestine(6)|lung(5)|ovary(1) 13 GAGGACAGATGAAAATTAAAA 0.393000 20 146 0 0 0.010504 0 0 TTC30A 92104 broad.mit.edu 37 2 178481760 178481760 + Missense_Mutation SNP T T C TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 125ccb76-bf8d-4ce7-a04c-4424d6da0322 41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a g.chr2:178481760T>C ENST00000355689.4 - 1 1934 c.1670A>G c.(1669-1671)aAa>aGa p.K557R AC073834.3_ENST00000357045.4_RNA NM_152275.3 NP_689488.3 Q86WT1 TT30A_HUMAN tetratricopeptide repeat domain 30A 557 cell projection organization cilium binding autonomic_ganglia(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 30 OV - Ovarian serous cystadenocarcinoma(117;0.000423)|Epithelial(96;0.00373)|all cancers(119;0.0169) ATAGTTTCCTTTGGCACAATA 0.383000 4 242 0 0 0.009096 0 0 ZNF783 100289678 broad.mit.edu 37 7 148978631 148978631 + Missense_Mutation SNP G G A TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 125ccb76-bf8d-4ce7-a04c-4424d6da0322 41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a g.chr7:148978631G>A ENST00000434415.1 + 6 1001 c.838G>A c.(838-840)Gaa>Aaa p.E280K ZNF783_ENST00000489518.1_Intron NM_001195220.1 NP_001182149.1 C9J9J2 C9J9J2_HUMAN zinc finger family member 783 280 regulation of transcription, DNA-dependent intracellular nucleic acid binding|zinc ion binding cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|prostate(1) 22 Melanoma(164;0.15) OV - Ovarian serous cystadenocarcinoma(82;0.0014) GGCACAGTCTGAAGACGAGAT 0.627000 10 56 0 0 0.010729 0 0 ZNF33B 7582 broad.mit.edu 37 10 43089160 43089160 + Missense_Mutation SNP T T C TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 125ccb76-bf8d-4ce7-a04c-4424d6da0322 41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a g.chr10:43089160T>C ENST00000359467.3 - 5 1352 c.1238A>G c.(1237-1239)tAt>tGt p.Y413C ZNF33B_ENST00000486187.1_RNA NM_006955.1 NP_008886.1 Q06732 ZN33B_HUMAN zinc finger protein 33B 413 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(15)|skin(1)|stomach(1) 29 ATTACACTGATAGGGTTTCTC 0.423000 3 105 0 0 0.004672 0 0 PKDREJ 10343 broad.mit.edu 37 22 46654948 46654948 + Missense_Mutation SNP C C T TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 125ccb76-bf8d-4ce7-a04c-4424d6da0322 41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a g.chr22:46654948C>T ENST00000253255.5 - 1 4271 c.4272G>A c.(4270-4272)atG>atA p.M1424I NM_006071.1 NP_006062.1 Q9NTG1 PKDRE_HUMAN polycystin (PKD) family receptor for egg jelly 1424 acrosome reaction|neuropeptide signaling pathway integral to membrane calcium ion binding|ion channel activity NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2) 73 Ovarian(80;0.00965)|all_neural(38;0.0416) UCEC - Uterine corpus endometrioid carcinoma (28;0.00459) TCATTGATCTCATGTATTTCC 0.348000 8 60 0 0 0.003080 0 0 PIK3R4 30849 broad.mit.edu 37 3 130463505 130463505 + Missense_Mutation SNP G G C TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 125ccb76-bf8d-4ce7-a04c-4424d6da0322 41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a g.chr3:130463505G>C ENST00000356763.3 - 2 1115 c.558C>G c.(556-558)ttC>ttG p.F186L NM_014602.2 NP_055417.1 Q99570 PI3R4_HUMAN phosphoinositide-3-kinase, regulatory subunit 4 186 Protein kinase. fibroblast growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway cytosol ATP binding|protein binding|protein serine/threonine kinase activity NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(6)|large_intestine(16)|lung(28)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1) 77 ATGTGTCAAAGAAATAATTGA 0.408000 11 48 0 0 0.008291 0 0 CYP4F11 57834 broad.mit.edu 37 19 16025612 16025612 + Silent SNP C C T TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 125ccb76-bf8d-4ce7-a04c-4424d6da0322 41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a g.chr19:16025612C>T ENST00000326742.7 - 9 1210 c.1209G>A c.(1207-1209)acG>acA p.T403T CYP4F11_ENST00000248041.7_Silent_p.T403T|CYP4F11_ENST00000402119.3_Silent_p.T403T Q9HBI6 CP4FB_HUMAN cytochrome P450, family 4, subfamily F, polypeptide 11 403 inflammatory response|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome aromatase activity|electron carrier activity|heme binding NS(1)|breast(3)|endometrium(4)|large_intestine(2)|lung(11)|ovary(1)|skin(3) 25 CAAAGTCCTGCGTGCAACATC 0.632000 19 106 0 0 0.007413 0 0 TTN 7273 broad.mit.edu 37 2 179440094 179440094 + Missense_Mutation SNP C C G TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 125ccb76-bf8d-4ce7-a04c-4424d6da0322 41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a g.chr2:179440094C>G ENST00000589042.1 - 326 70989 c.70765G>C c.(70765-70767)Gaa>Caa p.E23589Q TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.E14649Q|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.E14524Q|TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E21021Q|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.E14716Q|TTN_ENST00000591111.1_Missense_Mutation_p.E21948Q|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586707.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 21948 Fibronectin type-III 71. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) ACAACACATTCTAACCCTTTC 0.507000 11 67 0 0 0.010729 0 0 ELN 2006 broad.mit.edu 37 7 73466086 73466086 + Missense_Mutation SNP G G C TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 125ccb76-bf8d-4ce7-a04c-4424d6da0322 41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a g.chr7:73466086G>C ENST00000252034.7 + 16 1205 c.806G>C c.(805-807)gGa>gCa p.G269A ELN_ENST00000380562.4_Missense_Mutation_p.G269A|ELN_ENST00000445912.1_Missense_Mutation_p.G269A|ELN_ENST00000414324.1_Missense_Mutation_p.G264A|ELN_ENST00000358929.4_Missense_Mutation_p.G269A|ELN_ENST00000458204.1_Missense_Mutation_p.G259A|ELN_ENST00000320492.7_Missense_Mutation_p.G233A|ELN_ENST00000357036.5_Missense_Mutation_p.G274A|ELN_ENST00000380575.4_Missense_Mutation_p.G259A|ELN_ENST00000380553.4_Missense_Mutation_p.G152A|ELN_ENST00000320399.6_Missense_Mutation_p.G269A|ELN_ENST00000380576.5_Missense_Mutation_p.G269A|ELN_ENST00000429192.1_Missense_Mutation_p.G274A|ELN_ENST00000380584.4_Missense_Mutation_p.G255A NM_000501.2 NP_000492.2 P15502 ELN_HUMAN elastin 269 Ala-rich. blood circulation|cell proliferation|organ morphogenesis|respiratory gaseous exchange proteinaceous extracellular matrix extracellular matrix constituent conferring elasticity|protein binding breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(4)|pancreas(2)|prostate(1)|skin(2)|stomach(1) 32 Lung NSC(55;0.159) Rofecoxib(DB00533) ACAGGTGCTGGAGCAGCCGGA 0.597000 T PAX5 B-ALL """Supravalvular Aortic Stenosis, Cutis laxa , Williams-Beuren Syndrome""" OREG0018112 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 4 34 0 0 0.000602 0 0 PKDREJ 10343 broad.mit.edu 37 22 46654926 46654926 + Missense_Mutation SNP C C T TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 125ccb76-bf8d-4ce7-a04c-4424d6da0322 41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a g.chr22:46654926C>T ENST00000253255.5 - 1 4293 c.4294G>A c.(4294-4296)Gaa>Aaa p.E1432K NM_006071.1 NP_006062.1 Q9NTG1 PKDRE_HUMAN polycystin (PKD) family receptor for egg jelly 1432 acrosome reaction|neuropeptide signaling pathway integral to membrane calcium ion binding|ion channel activity p.E1432*(1) NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2) 73 Ovarian(80;0.00965)|all_neural(38;0.0416) UCEC - Uterine corpus endometrioid carcinoma (28;0.00459) AAGACACTTTCAATTCCTATC 0.348000 8 61 0 0 0.003080 0 0 ATP6V0A4 50617 broad.mit.edu 37 7 138429966 138429966 + Missense_Mutation SNP G G C TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 125ccb76-bf8d-4ce7-a04c-4424d6da0322 41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a g.chr7:138429966G>C ENST00000310018.2 - 14 1662 c.1380C>G c.(1378-1380)atC>atG p.I460M ATP6V0A4_ENST00000353492.4_Missense_Mutation_p.I460M|ATP6V0A4_ENST00000393054.1_Missense_Mutation_p.I460M NM_020632.2|NM_130840.2 NP_065683.2|NP_570855.2 Q9HBG4 VPP4_HUMAN ATPase, H+ transporting, lysosomal V0 subunit a4 460 cellular iron ion homeostasis|excretion|insulin receptor signaling pathway|ossification|regulation of pH|sensory perception of sound|transferrin transport apical plasma membrane|brush border membrane|endosome membrane|integral to membrane|proton-transporting two-sector ATPase complex, proton-transporting domain ATPase binding|hydrogen ion transmembrane transporter activity NS(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 36 AACCCGTGTAGATGGAGAAGA 0.488000 9 88 0 0 0.004482 0 0 CTSS 1520 broad.mit.edu 37 1 150722557 150722557 + Missense_Mutation SNP C C T TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 125ccb76-bf8d-4ce7-a04c-4424d6da0322 41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a g.chr1:150722557C>T ENST00000368985.3 - 6 978 c.718G>A c.(718-720)Gaa>Aaa p.E240K CTSS_ENST00000448301.2_Missense_Mutation_p.E190K|CTSS_ENST00000480760.1_Intron NM_001199739.1|NM_004079.4 NP_001186668.1|NP_004070.3 P25774 CATS_HUMAN cathepsin S 240 immune response|proteolysis extracellular region|lysosome cysteine-type endopeptidase activity cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|skin(1)|stomach(1)|urinary_tract(1) 15 all_cancers(9;6.17e-52)|all_epithelial(9;9.7e-43)|all_lung(15;5.74e-35)|Lung NSC(24;2.09e-31)|Breast(34;0.00146)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171) UCEC - Uterine corpus endometrioid carcinoma (35;0.0485)|Epithelial(6;5.02e-21)|all cancers(9;1.28e-20)|OV - Ovarian serous cystadenocarcinoma(6;1.09e-14)|BRCA - Breast invasive adenocarcinoma(12;0.00501)|LUSC - Lung squamous cell carcinoma(543;0.171) GCCACAGCTTCTTTCAGGACA 0.393000 8 29 0 0 0.003080 0 0 AKR7A2 8574 broad.mit.edu 37 1 19632584 19632584 + Silent SNP G G A TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 125ccb76-bf8d-4ce7-a04c-4424d6da0322 41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a g.chr1:19632584G>A ENST00000235835.3 - 6 867 c.846C>T c.(844-846)gcC>gcT p.A282A NM_003689.3 NP_003680.2 O43488 ARK72_HUMAN aldo-keto reductase family 7, member A2 (aflatoxin aldehyde reductase) 282 carbohydrate metabolic process|cellular aldehyde metabolic process Golgi apparatus alditol:NADP+ 1-oxidoreductase activity|electron carrier activity p.A282A(1) central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 9 Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Breast(348;0.00049)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00461)|BRCA - Breast invasive adenocarcinoma(304;1.83e-05)|Kidney(64;0.000167)|GBM - Glioblastoma multiforme(114;0.00115)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649) CGCCATATGCGGCCTGCAGGG 0.632000 10 66 0 0 0.008291 0 0 ZNF7 7553 broad.mit.edu 37 8 146067676 146067676 + Nonsense_Mutation SNP C C G TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 125ccb76-bf8d-4ce7-a04c-4424d6da0322 41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a g.chr8:146067676C>G ENST00000528372.1 + 5 1424 c.1184C>G c.(1183-1185)tCa>tGa p.S395* ZNF7_ENST00000325217.5_Intron|ZNF7_ENST00000446747.2_Nonsense_Mutation_p.S406*|ZNF7_ENST00000325241.6_Nonsense_Mutation_p.S395*|ZNF7_ENST00000525266.1_Intron|ZNF7_ENST00000544249.1_Nonsense_Mutation_p.S299* P17097 ZNF7_HUMAN zinc finger protein 7 395 multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(2)|kidney(1)|large_intestine(7)|lung(6)|ovary(5)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 all_cancers(97;1.03e-11)|all_epithelial(106;6.69e-11)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) Breast(495;0.0812)|Ovarian(118;0.0822)|Acute lymphoblastic leukemia(644;0.143) Epithelial(56;8.75e-39)|OV - Ovarian serous cystadenocarcinoma(54;1.13e-38)|all cancers(56;8.48e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0355)|Colorectal(110;0.055) GBM - Glioblastoma multiforme(99;2.11e-07) CTAAAAGCCTCAGACAGTCCA 0.493000 7 79 0 0 0.001984 0 0 ZNF281 23528 broad.mit.edu 37 1 200376835 200376835 + Missense_Mutation SNP C C G TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 125ccb76-bf8d-4ce7-a04c-4424d6da0322 41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a g.chr1:200376835C>G ENST00000294740.2 - 2 2123 c.1999G>C c.(1999-2001)Gaa>Caa p.E667Q ZNF281_ENST00000367352.3_Missense_Mutation_p.E631Q|ZNF281_ENST00000367353.1_Missense_Mutation_p.E667Q NM_012482.3 NP_036614.1 Q9Y2X9 ZN281_HUMAN zinc finger protein 281 667 negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding breast(4)|endometrium(3)|kidney(3)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 27 TTGGAGTATTCTTGCAACATA 0.403000 8 91 0 0 0.004482 0 0 MYLIP 29116 broad.mit.edu 37 6 16143386 16143386 + Silent SNP G G T TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 125ccb76-bf8d-4ce7-a04c-4424d6da0322 41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a g.chr6:16143386G>T ENST00000349606.4 + 3 561 c.57G>T c.(55-57)ctG>ctT p.L19L MYLIP_ENST00000356840.3_Silent_p.L200L Q8WY64 MYLIP_HUMAN myosin regulatory light chain interacting protein 200 FERM. cellular component movement|nervous system development cytoplasm|cytoskeleton|extrinsic to membrane cytoskeletal protein binding|ubiquitin-protein ligase activity|zinc ion binding breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 28 Breast(50;0.0799)|Ovarian(93;0.103) all_hematologic(90;0.0895) Epithelial(50;0.241) GGCAGAAACTGCTCATTGGGG 0.433000 4 66 0.00024832 0.000445145 0.009096 1 0 SH3KBP1 30011 broad.mit.edu 37 X 19702122 19702122 + Missense_Mutation SNP T T A TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 125ccb76-bf8d-4ce7-a04c-4424d6da0322 41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a g.chrX:19702122T>A ENST00000397821.3 - 6 835 c.545A>T c.(544-546)gAg>gTg p.E182V SH3KBP1_ENST00000379697.3_Missense_Mutation_p.E226V|SH3KBP1_ENST00000379698.4_Missense_Mutation_p.E145V NM_031892.2 NP_114098.1 Q96B97 SH3K1_HUMAN SH3-domain kinase binding protein 1 182 apoptosis|cell-cell signaling|endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway cytoplasmic vesicle membrane|cytoskeleton|cytosol|focal adhesion|nucleus|synapse|synaptosome SH3 domain binding breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(8)|skin(4) 29 CCCATCACTCTCGGAGCCTGT 0.537000 8 38 0 0 0.003080 0 0 RBM12B 389677 broad.mit.edu 37 8 94746869 94746869 + Silent SNP A A G TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 125ccb76-bf8d-4ce7-a04c-4424d6da0322 41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a g.chr8:94746869A>G ENST00000399300.2 - 3 1983 c.1770T>C c.(1768-1770)ccT>ccC p.P590P RBM12B_ENST00000517700.1_Silent_p.P590P|RBM12B_ENST00000520961.1_Intron NM_203390.2 NP_976324.2 Q8IXT5 RB12B_HUMAN RNA binding motif protein 12B 590 nucleotide binding|RNA binding breast(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2) 30 Breast(36;4.14e-07) BRCA - Breast invasive adenocarcinoma(8;0.0168) CCTCCTCAGAAGGCCGCCTGA 0.617000 21 81 0 0 0.012319 0 0 DCHS2 54798 broad.mit.edu 37 4 155254167 155254167 + Missense_Mutation SNP C C T TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 125ccb76-bf8d-4ce7-a04c-4424d6da0322 41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a g.chr4:155254167C>T ENST00000357232.3 - 9 1695 c.1696G>A c.(1696-1698)Gcc>Acc p.A566T DCHS2_ENST00000339452.1_Missense_Mutation_p.A1065T NM_017639.3 NP_060109.2 Q6V1P9 PCD23_HUMAN dachsous cadherin-related 2 566 Cadherin 4. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 176 all_hematologic(180;0.208) Renal(120;0.0854) LUSC - Lung squamous cell carcinoma(193;0.107) ACCAGCAGGGCTGCCTGAGGA 0.607000 9 84 0 0 0.004482 0 0 ADCY7 113 broad.mit.edu 37 16 50348223 50348223 + Silent SNP C C A TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 125ccb76-bf8d-4ce7-a04c-4424d6da0322 41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a g.chr16:50348223C>A ENST00000394697.2 + 24 3217 c.2877C>A c.(2875-2877)gcC>gcA p.A959A ADCY7_ENST00000254235.3_Silent_p.A959A P51828 ADCY7_HUMAN adenylate cyclase 7 959 Guanylate cyclase 2. activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to ethanol|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of cAMP biosynthetic process|synaptic transmission|transmembrane transport|water transport integral to membrane|plasma membrane adenylate cyclase activity|ATP binding|metal ion binding breast(1)|cervix(1)|endometrium(5)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3) 35 all_cancers(37;0.0127) GBM - Glioblastoma multiforme(240;0.195) Bromocriptine(DB01200) GGCAGCATGCCCACATTGGTG 0.622000 5 37 0.00116845 0.00205668 0.001168 1 0 NBPF9 400818 broad.mit.edu 37 1 144816648 144816648 + Missense_Mutation SNP G G C TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 125ccb76-bf8d-4ce7-a04c-4424d6da0322 41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a g.chr1:144816648G>C ENST00000440491.2 + 5 781 c.781G>C c.(781-783)Gaa>Caa p.E261Q NBPF9_ENST00000468645.1_3'UTR|NBPF9_ENST00000338347.4_Missense_Mutation_p.E261Q|NBPF9_ENST00000281815.8_5'UTR NM_001037675.2 NP_001032764.1 neuroblastoma breakpoint family, member 9 NS(2)|prostate(1) 3 CTCTCATGTTGAACGGGAAGA 0.458000 39 275 0 0 0.008740 0 0 ALMS1 7840 broad.mit.edu 37 2 73828456 73828456 + Missense_Mutation SNP G G A TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 125ccb76-bf8d-4ce7-a04c-4424d6da0322 41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a g.chr2:73828456G>A ENST00000264448.6 + 19 12115 c.12004G>A c.(12004-12006)Gag>Aag p.E4002K ALMS1_ENST00000409009.1_Missense_Mutation_p.E3960K|ALMS1_ENST00000464408.2_3'UTR NM_015120.4 NP_055935.4 Q8TCU4 ALMS1_HUMAN Alstrom syndrome 1 4002 G2/M transition of mitotic cell cycle centrosome|cilium|cytosol|microtubule basal body|spindle pole breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2) 147 GCCACTGCGGGAGCAGAACTG 0.582000 18 106 0 0 0.006122 0 0 UVSSA 57654 broad.mit.edu 37 4 1360143 1360143 + Silent SNP C C T TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 125ccb76-bf8d-4ce7-a04c-4424d6da0322 41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a g.chr4:1360143C>T ENST00000389851.4 + 8 1659 c.1212C>T c.(1210-1212)gaC>gaT p.D404D UVSSA_ENST00000511563.1_5'UTR|UVSSA_ENST00000511216.1_Silent_p.D404D|UVSSA_ENST00000507531.1_Silent_p.D404D NM_020894.2 NP_065945.2 Q2YD98 K1530_HUMAN UV-stimulated scaffold protein A 404 AAGATGAGGACGATGAGGACT 0.587000 20 163 0 0 0.002780 0 0 ZNF512B 57473 broad.mit.edu 37 20 62597525 62597525 + Missense_Mutation SNP G G A TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 125ccb76-bf8d-4ce7-a04c-4424d6da0322 41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a g.chr20:62597525G>A ENST00000450537.1 - 5 1063 c.1003C>T c.(1003-1005)Cgt>Tgt p.R335C ZNF512B_ENST00000369888.1_Missense_Mutation_p.R335C|ZNF512B_ENST00000217130.3_Missense_Mutation_p.R335C Q96KM6 Z512B_HUMAN zinc finger protein 512B 335 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(16)|ovary(1)|prostate(4)|skin(1) 33 all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08) CCTGTGGCACGAGGTGCTTTG 0.582000 9 62 0 0 0.006214 0 0 ZMAT1 84460 broad.mit.edu 37 X 101152892 101152892 + Missense_Mutation SNP A A T TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 125ccb76-bf8d-4ce7-a04c-4424d6da0322 41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a g.chrX:101152892A>T ENST00000372782.3 - 5 501 c.454T>A c.(454-456)Tta>Ata p.L152I ZMAT1_ENST00000540921.1_Missense_Mutation_p.L152I|ZMAT1_ENST00000458570.1_5'UTR NM_001011657.3 NP_001011657.2 A7MD47 A7MD47_HUMAN zinc finger, matrin-type 1 449 nucleus zinc ion binding endometrium(3)|kidney(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2) 22 TCCTCCATTAATTGCTTCAGT 0.403000 10 27 0 0 0.008291 0 0 MIR646HG 284757 broad.mit.edu 37 20 58883604 58883604 + RNA SNP C C T TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 125ccb76-bf8d-4ce7-a04c-4424d6da0322 41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a g.chr20:58883604C>T ENST00000432910.1 + 0 332 MIR646_ENST00000385067.1_RNA NR_046099.1 gcagctgcctctgaggcctca 0.582000 7 65 0 0 0.001984 0 0 NOTCH1 4851 broad.mit.edu 37 9 139412690 139412690 + Missense_Mutation SNP G G A TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 125ccb76-bf8d-4ce7-a04c-4424d6da0322 41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a g.chr9:139412690G>A ENST00000277541.6 - 7 1229 c.1154C>T c.(1153-1155)tCc>tTc p.S385F NM_017617.3 NP_060087.3 P46531 NOTC1_HUMAN notch 1 385 EGF-like 10. aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane calcium ion binding|protein binding|receptor activity breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3) 1359 all_cancers(76;0.223) Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06) GTCGCAGTTGGAGCCCTCGTT 0.672000 """T, Mis, O""" TRB@ T-ALL HNSCC(8;0.001) 7 9 0 0 0.003080 0 0 ZNF91 7644 broad.mit.edu 37 19 23544684 23544684 + Missense_Mutation SNP G G T TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 125ccb76-bf8d-4ce7-a04c-4424d6da0322 41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a g.chr19:23544684G>T ENST00000300619.7 - 4 1302 c.1097C>A c.(1096-1098)gCt>gAt p.A366D ZNF91_ENST00000599743.1_Intron|ZNF91_ENST00000397082.2_Missense_Mutation_p.A334D NM_003430.2 NP_003421.2 Q05481 ZNF91_HUMAN zinc finger protein 91 366 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611) CTTATGATTAGCAAGGGTTGA 0.348000 11 42 6.40141e-05 0.000115821 0.010729 1 0 ZIC5 85416 broad.mit.edu 37 13 100617654 100617654 + Missense_Mutation SNP C C T TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 125ccb76-bf8d-4ce7-a04c-4424d6da0322 41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a g.chr13:100617654C>T ENST00000267294.4 - 2 2202 c.1969G>A c.(1969-1971)Gaa>Aaa p.E657K NM_033132.3 NP_149123.2 Q96T25 ZIC5_HUMAN Zic family member 5 657 cell differentiation nucleus DNA binding|zinc ion binding endometrium(3)|kidney(1)|lung(2)|prostate(1)|skin(2) 9 all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184) CGCACAACTTCAGGGTTCCCG 0.478000 13 69 0 0 0.013537 0 0 FCRL4 83417 broad.mit.edu 37 1 157556033 157556033 + Missense_Mutation SNP C C A TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 125ccb76-bf8d-4ce7-a04c-4424d6da0322 41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a g.chr1:157556033C>A ENST00000271532.1 - 6 1195 c.1060G>T c.(1060-1062)Gca>Tca p.A354S FCRL4_ENST00000448509.2_5'UTR NM_031282.2 NP_112572.1 Q96PJ5 FCRL4_HUMAN Fc receptor-like 4 354 Ig-like C2-type 4. integral to membrane|plasma membrane receptor activity breast(2)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(5)|lung(20)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 40 all_hematologic(112;0.0378)|Hepatocellular(266;0.178) Prostate(1639;0.245) TATCCCCCTGCATGGCTCTGT 0.537000 5 106 3.59834e-05 6.57161e-05 0.001168 1 0 DLG5 9231 broad.mit.edu 37 10 79570931 79570931 + Missense_Mutation SNP C C G TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 125ccb76-bf8d-4ce7-a04c-4424d6da0322 41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a g.chr10:79570931C>G ENST00000372391.2 - 23 4389 c.4384G>C c.(4384-4386)Gag>Cag p.E1462Q DLG5_ENST00000372388.2_Missense_Mutation_p.E1122Q|DLG5_ENST00000459739.1_5'UTR NM_004747.3 NP_004738.3 Q8TDM6 DLG5_HUMAN discs, large homolog 5 (Drosophila) 1462 cell-cell adhesion|intracellular signal transduction|negative regulation of cell proliferation|regulation of apoptosis cell junction|cytoplasm beta-catenin binding|cytoskeletal protein binding|receptor signaling complex scaffold activity breast(9)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(17)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 60 all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146) Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446) GATGGATGCTCCGGGGTGGTG 0.637000 14 79 0 0 0.004007 0 0 PRICKLE2 166336 broad.mit.edu 37 3 64132920 64132920 + Missense_Mutation SNP G G C TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 125ccb76-bf8d-4ce7-a04c-4424d6da0322 41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a g.chr3:64132920G>C ENST00000295902.6 - 7 1831 c.1246C>G c.(1246-1248)Ctg>Gtg p.L416V PRICKLE2_ENST00000564377.1_Missense_Mutation_p.L472V NM_198859.3 NP_942559.1 Q7Z3G6 PRIC2_HUMAN prickle homolog 2 (Drosophila) 416 cytoplasm|nuclear membrane zinc ion binding breast(2)|endometrium(1)|large_intestine(9)|liver(1)|lung(10)|ovary(4)|prostate(2)|skin(2)|stomach(1) 32 Lung NSC(201;0.136) BRCA - Breast invasive adenocarcinoma(55;0.000971)|KIRC - Kidney renal clear cell carcinoma(15;0.00443)|Kidney(15;0.00497) AGGAGCTGCAGAGGGCTCTGG 0.612000 21 93 0 0 0.008871 0 0 PKDREJ 10343 broad.mit.edu 37 22 46653873 46653873 + Missense_Mutation SNP C C T TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 125ccb76-bf8d-4ce7-a04c-4424d6da0322 41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a g.chr22:46653873C>T ENST00000253255.5 - 1 5346 c.5347G>A c.(5347-5349)Gaa>Aaa p.E1783K NM_006071.1 NP_006062.1 Q9NTG1 PKDRE_HUMAN polycystin (PKD) family receptor for egg jelly 1783 acrosome reaction|neuropeptide signaling pathway integral to membrane calcium ion binding|ion channel activity NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2) 73 Ovarian(80;0.00965)|all_neural(38;0.0416) UCEC - Uterine corpus endometrioid carcinoma (28;0.00459) GACGAGCTTTCAGGAAGAAAT 0.423000 19 172 0 0 0.010504 0 0 BMPER 168667 broad.mit.edu 37 7 34125426 34125426 + Silent SNP C C G TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 125ccb76-bf8d-4ce7-a04c-4424d6da0322 41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a g.chr7:34125426C>G ENST00000297161.2 + 14 1841 c.1467C>G c.(1465-1467)ctC>ctG p.L489L BMPER_ENST00000426693.1_Silent_p.L489L NM_133468.4 NP_597725.1 Q8N8U9 BMPER_HUMAN BMP binding endothelial regulator 489 VWFD. blood vessel endothelial cell proliferation involved in sprouting angiogenesis|endothelial cell activation|negative regulation of BMP signaling pathway|positive regulation of ERK1 and ERK2 cascade|regulation of endothelial cell migration|regulation of pathway-restricted SMAD protein phosphorylation extracellular space breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(24)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 48 CGCCGCATCTCAAGGGCAAGC 0.433000 9 43 0 0 0.004482 0 0 ETS1 2113 broad.mit.edu 37 11 128359290 128359290 + Missense_Mutation SNP T T C TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 125ccb76-bf8d-4ce7-a04c-4424d6da0322 41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a g.chr11:128359290T>C ENST00000392668.3 - 5 498 c.430A>G c.(430-432)Atg>Gtg p.M144V ETS1_ENST00000531611.1_Missense_Mutation_p.M100V|ETS1_ENST00000535549.1_Intron|ETS1_ENST00000319397.5_Missense_Mutation_p.M100V|ETS1_ENST00000345075.4_Missense_Mutation_p.M100V|ETS1_ENST00000526145.1_Missense_Mutation_p.M100V NM_001143820.1 NP_001137292.1 P14921 ETS1_HUMAN v-ets avian erythroblastosis virus E26 oncogene homolog 1 100 cell motility|immune response|induction of apoptosis|negative regulation of cell cycle|negative regulation of cell proliferation|PML body organization|positive regulation of cellular component movement|positive regulation of erythrocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|response to antibiotic|transcription from RNA polymerase II promoter nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|pleura(1)|prostate(1)|upper_aerodigestive_tract(3) 35 all_hematologic(175;0.0537) Lung NSC(97;0.000542)|all_lung(97;0.000665)|Breast(109;0.00765)|all_neural(223;0.0351)|Medulloblastoma(222;0.0425) BRCA - Breast invasive adenocarcinoma(274;1.47e-05)|OV - Ovarian serous cystadenocarcinoma(99;0.0174)|LUSC - Lung squamous cell carcinoma(976;0.0815)|Lung(307;0.0833) GCTCCATTCATACAGAACTTC 0.532000 18 139 0 0 0.006122 0 0 POT1 25913 broad.mit.edu 37 7 124503479 124503479 + Missense_Mutation SNP C C A TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 125ccb76-bf8d-4ce7-a04c-4424d6da0322 41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a g.chr7:124503479C>A ENST00000357628.3 - 8 1069 c.471G>T c.(469-471)caG>caT p.Q157H POT1_ENST00000393329.1_Missense_Mutation_p.Q26H NM_015450.2 NP_056265.2 Q9NUX5 POTE1_HUMAN protection of telomeres 1 157 DNA duplex unwinding|negative regulation of telomere maintenance via telomerase|positive regulation of DNA strand elongation|positive regulation of helicase activity|positive regulation of telomerase activity|positive regulation of telomere maintenance via telomerase|telomere capping|telomere formation via telomerase|telomere maintenance via telomerase nuclear telomere cap complex|nucleoplasm DEAD/H-box RNA helicase binding|single-stranded telomeric DNA binding|telomerase inhibitor activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(4)|liver(1)|lung(23)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1) 47 ACTGCATTGGCTGAACATCAC 0.408000 12 77 0.00136819 0.00239742 0.013537 1 0 UGT1A6 54578 broad.mit.edu 37 2 234602064 234602064 + Missense_Mutation SNP C C G TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 125ccb76-bf8d-4ce7-a04c-4424d6da0322 41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a g.chr2:234602064C>G ENST00000305139.6 + 1 553 c.414C>G c.(412-414)ttC>ttG p.F138L UGT1A6_ENST00000480628.1_Intron|UGT1A8_ENST00000373450.4_Intron|UGT1A9_ENST00000354728.4_Intron|UGT1A10_ENST00000373445.1_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A6_ENST00000373424.1_Intron|UGT1A7_ENST00000373426.3_Intron NM_001072.3 NP_001063.2 central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|skin(1)|upper_aerodigestive_tract(1) 22 Breast(86;0.000765)|all_lung(227;0.00267)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0457)|Lung SC(224;0.128) Epithelial(121;5.86e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000384)|Lung(119;0.00306)|LUSC - Lung squamous cell carcinoma(224;0.00702) CCCTGAACTTCTTTAAGGAGA 0.488000 10 73 0 0 0.008291 0 0 MOV10 4343 broad.mit.edu 37 1 113238852 113238852 + Missense_Mutation SNP C C T TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 125ccb76-bf8d-4ce7-a04c-4424d6da0322 41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a g.chr1:113238852C>T ENST00000369644.1 + 13 2723 c.1694C>T c.(1693-1695)aCc>aTc p.T565I MOV10_ENST00000468624.1_3'UTR|MOV10_ENST00000357443.2_Missense_Mutation_p.T621I|RP11-426L16.3_ENST00000421943.1_RNA|MOV10_ENST00000413052.2_Missense_Mutation_p.T621I|MOV10_ENST00000369645.1_Missense_Mutation_p.T621I Q9HCE1 MOV10_HUMAN Mov10, Moloney leukemia virus 10, homolog (mouse) 621 mRNA cleavage involved in gene silencing by miRNA|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasmic mRNA processing body ATP binding|helicase activity|protein binding|RNA binding breast(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(15)|ovary(5)|prostate(1)|skin(3)|urinary_tract(3) 38 Lung SC(450;0.246) all_cancers(81;3.31e-11)|all_epithelial(167;5.69e-10)|all_lung(203;3.73e-05)|Breast(1374;0.000525)|Lung NSC(69;0.000954)|Ovarian(761;0.0367)|Lung SC(238;0.114) OV - Ovarian serous cystadenocarcinoma(397;3.99e-67)|all cancers(265;1e-62)|Epithelial(280;4.78e-61)|Lung(183;0.0234)|Colorectal(144;0.0686)|READ - Rectum adenocarcinoma(129;0.0929)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|BRCA - Breast invasive adenocarcinoma(282;0.24) GTCTTAATTACCACCCTCATC 0.532000 5 52 0 0 0.001984 0 0 SLC25A25 114789 broad.mit.edu 37 9 130863479 130863479 + Missense_Mutation SNP G G C TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 125ccb76-bf8d-4ce7-a04c-4424d6da0322 41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a g.chr9:130863479G>C ENST00000373066.5 + 2 731 c.324G>C c.(322-324)aaG>aaC p.K108N SLC25A25_ENST00000432073.2_Missense_Mutation_p.K108N|SLC25A25_ENST00000373069.5_Missense_Mutation_p.K122N|SLC25A25_ENST00000373064.5_Missense_Mutation_p.K88N|SLC25A25_ENST00000433501.1_5'UTR|SLC25A25_ENST00000373068.2_Missense_Mutation_p.K122N NM_001265614.2 NP_001252543.1 Q6KCM7 SCMC2_HUMAN solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 25 88 EF-hand 2. transmembrane transport integral to membrane|mitochondrial inner membrane calcium ion binding breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(3) 10 TGGTGTTTAAGAGTTTGGACA 0.512000 13 130 0 0 0.003163 0 0 PKDREJ 10343 broad.mit.edu 37 22 46654124 46654124 + Missense_Mutation SNP C C T TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 125ccb76-bf8d-4ce7-a04c-4424d6da0322 41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a g.chr22:46654124C>T ENST00000253255.5 - 1 5095 c.5096G>A c.(5095-5097)aGa>aAa p.R1699K NM_006071.1 NP_006062.1 Q9NTG1 PKDRE_HUMAN polycystin (PKD) family receptor for egg jelly 1699 acrosome reaction|neuropeptide signaling pathway integral to membrane calcium ion binding|ion channel activity NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2) 73 Ovarian(80;0.00965)|all_neural(38;0.0416) UCEC - Uterine corpus endometrioid carcinoma (28;0.00459) CCTCTTCTTTCTTTTGAATAT 0.418000 7 87 0 0 0.003080 0 0 PIK3R4 30849 broad.mit.edu 37 3 130452968 130452968 + Missense_Mutation SNP G G C TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 125ccb76-bf8d-4ce7-a04c-4424d6da0322 41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a g.chr3:130452968G>C ENST00000356763.3 - 4 1431 c.874C>G c.(874-876)Cag>Gag p.Q292E NM_014602.2 NP_055417.1 Q99570 PI3R4_HUMAN phosphoinositide-3-kinase, regulatory subunit 4 292 Protein kinase. fibroblast growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway cytosol ATP binding|protein binding|protein serine/threonine kinase activity NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(6)|large_intestine(16)|lung(28)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1) 77 TGAATCATCTGAGTTACCTAT 0.348000 9 65 0 0 0.004482 0 0 SYNE2 23224 broad.mit.edu 37 14 64564717 64564717 + Silent SNP A A G TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 125ccb76-bf8d-4ce7-a04c-4424d6da0322 41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a g.chr14:64564717A>G ENST00000357395.3 + 63 12458 c.1314A>G c.(1312-1314)aaA>aaG p.K438K SYNE2_ENST00000394768.2_Silent_p.K438K|SYNE2_ENST00000358025.3_Silent_p.K4053K|ESR2_ENST00000542956.1_Intron|SYNE2_ENST00000555002.1_Silent_p.K687K|SYNE2_ENST00000344113.4_Silent_p.K4053K|SYNE2_ENST00000554584.1_Silent_p.K4086K Q8WXH0 SYNE2_HUMAN spectrin repeat containing, nuclear envelope 2 4053 centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc actin binding|protein binding NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4) 224 all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681) ACCAGAGAAAAGAAGACCTGT 0.448000 11 81 0 0 0.008291 0 0 SPINT2 10653 broad.mit.edu 37 19 38781203 38781203 + Missense_Mutation SNP C C G TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 125ccb76-bf8d-4ce7-a04c-4424d6da0322 41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a g.chr19:38781203C>G ENST00000301244.7 + 6 1015 c.580C>G c.(580-582)Ctt>Gtt p.L194V CTB-102L5.4_ENST00000591889.1_Silent_p.P71P|SPINT2_ENST00000587090.1_Missense_Mutation_p.L144V|SPINT2_ENST00000454580.3_Missense_Mutation_p.L137V NM_021102.3 NP_066925.1 O43291 SPIT2_HUMAN serine peptidase inhibitor, Kunitz type, 2 194 cellular component movement cytoplasm|extracellular region|integral to membrane|soluble fraction serine-type endopeptidase inhibitor activity large_intestine(2)|lung(1)|ovary(1) 4 all_cancers(60;6.83e-07) Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292) TCCCCTGCCCCTTGGCTCAAA 0.612000 4 25 0 0 0.000602 0 0 FCGBP 8857 broad.mit.edu 37 19 40364331 40364331 + Missense_Mutation SNP C C T TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 125ccb76-bf8d-4ce7-a04c-4424d6da0322 41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a g.chr19:40364331C>T ENST00000221347.6 - 31 14318 c.14311G>A c.(14311-14313)Gaa>Aaa p.E4771K NM_003890.2 NP_003881.2 Q9Y6R7 FCGBP_HUMAN Fc fragment of IgG binding protein 4771 TIL 11. extracellular region protein binding NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3) 165 all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06) Epithelial(26;6.25e-23)|all cancers(26;1.13e-20) ACACAGCCTTCACGGCAGGCC 0.652000 10 71 0 0 0.010729 0 0 GPR158 57512 broad.mit.edu 37 10 25701358 25701358 + Missense_Mutation SNP G G A TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 125ccb76-bf8d-4ce7-a04c-4424d6da0322 41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a g.chr10:25701358G>A ENST00000376351.3 + 4 1650 c.1291G>A c.(1291-1293)Gac>Aac p.D431N NM_020752.2 NP_065803.2 Q5T848 GP158_HUMAN G protein-coupled receptor 158 431 integral to membrane|plasma membrane G-protein coupled receptor activity breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 119 TATGCTGCTCGACTTCGTTAG 0.488000 8 175 0 0 0.006214 0 0 SEC31B 25956 broad.mit.edu 37 10 102249138 102249138 + Missense_Mutation SNP C C T TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 125ccb76-bf8d-4ce7-a04c-4424d6da0322 41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a g.chr10:102249138C>T ENST00000370345.3 - 23 3139 c.3042G>A c.(3040-3042)atG>atA p.M1014I NM_015490.3 NP_056305.1 Q9NQW1 SC31B_HUMAN SEC31 homolog B (S. cerevisiae) 1014 Pro-rich. protein transport|vesicle-mediated transport endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane NS(1)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(3)|lung(17)|ovary(1)|urinary_tract(1) 36 Colorectal(252;0.117) Epithelial(162;2.36e-10)|all cancers(201;2.09e-08) GTGCTGGGGGCATAAATGTCT 0.527000 9 43 0 0 0.010729 0 0 PDXDC1 23042 broad.mit.edu 37 16 15130131 15130131 + Silent SNP G G A TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 125ccb76-bf8d-4ce7-a04c-4424d6da0322 41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a g.chr16:15130131G>A ENST00000396410.4 + 23 2463 c.2366G>A c.(2365-2367)tGa>tAa p.*789* PDXDC1_ENST00000563679.1_Silent_p.*807*|PDXDC1_ENST00000569715.1_Silent_p.*762*|PDXDC1_ENST00000450288.2_Silent_p.*761*|PDXDC1_ENST00000447912.2_Silent_p.*698*|PDXDC1_ENST00000325823.7_Silent_p.*774*|PDXDC1_ENST00000535621.2_Intron NM_015027.2 NP_055842.2 Q6P996 PDXD1_HUMAN pyridoxal-dependent decarboxylase domain containing 1 0 carboxylic acid metabolic process carboxy-lyase activity|protein binding|pyridoxal phosphate binding central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(2)|liver(1)|lung(10)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 38 Pyridoxal Phosphate(DB00114) AGCTTAAGATGAGACTCATTG 0.478000 11 85 0 0 0.008291 0 0 ZNF610 162963 broad.mit.edu 37 19 52852486 52852486 + Missense_Mutation SNP C C G TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 125ccb76-bf8d-4ce7-a04c-4424d6da0322 41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a g.chr19:52852486C>G ENST00000601151.1 + 3 513 c.61C>G c.(61-63)Cag>Gag p.Q21E ZNF610_ENST00000327920.8_Missense_Mutation_p.Q21E|ZNF610_ENST00000321287.8_Missense_Mutation_p.Q21E|ZNF610_ENST00000403906.3_Missense_Mutation_p.Q21E NM_001161427.1 NP_001154899.1 Q8N9Z0 ZN610_HUMAN zinc finger protein 610 21 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(8)|liver(2)|lung(9)|ovary(2)|stomach(2)|upper_aerodigestive_tract(2) 34 OV - Ovarian serous cystadenocarcinoma(262;0.00396)|GBM - Glioblastoma multiforme(134;0.00434) GGCTCTTCCTCAGGTAAAGTG 0.448000 6 34 0 0 0.003080 0 0 ARHGAP31 57514 broad.mit.edu 37 3 119134182 119134182 + Missense_Mutation SNP G G A TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 125ccb76-bf8d-4ce7-a04c-4424d6da0322 41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a g.chr3:119134182G>A ENST00000264245.4 + 12 3938 c.3406G>A c.(3406-3408)Gag>Aag p.E1136K NM_020754.2 NP_065805.2 Q2M1Z3 RHG31_HUMAN Rho GTPase activating protein 31 1136 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|focal adhesion|lamellipodium GTPase activator activity breast(5)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(3)|large_intestine(11)|lung(29)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 67 GCAGGTCTCTGAGCCAGGAGA 0.532000 6 74 0 0 0.001168 0 0 HDAC7 51564 broad.mit.edu 37 12 48188581 48188581 + Missense_Mutation SNP C C T TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 125ccb76-bf8d-4ce7-a04c-4424d6da0322 41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a g.chr12:48188581C>T ENST00000080059.7 - 12 1419 c.1420G>A c.(1420-1422)Gag>Aag p.E474K HDAC7_ENST00000380610.4_Missense_Mutation_p.E491K|HDAC7_ENST00000354334.3_Missense_Mutation_p.E437K|HDAC7_ENST00000552960.1_Missense_Mutation_p.E457K|HDAC7_ENST00000427332.2_Missense_Mutation_p.E435K NM_015401.3 NP_056216.2 Q8WUI4 HDAC7_HUMAN histone deacetylase 7 435 Transcription repression 2 (By similarity). negative regulation of interleukin-2 production|negative regulation of osteoblast differentiation|positive regulation of cell migration involved in sprouting angiogenesis|transcription, DNA-dependent cytoplasm|histone deacetylase complex activating transcription factor binding|histone deacetylase activity (H3-K16 specific)|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein kinase C binding|repressing transcription factor binding breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 25 GBM - Glioblastoma multiforme(48;0.137) CCTCTGGCCTCAGGCTGCCCA 0.657000 11 68 0 0 0.010729 0 0 ZC3H3 23144 broad.mit.edu 37 8 144620188 144620188 + Missense_Mutation SNP C C T TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 125ccb76-bf8d-4ce7-a04c-4424d6da0322 41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a g.chr8:144620188C>T ENST00000262577.5 - 2 1380 c.1349G>A c.(1348-1350)aGa>aAa p.R450K NM_015117.2 NP_055932.2 Q8IXZ2 ZC3H3_HUMAN zinc finger CCCH-type containing 3 450 mRNA polyadenylation|poly(A)+ mRNA export from nucleus|regulation of mRNA export from nucleus nucleus nucleic acid binding|zinc ion binding breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 23 all_cancers(97;8.64e-11)|all_epithelial(106;6.43e-09)|Lung NSC(106;0.000202)|all_lung(105;0.000548)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155) Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.107) GCTGCTGCGTCTCCGGATGAT 0.617000 9 85 0 0 0.006214 0 0 GRID1 2894 broad.mit.edu 37 10 87966143 87966143 + Silent SNP G G T rs61744114 TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 125ccb76-bf8d-4ce7-a04c-4424d6da0322 41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a g.chr10:87966143G>T ENST00000327946.7 - 3 583 c.498C>A c.(496-498)gtC>gtA p.V166V NM_017551.2 NP_060021.1 Q9ULK0 GRID1_HUMAN glutamate receptor, ionotropic, delta 1 166 cell junction|integral to membrane|outer membrane-bounded periplasmic space|postsynaptic membrane extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(46)|ovary(5)|prostate(4)|skin(5)|stomach(4)|upper_aerodigestive_tract(5) 106 L-Glutamic Acid(DB00142) CGTAGAACATGACGAACTTCT 0.622000 Multiple Myeloma(13;0.14) 11 39 3.03607e-14 5.84669e-14 0.013537 1 0 KRT39 390792 broad.mit.edu 37 17 39122956 39122956 + Silent SNP G G A TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 125ccb76-bf8d-4ce7-a04c-4424d6da0322 41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a g.chr17:39122956G>A ENST00000355612.2 - 1 188 c.153C>T c.(151-153)ctC>ctT p.L51L AC004231.2_ENST00000418393.1_RNA NM_213656.3 NP_998821.3 Q6A163 K1C39_HUMAN keratin 39 51 Head. intermediate filament structural molecule activity NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1) 17 Breast(137;0.00043)|Ovarian(249;0.15) AGGGAATTCTGAGAACGTGGC 0.498000 41 243 0 0 0.006999 0 0 AKAP10 11216 broad.mit.edu 37 17 19850729 19850729 + Missense_Mutation SNP C C T TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 125ccb76-bf8d-4ce7-a04c-4424d6da0322 41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a g.chr17:19850729C>T ENST00000225737.6 - 5 1124 c.967G>A c.(967-969)Gac>Aac p.D323N AKAP10_ENST00000395536.3_Missense_Mutation_p.D323N NM_007202.3 NP_009133.2 O43572 AKA10_HUMAN A kinase (PRKA) anchor protein 10 323 RGS 1. blood coagulation|protein localization cytosol|mitochondrion|plasma membrane signal transducer activity NS(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(3)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(2) 21 all_cancers(12;2.08e-05)|all_epithelial(12;0.00158)|Breast(13;0.165) CCTATGATGTCATTTCTCATT 0.323000 12 98 0 0 0.010729 0 0 POT1 25913 broad.mit.edu 37 7 124503478 124503478 + Missense_Mutation SNP G G A TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 125ccb76-bf8d-4ce7-a04c-4424d6da0322 41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a g.chr7:124503478G>A ENST00000357628.3 - 8 1070 c.472C>T c.(472-474)Cca>Tca p.P158S POT1_ENST00000393329.1_Missense_Mutation_p.P27S NM_015450.2 NP_056265.2 Q9NUX5 POTE1_HUMAN protection of telomeres 1 158 DNA duplex unwinding|negative regulation of telomere maintenance via telomerase|positive regulation of DNA strand elongation|positive regulation of helicase activity|positive regulation of telomerase activity|positive regulation of telomere maintenance via telomerase|telomere capping|telomere formation via telomerase|telomere maintenance via telomerase nuclear telomere cap complex|nucleoplasm DEAD/H-box RNA helicase binding|single-stranded telomeric DNA binding|telomerase inhibitor activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(4)|liver(1)|lung(23)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1) 47 TACTGCATTGGCTGAACATCA 0.408000 11 79 0 0 0.010729 0 0 ZNF804B 219578 broad.mit.edu 37 7 88964913 88964913 + Missense_Mutation SNP G G A TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 125ccb76-bf8d-4ce7-a04c-4424d6da0322 41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a g.chr7:88964913G>A ENST00000333190.4 + 4 3226 c.2617G>A c.(2617-2619)Gag>Aag p.E873K NM_181646.2 NP_857597.1 A4D1E1 Z804B_HUMAN zinc finger protein 804B 873 intracellular zinc ion binding p.E873*(1) NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9) 144 all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151) STAD - Stomach adenocarcinoma(171;0.0513) GAGAAATCAAGAGTCTTTGGG 0.428000 HNSCC(36;0.09) 8 60 0 0 0.003080 0 0 PIP4K2B 8396 broad.mit.edu 37 17 36927505 36927505 + Missense_Mutation SNP G G C TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 125ccb76-bf8d-4ce7-a04c-4424d6da0322 41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a g.chr17:36927505G>C ENST00000269554.3 - 8 1308 c.828C>G c.(826-828)atC>atG p.I276M NM_003559.4 NP_003550.1 P78356 PI42B_HUMAN phosphatidylinositol-5-phosphate 4-kinase, type II, beta 276 PIPK. cell surface receptor linked signaling pathway endoplasmic reticulum membrane|plasma membrane 1-phosphatidylinositol-4-phosphate 5-kinase activity|1-phosphatidylinositol-5-phosphate 4-kinase activity|ATP binding|receptor signaling protein activity endometrium(3)|kidney(2)|large_intestine(4)|liver(1)|lung(8)|ovary(1) 19 TGTAGTCCATGATCTTCAGCT 0.562000 8 39 0 0 0.003080 0 0 ZSCAN32 54925 broad.mit.edu 37 16 3434561 3434561 + Missense_Mutation SNP C C T TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 125ccb76-bf8d-4ce7-a04c-4424d6da0322 41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a g.chr16:3434561C>T ENST00000396852.4 - 6 1439 c.1132G>A c.(1132-1134)Gat>Aat p.D378N ZSCAN32_ENST00000396846.3_Missense_Mutation_p.D378N|ZSCAN32_ENST00000304926.3_Missense_Mutation_p.D166N|ZSCAN32_ENST00000573830.1_Missense_Mutation_p.D89N|ZSCAN32_ENST00000574940.1_Missense_Mutation_p.D378N|ZSCAN32_ENST00000439568.2_Missense_Mutation_p.D89N|ZSCAN32_ENST00000422427.2_Missense_Mutation_p.D166N|LA16c-306E5.2_ENST00000575785.1_RNA zinc finger and SCAN domain containing 32 ACAGTGCCATCTTCTACCTCC 0.527000 18 129 0 0 0.006122 0 0 ALDH3B2 222 broad.mit.edu 37 11 67431887 67431887 + Missense_Mutation SNP C C T rs147016371 byFrequency TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 125ccb76-bf8d-4ce7-a04c-4424d6da0322 41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a g.chr11:67431887C>T ENST00000349015.3 - 8 1291 c.853G>A c.(853-855)Gcc>Acc p.A285T ALDH3B2_ENST00000530069.1_Missense_Mutation_p.A285T NM_000695.3 NP_000686.2 P48448 AL3B2_HUMAN aldehyde dehydrogenase 3 family, member B2 285 alcohol metabolic process|cellular aldehyde metabolic process|lipid metabolic process 3-chloroallyl aldehyde dehydrogenase activity|aldehyde dehydrogenase central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|prostate(2)|stomach(1)|urinary_tract(1) 18 NADH(DB00157) TTGGAGAAGGCGTACAGGGCC 0.637000 15 124 0 0 0.004007 0 0 GPR37 2861 broad.mit.edu 37 7 124404013 124404013 + Missense_Mutation SNP T T C TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 125ccb76-bf8d-4ce7-a04c-4424d6da0322 41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a g.chr7:124404013T>C ENST00000303921.2 - 1 1668 c.1018A>G c.(1018-1020)Ata>Gta p.I340V NM_005302.2 NP_005293.1 O15354 GPR37_HUMAN G protein-coupled receptor 37 (endothelin receptor type B-like) 340 endoplasmic reticulum membrane|integral to plasma membrane G-protein coupled receptor activity breast(2)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(11)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 ATTACCTCTATATAGGGCACG 0.498000 34 211 0 0 0.004878 0 0 ARSD 414 broad.mit.edu 37 X 2825395 2825395 + Missense_Mutation SNP T T C TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 125ccb76-bf8d-4ce7-a04c-4424d6da0322 41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a g.chrX:2825395T>C ENST00000381154.1 - 10 1774 c.1699A>G c.(1699-1701)Atc>Gtc p.I567V NM_001669.3 NP_001660.2 P51689 ARSD_HUMAN arylsulfatase D 567 lysosome arylsulfatase activity|metal ion binding large_intestine(3)|lung(3) 6 all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122) TTCCACAGGATGTTGCTCATG 0.617000 6 27 0 0 0.001168 0 0 PSD4 23550 broad.mit.edu 37 2 113943603 113943603 + Missense_Mutation SNP G G C TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 125ccb76-bf8d-4ce7-a04c-4424d6da0322 41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a g.chr2:113943603G>C ENST00000245796.6 + 5 1594 c.1399G>C c.(1399-1401)Gag>Cag p.E467Q PSD4_ENST00000441564.2_Missense_Mutation_p.E439Q NM_012455.2 NP_036587.2 Q8NDX1 PSD4_HUMAN pleckstrin and Sec7 domain containing 4 467 regulation of ARF protein signal transduction cytoplasm|plasma membrane ARF guanyl-nucleotide exchange factor activity cervix(1)|endometrium(2)|large_intestine(4)|lung(13)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 ATCGTCCCAGGAGGGCAGCCC 0.617000 8 59 0 0 0.003080 0 0 BZRAP1 9256 broad.mit.edu 37 17 56397485 56397485 + Silent SNP G G T TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 125ccb76-bf8d-4ce7-a04c-4424d6da0322 41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a g.chr17:56397485G>T ENST00000355701.3 - 12 2349 c.1479C>A c.(1477-1479)acC>acA p.T493T BZRAP1_ENST00000268893.6_Silent_p.T433T|BZRAP1_ENST00000343736.4_Silent_p.T493T NM_001261835.1|NM_004758.3 NP_001248764.1|NP_004749.2 O95153 RIMB1_HUMAN benzodiazapine receptor (peripheral) associated protein 1 493 mitochondrion benzodiazepine receptor binding cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 54 Medulloblastoma(34;0.127)|all_neural(34;0.237) TGGAATCCAAGGTAGACTGTT 0.592000 9 47 3.09899e-07 5.76797e-07 0.004482 1 0 AP3D1 8943 broad.mit.edu 37 19 2110168 2110168 + Silent SNP C C T TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 125ccb76-bf8d-4ce7-a04c-4424d6da0322 41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a g.chr19:2110168C>T ENST00000355272.6 - 28 3437 c.3231G>A c.(3229-3231)caG>caA p.Q1077Q AP3D1_ENST00000350812.6_Silent_p.Q846Q|AP3D1_ENST00000345016.5_Silent_p.Q1015Q|AP3D1_ENST00000356926.4_Silent_p.Q974Q NM_001261826.1 NP_001248755.1 O14617 AP3D1_HUMAN adaptor-related protein complex 3, delta 1 subunit 1015 eye pigment biosynthetic process|intracellular protein transport|regulation of sequestering of zinc ion|vesicle-mediated transport endosome membrane|Golgi membrane|membrane coat binding|protein transporter activity breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(23)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 37 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) CCTTGAGCTTCTGCGCCATGA 0.642000 9 39 0 0 0.006214 0 0 FLAD1 80308 broad.mit.edu 37 1 154956218 154956218 + Missense_Mutation SNP G G C TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 125ccb76-bf8d-4ce7-a04c-4424d6da0322 41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a g.chr1:154956218G>C ENST00000368433.1 + 1 391 c.48G>C c.(46-48)agG>agC p.R16S FLAD1_ENST00000292180.3_Missense_Mutation_p.R16S|FLAD1_ENST00000368431.3_Intron|FLAD1_ENST00000368432.1_Intron|FLAD1_ENST00000487371.1_Intron|FLAD1_ENST00000315144.10_Intron Q8NFF5 FAD1_HUMAN flavin adenine dinucleotide synthetase 1 16 FAD biosynthetic process|Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process cytosol ATP binding|FMN adenylyltransferase activity endometrium(3)|kidney(4)|large_intestine(2)|lung(7)|ovary(3)|skin(3) 22 all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877) BRCA - Breast invasive adenocarcinoma(34;0.00034) AGGAACAAAGGAGTCGCTTGT 0.478000 4 75 0 0 0.009096 0 0 GFI1B 8328 broad.mit.edu 37 9 135862790 135862790 + Missense_Mutation SNP G G C TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 125ccb76-bf8d-4ce7-a04c-4424d6da0322 41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a g.chr9:135862790G>C ENST00000339463.3 + 7 1041 c.222G>C c.(220-222)agG>agC p.R74S GFI1B_ENST00000534944.1_Missense_Mutation_p.R74S|GFI1B_ENST00000372123.1_Missense_Mutation_p.R74S|GFI1B_ENST00000372124.1_Missense_Mutation_p.R74S|GFI1B_ENST00000450530.1_Missense_Mutation_p.R74S|GFI1B_ENST00000372122.1_Missense_Mutation_p.R74S Q5VTD9 GFI1B_HUMAN growth factor independent 1B transcription repressor 74 cell proliferation|chromatin modification|multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription involved in G1 phase of mitotic cell cycle|transcription from RNA polymerase II promoter nucleus DNA binding|protein binding|zinc ion binding central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(1) 21 OV - Ovarian serous cystadenocarcinoma(145;9.04e-07)|Epithelial(140;1.17e-05) ACTTGGCCAGGATGGCCCCGG 0.617000 10 35 0 0 0.013537 0 0 CWC22 57703 broad.mit.edu 37 2 180838488 180838488 + Missense_Mutation SNP G G A TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 125ccb76-bf8d-4ce7-a04c-4424d6da0322 41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a g.chr2:180838488G>A ENST00000410053.3 - 7 922 c.623C>T c.(622-624)tCt>tTt p.S208F CWC22_ENST00000295749.6_Missense_Mutation_p.S208F NM_020943.2 NP_065994.1 Q9HCG8 CWC22_HUMAN CWC22 spliceosome-associated protein homolog (S. cerevisiae) 208 MIF4G. catalytic step 2 spliceosome protein binding|RNA binding NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(8)|liver(1)|lung(8)|stomach(1) 30 GAAGATTGGAGAAGCACTCTG 0.328000 7 50 0 0 0.004482 0 0 OR5F1 338674 broad.mit.edu 37 11 55761664 55761664 + Silent SNP G G A TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 125ccb76-bf8d-4ce7-a04c-4424d6da0322 41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a g.chr11:55761664G>A ENST00000278409.1 - 1 437 c.438C>T c.(436-438)gcC>gcT p.A146A NM_003697.1 NP_003688.1 O95221 OR5F1_HUMAN olfactory receptor, family 5, subfamily F, member 1 146 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(6)|kidney(1)|large_intestine(11)|liver(1)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 58 Esophageal squamous(21;0.00448) CAAAAGCCCCGGCTGCCATTT 0.502000 7 53 0 0 0.001984 0 0 RAC3 5881 broad.mit.edu 37 17 79991599 79991599 + Nonsense_Mutation SNP C C G TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 125ccb76-bf8d-4ce7-a04c-4424d6da0322 41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a g.chr17:79991599C>G ENST00000306897.4 + 6 611 c.473C>G c.(472-474)tCa>tGa p.S158* NM_005052.2 NP_005043.1 P60763 RAC3_HUMAN ras-related C3 botulinum toxin substrate 3 (rho family, small GTP binding protein Rac3) 158 actin cytoskeleton organization|cell projection assembly|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|endomembrane system|filamentous actin|growth cone|lamellipodium|neuronal cell body|plasma membrane GTP binding|GTPase activity|protein binding NS(1)|kidney(1)|skin(1) 3 all_neural(118;0.0878)|Ovarian(332;0.12)|all_lung(278;0.246) BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0191) CTGGAGTGCTCAGCCCTGACC 0.657000 9 43 0 0 0.004482 0 0 IGHA1 3493 broad.mit.edu 37 14 106174257 106174257 + RNA SNP C C G TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 125ccb76-bf8d-4ce7-a04c-4424d6da0322 41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a g.chr14:106174257C>G ENST00000390547.2 - 0 531 CCACAGAGGTCACGCTCAGGT 0.617000 4 24 0 0 0.009096 0 0 FRG1BP 284802 broad.mit.edu 37 20 29628236 29628236 + Missense_Mutation SNP G G C rs145412486 by1000genomes TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 125ccb76-bf8d-4ce7-a04c-4424d6da0322 41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a g.chr20:29628236G>C ENST00000278882.3 + 6 618 c.238G>C c.(238-240)Gct>Cct p.A80P FRG1B_ENST00000439954.2_Missense_Mutation_p.A85P|FRG1B_ENST00000358464.4_Missense_Mutation_p.A80P p.A80P(8) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 GGGGAAAATGGCTTTGTTGGC 0.363000 3 83 0 0 0.009096 0 0 ADCY6 112 broad.mit.edu 37 12 49165584 49165584 + Missense_Mutation SNP T T C TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 125ccb76-bf8d-4ce7-a04c-4424d6da0322 41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a g.chr12:49165584T>C ENST00000307885.4 - 18 3654 c.2960A>G c.(2959-2961)aAc>aGc p.N987S ADCY6_ENST00000550422.1_Missense_Mutation_p.N934S|ADCY6_ENST00000357869.3_Missense_Mutation_p.N934S NM_015270.3 NP_056085.1 O43306 ADCY6_HUMAN adenylate cyclase 6 987 activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport integral to membrane ATP binding|metal ion binding breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(16)|prostate(1)|skin(1)|urinary_tract(1) 29 CTCAGAGAAGTTGGCAATGGA 0.537000 9 56 0 0 0.004482 0 0 PKDREJ 10343 broad.mit.edu 37 22 46654045 46654045 + Silent SNP C C T TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 125ccb76-bf8d-4ce7-a04c-4424d6da0322 41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a g.chr22:46654045C>T ENST00000253255.5 - 1 5174 c.5175G>A c.(5173-5175)ttG>ttA p.L1725L NM_006071.1 NP_006062.1 Q9NTG1 PKDRE_HUMAN polycystin (PKD) family receptor for egg jelly 1725 acrosome reaction|neuropeptide signaling pathway integral to membrane calcium ion binding|ion channel activity NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2) 73 Ovarian(80;0.00965)|all_neural(38;0.0416) UCEC - Uterine corpus endometrioid carcinoma (28;0.00459) CGATAAGGATCAACAGAAGGG 0.383000 8 52 0 0 0.003080 0 0 COL11A1 1301 broad.mit.edu 37 1 103455092 103455092 + Missense_Mutation SNP C C G TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 125ccb76-bf8d-4ce7-a04c-4424d6da0322 41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a g.chr1:103455092C>G ENST00000358392.2 - 29 2729 c.2412G>C c.(2410-2412)atG>atC p.M804I COL11A1_ENST00000512756.1_Missense_Mutation_p.M676I|COL11A1_ENST00000370096.3_Missense_Mutation_p.M792I|COL11A1_ENST00000353414.4_Missense_Mutation_p.M753I NM_080629.2 NP_542196.2 P12107 COBA1_HUMAN collagen, type XI, alpha 1 792 Triple-helical region. collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception collagen type XI extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1) 258 all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181) Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248) CTTTTAGACCCATGTCACCTT 0.289000 4 55 0 0 0.000602 0 0 KANK1 23189 broad.mit.edu 37 9 711776 711776 + Missense_Mutation SNP G G A TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 125ccb76-bf8d-4ce7-a04c-4424d6da0322 41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a g.chr9:711776G>A ENST00000382303.1 + 7 1662 c.1010G>A c.(1009-1011)cGg>cAg p.R337Q KANK1_ENST00000382293.3_Missense_Mutation_p.R179Q|KANK1_ENST00000382297.2_Missense_Mutation_p.R337Q|KANK1_ENST00000489369.1_3'UTR NM_001256876.1 NP_001243805.1 Q14678 KANK1_HUMAN KN motif and ankyrin repeat domains 1 337 negative regulation of actin filament polymerization cytoplasm autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|stomach(4)|upper_aerodigestive_tract(1) 43 Lung NSC(10;9.84e-12)|all_lung(10;1.02e-11)|Breast(48;0.128) Epithelial(6;0.000153)|OV - Ovarian serous cystadenocarcinoma(1;0.000358)|Lung(218;0.0222) CAGCTCTCCCGGGCCCGAAGA 0.537000 8 91 0 0 0.006214 0 0 FCGBP 8857 broad.mit.edu 37 19 40366539 40366539 + Silent SNP C C T TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 125ccb76-bf8d-4ce7-a04c-4424d6da0322 41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a g.chr19:40366539C>T ENST00000221347.6 - 30 13702 c.13695G>A c.(13693-13695)caG>caA p.Q4565Q NM_003890.2 NP_003881.2 Q9Y6R7 FCGBP_HUMAN Fc fragment of IgG binding protein 4565 VWFD 11. extracellular region protein binding NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3) 165 all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06) Epithelial(26;6.25e-23)|all cancers(26;1.13e-20) GCGAGTCCAGCTGGAAAGGCA 0.677000 10 60 0 0 0.008291 0 0 BCL6B 255877 broad.mit.edu 37 17 6930392 6930392 + Missense_Mutation SNP G G C TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 125ccb76-bf8d-4ce7-a04c-4424d6da0322 41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a g.chr17:6930392G>C ENST00000293805.5 + 8 1401 c.1309G>C c.(1309-1311)Gag>Cag p.E437Q NM_181844.3 NP_862827.1 Q8N143 BCL6B_HUMAN B-cell CLL/lymphoma 6, member B 437 nucleus zinc ion binding skin(1) 1 CCACACCGGAGAGAAGCCTTA 0.632000 4 61 0 0 0.009096 0 0 PLAUR 5329 broad.mit.edu 37 19 44160641 44160641 + Silent SNP T T C TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 125ccb76-bf8d-4ce7-a04c-4424d6da0322 41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a g.chr19:44160641T>C ENST00000221264.4 - 4 888 c.462A>G c.(460-462)gaA>gaG p.E154E PLAUR_ENST00000601723.1_Silent_p.E154E|PLAUR_ENST00000339082.3_Silent_p.E154E|PLAUR_ENST00000340093.3_Silent_p.E154E NM_001005377.2 NP_001005377.1 Q03405 UPAR_HUMAN plasminogen activator, urokinase receptor 154 UPAR/Ly6 2. attachment of GPI anchor to protein|blood coagulation|C-terminal protein lipidation|cellular component movement|chemotaxis|fibrinolysis|regulation of proteolysis anchored to membrane|cell surface|endoplasmic reticulum lumen|endoplasmic reticulum membrane|extracellular region|extrinsic to membrane|integral to membrane|plasma membrane enzyme binding|U-plasminogen activator receptor activity endometrium(1)|kidney(4)|large_intestine(5)|lung(5)|ovary(1)|stomach(1)|urinary_tract(3) 20 Prostate(69;0.0153) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Streptokinase(DB00086)|Tenecteplase(DB00031)|Urokinase(DB00013) CTTCTTCACCTTCCTGGATCC 0.577000 23 119 0 0 0.003954 0 0 KIAA0753 9851 broad.mit.edu 37 17 6510503 6510503 + Missense_Mutation SNP C C G TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 125ccb76-bf8d-4ce7-a04c-4424d6da0322 41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a g.chr17:6510503C>G ENST00000361413.3 - 11 2275 c.1917G>C c.(1915-1917)caG>caC p.Q639H KIAA0753_ENST00000572370.1_Missense_Mutation_p.Q340H|KIAA0753_ENST00000542606.1_Missense_Mutation_p.Q340H|KIAA0753_ENST00000589033.1_Missense_Mutation_p.Q95H NM_014804.2 NP_055619.2 Q2KHM9 K0753_HUMAN KIAA0753 639 centrosome endometrium(4)|large_intestine(11)|lung(5)|prostate(4) 24 COAD - Colon adenocarcinoma(228;0.157) ATATTTACCTCTGTTTTTGCA 0.373000 20 167 0 0 0.012319 0 0 PROM2 150696 broad.mit.edu 37 2 95941259 95941259 + Splice_Site SNP G G T TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 125ccb76-bf8d-4ce7-a04c-4424d6da0322 41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a g.chr2:95941259G>T ENST00000317620.9 + 2 427 c.e2+1 PROM2_ENST00000403131.2_Splice_Site|PROM2_ENST00000542147.1_Splice_Site|PROM2_ENST00000317668.4_Splice_Site|PROM2_ENST00000463580.1_Intron NM_001165978.1 NP_001159450.1 Q8N271 PROM2_HUMAN prominin 2 apical plasma membrane|basolateral plasma membrane|cilium membrane|integral to membrane|microvillus membrane breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(12)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1) 32 GGTGAATGAGGTGAGCAAGCT 0.602000 5 45 0.00116845 0.00205668 0.001168 1 0 DCDC2 51473 broad.mit.edu 37 6 24205370 24205370 + Missense_Mutation SNP G G T TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 125ccb76-bf8d-4ce7-a04c-4424d6da0322 41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a g.chr6:24205370G>T ENST00000378450.3 - 1 161 c.142C>A c.(142-144)Caa>Aaa p.Q48K DCDC2_ENST00000378454.3_Intron Q9UHG0 DCDC2_HUMAN doublecortin domain containing 2 76 Doublecortin 1. cellular defense response|intracellular signal transduction|neuron migration breast(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 32 Ovarian(999;0.101) AAATCCAATTGTGACATCGTG 0.403000 8 143 1.06961e-07 2.00038e-07 0.003080 1 0 USH2A 7399 broad.mit.edu 37 1 215823958 215823958 + Silent SNP G G A TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 125ccb76-bf8d-4ce7-a04c-4424d6da0322 41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a g.chr1:215823958G>A ENST00000366943.2 - 65 14705 c.14319C>T c.(14317-14319)agC>agT p.S4773S USH2A_ENST00000307340.3_Silent_p.S4773S O75445 USH2A_HUMAN Usher syndrome 2A (autosomal recessive, mild) 4773 Fibronectin type-III 33. maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound basement membrane|cytoplasm|integral to membrane|stereocilium membrane collagen binding NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3) 527 OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875) CATGGGCGCTGCTGGAGAACA 0.493000 HNSCC(13;0.011) 15 88 0 0 0.003163 0 0 PKDREJ 10343 broad.mit.edu 37 22 46654407 46654407 + Missense_Mutation SNP C C G TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 125ccb76-bf8d-4ce7-a04c-4424d6da0322 41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a g.chr22:46654407C>G ENST00000253255.5 - 1 4812 c.4813G>C c.(4813-4815)Gac>Cac p.D1605H NM_006071.1 NP_006062.1 Q9NTG1 PKDRE_HUMAN polycystin (PKD) family receptor for egg jelly 1605 acrosome reaction|neuropeptide signaling pathway integral to membrane calcium ion binding|ion channel activity NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2) 73 Ovarian(80;0.00965)|all_neural(38;0.0416) UCEC - Uterine corpus endometrioid carcinoma (28;0.00459) ATTGACTTGTCATAGCCGTAA 0.393000 6 53 0 0 0.001168 0 0 BRCA2 675 broad.mit.edu 37 13 32972546 32972546 + Missense_Mutation SNP A A G TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 125ccb76-bf8d-4ce7-a04c-4424d6da0322 41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a g.chr13:32972546A>G ENST00000544455.1 + 27 10123 c.9896A>G c.(9895-9897)cAg>cGg p.Q3299R BRCA2_ENST00000380152.3_Missense_Mutation_p.Q3299R NM_000059.3 NP_000050.2 P51587 BRCA2_HUMAN breast cancer 2, early onset 3299 cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3) 183 Lung SC(185;0.0262) all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704) AAGGCATTTCAGCCACCAAGG 0.398000 """D, Mis, N, F, S""" """breast, ovarian, pancreatic""" """breast, ovarian, pancreatic, leukemia (FANCB, FANCD1)""" Homologous recombination Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia TCGA Ovarian(8;0.087) 3 93 0 0 0.004672 0 0 C12orf54 121273 broad.mit.edu 37 12 48888620 48888620 + Silent SNP G G A TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 125ccb76-bf8d-4ce7-a04c-4424d6da0322 41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a g.chr12:48888620G>A ENST00000314014.2 + 8 413 c.282G>A c.(280-282)ttG>ttA p.L94L C12orf54_ENST00000548364.1_Silent_p.L94L|RP11-722P11.4_ENST00000551847.1_RNA NM_152319.3 NP_689532.1 Q6X4T0 CL054_HUMAN chromosome 12 open reading frame 54 94 endometrium(1)|large_intestine(4) 5 CCCCAAAGTTGAGAAGATTGC 0.483000 11 120 0 0 0.010729 0 0 NCOR2 9612 broad.mit.edu 37 12 124832798 124832798 + Missense_Mutation SNP C C T TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 125ccb76-bf8d-4ce7-a04c-4424d6da0322 41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a g.chr12:124832798C>T ENST00000356219.3 - 30 4083 c.3928G>A c.(3928-3930)Gag>Aag p.E1310K NCOR2_ENST00000429285.2_Missense_Mutation_p.E1293K|NCOR2_ENST00000405201.1_Missense_Mutation_p.E1303K|NCOR2_ENST00000404621.1_Missense_Mutation_p.E1293K|NCOR2_ENST00000404121.2_Missense_Mutation_p.E864K|NCOR2_ENST00000397355.1_Missense_Mutation_p.E1294K NM_006312.5 NP_006303.4 Q9Y618 NCOR2_HUMAN nuclear receptor corepressor 2 1311 cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent nuclear body|nucleus|transcriptional repressor complex DNA binding|histone deacetylase binding|Notch binding|protein N-terminus binding|transcription corepressor activity breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 69 all_neural(191;0.0804)|Medulloblastoma(191;0.163) Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764) GCGGCCGTCTCATGGGGGGGT 0.622000 OREG0022238 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 10 61 0 0 0.010729 0 0 VPS13C 54832 broad.mit.edu 37 15 62256970 62256970 + Missense_Mutation SNP G G C TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 125ccb76-bf8d-4ce7-a04c-4424d6da0322 41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a g.chr15:62256970G>C ENST00000261517.5 - 31 3215 c.3142C>G c.(3142-3144)Caa>Gaa p.Q1048E VPS13C_ENST00000249837.3_Missense_Mutation_p.Q1005E|VPS13C_ENST00000395898.3_Missense_Mutation_p.Q1005E|VPS13C_ENST00000395896.4_Missense_Mutation_p.Q1048E NM_020821.2 NP_065872.1 Q709C8 VP13C_HUMAN vacuolar protein sorting 13 homolog C (S. cerevisiae) 1048 protein localization NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 117 CTTATGCTTTGATCATCAGAT 0.328000 22 57 0 0 0.014323 0 0 PPP1R16B 26051 broad.mit.edu 37 20 37524339 37524339 + Missense_Mutation SNP G G C TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 125ccb76-bf8d-4ce7-a04c-4424d6da0322 41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a g.chr20:37524339G>C ENST00000299824.1 + 4 642 c.453G>C c.(451-453)aaG>aaC p.K151N PPP1R16B_ENST00000373331.2_Missense_Mutation_p.K151N NM_015568.2 NP_056383.1 Q96T49 PP16B_HUMAN protein phosphatase 1, regulatory subunit 16B 151 regulation of filopodium assembly|signal transduction nucleus|plasma membrane protein phosphatase binding biliary_tract(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(23)|prostate(2)|skin(4)|upper_aerodigestive_tract(2) 49 Myeloproliferative disorder(115;0.00878) ACCTGGTGAAGATCCTCGTTC 0.577000 5 25 0 0 0.000602 0 0 KCNB2 9312 broad.mit.edu 37 8 73849039 73849039 + Silent SNP C C T TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 125ccb76-bf8d-4ce7-a04c-4424d6da0322 41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a g.chr8:73849039C>T ENST00000523207.1 + 3 2037 c.1449C>T c.(1447-1449)gaC>gaT p.D483D NM_004770.2 NP_004761.2 Q92953 KCNB2_HUMAN potassium voltage-gated channel, Shab-related subfamily, member 2 483 regulation of smooth muscle contraction voltage-gated potassium channel complex delayed rectifier potassium channel activity|protein binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1) 85 Breast(64;0.137) Epithelial(68;0.105) ACTCCGCCGACGATAATCACC 0.512000 13 111 0 0 0.001855 0 0 RSRC2 65117 broad.mit.edu 37 12 122991393 122991393 + Silent SNP C C T TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 125ccb76-bf8d-4ce7-a04c-4424d6da0322 41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a g.chr12:122991393C>T ENST00000331738.7 - 9 1258 c.1113G>A c.(1111-1113)ttG>ttA p.L371L RSRC2_ENST00000354654.2_Silent_p.L323L|RSRC2_ENST00000392442.2_5'UTR NM_023012.5 NP_075388.2 Q7L4I2 RSRC2_HUMAN arginine/serine-rich coiled-coil 2 371 breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|skin(2)|urinary_tract(2) 24 all_neural(191;0.0837)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;5.14e-05)|Epithelial(86;0.000183)|BRCA - Breast invasive adenocarcinoma(302;0.201) TAATACCCATCAATTTCCTAA 0.368000 12 116 0 0 0.003163 0 0 PCDH15 65217 broad.mit.edu 37 10 55955577 55955577 + Translation_Start_Site SNP G G C TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 125ccb76-bf8d-4ce7-a04c-4424d6da0322 41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a g.chr10:55955577G>C ENST00000409834.1 - 0 558 PCDH15_ENST00000414778.1_Missense_Mutation_p.Q396E|PCDH15_ENST00000437009.1_Missense_Mutation_p.Q391E|PCDH15_ENST00000320301.6_Missense_Mutation_p.Q391E|PCDH15_ENST00000395446.1_Missense_Mutation_p.Q391E|PCDH15_ENST00000361849.3_Missense_Mutation_p.Q391E|PCDH15_ENST00000395440.1_Missense_Mutation_p.Q391E|PCDH15_ENST00000373957.3_Missense_Mutation_p.Q369E|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000373955.1_Missense_Mutation_p.Q391E|PCDH15_ENST00000395430.1_Missense_Mutation_p.Q391E|PCDH15_ENST00000395438.1_Missense_Mutation_p.Q391E|PCDH15_ENST00000395445.1_Missense_Mutation_p.Q391E|PCDH15_ENST00000395432.2_Missense_Mutation_p.Q354E|PCDH15_ENST00000373965.2_Missense_Mutation_p.Q391E|PCDH15_ENST00000395433.1_Missense_Mutation_p.Q369E Q96QU1 PCD15_HUMAN protocadherin-related 15 equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse calcium ion binding NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1) 237 Melanoma(3;0.117)|Lung SC(717;0.238) TATGGACTTTGATTGTTTTCA 0.393000 HNSCC(58;0.16) 6 47 0 0 0.003080 0 0 PRAMEF11 440560 broad.mit.edu 37 1 12887265 12887265 + Missense_Mutation SNP C C T TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 125ccb76-bf8d-4ce7-a04c-4424d6da0322 41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a g.chr1:12887265C>T ENST00000535591.1 - 3 787 c.592G>A c.(592-594)Gtt>Att p.V198I NM_001146344.1 NP_001139816.1 O60813 PRA11_HUMAN PRAME family member 11 198 NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1) 27 TGGGAGAGAACGAGCTTCTGA 0.517000 12 458 0 0 0.013537 0 0 TP53BP2 7159 broad.mit.edu 37 1 223987709 223987709 + Translation_Start_Site SNP T T A TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 125ccb76-bf8d-4ce7-a04c-4424d6da0322 41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a g.chr1:223987709T>A ENST00000391879.2 - 0 67 TP53BP2_ENST00000343537.7_Missense_Mutation_p.K459N|TP53BP2_ENST00000391878.2_Missense_Mutation_p.K330N|TP53BP2_ENST00000498843.1_5'UTR Q13625 ASPP2_HUMAN tumor protein p53 binding protein, 2 apoptosis|cell cycle|induction of apoptosis|negative regulation of cell cycle|signal transduction nucleus|perinuclear region of cytoplasm NF-kappaB binding|protein binding|SH3 domain binding|SH3/SH2 adaptor activity NS(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(2) 29 GBM - Glioblastoma multiforme(131;0.0958) ACGGACGCACTTTCTTCTCTT 0.428000 5 51 0 0 0.000602 0 0 CHEK2 11200 broad.mit.edu 37 22 29121060 29121060 + Missense_Mutation SNP T T C TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 125ccb76-bf8d-4ce7-a04c-4424d6da0322 41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a g.chr22:29121060T>C ENST00000382580.2 - 5 701 c.626A>G c.(625-627)aAt>aGt p.N209S CHEK2_ENST00000328354.6_Missense_Mutation_p.N166S|CHEK2_ENST00000404276.1_Missense_Mutation_p.N166S|CHEK2_ENST00000348295.3_Missense_Mutation_p.N166S|CHEK2_ENST00000405598.1_Missense_Mutation_p.N166S|CHEK2_ENST00000382578.1_Intron|CHEK2_ENST00000544772.1_5'UTR|CHEK2_ENST00000403642.1_Intron|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000382566.1_Missense_Mutation_p.N166S|CHEK2_ENST00000402731.1_Missense_Mutation_p.N166S NM_001005735.1 NP_001005735.1 O96017 CHK2_HUMAN checkpoint kinase 2 166 cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence PML body ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2) 50 AAAGGTTCCATTGCCACTGTG 0.353000 F breast Direct reversal of damage;Other conserved DNA damage response genes 6 76 0 0 0.001984 0 0 UNC13B 10497 broad.mit.edu 37 9 35231142 35231142 + Silent SNP G G A TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 125ccb76-bf8d-4ce7-a04c-4424d6da0322 41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a g.chr9:35231142G>A ENST00000378495.3 + 3 300 c.78G>A c.(76-78)ctG>ctA p.L26L UNC13B_ENST00000396787.1_Silent_p.L26L|UNC13B_ENST00000378496.4_Silent_p.L26L NM_006377.3 NP_006368.3 O14795 UN13B_HUMAN unc-13 homolog B (C. elegans) 26 C2 1. excretion|induction of apoptosis|intracellular signal transduction cell junction|Golgi apparatus|synapse metal ion binding|receptor activity breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(16)|liver(2)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1) 63 all_epithelial(49;0.212) LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)|STAD - Stomach adenocarcinoma(86;0.194) ATGTGACCCTGAAAGTACAGA 0.393000 5 33 0 0 0.000602 0 0 ARID1B 57492 broad.mit.edu 37 6 157505453 157505453 + Missense_Mutation SNP A A G TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 125ccb76-bf8d-4ce7-a04c-4424d6da0322 41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a g.chr6:157505453A>G ENST00000346085.5 + 13 3435 c.3434A>G c.(3433-3435)tAt>tGt p.Y1145C ARID1B_ENST00000367148.1_Missense_Mutation_p.Y1185C|ARID1B_ENST00000350026.5_Missense_Mutation_p.Y1132C|ARID1B_ENST00000275248.4_Missense_Mutation_p.Y1127C NM_020732.3 NP_065783.3 Q8NFD5 ARI1B_HUMAN AT rich interactive domain 1B (SWI1-like) 1132 chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent SWI/SNF complex DNA binding|protein binding|transcription coactivator activity NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3) 81 Breast(66;0.000162)|Ovarian(120;0.0265) OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05) AAAAAGCAGTATATTCAGTAC 0.517000 13 53 0 0 0.002450 0 0 CPT1B 1375 broad.mit.edu 37 22 51010730 51010730 + Missense_Mutation SNP C C G TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 125ccb76-bf8d-4ce7-a04c-4424d6da0322 41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a g.chr22:51010730C>G ENST00000360719.2 - 12 1497 c.1360G>C c.(1360-1362)Gac>Cac p.D454H CHKB-CPT1B_ENST00000453634.1_3'UTR|CPT1B_ENST00000434492.2_Missense_Mutation_p.D251H|CPT1B_ENST00000440709.1_Missense_Mutation_p.D373H|CPT1B_ENST00000457250.1_Missense_Mutation_p.D420H|CPT1B_ENST00000312108.7_Missense_Mutation_p.D454H|CPT1B_ENST00000405237.3_Missense_Mutation_p.D454H|CPT1B_ENST00000395650.2_Missense_Mutation_p.D454H NM_001145135.1|NM_152245.2 NP_001138607.1|NP_689451.1 Q92523 CPT1B_HUMAN carnitine palmitoyltransferase 1B (muscle) 454 carnitine shuttle|fatty acid beta-oxidation|regulation of fatty acid oxidation integral to membrane|mitochondrial outer membrane carnitine O-palmitoyltransferase activity central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 22 all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113) all cancers(3;3.56e-77)|OV - Ovarian serous cystadenocarcinoma(4;5.39e-74)|Epithelial(4;5.58e-70)|GBM - Glioblastoma multiforme(4;5.59e-08)|LUAD - Lung adenocarcinoma(64;0.0016)|Lung(4;0.00942)|BRCA - Breast invasive adenocarcinoma(115;0.207) AAGGATTTGTCAAACCACCTG 0.507000 6 38 0 0 0.001168 0 0 TSC2 7249 broad.mit.edu 37 16 2098710 2098710 + Missense_Mutation SNP G G C TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 125ccb76-bf8d-4ce7-a04c-4424d6da0322 41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a g.chr16:2098710G>C ENST00000219476.3 + 2 724 c.94G>C c.(94-96)Gag>Cag p.E32Q TSC2_ENST00000382538.6_Intron|TSC2_ENST00000401874.2_Missense_Mutation_p.E32Q|TSC2_ENST00000353929.4_Missense_Mutation_p.E32Q|TSC2_ENST00000350773.4_Missense_Mutation_p.E32Q|TSC2_ENST00000568454.1_Missense_Mutation_p.E43Q|TSC2_ENST00000439673.2_Missense_Mutation_p.E32Q NM_000548.3 NP_000539.2 P49815 TSC2_HUMAN tuberous sclerosis 2 32 Required for interaction with TSC1. cell cycle arrest|endocytosis|heart development|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|negative regulation of cell size|negative regulation of phosphatidylinositol 3-kinase cascade|negative regulation of protein kinase B signaling cascade|negative regulation of TOR signaling cascade|negative regulation of Wnt receptor signaling pathway|nerve growth factor receptor signaling pathway|neural tube closure|phosphatidylinositol-mediated signaling|positive chemotaxis|protein import into nucleus|protein kinase B signaling cascade|regulation of endocytosis|regulation of insulin receptor signaling pathway|regulation of small GTPase mediated signal transduction Golgi apparatus|nucleus|perinuclear region of cytoplasm|TSC1-TSC2 complex GTPase activator activity|protein homodimerization activity NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(3)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|soft_tissue(1) 56 Hepatocellular(780;0.0202) CAGGTCTGCAGAGGGTAAACA 0.502000 """D, Mis, N, F, S""" """hamartoma, renal cell""" Tuberous Sclerosis 9 89 0 0 0.004482 0 0 SLC4A3 6508 broad.mit.edu 37 2 220496825 220496825 + Missense_Mutation SNP G G A TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 125ccb76-bf8d-4ce7-a04c-4424d6da0322 41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a g.chr2:220496825G>A ENST00000358055.3 + 7 1459 c.947G>A c.(946-948)cGg>cAg p.R316Q SLC4A3_ENST00000373762.3_Missense_Mutation_p.R343Q|SLC4A3_ENST00000317151.3_Missense_Mutation_p.R316Q|SLC4A3_ENST00000373760.2_Missense_Mutation_p.R316Q|SLC4A3_ENST00000273063.6_Missense_Mutation_p.R343Q|SLC4A3_ENST00000497589.1_3'UTR P48751 B3A3_HUMAN solute carrier family 4 (anion exchanger), member 3 316 bicarbonate transport integral to plasma membrane|membrane fraction inorganic anion exchanger activity p.R343Q(2) breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(2) 51 Renal(207;0.0183) Epithelial(149;2.53e-07)|all cancers(144;5.57e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) AAGCTGGACCGGAGGCCTCAT 0.652000 4 54 0 0 0.009096 0 0 GP5 2814 broad.mit.edu 37 3 194118031 194118031 + Silent SNP C C G TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 125ccb76-bf8d-4ce7-a04c-4424d6da0322 41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a g.chr3:194118031C>G ENST00000401815.1 - 1 1052 c.981G>C c.(979-981)ctG>ctC p.L327L GP5_ENST00000323007.3_Silent_p.L327L P40197 GPV_HUMAN glycoprotein V (platelet) 327 blood coagulation, intrinsic pathway|cell adhesion|platelet activation integral to plasma membrane breast(3)|central_nervous_system(2)|endometrium(2)|large_intestine(9)|lung(14)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1) 35 all_cancers(143;6.64e-09)|Ovarian(172;0.0634) Melanoma(1037;0.211) OV - Ovarian serous cystadenocarcinoma(49;7.38e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06) GBM - Glioblastoma multiforme(46;4.06e-05) GAAGCGCGCTCAGCCGCGGGC 0.726000 3 22 0 0 0.009096 0 0 ZNF77 58492 broad.mit.edu 37 19 2934164 2934164 + Missense_Mutation SNP C C G TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 125ccb76-bf8d-4ce7-a04c-4424d6da0322 41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a g.chr19:2934164C>G ENST00000314531.4 - 4 1053 c.961G>C c.(961-963)Gag>Cag p.E321Q NM_021217.2 NP_067040.1 Q15935 ZNF77_HUMAN zinc finger protein 77 321 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleolus DNA binding|zinc ion binding breast(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(5)|ovary(1) 17 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|GBM - Glioblastoma multiforme(1328;2.11e-07)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|Lung(535;0.174)|STAD - Stomach adenocarcinoma(1328;0.18) CAGGGTTTCTCTCCAGTGTGC 0.458000 9 91 0 0 0.004482 0 0 SCGB1D1 10648 broad.mit.edu 37 11 61957758 61957758 + Translation_Start_Site SNP T T C TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 125ccb76-bf8d-4ce7-a04c-4424d6da0322 41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a g.chr11:61957758T>C ENST00000306238.3 + 1 71 c.2T>C c.(1-3)aTg>aCg p.M1T NM_006552.1 NP_006543.1 O95968 SG1D1_HUMAN secretoglobin, family 1D, member 1 1 extracellular space binding endometrium(1)|large_intestine(2)|lung(4)|skin(1)|stomach(1) 9 TAAGCCACCATGAGGCTGTCG 0.577000 3 57 0 0 0.004672 0 0 TMEM196 256130 broad.mit.edu 37 7 19765219 19765219 + Missense_Mutation SNP C C A TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 125ccb76-bf8d-4ce7-a04c-4424d6da0322 41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a g.chr7:19765219C>A ENST00000405844.1 - 3 1072 c.377G>T c.(376-378)tGt>tTt p.C126F TMEM196_ENST00000405764.3_Missense_Mutation_p.C126F|TMEM196_ENST00000422233.1_Missense_Mutation_p.C58F|TMEM196_ENST00000433641.1_Missense_Mutation_p.C58F|TMEM196_ENST00000493519.1_Missense_Mutation_p.C58F Q5HYL7 TM196_HUMAN transmembrane protein 196 132 integral to membrane breast(1)|large_intestine(1)|lung(4) 6 GGCTAGTCGACAAGTGAGCCA 0.498000 11 52 6.40141e-05 0.000115821 0.010729 1 0 ARHGEF6 9459 broad.mit.edu 37 X 135862907 135862907 + Silent SNP G G A TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 125ccb76-bf8d-4ce7-a04c-4424d6da0322 41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a g.chrX:135862907G>A ENST00000250617.6 - 1 1340 c.135C>T c.(133-135)atC>atT p.I45I NM_004840.2 NP_004831.1 Q15052 ARHG6_HUMAN Rac/Cdc42 guanine nucleotide exchange factor (GEF) 6 45 CH. apoptosis|cell junction assembly|induction of apoptosis by extracellular signals|JNK cascade|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity|Rho guanyl-nucleotide exchange factor activity cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(1)|lung(14)|prostate(1) 38 Acute lymphoblastic leukemia(192;0.000127) TGAGTCTGTTGATCAGTTTGC 0.433000 9 114 0 0 0.006214 0 0 ITGAM 3684 broad.mit.edu 37 16 31282283 31282283 + Missense_Mutation SNP C C G TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 125ccb76-bf8d-4ce7-a04c-4424d6da0322 41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a g.chr16:31282283C>G ENST00000544665.3 + 6 507 c.436C>G c.(436-438)Caa>Gaa p.Q146E ITGAM_ENST00000287497.8_Missense_Mutation_p.Q146E NM_000632.3|NM_001145808.1 NP_000623.2|NP_001139280.1 P11215 ITAM_HUMAN integrin, alpha M (complement component 3 receptor 3 subunit) 146 blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration integrin complex glycoprotein binding|receptor activity endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(1)|prostate(4)|skin(1) 56 AGGGTGTCCTCAAGAGGATAG 0.453000 42 216 0 0 0.010771 0 0 SI 6476 broad.mit.edu 37 3 164776814 164776814 + Missense_Mutation SNP C C G TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 125ccb76-bf8d-4ce7-a04c-4424d6da0322 41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a g.chr3:164776814C>G ENST00000264382.3 - 12 1397 c.1335G>C c.(1333-1335)gaG>gaC p.E445D NM_001041.3 NP_001032.2 P14410 SUIS_HUMAN sucrase-isomaltase (alpha-glucosidase) 445 Isomaltase. carbohydrate metabolic process|polysaccharide digestion apical plasma membrane|brush border|Golgi apparatus|integral to membrane carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1) 218 Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199) Acarbose(DB00284) TGTTTCCCCTCTCATAGGTTG 0.363000 HNSCC(35;0.089) 3 48 0 0 0.004672 0 0 MNDA 4332 broad.mit.edu 37 1 158817562 158817562 + Silent SNP T T C TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 125ccb76-bf8d-4ce7-a04c-4424d6da0322 8e550489-3da4-4a0f-8c20-b649aa5e7648 g.chr1:158817562T>C ENST00000368141.4 + 6 1293 c.1032T>C c.(1030-1032)aaT>aaC p.N344N NM_002432.1 NP_002423.1 P41218 MNDA_HUMAN myeloid cell nuclear differentiation antigen 344 HIN-200. B cell receptor signaling pathway|cellular defense response|negative regulation of B cell proliferation|positive regulation of apoptosis|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent cytoplasm|nucleus DNA binding NS(2)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(1)|lung(26)|ovary(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 65 all_hematologic(112;0.0378) TACAGGATAATACAGGATCCA 0.378000 12 73 0 0 0.001368 0 0 BEND2 139105 broad.mit.edu 37 X 18192280 18192280 + Silent SNP A A C TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 125ccb76-bf8d-4ce7-a04c-4424d6da0322 8e550489-3da4-4a0f-8c20-b649aa5e7648 g.chrX:18192280A>C ENST00000380033.4 - 12 1983 c.1851T>G c.(1849-1851)tcT>tcG p.S617S BEND2_ENST00000380030.3_Silent_p.S526S NM_153346.4 NP_699177.2 Q8NDZ0 BEND2_HUMAN BEN domain containing 2 617 NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(11)|liver(1)|lung(21)|ovary(3)|prostate(1) 49 GAAACATCCAAGAACAGCCTT 0.438000 25 58 0 0 0.003954 0 0 ZNF644 84146 broad.mit.edu 37 1 91404992 91404992 + Missense_Mutation SNP G G C TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 125ccb76-bf8d-4ce7-a04c-4424d6da0322 8e550489-3da4-4a0f-8c20-b649aa5e7648 g.chr1:91404992G>C ENST00000370440.1 - 3 2136 c.1919C>G c.(1918-1920)aCt>aGt p.T640S ZNF644_ENST00000337393.5_Missense_Mutation_p.T640S|ZNF644_ENST00000361321.5_Intron|ZNF644_ENST00000347275.5_Intron|ZNF644_ENST00000467231.1_Intron Q9H582 ZN644_HUMAN zinc finger protein 644 640 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(4)|endometrium(2)|large_intestine(10)|lung(21)|ovary(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2) 47 all_lung(203;0.00206)|Lung NSC(277;0.0519)|Lung SC(238;0.101) all cancers(265;0.00102)|Epithelial(280;0.00766)|KIRC - Kidney renal clear cell carcinoma(1967;0.147)|OV - Ovarian serous cystadenocarcinoma(397;0.173) TAATGTTTTAGTGCTATCACT 0.348000 3 112 0 0 0.004672 0 0 GPR3 2827 broad.mit.edu 37 1 27721255 27721255 + Missense_Mutation SNP C C T TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 125ccb76-bf8d-4ce7-a04c-4424d6da0322 8e550489-3da4-4a0f-8c20-b649aa5e7648 g.chr1:27721255C>T ENST00000374024.3 + 2 1052 c.953C>T c.(952-954)tCc>tTc p.S318F NM_005281.2 NP_005272.1 P46089 GPR3_HUMAN G protein-coupled receptor 3 318 activation of adenylate cyclase activity by G-protein signaling pathway integral to plasma membrane endometrium(3)|lung(3)|ovary(1)|skin(1) 8 Breast(348;1.53e-05)|Ovarian(437;0.0606)|all_lung(284;0.157) UCEC - Uterine corpus endometrioid carcinoma (279;0.0415)|OV - Ovarian serous cystadenocarcinoma(117;2.81e-26)|Colorectal(126;1.24e-08)|KIRC - Kidney renal clear cell carcinoma(1967;3.23e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;4.45e-06)|Lung(427;0.00163)|STAD - Stomach adenocarcinoma(196;0.00303)|LUSC - Lung squamous cell carcinoma(448;0.008)|READ - Rectum adenocarcinoma(331;0.0419) TGTTCCTCTTCCAAGATCCCC 0.527000 26 156 0 0 0.007291 0 0 STK33 65975 broad.mit.edu 37 11 8414087 8414087 + Silent SNP G G A TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 125ccb76-bf8d-4ce7-a04c-4424d6da0322 8e550489-3da4-4a0f-8c20-b649aa5e7648 g.chr11:8414087G>A ENST00000447869.1 - 12 2433 c.1515C>T c.(1513-1515)ggC>ggT p.G505G STK33_ENST00000396673.1_Silent_p.G439G|STK33_ENST00000534493.1_Silent_p.G464G|STK33_ENST00000358872.3_Silent_p.G318G|STK33_ENST00000315204.1_Silent_p.G505G|STK33_ENST00000473980.1_5'UTR|STK33_ENST00000396672.1_Silent_p.G505G Q9BYT3 STK33_HUMAN serine/threonine kinase 33 505 Golgi apparatus|nucleus|perinuclear region of cytoplasm ATP binding|protein serine/threonine kinase activity NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|skin(3) 23 Epithelial(150;2.13e-06)|BRCA - Breast invasive adenocarcinoma(625;0.239) TGGACAGGGCGCCGGATTTAG 0.483000 34 201 0 0 0.004289 0 0 OR4K15 81127 broad.mit.edu 37 14 20443780 20443780 + Missense_Mutation SNP G G A TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 125ccb76-bf8d-4ce7-a04c-4424d6da0322 8e550489-3da4-4a0f-8c20-b649aa5e7648 g.chr14:20443780G>A ENST00000305051.5 + 1 178 c.103G>A c.(103-105)Gaa>Aaa p.E35K NM_001005486.1 NP_001005486.1 Q8NH41 OR4KF_HUMAN olfactory receptor, family 4, subfamily K, member 15 35 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(3)|kidney(2)|large_intestine(6)|lung(23)|ovary(1)|prostate(2)|skin(1)|stomach(1) 39 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;3.58e-06) GBM - Glioblastoma multiforme(265;0.00327) TCGGGTGACAGAATTTGTGTT 0.398000 12 101 0 0 0.001368 0 0 NTM 50863 broad.mit.edu 37 11 132016253 132016253 + Nonsense_Mutation SNP G G A TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 125ccb76-bf8d-4ce7-a04c-4424d6da0322 8e550489-3da4-4a0f-8c20-b649aa5e7648 g.chr11:132016253G>A ENST00000374786.1 + 2 724 c.245G>A c.(244-246)tGg>tAg p.W82* NTM_ENST00000374784.1_Nonsense_Mutation_p.W82*|NTM_ENST00000427481.2_Nonsense_Mutation_p.W73*|NTM_ENST00000425719.2_Nonsense_Mutation_p.W82*|NTM_ENST00000374791.3_Nonsense_Mutation_p.W82*|NTM_ENST00000539799.1_Nonsense_Mutation_p.W82* NM_001144058.1|NM_016522.2 NP_001137530.1|NP_057606.1 Q9P121 NTRI_HUMAN neurotrimin 82 Ig-like C2-type 1. cell adhesion|neuron recognition anchored to membrane|plasma membrane breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(9)|lung(30)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 56 AATGACAAGTGGTGCCTGGAT 0.567000 14 61 0 0 0.003163 0 0 IRF1 3659 broad.mit.edu 37 5 131819736 131819736 + Silent SNP G G A TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 125ccb76-bf8d-4ce7-a04c-4424d6da0322 8e550489-3da4-4a0f-8c20-b649aa5e7648 g.chr5:131819736G>A ENST00000245414.4 - 10 1143 c.885C>T c.(883-885)ttC>ttT p.F295F IRF1_ENST00000405885.2_Silent_p.F295F NM_002198.2 NP_002189.1 P10914 IRF1_HUMAN interferon regulatory factor 1 295 blood coagulation|cellular response to mechanical stimulus|interferon-gamma-mediated signaling pathway|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway nucleoplasm cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(2)|prostate(2)|skin(1)|urinary_tract(1) 11 all_cancers(142;0.026)|Breast(839;0.198) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) LUAD - Lung adenocarcinoma(142;0.247) TCAGATCTGTGAAGACACGCT 0.582000 5 59 0 0 0.000602 0 0 PPP1R15B 84919 broad.mit.edu 37 1 204378784 204378784 + Missense_Mutation SNP G G A TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 125ccb76-bf8d-4ce7-a04c-4424d6da0322 8e550489-3da4-4a0f-8c20-b649aa5e7648 g.chr1:204378784G>A ENST00000367188.4 - 1 2135 c.1756C>T c.(1756-1758)Cgt>Tgt p.R586C RP11-739N20.2_ENST00000443515.1_RNA NM_032833.3 NP_116222.3 Q5SWA1 PR15B_HUMAN protein phosphatase 1, regulatory subunit 15B 586 regulation of translation breast(3)|cervix(1)|kidney(4)|large_intestine(3)|lung(16)|ovary(1)|pancreas(2)|skin(1)|urinary_tract(3) 34 all_cancers(21;0.0032)|all_neural(3;0.0218)|Glioma(3;0.0382)|Breast(84;0.179)|all_epithelial(62;0.193)|Prostate(682;0.227) all cancers(3;1.14e-29)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.139) TTTGAGTCACGACAGCCTTTC 0.438000 4 54 0 0 0.000248 0 0 CMYA5 202333 broad.mit.edu 37 5 79030301 79030301 + Missense_Mutation SNP C C G TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 125ccb76-bf8d-4ce7-a04c-4424d6da0322 8e550489-3da4-4a0f-8c20-b649aa5e7648 g.chr5:79030301C>G ENST00000446378.2 + 2 5744 c.5713C>G c.(5713-5715)Caa>Gaa p.Q1905E NM_153610.3 NP_705838.3 Q8N3K9 CMYA5_HUMAN cardiomyopathy associated 5 1905 perinuclear region of cytoplasm NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1) 128 Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262) OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35) TGTGGCTAGTCAACACGAACA 0.468000 7 42 0 0 0.003080 0 0 ZNF568 374900 broad.mit.edu 37 19 37440746 37440746 + Missense_Mutation SNP T T G TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 125ccb76-bf8d-4ce7-a04c-4424d6da0322 8e550489-3da4-4a0f-8c20-b649aa5e7648 g.chr19:37440746T>G ENST00000415168.1 + 5 875 c.499T>G c.(499-501)Ttc>Gtc p.F167V ZNF568_ENST00000455427.2_Intron|ZNF568_ENST00000333987.7_Missense_Mutation_p.F231V|ZNF568_ENST00000427117.1_Intron NM_001204837.1 NP_001191766.1 Q3ZCX4 ZN568_HUMAN zinc finger protein 568 231 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(9)|ovary(1) 29 Esophageal squamous(110;0.183) COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) TGGACAAGACTTCAGTCATAA 0.388000 10 57 0 0 0.006214 0 0 LAMB4 22798 broad.mit.edu 37 7 107667339 107667339 + Missense_Mutation SNP C C G TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 125ccb76-bf8d-4ce7-a04c-4424d6da0322 8e550489-3da4-4a0f-8c20-b649aa5e7648 g.chr7:107667339C>G ENST00000388780.3 - 34 5251 c.5168G>C c.(5167-5169)aGa>aCa p.R1723T LAMB4_ENST00000483484.1_Intron|LAMB4_ENST00000388781.3_Intron|LAMB4_ENST00000205386.4_Intron A4D0S4 LAMB4_HUMAN laminin, beta 4 0 Domain I. cell adhesion basement membrane NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4) 97 ATTTTTCTATCTTGCTGAGTT 0.458000 7 46 0 0 0.003080 0 0 ITGA3 3675 broad.mit.edu 37 17 48148225 48148225 + Nonsense_Mutation SNP C C T TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 125ccb76-bf8d-4ce7-a04c-4424d6da0322 8e550489-3da4-4a0f-8c20-b649aa5e7648 g.chr17:48148225C>T ENST00000320031.8 + 5 1012 c.682C>T c.(682-684)Cag>Tag p.Q228* ITGA3_ENST00000544892.1_Nonsense_Mutation_p.Q3*|ITGA3_ENST00000007722.7_Nonsense_Mutation_p.Q228* NM_002204.2|NM_005501.2 NP_002195.1|NP_005492.1 P26006 ITA3_HUMAN integrin, alpha 3 (antigen CD49C, alpha 3 subunit of VLA-3 receptor) 228 blood coagulation|cell-matrix adhesion|integrin-mediated signaling pathway|leukocyte migration cell surface|integrin complex protein binding|receptor activity endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2) 31 CTACATGATTCAGCGCAAGGA 0.502000 37 229 0 0 0.006999 0 0 TULP4 56995 broad.mit.edu 37 6 158924402 158924402 + Missense_Mutation SNP C C T TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 125ccb76-bf8d-4ce7-a04c-4424d6da0322 8e550489-3da4-4a0f-8c20-b649aa5e7648 g.chr6:158924402C>T ENST00000367097.3 + 13 5064 c.3707C>T c.(3706-3708)tCc>tTc p.S1236F TULP4_ENST00000367094.2_Intron NM_020245.4 NP_064630.2 Q9NRJ4 TULP4_HUMAN tubby like protein 4 1236 intracellular signal transduction|response to nutrient cytoplasm protein binding|sequence-specific DNA binding transcription factor activity endometrium(7)|kidney(2)|large_intestine(15)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 49 Breast(66;0.000781)|Ovarian(120;0.0308)|Lung SC(201;0.164)|Prostate(117;0.171) OV - Ovarian serous cystadenocarcinoma(65;1.64e-18)|BRCA - Breast invasive adenocarcinoma(81;2.67e-05) CCCAGCCTCTCCTATTGCACC 0.607000 14 85 0 0 0.008871 0 0 SNORA71C 677839 broad.mit.edu 37 20 37058387 37058387 + RNA SNP T T C TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 125ccb76-bf8d-4ce7-a04c-4424d6da0322 8e550489-3da4-4a0f-8c20-b649aa5e7648 g.chr20:37058387T>C ENST00000364642.1 - 0 59 NR_003017.2 CGGCAGTTCCTCTCCCTGCAC 0.587000 3 89 0 0 0.004672 0 0 ZNF281 23528 broad.mit.edu 37 1 200377024 200377024 + Missense_Mutation SNP C C A TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 125ccb76-bf8d-4ce7-a04c-4424d6da0322 8e550489-3da4-4a0f-8c20-b649aa5e7648 g.chr1:200377024C>A ENST00000294740.2 - 2 1934 c.1810G>T c.(1810-1812)Gat>Tat p.D604Y ZNF281_ENST00000367352.3_Missense_Mutation_p.D568Y|ZNF281_ENST00000367353.1_Missense_Mutation_p.D604Y NM_012482.3 NP_036614.1 Q9Y2X9 ZN281_HUMAN zinc finger protein 281 604 negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding breast(4)|endometrium(3)|kidney(3)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 27 AAAACCTCATCAGGAATTCCA 0.388000 7 52 2.7689e-08 5.25415e-08 0.001984 1 0 OR4D6 219983 broad.mit.edu 37 11 59224763 59224763 + Silent SNP A A G TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 125ccb76-bf8d-4ce7-a04c-4424d6da0322 8e550489-3da4-4a0f-8c20-b649aa5e7648 g.chr11:59224763A>G ENST00000300127.2 + 1 353 c.330A>G c.(328-330)gcA>gcG p.A110A NM_001004708.1 NP_001004708.1 Q8NGJ1 OR4D6_HUMAN olfactory receptor, family 4, subfamily D, member 6 110 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 34 CTGGTGGGGCAGATATTTTTT 0.488000 23 163 0 0 0.002780 0 0 FAT1 2195 broad.mit.edu 37 4 187541760 187541760 + Nonsense_Mutation SNP C C A TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 125ccb76-bf8d-4ce7-a04c-4424d6da0322 8e550489-3da4-4a0f-8c20-b649aa5e7648 g.chr4:187541760C>A ENST00000441802.2 - 10 6189 c.5980G>T c.(5980-5982)Gag>Tag p.E1994* NM_005245.3 NP_005236.2 Q14517 FAT1_HUMAN FAT atypical cadherin 1 1994 Cadherin 18. 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 p.E1994K(1)|p.E1997K(1) 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 GTTTCGGCCTCGGTGGAATTC 0.418000 HNSCC(5;0.00058) 101 237 6.65942e-36 1.29526e-35 0.003610 1 0 TBC1D1 23216 broad.mit.edu 37 4 38134714 38134714 + Missense_Mutation SNP A A G TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 125ccb76-bf8d-4ce7-a04c-4424d6da0322 8e550489-3da4-4a0f-8c20-b649aa5e7648 g.chr4:38134714A>G ENST00000261439.4 + 19 3497 c.3142A>G c.(3142-3144)Atg>Gtg p.M1048V TBC1D1_ENST00000407365.1_3'UTR|TBC1D1_ENST00000508802.1_Missense_Mutation_p.M1039V NM_001253914.1|NM_001253915.1|NM_015173.3 NP_001240843.1|NP_001240844.1|NP_055988.2 Q86TI0 TBCD1_HUMAN TBC1 (tre-2/USP6, BUB2, cdc16) domain family, member 1 1048 nucleus Rab GTPase activator activity NS(1)|breast(3)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1) 36 GGTATTTGAAATGGACATCGC 0.423000 8 51 0 0 0.004482 0 0 CACNG5 27091 broad.mit.edu 37 17 64876761 64876761 + Missense_Mutation SNP G G A rs145214481 TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 125ccb76-bf8d-4ce7-a04c-4424d6da0322 8e550489-3da4-4a0f-8c20-b649aa5e7648 g.chr17:64876761G>A ENST00000533854.1 + 4 608 c.371G>A c.(370-372)cGt>cAt p.R124H CACNG5_ENST00000307139.3_Missense_Mutation_p.R124H|CACNG5_ENST00000169565.3_Missense_Mutation_p.R124H Q9UF02 CCG5_HUMAN calcium channel, voltage-dependent, gamma subunit 5 124 regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|postsynaptic density|postsynaptic membrane voltage-gated calcium channel activity NS(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)|skin(2) 24 BRCA - Breast invasive adenocarcinoma(6;1.61e-08) GGACACATCCGTCCCCACCGG 0.458000 20 129 0 0 0.008871 0 0 KLHL31 401265 broad.mit.edu 37 6 53516703 53516703 + Missense_Mutation SNP A A G TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 125ccb76-bf8d-4ce7-a04c-4424d6da0322 8e550489-3da4-4a0f-8c20-b649aa5e7648 g.chr6:53516703A>G ENST00000370905.3 - 3 1738 c.1598T>C c.(1597-1599)cTc>cCc p.L533P KLHL31_ENST00000407079.1_Missense_Mutation_p.L533P NM_001003760.4 NP_001003760.2 Q9H511 KLH31_HUMAN kelch-like family member 31 533 regulation of transcription, DNA-dependent|transcription, DNA-dependent autonomic_ganglia(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|prostate(3) 20 Lung NSC(77;0.0158) CTCCACGGTGAGCACGTCCAC 0.736000 3 17 0 0 0.004672 0 0 PROS1 5627 broad.mit.edu 37 3 93617301 93617301 + Missense_Mutation SNP C C G TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 125ccb76-bf8d-4ce7-a04c-4424d6da0322 8e550489-3da4-4a0f-8c20-b649aa5e7648 g.chr3:93617301C>G ENST00000394236.3 - 8 1156 c.840G>C c.(838-840)aaG>aaC p.K280N PROS1_ENST00000407433.1_Missense_Mutation_p.K149N NM_000313.3 NP_000304.2 P07225 PROS_HUMAN protein S (alpha) 280 EGF-like 4; calcium-binding (Potential). leukocyte migration|peptidyl-glutamic acid carboxylation|platelet activation|platelet degranulation|post-translational protein modification|proteolysis endoplasmic reticulum membrane|extracellular region|Golgi lumen|Golgi membrane|platelet alpha granule lumen calcium ion binding|endopeptidase inhibitor activity endometrium(3)|kidney(5)|large_intestine(8)|lung(26)|ovary(1)|skin(2)|urinary_tract(1) 46 Antihemophilic Factor(DB00025)|Drotrecogin alfa(DB00055)|Menadione(DB00170) CCTCACAACTCTTCTGATCTT 0.383000 5 64 0 0 0.001168 0 0 TRMT11 60487 broad.mit.edu 37 6 126334221 126334221 + Silent SNP C C T TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 125ccb76-bf8d-4ce7-a04c-4424d6da0322 8e550489-3da4-4a0f-8c20-b649aa5e7648 g.chr6:126334221C>T ENST00000334379.5 + 11 1234 c.1113C>T c.(1111-1113)gtC>gtT p.V371V TRMT11_ENST00000368332.3_Silent_p.V371V NM_001031712.2 NP_001026882.2 Q7Z4G4 TRM11_HUMAN tRNA methyltransferase 11 homolog (S. cerevisiae) 371 tRNA processing methyltransferase activity|nucleic acid binding NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 GBM - Glioblastoma multiforme(226;0.0356) GAAGACTAGTCTATTGGTTAC 0.343000 7 30 0 0 0.003080 0 0 PSRC1 84722 broad.mit.edu 37 1 109824269 109824269 + Missense_Mutation SNP G G C TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 125ccb76-bf8d-4ce7-a04c-4424d6da0322 8e550489-3da4-4a0f-8c20-b649aa5e7648 g.chr1:109824269G>C ENST00000438534.2 - 4 629 c.491C>G c.(490-492)tCt>tGt p.S164C PSRC1_ENST00000369909.2_Missense_Mutation_p.S164C|PSRC1_ENST00000409267.1_Missense_Mutation_p.S164C|PSRC1_ENST00000409138.2_Missense_Mutation_p.S164C|PSRC1_ENST00000369903.2_Missense_Mutation_p.S164C|PSRC1_ENST00000369904.3_Missense_Mutation_p.S164C|PSRC1_ENST00000369907.3_Missense_Mutation_p.S164C NM_001005290.3 NP_001005290.1 Q6PGN9 PSRC1_HUMAN proline/serine-rich coiled-coil 1 164 4 X 4 AA repeats of P-X-X-P. cell division|microtubule bundle formation|mitotic metaphase plate congression|negative regulation of cell growth|positive regulation of microtubule polymerization|positive regulation of transcription, DNA-dependent|regulation of mitotic spindle organization cytosol|midbody|spindle pole microtubule binding endometrium(1)|large_intestine(1)|lung(2)|prostate(2)|skin(1) 7 all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244) Colorectal(144;0.0286)|Lung(183;0.0658)|COAD - Colon adenocarcinoma(174;0.112)|Epithelial(280;0.188)|all cancers(265;0.213) CCTCTTTCCAGATGTAGCCCG 0.577000 18 84 0 0 0.007413 0 0 CCDC151 115948 broad.mit.edu 37 19 11532486 11532486 + Silent SNP G G A TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 125ccb76-bf8d-4ce7-a04c-4424d6da0322 8e550489-3da4-4a0f-8c20-b649aa5e7648 g.chr19:11532486G>A ENST00000356392.4 - 11 1536 c.1449C>T c.(1447-1449)ttC>ttT p.F483F CCDC151_ENST00000586836.1_Silent_p.F292F|CCDC151_ENST00000545100.1_Silent_p.F429F|CCDC151_ENST00000591179.1_Silent_p.F423F NM_145045.4 NP_659482.3 A5D8V7 CC151_HUMAN coiled-coil domain containing 151 483 endometrium(2)|large_intestine(1)|lung(7)|ovary(1)|prostate(1) 12 CCTTTCCCGCGAAGCGGCCGT 0.662000 11 65 0 0 0.001368 0 0 ZWINT 11130 broad.mit.edu 37 10 58118574 58118574 + Missense_Mutation SNP C C G TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 125ccb76-bf8d-4ce7-a04c-4424d6da0322 8e550489-3da4-4a0f-8c20-b649aa5e7648 g.chr10:58118574C>G ENST00000373944.3 - 6 653 c.615G>C c.(613-615)aaG>aaC p.K205N ZWINT_ENST00000460654.1_5'UTR|ZWINT_ENST00000361148.6_Intron|ZWINT_ENST00000318387.2_Missense_Mutation_p.K85N|ZWINT_ENST00000395405.1_Missense_Mutation_p.K205N O95229 ZWINT_HUMAN ZW10 interacting kinetochore protein 205 cell division|establishment of localization in cell|mitotic cell cycle checkpoint|mitotic prometaphase|mitotic sister chromatid segregation|phosphatidylinositol-mediated signaling|spindle organization condensed chromosome kinetochore|cytosol|nucleus protein N-terminus binding NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|prostate(1) 20 ACCTCTGCAGCTTGTCCCGCT 0.517000 20 138 0 0 0.001882 0 0 PKDREJ 10343 broad.mit.edu 37 22 46654584 46654584 + Missense_Mutation SNP C C T TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 125ccb76-bf8d-4ce7-a04c-4424d6da0322 8e550489-3da4-4a0f-8c20-b649aa5e7648 g.chr22:46654584C>T ENST00000253255.5 - 1 4635 c.4636G>A c.(4636-4638)Gat>Aat p.D1546N NM_006071.1 NP_006062.1 Q9NTG1 PKDRE_HUMAN polycystin (PKD) family receptor for egg jelly 1546 acrosome reaction|neuropeptide signaling pathway integral to membrane calcium ion binding|ion channel activity NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2) 73 Ovarian(80;0.00965)|all_neural(38;0.0416) UCEC - Uterine corpus endometrioid carcinoma (28;0.00459) TCCTGATCATCTTCTATGTTG 0.483000 33 233 0 0 0.003755 0 0 ANKHD1 54882 broad.mit.edu 37 5 139885401 139885401 + Missense_Mutation SNP G G C TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 125ccb76-bf8d-4ce7-a04c-4424d6da0322 8e550489-3da4-4a0f-8c20-b649aa5e7648 g.chr5:139885401G>C ENST00000297183.6 + 18 3479 c.3355G>C c.(3355-3357)Gaa>Caa p.E1119Q ANKHD1-EIF4EBP3_ENST00000532219.1_Missense_Mutation_p.E1119Q|ANKHD1_ENST00000360839.2_Missense_Mutation_p.E1119Q NM_020690.5 NP_065741.3 ankyrin repeat and KH domain containing 1 breast(2)|endometrium(8)|kidney(6)|large_intestine(14)|lung(18)|ovary(5)|prostate(2)|skin(3)|urinary_tract(2) 60 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) AGCACAGTCTGAACGAACTAA 0.393000 17 149 0 0 0.008871 0 0 MUC7 4589 broad.mit.edu 37 4 71346858 71346858 + Missense_Mutation SNP C C A TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 125ccb76-bf8d-4ce7-a04c-4424d6da0322 8e550489-3da4-4a0f-8c20-b649aa5e7648 g.chr4:71346858C>A ENST00000413702.1 + 4 685 c.397C>A c.(397-399)Ccc>Acc p.P133T MUC7_ENST00000514512.1_3'UTR|MUC7_ENST00000456088.1_Missense_Mutation_p.P133T|MUC7_ENST00000304887.5_Missense_Mutation_p.P133T NM_001145006.1 NP_001138478.1 Q8TAX7 MUC7_HUMAN mucin 7, secreted 133 Thr-rich. extracellular region protein binding central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(2)|lung(23)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 42 Lung(101;0.211) GACTTTTCTTCCCCAGAATGC 0.448000 13 106 4.3838e-07 8.12047e-07 0.001855 1 0 NEK3 4752 broad.mit.edu 37 13 52709904 52709904 + Missense_Mutation SNP G G C TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 125ccb76-bf8d-4ce7-a04c-4424d6da0322 8e550489-3da4-4a0f-8c20-b649aa5e7648 g.chr13:52709904G>C ENST00000400357.2 - 12 2512 c.1219C>G c.(1219-1221)Ctc>Gtc p.L407V NEK3_ENST00000378101.2_Missense_Mutation_p.L424V|NEK3_ENST00000339406.3_Missense_Mutation_p.L424V|NEK3_ENST00000452082.2_Missense_Mutation_p.L428V P51956 NEK3_HUMAN NIMA-related kinase 3 424 cell division|mitosis nucleus ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|stomach(2) 18 Breast(56;0.000207)|Lung NSC(96;0.00145)|Prostate(109;0.034)|Hepatocellular(98;0.065)|all_neural(104;0.173) GBM - Glioblastoma multiforme(99;2.81e-08) GCCAAGCTGAGATCAGCATTC 0.378000 7 39 0 0 0.001984 0 0 SAFB 6294 broad.mit.edu 37 19 5667066 5667066 + Missense_Mutation SNP G G A TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 125ccb76-bf8d-4ce7-a04c-4424d6da0322 8e550489-3da4-4a0f-8c20-b649aa5e7648 g.chr19:5667066G>A ENST00000292123.5 + 18 2451 c.2344G>A c.(2344-2346)Gaa>Aaa p.E782K SAFB_ENST00000433404.1_Missense_Mutation_p.E612K|SAFB_ENST00000588852.1_Missense_Mutation_p.E782K|SAFB_ENST00000454510.1_Missense_Mutation_p.E713K|SAFB_ENST00000592224.1_Missense_Mutation_p.E781K|SAFB_ENST00000538656.1_Missense_Mutation_p.E624K NM_001201338.1|NM_001201339.1|NM_002967.3 NP_001188267.1|NP_001188268.1|NP_002958.2 Q15424 SAFB1_HUMAN scaffold attachment factor B 782 Arg-rich.|Interaction with POLR2A.|Interaction with SAFB2. chromatin organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus double-stranded DNA binding|nucleotide binding|protein binding|RNA binding breast(3)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|liver(1)|lung(6)|ovary(2)|skin(1) 23 UCEC - Uterine corpus endometrioid carcinoma (162;0.000222) GCATTACCCAGAACGCCATGG 0.607000 14 113 0 0 0.002450 0 0 FGD6 55785 broad.mit.edu 37 12 95603436 95603436 + Nonsense_Mutation SNP G G A TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 125ccb76-bf8d-4ce7-a04c-4424d6da0322 8e550489-3da4-4a0f-8c20-b649aa5e7648 g.chr12:95603436G>A ENST00000343958.4 - 2 1847 c.1624C>T c.(1624-1626)Cag>Tag p.Q542* FGD6_ENST00000549499.1_Nonsense_Mutation_p.Q542*|FGD6_ENST00000546711.1_Nonsense_Mutation_p.Q542* NM_018351.3 NP_060821.3 Q6ZV73 FGD6_HUMAN FYVE, RhoGEF and PH domain containing 6 542 actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape cytoskeleton|Golgi apparatus|lamellipodium|ruffle metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding breast(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(14)|liver(1)|lung(12)|ovary(3)|prostate(3)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 56 CACAAATGCTGAAGGTGATTT 0.423000 10 89 0 0 0.006214 0 0 ZNF782 158431 broad.mit.edu 37 9 99581236 99581236 + Nonsense_Mutation SNP G G A TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 125ccb76-bf8d-4ce7-a04c-4424d6da0322 8e550489-3da4-4a0f-8c20-b649aa5e7648 g.chr9:99581236G>A ENST00000481138.1 - 6 1730 c.1069C>T c.(1069-1071)Cag>Tag p.Q357* ZNF782_ENST00000535338.1_Nonsense_Mutation_p.Q225* NM_001001662.1 NP_001001662.1 Q6ZMW2 ZN782_HUMAN zinc finger protein 782 357 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(8)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(3) 33 Acute lymphoblastic leukemia(62;0.0527) TGAACCTTCTGATGTACACTG 0.418000 31 200 0 0 0.002096 0 0 IPO13 9670 broad.mit.edu 37 1 44424510 44424510 + Silent SNP T T C TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 125ccb76-bf8d-4ce7-a04c-4424d6da0322 8e550489-3da4-4a0f-8c20-b649aa5e7648 g.chr1:44424510T>C ENST00000372343.3 + 11 2639 c.1977T>C c.(1975-1977)gaT>gaC p.D659D NM_014652.3 NP_055467.3 O94829 IPO13_HUMAN importin 13 659 protein import into nucleus cytoplasm|nucleus protein binding|protein transporter activity NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(13)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 40 Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0821) ATGAGGATGATCATGAAGGCC 0.562000 11 78 0 0 0.000978 0 0 FAM111B 374393 broad.mit.edu 37 11 58891901 58891901 + Silent SNP C C T TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 125ccb76-bf8d-4ce7-a04c-4424d6da0322 8e550489-3da4-4a0f-8c20-b649aa5e7648 g.chr11:58891901C>T ENST00000343597.3 + 4 522 c.331C>T c.(331-333)Ctg>Ttg p.L111L FAM111B_ENST00000411426.1_Silent_p.L81L|FAM111B_ENST00000529618.1_Silent_p.L81L NM_198947.3 NP_945185.1 Q6SJ93 F111B_HUMAN family with sequence similarity 111, member B 111 catalytic activity endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(12)|ovary(3)|pancreas(1)|skin(1) 40 CTACTCAGCCCTGAGTGCTAA 0.343000 9 48 0 0 0.004482 0 0 CRY1 1407 broad.mit.edu 37 12 107415889 107415889 + Silent SNP T T C TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 125ccb76-bf8d-4ce7-a04c-4424d6da0322 8e550489-3da4-4a0f-8c20-b649aa5e7648 g.chr12:107415889T>C ENST00000008527.5 - 2 1107 c.240A>G c.(238-240)ccA>ccG p.P80P NM_004075.3 NP_004066.1 Q16526 CRY1_HUMAN cryptochrome 1 (photolyase-like) 80 DNA photolyase. DNA repair|protein-chromophore linkage|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus blue light photoreceptor activity|DNA photolyase activity|double-stranded DNA binding|nucleotide binding|protein binding NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(3)|skin(1) 29 ACACATCTGCTGGTTGTCCAC 0.323000 22 127 0 0 0.006320 0 0 CPSF7 79869 broad.mit.edu 37 11 61196678 61196678 + Missense_Mutation SNP T T C TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 125ccb76-bf8d-4ce7-a04c-4424d6da0322 8e550489-3da4-4a0f-8c20-b649aa5e7648 g.chr11:61196678T>C ENST00000340437.4 - 2 239 c.159A>G c.(157-159)atA>atG p.I53M CPSF7_ENST00000448745.1_Missense_Mutation_p.I10M|CPSF7_ENST00000439958.3_Missense_Mutation_p.I10M|CPSF7_ENST00000394888.4_Missense_Mutation_p.I10M|CPSF7_ENST00000541963.1_Missense_Mutation_p.I10M NM_024811.3 NP_079087.3 Q8N684 CPSF7_HUMAN cleavage and polyadenylation specific factor 7, 59kDa 10 Poly-Pro. mRNA 3'-end processing|nuclear mRNA splicing, via spliceosome|protein tetramerization|termination of RNA polymerase II transcription mRNA cleavage factor complex nucleotide binding|protein binding|RNA binding breast(3)|central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(5)|skin(2)|upper_aerodigestive_tract(1) 22 CGTCAGCATATATATCAATCA 0.483000 30 162 0 0 0.002836 0 0 HUWE1 10075 broad.mit.edu 37 X 53617986 53617986 + Missense_Mutation SNP G G A TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 125ccb76-bf8d-4ce7-a04c-4424d6da0322 8e550489-3da4-4a0f-8c20-b649aa5e7648 g.chrX:53617986G>A ENST00000342160.3 - 33 4526 c.4069C>T c.(4069-4071)Cct>Tct p.P1357S HUWE1_ENST00000218328.8_Missense_Mutation_p.P1357S|HUWE1_ENST00000262854.6_Missense_Mutation_p.P1357S Q7Z6Z7 HUWE1_HUMAN HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase 1357 base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasm|nucleus DNA binding|protein binding|ubiquitin-protein ligase activity NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2) 153 ATGATTGGAGGAGGGTGGGTT 0.488000 4 20 0 0 0.000248 0 0 C1orf127 148345 broad.mit.edu 37 1 11017770 11017770 + Missense_Mutation SNP G G A TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 125ccb76-bf8d-4ce7-a04c-4424d6da0322 8e550489-3da4-4a0f-8c20-b649aa5e7648 g.chr1:11017770G>A ENST00000377004.4 - 7 595 c.596C>T c.(595-597)tCt>tTt p.S199F C1orf127_ENST00000377008.4_Missense_Mutation_p.S50F NM_001170754.1 NP_001164225.1 B7ZLG7 B7ZLG7_HUMAN chromosome 1 open reading frame 127 50 NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(5) 32 Ovarian(185;0.249) Lung NSC(185;0.000226)|all_lung(284;0.000302)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.0139)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0731) STAD - Stomach adenocarcinoma(5;0.0224) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.71e-07)|COAD - Colon adenocarcinoma(227;7.79e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000305)|Kidney(185;0.000785)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|READ - Rectum adenocarcinoma(331;0.0509) GTCTTCAAGAGAAGCCACCAG 0.577000 13 106 0 0 0.001368 0 0 GADD45GIP1 90480 broad.mit.edu 37 19 13065144 13065144 + Missense_Mutation SNP C C G TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 125ccb76-bf8d-4ce7-a04c-4424d6da0322 8e550489-3da4-4a0f-8c20-b649aa5e7648 g.chr19:13065144C>G ENST00000316939.1 - 2 570 c.547G>C c.(547-549)Gag>Cag p.E183Q NM_052850.2 NP_443082.2 Q8TAE8 G45IP_HUMAN growth arrest and DNA-damage-inducible, gamma interacting protein 1 183 cell cycle|interspecies interaction between organisms nucleus protein binding ovary(2)|prostate(1)|skin(1) 4 TCCTTCTTCTCTAGGTCCTGG 0.627000 17 130 0 0 0.006122 0 0 SLC26A2 1836 broad.mit.edu 37 5 149357721 149357721 + Missense_Mutation SNP G G T TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 125ccb76-bf8d-4ce7-a04c-4424d6da0322 8e550489-3da4-4a0f-8c20-b649aa5e7648 g.chr5:149357721G>T ENST00000286298.4 + 2 774 c.506G>T c.(505-507)tGc>tTc p.C169F NM_000112.3 NP_000103.2 P50443 S26A2_HUMAN solute carrier family 26 (anion exchanger), member 2 169 integral to plasma membrane|membrane fraction secondary active sulfate transmembrane transporter activity p.C169F(1) NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(1)|prostate(2)|stomach(1) 18 KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147) GGAGTACTGTGCCTTATGATT 0.448000 18 96 3.41278e-10 6.53977e-10 0.004990 1 0 ACVRL1 94 broad.mit.edu 37 12 52309043 52309043 + Silent SNP G G A TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 125ccb76-bf8d-4ce7-a04c-4424d6da0322 8e550489-3da4-4a0f-8c20-b649aa5e7648 g.chr12:52309043G>A ENST00000550683.1 + 6 950 c.849G>A c.(847-849)tcG>tcA p.S283S ACVRL1_ENST00000388922.4_Silent_p.S269S|ACVRL1_ENST00000419526.2_Silent_p.S95S NM_001077401.1 NP_001070869.1 P37023 ACVL1_HUMAN activin A receptor type II-like 1 269 Protein kinase. blood vessel endothelial cell proliferation involved in sprouting angiogenesis|blood vessel maturation|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of endothelial cell migration|negative regulation of focal adhesion assembly|positive regulation of BMP signaling pathway|positive regulation of transcription, DNA-dependent|regulation of blood pressure|regulation of blood vessel endothelial cell migration|regulation of DNA replication|regulation of endothelial cell proliferation|transforming growth factor beta receptor signaling pathway|wound healing, spreading of epidermal cells cell surface|integral to plasma membrane activin binding|activin receptor activity, type I|ATP binding|metal ion binding|receptor signaling protein serine/threonine kinase activity|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|urinary_tract(1) 20 BRCA - Breast invasive adenocarcinoma(357;0.0991) Adenosine triphosphate(DB00171) CCCGCAACTCGAGCACGCAGC 0.612000 9 68 0 0 0.001368 0 0 MAS1L 116511 broad.mit.edu 37 6 29454874 29454874 + Missense_Mutation SNP G G A TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 125ccb76-bf8d-4ce7-a04c-4424d6da0322 8e550489-3da4-4a0f-8c20-b649aa5e7648 g.chr6:29454874G>A ENST00000377127.3 - 1 864 c.806C>T c.(805-807)tCg>tTg p.S269L NM_052967.1 NP_443199.1 P35410 MAS1L_HUMAN MAS1 oncogene-like 269 cytoplasm|integral to membrane|nucleus|plasma membrane G-protein coupled receptor activity p.S269L(1) NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(7)|pancreas(1)|prostate(2)|skin(2) 28 CATGGGGGCCGAGATCTGCAC 0.512000 7 37 0 0 0.001984 0 0 ZBTB38 253461 broad.mit.edu 37 3 141163924 141163924 + Missense_Mutation SNP G G T TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 125ccb76-bf8d-4ce7-a04c-4424d6da0322 8e550489-3da4-4a0f-8c20-b649aa5e7648 g.chr3:141163924G>T ENST00000514251.1 + 4 2973 c.2694G>T c.(2692-2694)gaG>gaT p.E898D ZBTB38_ENST00000321464.5_Missense_Mutation_p.E899D|ZBTB38_ENST00000441582.2_Missense_Mutation_p.E898D Q8NAP3 ZBT38_HUMAN zinc finger and BTB domain containing 38 898 positive regulation of transcription from RNA polymerase II promoter nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(3)|cervix(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1) 41 AGTGCATGGAGATGAGTGAAG 0.522000 16 49 6.72482e-11 1.29503e-10 0.003163 1 0 RABEPK 10244 broad.mit.edu 37 9 127990196 127990196 + Silent SNP G G T TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 125ccb76-bf8d-4ce7-a04c-4424d6da0322 8e550489-3da4-4a0f-8c20-b649aa5e7648 g.chr9:127990196G>T ENST00000373538.3 + 6 844 c.534G>T c.(532-534)ctG>ctT p.L178L RABEPK_ENST00000259460.8_Silent_p.L127L|RABEPK_ENST00000394124.4_3'UTR|RABEPK_ENST00000394125.4_Silent_p.L178L NM_005833.3 NP_005824.2 Q7Z6M1 RABEK_HUMAN Rab9 effector protein with kelch motifs 178 receptor-mediated endocytosis|vesicle docking involved in exocytosis endosome membrane|plasma membrane NS(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 15 TAGACACTCTGACCTGGTCAC 0.483000 10 68 9.70103e-10 1.84985e-09 0.008291 1 0 SUN3 256979 broad.mit.edu 37 7 48035654 48035654 + Missense_Mutation SNP C C G TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 125ccb76-bf8d-4ce7-a04c-4424d6da0322 8e550489-3da4-4a0f-8c20-b649aa5e7648 g.chr7:48035654C>G ENST00000453192.2 - 8 874 c.631G>C c.(631-633)Gaa>Caa p.E211Q SUN3_ENST00000395572.2_Missense_Mutation_p.E223Q|SUN3_ENST00000412142.1_Missense_Mutation_p.E123Q|SUN3_ENST00000297325.4_Missense_Mutation_p.E223Q|SUN3_ENST00000473723.1_5'UTR Q8TAQ9 SUN3_HUMAN Sad1 and UNC84 domain containing 3 223 SUN. integral to membrane p.E223K(1) central_nervous_system(1)|endometrium(3)|large_intestine(8)|liver(1)|lung(15)|upper_aerodigestive_tract(1)|urinary_tract(1) 30 GGAGGCATTTCATGATTTAGG 0.284000 11 73 0 0 0.001368 0 0 DNAH11 8701 broad.mit.edu 37 7 21775391 21775391 + Missense_Mutation SNP C C T TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 125ccb76-bf8d-4ce7-a04c-4424d6da0322 8e550489-3da4-4a0f-8c20-b649aa5e7648 g.chr7:21775391C>T ENST00000328843.6 + 47 7626 c.7595C>T c.(7594-7596)gCa>gTa p.A2532V DNAH11_ENST00000409508.3_Missense_Mutation_p.A2525V Q96DT5 DYH11_HUMAN dynein, axonemal, heavy chain 11 2532 AAA 3 (By similarity). microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 230 GACACATTGGCAAGTCTCTCT 0.413000 Kartagener syndrome 9 88 0 0 0.004482 0 0 PBRM1 55193 broad.mit.edu 37 3 52623229 52623229 + Nonsense_Mutation SNP G G C rs141067977 by1000genomes TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 125ccb76-bf8d-4ce7-a04c-4424d6da0322 8e550489-3da4-4a0f-8c20-b649aa5e7648 g.chr3:52623229G>C ENST00000356770.4 - 17 2728 c.2726C>G c.(2725-2727)tCa>tGa p.S909* PBRM1_ENST00000410007.1_Nonsense_Mutation_p.S941*|PBRM1_ENST00000296302.7_Nonsense_Mutation_p.S941*|PBRM1_ENST00000337303.4_Nonsense_Mutation_p.S941*|PBRM1_ENST00000409767.1_Nonsense_Mutation_p.S956*|PBRM1_ENST00000394830.3_Nonsense_Mutation_p.S941*|PBRM1_ENST00000409057.1_Nonsense_Mutation_p.S941*|PBRM1_ENST00000409114.3_Nonsense_Mutation_p.S956* Q86U86 PB1_HUMAN polybromo 1 941 chromatin remodeling|mitosis|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent nuclear chromosome chromatin binding|DNA binding|protein binding breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1) 335 BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613) ATGTAAGCCTGAGAGGCCTGC 0.428000 """Mis, N, F, S, D, O""" """clear cell renal carcinoma, breast""" 13 110 0 0 0.001855 0 0 AGTR1 185 broad.mit.edu 37 3 148459824 148459824 + Missense_Mutation SNP G G A TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 125ccb76-bf8d-4ce7-a04c-4424d6da0322 8e550489-3da4-4a0f-8c20-b649aa5e7648 g.chr3:148459824G>A ENST00000542281.1 + 4 1448 c.1002G>A c.(1000-1002)atG>atA p.M334I AGTR1_ENST00000497524.1_Missense_Mutation_p.M334I|AGTR1_ENST00000461609.1_Missense_Mutation_p.M334I|AGTR1_ENST00000349243.3_Missense_Mutation_p.M334I|AGTR1_ENST00000418473.2_Missense_Mutation_p.M334I|AGTR1_ENST00000404754.2_Missense_Mutation_p.M334I|AGTR1_ENST00000402260.1_Missense_Mutation_p.M334I|AGTR1_ENST00000474935.1_Missense_Mutation_p.M334I|AGTR1_ENST00000475347.1_Missense_Mutation_p.M334I NM_031850.3 NP_114038.4 P30556 AGTR1_HUMAN angiotensin II receptor, type 1 334 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) CAACAAAAATGAGCACGCTTT 0.403000 7 44 0 0 0.001984 0 0 NCR1 9437 broad.mit.edu 37 19 55421380 55421380 + Missense_Mutation SNP G G A TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 125ccb76-bf8d-4ce7-a04c-4424d6da0322 8e550489-3da4-4a0f-8c20-b649aa5e7648 g.chr19:55421380G>A ENST00000594765.1 + 5 662 c.637G>A c.(637-639)Gac>Aac p.D213N NCR1_ENST00000350790.5_Missense_Mutation_p.D118N|NCR1_ENST00000598576.1_Missense_Mutation_p.D201N|NCR1_ENST00000291890.4_Missense_Mutation_p.D213N|NCR1_ENST00000338835.5_Missense_Mutation_p.D213N|NCR1_ENST00000447255.1_Missense_Mutation_p.D213N|NCR1_ENST00000357397.5_Missense_Mutation_p.D106N O76036 NCTR1_HUMAN natural cytotoxicity triggering receptor 1 213 cellular defense response|natural killer cell activation|regulation of natural killer cell mediated cytotoxicity integral to plasma membrane|SWI/SNF complex receptor activity|receptor signaling protein activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1) 18 GBM - Glioblastoma multiforme(193;0.0449) TTTTCCAGGCGACATTGAGAA 0.438000 23 169 0 0 0.002780 0 0 PSMF1 9491 broad.mit.edu 37 20 1115772 1115772 + Missense_Mutation SNP A A G TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 125ccb76-bf8d-4ce7-a04c-4424d6da0322 8e550489-3da4-4a0f-8c20-b649aa5e7648 g.chr20:1115772A>G ENST00000335877.6 + 4 550 c.374A>G c.(373-375)aAg>aGg p.K125R PSMF1_ENST00000484891.1_3'UTR|PSMF1_ENST00000381898.4_Missense_Mutation_p.K37R|PSMF1_ENST00000333082.3_Missense_Mutation_p.K125R|PSMF1_ENST00000438768.2_Intron|PSMF1_ENST00000246015.4_Missense_Mutation_p.K125R NM_006814.3 NP_006805.2 Q92530 PSMF1_HUMAN proteasome (prosome, macropain) inhibitor subunit 1 (PI31) 125 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|S phase of mitotic cell cycle|viral reproduction proteasome core complex endopeptidase inhibitor activity|protein binding endometrium(1)|kidney(1)|large_intestine(3)|lung(8) 13 AGGACCTACAAGAACAGTGAG 0.552000 7 55 0 0 0.001984 0 0 HIVEP3 59269 broad.mit.edu 37 1 42045932 42045932 + Missense_Mutation SNP G G A TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 125ccb76-bf8d-4ce7-a04c-4424d6da0322 8e550489-3da4-4a0f-8c20-b649aa5e7648 g.chr1:42045932G>A ENST00000372584.1 - 3 5551 c.4537C>T c.(4537-4539)Cct>Tct p.P1513S HIVEP3_ENST00000247584.5_Missense_Mutation_p.P1513S|HIVEP3_ENST00000372583.1_Missense_Mutation_p.P1513S|HIVEP3_ENST00000429157.2_Missense_Mutation_p.P1513S NM_001127714.2 NP_001121186.1 Q5T1R4 ZEP3_HUMAN human immunodeficiency virus type I enhancer binding protein 3 1513 positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus zinc ion binding NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 85 Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0367) GGGAGGGGAGGAATTTCCTTT 0.557000 6 57 0 0 0.001984 0 0 HLA-DOA 3111 broad.mit.edu 37 6 32974913 32974913 + Silent SNP G G A TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 125ccb76-bf8d-4ce7-a04c-4424d6da0322 8e550489-3da4-4a0f-8c20-b649aa5e7648 g.chr6:32974913G>A ENST00000229829.5 - 4 768 c.693C>T c.(691-693)ggC>ggT p.G231G HLA-DOA_ENST00000450833.2_Intron NM_002119.3 NP_002110.1 P06340 DOA_HUMAN major histocompatibility complex, class II, DO alpha 231 antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway|T cell costimulation|T cell receptor signaling pathway endosome membrane|integral to membrane|lysosomal membrane|MHC class II protein complex MHC class II receptor activity NS(1)|breast(1)|central_nervous_system(1)|large_intestine(2)|lung(3)|prostate(1) 9 CCACGAGGAAGCCCACCAGGC 0.627000 17 107 0 0 0.004007 0 0 HCN4 10021 broad.mit.edu 37 15 73614875 73614875 + Missense_Mutation SNP C C T TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 125ccb76-bf8d-4ce7-a04c-4424d6da0322 8e550489-3da4-4a0f-8c20-b649aa5e7648 g.chr15:73614875C>T ENST00000261917.3 - 8 4552 c.3559G>A c.(3559-3561)Gaa>Aaa p.E1187K NM_005477.2 NP_005468.1 Q9Y3Q4 HCN4_HUMAN hyperpolarization activated cyclic nucleotide-gated potassium channel 4 1187 blood circulation|muscle contraction integral to membrane cAMP binding|protein binding|sodium channel activity|voltage-gated potassium channel activity NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(13)|liver(1)|lung(18)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 55 COAD - Colon adenocarcinoma(1;0.142) GCCCCAGGTTCCCTCTGGGGT 0.582000 5 15 0 0 0.000602 0 0 TAF1L 138474 broad.mit.edu 37 9 32632974 32632974 + Silent SNP G G A rs146604611 byFrequency TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 125ccb76-bf8d-4ce7-a04c-4424d6da0322 8e550489-3da4-4a0f-8c20-b649aa5e7648 g.chr9:32632974G>A ENST00000242310.4 - 1 2693 c.2604C>T c.(2602-2604)tgC>tgT p.C868C NM_153809.2 NP_722516.1 Q8IZX4 TAF1L_HUMAN TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like 868 male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent transcription factor TFIID complex DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1) 159 LUSC - Lung squamous cell carcinoma(29;0.0181) GBM - Glioblastoma multiforme(74;0.00301) TGAAGTCAGCGCAGAGCTTTA 0.468000 20 154 0 0 0.008871 0 0 SEPT3 55964 broad.mit.edu 37 22 42390724 42390724 + Silent SNP C C T TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 125ccb76-bf8d-4ce7-a04c-4424d6da0322 8e550489-3da4-4a0f-8c20-b649aa5e7648 g.chr22:42390724C>T ENST00000396425.3 + 10 1148 c.1017C>T c.(1015-1017)agC>agT p.S339S SEPT3_ENST00000328414.8_Intron|SEPT3_ENST00000291236.11_Silent_p.S275S|SEPT3_ENST00000406029.1_Intron|SEPT3_ENST00000396426.3_Intron NM_019106.5 NP_061979.3 Q9UH03 SEPT3_HUMAN septin 3 0 cell cycle|cytokinesis cell junction|septin complex GTP binding breast(1)|kidney(3)|large_intestine(5)|lung(6)|prostate(1)|skin(1) 17 CTCCGGTGAGCGTGGACACAG 0.542000 11 66 0 0 0.008291 0 0 EPN1 29924 broad.mit.edu 37 19 56204351 56204351 + Missense_Mutation SNP C C A TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 125ccb76-bf8d-4ce7-a04c-4424d6da0322 8e550489-3da4-4a0f-8c20-b649aa5e7648 g.chr19:56204351C>A ENST00000411543.2 + 9 2017 c.1470C>A c.(1468-1470)ttC>ttA p.F490L EPN1_ENST00000270460.6_Missense_Mutation_p.F404L|EPN1_ENST00000085079.7_Missense_Mutation_p.F378L NM_001130071.1 NP_001123543.1 Q9Y6I3 EPN1_HUMAN epsin 1 404 Ala/Gly/Pro-rich. endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway coated pit|cytoplasm|nucleus|plasma membrane lipid binding endometrium(5)|kidney(1)|large_intestine(2)|lung(8)|skin(1) 17 Colorectal(82;0.00244)|Ovarian(87;0.133) GBM - Glioblastoma multiforme(193;0.112) CCGACGAGTTCTCTGACTTTG 0.701000 13 117 4.3838e-07 8.12047e-07 0.001855 1 0 RUSC1 23623 broad.mit.edu 37 1 155296505 155296505 + Missense_Mutation SNP G G C TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 125ccb76-bf8d-4ce7-a04c-4424d6da0322 8e550489-3da4-4a0f-8c20-b649aa5e7648 g.chr1:155296505G>C ENST00000368352.5 + 8 2147 c.1996G>C c.(1996-1998)Gag>Cag p.E666Q RUSC1_ENST00000462780.1_3'UTR|RUSC1_ENST00000292254.4_Missense_Mutation_p.E197Q|RUSC1_ENST00000368349.4_Missense_Mutation_p.E197Q|RUSC1_ENST00000368354.3_Intron|RUSC1_ENST00000368347.4_Missense_Mutation_p.E256Q NM_001105203.1 NP_001098673.1 Q9BVN2 RUSC1_HUMAN RUN and SH3 domain containing 1 666 RUN. cytoplasm|nucleolus SH3/SH2 adaptor activity breast(2)|endometrium(2)|kidney(2)|large_intestine(2)|liver(2)|lung(7)|ovary(2)|skin(1)|urinary_tract(1) 21 Hepatocellular(266;0.0877)|all_hematologic(923;0.145) Epithelial(20;1.55e-10)|all cancers(21;4.15e-10)|BRCA - Breast invasive adenocarcinoma(34;0.000549)|LUSC - Lung squamous cell carcinoma(543;0.127) CCTGCTCTTTGAGCACCACCA 0.642000 22 89 0 0 0.002780 0 0 HTR3C 170572 broad.mit.edu 37 3 183778119 183778119 + Silent SNP C C G TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 125ccb76-bf8d-4ce7-a04c-4424d6da0322 8e550489-3da4-4a0f-8c20-b649aa5e7648 g.chr3:183778119C>G ENST00000318351.1 + 9 1357 c.1323C>G c.(1321-1323)gtC>gtG p.V441V NM_130770.2 NP_570126.2 Q8WXA8 5HT3C_HUMAN 5-hydroxytryptamine (serotonin) receptor 3C, ionotropic 441 integral to membrane|plasma membrane|postsynaptic membrane extracellular ligand-gated ion channel activity|receptor activity central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(2) 32 all_cancers(143;2.33e-10)|Ovarian(172;0.0303) Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22) TCCTTACTGTCATTGTCCTCT 0.557000 24 183 0 0 0.003954 0 0 GCNT4 51301 broad.mit.edu 37 5 74325189 74325189 + Missense_Mutation SNP T T C TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 125ccb76-bf8d-4ce7-a04c-4424d6da0322 8e550489-3da4-4a0f-8c20-b649aa5e7648 g.chr5:74325189T>C ENST00000322348.4 - 1 1535 c.674A>G c.(673-675)aAc>aGc p.N225S NM_016591.2 NP_057675.1 Q9P109 GCNT4_HUMAN glucosaminyl (N-acetyl) transferase 4, core 2 225 protein O-linked glycosylation Golgi membrane|integral to membrane beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity|N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|ovary(2)|skin(1)|stomach(2) 19 all_lung(232;0.0131)|Lung NSC(167;0.0282)|Ovarian(174;0.0798) OV - Ovarian serous cystadenocarcinoma(47;8.44e-57) CCCACACAAGTTGATAACATA 0.418000 4 78 0 0 0.000248 0 0 KIAA1109 84162 broad.mit.edu 37 4 123230492 123230492 + Silent SNP A A G TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 125ccb76-bf8d-4ce7-a04c-4424d6da0322 8e550489-3da4-4a0f-8c20-b649aa5e7648 g.chr4:123230492A>G ENST00000264501.4 + 59 10498 c.10125A>G c.(10123-10125)gcA>gcG p.A3375A KIAA1109_ENST00000455637.1_Silent_p.A3375A|KIAA1109_ENST00000388738.3_Silent_p.A3375A Q2LD37 K1109_HUMAN KIAA1109 3375 regulation of cell growth|regulation of epithelial cell differentiation integral to membrane|nucleus breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3) 172 TCATCACTGCATGCTCTTCAG 0.378000 11 62 0 0 0.000978 0 0 MIR1283-1 100302265 broad.mit.edu 37 19 54191746 54191746 + RNA SNP A A G TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 125ccb76-bf8d-4ce7-a04c-4424d6da0322 8e550489-3da4-4a0f-8c20-b649aa5e7648 g.chr19:54191746A>G ENST00000408494.1 + 0 12 NR_031573.1 TCAAGCTATGAGTCTACAAAG 0.413000 3 110 0 0 0.004672 0 0 PDS5A 23244 broad.mit.edu 37 4 39910122 39910122 + Missense_Mutation SNP T T C TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 125ccb76-bf8d-4ce7-a04c-4424d6da0322 8e550489-3da4-4a0f-8c20-b649aa5e7648 g.chr4:39910122T>C ENST00000303538.8 - 11 1665 c.1126A>G c.(1126-1128)Att>Gtt p.I376V PDS5A_ENST00000503396.1_Missense_Mutation_p.I376V NM_001100399.1 NP_001093869.1 Q29RF7 PDS5A_HUMAN PDS5, regulator of cohesion maintenance, homolog A (S. cerevisiae) 376 cell division|mitosis|negative regulation of DNA replication chromatin|nucleus identical protein binding p.I376L(1) breast(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(9)|lung(14)|prostate(3)|skin(1)|urinary_tract(1) 39 TCATGACGAATAGCTTCTTCT 0.353000 16 100 0 0 0.003163 0 0 PKDREJ 10343 broad.mit.edu 37 22 46653935 46653935 + Missense_Mutation SNP C C T TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 125ccb76-bf8d-4ce7-a04c-4424d6da0322 8e550489-3da4-4a0f-8c20-b649aa5e7648 g.chr22:46653935C>T ENST00000253255.5 - 1 5284 c.5285G>A c.(5284-5286)aGa>aAa p.R1762K NM_006071.1 NP_006062.1 Q9NTG1 PKDRE_HUMAN polycystin (PKD) family receptor for egg jelly 1762 acrosome reaction|neuropeptide signaling pathway integral to membrane calcium ion binding|ion channel activity NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2) 73 Ovarian(80;0.00965)|all_neural(38;0.0416) UCEC - Uterine corpus endometrioid carcinoma (28;0.00459) GTTTAGCCATCTATAGATGTC 0.423000 17 115 0 0 0.004990 0 0 PKDREJ 10343 broad.mit.edu 37 22 46654251 46654251 + Missense_Mutation SNP C C T TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 125ccb76-bf8d-4ce7-a04c-4424d6da0322 8e550489-3da4-4a0f-8c20-b649aa5e7648 g.chr22:46654251C>T ENST00000253255.5 - 1 4968 c.4969G>A c.(4969-4971)Gag>Aag p.E1657K NM_006071.1 NP_006062.1 Q9NTG1 PKDRE_HUMAN polycystin (PKD) family receptor for egg jelly 1657 acrosome reaction|neuropeptide signaling pathway integral to membrane calcium ion binding|ion channel activity NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2) 73 Ovarian(80;0.00965)|all_neural(38;0.0416) UCEC - Uterine corpus endometrioid carcinoma (28;0.00459) AACCTGATCTCAGTATATTTA 0.438000 10 80 0 0 0.008291 0 0 ALOX12B 242 broad.mit.edu 37 17 7984278 7984278 + Missense_Mutation SNP G G A TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 125ccb76-bf8d-4ce7-a04c-4424d6da0322 8e550489-3da4-4a0f-8c20-b649aa5e7648 g.chr17:7984278G>A ENST00000319144.4 - 4 711 c.451C>T c.(451-453)Cct>Tct p.P151S AC129492.6_ENST00000399413.3_3'UTR NM_001139.2 NP_001130.1 O75342 LX12B_HUMAN arachidonate 12-lipoxygenase, 12R type 151 Lipoxygenase. epidermis development|leukotriene biosynthetic process arachidonate 12-lipoxygenase activity|iron ion binding|lipoxygenase activity endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|stomach(1) 16 GGCAGGCCAGGAAGAAAGACT 0.642000 Multiple Myeloma(8;0.094) 6 66 0 0 0.003080 0 0 IGLV2-28 28812 broad.mit.edu 37 22 23006961 23006961 + RNA SNP C C T TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 125ccb76-bf8d-4ce7-a04c-4424d6da0322 8e550489-3da4-4a0f-8c20-b649aa5e7648 g.chr22:23006961C>T ENST00000385099.1 + 0 64 GGCTCTGCTCCTCCTCACCCT 0.627000 4 7 0 0 0.000248 0 0 USP6 9098 broad.mit.edu 37 17 5048731 5048731 + Missense_Mutation SNP C C T TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 125ccb76-bf8d-4ce7-a04c-4424d6da0322 8e550489-3da4-4a0f-8c20-b649aa5e7648 g.chr17:5048731C>T ENST00000574788.1 + 27 4254 c.2024C>T c.(2023-2025)tCa>tTa p.S675L USP6_ENST00000250066.6_Missense_Mutation_p.S675L|USP6_ENST00000332776.4_Missense_Mutation_p.S675L|USP6_ENST00000304328.5_Missense_Mutation_p.S358L P35125 UBP6_HUMAN ubiquitin specific peptidase 6 (Tre-2 oncogene) 675 protein deubiquitination|regulation of vesicle-mediated transport|ubiquitin-dependent protein catabolic process lysosome|plasma membrane|recycling endosome calmodulin binding|cysteine-type endopeptidase activity|nucleic acid binding|protein binding|Rab GTPase activator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 34 AGAAATAGATCAATTATTGTG 0.358000 T """COL1A1, CDH11, ZNF9, OMD""" aneurysmal bone cysts 9 62 0 0 0.008291 0 0 SCN1A 6323 broad.mit.edu 37 2 166854606 166854606 + Missense_Mutation SNP A A G TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 125ccb76-bf8d-4ce7-a04c-4424d6da0322 8e550489-3da4-4a0f-8c20-b649aa5e7648 g.chr2:166854606A>G ENST00000423058.2 - 23 4435 c.4418T>C c.(4417-4419)tTc>tCc p.F1473S SCN1A_ENST00000375405.3_Missense_Mutation_p.F1462S|AC010127.3_ENST00000595647.1_RNA|SCN1A_ENST00000409050.1_Missense_Mutation_p.F1445S|SCN1A_ENST00000303395.4_Missense_Mutation_p.F1473S|AC010127.3_ENST00000597623.1_RNA NM_001165963.1|NM_001202435.1 NP_001159435.1|NP_001189364.1 P35498 SCN1A_HUMAN sodium channel, voltage-gated, type I, alpha subunit 1473 voltage-gated sodium channel complex voltage-gated sodium channel activity NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1) 200 Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909) GTTCAAGGTGAAGAAGGACCC 0.343000 4 39 0 0 0.000248 0 0 CCDC47 57003 broad.mit.edu 37 17 61838631 61838631 + Missense_Mutation SNP A A C TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 125ccb76-bf8d-4ce7-a04c-4424d6da0322 8e550489-3da4-4a0f-8c20-b649aa5e7648 g.chr17:61838631A>C ENST00000225726.5 - 5 1010 c.628T>G c.(628-630)Tct>Gct p.S210A CCDC47_ENST00000403162.3_Missense_Mutation_p.S210A|CCDC47_ENST00000582252.1_Missense_Mutation_p.S210A NM_020198.2 NP_064583.2 Q96A33 CCD47_HUMAN coiled-coil domain containing 47 210 integral to membrane protein binding endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)|skin(2)|urinary_tract(1) 18 ACTCGACCAGAACACCACAGG 0.433000 17 96 0 0 0.004990 0 0 ABL2 27 broad.mit.edu 37 1 179077353 179077353 + Missense_Mutation SNP C C G TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 125ccb76-bf8d-4ce7-a04c-4424d6da0322 8e550489-3da4-4a0f-8c20-b649aa5e7648 g.chr1:179077353C>G ENST00000502732.1 - 12 3252 c.3049G>C c.(3049-3051)Gaa>Caa p.E1017Q ABL2_ENST00000507173.1_Missense_Mutation_p.E893Q|ABL2_ENST00000511413.1_Missense_Mutation_p.E914Q|ABL2_ENST00000512653.1_Missense_Mutation_p.E1002Q|ABL2_ENST00000504405.1_Missense_Mutation_p.E878Q|ABL2_ENST00000344730.3_Missense_Mutation_p.E899Q|ABL2_ENST00000367623.4_Missense_Mutation_p.E996Q|ABL2_ENST00000408940.3_Missense_Mutation_p.E981Q NM_001168236.1|NM_001168237.1|NM_001168238.1|NM_007314.3 NP_001161708.1|NP_001161709.1|NP_001161710.1|NP_009298.1 P42684 ABL2_HUMAN c-abl oncogene 2, non-receptor tyrosine kinase 1017 Pro-rich. axon guidance|cell adhesion|peptidyl-tyrosine phosphorylation|positive regulation of oxidoreductase activity|signal transduction cytoskeleton|cytosol ATP binding|magnesium ion binding|manganese ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding breast(8)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 65 Adenosine triphosphate(DB00171)|Dasatinib(DB01254) TCCTGTGTTTCTGATGTGGAC 0.587000 T ETV6 AML 19 119 0 0 0.008871 0 0 CCT2 10576 broad.mit.edu 37 12 69987352 69987352 + Missense_Mutation SNP A A T TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 125ccb76-bf8d-4ce7-a04c-4424d6da0322 8e550489-3da4-4a0f-8c20-b649aa5e7648 g.chr12:69987352A>T ENST00000543146.2 + 10 1282 c.800A>T c.(799-801)cAt>cTt p.H267L CCT2_ENST00000544368.2_Missense_Mutation_p.H314L|CCT2_ENST00000299300.6_Missense_Mutation_p.H314L NM_001198842.1 NP_001185771.1 P78371 TCPB_HUMAN chaperonin containing TCP1, subunit 2 (beta) 314 'de novo' posttranslational protein folding nucleus ATP binding|unfolded protein binding central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(2)|skin(2)|stomach(1) 24 all_cancers(2;7.7e-106)|Breast(13;2.15e-06)|Esophageal squamous(21;0.187) Epithelial(6;2.72e-18)|GBM - Glioblastoma multiforme(2;2.58e-10)|Lung(24;0.000185)|OV - Ovarian serous cystadenocarcinoma(12;0.00126)|STAD - Stomach adenocarcinoma(21;0.00501)|Kidney(9;0.143)|LUSC - Lung squamous cell carcinoma(43;0.24) GCTATTGAGCATGCAGATTTT 0.358000 9 45 0 0 0.008291 0 0 GATAD2A 54815 broad.mit.edu 37 19 19603492 19603492 + Missense_Mutation SNP C C G TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 125ccb76-bf8d-4ce7-a04c-4424d6da0322 8e550489-3da4-4a0f-8c20-b649aa5e7648 g.chr19:19603492C>G ENST00000404158.1 + 6 923 c.505C>G c.(505-507)Caa>Gaa p.Q169E GATAD2A_ENST00000537887.1_Intron|GATAD2A_ENST00000494516.1_Intron|GATAD2A_ENST00000360315.3_Missense_Mutation_p.Q169E|GATAD2A_ENST00000358713.3_Missense_Mutation_p.Q169E|GATAD2A_ENST00000252577.5_Missense_Mutation_p.Q169E|GATAD2A_ENST00000429563.2_Missense_Mutation_p.Q26E Q86YP4 P66A_HUMAN GATA zinc finger domain containing 2A 169 DNA methylation|negative regulation of transcription, DNA-dependent nuclear speck|NuRD complex protein binding, bridging|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|urinary_tract(1) 13 GCGGCAGAGTCAAATACAAAA 0.517000 5 54 0 0 0.000602 0 0 BPIFB2 80341 broad.mit.edu 37 20 31608358 31608358 + Missense_Mutation SNP C C A TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 125ccb76-bf8d-4ce7-a04c-4424d6da0322 8e550489-3da4-4a0f-8c20-b649aa5e7648 g.chr20:31608358C>A ENST00000170150.3 + 13 1354 c.1159C>A c.(1159-1161)Ctc>Atc p.L387I NM_025227.1 NP_079503.1 Q8N4F0 BPIL1_HUMAN BPI fold containing family B, member 2 387 extracellular region lipid binding GGATGTCCAGCTCACGGTGGC 0.617000 9 93 0.000673444 0.0012017 0.008291 1 0 NBPF3 84224 broad.mit.edu 37 1 21800026 21800026 + Silent SNP C C T rs138236134 TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 125ccb76-bf8d-4ce7-a04c-4424d6da0322 8e550489-3da4-4a0f-8c20-b649aa5e7648 g.chr1:21800026C>T ENST00000318220.6 + 10 1768 c.720C>T c.(718-720)ctC>ctT p.L240L NBPF3_ENST00000454000.2_Silent_p.L226L|NBPF3_ENST00000342104.5_Silent_p.L296L|NBPF3_ENST00000318249.5_Silent_p.L296L Q9H094 NBPF3_HUMAN neuroblastoma breakpoint family, member 3 296 NBPF 1. cytoplasm breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(2) 20 all_lung(284;2.16e-05)|Lung NSC(340;2.19e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00432)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|OV - Ovarian serous cystadenocarcinoma(117;7.53e-27)|COAD - Colon adenocarcinoma(152;1.18e-05)|GBM - Glioblastoma multiforme(114;3.47e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000143)|STAD - Stomach adenocarcinoma(196;0.00306)|KIRC - Kidney renal clear cell carcinoma(1967;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199) ACTCAACTCTCATTGACTCAT 0.463000 31 222 0 0 0.001786 0 0 TP53 7157 broad.mit.edu 37 17 7578442 7578442 + Missense_Mutation SNP T T C rs148924904 TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 125ccb76-bf8d-4ce7-a04c-4424d6da0322 8e550489-3da4-4a0f-8c20-b649aa5e7648 g.chr17:7578442T>C ENST00000420246.2 - 5 620 c.488A>G c.(487-489)tAc>tGc p.Y163C TP53_ENST00000455263.2_Missense_Mutation_p.Y163C|TP53_ENST00000269305.4_Missense_Mutation_p.Y163C|TP53_ENST00000413465.2_Missense_Mutation_p.Y163C|TP53_ENST00000445888.2_Missense_Mutation_p.Y163C|TP53_ENST00000359597.4_Missense_Mutation_p.Y163C NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 163 Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42. Y -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|Y -> D (in sporadic cancers; somatic mutation).|Y -> F (in a sporadic cancer; somatic mutation).|Y -> H (in sporadic cancers; somatic mutation).|Y -> N (in sporadic cancers; somatic mutation).|Y -> S (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.Y163C(134)|p.Y70C(12)|p.Y31C(12)|p.0?(8)|p.Y163S(7)|p.V157_C176del20(1)|p.Y31S(1)|p.Y163fs*1(1)|p.Y70S(1)|p.Y163_Q165delYKQ(1)|p.P151_V173del23(1)|p.Y163fs*14(1)|p.S149fs*72(1)|p.A159_Q167delAMAIYKQSQ(1)|p.I162_Y163delIY(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) TGACTGCTTGTAGATGGCCAT 0.622000 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) 16 50 0 0 0.004990 0 0 HUWE1 10075 broad.mit.edu 37 X 53619384 53619384 + Missense_Mutation SNP G G C TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 125ccb76-bf8d-4ce7-a04c-4424d6da0322 8e550489-3da4-4a0f-8c20-b649aa5e7648 g.chrX:53619384G>C ENST00000342160.3 - 32 4403 c.3946C>G c.(3946-3948)Caa>Gaa p.Q1316E HUWE1_ENST00000218328.8_Missense_Mutation_p.Q1316E|HUWE1_ENST00000262854.6_Missense_Mutation_p.Q1316E Q7Z6Z7 HUWE1_HUMAN HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase 1316 UBA. base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasm|nucleus DNA binding|protein binding|ubiquitin-protein ligase activity NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2) 153 TGGTTGACTTGAGGTTCCCGG 0.537000 18 52 0 0 0.001523 0 0 MAST1 22983 broad.mit.edu 37 19 12951862 12951862 + Missense_Mutation SNP C C G TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 125ccb76-bf8d-4ce7-a04c-4424d6da0322 8e550489-3da4-4a0f-8c20-b649aa5e7648 g.chr19:12951862C>G ENST00000251472.4 + 3 269 c.230C>G c.(229-231)tCg>tGg p.S77W MAST1_ENST00000591495.1_Missense_Mutation_p.S73W NM_014975.2 NP_055790.1 Q9Y2H9 MAST1_HUMAN microtubule associated serine/threonine kinase 1 77 cytoskeleton organization|intracellular protein kinase cascade cytoplasm|cytoskeleton|plasma membrane ATP binding|magnesium ion binding|protein serine/threonine kinase activity NS(1)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(20)|ovary(5)|prostate(5)|skin(3) 56 GCCCACTTCTCGTTTGCCTCC 0.632000 17 77 0 0 0.006122 0 0 TMEM177 80775 broad.mit.edu 37 2 120439337 120439337 + Missense_Mutation SNP G G C TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 125ccb76-bf8d-4ce7-a04c-4424d6da0322 8e550489-3da4-4a0f-8c20-b649aa5e7648 g.chr2:120439337G>C ENST00000424086.1 + 2 1381 c.908G>C c.(907-909)aGg>aCg p.R303T TMEM177_ENST00000401466.1_Missense_Mutation_p.R303T|TMEM177_ENST00000272521.6_Missense_Mutation_p.R303T|TMEM177_ENST00000409951.1_Intron|TMEM177_ENST00000496203.1_Intron NM_001105198.1 NP_001098668.1 Q53S58 TM177_HUMAN transmembrane protein 177 303 integral to membrane breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|upper_aerodigestive_tract(1) 13 Colorectal(110;0.196) CAGATGTGGAGGGGGATGCTC 0.577000 9 80 0 0 0.008291 0 0 CCDC132 55610 broad.mit.edu 37 7 92987685 92987685 + Missense_Mutation SNP C C G TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 125ccb76-bf8d-4ce7-a04c-4424d6da0322 8e550489-3da4-4a0f-8c20-b649aa5e7648 g.chr7:92987685C>G ENST00000544910.1 + 29 2962 c.2742C>G c.(2740-2742)atC>atG p.I914M CCDC132_ENST00000305866.5_Missense_Mutation_p.I944M|CCDC132_ENST00000535481.1_Missense_Mutation_p.I664M|CCDC132_ENST00000541136.1_3'UTR NM_001257998.1 NP_001244927.1 Q96JG6 CC132_HUMAN coiled-coil domain containing 132 944 endometrium(1)|large_intestine(2)|lung(5) 8 all_cancers(62;2.64e-11)|all_epithelial(64;1.4e-10)|Breast(17;0.000675)|Lung NSC(181;0.0618)|all_lung(186;0.0837) STAD - Stomach adenocarcinoma(171;0.000302) GATCCCATATCAATAAGAAAG 0.383000 12 77 0 0 0.000978 0 0 PKDREJ 10343 broad.mit.edu 37 22 46653078 46653078 + Missense_Mutation SNP G G C TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 125ccb76-bf8d-4ce7-a04c-4424d6da0322 8e550489-3da4-4a0f-8c20-b649aa5e7648 g.chr22:46653078G>C ENST00000253255.5 - 1 6141 c.6142C>G c.(6142-6144)Cac>Gac p.H2048D NM_006071.1 NP_006062.1 Q9NTG1 PKDRE_HUMAN polycystin (PKD) family receptor for egg jelly 2048 acrosome reaction|neuropeptide signaling pathway integral to membrane calcium ion binding|ion channel activity NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2) 73 Ovarian(80;0.00965)|all_neural(38;0.0416) UCEC - Uterine corpus endometrioid carcinoma (28;0.00459) CTCATAATGTGATCTACCTGA 0.438000 6 59 0 0 0.003080 0 0 CEP152 22995 broad.mit.edu 37 15 49054667 49054667 + Missense_Mutation SNP T T C TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 125ccb76-bf8d-4ce7-a04c-4424d6da0322 8e550489-3da4-4a0f-8c20-b649aa5e7648 g.chr15:49054667T>C ENST00000380950.2 - 18 2670 c.2483A>G c.(2482-2484)aAg>aGg p.K828R CEP152_ENST00000399334.3_Missense_Mutation_p.K828R|CEP152_ENST00000325747.5_Missense_Mutation_p.K735R NM_001194998.1|NM_014985.3 NP_001181927.1|NP_055800.2 O94986 CE152_HUMAN centrosomal protein 152kDa 828 centrosome duplication|G2/M transition of mitotic cell cycle centrosome|cytosol protein kinase binding breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(16)|lung(30)|ovary(1)|prostate(2)|skin(2) 63 all_lung(180;0.0428) all cancers(107;1.08e-07)|GBM - Glioblastoma multiforme(94;2.32e-06) GGCTATGTCCTTCTCTTGTTC 0.373000 40 70 0 0 0.006999 0 0 PKDREJ 10343 broad.mit.edu 37 22 46652485 46652485 + Silent SNP C C T TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 125ccb76-bf8d-4ce7-a04c-4424d6da0322 8e550489-3da4-4a0f-8c20-b649aa5e7648 g.chr22:46652485C>T ENST00000253255.5 - 1 6734 c.6735G>A c.(6733-6735)ggG>ggA p.G2245G NM_006071.1 NP_006062.1 Q9NTG1 PKDRE_HUMAN polycystin (PKD) family receptor for egg jelly 2245 acrosome reaction|neuropeptide signaling pathway integral to membrane calcium ion binding|ion channel activity NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2) 73 Ovarian(80;0.00965)|all_neural(38;0.0416) UCEC - Uterine corpus endometrioid carcinoma (28;0.00459) CCATTTTCTTCCCGTTGATGT 0.473000 10 94 0 0 0.000978 0 0 MYH1 4619 broad.mit.edu 37 17 10408257 10408257 + Missense_Mutation SNP G G T TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 125ccb76-bf8d-4ce7-a04c-4424d6da0322 8e550489-3da4-4a0f-8c20-b649aa5e7648 g.chr17:10408257G>T ENST00000226207.5 - 22 2655 c.2561C>A c.(2560-2562)gCc>gAc p.A854D CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA NM_005963.3 NP_005954.3 P12882 MYH1_HUMAN myosin, heavy chain 1, skeletal muscle, adult 854 muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|motor activity NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5) 176 CTTCATGTTGGCCATCTCCTT 0.443000 18 98 0.000175454 0.00031745 0.001523 1 0 CTAGE1 64693 broad.mit.edu 37 18 19995815 19995815 + Missense_Mutation SNP C C T TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 125ccb76-bf8d-4ce7-a04c-4424d6da0322 8e550489-3da4-4a0f-8c20-b649aa5e7648 g.chr18:19995815C>T ENST00000391403.2 - 1 2063 c.1960G>A c.(1960-1962)Gaa>Aaa p.E654K NM_172241.2 NP_758441.2 Q96RT6 CTGE2_HUMAN cutaneous T-cell lymphoma-associated antigen 1 654 integral to membrane cervix(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(19)|ovary(1) 27 all_cancers(21;0.000361)|all_epithelial(16;9.61e-06)|Colorectal(14;0.0533)|Lung NSC(20;0.0605)|Ovarian(2;0.116)|all_lung(20;0.135) CCAGTTGCTTCATTTTCAGCG 0.453000 24 244 0 0 0.003954 0 0 PKDREJ 10343 broad.mit.edu 37 22 46654120 46654120 + Silent SNP C C T TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 125ccb76-bf8d-4ce7-a04c-4424d6da0322 8e550489-3da4-4a0f-8c20-b649aa5e7648 g.chr22:46654120C>T ENST00000253255.5 - 1 5099 c.5100G>A c.(5098-5100)aaG>aaA p.K1700K NM_006071.1 NP_006062.1 Q9NTG1 PKDRE_HUMAN polycystin (PKD) family receptor for egg jelly 1700 acrosome reaction|neuropeptide signaling pathway integral to membrane calcium ion binding|ion channel activity NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2) 73 Ovarian(80;0.00965)|all_neural(38;0.0416) UCEC - Uterine corpus endometrioid carcinoma (28;0.00459) TGATCCTCTTCTTTCTTTTGA 0.418000 7 82 0 0 0.003080 0 0 RAG1 5896 broad.mit.edu 37 11 36597850 36597850 + Missense_Mutation SNP C C G TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 125ccb76-bf8d-4ce7-a04c-4424d6da0322 8e550489-3da4-4a0f-8c20-b649aa5e7648 g.chr11:36597850C>G ENST00000299440.5 + 2 3108 c.2996C>G c.(2995-2997)tCc>tGc p.S999C NM_000448.2 NP_000439.1 P15918 RAG1_HUMAN recombination activating gene 1 999 histone monoubiquitination|immune response|pre-B cell allelic exclusion|protein autoubiquitination|T cell differentiation in thymus|V(D)J recombination nucleus endonuclease activity|histone binding|protein homodimerization activity|sequence-specific DNA binding|ubiquitin-protein ligase activity|zinc ion binding NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1) 65 all_lung(20;0.226) all_hematologic(20;0.107) TTGTACACCTCCAAATACCTC 0.448000 Familial Hemophagocytic Lymphohistiocytosis 14 73 0 0 0.003163 0 0 GPR98 84059 broad.mit.edu 37 5 90136535 90136535 + Missense_Mutation SNP G G C TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 125ccb76-bf8d-4ce7-a04c-4424d6da0322 8e550489-3da4-4a0f-8c20-b649aa5e7648 g.chr5:90136535G>C ENST00000405460.2 + 78 16848 c.16752G>C c.(16750-16752)gaG>gaC p.E5584D GPR98_ENST00000425867.2_Missense_Mutation_p.E1245D NM_032119.3 NP_115495.3 Q8WXG9 GPR98_HUMAN G protein-coupled receptor 98 5584 cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance cell surface|cytoplasm|integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6) 269 all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192) OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20) TAACGCCAGAGACAGGATCTT 0.428000 28 190 0 0 0.008361 0 0 NAALADL1 10004 broad.mit.edu 37 11 64813736 64813736 + Missense_Mutation SNP C C T TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 125ccb76-bf8d-4ce7-a04c-4424d6da0322 8e550489-3da4-4a0f-8c20-b649aa5e7648 g.chr11:64813736C>T ENST00000358658.3 - 15 1807 c.1780G>A c.(1780-1782)Gag>Aag p.E594K NAALADL1_ENST00000355721.3_Missense_Mutation_p.E553K|NAALADL1_ENST00000339885.2_3'UTR|NAALADL1_ENST00000356632.3_Missense_Mutation_p.E559K|NAALADL1_ENST00000526799.1_5'UTR|NAALADL1_ENST00000528884.1_5'UTR|NAALADL1_ENST00000340252.4_Missense_Mutation_p.E645K|NAALADL1_ENST00000355369.2_3'UTR NM_005468.2 NP_005459.2 Q9UQQ1 NALDL_HUMAN N-acetylated alpha-linked acidic dipeptidase-like 1 594 proteolysis apical plasma membrane|integral to membrane carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2) 29 CGGAGTGTCTCACTGTAGTCA 0.612000 12 50 0 0 0.001368 0 0 PIGB 9488 broad.mit.edu 37 15 55622047 55622047 + Missense_Mutation SNP G G A TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 125ccb76-bf8d-4ce7-a04c-4424d6da0322 8e550489-3da4-4a0f-8c20-b649aa5e7648 g.chr15:55622047G>A ENST00000164305.5 + 5 939 c.648G>A c.(646-648)atG>atA p.M216I PIGB_ENST00000539642.1_Missense_Mutation_p.M21I NM_004855.4 NP_004846.4 Q92521 PIGB_HUMAN phosphatidylinositol glycan anchor biosynthesis, class B 216 C-terminal protein lipidation|preassembly of GPI anchor in ER membrane integral to membrane|intrinsic to endoplasmic reticulum membrane glycolipid mannosyltransferase activity endometrium(3)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1) 11 all cancers(107;0.0255) CAAAGTCTATGAACAGGTAAG 0.308000 23 53 0 0 0.001882 0 0 RAC3 5881 broad.mit.edu 37 17 79991361 79991361 + Silent SNP C C T TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 125ccb76-bf8d-4ce7-a04c-4424d6da0322 8e550489-3da4-4a0f-8c20-b649aa5e7648 g.chr17:79991361C>T ENST00000306897.4 + 5 472 c.334C>T c.(334-336)Ctg>Ttg p.L112L NM_005052.2 NP_005043.1 P60763 RAC3_HUMAN ras-related C3 botulinum toxin substrate 3 (rho family, small GTP binding protein Rac3) 112 actin cytoskeleton organization|cell projection assembly|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|endomembrane system|filamentous actin|growth cone|lamellipodium|neuronal cell body|plasma membrane GTP binding|GTPase activity|protein binding NS(1)|kidney(1)|skin(1) 3 all_neural(118;0.0878)|Ovarian(332;0.12)|all_lung(278;0.246) BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0191) GCCCATCCTCCTGGTGGGCAC 0.672000 4 47 0 0 0.001168 0 0 ZAN 7455 broad.mit.edu 37 7 100345255 100345255 + RNA SNP A A G TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 125ccb76-bf8d-4ce7-a04c-4424d6da0322 8e550489-3da4-4a0f-8c20-b649aa5e7648 g.chr7:100345255A>G ENST00000542585.1 + 0 1162 ZAN_ENST00000348028.3_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000427578.1_RNA NM_003386.1 NP_003377.1 Q9Y493 ZAN_HUMAN zonadhesin (gene/pseudogene) binding of sperm to zona pellucida|cell-cell adhesion integral to membrane|plasma membrane NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3) 139 Lung NSC(181;0.041)|all_lung(186;0.0581) STAD - Stomach adenocarcinoma(171;0.19) CAGCCGTGGGACGGATACAGG 0.527000 3 58 0 0 0.000248 0 0 KBTBD12 166348 broad.mit.edu 37 3 127646718 127646718 + Missense_Mutation SNP G G A TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 125ccb76-bf8d-4ce7-a04c-4424d6da0322 8e550489-3da4-4a0f-8c20-b649aa5e7648 g.chr3:127646718G>A ENST00000405109.1 + 3 1649 c.1182G>A c.(1180-1182)atG>atA p.M394I KBTBD12_ENST00000343941.4_Intron|KBTBD12_ENST00000405256.1_Missense_Mutation_p.M394I|KBTBD12_ENST00000492025.1_Intron|KBTBD12_ENST00000407609.3_Start_Codon_SNP_p.M1I Q3ZCT8 KBTBC_HUMAN kelch repeat and BTB (POZ) domain containing 12 394 endometrium(1)|large_intestine(6)|lung(5)|ovary(1) 13 GAGGACAGATGAAAATTAAAA 0.393000 20 146 0 0 0.001523 0 0 TTC30A 92104 broad.mit.edu 37 2 178481760 178481760 + Missense_Mutation SNP T T C TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 125ccb76-bf8d-4ce7-a04c-4424d6da0322 8e550489-3da4-4a0f-8c20-b649aa5e7648 g.chr2:178481760T>C ENST00000355689.4 - 1 1934 c.1670A>G c.(1669-1671)aAa>aGa p.K557R AC073834.3_ENST00000357045.4_RNA NM_152275.3 NP_689488.3 Q86WT1 TT30A_HUMAN tetratricopeptide repeat domain 30A 557 cell projection organization cilium binding autonomic_ganglia(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 30 OV - Ovarian serous cystadenocarcinoma(117;0.000423)|Epithelial(96;0.00373)|all cancers(119;0.0169) ATAGTTTCCTTTGGCACAATA 0.383000 4 242 0 0 0.000248 0 0 ZNF783 100289678 broad.mit.edu 37 7 148978631 148978631 + Missense_Mutation SNP G G A TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 125ccb76-bf8d-4ce7-a04c-4424d6da0322 8e550489-3da4-4a0f-8c20-b649aa5e7648 g.chr7:148978631G>A ENST00000434415.1 + 6 1001 c.838G>A c.(838-840)Gaa>Aaa p.E280K ZNF783_ENST00000489518.1_Intron NM_001195220.1 NP_001182149.1 C9J9J2 C9J9J2_HUMAN zinc finger family member 783 280 regulation of transcription, DNA-dependent intracellular nucleic acid binding|zinc ion binding cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|prostate(1) 22 Melanoma(164;0.15) OV - Ovarian serous cystadenocarcinoma(82;0.0014) GGCACAGTCTGAAGACGAGAT 0.627000 10 56 0 0 0.000978 0 0 ZNF33B 7582 broad.mit.edu 37 10 43089160 43089160 + Missense_Mutation SNP T T C TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 125ccb76-bf8d-4ce7-a04c-4424d6da0322 8e550489-3da4-4a0f-8c20-b649aa5e7648 g.chr10:43089160T>C ENST00000359467.3 - 5 1352 c.1238A>G c.(1237-1239)tAt>tGt p.Y413C ZNF33B_ENST00000486187.1_RNA NM_006955.1 NP_008886.1 Q06732 ZN33B_HUMAN zinc finger protein 33B 413 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(15)|skin(1)|stomach(1) 29 ATTACACTGATAGGGTTTCTC 0.423000 3 105 0 0 0.004672 0 0 PKDREJ 10343 broad.mit.edu 37 22 46654948 46654948 + Missense_Mutation SNP C C T TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 125ccb76-bf8d-4ce7-a04c-4424d6da0322 8e550489-3da4-4a0f-8c20-b649aa5e7648 g.chr22:46654948C>T ENST00000253255.5 - 1 4271 c.4272G>A c.(4270-4272)atG>atA p.M1424I NM_006071.1 NP_006062.1 Q9NTG1 PKDRE_HUMAN polycystin (PKD) family receptor for egg jelly 1424 acrosome reaction|neuropeptide signaling pathway integral to membrane calcium ion binding|ion channel activity NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2) 73 Ovarian(80;0.00965)|all_neural(38;0.0416) UCEC - Uterine corpus endometrioid carcinoma (28;0.00459) TCATTGATCTCATGTATTTCC 0.348000 8 60 0 0 0.003080 0 0 PIK3R4 30849 broad.mit.edu 37 3 130463505 130463505 + Missense_Mutation SNP G G C TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 125ccb76-bf8d-4ce7-a04c-4424d6da0322 8e550489-3da4-4a0f-8c20-b649aa5e7648 g.chr3:130463505G>C ENST00000356763.3 - 2 1115 c.558C>G c.(556-558)ttC>ttG p.F186L NM_014602.2 NP_055417.1 Q99570 PI3R4_HUMAN phosphoinositide-3-kinase, regulatory subunit 4 186 Protein kinase. fibroblast growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway cytosol ATP binding|protein binding|protein serine/threonine kinase activity NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(6)|large_intestine(16)|lung(28)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1) 77 ATGTGTCAAAGAAATAATTGA 0.408000 11 48 0 0 0.008291 0 0 CYP4F11 57834 broad.mit.edu 37 19 16025612 16025612 + Silent SNP C C T TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 125ccb76-bf8d-4ce7-a04c-4424d6da0322 8e550489-3da4-4a0f-8c20-b649aa5e7648 g.chr19:16025612C>T ENST00000326742.7 - 9 1210 c.1209G>A c.(1207-1209)acG>acA p.T403T CYP4F11_ENST00000402119.3_Silent_p.T403T|CYP4F11_ENST00000248041.7_Silent_p.T403T Q9HBI6 CP4FB_HUMAN cytochrome P450, family 4, subfamily F, polypeptide 11 403 inflammatory response|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome aromatase activity|electron carrier activity|heme binding NS(1)|breast(3)|endometrium(4)|large_intestine(2)|lung(11)|ovary(1)|skin(3) 25 CAAAGTCCTGCGTGCAACATC 0.632000 19 106 0 0 0.007413 0 0 TTN 7273 broad.mit.edu 37 2 179440094 179440094 + Missense_Mutation SNP C C G TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 125ccb76-bf8d-4ce7-a04c-4424d6da0322 8e550489-3da4-4a0f-8c20-b649aa5e7648 g.chr2:179440094C>G ENST00000589042.1 - 326 70989 c.70765G>C c.(70765-70767)Gaa>Caa p.E23589Q TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.E14716Q|TTN_ENST00000342992.6_Missense_Mutation_p.E21021Q|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.E14649Q|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.E21948Q|TTN_ENST00000460472.2_Missense_Mutation_p.E14524Q|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000586831.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 21948 Fibronectin type-III 71. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) ACAACACATTCTAACCCTTTC 0.507000 11 67 0 0 0.000978 0 0 ELN 2006 broad.mit.edu 37 7 73466086 73466086 + Missense_Mutation SNP G G C TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 125ccb76-bf8d-4ce7-a04c-4424d6da0322 8e550489-3da4-4a0f-8c20-b649aa5e7648 g.chr7:73466086G>C ENST00000252034.7 + 16 1205 c.806G>C c.(805-807)gGa>gCa p.G269A ELN_ENST00000380553.4_Missense_Mutation_p.G152A|ELN_ENST00000380575.4_Missense_Mutation_p.G259A|ELN_ENST00000380576.5_Missense_Mutation_p.G269A|ELN_ENST00000380562.4_Missense_Mutation_p.G269A|ELN_ENST00000357036.5_Missense_Mutation_p.G274A|ELN_ENST00000445912.1_Missense_Mutation_p.G269A|ELN_ENST00000320399.6_Missense_Mutation_p.G269A|ELN_ENST00000320492.7_Missense_Mutation_p.G233A|ELN_ENST00000358929.4_Missense_Mutation_p.G269A|ELN_ENST00000458204.1_Missense_Mutation_p.G259A|ELN_ENST00000380584.4_Missense_Mutation_p.G255A|ELN_ENST00000429192.1_Missense_Mutation_p.G274A|ELN_ENST00000414324.1_Missense_Mutation_p.G264A NM_000501.2 NP_000492.2 P15502 ELN_HUMAN elastin 269 Ala-rich. blood circulation|cell proliferation|organ morphogenesis|respiratory gaseous exchange proteinaceous extracellular matrix extracellular matrix constituent conferring elasticity|protein binding breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(4)|pancreas(2)|prostate(1)|skin(2)|stomach(1) 32 Lung NSC(55;0.159) Rofecoxib(DB00533) ACAGGTGCTGGAGCAGCCGGA 0.597000 T PAX5 B-ALL """Supravalvular Aortic Stenosis, Cutis laxa , Williams-Beuren Syndrome""" OREG0018112 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 4 34 0 0 0.000602 0 0 PKDREJ 10343 broad.mit.edu 37 22 46654926 46654926 + Missense_Mutation SNP C C T TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 125ccb76-bf8d-4ce7-a04c-4424d6da0322 8e550489-3da4-4a0f-8c20-b649aa5e7648 g.chr22:46654926C>T ENST00000253255.5 - 1 4293 c.4294G>A c.(4294-4296)Gaa>Aaa p.E1432K NM_006071.1 NP_006062.1 Q9NTG1 PKDRE_HUMAN polycystin (PKD) family receptor for egg jelly 1432 acrosome reaction|neuropeptide signaling pathway integral to membrane calcium ion binding|ion channel activity p.E1432*(1) NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2) 73 Ovarian(80;0.00965)|all_neural(38;0.0416) UCEC - Uterine corpus endometrioid carcinoma (28;0.00459) AAGACACTTTCAATTCCTATC 0.348000 8 61 0 0 0.003080 0 0 ATP6V0A4 50617 broad.mit.edu 37 7 138429966 138429966 + Missense_Mutation SNP G G C TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 125ccb76-bf8d-4ce7-a04c-4424d6da0322 8e550489-3da4-4a0f-8c20-b649aa5e7648 g.chr7:138429966G>C ENST00000310018.2 - 14 1662 c.1380C>G c.(1378-1380)atC>atG p.I460M ATP6V0A4_ENST00000353492.4_Missense_Mutation_p.I460M|ATP6V0A4_ENST00000393054.1_Missense_Mutation_p.I460M NM_020632.2|NM_130840.2 NP_065683.2|NP_570855.2 Q9HBG4 VPP4_HUMAN ATPase, H+ transporting, lysosomal V0 subunit a4 460 cellular iron ion homeostasis|excretion|insulin receptor signaling pathway|ossification|regulation of pH|sensory perception of sound|transferrin transport apical plasma membrane|brush border membrane|endosome membrane|integral to membrane|proton-transporting two-sector ATPase complex, proton-transporting domain ATPase binding|hydrogen ion transmembrane transporter activity NS(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 36 AACCCGTGTAGATGGAGAAGA 0.488000 9 88 0 0 0.004482 0 0 CTSS 1520 broad.mit.edu 37 1 150722557 150722557 + Missense_Mutation SNP C C T TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 125ccb76-bf8d-4ce7-a04c-4424d6da0322 8e550489-3da4-4a0f-8c20-b649aa5e7648 g.chr1:150722557C>T ENST00000368985.3 - 6 978 c.718G>A c.(718-720)Gaa>Aaa p.E240K CTSS_ENST00000448301.2_Missense_Mutation_p.E190K|CTSS_ENST00000480760.1_Intron NM_001199739.1|NM_004079.4 NP_001186668.1|NP_004070.3 P25774 CATS_HUMAN cathepsin S 240 immune response|proteolysis extracellular region|lysosome cysteine-type endopeptidase activity cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|skin(1)|stomach(1)|urinary_tract(1) 15 all_cancers(9;6.17e-52)|all_epithelial(9;9.7e-43)|all_lung(15;5.74e-35)|Lung NSC(24;2.09e-31)|Breast(34;0.00146)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171) UCEC - Uterine corpus endometrioid carcinoma (35;0.0485)|Epithelial(6;5.02e-21)|all cancers(9;1.28e-20)|OV - Ovarian serous cystadenocarcinoma(6;1.09e-14)|BRCA - Breast invasive adenocarcinoma(12;0.00501)|LUSC - Lung squamous cell carcinoma(543;0.171) GCCACAGCTTCTTTCAGGACA 0.393000 8 29 0 0 0.003080 0 0 AKR7A2 8574 broad.mit.edu 37 1 19632584 19632584 + Silent SNP G G A TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 125ccb76-bf8d-4ce7-a04c-4424d6da0322 8e550489-3da4-4a0f-8c20-b649aa5e7648 g.chr1:19632584G>A ENST00000235835.3 - 6 867 c.846C>T c.(844-846)gcC>gcT p.A282A NM_003689.3 NP_003680.2 O43488 ARK72_HUMAN aldo-keto reductase family 7, member A2 (aflatoxin aldehyde reductase) 282 carbohydrate metabolic process|cellular aldehyde metabolic process Golgi apparatus alditol:NADP+ 1-oxidoreductase activity|electron carrier activity p.A282A(1) central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 9 Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Breast(348;0.00049)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00461)|BRCA - Breast invasive adenocarcinoma(304;1.83e-05)|Kidney(64;0.000167)|GBM - Glioblastoma multiforme(114;0.00115)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649) CGCCATATGCGGCCTGCAGGG 0.632000 10 66 0 0 0.008291 0 0 ZNF7 7553 broad.mit.edu 37 8 146067676 146067676 + Nonsense_Mutation SNP C C G TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 125ccb76-bf8d-4ce7-a04c-4424d6da0322 8e550489-3da4-4a0f-8c20-b649aa5e7648 g.chr8:146067676C>G ENST00000528372.1 + 5 1424 c.1184C>G c.(1183-1185)tCa>tGa p.S395* ZNF7_ENST00000446747.2_Nonsense_Mutation_p.S406*|ZNF7_ENST00000544249.1_Nonsense_Mutation_p.S299*|ZNF7_ENST00000325241.6_Nonsense_Mutation_p.S395*|ZNF7_ENST00000525266.1_Intron|ZNF7_ENST00000325217.5_Intron P17097 ZNF7_HUMAN zinc finger protein 7 395 multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(2)|kidney(1)|large_intestine(7)|lung(6)|ovary(5)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 all_cancers(97;1.03e-11)|all_epithelial(106;6.69e-11)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) Breast(495;0.0812)|Ovarian(118;0.0822)|Acute lymphoblastic leukemia(644;0.143) Epithelial(56;8.75e-39)|OV - Ovarian serous cystadenocarcinoma(54;1.13e-38)|all cancers(56;8.48e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0355)|Colorectal(110;0.055) GBM - Glioblastoma multiforme(99;2.11e-07) CTAAAAGCCTCAGACAGTCCA 0.493000 7 79 0 0 0.001984 0 0 ZNF281 23528 broad.mit.edu 37 1 200376835 200376835 + Missense_Mutation SNP C C G TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 125ccb76-bf8d-4ce7-a04c-4424d6da0322 8e550489-3da4-4a0f-8c20-b649aa5e7648 g.chr1:200376835C>G ENST00000294740.2 - 2 2123 c.1999G>C c.(1999-2001)Gaa>Caa p.E667Q ZNF281_ENST00000367352.3_Missense_Mutation_p.E631Q|ZNF281_ENST00000367353.1_Missense_Mutation_p.E667Q NM_012482.3 NP_036614.1 Q9Y2X9 ZN281_HUMAN zinc finger protein 281 667 negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding breast(4)|endometrium(3)|kidney(3)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 27 TTGGAGTATTCTTGCAACATA 0.403000 8 91 0 0 0.004482 0 0 MYLIP 29116 broad.mit.edu 37 6 16143386 16143386 + Silent SNP G G T TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 125ccb76-bf8d-4ce7-a04c-4424d6da0322 8e550489-3da4-4a0f-8c20-b649aa5e7648 g.chr6:16143386G>T ENST00000349606.4 + 3 561 c.57G>T c.(55-57)ctG>ctT p.L19L MYLIP_ENST00000356840.3_Silent_p.L200L Q8WY64 MYLIP_HUMAN myosin regulatory light chain interacting protein 200 FERM. cellular component movement|nervous system development cytoplasm|cytoskeleton|extrinsic to membrane cytoskeletal protein binding|ubiquitin-protein ligase activity|zinc ion binding breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 28 Breast(50;0.0799)|Ovarian(93;0.103) all_hematologic(90;0.0895) Epithelial(50;0.241) GGCAGAAACTGCTCATTGGGG 0.433000 4 66 0.00024832 0.000447206 0.000248 1 0 SH3KBP1 30011 broad.mit.edu 37 X 19702122 19702122 + Missense_Mutation SNP T T A TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 125ccb76-bf8d-4ce7-a04c-4424d6da0322 8e550489-3da4-4a0f-8c20-b649aa5e7648 g.chrX:19702122T>A ENST00000397821.3 - 6 835 c.545A>T c.(544-546)gAg>gTg p.E182V SH3KBP1_ENST00000379698.4_Missense_Mutation_p.E145V|SH3KBP1_ENST00000379697.3_Missense_Mutation_p.E226V NM_031892.2 NP_114098.1 Q96B97 SH3K1_HUMAN SH3-domain kinase binding protein 1 182 apoptosis|cell-cell signaling|endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway cytoplasmic vesicle membrane|cytoskeleton|cytosol|focal adhesion|nucleus|synapse|synaptosome SH3 domain binding breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(8)|skin(4) 29 CCCATCACTCTCGGAGCCTGT 0.537000 8 38 0 0 0.003080 0 0 RBM12B 389677 broad.mit.edu 37 8 94746869 94746869 + Silent SNP A A G TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 125ccb76-bf8d-4ce7-a04c-4424d6da0322 8e550489-3da4-4a0f-8c20-b649aa5e7648 g.chr8:94746869A>G ENST00000399300.2 - 3 1983 c.1770T>C c.(1768-1770)ccT>ccC p.P590P RBM12B_ENST00000517700.1_Silent_p.P590P|RBM12B_ENST00000520961.1_Intron NM_203390.2 NP_976324.2 Q8IXT5 RB12B_HUMAN RNA binding motif protein 12B 590 nucleotide binding|RNA binding breast(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2) 30 Breast(36;4.14e-07) BRCA - Breast invasive adenocarcinoma(8;0.0168) CCTCCTCAGAAGGCCGCCTGA 0.617000 21 81 0 0 0.001882 0 0 DCHS2 54798 broad.mit.edu 37 4 155254167 155254167 + Missense_Mutation SNP C C T TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 125ccb76-bf8d-4ce7-a04c-4424d6da0322 8e550489-3da4-4a0f-8c20-b649aa5e7648 g.chr4:155254167C>T ENST00000357232.3 - 9 1695 c.1696G>A c.(1696-1698)Gcc>Acc p.A566T DCHS2_ENST00000339452.1_Missense_Mutation_p.A1065T NM_017639.3 NP_060109.2 Q6V1P9 PCD23_HUMAN dachsous cadherin-related 2 566 Cadherin 4. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 176 all_hematologic(180;0.208) Renal(120;0.0854) LUSC - Lung squamous cell carcinoma(193;0.107) ACCAGCAGGGCTGCCTGAGGA 0.607000 9 84 0 0 0.004482 0 0 ADCY7 113 broad.mit.edu 37 16 50348223 50348223 + Silent SNP C C A TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 125ccb76-bf8d-4ce7-a04c-4424d6da0322 8e550489-3da4-4a0f-8c20-b649aa5e7648 g.chr16:50348223C>A ENST00000394697.2 + 24 3217 c.2877C>A c.(2875-2877)gcC>gcA p.A959A ADCY7_ENST00000254235.3_Silent_p.A959A P51828 ADCY7_HUMAN adenylate cyclase 7 959 Guanylate cyclase 2. activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to ethanol|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of cAMP biosynthetic process|synaptic transmission|transmembrane transport|water transport integral to membrane|plasma membrane adenylate cyclase activity|ATP binding|metal ion binding breast(1)|cervix(1)|endometrium(5)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3) 35 all_cancers(37;0.0127) GBM - Glioblastoma multiforme(240;0.195) Bromocriptine(DB01200) GGCAGCATGCCCACATTGGTG 0.622000 5 37 0.00116845 0.00206602 0.001168 1 0 NBPF9 400818 broad.mit.edu 37 1 144816648 144816648 + Missense_Mutation SNP G G C TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 125ccb76-bf8d-4ce7-a04c-4424d6da0322 8e550489-3da4-4a0f-8c20-b649aa5e7648 g.chr1:144816648G>C ENST00000440491.2 + 5 781 c.781G>C c.(781-783)Gaa>Caa p.E261Q NBPF9_ENST00000281815.8_5'UTR|NBPF9_ENST00000468645.1_3'UTR|NBPF9_ENST00000338347.4_Missense_Mutation_p.E261Q NM_001037675.2 NP_001032764.1 neuroblastoma breakpoint family, member 9 NS(2)|prostate(1) 3 CTCTCATGTTGAACGGGAAGA 0.458000 39 275 0 0 0.008740 0 0 ALMS1 7840 broad.mit.edu 37 2 73828456 73828456 + Missense_Mutation SNP G G A TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 125ccb76-bf8d-4ce7-a04c-4424d6da0322 8e550489-3da4-4a0f-8c20-b649aa5e7648 g.chr2:73828456G>A ENST00000264448.6 + 19 12115 c.12004G>A c.(12004-12006)Gag>Aag p.E4002K ALMS1_ENST00000409009.1_Missense_Mutation_p.E3960K|ALMS1_ENST00000464408.2_3'UTR NM_015120.4 NP_055935.4 Q8TCU4 ALMS1_HUMAN Alstrom syndrome 1 4002 G2/M transition of mitotic cell cycle centrosome|cilium|cytosol|microtubule basal body|spindle pole breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2) 147 GCCACTGCGGGAGCAGAACTG 0.582000 18 106 0 0 0.006122 0 0 UVSSA 57654 broad.mit.edu 37 4 1360143 1360143 + Silent SNP C C T TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 125ccb76-bf8d-4ce7-a04c-4424d6da0322 8e550489-3da4-4a0f-8c20-b649aa5e7648 g.chr4:1360143C>T ENST00000389851.4 + 8 1659 c.1212C>T c.(1210-1212)gaC>gaT p.D404D UVSSA_ENST00000511216.1_Silent_p.D404D|UVSSA_ENST00000511563.1_5'UTR|UVSSA_ENST00000507531.1_Silent_p.D404D NM_020894.2 NP_065945.2 Q2YD98 K1530_HUMAN UV-stimulated scaffold protein A 404 AAGATGAGGACGATGAGGACT 0.587000 20 163 0 0 0.002780 0 0 ZNF512B 57473 broad.mit.edu 37 20 62597525 62597525 + Missense_Mutation SNP G G A TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 125ccb76-bf8d-4ce7-a04c-4424d6da0322 8e550489-3da4-4a0f-8c20-b649aa5e7648 g.chr20:62597525G>A ENST00000450537.1 - 5 1063 c.1003C>T c.(1003-1005)Cgt>Tgt p.R335C ZNF512B_ENST00000217130.3_Missense_Mutation_p.R335C|ZNF512B_ENST00000369888.1_Missense_Mutation_p.R335C Q96KM6 Z512B_HUMAN zinc finger protein 512B 335 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(16)|ovary(1)|prostate(4)|skin(1) 33 all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08) CCTGTGGCACGAGGTGCTTTG 0.582000 9 62 0 0 0.006214 0 0 ZMAT1 84460 broad.mit.edu 37 X 101152892 101152892 + Missense_Mutation SNP A A T TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 125ccb76-bf8d-4ce7-a04c-4424d6da0322 8e550489-3da4-4a0f-8c20-b649aa5e7648 g.chrX:101152892A>T ENST00000372782.3 - 5 501 c.454T>A c.(454-456)Tta>Ata p.L152I ZMAT1_ENST00000540921.1_Missense_Mutation_p.L152I|ZMAT1_ENST00000458570.1_5'UTR NM_001011657.3 NP_001011657.2 A7MD47 A7MD47_HUMAN zinc finger, matrin-type 1 449 nucleus zinc ion binding endometrium(3)|kidney(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2) 22 TCCTCCATTAATTGCTTCAGT 0.403000 10 27 0 0 0.008291 0 0 MIR646HG 284757 broad.mit.edu 37 20 58883604 58883604 + RNA SNP C C T TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 125ccb76-bf8d-4ce7-a04c-4424d6da0322 8e550489-3da4-4a0f-8c20-b649aa5e7648 g.chr20:58883604C>T ENST00000432910.1 + 0 332 MIR646_ENST00000385067.1_RNA NR_046099.1 gcagctgcctctgaggcctca 0.582000 7 65 0 0 0.001984 0 0 NOTCH1 4851 broad.mit.edu 37 9 139412690 139412690 + Missense_Mutation SNP G G A TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 125ccb76-bf8d-4ce7-a04c-4424d6da0322 8e550489-3da4-4a0f-8c20-b649aa5e7648 g.chr9:139412690G>A ENST00000277541.6 - 7 1229 c.1154C>T c.(1153-1155)tCc>tTc p.S385F NM_017617.3 NP_060087.3 P46531 NOTC1_HUMAN notch 1 385 EGF-like 10. aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane calcium ion binding|protein binding|receptor activity breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3) 1359 all_cancers(76;0.223) Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06) GTCGCAGTTGGAGCCCTCGTT 0.672000 """T, Mis, O""" TRB@ T-ALL HNSCC(8;0.001) 7 9 0 0 0.003080 0 0 ZNF91 7644 broad.mit.edu 37 19 23544684 23544684 + Missense_Mutation SNP G G T TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 125ccb76-bf8d-4ce7-a04c-4424d6da0322 8e550489-3da4-4a0f-8c20-b649aa5e7648 g.chr19:23544684G>T ENST00000300619.7 - 4 1302 c.1097C>A c.(1096-1098)gCt>gAt p.A366D ZNF91_ENST00000397082.2_Missense_Mutation_p.A334D|ZNF91_ENST00000599743.1_Intron NM_003430.2 NP_003421.2 Q05481 ZNF91_HUMAN zinc finger protein 91 366 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611) CTTATGATTAGCAAGGGTTGA 0.348000 11 42 6.40141e-05 0.000116362 0.000978 1 0 ZIC5 85416 broad.mit.edu 37 13 100617654 100617654 + Missense_Mutation SNP C C T TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 125ccb76-bf8d-4ce7-a04c-4424d6da0322 8e550489-3da4-4a0f-8c20-b649aa5e7648 g.chr13:100617654C>T ENST00000267294.4 - 2 2202 c.1969G>A c.(1969-1971)Gaa>Aaa p.E657K NM_033132.3 NP_149123.2 Q96T25 ZIC5_HUMAN Zic family member 5 657 cell differentiation nucleus DNA binding|zinc ion binding endometrium(3)|kidney(1)|lung(2)|prostate(1)|skin(2) 9 all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184) CGCACAACTTCAGGGTTCCCG 0.478000 13 69 0 0 0.001368 0 0 FCRL4 83417 broad.mit.edu 37 1 157556033 157556033 + Missense_Mutation SNP C C A TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 125ccb76-bf8d-4ce7-a04c-4424d6da0322 8e550489-3da4-4a0f-8c20-b649aa5e7648 g.chr1:157556033C>A ENST00000271532.1 - 6 1195 c.1060G>T c.(1060-1062)Gca>Tca p.A354S FCRL4_ENST00000448509.2_5'UTR NM_031282.2 NP_112572.1 Q96PJ5 FCRL4_HUMAN Fc receptor-like 4 354 Ig-like C2-type 4. integral to membrane|plasma membrane receptor activity breast(2)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(5)|lung(20)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 40 all_hematologic(112;0.0378)|Hepatocellular(266;0.178) Prostate(1639;0.245) TATCCCCCTGCATGGCTCTGT 0.537000 5 106 3.59834e-05 6.60261e-05 0.001168 1 0 DLG5 9231 broad.mit.edu 37 10 79570931 79570931 + Missense_Mutation SNP C C G TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 125ccb76-bf8d-4ce7-a04c-4424d6da0322 8e550489-3da4-4a0f-8c20-b649aa5e7648 g.chr10:79570931C>G ENST00000372391.2 - 23 4389 c.4384G>C c.(4384-4386)Gag>Cag p.E1462Q DLG5_ENST00000372388.2_Missense_Mutation_p.E1122Q|DLG5_ENST00000459739.1_5'UTR NM_004747.3 NP_004738.3 Q8TDM6 DLG5_HUMAN discs, large homolog 5 (Drosophila) 1462 cell-cell adhesion|intracellular signal transduction|negative regulation of cell proliferation|regulation of apoptosis cell junction|cytoplasm beta-catenin binding|cytoskeletal protein binding|receptor signaling complex scaffold activity breast(9)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(17)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 60 all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146) Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446) GATGGATGCTCCGGGGTGGTG 0.637000 14 79 0 0 0.004007 0 0 PRICKLE2 166336 broad.mit.edu 37 3 64132920 64132920 + Missense_Mutation SNP G G C TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 125ccb76-bf8d-4ce7-a04c-4424d6da0322 8e550489-3da4-4a0f-8c20-b649aa5e7648 g.chr3:64132920G>C ENST00000295902.6 - 7 1831 c.1246C>G c.(1246-1248)Ctg>Gtg p.L416V PRICKLE2_ENST00000564377.1_Missense_Mutation_p.L472V NM_198859.3 NP_942559.1 Q7Z3G6 PRIC2_HUMAN prickle homolog 2 (Drosophila) 416 cytoplasm|nuclear membrane zinc ion binding breast(2)|endometrium(1)|large_intestine(9)|liver(1)|lung(10)|ovary(4)|prostate(2)|skin(2)|stomach(1) 32 Lung NSC(201;0.136) BRCA - Breast invasive adenocarcinoma(55;0.000971)|KIRC - Kidney renal clear cell carcinoma(15;0.00443)|Kidney(15;0.00497) AGGAGCTGCAGAGGGCTCTGG 0.612000 21 93 0 0 0.008871 0 0 PKDREJ 10343 broad.mit.edu 37 22 46653873 46653873 + Missense_Mutation SNP C C T TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 125ccb76-bf8d-4ce7-a04c-4424d6da0322 8e550489-3da4-4a0f-8c20-b649aa5e7648 g.chr22:46653873C>T ENST00000253255.5 - 1 5346 c.5347G>A c.(5347-5349)Gaa>Aaa p.E1783K NM_006071.1 NP_006062.1 Q9NTG1 PKDRE_HUMAN polycystin (PKD) family receptor for egg jelly 1783 acrosome reaction|neuropeptide signaling pathway integral to membrane calcium ion binding|ion channel activity NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2) 73 Ovarian(80;0.00965)|all_neural(38;0.0416) UCEC - Uterine corpus endometrioid carcinoma (28;0.00459) GACGAGCTTTCAGGAAGAAAT 0.423000 19 172 0 0 0.001523 0 0 BMPER 168667 broad.mit.edu 37 7 34125426 34125426 + Silent SNP C C G TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 125ccb76-bf8d-4ce7-a04c-4424d6da0322 8e550489-3da4-4a0f-8c20-b649aa5e7648 g.chr7:34125426C>G ENST00000297161.2 + 14 1841 c.1467C>G c.(1465-1467)ctC>ctG p.L489L BMPER_ENST00000426693.1_Silent_p.L489L NM_133468.4 NP_597725.1 Q8N8U9 BMPER_HUMAN BMP binding endothelial regulator 489 VWFD. blood vessel endothelial cell proliferation involved in sprouting angiogenesis|endothelial cell activation|negative regulation of BMP signaling pathway|positive regulation of ERK1 and ERK2 cascade|regulation of endothelial cell migration|regulation of pathway-restricted SMAD protein phosphorylation extracellular space breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(24)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 48 CGCCGCATCTCAAGGGCAAGC 0.433000 9 43 0 0 0.004482 0 0 ETS1 2113 broad.mit.edu 37 11 128359290 128359290 + Missense_Mutation SNP T T C TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 125ccb76-bf8d-4ce7-a04c-4424d6da0322 8e550489-3da4-4a0f-8c20-b649aa5e7648 g.chr11:128359290T>C ENST00000392668.3 - 5 498 c.430A>G c.(430-432)Atg>Gtg p.M144V ETS1_ENST00000531611.1_Missense_Mutation_p.M100V|ETS1_ENST00000345075.4_Missense_Mutation_p.M100V|ETS1_ENST00000526145.1_Missense_Mutation_p.M100V|ETS1_ENST00000535549.1_Intron|ETS1_ENST00000319397.5_Missense_Mutation_p.M100V NM_001143820.1 NP_001137292.1 P14921 ETS1_HUMAN v-ets avian erythroblastosis virus E26 oncogene homolog 1 100 cell motility|immune response|induction of apoptosis|negative regulation of cell cycle|negative regulation of cell proliferation|PML body organization|positive regulation of cellular component movement|positive regulation of erythrocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|response to antibiotic|transcription from RNA polymerase II promoter nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|pleura(1)|prostate(1)|upper_aerodigestive_tract(3) 35 all_hematologic(175;0.0537) Lung NSC(97;0.000542)|all_lung(97;0.000665)|Breast(109;0.00765)|all_neural(223;0.0351)|Medulloblastoma(222;0.0425) BRCA - Breast invasive adenocarcinoma(274;1.47e-05)|OV - Ovarian serous cystadenocarcinoma(99;0.0174)|LUSC - Lung squamous cell carcinoma(976;0.0815)|Lung(307;0.0833) GCTCCATTCATACAGAACTTC 0.532000 18 139 0 0 0.006122 0 0 POT1 25913 broad.mit.edu 37 7 124503479 124503479 + Missense_Mutation SNP C C A TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 125ccb76-bf8d-4ce7-a04c-4424d6da0322 8e550489-3da4-4a0f-8c20-b649aa5e7648 g.chr7:124503479C>A ENST00000357628.3 - 8 1069 c.471G>T c.(469-471)caG>caT p.Q157H POT1_ENST00000393329.1_Missense_Mutation_p.Q26H NM_015450.2 NP_056265.2 Q9NUX5 POTE1_HUMAN protection of telomeres 1 157 DNA duplex unwinding|negative regulation of telomere maintenance via telomerase|positive regulation of DNA strand elongation|positive regulation of helicase activity|positive regulation of telomerase activity|positive regulation of telomere maintenance via telomerase|telomere capping|telomere formation via telomerase|telomere maintenance via telomerase nuclear telomere cap complex|nucleoplasm DEAD/H-box RNA helicase binding|single-stranded telomeric DNA binding|telomerase inhibitor activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(4)|liver(1)|lung(23)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1) 47 ACTGCATTGGCTGAACATCAC 0.408000 12 77 0.00136819 0.00240827 0.001368 1 0 KRTAP1-5 83895 broad.mit.edu 37 17 39183145 39183145 + Missense_Mutation SNP A A G TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 125ccb76-bf8d-4ce7-a04c-4424d6da0322 8e550489-3da4-4a0f-8c20-b649aa5e7648 g.chr17:39183145A>G ENST00000361883.5 - 1 309 c.263T>C c.(262-264)aTc>aCc p.I88T NM_031957.1 NP_114163.1 Q9BYS1 KRA15_HUMAN keratin associated protein 1-5 88 15 X 5 AA repeats of C-C-[QEPVRC]- [TPIVLE]-[SRHVP]. keratin filament p.I88T(11) central_nervous_system(1)|endometrium(2)|kidney(1)|lung(9)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2) 17 Breast(137;0.00043) STAD - Stomach adenocarcinoma(17;0.000371) GCAGGAGCTGATCTGGCAGCA 0.632000 3 48 0 0 0.000248 0 0 UGT1A6 54578 broad.mit.edu 37 2 234602064 234602064 + Missense_Mutation SNP C C G TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 125ccb76-bf8d-4ce7-a04c-4424d6da0322 8e550489-3da4-4a0f-8c20-b649aa5e7648 g.chr2:234602064C>G ENST00000305139.6 + 1 553 c.414C>G c.(412-414)ttC>ttG p.F138L UGT1A6_ENST00000480628.1_Intron|UGT1A9_ENST00000354728.4_Intron|UGT1A7_ENST00000373426.3_Intron|UGT1A10_ENST00000373445.1_Intron|UGT1A6_ENST00000373424.1_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A8_ENST00000373450.4_Intron NM_001072.3 NP_001063.2 central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|skin(1)|upper_aerodigestive_tract(1) 22 Breast(86;0.000765)|all_lung(227;0.00267)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0457)|Lung SC(224;0.128) Epithelial(121;5.86e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000384)|Lung(119;0.00306)|LUSC - Lung squamous cell carcinoma(224;0.00702) CCCTGAACTTCTTTAAGGAGA 0.488000 10 73 0 0 0.008291 0 0 MOV10 4343 broad.mit.edu 37 1 113238852 113238852 + Missense_Mutation SNP C C T TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 125ccb76-bf8d-4ce7-a04c-4424d6da0322 8e550489-3da4-4a0f-8c20-b649aa5e7648 g.chr1:113238852C>T ENST00000369644.1 + 13 2723 c.1694C>T c.(1693-1695)aCc>aTc p.T565I MOV10_ENST00000369645.1_Missense_Mutation_p.T621I|MOV10_ENST00000468624.1_3'UTR|MOV10_ENST00000357443.2_Missense_Mutation_p.T621I|RP11-426L16.3_ENST00000421943.1_RNA|MOV10_ENST00000413052.2_Missense_Mutation_p.T621I Q9HCE1 MOV10_HUMAN Mov10, Moloney leukemia virus 10, homolog (mouse) 621 mRNA cleavage involved in gene silencing by miRNA|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasmic mRNA processing body ATP binding|helicase activity|protein binding|RNA binding breast(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(15)|ovary(5)|prostate(1)|skin(3)|urinary_tract(3) 38 Lung SC(450;0.246) all_cancers(81;3.31e-11)|all_epithelial(167;5.69e-10)|all_lung(203;3.73e-05)|Breast(1374;0.000525)|Lung NSC(69;0.000954)|Ovarian(761;0.0367)|Lung SC(238;0.114) OV - Ovarian serous cystadenocarcinoma(397;3.99e-67)|all cancers(265;1e-62)|Epithelial(280;4.78e-61)|Lung(183;0.0234)|Colorectal(144;0.0686)|READ - Rectum adenocarcinoma(129;0.0929)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|BRCA - Breast invasive adenocarcinoma(282;0.24) GTCTTAATTACCACCCTCATC 0.532000 5 52 0 0 0.001984 0 0 SLC25A25 114789 broad.mit.edu 37 9 130863479 130863479 + Missense_Mutation SNP G G C TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 125ccb76-bf8d-4ce7-a04c-4424d6da0322 8e550489-3da4-4a0f-8c20-b649aa5e7648 g.chr9:130863479G>C ENST00000373066.5 + 2 731 c.324G>C c.(322-324)aaG>aaC p.K108N SLC25A25_ENST00000373064.5_Missense_Mutation_p.K88N|SLC25A25_ENST00000432073.2_Missense_Mutation_p.K108N|SLC25A25_ENST00000373068.2_Missense_Mutation_p.K122N|SLC25A25_ENST00000433501.1_5'UTR|SLC25A25_ENST00000373069.5_Missense_Mutation_p.K122N NM_001265614.2 NP_001252543.1 Q6KCM7 SCMC2_HUMAN solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 25 88 EF-hand 2. transmembrane transport integral to membrane|mitochondrial inner membrane calcium ion binding breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(3) 10 TGGTGTTTAAGAGTTTGGACA 0.512000 13 130 0 0 0.003163 0 0 PKDREJ 10343 broad.mit.edu 37 22 46654124 46654124 + Missense_Mutation SNP C C T TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 125ccb76-bf8d-4ce7-a04c-4424d6da0322 8e550489-3da4-4a0f-8c20-b649aa5e7648 g.chr22:46654124C>T ENST00000253255.5 - 1 5095 c.5096G>A c.(5095-5097)aGa>aAa p.R1699K NM_006071.1 NP_006062.1 Q9NTG1 PKDRE_HUMAN polycystin (PKD) family receptor for egg jelly 1699 acrosome reaction|neuropeptide signaling pathway integral to membrane calcium ion binding|ion channel activity NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2) 73 Ovarian(80;0.00965)|all_neural(38;0.0416) UCEC - Uterine corpus endometrioid carcinoma (28;0.00459) CCTCTTCTTTCTTTTGAATAT 0.418000 7 87 0 0 0.003080 0 0 PIK3R4 30849 broad.mit.edu 37 3 130452968 130452968 + Missense_Mutation SNP G G C TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 125ccb76-bf8d-4ce7-a04c-4424d6da0322 8e550489-3da4-4a0f-8c20-b649aa5e7648 g.chr3:130452968G>C ENST00000356763.3 - 4 1431 c.874C>G c.(874-876)Cag>Gag p.Q292E NM_014602.2 NP_055417.1 Q99570 PI3R4_HUMAN phosphoinositide-3-kinase, regulatory subunit 4 292 Protein kinase. fibroblast growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway cytosol ATP binding|protein binding|protein serine/threonine kinase activity NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(6)|large_intestine(16)|lung(28)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1) 77 TGAATCATCTGAGTTACCTAT 0.348000 9 65 0 0 0.004482 0 0 SYNE2 23224 broad.mit.edu 37 14 64564717 64564717 + Silent SNP A A G TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 125ccb76-bf8d-4ce7-a04c-4424d6da0322 8e550489-3da4-4a0f-8c20-b649aa5e7648 g.chr14:64564717A>G ENST00000357395.3 + 63 12458 c.1314A>G c.(1312-1314)aaA>aaG p.K438K SYNE2_ENST00000394768.2_Silent_p.K438K|ESR2_ENST00000542956.1_Intron|SYNE2_ENST00000554584.1_Silent_p.K4086K|SYNE2_ENST00000358025.3_Silent_p.K4053K|SYNE2_ENST00000344113.4_Silent_p.K4053K|SYNE2_ENST00000555002.1_Silent_p.K687K Q8WXH0 SYNE2_HUMAN spectrin repeat containing, nuclear envelope 2 4053 centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc actin binding|protein binding NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4) 224 all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681) ACCAGAGAAAAGAAGACCTGT 0.448000 11 81 0 0 0.008291 0 0 SPINT2 10653 broad.mit.edu 37 19 38781203 38781203 + Missense_Mutation SNP C C G TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 125ccb76-bf8d-4ce7-a04c-4424d6da0322 8e550489-3da4-4a0f-8c20-b649aa5e7648 g.chr19:38781203C>G ENST00000301244.7 + 6 1015 c.580C>G c.(580-582)Ctt>Gtt p.L194V SPINT2_ENST00000587090.1_Missense_Mutation_p.L144V|SPINT2_ENST00000454580.3_Missense_Mutation_p.L137V|CTB-102L5.4_ENST00000591889.1_Silent_p.P71P NM_021102.3 NP_066925.1 O43291 SPIT2_HUMAN serine peptidase inhibitor, Kunitz type, 2 194 cellular component movement cytoplasm|extracellular region|integral to membrane|soluble fraction serine-type endopeptidase inhibitor activity large_intestine(2)|lung(1)|ovary(1) 4 all_cancers(60;6.83e-07) Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292) TCCCCTGCCCCTTGGCTCAAA 0.612000 4 25 0 0 0.000602 0 0 FCGBP 8857 broad.mit.edu 37 19 40364331 40364331 + Missense_Mutation SNP C C T TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 125ccb76-bf8d-4ce7-a04c-4424d6da0322 8e550489-3da4-4a0f-8c20-b649aa5e7648 g.chr19:40364331C>T ENST00000221347.6 - 31 14318 c.14311G>A c.(14311-14313)Gaa>Aaa p.E4771K NM_003890.2 NP_003881.2 Q9Y6R7 FCGBP_HUMAN Fc fragment of IgG binding protein 4771 TIL 11. extracellular region protein binding NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3) 165 all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06) Epithelial(26;6.25e-23)|all cancers(26;1.13e-20) ACACAGCCTTCACGGCAGGCC 0.652000 10 71 0 0 0.000978 0 0 GPR158 57512 broad.mit.edu 37 10 25701358 25701358 + Missense_Mutation SNP G G A TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 125ccb76-bf8d-4ce7-a04c-4424d6da0322 8e550489-3da4-4a0f-8c20-b649aa5e7648 g.chr10:25701358G>A ENST00000376351.3 + 4 1650 c.1291G>A c.(1291-1293)Gac>Aac p.D431N NM_020752.2 NP_065803.2 Q5T848 GP158_HUMAN G protein-coupled receptor 158 431 integral to membrane|plasma membrane G-protein coupled receptor activity breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 119 TATGCTGCTCGACTTCGTTAG 0.488000 8 175 0 0 0.006214 0 0 SEC31B 25956 broad.mit.edu 37 10 102249138 102249138 + Missense_Mutation SNP C C T TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 125ccb76-bf8d-4ce7-a04c-4424d6da0322 8e550489-3da4-4a0f-8c20-b649aa5e7648 g.chr10:102249138C>T ENST00000370345.3 - 23 3139 c.3042G>A c.(3040-3042)atG>atA p.M1014I NM_015490.3 NP_056305.1 Q9NQW1 SC31B_HUMAN SEC31 homolog B (S. cerevisiae) 1014 Pro-rich. protein transport|vesicle-mediated transport endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane NS(1)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(3)|lung(17)|ovary(1)|urinary_tract(1) 36 Colorectal(252;0.117) Epithelial(162;2.36e-10)|all cancers(201;2.09e-08) GTGCTGGGGGCATAAATGTCT 0.527000 9 43 0 0 0.000978 0 0 PDXDC1 23042 broad.mit.edu 37 16 15130131 15130131 + Silent SNP G G A TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 125ccb76-bf8d-4ce7-a04c-4424d6da0322 8e550489-3da4-4a0f-8c20-b649aa5e7648 g.chr16:15130131G>A ENST00000396410.4 + 23 2463 c.2366G>A c.(2365-2367)tGa>tAa p.*789* PDXDC1_ENST00000325823.7_Silent_p.*774*|PDXDC1_ENST00000450288.2_Silent_p.*761*|PDXDC1_ENST00000535621.2_Intron|PDXDC1_ENST00000447912.2_Silent_p.*698*|PDXDC1_ENST00000569715.1_Silent_p.*762*|PDXDC1_ENST00000563679.1_Silent_p.*807* NM_015027.2 NP_055842.2 Q6P996 PDXD1_HUMAN pyridoxal-dependent decarboxylase domain containing 1 0 carboxylic acid metabolic process carboxy-lyase activity|protein binding|pyridoxal phosphate binding central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(2)|liver(1)|lung(10)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 38 Pyridoxal Phosphate(DB00114) AGCTTAAGATGAGACTCATTG 0.478000 11 85 0 0 0.008291 0 0 ZNF610 162963 broad.mit.edu 37 19 52852486 52852486 + Missense_Mutation SNP C C G TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 125ccb76-bf8d-4ce7-a04c-4424d6da0322 8e550489-3da4-4a0f-8c20-b649aa5e7648 g.chr19:52852486C>G ENST00000601151.1 + 3 513 c.61C>G c.(61-63)Cag>Gag p.Q21E ZNF610_ENST00000321287.8_Missense_Mutation_p.Q21E|ZNF610_ENST00000403906.3_Missense_Mutation_p.Q21E|ZNF610_ENST00000327920.8_Missense_Mutation_p.Q21E NM_001161427.1 NP_001154899.1 Q8N9Z0 ZN610_HUMAN zinc finger protein 610 21 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(8)|liver(2)|lung(9)|ovary(2)|stomach(2)|upper_aerodigestive_tract(2) 34 OV - Ovarian serous cystadenocarcinoma(262;0.00396)|GBM - Glioblastoma multiforme(134;0.00434) GGCTCTTCCTCAGGTAAAGTG 0.448000 6 34 0 0 0.003080 0 0 ARHGAP31 57514 broad.mit.edu 37 3 119134182 119134182 + Missense_Mutation SNP G G A TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 125ccb76-bf8d-4ce7-a04c-4424d6da0322 8e550489-3da4-4a0f-8c20-b649aa5e7648 g.chr3:119134182G>A ENST00000264245.4 + 12 3938 c.3406G>A c.(3406-3408)Gag>Aag p.E1136K NM_020754.2 NP_065805.2 Q2M1Z3 RHG31_HUMAN Rho GTPase activating protein 31 1136 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|focal adhesion|lamellipodium GTPase activator activity breast(5)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(3)|large_intestine(11)|lung(29)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 67 GCAGGTCTCTGAGCCAGGAGA 0.532000 6 74 0 0 0.001168 0 0 HDAC7 51564 broad.mit.edu 37 12 48188581 48188581 + Missense_Mutation SNP C C T TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 125ccb76-bf8d-4ce7-a04c-4424d6da0322 8e550489-3da4-4a0f-8c20-b649aa5e7648 g.chr12:48188581C>T ENST00000080059.7 - 12 1419 c.1420G>A c.(1420-1422)Gag>Aag p.E474K HDAC7_ENST00000427332.2_Missense_Mutation_p.E435K|HDAC7_ENST00000380610.4_Missense_Mutation_p.E491K|HDAC7_ENST00000552960.1_Missense_Mutation_p.E457K|HDAC7_ENST00000354334.3_Missense_Mutation_p.E437K NM_015401.3 NP_056216.2 Q8WUI4 HDAC7_HUMAN histone deacetylase 7 435 Transcription repression 2 (By similarity). negative regulation of interleukin-2 production|negative regulation of osteoblast differentiation|positive regulation of cell migration involved in sprouting angiogenesis|transcription, DNA-dependent cytoplasm|histone deacetylase complex activating transcription factor binding|histone deacetylase activity (H3-K16 specific)|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein kinase C binding|repressing transcription factor binding breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 25 GBM - Glioblastoma multiforme(48;0.137) CCTCTGGCCTCAGGCTGCCCA 0.657000 11 68 0 0 0.000978 0 0 ZC3H3 23144 broad.mit.edu 37 8 144620188 144620188 + Missense_Mutation SNP C C T TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 125ccb76-bf8d-4ce7-a04c-4424d6da0322 8e550489-3da4-4a0f-8c20-b649aa5e7648 g.chr8:144620188C>T ENST00000262577.5 - 2 1380 c.1349G>A c.(1348-1350)aGa>aAa p.R450K NM_015117.2 NP_055932.2 Q8IXZ2 ZC3H3_HUMAN zinc finger CCCH-type containing 3 450 mRNA polyadenylation|poly(A)+ mRNA export from nucleus|regulation of mRNA export from nucleus nucleus nucleic acid binding|zinc ion binding breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 23 all_cancers(97;8.64e-11)|all_epithelial(106;6.43e-09)|Lung NSC(106;0.000202)|all_lung(105;0.000548)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155) Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.107) GCTGCTGCGTCTCCGGATGAT 0.617000 9 85 0 0 0.006214 0 0 GRID1 2894 broad.mit.edu 37 10 87966143 87966143 + Silent SNP G G T rs61744114 TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 125ccb76-bf8d-4ce7-a04c-4424d6da0322 8e550489-3da4-4a0f-8c20-b649aa5e7648 g.chr10:87966143G>T ENST00000327946.7 - 3 583 c.498C>A c.(496-498)gtC>gtA p.V166V NM_017551.2 NP_060021.1 Q9ULK0 GRID1_HUMAN glutamate receptor, ionotropic, delta 1 166 cell junction|integral to membrane|outer membrane-bounded periplasmic space|postsynaptic membrane extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(46)|ovary(5)|prostate(4)|skin(5)|stomach(4)|upper_aerodigestive_tract(5) 106 L-Glutamic Acid(DB00142) CGTAGAACATGACGAACTTCT 0.622000 Multiple Myeloma(13;0.14) 11 39 3.03607e-14 5.87578e-14 0.001368 1 0 KRT39 390792 broad.mit.edu 37 17 39122956 39122956 + Silent SNP G G A TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 125ccb76-bf8d-4ce7-a04c-4424d6da0322 8e550489-3da4-4a0f-8c20-b649aa5e7648 g.chr17:39122956G>A ENST00000355612.2 - 1 188 c.153C>T c.(151-153)ctC>ctT p.L51L AC004231.2_ENST00000418393.1_RNA NM_213656.3 NP_998821.3 Q6A163 K1C39_HUMAN keratin 39 51 Head. intermediate filament structural molecule activity NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1) 17 Breast(137;0.00043)|Ovarian(249;0.15) AGGGAATTCTGAGAACGTGGC 0.498000 41 243 0 0 0.006999 0 0 AKAP10 11216 broad.mit.edu 37 17 19850729 19850729 + Missense_Mutation SNP C C T TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 125ccb76-bf8d-4ce7-a04c-4424d6da0322 8e550489-3da4-4a0f-8c20-b649aa5e7648 g.chr17:19850729C>T ENST00000225737.6 - 5 1124 c.967G>A c.(967-969)Gac>Aac p.D323N AKAP10_ENST00000395536.3_Missense_Mutation_p.D323N NM_007202.3 NP_009133.2 O43572 AKA10_HUMAN A kinase (PRKA) anchor protein 10 323 RGS 1. blood coagulation|protein localization cytosol|mitochondrion|plasma membrane signal transducer activity NS(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(3)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(2) 21 all_cancers(12;2.08e-05)|all_epithelial(12;0.00158)|Breast(13;0.165) CCTATGATGTCATTTCTCATT 0.323000 12 98 0 0 0.000978 0 0 POT1 25913 broad.mit.edu 37 7 124503478 124503478 + Missense_Mutation SNP G G A TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 125ccb76-bf8d-4ce7-a04c-4424d6da0322 8e550489-3da4-4a0f-8c20-b649aa5e7648 g.chr7:124503478G>A ENST00000357628.3 - 8 1070 c.472C>T c.(472-474)Cca>Tca p.P158S POT1_ENST00000393329.1_Missense_Mutation_p.P27S NM_015450.2 NP_056265.2 Q9NUX5 POTE1_HUMAN protection of telomeres 1 158 DNA duplex unwinding|negative regulation of telomere maintenance via telomerase|positive regulation of DNA strand elongation|positive regulation of helicase activity|positive regulation of telomerase activity|positive regulation of telomere maintenance via telomerase|telomere capping|telomere formation via telomerase|telomere maintenance via telomerase nuclear telomere cap complex|nucleoplasm DEAD/H-box RNA helicase binding|single-stranded telomeric DNA binding|telomerase inhibitor activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(4)|liver(1)|lung(23)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1) 47 TACTGCATTGGCTGAACATCA 0.408000 11 79 0 0 0.000978 0 0 ZNF804B 219578 broad.mit.edu 37 7 88964913 88964913 + Missense_Mutation SNP G G A TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 125ccb76-bf8d-4ce7-a04c-4424d6da0322 8e550489-3da4-4a0f-8c20-b649aa5e7648 g.chr7:88964913G>A ENST00000333190.4 + 4 3226 c.2617G>A c.(2617-2619)Gag>Aag p.E873K NM_181646.2 NP_857597.1 A4D1E1 Z804B_HUMAN zinc finger protein 804B 873 intracellular zinc ion binding p.E873*(1) NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9) 144 all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151) STAD - Stomach adenocarcinoma(171;0.0513) GAGAAATCAAGAGTCTTTGGG 0.428000 HNSCC(36;0.09) 8 60 0 0 0.003080 0 0 PIP4K2B 8396 broad.mit.edu 37 17 36927505 36927505 + Missense_Mutation SNP G G C TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 125ccb76-bf8d-4ce7-a04c-4424d6da0322 8e550489-3da4-4a0f-8c20-b649aa5e7648 g.chr17:36927505G>C ENST00000269554.3 - 8 1308 c.828C>G c.(826-828)atC>atG p.I276M NM_003559.4 NP_003550.1 P78356 PI42B_HUMAN phosphatidylinositol-5-phosphate 4-kinase, type II, beta 276 PIPK. cell surface receptor linked signaling pathway endoplasmic reticulum membrane|plasma membrane 1-phosphatidylinositol-4-phosphate 5-kinase activity|1-phosphatidylinositol-5-phosphate 4-kinase activity|ATP binding|receptor signaling protein activity endometrium(3)|kidney(2)|large_intestine(4)|liver(1)|lung(8)|ovary(1) 19 TGTAGTCCATGATCTTCAGCT 0.562000 8 39 0 0 0.003080 0 0 ZSCAN32 54925 broad.mit.edu 37 16 3434561 3434561 + Missense_Mutation SNP C C T TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 125ccb76-bf8d-4ce7-a04c-4424d6da0322 8e550489-3da4-4a0f-8c20-b649aa5e7648 g.chr16:3434561C>T ENST00000396852.4 - 6 1439 c.1132G>A c.(1132-1134)Gat>Aat p.D378N LA16c-306E5.2_ENST00000575785.1_RNA|ZSCAN32_ENST00000304926.3_Missense_Mutation_p.D166N|ZSCAN32_ENST00000574940.1_Missense_Mutation_p.D378N|ZSCAN32_ENST00000396846.3_Missense_Mutation_p.D378N|ZSCAN32_ENST00000439568.2_Missense_Mutation_p.D89N|ZSCAN32_ENST00000573830.1_Missense_Mutation_p.D89N|ZSCAN32_ENST00000422427.2_Missense_Mutation_p.D166N zinc finger and SCAN domain containing 32 ACAGTGCCATCTTCTACCTCC 0.527000 18 129 0 0 0.006122 0 0 ALDH3B2 222 broad.mit.edu 37 11 67431887 67431887 + Missense_Mutation SNP C C T rs147016371 byFrequency TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 125ccb76-bf8d-4ce7-a04c-4424d6da0322 8e550489-3da4-4a0f-8c20-b649aa5e7648 g.chr11:67431887C>T ENST00000349015.3 - 8 1291 c.853G>A c.(853-855)Gcc>Acc p.A285T ALDH3B2_ENST00000530069.1_Missense_Mutation_p.A285T NM_000695.3 NP_000686.2 P48448 AL3B2_HUMAN aldehyde dehydrogenase 3 family, member B2 285 alcohol metabolic process|cellular aldehyde metabolic process|lipid metabolic process 3-chloroallyl aldehyde dehydrogenase activity|aldehyde dehydrogenase central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|prostate(2)|stomach(1)|urinary_tract(1) 18 NADH(DB00157) TTGGAGAAGGCGTACAGGGCC 0.637000 15 124 0 0 0.004007 0 0 GPR37 2861 broad.mit.edu 37 7 124404013 124404013 + Missense_Mutation SNP T T C TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 125ccb76-bf8d-4ce7-a04c-4424d6da0322 8e550489-3da4-4a0f-8c20-b649aa5e7648 g.chr7:124404013T>C ENST00000303921.2 - 1 1668 c.1018A>G c.(1018-1020)Ata>Gta p.I340V NM_005302.2 NP_005293.1 O15354 GPR37_HUMAN G protein-coupled receptor 37 (endothelin receptor type B-like) 340 endoplasmic reticulum membrane|integral to plasma membrane G-protein coupled receptor activity breast(2)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(11)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 ATTACCTCTATATAGGGCACG 0.498000 34 211 0 0 0.004878 0 0 ARSD 414 broad.mit.edu 37 X 2825395 2825395 + Missense_Mutation SNP T T C TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 125ccb76-bf8d-4ce7-a04c-4424d6da0322 8e550489-3da4-4a0f-8c20-b649aa5e7648 g.chrX:2825395T>C ENST00000381154.1 - 10 1774 c.1699A>G c.(1699-1701)Atc>Gtc p.I567V NM_001669.3 NP_001660.2 P51689 ARSD_HUMAN arylsulfatase D 567 lysosome arylsulfatase activity|metal ion binding large_intestine(3)|lung(3) 6 all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122) TTCCACAGGATGTTGCTCATG 0.617000 6 27 0 0 0.001168 0 0 PSD4 23550 broad.mit.edu 37 2 113943603 113943603 + Missense_Mutation SNP G G C TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 125ccb76-bf8d-4ce7-a04c-4424d6da0322 8e550489-3da4-4a0f-8c20-b649aa5e7648 g.chr2:113943603G>C ENST00000245796.6 + 5 1594 c.1399G>C c.(1399-1401)Gag>Cag p.E467Q PSD4_ENST00000441564.2_Missense_Mutation_p.E439Q NM_012455.2 NP_036587.2 Q8NDX1 PSD4_HUMAN pleckstrin and Sec7 domain containing 4 467 regulation of ARF protein signal transduction cytoplasm|plasma membrane ARF guanyl-nucleotide exchange factor activity cervix(1)|endometrium(2)|large_intestine(4)|lung(13)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 ATCGTCCCAGGAGGGCAGCCC 0.617000 8 59 0 0 0.003080 0 0 BZRAP1 9256 broad.mit.edu 37 17 56397485 56397485 + Silent SNP G G T TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 125ccb76-bf8d-4ce7-a04c-4424d6da0322 8e550489-3da4-4a0f-8c20-b649aa5e7648 g.chr17:56397485G>T ENST00000355701.3 - 12 2349 c.1479C>A c.(1477-1479)acC>acA p.T493T BZRAP1_ENST00000343736.4_Silent_p.T493T|BZRAP1_ENST00000268893.6_Silent_p.T433T NM_001261835.1|NM_004758.3 NP_001248764.1|NP_004749.2 O95153 RIMB1_HUMAN benzodiazapine receptor (peripheral) associated protein 1 493 mitochondrion benzodiazepine receptor binding cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 54 Medulloblastoma(34;0.127)|all_neural(34;0.237) TGGAATCCAAGGTAGACTGTT 0.592000 9 47 3.09899e-07 5.7957e-07 0.004482 1 0 AP3D1 8943 broad.mit.edu 37 19 2110168 2110168 + Silent SNP C C T TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 125ccb76-bf8d-4ce7-a04c-4424d6da0322 8e550489-3da4-4a0f-8c20-b649aa5e7648 g.chr19:2110168C>T ENST00000355272.6 - 28 3437 c.3231G>A c.(3229-3231)caG>caA p.Q1077Q AP3D1_ENST00000345016.5_Silent_p.Q1015Q|AP3D1_ENST00000356926.4_Silent_p.Q974Q|AP3D1_ENST00000350812.6_Silent_p.Q846Q NM_001261826.1 NP_001248755.1 O14617 AP3D1_HUMAN adaptor-related protein complex 3, delta 1 subunit 1015 eye pigment biosynthetic process|intracellular protein transport|regulation of sequestering of zinc ion|vesicle-mediated transport endosome membrane|Golgi membrane|membrane coat binding|protein transporter activity breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(23)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 37 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) CCTTGAGCTTCTGCGCCATGA 0.642000 9 39 0 0 0.006214 0 0 FLAD1 80308 broad.mit.edu 37 1 154956218 154956218 + Missense_Mutation SNP G G C TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 125ccb76-bf8d-4ce7-a04c-4424d6da0322 8e550489-3da4-4a0f-8c20-b649aa5e7648 g.chr1:154956218G>C ENST00000368433.1 + 1 391 c.48G>C c.(46-48)agG>agC p.R16S FLAD1_ENST00000487371.1_Intron|FLAD1_ENST00000315144.10_Intron|FLAD1_ENST00000292180.3_Missense_Mutation_p.R16S|FLAD1_ENST00000368431.3_Intron|FLAD1_ENST00000368432.1_Intron Q8NFF5 FAD1_HUMAN flavin adenine dinucleotide synthetase 1 16 FAD biosynthetic process|Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process cytosol ATP binding|FMN adenylyltransferase activity endometrium(3)|kidney(4)|large_intestine(2)|lung(7)|ovary(3)|skin(3) 22 all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877) BRCA - Breast invasive adenocarcinoma(34;0.00034) AGGAACAAAGGAGTCGCTTGT 0.478000 4 75 0 0 0.000248 0 0 GFI1B 8328 broad.mit.edu 37 9 135862790 135862790 + Missense_Mutation SNP G G C TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 125ccb76-bf8d-4ce7-a04c-4424d6da0322 8e550489-3da4-4a0f-8c20-b649aa5e7648 g.chr9:135862790G>C ENST00000339463.3 + 7 1041 c.222G>C c.(220-222)agG>agC p.R74S GFI1B_ENST00000372124.1_Missense_Mutation_p.R74S|GFI1B_ENST00000372122.1_Missense_Mutation_p.R74S|GFI1B_ENST00000372123.1_Missense_Mutation_p.R74S|GFI1B_ENST00000450530.1_Missense_Mutation_p.R74S|GFI1B_ENST00000534944.1_Missense_Mutation_p.R74S Q5VTD9 GFI1B_HUMAN growth factor independent 1B transcription repressor 74 cell proliferation|chromatin modification|multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription involved in G1 phase of mitotic cell cycle|transcription from RNA polymerase II promoter nucleus DNA binding|protein binding|zinc ion binding central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(1) 21 OV - Ovarian serous cystadenocarcinoma(145;9.04e-07)|Epithelial(140;1.17e-05) ACTTGGCCAGGATGGCCCCGG 0.617000 10 35 0 0 0.001368 0 0 CWC22 57703 broad.mit.edu 37 2 180838488 180838488 + Missense_Mutation SNP G G A TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 125ccb76-bf8d-4ce7-a04c-4424d6da0322 8e550489-3da4-4a0f-8c20-b649aa5e7648 g.chr2:180838488G>A ENST00000410053.3 - 7 922 c.623C>T c.(622-624)tCt>tTt p.S208F CWC22_ENST00000295749.6_Missense_Mutation_p.S208F NM_020943.2 NP_065994.1 Q9HCG8 CWC22_HUMAN CWC22 spliceosome-associated protein homolog (S. cerevisiae) 208 MIF4G. catalytic step 2 spliceosome protein binding|RNA binding NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(8)|liver(1)|lung(8)|stomach(1) 30 GAAGATTGGAGAAGCACTCTG 0.328000 7 50 0 0 0.004482 0 0 OR5F1 338674 broad.mit.edu 37 11 55761664 55761664 + Silent SNP G G A TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 125ccb76-bf8d-4ce7-a04c-4424d6da0322 8e550489-3da4-4a0f-8c20-b649aa5e7648 g.chr11:55761664G>A ENST00000278409.1 - 1 437 c.438C>T c.(436-438)gcC>gcT p.A146A NM_003697.1 NP_003688.1 O95221 OR5F1_HUMAN olfactory receptor, family 5, subfamily F, member 1 146 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(6)|kidney(1)|large_intestine(11)|liver(1)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 58 Esophageal squamous(21;0.00448) CAAAAGCCCCGGCTGCCATTT 0.502000 7 53 0 0 0.001984 0 0 RAC3 5881 broad.mit.edu 37 17 79991599 79991599 + Nonsense_Mutation SNP C C G TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 125ccb76-bf8d-4ce7-a04c-4424d6da0322 8e550489-3da4-4a0f-8c20-b649aa5e7648 g.chr17:79991599C>G ENST00000306897.4 + 6 611 c.473C>G c.(472-474)tCa>tGa p.S158* NM_005052.2 NP_005043.1 P60763 RAC3_HUMAN ras-related C3 botulinum toxin substrate 3 (rho family, small GTP binding protein Rac3) 158 actin cytoskeleton organization|cell projection assembly|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|endomembrane system|filamentous actin|growth cone|lamellipodium|neuronal cell body|plasma membrane GTP binding|GTPase activity|protein binding NS(1)|kidney(1)|skin(1) 3 all_neural(118;0.0878)|Ovarian(332;0.12)|all_lung(278;0.246) BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0191) CTGGAGTGCTCAGCCCTGACC 0.657000 9 43 0 0 0.004482 0 0 IGHA1 3493 broad.mit.edu 37 14 106174257 106174257 + RNA SNP C C G TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 125ccb76-bf8d-4ce7-a04c-4424d6da0322 8e550489-3da4-4a0f-8c20-b649aa5e7648 g.chr14:106174257C>G ENST00000390547.2 - 0 531 CCACAGAGGTCACGCTCAGGT 0.617000 4 24 0 0 0.000248 0 0 ADCY6 112 broad.mit.edu 37 12 49165584 49165584 + Missense_Mutation SNP T T C TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 125ccb76-bf8d-4ce7-a04c-4424d6da0322 8e550489-3da4-4a0f-8c20-b649aa5e7648 g.chr12:49165584T>C ENST00000307885.4 - 18 3654 c.2960A>G c.(2959-2961)aAc>aGc p.N987S ADCY6_ENST00000550422.1_Missense_Mutation_p.N934S|ADCY6_ENST00000357869.3_Missense_Mutation_p.N934S NM_015270.3 NP_056085.1 O43306 ADCY6_HUMAN adenylate cyclase 6 987 activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport integral to membrane ATP binding|metal ion binding breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(16)|prostate(1)|skin(1)|urinary_tract(1) 29 CTCAGAGAAGTTGGCAATGGA 0.537000 9 56 0 0 0.004482 0 0 PKDREJ 10343 broad.mit.edu 37 22 46654045 46654045 + Silent SNP C C T TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 125ccb76-bf8d-4ce7-a04c-4424d6da0322 8e550489-3da4-4a0f-8c20-b649aa5e7648 g.chr22:46654045C>T ENST00000253255.5 - 1 5174 c.5175G>A c.(5173-5175)ttG>ttA p.L1725L NM_006071.1 NP_006062.1 Q9NTG1 PKDRE_HUMAN polycystin (PKD) family receptor for egg jelly 1725 acrosome reaction|neuropeptide signaling pathway integral to membrane calcium ion binding|ion channel activity NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2) 73 Ovarian(80;0.00965)|all_neural(38;0.0416) UCEC - Uterine corpus endometrioid carcinoma (28;0.00459) CGATAAGGATCAACAGAAGGG 0.383000 8 52 0 0 0.003080 0 0 COL11A1 1301 broad.mit.edu 37 1 103455092 103455092 + Missense_Mutation SNP C C G TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 125ccb76-bf8d-4ce7-a04c-4424d6da0322 8e550489-3da4-4a0f-8c20-b649aa5e7648 g.chr1:103455092C>G ENST00000358392.2 - 29 2729 c.2412G>C c.(2410-2412)atG>atC p.M804I COL11A1_ENST00000353414.4_Missense_Mutation_p.M753I|COL11A1_ENST00000512756.1_Missense_Mutation_p.M676I|COL11A1_ENST00000370096.3_Missense_Mutation_p.M792I NM_080629.2 NP_542196.2 P12107 COBA1_HUMAN collagen, type XI, alpha 1 792 Triple-helical region. collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception collagen type XI extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1) 258 all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181) Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248) CTTTTAGACCCATGTCACCTT 0.289000 4 55 0 0 0.000602 0 0 KANK1 23189 broad.mit.edu 37 9 711776 711776 + Missense_Mutation SNP G G A TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 125ccb76-bf8d-4ce7-a04c-4424d6da0322 8e550489-3da4-4a0f-8c20-b649aa5e7648 g.chr9:711776G>A ENST00000382303.1 + 7 1662 c.1010G>A c.(1009-1011)cGg>cAg p.R337Q KANK1_ENST00000382297.2_Missense_Mutation_p.R337Q|KANK1_ENST00000382293.3_Missense_Mutation_p.R179Q|KANK1_ENST00000489369.1_3'UTR NM_001256876.1 NP_001243805.1 Q14678 KANK1_HUMAN KN motif and ankyrin repeat domains 1 337 negative regulation of actin filament polymerization cytoplasm autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|stomach(4)|upper_aerodigestive_tract(1) 43 Lung NSC(10;9.84e-12)|all_lung(10;1.02e-11)|Breast(48;0.128) Epithelial(6;0.000153)|OV - Ovarian serous cystadenocarcinoma(1;0.000358)|Lung(218;0.0222) CAGCTCTCCCGGGCCCGAAGA 0.537000 8 91 0 0 0.006214 0 0 FCGBP 8857 broad.mit.edu 37 19 40366539 40366539 + Silent SNP C C T TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 125ccb76-bf8d-4ce7-a04c-4424d6da0322 8e550489-3da4-4a0f-8c20-b649aa5e7648 g.chr19:40366539C>T ENST00000221347.6 - 30 13702 c.13695G>A c.(13693-13695)caG>caA p.Q4565Q NM_003890.2 NP_003881.2 Q9Y6R7 FCGBP_HUMAN Fc fragment of IgG binding protein 4565 VWFD 11. extracellular region protein binding NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3) 165 all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06) Epithelial(26;6.25e-23)|all cancers(26;1.13e-20) GCGAGTCCAGCTGGAAAGGCA 0.677000 10 60 0 0 0.008291 0 0 BCL6B 255877 broad.mit.edu 37 17 6930392 6930392 + Missense_Mutation SNP G G C TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 125ccb76-bf8d-4ce7-a04c-4424d6da0322 8e550489-3da4-4a0f-8c20-b649aa5e7648 g.chr17:6930392G>C ENST00000293805.5 + 8 1401 c.1309G>C c.(1309-1311)Gag>Cag p.E437Q NM_181844.3 NP_862827.1 Q8N143 BCL6B_HUMAN B-cell CLL/lymphoma 6, member B 437 nucleus zinc ion binding skin(1) 1 CCACACCGGAGAGAAGCCTTA 0.632000 4 61 0 0 0.000248 0 0 PLAUR 5329 broad.mit.edu 37 19 44160641 44160641 + Silent SNP T T C TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 125ccb76-bf8d-4ce7-a04c-4424d6da0322 8e550489-3da4-4a0f-8c20-b649aa5e7648 g.chr19:44160641T>C ENST00000221264.4 - 4 888 c.462A>G c.(460-462)gaA>gaG p.E154E PLAUR_ENST00000340093.3_Silent_p.E154E|PLAUR_ENST00000339082.3_Silent_p.E154E|PLAUR_ENST00000601723.1_Silent_p.E154E NM_001005377.2 NP_001005377.1 Q03405 UPAR_HUMAN plasminogen activator, urokinase receptor 154 UPAR/Ly6 2. attachment of GPI anchor to protein|blood coagulation|C-terminal protein lipidation|cellular component movement|chemotaxis|fibrinolysis|regulation of proteolysis anchored to membrane|cell surface|endoplasmic reticulum lumen|endoplasmic reticulum membrane|extracellular region|extrinsic to membrane|integral to membrane|plasma membrane enzyme binding|U-plasminogen activator receptor activity endometrium(1)|kidney(4)|large_intestine(5)|lung(5)|ovary(1)|stomach(1)|urinary_tract(3) 20 Prostate(69;0.0153) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Streptokinase(DB00086)|Tenecteplase(DB00031)|Urokinase(DB00013) CTTCTTCACCTTCCTGGATCC 0.577000 23 119 0 0 0.003954 0 0 KIAA0753 9851 broad.mit.edu 37 17 6510503 6510503 + Missense_Mutation SNP C C G TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 125ccb76-bf8d-4ce7-a04c-4424d6da0322 8e550489-3da4-4a0f-8c20-b649aa5e7648 g.chr17:6510503C>G ENST00000361413.3 - 11 2275 c.1917G>C c.(1915-1917)caG>caC p.Q639H KIAA0753_ENST00000542606.1_Missense_Mutation_p.Q340H|KIAA0753_ENST00000589033.1_Missense_Mutation_p.Q95H|KIAA0753_ENST00000572370.1_Missense_Mutation_p.Q340H NM_014804.2 NP_055619.2 Q2KHM9 K0753_HUMAN KIAA0753 639 centrosome endometrium(4)|large_intestine(11)|lung(5)|prostate(4) 24 COAD - Colon adenocarcinoma(228;0.157) ATATTTACCTCTGTTTTTGCA 0.373000 20 167 0 0 0.001882 0 0 PROM2 150696 broad.mit.edu 37 2 95941259 95941259 + Splice_Site SNP G G T TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 125ccb76-bf8d-4ce7-a04c-4424d6da0322 8e550489-3da4-4a0f-8c20-b649aa5e7648 g.chr2:95941259G>T ENST00000317620.9 + 2 427 c.e2+1 PROM2_ENST00000317668.4_Splice_Site|PROM2_ENST00000403131.2_Splice_Site|PROM2_ENST00000542147.1_Splice_Site|PROM2_ENST00000463580.1_Intron NM_001165978.1 NP_001159450.1 Q8N271 PROM2_HUMAN prominin 2 apical plasma membrane|basolateral plasma membrane|cilium membrane|integral to membrane|microvillus membrane breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(12)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1) 32 GGTGAATGAGGTGAGCAAGCT 0.602000 5 45 0.00116845 0.00206602 0.001168 1 0 DCDC2 51473 broad.mit.edu 37 6 24205370 24205370 + Missense_Mutation SNP G G T TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 125ccb76-bf8d-4ce7-a04c-4424d6da0322 8e550489-3da4-4a0f-8c20-b649aa5e7648 g.chr6:24205370G>T ENST00000378450.3 - 1 161 c.142C>A c.(142-144)Caa>Aaa p.Q48K DCDC2_ENST00000378454.3_Intron Q9UHG0 DCDC2_HUMAN doublecortin domain containing 2 76 Doublecortin 1. cellular defense response|intracellular signal transduction|neuron migration breast(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 32 Ovarian(999;0.101) AAATCCAATTGTGACATCGTG 0.403000 8 143 1.06961e-07 2.01005e-07 0.003080 1 0 USH2A 7399 broad.mit.edu 37 1 215823958 215823958 + Silent SNP G G A TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 125ccb76-bf8d-4ce7-a04c-4424d6da0322 8e550489-3da4-4a0f-8c20-b649aa5e7648 g.chr1:215823958G>A ENST00000366943.2 - 65 14705 c.14319C>T c.(14317-14319)agC>agT p.S4773S USH2A_ENST00000307340.3_Silent_p.S4773S O75445 USH2A_HUMAN Usher syndrome 2A (autosomal recessive, mild) 4773 Fibronectin type-III 33. maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound basement membrane|cytoplasm|integral to membrane|stereocilium membrane collagen binding NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3) 527 OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875) CATGGGCGCTGCTGGAGAACA 0.493000 HNSCC(13;0.011) 15 88 0 0 0.003163 0 0 PKDREJ 10343 broad.mit.edu 37 22 46654407 46654407 + Missense_Mutation SNP C C G TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 125ccb76-bf8d-4ce7-a04c-4424d6da0322 8e550489-3da4-4a0f-8c20-b649aa5e7648 g.chr22:46654407C>G ENST00000253255.5 - 1 4812 c.4813G>C c.(4813-4815)Gac>Cac p.D1605H NM_006071.1 NP_006062.1 Q9NTG1 PKDRE_HUMAN polycystin (PKD) family receptor for egg jelly 1605 acrosome reaction|neuropeptide signaling pathway integral to membrane calcium ion binding|ion channel activity NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2) 73 Ovarian(80;0.00965)|all_neural(38;0.0416) UCEC - Uterine corpus endometrioid carcinoma (28;0.00459) ATTGACTTGTCATAGCCGTAA 0.393000 6 53 0 0 0.001168 0 0 BRCA2 675 broad.mit.edu 37 13 32972546 32972546 + Missense_Mutation SNP A A G TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 125ccb76-bf8d-4ce7-a04c-4424d6da0322 8e550489-3da4-4a0f-8c20-b649aa5e7648 g.chr13:32972546A>G ENST00000544455.1 + 27 10123 c.9896A>G c.(9895-9897)cAg>cGg p.Q3299R BRCA2_ENST00000380152.3_Missense_Mutation_p.Q3299R NM_000059.3 NP_000050.2 P51587 BRCA2_HUMAN breast cancer 2, early onset 3299 cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3) 183 Lung SC(185;0.0262) all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704) AAGGCATTTCAGCCACCAAGG 0.398000 """D, Mis, N, F, S""" """breast, ovarian, pancreatic""" """breast, ovarian, pancreatic, leukemia (FANCB, FANCD1)""" Homologous recombination Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia TCGA Ovarian(8;0.087) 3 93 0 0 0.004672 0 0 C12orf54 121273 broad.mit.edu 37 12 48888620 48888620 + Silent SNP G G A TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 125ccb76-bf8d-4ce7-a04c-4424d6da0322 8e550489-3da4-4a0f-8c20-b649aa5e7648 g.chr12:48888620G>A ENST00000314014.2 + 8 413 c.282G>A c.(280-282)ttG>ttA p.L94L C12orf54_ENST00000548364.1_Silent_p.L94L|RP11-722P11.4_ENST00000551847.1_RNA NM_152319.3 NP_689532.1 Q6X4T0 CL054_HUMAN chromosome 12 open reading frame 54 94 endometrium(1)|large_intestine(4) 5 CCCCAAAGTTGAGAAGATTGC 0.483000 11 120 0 0 0.000978 0 0 NCOR2 9612 broad.mit.edu 37 12 124832798 124832798 + Missense_Mutation SNP C C T TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 125ccb76-bf8d-4ce7-a04c-4424d6da0322 8e550489-3da4-4a0f-8c20-b649aa5e7648 g.chr12:124832798C>T ENST00000356219.3 - 30 4083 c.3928G>A c.(3928-3930)Gag>Aag p.E1310K NCOR2_ENST00000429285.2_Missense_Mutation_p.E1293K|NCOR2_ENST00000405201.1_Missense_Mutation_p.E1303K|NCOR2_ENST00000404621.1_Missense_Mutation_p.E1293K|NCOR2_ENST00000404121.2_Missense_Mutation_p.E864K|NCOR2_ENST00000397355.1_Missense_Mutation_p.E1294K NM_006312.5 NP_006303.4 Q9Y618 NCOR2_HUMAN nuclear receptor corepressor 2 1311 cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent nuclear body|nucleus|transcriptional repressor complex DNA binding|histone deacetylase binding|Notch binding|protein N-terminus binding|transcription corepressor activity breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 69 all_neural(191;0.0804)|Medulloblastoma(191;0.163) Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764) GCGGCCGTCTCATGGGGGGGT 0.622000 OREG0022238 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 10 61 0 0 0.000978 0 0 VPS13C 54832 broad.mit.edu 37 15 62256970 62256970 + Missense_Mutation SNP G G C TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 125ccb76-bf8d-4ce7-a04c-4424d6da0322 8e550489-3da4-4a0f-8c20-b649aa5e7648 g.chr15:62256970G>C ENST00000261517.5 - 31 3215 c.3142C>G c.(3142-3144)Caa>Gaa p.Q1048E VPS13C_ENST00000395898.3_Missense_Mutation_p.Q1005E|VPS13C_ENST00000395896.4_Missense_Mutation_p.Q1048E|VPS13C_ENST00000249837.3_Missense_Mutation_p.Q1005E NM_020821.2 NP_065872.1 Q709C8 VP13C_HUMAN vacuolar protein sorting 13 homolog C (S. cerevisiae) 1048 protein localization NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 117 CTTATGCTTTGATCATCAGAT 0.328000 22 57 0 0 0.002299 0 0 PPP1R16B 26051 broad.mit.edu 37 20 37524339 37524339 + Missense_Mutation SNP G G C TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 125ccb76-bf8d-4ce7-a04c-4424d6da0322 8e550489-3da4-4a0f-8c20-b649aa5e7648 g.chr20:37524339G>C ENST00000299824.1 + 4 642 c.453G>C c.(451-453)aaG>aaC p.K151N PPP1R16B_ENST00000373331.2_Missense_Mutation_p.K151N NM_015568.2 NP_056383.1 Q96T49 PP16B_HUMAN protein phosphatase 1, regulatory subunit 16B 151 regulation of filopodium assembly|signal transduction nucleus|plasma membrane protein phosphatase binding biliary_tract(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(23)|prostate(2)|skin(4)|upper_aerodigestive_tract(2) 49 Myeloproliferative disorder(115;0.00878) ACCTGGTGAAGATCCTCGTTC 0.577000 5 25 0 0 0.000602 0 0 KCNB2 9312 broad.mit.edu 37 8 73849039 73849039 + Silent SNP C C T TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 125ccb76-bf8d-4ce7-a04c-4424d6da0322 8e550489-3da4-4a0f-8c20-b649aa5e7648 g.chr8:73849039C>T ENST00000523207.1 + 3 2037 c.1449C>T c.(1447-1449)gaC>gaT p.D483D NM_004770.2 NP_004761.2 Q92953 KCNB2_HUMAN potassium voltage-gated channel, Shab-related subfamily, member 2 483 regulation of smooth muscle contraction voltage-gated potassium channel complex delayed rectifier potassium channel activity|protein binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1) 85 Breast(64;0.137) Epithelial(68;0.105) ACTCCGCCGACGATAATCACC 0.512000 13 111 0 0 0.001855 0 0 RSRC2 65117 broad.mit.edu 37 12 122991393 122991393 + Silent SNP C C T TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 125ccb76-bf8d-4ce7-a04c-4424d6da0322 8e550489-3da4-4a0f-8c20-b649aa5e7648 g.chr12:122991393C>T ENST00000331738.7 - 9 1258 c.1113G>A c.(1111-1113)ttG>ttA p.L371L RSRC2_ENST00000354654.2_Silent_p.L323L|RSRC2_ENST00000392442.2_5'UTR NM_023012.5 NP_075388.2 Q7L4I2 RSRC2_HUMAN arginine/serine-rich coiled-coil 2 371 breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|skin(2)|urinary_tract(2) 24 all_neural(191;0.0837)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;5.14e-05)|Epithelial(86;0.000183)|BRCA - Breast invasive adenocarcinoma(302;0.201) TAATACCCATCAATTTCCTAA 0.368000 12 116 0 0 0.003163 0 0 PCDH15 65217 broad.mit.edu 37 10 55955577 55955577 + Translation_Start_Site SNP G G C TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 125ccb76-bf8d-4ce7-a04c-4424d6da0322 8e550489-3da4-4a0f-8c20-b649aa5e7648 g.chr10:55955577G>C ENST00000409834.1 - 0 558 PCDH15_ENST00000414778.1_Missense_Mutation_p.Q396E|PCDH15_ENST00000395446.1_Missense_Mutation_p.Q391E|PCDH15_ENST00000395440.1_Missense_Mutation_p.Q391E|PCDH15_ENST00000395433.1_Missense_Mutation_p.Q369E|PCDH15_ENST00000395430.1_Missense_Mutation_p.Q391E|PCDH15_ENST00000373955.1_Missense_Mutation_p.Q391E|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000437009.1_Missense_Mutation_p.Q391E|PCDH15_ENST00000395445.1_Missense_Mutation_p.Q391E|PCDH15_ENST00000361849.3_Missense_Mutation_p.Q391E|PCDH15_ENST00000373965.2_Missense_Mutation_p.Q391E|PCDH15_ENST00000395432.2_Missense_Mutation_p.Q354E|PCDH15_ENST00000395438.1_Missense_Mutation_p.Q391E|PCDH15_ENST00000373957.3_Missense_Mutation_p.Q369E|PCDH15_ENST00000320301.6_Missense_Mutation_p.Q391E Q96QU1 PCD15_HUMAN protocadherin-related 15 equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse calcium ion binding NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1) 237 Melanoma(3;0.117)|Lung SC(717;0.238) TATGGACTTTGATTGTTTTCA 0.393000 HNSCC(58;0.16) 6 47 0 0 0.003080 0 0 PRAMEF11 440560 broad.mit.edu 37 1 12887265 12887265 + Missense_Mutation SNP C C T TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 125ccb76-bf8d-4ce7-a04c-4424d6da0322 8e550489-3da4-4a0f-8c20-b649aa5e7648 g.chr1:12887265C>T ENST00000535591.1 - 3 787 c.592G>A c.(592-594)Gtt>Att p.V198I NM_001146344.1 NP_001139816.1 O60813 PRA11_HUMAN PRAME family member 11 198 NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1) 27 TGGGAGAGAACGAGCTTCTGA 0.517000 12 458 0 0 0.001368 0 0 TP53BP2 7159 broad.mit.edu 37 1 223987709 223987709 + Translation_Start_Site SNP T T A TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 125ccb76-bf8d-4ce7-a04c-4424d6da0322 8e550489-3da4-4a0f-8c20-b649aa5e7648 g.chr1:223987709T>A ENST00000391879.2 - 0 67 TP53BP2_ENST00000343537.7_Missense_Mutation_p.K459N|TP53BP2_ENST00000391878.2_Missense_Mutation_p.K330N|TP53BP2_ENST00000498843.1_5'UTR Q13625 ASPP2_HUMAN tumor protein p53 binding protein, 2 apoptosis|cell cycle|induction of apoptosis|negative regulation of cell cycle|signal transduction nucleus|perinuclear region of cytoplasm NF-kappaB binding|protein binding|SH3 domain binding|SH3/SH2 adaptor activity NS(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(2) 29 GBM - Glioblastoma multiforme(131;0.0958) ACGGACGCACTTTCTTCTCTT 0.428000 5 51 0 0 0.000602 0 0 CHEK2 11200 broad.mit.edu 37 22 29121060 29121060 + Missense_Mutation SNP T T C TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 125ccb76-bf8d-4ce7-a04c-4424d6da0322 8e550489-3da4-4a0f-8c20-b649aa5e7648 g.chr22:29121060T>C ENST00000382580.2 - 5 701 c.626A>G c.(625-627)aAt>aGt p.N209S CHEK2_ENST00000404276.1_Missense_Mutation_p.N166S|CHEK2_ENST00000403642.1_Intron|CHEK2_ENST00000402731.1_Missense_Mutation_p.N166S|CHEK2_ENST00000382578.1_Intron|CHEK2_ENST00000405598.1_Missense_Mutation_p.N166S|CHEK2_ENST00000382566.1_Missense_Mutation_p.N166S|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000544772.1_5'UTR|CHEK2_ENST00000328354.6_Missense_Mutation_p.N166S|CHEK2_ENST00000348295.3_Missense_Mutation_p.N166S NM_001005735.1 NP_001005735.1 O96017 CHK2_HUMAN checkpoint kinase 2 166 cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence PML body ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2) 50 AAAGGTTCCATTGCCACTGTG 0.353000 F breast Direct reversal of damage;Other conserved DNA damage response genes 6 76 0 0 0.001984 0 0 UNC13B 10497 broad.mit.edu 37 9 35231142 35231142 + Silent SNP G G A TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 125ccb76-bf8d-4ce7-a04c-4424d6da0322 8e550489-3da4-4a0f-8c20-b649aa5e7648 g.chr9:35231142G>A ENST00000378495.3 + 3 300 c.78G>A c.(76-78)ctG>ctA p.L26L UNC13B_ENST00000396787.1_Silent_p.L26L|UNC13B_ENST00000378496.4_Silent_p.L26L NM_006377.3 NP_006368.3 O14795 UN13B_HUMAN unc-13 homolog B (C. elegans) 26 C2 1. excretion|induction of apoptosis|intracellular signal transduction cell junction|Golgi apparatus|synapse metal ion binding|receptor activity breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(16)|liver(2)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1) 63 all_epithelial(49;0.212) LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)|STAD - Stomach adenocarcinoma(86;0.194) ATGTGACCCTGAAAGTACAGA 0.393000 5 33 0 0 0.000602 0 0 ARID1B 57492 broad.mit.edu 37 6 157505453 157505453 + Missense_Mutation SNP A A G TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 125ccb76-bf8d-4ce7-a04c-4424d6da0322 8e550489-3da4-4a0f-8c20-b649aa5e7648 g.chr6:157505453A>G ENST00000346085.5 + 13 3435 c.3434A>G c.(3433-3435)tAt>tGt p.Y1145C ARID1B_ENST00000367148.1_Missense_Mutation_p.Y1185C|ARID1B_ENST00000350026.5_Missense_Mutation_p.Y1132C|ARID1B_ENST00000275248.4_Missense_Mutation_p.Y1127C NM_020732.3 NP_065783.3 Q8NFD5 ARI1B_HUMAN AT rich interactive domain 1B (SWI1-like) 1132 chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent SWI/SNF complex DNA binding|protein binding|transcription coactivator activity NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3) 81 Breast(66;0.000162)|Ovarian(120;0.0265) OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05) AAAAAGCAGTATATTCAGTAC 0.517000 13 53 0 0 0.002450 0 0 CPT1B 1375 broad.mit.edu 37 22 51010730 51010730 + Missense_Mutation SNP C C G TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 125ccb76-bf8d-4ce7-a04c-4424d6da0322 8e550489-3da4-4a0f-8c20-b649aa5e7648 g.chr22:51010730C>G ENST00000360719.2 - 12 1497 c.1360G>C c.(1360-1362)Gac>Cac p.D454H CPT1B_ENST00000395650.2_Missense_Mutation_p.D454H|CPT1B_ENST00000434492.2_Missense_Mutation_p.D251H|CPT1B_ENST00000440709.1_Missense_Mutation_p.D373H|CPT1B_ENST00000405237.3_Missense_Mutation_p.D454H|CHKB-CPT1B_ENST00000453634.1_3'UTR|CPT1B_ENST00000312108.7_Missense_Mutation_p.D454H|CPT1B_ENST00000457250.1_Missense_Mutation_p.D420H NM_001145135.1|NM_152245.2 NP_001138607.1|NP_689451.1 Q92523 CPT1B_HUMAN carnitine palmitoyltransferase 1B (muscle) 454 carnitine shuttle|fatty acid beta-oxidation|regulation of fatty acid oxidation integral to membrane|mitochondrial outer membrane carnitine O-palmitoyltransferase activity central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 22 all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113) all cancers(3;3.56e-77)|OV - Ovarian serous cystadenocarcinoma(4;5.39e-74)|Epithelial(4;5.58e-70)|GBM - Glioblastoma multiforme(4;5.59e-08)|LUAD - Lung adenocarcinoma(64;0.0016)|Lung(4;0.00942)|BRCA - Breast invasive adenocarcinoma(115;0.207) AAGGATTTGTCAAACCACCTG 0.507000 6 38 0 0 0.001168 0 0 TSC2 7249 broad.mit.edu 37 16 2098710 2098710 + Missense_Mutation SNP G G C TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 125ccb76-bf8d-4ce7-a04c-4424d6da0322 8e550489-3da4-4a0f-8c20-b649aa5e7648 g.chr16:2098710G>C ENST00000219476.3 + 2 724 c.94G>C c.(94-96)Gag>Cag p.E32Q TSC2_ENST00000353929.4_Missense_Mutation_p.E32Q|TSC2_ENST00000350773.4_Missense_Mutation_p.E32Q|TSC2_ENST00000439673.2_Missense_Mutation_p.E32Q|TSC2_ENST00000568454.1_Missense_Mutation_p.E43Q|TSC2_ENST00000401874.2_Missense_Mutation_p.E32Q|TSC2_ENST00000382538.6_Intron NM_000548.3 NP_000539.2 P49815 TSC2_HUMAN tuberous sclerosis 2 32 Required for interaction with TSC1. cell cycle arrest|endocytosis|heart development|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|negative regulation of cell size|negative regulation of phosphatidylinositol 3-kinase cascade|negative regulation of protein kinase B signaling cascade|negative regulation of TOR signaling cascade|negative regulation of Wnt receptor signaling pathway|nerve growth factor receptor signaling pathway|neural tube closure|phosphatidylinositol-mediated signaling|positive chemotaxis|protein import into nucleus|protein kinase B signaling cascade|regulation of endocytosis|regulation of insulin receptor signaling pathway|regulation of small GTPase mediated signal transduction Golgi apparatus|nucleus|perinuclear region of cytoplasm|TSC1-TSC2 complex GTPase activator activity|protein homodimerization activity NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(3)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|soft_tissue(1) 56 Hepatocellular(780;0.0202) CAGGTCTGCAGAGGGTAAACA 0.502000 """D, Mis, N, F, S""" """hamartoma, renal cell""" Tuberous Sclerosis 9 89 0 0 0.004482 0 0 SLC4A3 6508 broad.mit.edu 37 2 220496825 220496825 + Missense_Mutation SNP G G A TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 125ccb76-bf8d-4ce7-a04c-4424d6da0322 8e550489-3da4-4a0f-8c20-b649aa5e7648 g.chr2:220496825G>A ENST00000358055.3 + 7 1459 c.947G>A c.(946-948)cGg>cAg p.R316Q SLC4A3_ENST00000273063.6_Missense_Mutation_p.R343Q|SLC4A3_ENST00000497589.1_3'UTR|SLC4A3_ENST00000373760.2_Missense_Mutation_p.R316Q|SLC4A3_ENST00000317151.3_Missense_Mutation_p.R316Q|SLC4A3_ENST00000373762.3_Missense_Mutation_p.R343Q P48751 B3A3_HUMAN solute carrier family 4 (anion exchanger), member 3 316 bicarbonate transport integral to plasma membrane|membrane fraction inorganic anion exchanger activity p.R343Q(2) breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(2) 51 Renal(207;0.0183) Epithelial(149;2.53e-07)|all cancers(144;5.57e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) AAGCTGGACCGGAGGCCTCAT 0.652000 4 54 0 0 0.000248 0 0 GP5 2814 broad.mit.edu 37 3 194118031 194118031 + Silent SNP C C G TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 125ccb76-bf8d-4ce7-a04c-4424d6da0322 8e550489-3da4-4a0f-8c20-b649aa5e7648 g.chr3:194118031C>G ENST00000401815.1 - 1 1052 c.981G>C c.(979-981)ctG>ctC p.L327L GP5_ENST00000323007.3_Silent_p.L327L P40197 GPV_HUMAN glycoprotein V (platelet) 327 blood coagulation, intrinsic pathway|cell adhesion|platelet activation integral to plasma membrane breast(3)|central_nervous_system(2)|endometrium(2)|large_intestine(9)|lung(14)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1) 35 all_cancers(143;6.64e-09)|Ovarian(172;0.0634) Melanoma(1037;0.211) OV - Ovarian serous cystadenocarcinoma(49;7.38e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06) GBM - Glioblastoma multiforme(46;4.06e-05) GAAGCGCGCTCAGCCGCGGGC 0.726000 3 22 0 0 0.000248 0 0 ZNF77 58492 broad.mit.edu 37 19 2934164 2934164 + Missense_Mutation SNP C C G TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 125ccb76-bf8d-4ce7-a04c-4424d6da0322 8e550489-3da4-4a0f-8c20-b649aa5e7648 g.chr19:2934164C>G ENST00000314531.4 - 4 1053 c.961G>C c.(961-963)Gag>Cag p.E321Q NM_021217.2 NP_067040.1 Q15935 ZNF77_HUMAN zinc finger protein 77 321 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleolus DNA binding|zinc ion binding breast(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(5)|ovary(1) 17 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|GBM - Glioblastoma multiforme(1328;2.11e-07)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|Lung(535;0.174)|STAD - Stomach adenocarcinoma(1328;0.18) CAGGGTTTCTCTCCAGTGTGC 0.458000 9 91 0 0 0.004482 0 0 SCGB1D1 10648 broad.mit.edu 37 11 61957758 61957758 + Translation_Start_Site SNP T T C TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 125ccb76-bf8d-4ce7-a04c-4424d6da0322 8e550489-3da4-4a0f-8c20-b649aa5e7648 g.chr11:61957758T>C ENST00000306238.3 + 1 71 c.2T>C c.(1-3)aTg>aCg p.M1T NM_006552.1 NP_006543.1 O95968 SG1D1_HUMAN secretoglobin, family 1D, member 1 1 extracellular space binding endometrium(1)|large_intestine(2)|lung(4)|skin(1)|stomach(1) 9 TAAGCCACCATGAGGCTGTCG 0.577000 3 57 0 0 0.004672 0 0 TMEM196 256130 broad.mit.edu 37 7 19765219 19765219 + Missense_Mutation SNP C C A TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 125ccb76-bf8d-4ce7-a04c-4424d6da0322 8e550489-3da4-4a0f-8c20-b649aa5e7648 g.chr7:19765219C>A ENST00000405844.1 - 3 1072 c.377G>T c.(376-378)tGt>tTt p.C126F TMEM196_ENST00000405764.3_Missense_Mutation_p.C126F|TMEM196_ENST00000422233.1_Missense_Mutation_p.C58F|TMEM196_ENST00000493519.1_Missense_Mutation_p.C58F|TMEM196_ENST00000433641.1_Missense_Mutation_p.C58F Q5HYL7 TM196_HUMAN transmembrane protein 196 132 integral to membrane breast(1)|large_intestine(1)|lung(4) 6 GGCTAGTCGACAAGTGAGCCA 0.498000 11 52 6.40141e-05 0.000116362 0.000978 1 0 ARHGEF6 9459 broad.mit.edu 37 X 135862907 135862907 + Silent SNP G G A TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 125ccb76-bf8d-4ce7-a04c-4424d6da0322 8e550489-3da4-4a0f-8c20-b649aa5e7648 g.chrX:135862907G>A ENST00000250617.6 - 1 1340 c.135C>T c.(133-135)atC>atT p.I45I NM_004840.2 NP_004831.1 Q15052 ARHG6_HUMAN Rac/Cdc42 guanine nucleotide exchange factor (GEF) 6 45 CH. apoptosis|cell junction assembly|induction of apoptosis by extracellular signals|JNK cascade|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity|Rho guanyl-nucleotide exchange factor activity cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(1)|lung(14)|prostate(1) 38 Acute lymphoblastic leukemia(192;0.000127) TGAGTCTGTTGATCAGTTTGC 0.433000 9 114 0 0 0.006214 0 0 ITGAM 3684 broad.mit.edu 37 16 31282283 31282283 + Missense_Mutation SNP C C G TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 125ccb76-bf8d-4ce7-a04c-4424d6da0322 8e550489-3da4-4a0f-8c20-b649aa5e7648 g.chr16:31282283C>G ENST00000544665.3 + 6 507 c.436C>G c.(436-438)Caa>Gaa p.Q146E ITGAM_ENST00000287497.8_Missense_Mutation_p.Q146E NM_000632.3|NM_001145808.1 NP_000623.2|NP_001139280.1 P11215 ITAM_HUMAN integrin, alpha M (complement component 3 receptor 3 subunit) 146 blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration integrin complex glycoprotein binding|receptor activity endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(1)|prostate(4)|skin(1) 56 AGGGTGTCCTCAAGAGGATAG 0.453000 42 216 0 0 0.002522 0 0 SI 6476 broad.mit.edu 37 3 164776814 164776814 + Missense_Mutation SNP C C G TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 125ccb76-bf8d-4ce7-a04c-4424d6da0322 8e550489-3da4-4a0f-8c20-b649aa5e7648 g.chr3:164776814C>G ENST00000264382.3 - 12 1397 c.1335G>C c.(1333-1335)gaG>gaC p.E445D NM_001041.3 NP_001032.2 P14410 SUIS_HUMAN sucrase-isomaltase (alpha-glucosidase) 445 Isomaltase. carbohydrate metabolic process|polysaccharide digestion apical plasma membrane|brush border|Golgi apparatus|integral to membrane carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1) 218 Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199) Acarbose(DB00284) TGTTTCCCCTCTCATAGGTTG 0.363000 HNSCC(35;0.089) 3 48 0 0 0.004672 0 0 SYN2 6854 broad.mit.edu 37 3 12046124 12046126 + RNA DEL AGC AGC - rs76272937 TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 125ccb76-bf8d-4ce7-a04c-4424d6da0322 41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a g.chr3:12046124_12046126delAGC ENST00000432424.2 + 0 245_247 Q86VA8 Q86VA8_HUMAN synapsin II neurotransmitter secretion synaptic vesicle ATP binding|ligase activity breast(5)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(5)|ovary(1) 18 AGCCCCAGCAAGCGCCGAcgccg 0.764 3 6 --- --- --- --- IL1RAP 3556 broad.mit.edu 37 3 190362120 190362121 + Frame_Shift_Ins INS - - A TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 125ccb76-bf8d-4ce7-a04c-4424d6da0322 41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a g.chr3:190362120_190362121insA ENST00000412504.2 + 9 1387_1388 c.1135_1136insA c.(1135-1137)tgtfs p.C379fs IL1RAP_ENST00000439062.1_Frame_Shift_Ins_p.C379fs|IL1RAP_ENST00000443369.2_Frame_Shift_Ins_p.C379fs|IL1RAP_ENST00000317757.3_Frame_Shift_Ins_p.C379fs|IL1RAP_ENST00000072516.3_Frame_Shift_Ins_p.C379fs|IL1RAP_ENST00000447382.1_Frame_Shift_Ins_p.C379fs Q9NPH3 IL1AP_HUMAN interleukin 1 receptor accessory protein 379 inflammatory response|innate immune response|protein complex assembly extracellular region|integral to plasma membrane NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 20 all_cancers(143;3.61e-10)|Ovarian(172;0.0733)|Breast(254;0.21) Lung(62;1.95e-06)|LUSC - Lung squamous cell carcinoma(58;2.05e-06) GBM - Glioblastoma multiforme(93;0.00851) TGTTGTTTACCATGTTTACTGG 0.416 20 47 --- --- --- --- XKR5 389610 broad.mit.edu 37 8 6679301 6679302 + RNA DEL CA CA - TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 125ccb76-bf8d-4ce7-a04c-4424d6da0322 41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a g.chr8:6679301_6679302delCA ENST00000518724.1 - 0 958 Q6UX68 XKR5_HUMAN XK, Kell blood group complex subunit-related family, member 5 integral to membrane endometrium(1)|large_intestine(1)|lung(1) 3 STAD - Stomach adenocarcinoma(24;0.0984) READ - Rectum adenocarcinoma(644;0.137)|COAD - Colon adenocarcinoma(149;0.166) TGCATTGGTGcacacacacaca 0.401 3 4 --- --- --- --- SFRP1 6422 broad.mit.edu 37 8 41166638 41166640 + In_Frame_Del DEL GCT GCT - rs3055861 TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 125ccb76-bf8d-4ce7-a04c-4424d6da0322 41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a g.chr8:41166638_41166640delGCT ENST00000220772.3 - 1 376_378 c.39_41delAGC c.(37-42)gcc>gc p.AA13del NM_003012.4 NP_003003.3 Q8N474 SFRP1_HUMAN secreted frizzled-related protein 1 13 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) CACGCCCAGGGCTGCCCCGCGGC 0.764 6 3 --- --- --- --- NOTCH1 4851 broad.mit.edu 37 9 139402819 139402820 + Frame_Shift_Del DEL CA CA - TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 125ccb76-bf8d-4ce7-a04c-4424d6da0322 41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a g.chr9:139402819_139402820delCA ENST00000277541.6 - 20 3264_3265 c.3189_3190delTG c.(3187-3192)tgacfs p.CD1063fs NM_017617.3 NP_060087.3 P46531 NOTC1_HUMAN notch 1 1063 EGF-like 28. aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane calcium ion binding|protein binding|receptor activity breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3) 1359 all_cancers(76;0.223) Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06) GGCGAGGAGTCACACCAGTGCA 0.658 """T, Mis, O""" TRB@ T-ALL HNSCC(8;0.001) 7 237 --- --- --- --- FNBP4 23360 broad.mit.edu 37 11 47788664 47788669 + In_Frame_Del DEL GGTGGT GGTGGT - rs59413596 TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 125ccb76-bf8d-4ce7-a04c-4424d6da0322 41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a g.chr11:47788664_47788669delGGTGGT ENST00000263773.5 - 1 184_189 c.172_177delACCACC c.(172-177)del p.TT58del FNBP4_ENST00000534003.1_5'UTR NM_015308.2 NP_056123.2 Q8N3X1 FNBP4_HUMAN formin binding protein 4 58 p.T58_T59delTT(3) NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(12)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 44 CAGTCACCGCGGTGGTGGTGGTCGTC 0.748 4 5 --- --- --- --- DAAM1 23002 broad.mit.edu 37 14 59792758 59792758 + Frame_Shift_Del DEL T T - TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 125ccb76-bf8d-4ce7-a04c-4424d6da0322 41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a g.chr14:59792758delT ENST00000395125.1 + 9 1160 c.1137delT c.(1135-1137)cafs p.H379fs DAAM1_ENST00000351081.1_Frame_Shift_Del_p.H379fs|DAAM1_ENST00000360909.3_Frame_Shift_Del_p.H379fs NM_014992.2 NP_055807.1 Q9Y4D1 DAAM1_HUMAN dishevelled associated activator of morphogenesis 1 379 GBD/FH3. actin cytoskeleton organization cytoplasm|plasma membrane actin binding|Rho GTPase binding breast(3)|cervix(3)|endometrium(5)|kidney(5)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1) 37 OV - Ovarian serous cystadenocarcinoma(108;0.165) CTTACCCGCATTTCATGTCCA 0.443 7 50 --- --- --- --- UBE2Q2P1 388165 broad.mit.edu 37 15 85077360 85077360 + RNA DEL A A - TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 125ccb76-bf8d-4ce7-a04c-4424d6da0322 41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a g.chr15:85077360delA ENST00000339094.1 - 0 1678 NR_003661.2 tttttaaactaaaaaaaaaaa 0.373 4 2 --- --- --- --- THRA 7067 broad.mit.edu 37 17 38241015 38241022 + Frame_Shift_Del DEL CATCGCAG CATCGCAG - rs11545238 TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 125ccb76-bf8d-4ce7-a04c-4424d6da0322 41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a g.chr17:38241015_38241022delCATCGCAG ENST00000450525.2 + 6 1014_1021 c.523_530delCATCGCAG c.(523-531)cfs p.HRS175fs THRA_ENST00000584985.1_Frame_Shift_Del_p.HRS175fs|THRA_ENST00000394121.4_Frame_Shift_Del_p.HRS175fs|THRA_ENST00000546243.1_Frame_Shift_Del_p.HRS175fs|THRA_ENST00000264637.4_Frame_Shift_Del_p.HRS175fs NM_199334.3 NP_955366.1 P10827 THA_HUMAN thyroid hormone receptor, alpha 175 negative regulation of RNA polymerase II transcriptional preinitiation complex assembly|negative regulation of transcription initiation, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription from RNA polymerase II promoter cytosol|nucleoplasm protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|TBP-class protein binding|thyroid hormone binding|thyroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding endometrium(1)|kidney(3)|large_intestine(2)|lung(4)|prostate(1) 11 Colorectal(19;0.000442) Myeloproliferative disorder(1115;0.0255) Levothyroxine(DB00451)|Liothyronine(DB00279) CACAGAGGCCCATCGCAGCACCAATGCC 0.606 14 186 --- --- --- --- KCNG2 26251 broad.mit.edu 37 18 77623691 77623692 + In_Frame_Ins INS - - GGC rs71338073 TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 125ccb76-bf8d-4ce7-a04c-4424d6da0322 41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a g.chr18:77623691_77623692insGGC ENST00000316249.3 + 1 24_25 c.24_25insGGC c.(22-27)ccgcgg>ccGGCgcgg p.8_9PR>PAR NM_012283.1 NP_036415.1 Q9UJ96 KCNG2_HUMAN potassium voltage-gated channel, subfamily G, member 2 8 energy reserve metabolic process|regulation of heart contraction|regulation of insulin secretion voltage-gated potassium channel complex delayed rectifier potassium channel activity p.P8_G9insG(2) breast(2)|endometrium(4)|lung(7)|skin(1)|upper_aerodigestive_tract(4) 18 Esophageal squamous(42;0.0157)|Melanoma(33;0.144) OV - Ovarian serous cystadenocarcinoma(15;6.92e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0244) CCTGCTccccgggcggcggcgg 0.772 4 5 --- --- --- --- ASXL1 171023 broad.mit.edu 37 20 31022294 31022294 + Frame_Shift_Del DEL A A - TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 125ccb76-bf8d-4ce7-a04c-4424d6da0322 41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a g.chr20:31022294delA ENST00000375687.4 + 13 2203 c.1779delA c.(1777-1779)atfs p.I593fs ASXL1_ENST00000306058.5_Frame_Shift_Del_p.I588fs NM_015338.5 NP_056153.2 Q8IXJ9 ASXL1_HUMAN additional sex combs like 1 (Drosophila) 593 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent PR-DUB complex metal ion binding|protein binding p.Q592fs*5(1)|p.C594fs*25(1) NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(655)|kidney(5)|large_intestine(18)|liver(1)|lung(27)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 722 CTTACCAGATATGCCCCCGGA 0.532 """F, N, Mis""" """MDS, CMML""" 11 91 --- --- --- --- TCEAL3 85012 broad.mit.edu 37 X 102864119 102864120 + Frame_Shift_Ins INS - - A TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 125ccb76-bf8d-4ce7-a04c-4424d6da0322 41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a g.chrX:102864119_102864120insA ENST00000372628.1 + 3 485_486 c.127_128insA c.(127-129)atgfs p.M43fs TCEAL3_ENST00000372627.5_Frame_Shift_Ins_p.M43fs|TCEAL3_ENST00000243286.3_Frame_Shift_Ins_p.M43fs|TCEAL3_ENST00000477014.1_Intron Q969E4 TCAL3_HUMAN transcription elongation factor A (SII)-like 3 43 Glu-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1) 16 ggggaagacagaatgcgaggga 0.535 16 33 --- --- --- --- CACNA1E 777 broad.mit.edu 37 1 181680102 181680103 + Frame_Shift_Del DEL AG AG - TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 125ccb76-bf8d-4ce7-a04c-4424d6da0322 8e550489-3da4-4a0f-8c20-b649aa5e7648 g.chr1:181680102_181680103delAG ENST00000526775.1 + 8 1233_1234 c.1068_1069delAG c.(1066-1071)aaagfs p.KE356fs CACNA1E_ENST00000367567.4_5'UTR|CACNA1E_ENST00000357570.5_Frame_Shift_Del_p.KE307fs|CACNA1E_ENST00000367570.1_Frame_Shift_Del_p.KE356fs|CACNA1E_ENST00000360108.3_Frame_Shift_Del_p.KE356fs|CACNA1E_ENST00000358338.5_Frame_Shift_Del_p.KE307fs|CACNA1E_ENST00000367573.2_Frame_Shift_Del_p.KE356fs NM_001205294.1 NP_001192223.1 Q15878 CAC1E_HUMAN calcium channel, voltage-dependent, R type, alpha 1E subunit 356 energy reserve metabolic process|membrane depolarization|synaptic transmission voltage-gated calcium channel complex voltage-gated calcium channel activity NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 204 AATTTGCCAAAGAGAGAGAGAG 0.510 8 105 --- --- --- --- IL1RAP 3556 broad.mit.edu 37 3 190362120 190362121 + Frame_Shift_Ins INS - - A TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 125ccb76-bf8d-4ce7-a04c-4424d6da0322 8e550489-3da4-4a0f-8c20-b649aa5e7648 g.chr3:190362120_190362121insA ENST00000412504.2 + 9 1387_1388 c.1135_1136insA c.(1135-1137)tgtfs p.C379fs IL1RAP_ENST00000439062.1_Frame_Shift_Ins_p.C379fs|IL1RAP_ENST00000447382.1_Frame_Shift_Ins_p.C379fs|IL1RAP_ENST00000072516.3_Frame_Shift_Ins_p.C379fs|IL1RAP_ENST00000443369.2_Frame_Shift_Ins_p.C379fs|IL1RAP_ENST00000317757.3_Frame_Shift_Ins_p.C379fs Q9NPH3 IL1AP_HUMAN interleukin 1 receptor accessory protein 379 inflammatory response|innate immune response|protein complex assembly extracellular region|integral to plasma membrane NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 20 all_cancers(143;3.61e-10)|Ovarian(172;0.0733)|Breast(254;0.21) Lung(62;1.95e-06)|LUSC - Lung squamous cell carcinoma(58;2.05e-06) GBM - Glioblastoma multiforme(93;0.00851) TGTTGTTTACCATGTTTACTGG 0.416 20 47 --- --- --- --- ZAN 7455 broad.mit.edu 37 7 100369720 100369721 + RNA INS - - T TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 125ccb76-bf8d-4ce7-a04c-4424d6da0322 8e550489-3da4-4a0f-8c20-b649aa5e7648 g.chr7:100369720_100369721insT ENST00000542585.1 + 0 5573 ZAN_ENST00000421100.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000546292.1_RNA NM_003386.1 NP_003377.1 Q9Y493 ZAN_HUMAN zonadhesin (gene/pseudogene) binding of sperm to zona pellucida|cell-cell adhesion integral to membrane|plasma membrane NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3) 139 Lung NSC(181;0.041)|all_lung(186;0.0581) STAD - Stomach adenocarcinoma(171;0.19) cctctaaattcttttttttttt 0.535 2 4 --- --- --- --- NOTCH1 4851 broad.mit.edu 37 9 139402819 139402820 + Frame_Shift_Del DEL CA CA - TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 125ccb76-bf8d-4ce7-a04c-4424d6da0322 8e550489-3da4-4a0f-8c20-b649aa5e7648 g.chr9:139402819_139402820delCA ENST00000277541.6 - 20 3264_3265 c.3189_3190delTG c.(3187-3192)tgacfs p.CD1063fs NM_017617.3 NP_060087.3 P46531 NOTC1_HUMAN notch 1 1063 EGF-like 28. aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane calcium ion binding|protein binding|receptor activity breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3) 1359 all_cancers(76;0.223) Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06) GGCGAGGAGTCACACCAGTGCA 0.658 """T, Mis, O""" TRB@ T-ALL HNSCC(8;0.001) 7 237 --- --- --- --- DAAM1 23002 broad.mit.edu 37 14 59792758 59792758 + Frame_Shift_Del DEL T T - TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 125ccb76-bf8d-4ce7-a04c-4424d6da0322 8e550489-3da4-4a0f-8c20-b649aa5e7648 g.chr14:59792758delT ENST00000395125.1 + 9 1160 c.1137delT c.(1135-1137)cafs p.H379fs DAAM1_ENST00000360909.3_Frame_Shift_Del_p.H379fs|DAAM1_ENST00000351081.1_Frame_Shift_Del_p.H379fs NM_014992.2 NP_055807.1 Q9Y4D1 DAAM1_HUMAN dishevelled associated activator of morphogenesis 1 379 GBD/FH3. actin cytoskeleton organization cytoplasm|plasma membrane actin binding|Rho GTPase binding breast(3)|cervix(3)|endometrium(5)|kidney(5)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1) 37 OV - Ovarian serous cystadenocarcinoma(108;0.165) CTTACCCGCATTTCATGTCCA 0.443 7 50 --- --- --- --- THRA 7067 broad.mit.edu 37 17 38241015 38241022 + Frame_Shift_Del DEL CATCGCAG CATCGCAG - rs11545238 TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 125ccb76-bf8d-4ce7-a04c-4424d6da0322 8e550489-3da4-4a0f-8c20-b649aa5e7648 g.chr17:38241015_38241022delCATCGCAG ENST00000450525.2 + 6 1014_1021 c.523_530delCATCGCAG c.(523-531)cfs p.HRS175fs THRA_ENST00000546243.1_Frame_Shift_Del_p.HRS175fs|THRA_ENST00000264637.4_Frame_Shift_Del_p.HRS175fs|THRA_ENST00000394121.4_Frame_Shift_Del_p.HRS175fs|THRA_ENST00000584985.1_Frame_Shift_Del_p.HRS175fs NM_199334.3 NP_955366.1 P10827 THA_HUMAN thyroid hormone receptor, alpha 175 negative regulation of RNA polymerase II transcriptional preinitiation complex assembly|negative regulation of transcription initiation, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription from RNA polymerase II promoter cytosol|nucleoplasm protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|TBP-class protein binding|thyroid hormone binding|thyroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding endometrium(1)|kidney(3)|large_intestine(2)|lung(4)|prostate(1) 11 Colorectal(19;0.000442) Myeloproliferative disorder(1115;0.0255) Levothyroxine(DB00451)|Liothyronine(DB00279) CACAGAGGCCCATCGCAGCACCAATGCC 0.606 14 186 --- --- --- --- ASXL1 171023 broad.mit.edu 37 20 31022294 31022294 + Frame_Shift_Del DEL A A - TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 125ccb76-bf8d-4ce7-a04c-4424d6da0322 8e550489-3da4-4a0f-8c20-b649aa5e7648 g.chr20:31022294delA ENST00000375687.4 + 13 2203 c.1779delA c.(1777-1779)atfs p.I593fs ASXL1_ENST00000306058.5_Frame_Shift_Del_p.I588fs NM_015338.5 NP_056153.2 Q8IXJ9 ASXL1_HUMAN additional sex combs like 1 (Drosophila) 593 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent PR-DUB complex metal ion binding|protein binding p.Q592fs*5(1)|p.C594fs*25(1) NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(655)|kidney(5)|large_intestine(18)|liver(1)|lung(27)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 722 CTTACCAGATATGCCCCCGGA 0.532 """F, N, Mis""" """MDS, CMML""" 11 91 --- --- --- --- TCEAL3 85012 broad.mit.edu 37 X 102864119 102864120 + Frame_Shift_Ins INS - - A TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 125ccb76-bf8d-4ce7-a04c-4424d6da0322 8e550489-3da4-4a0f-8c20-b649aa5e7648 g.chrX:102864119_102864120insA ENST00000372628.1 + 3 485_486 c.127_128insA c.(127-129)atgfs p.M43fs TCEAL3_ENST00000372627.5_Frame_Shift_Ins_p.M43fs|TCEAL3_ENST00000243286.3_Frame_Shift_Ins_p.M43fs|TCEAL3_ENST00000477014.1_Intron Q969E4 TCAL3_HUMAN transcription elongation factor A (SII)-like 3 43 Glu-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1) 16 ggggaagacagaatgcgaggga 0.535 16 33 --- --- --- ---