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 NPL 80896 broad.mit.edu 37 1 182781338 182781338 + Missense_Mutation SNP C C T TCGA-E7-A97P-01A-11D-A38G-08 TCGA-E7-A97P-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18b5c355-e247-4694-9d46-770aa838190c 22cf4b93-69d7-44aa-a47c-b2799d224f5b g.chr1:182781338C>T ENST00000367554.3 + 4 539 c.221C>T c.(220-222)tCa>tTa p.S74L NPL_ENST00000367555.1_Missense_Mutation_p.S93L|NPL_ENST00000258317.2_Missense_Mutation_p.S93L|NPL_ENST00000463899.1_3'UTR|NPL_ENST00000367552.2_Missense_Mutation_p.S93L|NPL_ENST00000367553.1_Missense_Mutation_p.S93L NM_001200050.1 NP_001186979.1 Q9BXD5 NPL_HUMAN N-acetylneuraminate pyruvate lyase (dihydrodipicolinate synthase) 93 carbohydrate metabolic process cytoplasm N-acetylneuraminate lyase activity breast(1)|central_nervous_system(1)|large_intestine(5)|liver(1)|lung(4)|ovary(1)|skin(1)|stomach(1) 15 TTGAAGGAGTCACAGGAACTG 0.443000 10 30 0 0 1 0 0 HELB 92797 broad.mit.edu 37 12 66703654 66703654 + Missense_Mutation SNP A A G TCGA-E7-A97P-01A-11D-A38G-08 TCGA-E7-A97P-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18b5c355-e247-4694-9d46-770aa838190c 22cf4b93-69d7-44aa-a47c-b2799d224f5b g.chr12:66703654A>G ENST00000247815.4 + 4 1005 c.946A>G c.(946-948)Aat>Gat p.N316D NM_033647.3 NP_387467.2 Q8NG08 HELB_HUMAN helicase (DNA) B 316 DNA replication, synthesis of RNA primer ATP binding|ATP-dependent 5'-3' DNA helicase activity|single-stranded DNA-dependent ATP-dependent DNA helicase activity autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1) 40 GBM - Glioblastoma multiforme(2;0.000142) GBM - Glioblastoma multiforme(28;0.0265) TGTTGAAGTGAATGACTTAAC 0.373000 24 110 0 0 1 0 0 EML3 256364 broad.mit.edu 37 11 62376855 62376855 + Silent SNP T T C TCGA-E7-A97P-01A-11D-A38G-08 TCGA-E7-A97P-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18b5c355-e247-4694-9d46-770aa838190c 22cf4b93-69d7-44aa-a47c-b2799d224f5b g.chr11:62376855T>C ENST00000394773.2 - 6 1036 c.729A>G c.(727-729)ccA>ccG p.P243P EML3_ENST00000278845.4_Silent_p.P244P|EML3_ENST00000494176.2_Silent_p.P215P|EML3_ENST00000529309.1_Silent_p.P243P|EML3_ENST00000531557.1_Silent_p.P26P NM_153265.2 NP_694997.2 Q32P44 EMAL3_HUMAN echinoderm microtubule associated protein like 3 243 cytoplasm|microtubule protein binding biliary_tract(1)|breast(3)|endometrium(4)|kidney(2)|large_intestine(1)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 26 TCTCTGGCGGTGGGCCACTCG 0.572000 25 55 0 0 1 0 0 OR5W2 390148 broad.mit.edu 37 11 55681984 55681984 + Silent SNP C C A TCGA-E7-A97P-01A-11D-A38G-08 TCGA-E7-A97P-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18b5c355-e247-4694-9d46-770aa838190c 22cf4b93-69d7-44aa-a47c-b2799d224f5b g.chr11:55681984C>A ENST00000344514.1 - 1 74 c.75G>T c.(73-75)gtG>gtT p.V25V NM_001001960.1 NP_001001960.1 Q8NH69 OR5W2_HUMAN olfactory receptor, family 5, subfamily W, member 2 25 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(28)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 49 CAAATAGGGTCACTTTCATCT 0.353000 21 35 0.000175454 0.000184452 1 1 0 RGS22 26166 broad.mit.edu 37 8 100999771 100999771 + Missense_Mutation SNP G G A TCGA-E7-A97P-01A-11D-A38G-08 TCGA-E7-A97P-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18b5c355-e247-4694-9d46-770aa838190c 22cf4b93-69d7-44aa-a47c-b2799d224f5b g.chr8:100999771G>A ENST00000360863.6 - 21 3289 c.3095C>T c.(3094-3096)tCa>tTa p.S1032L RGS22_ENST00000523437.1_Missense_Mutation_p.S1020L|RGS22_ENST00000523287.1_Missense_Mutation_p.S851L NM_015668.3 NP_056483.3 Q8NE09 RGS22_HUMAN regulator of G-protein signaling 22 1032 RGS 2. negative regulation of signal transduction cytoplasm|plasma membrane GTPase activator activity|signal transducer activity RGS22/SYCP1(2) breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(33)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 68 Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169) AAATTGTCTTGAAGTAACTGG 0.353000 11 46 0 0 1 0 0 SIPA1L2 57568 broad.mit.edu 37 1 232601013 232601013 + Missense_Mutation SNP C C A TCGA-E7-A97P-01A-11D-A38G-08 TCGA-E7-A97P-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18b5c355-e247-4694-9d46-770aa838190c 22cf4b93-69d7-44aa-a47c-b2799d224f5b g.chr1:232601013C>A ENST00000366630.1 - 8 2751 c.2393G>T c.(2392-2394)cGa>cTa p.R798L SIPA1L2_ENST00000262861.4_Missense_Mutation_p.R798L Q9P2F8 SI1L2_HUMAN signal-induced proliferation-associated 1 like 2 798 Rap-GAP. regulation of small GTPase mediated signal transduction intracellular GTPase activator activity NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 103 all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186) GGCCATTGCTCGAAACTTTTC 0.468000 28 105 5.45727e-16 6.34104e-16 1 1 0 KIF6 221458 broad.mit.edu 37 6 39328252 39328252 + Silent SNP C C T TCGA-E7-A97P-01A-11D-A38G-08 TCGA-E7-A97P-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18b5c355-e247-4694-9d46-770aa838190c 22cf4b93-69d7-44aa-a47c-b2799d224f5b g.chr6:39328252C>T ENST00000287152.7 - 18 2095 c.2001G>A c.(1999-2001)ttG>ttA p.L667L KIF6_ENST00000373215.3_Silent_p.L650L|KIF6_ENST00000541946.1_Silent_p.L118L|KIF6_ENST00000538893.1_Silent_p.L611L|KIF6_ENST00000394362.1_Silent_p.L118L|KIF6_ENST00000373216.3_Silent_p.L667L|KIF6_ENST00000373213.4_Silent_p.L506L|KIF6_ENST00000229913.5_Silent_p.L118L NM_145027.4 NP_659464.3 Q6ZMV9 KIF6_HUMAN kinesin family member 6 667 microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity|protein binding breast(2)|central_nervous_system(1)|endometrium(1)|kidney(16)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 52 TGAGCAGCTGCAAGTGCTCGA 0.537000 19 58 0 0 1 0 0 RBBP6 5930 broad.mit.edu 37 16 24582507 24582507 + Missense_Mutation SNP C C G TCGA-E7-A97P-01A-11D-A38G-08 TCGA-E7-A97P-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18b5c355-e247-4694-9d46-770aa838190c 22cf4b93-69d7-44aa-a47c-b2799d224f5b g.chr16:24582507C>G ENST00000319715.4 + 18 4552 c.4120C>G c.(4120-4122)Cag>Gag p.Q1374E RBBP6_ENST00000381039.3_Missense_Mutation_p.Q534E|RBBP6_ENST00000348022.2_Missense_Mutation_p.Q1340E NM_006910.4 NP_008841.2 Q7Z6E9 RBBP6_HUMAN retinoblastoma binding protein 6 1374 protein ubiquitination involved in ubiquitin-dependent protein catabolic process chromosome|nucleolus|ubiquitin ligase complex nucleic acid binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(1) 46 GBM - Glioblastoma multiforme(48;0.0518) CGAGAAAATTCAGAAATTCAC 0.358000 7 32 0 0 1 0 0 MMP16 4325 broad.mit.edu 37 8 89128907 89128907 + Silent SNP C C A rs149503873 byFrequency TCGA-E7-A97P-01A-11D-A38G-08 TCGA-E7-A97P-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18b5c355-e247-4694-9d46-770aa838190c 22cf4b93-69d7-44aa-a47c-b2799d224f5b g.chr8:89128907C>A ENST00000286614.6 - 6 1193 c.912G>T c.(910-912)ccG>ccT p.P304P MMP16_ENST00000544227.1_5'UTR NM_005941.4 NP_005932.2 P51512 MMP16_HUMAN matrix metallopeptidase 16 (membrane-inserted) 304 collagen catabolic process|proteolysis cell surface|integral to plasma membrane|proteinaceous extracellular matrix calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding p.P304P(1) breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(51)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(3) 81 GGGGCACTGTCGGTAGAGGTC 0.522000 18 113 2.35188e-11 2.65744e-11 1 1 0 TP53BP1 7158 broad.mit.edu 37 15 43769952 43769952 + Missense_Mutation SNP T T C TCGA-E7-A97P-01A-11D-A38G-08 TCGA-E7-A97P-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18b5c355-e247-4694-9d46-770aa838190c 22cf4b93-69d7-44aa-a47c-b2799d224f5b g.chr15:43769952T>C ENST00000263801.3 - 8 1031 c.779A>G c.(778-780)gAg>gGg p.E260G TP53BP1_ENST00000382044.4_Missense_Mutation_p.E265G|TP53BP1_ENST00000382039.3_Missense_Mutation_p.E265G|TP53BP1_ENST00000450115.2_Missense_Mutation_p.E265G NM_005657.2 NP_005648.1 Q12888 TP53B_HUMAN tumor protein p53 binding protein 1 260 double-strand break repair via homologous recombination|positive regulation of transcription from RNA polymerase II promoter condensed chromosome kinetochore|cytoplasm|nucleoplasm p53 binding|RNA polymerase II activating transcription factor binding|RNA polymerase II transcription cofactor activity breast(4)|endometrium(5)|kidney(7)|large_intestine(22)|lung(13)|ovary(4)|pancreas(2)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(3) 72 all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728) GBM - Glioblastoma multiforme(94;1.59e-06) AGGCATGTCCTCTGACCTAGG 0.363000 Other conserved DNA damage response genes 3 75 0 0 1 0 0 PPP1R3A 5506 broad.mit.edu 37 7 113519786 113519786 + Missense_Mutation SNP G G A TCGA-E7-A97P-01A-11D-A38G-08 TCGA-E7-A97P-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18b5c355-e247-4694-9d46-770aa838190c 22cf4b93-69d7-44aa-a47c-b2799d224f5b g.chr7:113519786G>A ENST00000284601.3 - 4 1429 c.1361C>T c.(1360-1362)cCt>cTt p.P454L NM_002711.3 NP_002702.2 Q16821 PPR3A_HUMAN protein phosphatase 1, regulatory subunit 3A 454 glycogen metabolic process integral to membrane NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2) 121 AGAGGGGCAAGGTATTTGCAC 0.393000 12 76 0 0 1 0 0 FOSL1 8061 broad.mit.edu 37 11 65664290 65664290 + Missense_Mutation SNP G G A TCGA-E7-A97P-01A-11D-A38G-08 TCGA-E7-A97P-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18b5c355-e247-4694-9d46-770aa838190c 22cf4b93-69d7-44aa-a47c-b2799d224f5b g.chr11:65664290G>A ENST00000312562.2 - 2 473 c.287C>T c.(286-288)cCt>cTt p.P96L FOSL1_ENST00000532401.1_Missense_Mutation_p.P96L|FOSL1_ENST00000448083.2_Intron|FOSL1_ENST00000531493.1_Missense_Mutation_p.P96L NM_005438.3 NP_005429.1 P15407 FOSL1_HUMAN FOS-like antigen 1 96 cellular defense response|chemotaxis|positive regulation of cell proliferation|response to virus|transcription from RNA polymerase II promoter nucleus protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|endometrium(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1) 10 READ - Rectum adenocarcinoma(159;0.168) CTGTTCACAAGGCCTTCGACG 0.637000 10 46 0 0 1 0 0 FST 10468 broad.mit.edu 37 5 52778754 52778754 + Missense_Mutation SNP G G T TCGA-E7-A97P-01A-11D-A38G-08 TCGA-E7-A97P-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18b5c355-e247-4694-9d46-770aa838190c 22cf4b93-69d7-44aa-a47c-b2799d224f5b g.chr5:52778754G>T ENST00000396947.3 + 2 296 c.130G>T c.(130-132)Gtc>Ttc p.V44F FST_ENST00000256759.3_Missense_Mutation_p.V44F NM_006350.3 NP_006341.1 P19883 FST_HUMAN follistatin 44 TB. hemopoietic progenitor cell differentiation|negative regulation of activin receptor signaling pathway|negative regulation of follicle-stimulating hormone secretion|negative regulation of transcription from RNA polymerase II promoter|positive regulation of hair follicle development extracellular region activin binding|protein binding|signal transducer activity breast(1)|endometrium(1)|large_intestine(4)|lung(7)|prostate(1)|urinary_tract(1) 15 Ovarian(174;1.78e-06)|Lung NSC(810;3.55e-06)|Breast(144;4.08e-05) CCGCTGCCAGGTCCTGTACAA 0.617000 OREG0016608 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 10 18 0.00621372 0.00630154 1 1 0 ADCK4 79934 broad.mit.edu 37 19 41220456 41220456 + Missense_Mutation SNP C C G TCGA-E7-A97P-01A-11D-A38G-08 TCGA-E7-A97P-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18b5c355-e247-4694-9d46-770aa838190c 22cf4b93-69d7-44aa-a47c-b2799d224f5b g.chr19:41220456C>G ENST00000324464.3 - 2 383 c.82G>C c.(82-84)Ggg>Cgg p.G28R ADCK4_ENST00000450541.1_Missense_Mutation_p.G28R|ADCK4_ENST00000243583.6_Missense_Mutation_p.G28R NM_024876.3 NP_079152.3 Q96D53 ADCK4_HUMAN aarF domain containing kinase 4 28 integral to membrane protein serine/threonine kinase activity NS(1)|breast(1)|endometrium(3)|large_intestine(3)|lung(6)|stomach(2)|urinary_tract(1) 17 Lung(22;9.49e-05)|LUSC - Lung squamous cell carcinoma(20;0.000219) GGCCCAGGCCCCAGGGCCCCA 0.647000 16 35 0 0 1 0 0 ZNF345 25850 broad.mit.edu 37 19 37368673 37368673 + Missense_Mutation SNP A A G TCGA-E7-A97P-01A-11D-A38G-08 TCGA-E7-A97P-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18b5c355-e247-4694-9d46-770aa838190c 22cf4b93-69d7-44aa-a47c-b2799d224f5b g.chr19:37368673A>G ENST00000529555.1 + 2 1729 c.941A>G c.(940-942)tAt>tGt p.Y314C ZNF345_ENST00000589046.1_Missense_Mutation_p.Y314C|ZNF345_ENST00000526123.1_Intron|ZNF345_ENST00000432005.2_Intron|ZNF345_ENST00000420450.1_Missense_Mutation_p.Y314C Q14585 ZN345_HUMAN zinc finger protein 345 314 negative regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase III promoter|transcription from RNA polymerase II promoter|transcription from RNA polymerase III promoter nucleus DNA binding|zinc ion binding breast(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(5)|ovary(2)|prostate(1) 24 Esophageal squamous(110;0.183) COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) GAGAAACCCTATGAGTGTAAG 0.398000 16 61 0 0 1 0 0 PLD1 5337 broad.mit.edu 37 3 171410146 171410146 + Missense_Mutation SNP C C A TCGA-E7-A97P-01A-11D-A38G-08 TCGA-E7-A97P-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18b5c355-e247-4694-9d46-770aa838190c 22cf4b93-69d7-44aa-a47c-b2799d224f5b g.chr3:171410146C>A ENST00000356327.5 - 13 1384 c.1314G>T c.(1312-1314)ttG>ttT p.L438F PLD1_ENST00000340989.4_Missense_Mutation_p.L438F|PLD1_ENST00000342215.6_Missense_Mutation_p.L438F|PLD1_ENST00000351298.4_Missense_Mutation_p.L438F NM_001130081.2 NP_001123553.1 Q13393 PLD1_HUMAN phospholipase D1, phosphatidylcholine-specific 438 cell communication|chemotaxis|Ras protein signal transduction endoplasmic reticulum membrane|Golgi membrane|late endosome membrane|perinuclear region of cytoplasm NAPE-specific phospholipase D activity|phosphatidylinositol binding|phospholipase D activity breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|lung(27)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 63 all_cancers(22;4.53e-19)|Ovarian(172;0.00197)|Breast(254;0.186) LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14) Choline(DB00122) GTAGACGCATCAAAGTCCTCT 0.393000 19 59 1.33834e-09 1.48302e-09 1 1 0 LMF2 91289 broad.mit.edu 37 22 50945329 50945329 + Missense_Mutation SNP C C T TCGA-E7-A97P-01A-11D-A38G-08 TCGA-E7-A97P-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18b5c355-e247-4694-9d46-770aa838190c 22cf4b93-69d7-44aa-a47c-b2799d224f5b g.chr22:50945329C>T ENST00000216080.5 - 2 323 c.155G>A c.(154-156)gGc>gAc p.G52D LMF2_ENST00000505981.1_5'UTR|LMF2_ENST00000380796.3_Missense_Mutation_p.G77D|LMF2_ENST00000474879.2_Missense_Mutation_p.G77D Q9BU23 LMF2_HUMAN lipase maturation factor 2 77 endoplasmic reticulum membrane|integral to membrane breast(1)|cervix(1)|kidney(1)|lung(4)|prostate(1)|skin(2) 10 all_cancers(38;1.31e-09)|all_epithelial(38;1.81e-08)|all_lung(38;0.000817)|Breast(42;0.00387)|Lung NSC(38;0.0124)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178) BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247) CAGCTCCAGGCCCTGGGCCGT 0.701000 3 7 0 0 1 0 0 ANKRD20A8P 729171 broad.mit.edu 37 2 95519022 95519022 + RNA SNP A A G TCGA-E7-A97P-01A-11D-A38G-08 TCGA-E7-A97P-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18b5c355-e247-4694-9d46-770aa838190c 22cf4b93-69d7-44aa-a47c-b2799d224f5b g.chr2:95519022A>G ENST00000432432.2 - 0 529 NR_040113.1 TATACACAGCATAATGGAGAG 0.468000 42 188 0 0 1 0 0 LMTK2 22853 broad.mit.edu 37 7 97821567 97821567 + Missense_Mutation SNP T T C TCGA-E7-A97P-01A-11D-A38G-08 TCGA-E7-A97P-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18b5c355-e247-4694-9d46-770aa838190c 22cf4b93-69d7-44aa-a47c-b2799d224f5b g.chr7:97821567T>C ENST00000297293.5 + 11 2083 c.1790T>C c.(1789-1791)cTt>cCt p.L597P NM_014916.3 NP_055731.2 Q8IWU2 LMTK2_HUMAN lemur tyrosine kinase 2 597 early endosome to late endosome transport|endocytic recycling|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation|receptor recycling|transferrin transport early endosome|Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|recycling endosome ATP binding|myosin VI binding|protein phosphatase inhibitor activity|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(2)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|pancreas(2)|skin(2)|stomach(3) 59 all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125) AGCGTTGAACTTGAGGAGTCC 0.552000 10 35 0 0 1 0 0 ALDOC 230 broad.mit.edu 37 17 26901578 26901578 + Missense_Mutation SNP A A C TCGA-E7-A97P-01A-11D-A38G-08 TCGA-E7-A97P-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18b5c355-e247-4694-9d46-770aa838190c 22cf4b93-69d7-44aa-a47c-b2799d224f5b g.chr17:26901578A>C ENST00000226253.4 - 6 1033 c.558T>G c.(556-558)atT>atG p.I186M ALDOC_ENST00000395319.3_Intron|ALDOC_ENST00000395321.2_Missense_Mutation_p.I186M NM_005165.2 NP_005156.1 P09972 ALDOC_HUMAN aldolase C, fructose-bisphosphate 186 fructose 1,6-bisphosphate metabolic process|gluconeogenesis|glycolysis cytosol cytoskeletal protein binding|fructose-bisphosphate aldolase activity breast(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1) 11 Lung NSC(42;0.00431) CAGGTTCCACAATAGGCACAA 0.507000 OREG0024278 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 54 84 0 0 1 0 0 EEA1 8411 broad.mit.edu 37 12 93221728 93221728 + Missense_Mutation SNP A A G TCGA-E7-A97P-01A-11D-A38G-08 TCGA-E7-A97P-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18b5c355-e247-4694-9d46-770aa838190c 22cf4b93-69d7-44aa-a47c-b2799d224f5b g.chr12:93221728A>G ENST00000322349.8 - 12 1628 c.1364T>C c.(1363-1365)gTg>gCg p.V455A NM_003566.3 NP_003557 Q15075 EEA1_HUMAN early endosome antigen 1 455 Gln/Glu/Lys-rich. early endosome to late endosome transport|synaptic vesicle to endosome fusion|vesicle fusion cytosol|early endosome membrane|extrinsic to plasma membrane|membrane fraction 1-phosphatidylinositol binding|calmodulin binding|GTP-dependent protein binding|protein homodimerization activity|zinc ion binding endometrium(5)|kidney(5)|large_intestine(11)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(3) 36 TAAATCAGCCACTTGTTGTTC 0.403000 28 83 0 0 1 0 0 CD1D 912 broad.mit.edu 37 1 158152732 158152732 + Nonsense_Mutation SNP C C A TCGA-E7-A97P-01A-11D-A38G-08 TCGA-E7-A97P-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18b5c355-e247-4694-9d46-770aa838190c 22cf4b93-69d7-44aa-a47c-b2799d224f5b g.chr1:158152732C>A ENST00000368171.3 + 5 1171 c.672C>A c.(670-672)tgC>tgA p.C224* NM_001766.3 NP_001757.1 P15813 CD1D_HUMAN CD1d molecule 224 Ig-like. antigen processing and presentation, endogenous lipid antigen via MHC class Ib|detection of bacterium|innate immune response|interspecies interaction between organisms|positive regulation of innate immune response|T cell selection endosome membrane|integral to plasma membrane|lysosomal membrane beta-2-microglobulin binding|exogenous lipid antigen binding|histone binding endometrium(1)|kidney(2)|large_intestine(2)|lung(19)|ovary(1)|prostate(3)|urinary_tract(2) 30 all_hematologic(112;0.0378) TGCTGGTGTGCCATGTCTCAG 0.607000 29 96 1.38267e-23 1.6197e-23 1 1 0 PTPN4 5775 broad.mit.edu 37 2 120620165 120620165 + Missense_Mutation SNP G G T TCGA-E7-A97P-01A-11D-A38G-08 TCGA-E7-A97P-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18b5c355-e247-4694-9d46-770aa838190c 22cf4b93-69d7-44aa-a47c-b2799d224f5b g.chr2:120620165G>T ENST00000263708.2 + 3 963 c.192G>T c.(190-192)ttG>ttT p.L64F NM_002830.3 NP_002821.1 P29074 PTN4_HUMAN protein tyrosine phosphatase, non-receptor type 4 (megakaryocyte) 64 FERM. cytoplasm|cytoskeleton|internal side of plasma membrane cytoskeletal protein binding|non-membrane spanning protein tyrosine phosphatase activity endometrium(3)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|urinary_tract(1) 30 Alendronate(DB00630) ATCTAGATTTGACTGAGCAGG 0.343000 12 87 7.93312e-07 8.59172e-07 1 1 0 FKBP6 8468 broad.mit.edu 37 7 72754661 72754661 + Nonsense_Mutation SNP C C T TCGA-E7-A97P-01A-11D-A38G-08 TCGA-E7-A97P-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18b5c355-e247-4694-9d46-770aa838190c 22cf4b93-69d7-44aa-a47c-b2799d224f5b g.chr7:72754661C>T ENST00000252037.4 + 6 679 c.610C>T c.(610-612)Cga>Tga p.R204* FKBP6_ENST00000413573.2_Nonsense_Mutation_p.R174*|FKBP6_ENST00000431982.2_Nonsense_Mutation_p.R199* NM_003602.3 NP_003593.3 O75344 FKBP6_HUMAN FK506 binding protein 6, 36kDa 204 protein folding membrane FK506 binding|peptidyl-prolyl cis-trans isomerase activity central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10) 16 Lung NSC(55;0.0908)|all_lung(88;0.198) TCTGCGCCGGCGATCAGCACC 0.537000 13 39 0 0 1 0 0 SOD1 6647 broad.mit.edu 37 21 33032093 33032093 + Missense_Mutation SNP A A G TCGA-E7-A97P-01A-11D-A38G-08 TCGA-E7-A97P-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18b5c355-e247-4694-9d46-770aa838190c 22cf4b93-69d7-44aa-a47c-b2799d224f5b g.chr21:33032093A>G ENST00000270142.6 + 1 159 c.11A>G c.(10-12)aAg>aGg p.K4R SOD1_ENST00000389995.4_Missense_Mutation_p.K4R|SOD1_ENST00000470944.1_3'UTR NM_000454.4 NP_000445.1 P00441 SODC_HUMAN superoxide dismutase 1, soluble 4 activation of MAPK activity|auditory receptor cell stereocilium organization|cell aging|cellular iron ion homeostasis|DNA fragmentation involved in apoptotic nuclear change|double-strand break repair|embryo implantation|glutathione metabolic process|heart contraction|hydrogen peroxide biosynthetic process|locomotory behavior|muscle cell homeostasis|myeloid cell homeostasis|negative regulation of cholesterol biosynthetic process|negative regulation of neuron apoptosis|neurofilament cytoskeleton organization|ovarian follicle development|peripheral nervous system myelin maintenance|placenta development|platelet activation|platelet degranulation|positive regulation of cytokine production|regulation of blood pressure|regulation of mitochondrial membrane potential|regulation of multicellular organism growth|regulation of organ growth|regulation of T cell differentiation in thymus|relaxation of vascular smooth muscle|removal of superoxide radicals|response to axon injury|response to drug|response to ethanol|response to heat|response to hydrogen peroxide|retina homeostasis|sensory perception of sound|spermatogenesis|thymus development cytoplasmic vesicle|cytosol|dendrite cytoplasm|extracellular matrix|extracellular space|mitochondrial matrix|neuronal cell body|nucleus|peroxisome|protein complex chaperone binding|copper ion binding|protein homodimerization activity|protein phosphatase 2B binding|superoxide dismutase activity|zinc ion binding NS(1)|endometrium(2)|kidney(1) 4 ATGGCGACGAAGGCCGTGTGC 0.637000 7 40 0 0 1 0 0 NIN 51199 broad.mit.edu 37 14 51243772 51243772 + Silent SNP C C T TCGA-E7-A97P-01A-11D-A38G-08 TCGA-E7-A97P-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18b5c355-e247-4694-9d46-770aa838190c 22cf4b93-69d7-44aa-a47c-b2799d224f5b g.chr14:51243772C>T ENST00000245441.5 - 7 751 c.561G>A c.(559-561)ctG>ctA p.L187L NIN_ENST00000389868.3_Silent_p.L187L|NIN_ENST00000530997.2_Silent_p.L187L|NIN_ENST00000324330.9_Silent_p.L187L|NIN_ENST00000382041.3_Silent_p.L187L|NIN_ENST00000382043.4_Silent_p.L187L|NIN_ENST00000453196.1_Silent_p.L187L NM_020921.3 NP_065972 Q8N4C6 NIN_HUMAN ninein (GSK3B interacting protein) 187 EF-hand 3. centrosome localization centrosome|microtubule calcium ion binding|GTP binding|protein binding breast(4)|central_nervous_system(1)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(13)|lung(16)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5) 71 all_epithelial(31;0.00244)|Breast(41;0.127) AAACTTCTTGCAGTTTCTCTT 0.478000 T PDGFRB MPD 6 72 0 0 1 0 0 FBXL4 26235 broad.mit.edu 37 6 99347204 99347204 + Missense_Mutation SNP G G C TCGA-E7-A97P-01A-11D-A38G-08 TCGA-E7-A97P-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18b5c355-e247-4694-9d46-770aa838190c 22cf4b93-69d7-44aa-a47c-b2799d224f5b g.chr6:99347204G>C ENST00000369244.2 - 7 1685 c.1257C>G c.(1255-1257)ttC>ttG p.F419L FBXL4_ENST00000229971.1_Missense_Mutation_p.F419L NM_001278716.1 NP_001265645.1 Q9UKA2 FBXL4_HUMAN F-box and leucine-rich repeat protein 4 419 ubiquitin-dependent protein catabolic process cytoplasm|nucleus|ubiquitin ligase complex central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(4)|prostate(3)|skin(2) 18 all_cancers(76;1.56e-06)|Acute lymphoblastic leukemia(125;4.93e-10)|all_hematologic(75;3.55e-07)|all_epithelial(107;0.00893)|Colorectal(196;0.069)|Lung NSC(302;0.197) BRCA - Breast invasive adenocarcinoma(108;0.0413) CAATGTGGTTGAAAGCTTGAG 0.368000 12 83 0 0 1 0 0 BAGE2 85319 broad.mit.edu 37 21 11058353 11058353 + RNA SNP T T C rs79433933 by1000genomes TCGA-E7-A97P-01A-11D-A38G-08 TCGA-E7-A97P-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18b5c355-e247-4694-9d46-770aa838190c 22cf4b93-69d7-44aa-a47c-b2799d224f5b g.chr21:11058353T>C ENST00000470054.1 - 0 324 B melanoma antigen family, member 2 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) GAAATCTCTTTATAAAACCTT 0.343000 9 87 0 0 1 0 0 BICC1 80114 broad.mit.edu 37 10 60549576 60549576 + Silent SNP C C T TCGA-E7-A97P-01A-11D-A38G-08 TCGA-E7-A97P-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18b5c355-e247-4694-9d46-770aa838190c 22cf4b93-69d7-44aa-a47c-b2799d224f5b g.chr10:60549576C>T ENST00000373886.3 + 8 934 c.930C>T c.(928-930)atC>atT p.I310I NM_001080512.1 NP_001073981.1 Q9H694 BICC1_HUMAN bicaudal C homolog 1 (Drosophila) 310 KH 2. multicellular organismal development RNA binding breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1) 44 TCAAACATATCATGCAGAGAA 0.453000 41 129 0 0 1 0 0 POU2AF1 5450 broad.mit.edu 37 11 111228351 111228351 + Missense_Mutation SNP G G A TCGA-E7-A97P-01A-11D-A38G-08 TCGA-E7-A97P-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18b5c355-e247-4694-9d46-770aa838190c 22cf4b93-69d7-44aa-a47c-b2799d224f5b g.chr11:111228351G>A ENST00000393067.3 - 4 789 c.275C>T c.(274-276)aCc>aTc p.T92I NM_006235.2 NP_006226.2 Q16633 OBF1_HUMAN POU class 2 associating factor 1 92 humoral immune response|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter nucleus protein binding|transcription coactivator activity breast(1)|kidney(2)|lung(2) 5 all_cancers(61;1.36e-12)|all_epithelial(67;1.87e-07)|Melanoma(852;1.46e-05)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|all_neural(223;0.0146)|Medulloblastoma(222;0.0245)|Breast(348;0.0389) Epithelial(105;1.01e-06)|BRCA - Breast invasive adenocarcinoma(274;3.12e-06)|all cancers(92;1.8e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0364) GGTGGCCGGGGTGGGCTGGGA 0.617000 T BCL6 NHL 13 32 0 0 1 0 0 FER1L6 654463 broad.mit.edu 37 8 124992721 124992721 + Missense_Mutation SNP T T A TCGA-E7-A97P-01A-11D-A38G-08 TCGA-E7-A97P-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18b5c355-e247-4694-9d46-770aa838190c 22cf4b93-69d7-44aa-a47c-b2799d224f5b g.chr8:124992721T>A ENST00000522917.1 + 11 1286 c.1080T>A c.(1078-1080)ttT>ttA p.F360L FER1L6_ENST00000399018.1_Missense_Mutation_p.F360L NM_001039112.2 NP_001034201.2 Q2WGJ9 FR1L6_HUMAN fer-1-like 6 (C. elegans) 360 integral to membrane NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1) 118 Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741) STAD - Stomach adenocarcinoma(47;0.00186) TGCCCACCTTTGGGCCTGCCT 0.438000 OREG0018964 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 36 67 0 0 1 0 0 JAKMIP1 152789 broad.mit.edu 37 4 6107452 6107452 + Silent SNP C C T TCGA-E7-A97P-01A-11D-A38G-08 TCGA-E7-A97P-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18b5c355-e247-4694-9d46-770aa838190c 22cf4b93-69d7-44aa-a47c-b2799d224f5b g.chr4:6107452C>T ENST00000409021.3 - 3 821 c.372G>A c.(370-372)gcG>gcA p.A124A JAKMIP1_ENST00000409371.3_Intron|JAKMIP1_ENST00000457227.2_Intron|JAKMIP1_ENST00000282924.5_Silent_p.A124A|JAKMIP1_ENST00000409831.1_Silent_p.A124A|JAKMIP1_ENST00000410077.2_Intron NM_001099433.1 NP_001092903.1 Q96N16 JKIP1_HUMAN janus kinase and microtubule interacting protein 1 124 Mediates association with microtubules. protein transport cytoplasm|membrane|microtubule|peripheral to membrane of membrane fraction|ribonucleoprotein complex GABA receptor binding|RNA binding NS(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 42 CCTTGTCGGCCGCGCCGTCGC 0.716000 8 8 0 0 1 0 0 TTC30B 150737 broad.mit.edu 37 2 178415703 178415703 + Missense_Mutation SNP T T C TCGA-E7-A97P-01A-11D-A38G-08 TCGA-E7-A97P-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18b5c355-e247-4694-9d46-770aa838190c 22cf4b93-69d7-44aa-a47c-b2799d224f5b g.chr2:178415703T>C ENST00000408939.3 - 1 2039 c.1789A>G c.(1789-1791)Atg>Gtg p.M597V NM_152517.2 NP_689730.2 Q8N4P2 TT30B_HUMAN tetratricopeptide repeat domain 30B cell projection organization cilium binding cervix(1)|endometrium(1)|kidney(4)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|urinary_tract(1) 23 OV - Ovarian serous cystadenocarcinoma(117;0.00151)|Epithelial(96;0.00931)|all cancers(119;0.0362) TGTTTTGACATGTTTTCTAAC 0.383000 25 129 0 0 1 0 0 MYBPC1 4604 broad.mit.edu 37 12 102040609 102040609 + Missense_Mutation SNP C C T TCGA-E7-A97P-01A-11D-A38G-08 TCGA-E7-A97P-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18b5c355-e247-4694-9d46-770aa838190c 22cf4b93-69d7-44aa-a47c-b2799d224f5b g.chr12:102040609C>T ENST00000549145.1 + 12 1098 c.998C>T c.(997-999)tCa>tTa p.S333L MYBPC1_ENST00000550270.1_Missense_Mutation_p.S320L|RP11-755O11.2_ENST00000552081.1_RNA|MYBPC1_ENST00000361466.2_Missense_Mutation_p.S345L|RP11-755O11.2_ENST00000547027.1_RNA|MYBPC1_ENST00000541119.1_Missense_Mutation_p.S308L|MYBPC1_ENST00000452455.2_Missense_Mutation_p.S320L|MYBPC1_ENST00000536007.1_Missense_Mutation_p.S301L|MYBPC1_ENST00000547405.1_Missense_Mutation_p.S294L|MYBPC1_ENST00000547509.1_Missense_Mutation_p.S306L|MYBPC1_ENST00000361685.2_Missense_Mutation_p.S345L|MYBPC1_ENST00000550501.1_Intron|MYBPC1_ENST00000392934.3_Missense_Mutation_p.S307L|MYBPC1_ENST00000545503.2_Missense_Mutation_p.S320L|MYBPC1_ENST00000553190.1_Missense_Mutation_p.S320L|MYBPC1_ENST00000551300.1_Missense_Mutation_p.S221L|MYBPC1_ENST00000360610.2_Missense_Mutation_p.S320L|MYBPC1_ENST00000441232.1_Missense_Mutation_p.S320L Q00872 MYPC1_HUMAN myosin binding protein C, slow type 320 Ig-like C2-type 2. cell adhesion|muscle filament sliding cytosol|myofibril|myosin filament actin binding|structural constituent of muscle|titin binding breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2) 57 ACAGATGATTCAGAGTATTAT 0.388000 12 57 0 0 1 0 0 ZNF618 114991 broad.mit.edu 37 9 116812148 116812148 + Missense_Mutation SNP G G T TCGA-E7-A97P-01A-11D-A38G-08 TCGA-E7-A97P-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18b5c355-e247-4694-9d46-770aa838190c 22cf4b93-69d7-44aa-a47c-b2799d224f5b g.chr9:116812148G>T ENST00000288466.7 + 14 2386 c.2287G>T c.(2287-2289)Gct>Tct p.A763S ZNF618_ENST00000374126.5_Missense_Mutation_p.A856S|ZNF618_ENST00000470105.1_3'UTR NM_133374.2 NP_588615.2 Q5T7W0 ZN618_HUMAN zinc finger protein 618 856 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(4)|lung(10)|urinary_tract(1) 16 GCCCCGCTCTGCTGCCGTCGA 0.597000 48 55 1.27334e-21 1.48556e-21 1 1 0 PDZD2 23037 broad.mit.edu 37 5 32093105 32093105 + Missense_Mutation SNP T T C TCGA-E7-A97P-01A-11D-A38G-08 TCGA-E7-A97P-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18b5c355-e247-4694-9d46-770aa838190c 22cf4b93-69d7-44aa-a47c-b2799d224f5b g.chr5:32093105T>C ENST00000438447.1 + 21 8208 c.7820T>C c.(7819-7821)aTt>aCt p.I2607T PDZD2_ENST00000282493.3_Missense_Mutation_p.I2607T O15018 PDZD2_HUMAN PDZ domain containing 2 2607 cell adhesion cell-cell junction|endoplasmic reticulum|extracellular region|nucleus NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 148 CTAACTCTCATTCAGGAAGCG 0.478000 OREG0016544 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 18 50 0 0 1 0 0 REM1 28954 broad.mit.edu 37 20 30070208 30070208 + Missense_Mutation SNP G G A TCGA-E7-A97P-01A-11D-A38G-08 TCGA-E7-A97P-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18b5c355-e247-4694-9d46-770aa838190c 22cf4b93-69d7-44aa-a47c-b2799d224f5b g.chr20:30070208G>A ENST00000201979.2 + 4 835 c.542G>A c.(541-543)cGc>cAc p.R181H NM_014012.4 NP_054731.2 O75628 REM1_HUMAN RAS (RAD and GEM)-like GTP-binding 1 181 small GTPase mediated signal transduction membrane calmodulin binding|GTP binding|GTPase activity kidney(3)|large_intestine(3)|lung(14)|pancreas(2)|upper_aerodigestive_tract(1) 23 all_cancers(5;0.000119)|Lung NSC(7;1.32e-05)|all_lung(7;2.14e-05)|all_hematologic(12;0.158)|Ovarian(7;0.198) Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347) CAGCTGCGGCGCACACATCAG 0.607000 12 44 0 0 1 0 0 CNOT3 4849 broad.mit.edu 37 19 54647986 54647986 + Missense_Mutation SNP C C T rs138688054 byFrequency TCGA-E7-A97P-01A-11D-A38G-08 TCGA-E7-A97P-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18b5c355-e247-4694-9d46-770aa838190c 22cf4b93-69d7-44aa-a47c-b2799d224f5b g.chr19:54647986C>T ENST00000406403.1 + 6 2004 c.401C>T c.(400-402)aCg>aTg p.T134M CNOT3_ENST00000221232.5_Missense_Mutation_p.T134M|CNOT3_ENST00000358389.3_5'UTR O75175 CNOT3_HUMAN CCR4-NOT transcription complex, subunit 3 134 nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasmic mRNA processing body|cytosol|nucleus protein binding endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(3)|prostate(7)|urinary_tract(3) 28 all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19) ACCATCGACACGCTCAACATG 0.562000 3 31 0 0 1 0 0 TOMM40 10452 broad.mit.edu 37 19 45396118 45396118 + Missense_Mutation SNP A A C TCGA-E7-A97P-01A-11D-A38G-08 TCGA-E7-A97P-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18b5c355-e247-4694-9d46-770aa838190c 22cf4b93-69d7-44aa-a47c-b2799d224f5b g.chr19:45396118A>C ENST00000592434.1 + 4 460 c.367A>C c.(367-369)Aca>Cca p.T123P TOMM40_ENST00000426677.2_Missense_Mutation_p.T123P|TOMM40_ENST00000252487.5_Missense_Mutation_p.T123P|TOMM40_ENST00000405636.2_Missense_Mutation_p.T123P O96008 TOM40_HUMAN translocase of outer mitochondrial membrane 40 homolog (yeast) 123 protein targeting to mitochondrion integral to membrane of membrane fraction|integral to mitochondrial outer membrane|mitochondrial outer membrane translocase complex|pore complex porin activity|protein transmembrane transporter activity|voltage-gated anion channel activity breast(1)|haematopoietic_and_lymphoid_tissue(1)|lung(2)|ovary(1) 5 Lung NSC(12;0.0018)|all_lung(12;0.00481) OV - Ovarian serous cystadenocarcinoma(262;0.0033)|Epithelial(262;0.176) AGCCCTCAGCACAATCGGGGA 0.522000 5 21 0 0 1 0 0 RPS24 6229 broad.mit.edu 37 10 79795399 79795399 + Missense_Mutation SNP G G T TCGA-E7-A97P-01A-11D-A38G-08 TCGA-E7-A97P-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18b5c355-e247-4694-9d46-770aa838190c 22cf4b93-69d7-44aa-a47c-b2799d224f5b g.chr10:79795399G>T ENST00000440692.1 + 3 342 c.200G>T c.(199-201)gGc>gTc p.G67V RPS24_ENST00000372360.3_Missense_Mutation_p.G67V|RPS24_ENST00000476545.1_3'UTR|RPS24_ENST00000360830.4_Missense_Mutation_p.G67V|RPS24_ENST00000435275.1_Missense_Mutation_p.G67V NM_001142285.1 NP_001135757.1 P62847 RS24_HUMAN ribosomal protein S24 67 endocrine pancreas development|erythrocyte homeostasis|maturation of SSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|translational elongation|translational termination|viral transcription cytosolic small ribosomal subunit|nucleolus nucleotide binding|structural constituent of ribosome|translation initiation factor binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|ovary(2)|skin(1) 5 all_cancers(46;0.0343)|all_epithelial(25;0.000959)|Breast(12;0.00113)|Prostate(51;0.0095) Epithelial(14;0.00128)|OV - Ovarian serous cystadenocarcinoma(4;0.00248)|all cancers(16;0.00428) TTTGGTGGTGGCAAGACAACT 0.393000 4 96 0.000602214 0.00061727 1 1 0 ACACA 31 broad.mit.edu 37 17 35548097 35548097 + Silent SNP G G C TCGA-E7-A97P-01A-11D-A38G-08 TCGA-E7-A97P-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18b5c355-e247-4694-9d46-770aa838190c 22cf4b93-69d7-44aa-a47c-b2799d224f5b g.chr17:35548097G>C ENST00000353139.5 - 38 5017 c.4536C>G c.(4534-4536)ctC>ctG p.L1512L ACACA_ENST00000360679.3_Silent_p.L1417L|ACACA_ENST00000335166.5_Silent_p.L1397L|ACACA_ENST00000394406.2_Silent_p.L1475L NM_198834.1|NM_198839.1 NP_942131.1|NP_942136.1 Q13085 ACACA_HUMAN acetyl-CoA carboxylase alpha 1475 acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process cytosol acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 83 Breast(25;0.00157)|Ovarian(249;0.15) Biotin(DB00121) GCACAAAGTTGAGGAAGATGT 0.448000 8 27 0 0 1 0 0 DPY19L3 147991 broad.mit.edu 37 19 32902322 32902322 + Missense_Mutation SNP C C G TCGA-E7-A97P-01A-11D-A38G-08 TCGA-E7-A97P-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18b5c355-e247-4694-9d46-770aa838190c 22cf4b93-69d7-44aa-a47c-b2799d224f5b g.chr19:32902322C>G ENST00000587077.2 + 3 685 c.281C>G c.(280-282)tCt>tGt p.S94C DPY19L3_ENST00000342179.5_Intron|DPY19L3_ENST00000392250.2_Intron|DPY19L3_ENST00000586987.1_Intron Q6ZPD9 D19L3_HUMAN dpy-19-like 3 (C. elegans) integral to membrane breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(17)|ovary(4)|pancreas(1) 32 Esophageal squamous(110;0.162) TCAGTGGGATCTCCAGTAGTA 0.368000 9 47 0 0 1 0 0 SFSWAP 6433 broad.mit.edu 37 12 132239971 132239971 + Missense_Mutation SNP T T C TCGA-E7-A97P-01A-11D-A38G-08 TCGA-E7-A97P-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18b5c355-e247-4694-9d46-770aa838190c 22cf4b93-69d7-44aa-a47c-b2799d224f5b g.chr12:132239971T>C ENST00000261674.4 + 10 1636 c.1495T>C c.(1495-1497)Tat>Cat p.Y499H SFSWAP_ENST00000541286.1_Missense_Mutation_p.Y499H NM_004592.3 NP_004583.2 Q12872 SFSWA_HUMAN splicing factor, suppressor of white-apricot homolog (Drosophila) 499 mRNA splice site selection|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding|RNA binding endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(8)|ovary(1)|skin(2) 25 TAATGCTTATTATGAGTTTAA 0.458000 OREG0022261 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 17 47 0 0 1 0 0 MYCBP2 23077 broad.mit.edu 37 13 77642913 77642913 + Silent SNP T T C TCGA-E7-A97P-01A-11D-A38G-08 TCGA-E7-A97P-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18b5c355-e247-4694-9d46-770aa838190c 22cf4b93-69d7-44aa-a47c-b2799d224f5b g.chr13:77642913T>C ENST00000407578.2 - 70 12224 c.11958A>G c.(11956-11958)gaA>gaG p.E3986E MYCBP2_ENST00000544440.2_Silent_p.E3948E|MYCBP2_ENST00000357337.6_Silent_p.E3948E NM_015057.4 NP_055872.4 O75592 MYCB2_HUMAN MYC binding protein 2, E3 ubiquitin protein ligase 3948 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ligase activity|protein binding|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 118 Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22) GBM - Glioblastoma multiforme(99;0.109) GTTCCCATTCTTCACGGACTC 0.408000 18 54 0 0 1 0 0 RILPL1 353116 broad.mit.edu 37 12 124008081 124008081 + Missense_Mutation SNP C C A TCGA-E7-A97P-01A-11D-A38G-08 TCGA-E7-A97P-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18b5c355-e247-4694-9d46-770aa838190c 22cf4b93-69d7-44aa-a47c-b2799d224f5b g.chr12:124008081C>A ENST00000376874.4 - 2 656 c.421G>T c.(421-423)Gat>Tat p.D141Y NM_178314.3 NP_847884.2 Q5EBL4 RIPL1_HUMAN Rab interacting lysosomal protein-like 1 141 neuroprotection cytosol endometrium(1)|kidney(2)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1) 7 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000224)|Epithelial(86;0.00067)|all cancers(50;0.00836)|BRCA - Breast invasive adenocarcinoma(302;0.197) AAATTGACATCCTTGTGGGAG 0.582000 22 80 3.28513e-13 3.7563e-13 1 1 0 TSSC2 650368 broad.mit.edu 37 11 3427845 3427845 + RNA SNP C C T TCGA-E7-A97P-01A-11D-A38G-08 TCGA-E7-A97P-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18b5c355-e247-4694-9d46-770aa838190c 22cf4b93-69d7-44aa-a47c-b2799d224f5b g.chr11:3427845C>T ENST00000529482.1 + 0 962 CTTCAAGTGGCAGGAGCAGAA 0.587000 4 32 0 0 1 0 0 DOCK11 139818 broad.mit.edu 37 X 117770339 117770339 + Missense_Mutation SNP C C T TCGA-E7-A97P-01A-11D-A38G-08 TCGA-E7-A97P-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18b5c355-e247-4694-9d46-770aa838190c 22cf4b93-69d7-44aa-a47c-b2799d224f5b g.chrX:117770339C>T ENST00000276204.6 + 36 3991 c.3917C>T c.(3916-3918)tCa>tTa p.S1306L DOCK11_ENST00000276202.7_Missense_Mutation_p.S1306L Q5JSL3 DOC11_HUMAN dedicator of cytokinesis 11 1306 blood coagulation cytosol GTP binding breast(4)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(17)|liver(1)|lung(35)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1) 84 AATAAAGTATCACCTCAGGAG 0.303000 19 32 0 0 1 0 0 ZNF781 163115 broad.mit.edu 37 19 38160606 38160606 + Missense_Mutation SNP C C G TCGA-E7-A97P-01A-11D-A38G-08 TCGA-E7-A97P-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18b5c355-e247-4694-9d46-770aa838190c 22cf4b93-69d7-44aa-a47c-b2799d224f5b g.chr19:38160606C>G ENST00000358582.4 - 4 1192 c.444G>C c.(442-444)caG>caC p.Q148H ZNF781_ENST00000590008.1_Missense_Mutation_p.Q148H|ZFP30_ENST00000586732.1_Intron NM_152605.3 NP_689818.2 Q8N8C0 ZN781_HUMAN zinc finger protein 781 148 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(2)|large_intestine(5)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 24 TTCCCACATTCTGTACATTCG 0.378000 4 103 0 0 1 0 0 NR1D2 9975 broad.mit.edu 37 3 24018906 24018906 + Missense_Mutation SNP C C G TCGA-E7-A97P-01A-11D-A38G-08 TCGA-E7-A97P-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18b5c355-e247-4694-9d46-770aa838190c 22cf4b93-69d7-44aa-a47c-b2799d224f5b g.chr3:24018906C>G ENST00000312521.4 + 8 2055 c.1736C>G c.(1735-1737)cCt>cGt p.P579R NR1D2_ENST00000492552.1_3'UTR NM_001145425.1|NM_005126.4 NP_001138897.1|NP_005117 Q14995 NR1D2_HUMAN nuclear receptor subfamily 1, group D, member 2 579 regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm sequence-specific DNA binding|steroid hormone receptor activity|zinc ion binding NS(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2) 22 AAAGTTCACCCTTAAGGCCTT 0.348000 17 51 0 0 1 0 0 TM4SF20 79853 broad.mit.edu 37 2 228228662 228228662 + Silent SNP A A T TCGA-E7-A97P-01A-11D-A38G-08 TCGA-E7-A97P-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18b5c355-e247-4694-9d46-770aa838190c 22cf4b93-69d7-44aa-a47c-b2799d224f5b g.chr2:228228662A>T ENST00000304568.3 - 4 505 c.468T>A c.(466-468)ggT>ggA p.G156G NM_024795.3 NP_079071.2 Q53R12 T4S20_HUMAN transmembrane 4 L six family member 20 156 integral to membrane|plasma membrane breast(1)|kidney(2)|large_intestine(1)|lung(4)|stomach(2) 10 Renal(207;0.025)|all_lung(227;0.123)|Esophageal squamous(248;0.23)|all_hematologic(139;0.248) Epithelial(121;3.8e-11)|all cancers(144;2.57e-08)|Lung(261;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.0115) GTTTATTGAAACCAGTAGGAG 0.403000 20 56 0 0 1 0 0 SORT1 6272 broad.mit.edu 37 1 109888389 109888389 + Missense_Mutation SNP G G T TCGA-E7-A97P-01A-11D-A38G-08 TCGA-E7-A97P-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18b5c355-e247-4694-9d46-770aa838190c 22cf4b93-69d7-44aa-a47c-b2799d224f5b g.chr1:109888389G>T ENST00000256637.6 - 8 1005 c.947C>A c.(946-948)tCt>tAt p.S316Y SORT1_ENST00000538502.1_Missense_Mutation_p.S179Y NM_002959.5 NP_002950.3 Q99523 SORT_HUMAN sortilin 1 316 endocytosis|endosome to lysosome transport|endosome transport via multivesicular body sorting pathway|glucose import|Golgi to endosome transport|induction of apoptosis by extracellular signals|myotube differentiation|negative regulation of apoptosis|negative regulation of lipoprotein lipase activity|neuropeptide signaling pathway|ossification|plasma membrane to endosome transport|regulation of gene expression|response to insulin stimulus|vesicle organization cell surface|coated pit|early endosome|endoplasmic reticulum membrane|endosome membrane|Golgi cisterna membrane|integral to membrane|lysosomal membrane|microsome|nuclear membrane|perinuclear region of cytoplasm|plasma membrane enzyme binding|nerve growth factor binding|nerve growth factor receptor activity|neurotensin receptor activity, non-G-protein coupled NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(5)|ovary(2)|prostate(1)|skin(1) 26 all_epithelial(167;4.69e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244) Lung(183;0.0529)|Colorectal(144;0.142)|Epithelial(280;0.145)|Kidney(133;0.169)|all cancers(265;0.184) AGCCATCACAGAGGCAAAAAG 0.413000 5 116 0.00116845 0.00119339 1 1 0 HS3ST3A1 9955 broad.mit.edu 37 17 13503916 13503916 + Silent SNP G G A TCGA-E7-A97P-01A-11D-A38G-08 TCGA-E7-A97P-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18b5c355-e247-4694-9d46-770aa838190c 22cf4b93-69d7-44aa-a47c-b2799d224f5b g.chr17:13503916G>A ENST00000284110.1 - 1 1328 c.531C>T c.(529-531)gaC>gaT p.D177D NM_006042.1 NP_006033.1 Q9Y663 HS3SA_HUMAN heparan sulfate (glucosamine) 3-O-sulfotransferase 3A1 177 Golgi membrane|integral to membrane [heparan sulfate]-glucosamine 3-sulfotransferase 3 activity central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 16 all_lung(20;0.114) UCEC - Uterine corpus endometrioid carcinoma (92;0.101) CGGCGCGCACGTCGGGGTGCA 0.711000 5 11 0 0 1 0 0 SLC35C2 51006 broad.mit.edu 37 20 44983600 44983600 + Silent SNP G G T TCGA-E7-A97P-01A-11D-A38G-08 TCGA-E7-A97P-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18b5c355-e247-4694-9d46-770aa838190c 22cf4b93-69d7-44aa-a47c-b2799d224f5b g.chr20:44983600G>T ENST00000372227.1 - 7 1122 c.582C>A c.(580-582)ctC>ctA p.L194L SLC35C2_ENST00000243896.2_Silent_p.L194L|SLC35C2_ENST00000372230.5_Silent_p.L194L|SLC35C2_ENST00000317734.8_Silent_p.L173L|SLC35C2_ENST00000372229.1_Silent_p.L61L|SLC35C2_ENST00000543605.1_Silent_p.L223L NM_001281458.1|NM_001281460.1 NP_001268387.1|NP_001268389.1 Q9NQQ7 S35C2_HUMAN solute carrier family 35 (GDP-fucose transporter), member C2 194 transport integral to membrane cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(2)|prostate(1) 16 Myeloproliferative disorder(115;0.0122) TGGGATTCTGGAGGCCTGCAG 0.627000 8 33 5.18039e-06 5.54766e-06 1 1 0 SRSF11 9295 broad.mit.edu 37 1 70687346 70687346 + Missense_Mutation SNP C C A TCGA-E7-A97P-01A-11D-A38G-08 TCGA-E7-A97P-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18b5c355-e247-4694-9d46-770aa838190c 22cf4b93-69d7-44aa-a47c-b2799d224f5b g.chr1:70687346C>A ENST00000370950.3 + 2 109 c.27C>A c.(25-27)agC>agA p.S9R SRSF11_ENST00000370951.1_Missense_Mutation_p.S9R|SRSF11_ENST00000405432.1_Missense_Mutation_p.S9R|SRSF11_ENST00000436161.2_Missense_Mutation_p.S9R|SRSF11_ENST00000454435.2_Missense_Mutation_p.S9R Q05519 SRS11_HUMAN serine/arginine-rich splicing factor 11 9 mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription nucleoplasm nucleotide binding|protein binding|RNA binding large_intestine(3)|ovary(2)|skin(1) 6 TCGTCCCCAGCACTGCAGGTC 0.642000 8 85 2.94398e-08 3.2249e-08 1 1 0 LY75 4065 broad.mit.edu 37 2 160737661 160737661 + Missense_Mutation SNP T T C TCGA-E7-A97P-01A-11D-A38G-08 TCGA-E7-A97P-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18b5c355-e247-4694-9d46-770aa838190c 22cf4b93-69d7-44aa-a47c-b2799d224f5b g.chr2:160737661T>C ENST00000263636.4 - 8 1364 c.1337A>G c.(1336-1338)tAt>tGt p.Y446C LY75_ENST00000553424.1_Missense_Mutation_p.Y446C|LY75-CD302_ENST00000504764.1_Missense_Mutation_p.Y446C|LY75_ENST00000554112.1_Missense_Mutation_p.Y446C|LY75-CD302_ENST00000505052.1_Missense_Mutation_p.Y446C NM_002349.3 NP_002340.2 lymphocyte antigen 75 NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(22)|prostate(7)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 59 COAD - Colon adenocarcinoma(177;0.132) CTCATCCCAATATGTTAGAGT 0.373000 12 80 0 0 1 0 0 MAP2 4133 broad.mit.edu 37 2 210557962 210557962 + Silent SNP C C A TCGA-E7-A97P-01A-11D-A38G-08 TCGA-E7-A97P-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18b5c355-e247-4694-9d46-770aa838190c 22cf4b93-69d7-44aa-a47c-b2799d224f5b g.chr2:210557962C>A ENST00000360351.4 + 7 1574 c.1068C>A c.(1066-1068)acC>acA p.T356T MAP2_ENST00000392194.1_Intron|MAP2_ENST00000199940.6_Intron|MAP2_ENST00000447185.1_Silent_p.T352T|MAP2_ENST00000361559.4_Intron NM_002374.3 NP_002365.3 P11137 MAP2_HUMAN microtubule-associated protein 2 356 central nervous system neuron development|dendrite morphogenesis|negative regulation of microtubule depolymerization cytoplasm|microtubule|microtubule associated complex beta-dystroglycan binding|calmodulin binding|structural molecule activity breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1) 124 Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202) UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18) Estramustine(DB01196) TGCAACAAACCAGTGGCCCAG 0.443000 7 52 0.0381472 0.0381472 1 1 0 MYT1 4661 broad.mit.edu 37 20 62850369 62850369 + Missense_Mutation SNP C C T TCGA-E7-A97P-01A-11D-A38G-08 TCGA-E7-A97P-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18b5c355-e247-4694-9d46-770aa838190c 22cf4b93-69d7-44aa-a47c-b2799d224f5b g.chr20:62850369C>T ENST00000536311.1 + 12 2397 c.2033C>T c.(2032-2034)cCa>cTa p.P678L MYT1_ENST00000360149.4_Missense_Mutation_p.P353L|MYT1_ENST00000328439.1_Missense_Mutation_p.P651L Q01538 MYT1_HUMAN myelin transcription factor 1 651 cell differentiation|nervous system development nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(12)|liver(1)|lung(17)|ovary(5)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 55 all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09) AGCACGAAGCCACAGGACCTC 0.592000 13 29 0 0 1 0 0 TGFBR1 7046 broad.mit.edu 37 9 101908834 101908834 + Missense_Mutation SNP G G T TCGA-E7-A97P-01A-11D-A38G-08 TCGA-E7-A97P-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18b5c355-e247-4694-9d46-770aa838190c 22cf4b93-69d7-44aa-a47c-b2799d224f5b g.chr9:101908834G>T ENST00000374994.4 + 7 1315 c.1198G>T c.(1198-1200)Gac>Tac p.D400Y TGFBR1_ENST00000374990.2_Missense_Mutation_p.D323Y|TGFBR1_ENST00000550253.1_Missense_Mutation_p.D331Y|TGFBR1_ENST00000552516.1_Missense_Mutation_p.D404Y NM_004612.2 NP_004603.1 P36897 TGFR1_HUMAN transforming growth factor, beta receptor 1 400 Protein kinase. D -> G (in LDS1A). activation of MAPKK activity|anterior/posterior pattern formation|artery morphogenesis|collagen fibril organization|embryonic cranial skeleton morphogenesis|germ cell migration|heart development|kidney development|neuron fate commitment|palate development|parathyroid gland development|pathway-restricted SMAD protein phosphorylation|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|pharyngeal system development|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of cellular component movement|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of SMAD protein import into nucleus|positive regulation of survival gene product expression|positive regulation of transcription, DNA-dependent|response to cholesterol|thymus development|transforming growth factor beta receptor signaling pathway ATP binding|I-SMAD binding|metal ion binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type I|type II transforming growth factor beta receptor binding endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|liver(1)|lung(7)|ovary(1)|prostate(1)|skin(1) 27 Acute lymphoblastic leukemia(62;0.0559) CAAACGTGCTGACATCTATGC 0.388000 69 112 1.15062e-32 1.35896e-32 1 1 0 C1orf109 54955 broad.mit.edu 37 1 38149079 38149079 + Silent SNP A A G TCGA-E7-A97P-01A-11D-A38G-08 TCGA-E7-A97P-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18b5c355-e247-4694-9d46-770aa838190c 22cf4b93-69d7-44aa-a47c-b2799d224f5b g.chr1:38149079A>G ENST00000358011.4 - 4 675 c.486T>C c.(484-486)tcT>tcC p.S162S C1orf109_ENST00000609516.1_5'UTR|C1orf109_ENST00000464085.1_Silent_p.S162S NM_017850.1 NP_060320.1 Q9NX04 CA109_HUMAN chromosome 1 open reading frame 109 162 lung(2)|prostate(2) 4 Myeloproliferative disorder(586;0.0393) CCCACTGGATAGACGAAAGAA 0.433000 15 67 0 0 1 0 0 MLX 6945 broad.mit.edu 37 17 40722064 40722064 + Missense_Mutation SNP G G C TCGA-E7-A97P-01A-11D-A38G-08 TCGA-E7-A97P-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18b5c355-e247-4694-9d46-770aa838190c 22cf4b93-69d7-44aa-a47c-b2799d224f5b g.chr17:40722064G>C ENST00000246912.4 + 7 756 c.703G>C c.(703-705)Gac>Cac p.D235H MLX_ENST00000435881.2_Missense_Mutation_p.D181H|MLX_ENST00000346833.4_Missense_Mutation_p.D151H NM_170607.2 NP_733752.1 Q9UH92 MLX_HUMAN MLX, MAX dimerization protein 235 energy reserve metabolic process|negative regulation of transcription, DNA-dependent|positive regulation of cellular metabolic process cytoplasm|nucleus DNA binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding kidney(3)|large_intestine(4)|lung(1)|ovary(1)|urinary_tract(1) 10 all_cancers(22;4.26e-05)|Breast(137;0.000153)|all_epithelial(22;0.00148) BRCA - Breast invasive adenocarcinoma(366;0.129) CCAGGTCTCTGACCAGGTCAA 0.552000 3 53 0 0 1 0 0 KIAA2026 158358 broad.mit.edu 37 9 5921268 5921268 + Silent SNP T T C TCGA-E7-A97P-01A-11D-A38G-08 TCGA-E7-A97P-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18b5c355-e247-4694-9d46-770aa838190c 22cf4b93-69d7-44aa-a47c-b2799d224f5b g.chr9:5921268T>C ENST00000399933.3 - 8 4727 c.4728A>G c.(4726-4728)ggA>ggG p.G1576G KIAA2026_ENST00000381461.2_Silent_p.G1546G NM_001017969.2 NP_001017969.2 Q5HYC2 K2026_HUMAN KIAA2026 1576 breast(6)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(1) 46 Acute lymphoblastic leukemia(23;0.158) GBM - Glioblastoma multiforme(50;0.00155)|Lung(218;0.124) CTATGTTTAGTCCAATTTTCA 0.378000 44 61 0 0 1 0 0 SCN1B 6324 broad.mit.edu 37 19 35523483 35523483 + Missense_Mutation SNP T T C TCGA-E7-A97P-01A-11D-A38G-08 TCGA-E7-A97P-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18b5c355-e247-4694-9d46-770aa838190c 22cf4b93-69d7-44aa-a47c-b2799d224f5b g.chr19:35523483T>C ENST00000262631.5 + 2 229 c.92T>C c.(91-93)gTg>gCg p.V31A SCN1B_ENST00000595652.1_Missense_Mutation_p.V31A|SCN1B_ENST00000596348.1_3'UTR|SCN1B_ENST00000415950.3_Missense_Mutation_p.V31A NM_001037.4 NP_001028.1 Q07699 SCN1B_HUMAN sodium channel, voltage-gated, type I, beta subunit 31 Ig-like C2-type. axon guidance|synaptic transmission integral to membrane voltage-gated sodium channel activity breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|skin(3) 11 all_lung(56;2.66e-08)|Lung NSC(56;4.13e-08)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0849) ACCGAGGCCGTGTATGGGATG 0.617000 21 96 0 0 1 0 0 TEX9 374618 broad.mit.edu 37 15 56683503 56683503 + Nonsense_Mutation SNP C C G rs139609954 by1000genomes TCGA-E7-A97P-01A-11D-A38G-08 TCGA-E7-A97P-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18b5c355-e247-4694-9d46-770aa838190c 22cf4b93-69d7-44aa-a47c-b2799d224f5b g.chr15:56683503C>G ENST00000558083.2 + 6 563 c.233C>G c.(232-234)tCa>tGa p.S78* TEX9_ENST00000352903.2_Nonsense_Mutation_p.S153*|TEX9_ENST00000561221.2_Nonsense_Mutation_p.S153*|TEX9_ENST00000537232.1_Nonsense_Mutation_p.S78* Q8N6V9 TEX9_HUMAN testis expressed 9 153 cervix(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(1) 14 all cancers(107;0.0394)|GBM - Glioblastoma multiforme(80;0.056) GAGGATTTCTCAGACTTTTCC 0.323000 20 75 0 0 1 0 0 RAD54B 25788 broad.mit.edu 37 8 95412469 95412469 + Silent SNP A A G TCGA-E7-A97P-01A-11D-A38G-08 TCGA-E7-A97P-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18b5c355-e247-4694-9d46-770aa838190c 22cf4b93-69d7-44aa-a47c-b2799d224f5b g.chr8:95412469A>G ENST00000336148.5 - 7 1291 c.1167T>C c.(1165-1167)gaT>gaC p.D389D NM_012415.3 NP_036547.1 O95073 FSBP_HUMAN RAD54 homolog B (S. cerevisiae) 0 double-strand break repair via homologous recombination|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA translocase activity|protein binding breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(10)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 39 Breast(36;4.5e-05) BRCA - Breast invasive adenocarcinoma(8;0.00217) TTCTTACCTGATCAACAGTAA 0.313000 Direct reversal of damage;Homologous recombination 11 31 0 0 1 0 0 ACSL4 2182 broad.mit.edu 37 X 108926500 108926500 + Silent SNP G G A TCGA-E7-A97P-01A-11D-A38G-08 TCGA-E7-A97P-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18b5c355-e247-4694-9d46-770aa838190c 22cf4b93-69d7-44aa-a47c-b2799d224f5b g.chrX:108926500G>A ENST00000340800.2 - 4 720 c.216C>T c.(214-216)gaC>gaT p.D72D ACSL4_ENST00000469796.2_Silent_p.D72D|ACSL4_ENST00000348502.6_Silent_p.D31D NM_022977.2 NP_075266.1 O60488 ACSL4_HUMAN acyl-CoA synthetase long-chain family member 4 72 fatty acid metabolic process|learning or memory|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane ATP binding|long-chain fatty acid-CoA ligase activity breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(6)|ovary(2) 22 Icosapent(DB00159)|Troglitazone(DB00197) CTCCAGGGATGTCTATTACAG 0.438000 43 63 0 0 1 0 0 NDUFAF7 55471 broad.mit.edu 37 2 37475333 37475333 + Missense_Mutation SNP A A G TCGA-E7-A97P-01A-11D-A38G-08 TCGA-E7-A97P-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18b5c355-e247-4694-9d46-770aa838190c 22cf4b93-69d7-44aa-a47c-b2799d224f5b g.chr2:37475333A>G ENST00000002125.4 + 10 1206 c.1166A>G c.(1165-1167)tAt>tGt p.Y389C NDUFAF7_ENST00000336237.6_Missense_Mutation_p.Y291C NM_144736.4 NP_653337.1 NADH dehydrogenase (ubiquinone) complex I, assembly factor 7 CTTCAAGGATATGATATGTTA 0.358000 11 45 0 0 1 0 0 PHLDA3 23612 broad.mit.edu 37 1 201437599 201437599 + Nonsense_Mutation SNP T T A TCGA-E7-A97P-01A-11D-A38G-08 TCGA-E7-A97P-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18b5c355-e247-4694-9d46-770aa838190c 22cf4b93-69d7-44aa-a47c-b2799d224f5b g.chr1:201437599T>A ENST00000367311.3 - 1 713 c.316A>T c.(316-318)Aag>Tag p.K106* PHLDA3_ENST00000485436.1_5'UTR|PHLDA3_ENST00000367309.1_Nonsense_Mutation_p.K106* NM_012396.3 NP_036528.1 Q9Y5J5 PHLA3_HUMAN pleckstrin homology-like domain, family A, member 3 106 PH. anatomical structure morphogenesis|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|negative regulation of protein kinase B signaling cascade cytoplasm|intracellular membrane-bounded organelle|plasma membrane identical protein binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylinositol-5-phosphate binding lung(1)|prostate(1) 2 TGCTGGTTCTTGAACTTGACC 0.642000 21 78 0 0 1 0 0 A4GALT 53947 broad.mit.edu 37 22 43089097 43089097 + Silent SNP G G A TCGA-E7-A97P-01A-11D-A38G-08 TCGA-E7-A97P-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18b5c355-e247-4694-9d46-770aa838190c 22cf4b93-69d7-44aa-a47c-b2799d224f5b g.chr22:43089097G>A ENST00000401850.1 - 2 1350 c.861C>T c.(859-861)atC>atT p.I287I A4GALT_ENST00000381278.3_Silent_p.I287I|A4GALT_ENST00000249005.2_Silent_p.I287I Q9NPC4 A4GAT_HUMAN alpha 1,4-galactosyltransferase 287 glycosphingolipid biosynthetic process|plasma membrane organization Golgi stack|integral to Golgi membrane|membrane fraction lactosylceramide 4-alpha-galactosyltransferase activity NS(1)|central_nervous_system(2)|large_intestine(6)|skin(1)|urinary_tract(1) 11 CCTGCCAGGGGATGGGGTAGA 0.632000 3 12 0 0 1 0 0 TMF1 7110 broad.mit.edu 37 3 69087847 69087847 + Silent SNP G G A TCGA-E7-A97P-01A-11D-A38G-08 TCGA-E7-A97P-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18b5c355-e247-4694-9d46-770aa838190c 22cf4b93-69d7-44aa-a47c-b2799d224f5b g.chr3:69087847G>A ENST00000543976.1 - 8 2274 c.2028C>T c.(2026-2028)gcC>gcT p.A676A CTD-2013N24.2_ENST00000595925.1_RNA|CTD-2013N24.2_ENST00000482368.2_RNA|CTD-2013N24.2_ENST00000596523.1_RNA|TMF1_ENST00000398559.2_Silent_p.A673A|CTD-2013N24.2_ENST00000596274.1_RNA|CTD-2013N24.2_ENST00000601735.1_RNA|CTD-2013N24.2_ENST00000596732.1_RNA|CTD-2013N24.2_ENST00000598783.1_RNA|CTD-2013N24.2_ENST00000597950.1_RNA NM_007114.2 NP_009045.2 P82094 TMF1_HUMAN TATA element modulatory factor 1 673 regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter Golgi membrane|nucleus DNA binding|protein binding|transcription cofactor activity cervix(1)|kidney(1)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 22 Lung NSC(201;0.0193)|Prostate(884;0.174) BRCA - Breast invasive adenocarcinoma(55;4.48e-05)|Epithelial(33;0.000274)|LUSC - Lung squamous cell carcinoma(21;0.0123)|KIRC - Kidney renal clear cell carcinoma(39;0.211)|Kidney(39;0.247) TTGCAGCATTGGCTTTGTGAA 0.378000 32 107 0 0 1 0 0 GOLGA6L7P 728310 broad.mit.edu 37 15 29092255 29092255 + RNA SNP A A T TCGA-E7-A97P-01A-11D-A38G-08 TCGA-E7-A97P-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18b5c355-e247-4694-9d46-770aa838190c 22cf4b93-69d7-44aa-a47c-b2799d224f5b g.chr15:29092255A>T ENST00000569815.1 - 0 260 NR_047567.1 TCTCAGGGTTAGCGCCATGAT 0.547000 7 29 0 0 1 0 0 SPRY2 10253 broad.mit.edu 37 13 80911159 80911159 + Missense_Mutation SNP G G C TCGA-E7-A97P-01A-11D-A38G-08 TCGA-E7-A97P-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18b5c355-e247-4694-9d46-770aa838190c 22cf4b93-69d7-44aa-a47c-b2799d224f5b g.chr13:80911159G>C ENST00000377102.1 - 2 1659 c.682C>G c.(682-684)Cac>Gac p.H228D SPRY2_ENST00000377104.3_Missense_Mutation_p.H228D|SPRY2_ENST00000540649.1_Missense_Mutation_p.H228D O43597 SPY2_HUMAN sprouty homolog 2 (Drosophila) 228 Cys-rich.|SPR. epidermal growth factor receptor signaling pathway|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|positive regulation of ERK1 and ERK2 cascade|positive regulation of gene expression|positive regulation of peptidyl-serine phosphorylation|positive regulation of protein kinase B signaling cascade cytosol|microtubule|ruffle membrane protein serine/threonine kinase activator activity central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|ovary(1)|prostate(1) 12 Medulloblastoma(90;0.18) Acute lymphoblastic leukemia(28;0.218)|Breast(118;0.244) GBM - Glioblastoma multiforme(99;0.0318) TTAGAACAGTGATAGAAGAGA 0.498000 12 35 0 0 1 0 0 COBLL1 22837 broad.mit.edu 37 2 165551150 165551150 + Missense_Mutation SNP G G A TCGA-E7-A97P-01A-11D-A38G-08 TCGA-E7-A97P-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18b5c355-e247-4694-9d46-770aa838190c 22cf4b93-69d7-44aa-a47c-b2799d224f5b g.chr2:165551150G>A ENST00000375458.2 - 11 2973 c.2752C>T c.(2752-2754)Ccc>Tcc p.P918S COBLL1_ENST00000392717.2_Missense_Mutation_p.P994S|COBLL1_ENST00000409184.3_Missense_Mutation_p.P956S|COBLL1_ENST00000194871.6_Missense_Mutation_p.P1023S|COBLL1_ENST00000342193.4_Missense_Mutation_p.P956S NM_001278460.1|NM_001278461.1 NP_001265389.1|NP_001265390.1 Q53SF7 COBL1_HUMAN cordon-bleu WH2 repeat protein-like 1 994 central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(12)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2) 47 TTACTTAAGGGAGAAAGAGTC 0.493000 4 28 0 0 1 0 0 C15orf41 84529 broad.mit.edu 37 15 37100570 37100570 + Missense_Mutation SNP G G C TCGA-E7-A97P-01A-11D-A38G-08 TCGA-E7-A97P-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18b5c355-e247-4694-9d46-770aa838190c 22cf4b93-69d7-44aa-a47c-b2799d224f5b g.chr15:37100570G>C ENST00000566621.1 + 11 1012 c.762G>C c.(760-762)gaG>gaC p.E254D C15orf41_ENST00000338183.4_Missense_Mutation_p.E156D|C15orf41_ENST00000567389.1_Missense_Mutation_p.E156D|CSNK1A1P1_ENST00000430593.3_RNA|C15orf41_ENST00000562877.1_Missense_Mutation_p.E156D|C15orf41_ENST00000565792.1_3'UTR|C15orf41_ENST00000569302.1_Missense_Mutation_p.E260D|C15orf41_ENST00000563167.1_Missense_Mutation_p.A17P|C15orf41_ENST00000562489.1_Missense_Mutation_p.E78D|C15orf41_ENST00000437989.2_Missense_Mutation_p.E254D NM_001130010.1 NP_001123482.1 Q9Y2V0 CO041_HUMAN chromosome 15 open reading frame 41 254 protein binding kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1) 12 all_epithelial(112;3.06e-10)|Lung NSC(122;6.48e-08)|all_lung(180;8.31e-07)|Melanoma(134;0.222) all cancers(64;1.76e-19)|GBM - Glioblastoma multiforme(113;5.03e-07)|BRCA - Breast invasive adenocarcinoma(123;0.11) TTATCCAGGAGCTGGACTGCA 0.468000 13 38 0 0 1 0 0 BHLHE23 128408 broad.mit.edu 37 20 61637572 61637572 + Silent SNP G G A TCGA-E7-A97P-01A-11D-A38G-08 TCGA-E7-A97P-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18b5c355-e247-4694-9d46-770aa838190c 22cf4b93-69d7-44aa-a47c-b2799d224f5b g.chr20:61637572G>A ENST00000370346.2 - 1 815 c.507C>T c.(505-507)aaC>aaT p.N169N NM_080606.3 NP_542173 Q8NDY6 BHE23_HUMAN basic helix-loop-helix family, member e23 169 transcription, DNA-dependent nucleus DNA binding NS(1) 1 CCTGGCCCTGGTTGAGGAAGG 0.697000 6 12 0 0 1 0 0 COQ3 51805 broad.mit.edu 37 6 99819440 99819440 + Silent SNP A A G TCGA-E7-A97P-01A-11D-A38G-08 TCGA-E7-A97P-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18b5c355-e247-4694-9d46-770aa838190c 22cf4b93-69d7-44aa-a47c-b2799d224f5b g.chr6:99819440A>G ENST00000254759.3 - 6 777 c.753T>C c.(751-753)acT>acC p.T251T COQ3_ENST00000369242.1_Silent_p.T23T|COQ3_ENST00000369240.1_Silent_p.T23T NM_017421.3 NP_059117.3 Q9NZJ6 COQ3_HUMAN coenzyme Q3 methyltransferase 251 glycerol metabolic process|ubiquinone biosynthetic process mitochondrial matrix 2-polyprenyl-6-methoxy-1,4-benzoquinone methyltransferase activity|3-demethylubiquinone-9 3-O-methyltransferase activity|hexaprenyldihydroxybenzoate methyltransferase activity cervix(1)|lung(5)|upper_aerodigestive_tract(2) 8 all_cancers(76;1.24e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.00716)|Colorectal(196;0.0691)|Lung NSC(302;0.186) BRCA - Breast invasive adenocarcinoma(108;0.0625) TGTTGATTGTAGTAATGAATA 0.338000 12 48 0 0 1 0 0 C16orf62 57020 broad.mit.edu 37 16 19710913 19710913 + Silent SNP C C G TCGA-E7-A97P-01A-11D-A38G-08 TCGA-E7-A97P-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18b5c355-e247-4694-9d46-770aa838190c 22cf4b93-69d7-44aa-a47c-b2799d224f5b g.chr16:19710913C>G ENST00000438132.3 + 30 3051 c.3003C>G c.(3001-3003)ctC>ctG p.L1001L C16orf62_ENST00000448695.1_Silent_p.L762L|C16orf62_ENST00000543152.1_Silent_p.L661L|C16orf62_ENST00000417362.2_Silent_p.L819L|C16orf62_ENST00000542263.1_Silent_p.L908L|C16orf62_ENST00000251143.5_Silent_p.L912L NM_020314.5 NP_064710.4 Q7Z3J2 CP062_HUMAN chromosome 16 open reading frame 62 912 integral to membrane breast(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2) 36 TCAACCAGCTCTCCGTCAACC 0.602000 14 39 0 0 1 0 0 KHNYN 23351 broad.mit.edu 37 14 24901081 24901081 + Missense_Mutation SNP C C T TCGA-E7-A97P-01A-11D-A38G-08 TCGA-E7-A97P-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18b5c355-e247-4694-9d46-770aa838190c 22cf4b93-69d7-44aa-a47c-b2799d224f5b g.chr14:24901081C>T ENST00000251343.5 + 3 753 c.614C>T c.(613-615)gCa>gTa p.A205V KHNYN_ENST00000556842.1_Missense_Mutation_p.A205V|KHNYN_ENST00000553935.1_Missense_Mutation_p.A205V O15037 KHNYN_HUMAN KH and NYN domain containing 205 p.A205V(1) kidney(1)|large_intestine(3)|liver(1)|lung(12)|ovary(3)|pancreas(1)|prostate(3) 24 GGGCCAGGAGCACTGGCTTCT 0.647000 OREG0022627 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 14 62 0 0 1 0 0 CAMK2A 815 broad.mit.edu 37 5 149669140 149669140 + Missense_Mutation SNP C C G TCGA-E7-A97P-01A-11D-A38G-08 TCGA-E7-A97P-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18b5c355-e247-4694-9d46-770aa838190c 22cf4b93-69d7-44aa-a47c-b2799d224f5b g.chr5:149669140C>G ENST00000348628.6 - 1 714 c.49G>C c.(49-51)Gag>Cag p.E17Q CAMK2A_ENST00000398376.3_Missense_Mutation_p.E17Q NM_015981.3|NM_171825.2 NP_057065.2|NP_741960.1 Q9UQM7 KCC2A_HUMAN calcium/calmodulin-dependent protein kinase II alpha 17 Protein kinase. interferon-gamma-mediated signaling pathway|positive regulation of NF-kappaB transcription factor activity|synaptic transmission cell junction|cytosol|endocytic vesicle membrane|nucleoplasm|presynaptic membrane ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|skin(1)|stomach(1) 15 all_hematologic(541;0.224) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) CCCAATTCCTCGAAGAGCTGG 0.632000 8 57 0 0 1 0 0 ERCC2 2068 broad.mit.edu 37 19 45867687 45867687 + Missense_Mutation SNP T T C TCGA-E7-A97P-01A-11D-A38G-08 TCGA-E7-A97P-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18b5c355-e247-4694-9d46-770aa838190c 22cf4b93-69d7-44aa-a47c-b2799d224f5b g.chr19:45867687T>C ENST00000391945.4 - 8 790 c.713A>G c.(712-714)aAc>aGc p.N238S ERCC2_ENST00000391944.3_Missense_Mutation_p.N160S|ERCC2_ENST00000485403.2_Missense_Mutation_p.N214S|ERCC2_ENST00000391940.4_Missense_Mutation_p.N214S|ERCC2_ENST00000221481.6_Intron NM_000400.3 NP_000391.1 P18074 ERCC2_HUMAN excision repair cross-complementing rodent repair deficiency, complementation group 2 238 Helicase ATP-binding. cell cycle checkpoint|chromosome segregation|hair cell differentiation|induction of apoptosis|interspecies interaction between organisms|mRNA capping|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein phosphorylation|response to oxidative stress|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|UV protection|viral reproduction cytoplasm|holo TFIIH complex|MMXD complex 5'-3' DNA helicase activity|ATP binding|ATP-dependent DNA helicase activity|DNA binding|iron-sulfur cluster binding|metal ion binding|protein C-terminus binding|protein N-terminus binding p.N238S(1) large_intestine(4)|lung(2)|ovary(1)|pancreas(1)|stomach(1) 9 Ovarian(192;0.0728)|all_neural(266;0.112) OV - Ovarian serous cystadenocarcinoma(262;0.0226) CTCACCAATGTTGTGGGCCTC 0.637000 """Mis, N, F, S""" """skin basal cell, skin squamous cell, melanoma""" Nucleotide excision repair (NER) Xeroderma Pigmentosum 5 28 0 0 1 0 0 EPHA3 2042 broad.mit.edu 37 3 89259167 89259167 + Missense_Mutation SNP G G C TCGA-E7-A97P-01A-11D-A38G-08 TCGA-E7-A97P-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18b5c355-e247-4694-9d46-770aa838190c 22cf4b93-69d7-44aa-a47c-b2799d224f5b g.chr3:89259167G>C ENST00000336596.2 + 3 536 c.311G>C c.(310-312)cGa>cCa p.R104P EPHA3_ENST00000452448.2_Missense_Mutation_p.R104P|EPHA3_ENST00000494014.1_Missense_Mutation_p.R104P NM_005233.5 NP_005224.2 P29320 EPHA3_HUMAN EPH receptor A3 104 extracellular region|integral to plasma membrane ATP binding NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5) 139 all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612) Lung NSC(201;0.0782) LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942) TTCACTCTACGAGACTGCAAT 0.443000 TSP Lung(6;0.00050) 19 70 0 0 1 0 0 STAG2 10735 broad.mit.edu 37 X 123202475 123202475 + Missense_Mutation SNP T T C TCGA-E7-A97P-01A-11D-A38G-08 TCGA-E7-A97P-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18b5c355-e247-4694-9d46-770aa838190c 22cf4b93-69d7-44aa-a47c-b2799d224f5b g.chrX:123202475T>C ENST00000371160.1 + 24 2617 c.2327T>C c.(2326-2328)cTg>cCg p.L776P STAG2_ENST00000371145.3_Missense_Mutation_p.L776P|STAG2_ENST00000371157.3_Missense_Mutation_p.L776P|STAG2_ENST00000218089.9_Missense_Mutation_p.L776P|STAG2_ENST00000354548.5_Missense_Mutation_p.L707P|STAG2_ENST00000371144.3_Missense_Mutation_p.L776P|STAG2_ENST00000469481.1_Intron NM_001282418.1 NP_001269347.1 Q8N3U4 STAG2_HUMAN stromal antigen 2 776 cell division|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|negative regulation of DNA endoreduplication|sister chromatid cohesion chromatin|chromosome, centromeric region|nucleoplasm protein binding breast(5)|central_nervous_system(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(9)|lung(21)|ovary(5)|prostate(2)|skin(5)|urinary_tract(4) 78 CAACATTACCTGACCAACGTG 0.289000 28 34 0 0 1 0 0 EPC1 80314 broad.mit.edu 37 10 32561089 32561089 + Missense_Mutation SNP C C G TCGA-E7-A97P-01A-11D-A38G-08 TCGA-E7-A97P-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18b5c355-e247-4694-9d46-770aa838190c 22cf4b93-69d7-44aa-a47c-b2799d224f5b g.chr10:32561089C>G ENST00000319778.6 - 12 2172 c.1870G>C c.(1870-1872)Gtt>Ctt p.V624L EPC1_ENST00000263062.8_Missense_Mutation_p.V647L|EPC1_ENST00000375110.2_Missense_Mutation_p.V574L NM_001272004.1|NM_001272019.2 NP_001258933.1|NP_001258948.1 Q9H2F5 EPC1_HUMAN enhancer of polycomb homolog 1 (Drosophila) 647 histone H2A acetylation|histone H4 acetylation|negative regulation of gene expression, epigenetic|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|regulation of growth|transcription, DNA-dependent NuA4 histone acetyltransferase complex|nuclear membrane|Piccolo NuA4 histone acetyltransferase complex breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(5)|urinary_tract(1) 24 Prostate(175;0.0199) GTCTTAGAAACAAAACCCTAA 0.343000 11 41 0 0 1 0 0 FXYD5 53827 broad.mit.edu 37 19 35657303 35657303 + Missense_Mutation SNP G G T TCGA-E7-A97P-01A-11D-A38G-08 TCGA-E7-A97P-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18b5c355-e247-4694-9d46-770aa838190c 22cf4b93-69d7-44aa-a47c-b2799d224f5b g.chr19:35657303G>T ENST00000543307.1 + 8 642 c.562G>T c.(562-564)Ggt>Tgt p.G188C FXYD5_ENST00000392217.3_Intron|FXYD5_ENST00000591716.2_Intron|FXYD5_ENST00000392219.2_Intron|FXYD5_ENST00000342879.3_Intron|FXYD5_ENST00000423817.3_Intron|FXYD5_ENST00000588699.1_Missense_Mutation_p.G188C|FXYD5_ENST00000590686.1_Intron|FXYD5_ENST00000541435.2_Intron Q96DB9 FXYD5_HUMAN FXYD domain containing ion transport regulator 5 0 microvillus assembly|negative regulation of calcium-dependent cell-cell adhesion integral to membrane actin binding|cadherin binding|ion channel activity endometrium(2)|kidney(1)|large_intestine(3)|lung(3) 9 all_lung(56;9.4e-09)|Lung NSC(56;1.4e-08)|Esophageal squamous(110;0.162) Epithelial(14;5.75e-22)|OV - Ovarian serous cystadenocarcinoma(14;3.17e-20)|all cancers(14;7.07e-19)|LUSC - Lung squamous cell carcinoma(66;0.0221) GGTTCTCAAAGGTCCCTGGGC 0.453000 4 34 0.00024832 0.000259156 1 1 0 XKR4 114786 broad.mit.edu 37 8 56015435 56015435 + Missense_Mutation SNP C C A TCGA-E7-A97P-01A-11D-A38G-08 TCGA-E7-A97P-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18b5c355-e247-4694-9d46-770aa838190c 22cf4b93-69d7-44aa-a47c-b2799d224f5b g.chr8:56015435C>A ENST00000327381.6 + 1 487 c.387C>A c.(385-387)gaC>gaA p.D129E NM_052898.1 NP_443130.1 Q5GH76 XKR4_HUMAN XK, Kell blood group complex subunit-related family, member 4 integral to membrane NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(3)|large_intestine(4)|liver(2)|lung(12)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 34 Epithelial(17;0.000117)|all cancers(17;0.000836) TGGGCACAGACGTCTGGCTCG 0.667000 15 64 4.7546e-09 5.24835e-09 1 1 0 MROH2B 133558 broad.mit.edu 37 5 41009477 41009477 + Missense_Mutation SNP C C T TCGA-E7-A97P-01A-11D-A38G-08 TCGA-E7-A97P-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18b5c355-e247-4694-9d46-770aa838190c 22cf4b93-69d7-44aa-a47c-b2799d224f5b g.chr5:41009477C>T ENST00000399564.4 - 32 3775 c.3325G>A c.(3325-3327)Gaa>Aaa p.E1109K MROH2B_ENST00000506092.2_Missense_Mutation_p.E664K NM_173489.4 NP_775760.3 maestro heat-like repeat family member 2B GCTGGCTTTTCAGCCAGCGCC 0.498000 27 85 0 0 1 0 0 C5orf55 116349 broad.mit.edu 37 5 442599 442599 + Silent SNP G G A TCGA-E7-A97P-01A-11D-A38G-08 TCGA-E7-A97P-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18b5c355-e247-4694-9d46-770aa838190c 22cf4b93-69d7-44aa-a47c-b2799d224f5b g.chr5:442599G>A ENST00000408966.2 - 1 659 c.339C>T c.(337-339)cgC>cgT p.R113R NM_138464.2 NP_612473.1 Q8N2X6 CE055_HUMAN chromosome 5 open reading frame 55 113 extracellular region large_intestine(1)|lung(2) 3 CCTCTGCAGCGCGGCCCAGTG 0.637000 17 44 0 0 1 0 0 VAX2 25806 broad.mit.edu 37 2 71160141 71160141 + Missense_Mutation SNP C C T TCGA-E7-A97P-01A-11D-A38G-08 TCGA-E7-A97P-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18b5c355-e247-4694-9d46-770aa838190c 22cf4b93-69d7-44aa-a47c-b2799d224f5b g.chr2:71160141C>T ENST00000234392.2 + 3 712 c.680C>T c.(679-681)cCa>cTa p.P227L NM_012476.2 NP_036608.1 Q9UIW0 VAX2_HUMAN ventral anterior homeobox 2 227 ectoderm development|visual perception nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(2)|skin(1) 7 AACTCCTCCCCACGCCTCAAC 0.706000 7 27 0 0 1 0 0 KIAA1377 57562 broad.mit.edu 37 11 101863539 101863539 + Missense_Mutation SNP C C A TCGA-E7-A97P-01A-11D-A38G-08 TCGA-E7-A97P-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18b5c355-e247-4694-9d46-770aa838190c 22cf4b93-69d7-44aa-a47c-b2799d224f5b g.chr11:101863539C>A ENST00000263468.8 + 10 3545 c.3275C>A c.(3274-3276)tCc>tAc p.S1092Y KIAA1377_ENST00000537689.1_Missense_Mutation_p.S893Y NM_020802.2 NP_065853.2 Q9P2H0 K1377_HUMAN KIAA1377 1092 protein binding breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(18)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 53 all_epithelial(12;0.0104) Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00931) BRCA - Breast invasive adenocarcinoma(274;0.038) AAAAACCCATCCATCAAAAAT 0.254000 14 46 1.05317e-09 1.17611e-09 1 1 0 FAM135B 51059 broad.mit.edu 37 8 139189617 139189617 + Missense_Mutation SNP A A C TCGA-E7-A97P-01A-11D-A38G-08 TCGA-E7-A97P-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18b5c355-e247-4694-9d46-770aa838190c 22cf4b93-69d7-44aa-a47c-b2799d224f5b g.chr8:139189617A>C ENST00000395297.1 - 11 1246 c.1076T>G c.(1075-1077)cTt>cGt p.L359R NM_015912.3 NP_056996.2 Q49AJ0 F135B_HUMAN family with sequence similarity 135, member B 359 p.L359P(2) NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1) 238 all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0805) CAGGACTGCAAGTTTTTGGTG 0.418000 HNSCC(54;0.14) 15 39 0 0 1 0 0 HBP1 26959 broad.mit.edu 37 7 106830730 106830730 + Missense_Mutation SNP T T A TCGA-E7-A97P-01A-11D-A38G-08 TCGA-E7-A97P-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18b5c355-e247-4694-9d46-770aa838190c 22cf4b93-69d7-44aa-a47c-b2799d224f5b g.chr7:106830730T>A ENST00000222574.4 + 8 1221 c.1035T>A c.(1033-1035)ttT>ttA p.F345L HBP1_ENST00000461963.1_Intron|HBP1_ENST00000468410.1_Missense_Mutation_p.F345L|HBP1_ENST00000485846.1_Missense_Mutation_p.F345L NM_012257.3 NP_036389.2 O60381 HBP1_HUMAN HMG-box transcription factor 1 345 AXH. cell cycle arrest|regulation of transcription, DNA-dependent|transcription, DNA-dependent|Wnt receptor signaling pathway nucleus DNA binding large_intestine(4)|lung(3)|prostate(1)|skin(2) 10 CCATTAATTTTGATGATTCAG 0.363000 30 137 0 0 1 0 0 SPPL3 121665 broad.mit.edu 37 12 121205362 121205362 + Nonsense_Mutation SNP C C A TCGA-E7-A97P-01A-11D-A38G-08 TCGA-E7-A97P-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18b5c355-e247-4694-9d46-770aa838190c 22cf4b93-69d7-44aa-a47c-b2799d224f5b g.chr12:121205362C>A ENST00000353487.2 - 9 1311 c.808G>T c.(808-810)Gga>Tga p.G270* NM_139015.4 NP_620584.2 Q8TCT6 PSL4_HUMAN signal peptide peptidase like 3 271 integral to membrane aspartic-type endopeptidase activity all_neural(191;0.0684)|Medulloblastoma(191;0.0922) ACGATGTCTCCGATGCCCAAC 0.512000 9 36 0.000442599 0.000456928 1 1 0 ARHGAP33 115703 broad.mit.edu 37 19 36271141 36271141 + Missense_Mutation SNP T T A TCGA-E7-A97P-01A-11D-A38G-08 TCGA-E7-A97P-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18b5c355-e247-4694-9d46-770aa838190c 22cf4b93-69d7-44aa-a47c-b2799d224f5b g.chr19:36271141T>A ENST00000007510.4 + 7 674 c.530T>A c.(529-531)cTc>cAc p.L177H ARHGAP33_ENST00000314737.5_Missense_Mutation_p.L177H|ARHGAP33_ENST00000378944.5_Missense_Mutation_p.L41H O14559 RHG33_HUMAN Rho GTPase activating protein 33 177 cell communication|protein transport|signal transduction intracellular GTPase activator activity|phosphatidylinositol binding|protein binding endometrium(7)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 37 CGACTGCTCCTCAGTGAGGAG 0.577000 8 66 0 0 1 0 0 UAP1L1 91373 broad.mit.edu 37 9 139972887 139972887 + Nonsense_Mutation SNP G G A TCGA-E7-A97P-01A-11D-A38G-08 TCGA-E7-A97P-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18b5c355-e247-4694-9d46-770aa838190c 22cf4b93-69d7-44aa-a47c-b2799d224f5b g.chr9:139972887G>A ENST00000360271.3 + 1 295 c.59G>A c.(58-60)tGg>tAg p.W20* UAP1L1_ENST00000409858.3_Intron|UAP1L1_ENST00000476184.1_Intron Q3KQV9 UAP1L_HUMAN UDP-N-acteylglucosamine pyrophosphorylase 1-like 1 0 nucleotidyltransferase activity kidney(1)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 8 all_cancers(76;0.0926) Myeloproliferative disorder(178;0.0821) STAD - Stomach adenocarcinoma(284;0.0878) OV - Ovarian serous cystadenocarcinoma(145;2.96e-05)|Epithelial(140;0.000486) TGCCGGCTCTGGTCCGAGCCC 0.697000 9 21 0 0 1 0 0 PITPNM2 57605 broad.mit.edu 37 12 123477076 123477076 + Missense_Mutation SNP G G C TCGA-E7-A97P-01A-11D-A38G-08 TCGA-E7-A97P-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18b5c355-e247-4694-9d46-770aa838190c 22cf4b93-69d7-44aa-a47c-b2799d224f5b g.chr12:123477076G>C ENST00000280562.5 - 15 2579 c.2374C>G c.(2374-2376)Ccg>Gcg p.P792A PITPNM2_ENST00000320201.4_Missense_Mutation_p.P792A|PITPNM2_ENST00000392428.1_Missense_Mutation_p.P513A|PITPNM2_ENST00000542749.1_Missense_Mutation_p.P792A Q9BZ72 PITM2_HUMAN phosphatidylinositol transfer protein, membrane-associated 2 792 DDHD. metabolic process|transport endomembrane system|integral to membrane|intracellular membrane-bounded organelle calcium ion binding|lipid binding NS(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 39 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;2.55e-05)|Epithelial(86;8.43e-05)|BRCA - Breast invasive adenocarcinoma(302;0.123) TCCCCCAGCGGGTAGCGTTGG 0.687000 17 52 0 0 1 0 0 RARRES1 5918 broad.mit.edu 37 3 158431599 158431599 + Missense_Mutation SNP C C T TCGA-E7-A97P-01A-11D-A38G-08 TCGA-E7-A97P-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18b5c355-e247-4694-9d46-770aa838190c 22cf4b93-69d7-44aa-a47c-b2799d224f5b g.chr3:158431599C>T ENST00000237696.5 - 2 606 c.326G>A c.(325-327)cGc>cAc p.R109H RARRES1_ENST00000479756.1_Missense_Mutation_p.R109H|RARRES1_ENST00000498640.1_5'UTR NM_206963.1 NP_996846.1 P49788 TIG1_HUMAN retinoic acid receptor responder (tazarotene induced) 1 109 negative regulation of cell proliferation integral to membrane NS(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(1)|ovary(1) 9 Lung(72;0.00309)|LUSC - Lung squamous cell carcinoma(72;0.0043) Tretinoin(DB00755) TGGGTTGTAGCGCTCTGTGCT 0.383000 20 90 0 0 1 0 0 TPGS2 25941 broad.mit.edu 37 18 34380205 34380205 + Missense_Mutation SNP T T C TCGA-E7-A97P-01A-11D-A38G-08 TCGA-E7-A97P-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18b5c355-e247-4694-9d46-770aa838190c 22cf4b93-69d7-44aa-a47c-b2799d224f5b g.chr18:34380205T>C ENST00000334295.4 - 5 879 c.452A>G c.(451-453)aAt>aGt p.N151S TPGS2_ENST00000383056.3_Missense_Mutation_p.N108S|TPGS2_ENST00000587129.1_Missense_Mutation_p.N151S|TPGS2_ENST00000593035.1_Missense_Mutation_p.N116S|TPGS2_ENST00000589049.1_Missense_Mutation_p.N151S|TPGS2_ENST00000590842.1_Missense_Mutation_p.N151S|TPGS2_ENST00000590652.1_5'UTR NM_015476.2 NP_056291.2 Q68CL5 TPGS2_HUMAN tubulin polyglutamylase complex subunit 2 151 cytoplasm|microtubule CCCACTGCCATTGCATGAATC 0.463000 37 142 0 0 1 0 0 SYDE1 85360 broad.mit.edu 37 19 15224636 15224636 + Silent SNP C C A TCGA-E7-A97P-01A-11D-A38G-08 TCGA-E7-A97P-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18b5c355-e247-4694-9d46-770aa838190c 22cf4b93-69d7-44aa-a47c-b2799d224f5b g.chr19:15224636C>A ENST00000600252.1 + 5 2683 c.1041C>A c.(1039-1041)gtC>gtA p.V347V SYDE1_ENST00000600440.1_Silent_p.V623V|SYDE1_ENST00000342784.2_Silent_p.V690V Q6ZW31 SYDE1_HUMAN synapse defective 1, Rho GTPase, homolog 1 (C. elegans) 690 activation of Rho GTPase activity|small GTPase mediated signal transduction cytosol Rho GTPase activator activity endometrium(4)|kidney(1)|large_intestine(7)|lung(2)|ovary(1)|pancreas(1)|skin(1) 17 ACGAGGAGGTCGGCGAGCCGA 0.632000 45 116 9.57592e-29 1.12635e-28 1 1 0 RYR1 6261 broad.mit.edu 37 19 38973746 38973746 + Missense_Mutation SNP A A G TCGA-E7-A97P-01A-11D-A38G-08 TCGA-E7-A97P-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18b5c355-e247-4694-9d46-770aa838190c 22cf4b93-69d7-44aa-a47c-b2799d224f5b g.chr19:38973746A>G ENST00000355481.4 + 32 4831 c.4700A>G c.(4699-4701)aAg>aGg p.K1567R RYR1_ENST00000359596.3_Missense_Mutation_p.K1567R|RYR1_ENST00000360985.3_Missense_Mutation_p.K1567R NM_000540.2|NM_001042723.1 NP_000531.2|NP_001036188.1 P21817 RYR1_HUMAN ryanodine receptor 1 (skeletal) 1567 6 X approximate repeats.|B30.2/SPRY 3. muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7) 285 all_cancers(60;7.91e-06) Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272) Dantrolene(DB01219) GAGCTGGGGAAGCAGAAGGTA 0.612000 6 42 0 0 1 0 0 ARNT 405 broad.mit.edu 37 1 150789620 150789620 + Missense_Mutation SNP T T C TCGA-E7-A97P-01A-11D-A38G-08 TCGA-E7-A97P-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18b5c355-e247-4694-9d46-770aa838190c 22cf4b93-69d7-44aa-a47c-b2799d224f5b g.chr1:150789620T>C ENST00000358595.5 - 17 1837 c.1637A>G c.(1636-1638)gAt>gGt p.D546G ARNT_ENST00000515192.1_Missense_Mutation_p.D532G|ARNT_ENST00000354396.2_Missense_Mutation_p.D546G|ARNT_ENST00000505755.1_Missense_Mutation_p.D531G NM_001197325.1|NM_001668.3|NM_178427.2 NP_001184254.1|NP_001659.1|NP_848514.1 P27540 ARNT_HUMAN aryl hydrocarbon receptor nuclear translocator 546 positive regulation of hormone biosynthetic process|positive regulation vascular endothelial growth factor production|regulation of transcription from RNA polymerase II promoter in response to oxidative stress|response to hypoxia aryl hydrocarbon receptor binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(11)|prostate(2)|skin(4)|stomach(1) 34 all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.02)|BRCA - Breast invasive adenocarcinoma(12;0.00606)|LUSC - Lung squamous cell carcinoma(543;0.211) AAATAAACCATCTGACTTCTC 0.373000 T ETV6 AML 14 39 0 0 1 0 0 FRMD4A 55691 broad.mit.edu 37 10 13717008 13717008 + Missense_Mutation SNP T T C TCGA-E7-A97P-01A-11D-A38G-08 TCGA-E7-A97P-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18b5c355-e247-4694-9d46-770aa838190c 22cf4b93-69d7-44aa-a47c-b2799d224f5b g.chr10:13717008T>C ENST00000357447.2 - 16 1522 c.1154A>G c.(1153-1155)aAg>aGg p.K385R FRMD4A_ENST00000378503.1_Missense_Mutation_p.K385R|FRMD4A_ENST00000358621.4_Missense_Mutation_p.K370R NM_018027.3 NP_060497.3 Q9P2Q2 FRM4A_HUMAN FERM domain containing 4A 385 cytoplasm|cytoskeleton binding breast(4)|endometrium(9)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(1) 41 CAGCATGTCCTTCTTGGCCGA 0.542000 14 72 0 0 1 0 0 FLII 2314 broad.mit.edu 37 17 18151059 18151059 + Missense_Mutation SNP G G A TCGA-E7-A97P-01A-11D-A38G-08 TCGA-E7-A97P-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18b5c355-e247-4694-9d46-770aa838190c 22cf4b93-69d7-44aa-a47c-b2799d224f5b g.chr17:18151059G>A ENST00000327031.4 - 20 2624 c.2399C>T c.(2398-2400)gCc>gTc p.A800V FLII_ENST00000379450.4_Missense_Mutation_p.A714V|FLII_ENST00000545457.2_Missense_Mutation_p.A745V|FLII_ENST00000579294.1_Missense_Mutation_p.A789V|FLII_ENST00000578558.1_Intron NM_002018.3 NP_002009.1 Q13045 FLII_HUMAN flightless I homolog (Drosophila) 800 Interaction with ACTL6A. multicellular organismal development|muscle contraction|regulation of transcription, DNA-dependent|transcription, DNA-dependent centrosome|nucleus actin binding central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 32 all_neural(463;0.228) CAGCTTGAGGGCGGCAGCGCG 0.687000 7 21 0 0 1 0 0 TARS2 80222 broad.mit.edu 37 1 150463184 150463184 + Missense_Mutation SNP C C A TCGA-E7-A97P-01A-11D-A38G-08 TCGA-E7-A97P-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18b5c355-e247-4694-9d46-770aa838190c 22cf4b93-69d7-44aa-a47c-b2799d224f5b g.chr1:150463184C>A ENST00000369064.3 + 4 529 c.495C>A c.(493-495)ttC>ttA p.F165L TARS2_ENST00000438568.2_Intron|TARS2_ENST00000369054.2_Missense_Mutation_p.F165L|TARS2_ENST00000606933.1_Missense_Mutation_p.F165L NM_025150.3 NP_079426.2 Q9BW92 SYTM_HUMAN threonyl-tRNA synthetase 2, mitochondrial (putative) 165 threonyl-tRNA aminoacylation mitochondrial matrix ATP binding|threonine-tRNA ligase activity p.F165L(1) cervix(1)|endometrium(4)|large_intestine(7)|lung(19)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1) 35 all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|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;0.0757)|all cancers(9;1.51e-21)|BRCA - Breast invasive adenocarcinoma(12;0.000734)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206) L-Threonine(DB00156) ACCATGATTTCTTCCTGGGAA 0.507000 20 85 2.39187e-15 2.7569e-15 1 1 0 PCDHGA4 56111 broad.mit.edu 37 5 140736874 140736874 + Missense_Mutation SNP G G A TCGA-E7-A97P-01A-11D-A38G-08 TCGA-E7-A97P-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18b5c355-e247-4694-9d46-770aa838190c 22cf4b93-69d7-44aa-a47c-b2799d224f5b g.chr5:140736874G>A ENST00000571252.1 + 1 2107 c.2107G>A c.(2107-2109)Gtc>Atc p.V703I PCDHGA3_ENST00000253812.6_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron NM_018917.2 NP_061740 endometrium(1)|kidney(1)|lung(3) 5 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TGTCTCCTGCGTCTTCCTGGC 0.607000 13 46 0 0 1 0 0 FSTL1 11167 broad.mit.edu 37 3 120115834 120115834 + Missense_Mutation SNP C C T TCGA-E7-A97P-01A-11D-A38G-08 TCGA-E7-A97P-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18b5c355-e247-4694-9d46-770aa838190c 22cf4b93-69d7-44aa-a47c-b2799d224f5b g.chr3:120115834C>T ENST00000295633.3 - 11 1248 c.892G>A c.(892-894)Gaa>Aaa p.E298K FSTL1_ENST00000424703.2_Missense_Mutation_p.E263K NM_007085.4 NP_009016.1 Q12841 FSTL1_HUMAN follistatin-like 1 298 BMP signaling pathway extracellular space calcium ion binding|heparin binding central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|skin(1) 20 GBM - Glioblastoma multiforme(114;0.189) TTGGTCTTTTCAGCTGTTTCC 0.418000 4 85 0 0 1 0 0 TTC7A 57217 broad.mit.edu 37 2 47206029 47206029 + Silent SNP G G C TCGA-E7-A97P-01A-11D-A38G-08 TCGA-E7-A97P-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18b5c355-e247-4694-9d46-770aa838190c 22cf4b93-69d7-44aa-a47c-b2799d224f5b g.chr2:47206029G>C ENST00000319190.5 + 5 1115 c.747G>C c.(745-747)gtG>gtC p.V249V TTC7A_ENST00000394850.2_Silent_p.V249V|TTC7A_ENST00000409245.1_Silent_p.V215V|TTC7A_ENST00000263737.6_5'UTR|TTC7A_ENST00000461601.1_3'UTR NM_020458.2 NP_065191.2 Q9ULT0 TTC7A_HUMAN tetratricopeptide repeat domain 7A 249 binding breast(4)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 25 all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18) Lung(47;0.0792)|LUSC - Lung squamous cell carcinoma(58;0.114) GCGCCTATGTGAAAAACCTGA 0.542000 5 36 0 0 1 0 0 ACAP1 9744 broad.mit.edu 37 17 7249747 7249747 + Missense_Mutation SNP G G A TCGA-E7-A97P-01A-11D-A38G-08 TCGA-E7-A97P-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18b5c355-e247-4694-9d46-770aa838190c 22cf4b93-69d7-44aa-a47c-b2799d224f5b g.chr17:7249747G>A ENST00000158762.3 + 12 1150 c.944G>A c.(943-945)tGc>tAc p.C315Y NM_014716.3 NP_055531.1 Q15027 ACAP1_HUMAN ArfGAP with coiled-coil, ankyrin repeat and PH domains 1 315 PH.|Required for formation of endosomal tubules when overexpressed with PIP5K1C. intracellular signal transduction|lipid metabolic process|protein transport|regulation of ARF GTPase activity ARF GTPase activator activity|phospholipase C activity|protein binding|zinc ion binding NS(1)|breast(5)|cervix(3)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(6)|prostate(3)|skin(1)|urinary_tract(1) 33 CTTCGTCTCTGCACAGTGAAA 0.547000 OREG0024135 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 38 54 0 0 1 0 0 CARD6 84674 broad.mit.edu 37 5 40853064 40853064 + Missense_Mutation SNP G G T TCGA-E7-A97P-01A-11D-A38G-08 TCGA-E7-A97P-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18b5c355-e247-4694-9d46-770aa838190c 22cf4b93-69d7-44aa-a47c-b2799d224f5b g.chr5:40853064G>T ENST00000254691.5 + 3 1829 c.1630G>T c.(1630-1632)Ggt>Tgt p.G544C CARD6_ENST00000381677.3_Intron NM_032587.3 NP_115976.2 Q9BX69 CARD6_HUMAN caspase recruitment domain family, member 6 544 apoptosis|regulation of apoptosis intracellular NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(2)|lung(29)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1) 62 GACTCAGTTTGGTTTTTTGAT 0.403000 19 88 5.35267e-07 5.819e-07 1 1 0 ATP6AP1 537 broad.mit.edu 37 X 153664175 153664175 + Missense_Mutation SNP A A C TCGA-E7-A97P-01A-11D-A38G-08 TCGA-E7-A97P-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18b5c355-e247-4694-9d46-770aa838190c 22cf4b93-69d7-44aa-a47c-b2799d224f5b g.chrX:153664175A>C ENST00000369762.2 + 10 1412 c.1351A>C c.(1351-1353)Aag>Cag p.K451Q NM_001183.4 NP_001174.2 Q15904 VAS1_HUMAN ATPase, H+ transporting, lysosomal accessory protein 1 451 ATP hydrolysis coupled proton transport integral to membrane|proton-transporting V-type ATPase, V1 domain|vacuolar membrane ATP binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism breast(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(5) 14 all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176) CCTCAGCCTCAAGACCATGGA 0.572000 46 70 0 0 1 0 0 KIF2B 84643 broad.mit.edu 37 17 51901046 51901046 + Missense_Mutation SNP G G A TCGA-E7-A97P-01A-11D-A38G-08 TCGA-E7-A97P-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18b5c355-e247-4694-9d46-770aa838190c 22cf4b93-69d7-44aa-a47c-b2799d224f5b g.chr17:51901046G>A ENST00000268919.4 + 1 808 c.652G>A c.(652-654)Gtg>Atg p.V218M NM_032559.4 NP_115948.4 Q8N4N8 KIF2B_HUMAN kinesin family member 2B 218 Kinesin-motor. blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle ATP binding|microtubule motor activity NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 104 CTGCGTCTGCGTGAGGAAGCG 0.542000 26 23 0 0 1 0 0 TPRG1L 127262 broad.mit.edu 37 1 3544188 3544188 + Missense_Mutation SNP G G A TCGA-E7-A97P-01A-11D-A38G-08 TCGA-E7-A97P-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18b5c355-e247-4694-9d46-770aa838190c 22cf4b93-69d7-44aa-a47c-b2799d224f5b g.chr1:3544188G>A ENST00000378344.2 + 4 666 c.595G>A c.(595-597)Gca>Aca p.A199T TPRG1L_ENST00000344579.5_Missense_Mutation_p.A140T NM_182752.3 NP_877429.2 Q5T0D9 TPRGL_HUMAN tumor protein p63 regulated 1-like 199 cell junction|synaptic vesicle endometrium(2)|kidney(2)|large_intestine(1)|lung(2)|prostate(1) 8 all_cancers(77;0.0119)|all_epithelial(69;0.00481)|Ovarian(185;0.0634)|Lung NSC(156;0.162)|all_lung(157;0.172) all_epithelial(116;7.37e-22)|all_lung(118;8.23e-09)|Lung NSC(185;3.55e-06)|Breast(487;0.000659)|Renal(390;0.00121)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Lung SC(97;0.0262)|Ovarian(437;0.0308)|Medulloblastoma(700;0.211) Epithelial(90;3.41e-38)|OV - Ovarian serous cystadenocarcinoma(86;3.83e-22)|GBM - Glioblastoma multiforme(42;4.77e-14)|Colorectal(212;1.12e-05)|COAD - Colon adenocarcinoma(227;5.61e-05)|Kidney(185;0.000351)|BRCA - Breast invasive adenocarcinoma(365;0.000688)|KIRC - Kidney renal clear cell carcinoma(229;0.00553)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.201) GATGGCTGGCGCAGATGAGAA 0.542000 30 118 0 0 1 0 0 PCDH9 5101 broad.mit.edu 37 13 66878787 66878787 + Nonstop_Mutation SNP T T G TCGA-E7-A97P-01A-11D-A38G-08 TCGA-E7-A97P-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18b5c355-e247-4694-9d46-770aa838190c 22cf4b93-69d7-44aa-a47c-b2799d224f5b g.chr13:66878787T>G ENST00000544246.1 - 5 4405 c.3714A>C c.(3712-3714)taA>taC p.*1238Y PCDH9_ENST00000328454.5_Nonstop_Mutation_p.*1204Y|PCDH9_ENST00000456367.1_Nonstop_Mutation_p.*1204Y|PCDH9_ENST00000377865.2_Nonstop_Mutation_p.*1238Y|PCDH9-AS1_ENST00000430861.1_RNA NM_203487.2 NP_982354.1 Q9HC56 PCDH9_HUMAN protocadherin 9 0 homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(2)|central_nervous_system(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(33)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(3) 103 Hepatocellular(98;0.0906)|Breast(118;0.107) GBM - Glioblastoma multiforme(99;0.00819) TAGCCTTTTCTTAGAGTTGGT 0.423000 14 39 0 0 1 0 0 ZNF7 7553 broad.mit.edu 37 8 146067713 146067713 + Silent SNP C C T rs146760497 by1000genomes TCGA-E7-A97P-01A-11D-A38G-08 TCGA-E7-A97P-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18b5c355-e247-4694-9d46-770aa838190c 22cf4b93-69d7-44aa-a47c-b2799d224f5b g.chr8:146067713C>T ENST00000528372.1 + 5 1461 c.1221C>T c.(1219-1221)caC>caT p.H407H ZNF7_ENST00000446747.2_Silent_p.H418H|ZNF7_ENST00000525266.1_Intron|ZNF7_ENST00000325217.5_Intron|ZNF7_ENST00000325241.6_Silent_p.H407H|ZNF7_ENST00000544249.1_Silent_p.H311H P17097 ZNF7_HUMAN zinc finger protein 7 407 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) AGAGAATTCACGCTGTAGAGA 0.478000 39 75 0 0 1 0 0 CAPRIN1 4076 broad.mit.edu 37 11 34118751 34118751 + Missense_Mutation SNP G G A TCGA-E7-A97P-01A-11D-A38G-08 TCGA-E7-A97P-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18b5c355-e247-4694-9d46-770aa838190c 22cf4b93-69d7-44aa-a47c-b2799d224f5b g.chr11:34118751G>A ENST00000341394.4 + 17 2098 c.1909G>A c.(1909-1911)Gat>Aat p.D637N CAPRIN1_ENST00000389645.3_Missense_Mutation_p.D637N|CAPRIN1_ENST00000533657.1_3'UTR|CAPRIN1_ENST00000530820.1_Missense_Mutation_p.D637N|CAPRIN1_ENST00000529307.1_Missense_Mutation_p.D556N|CAPRIN1_ENST00000532820.1_Missense_Mutation_p.D637N NM_005898.4 NP_005889.3 Q14444 CAPR1_HUMAN cell cycle associated protein 1 637 negative regulation of translation|positive regulation of dendrite morphogenesis|positive regulation of dendritic spine morphogenesis cytoplasmic mRNA processing body|cytosol|dendrite|integral to plasma membrane|stress granule protein binding|RNA binding breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(1) 18 Acute lymphoblastic leukemia(5;0.00045)|all_hematologic(20;0.0016) AGGAGGATATGATGGTTACCG 0.368000 4 38 0 0 1 0 0 NAA15 80155 broad.mit.edu 37 4 140278629 140278629 + Missense_Mutation SNP G G T TCGA-E7-A97P-01A-11D-A38G-08 TCGA-E7-A97P-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18b5c355-e247-4694-9d46-770aa838190c 22cf4b93-69d7-44aa-a47c-b2799d224f5b g.chr4:140278629G>T ENST00000296543.5 + 11 1500 c.1177G>T c.(1177-1179)Gct>Tct p.A393S NAA15_ENST00000398947.1_Missense_Mutation_p.A393S NM_057175.3 NP_476516.1 Q9BXJ9 NAA15_HUMAN N(alpha)-acetyltransferase 15, NatA auxiliary subunit 393 angiogenesis|cell differentiation|N-terminal protein amino acid acetylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|transcription factor complex protein binding NS(1)|endometrium(3)|large_intestine(7)|liver(2)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 29 GCCATCTATTGCTTTGGAGTA 0.353000 7 43 0.000157383 0.000166063 1 1 0 SLC46A3 283537 broad.mit.edu 37 13 29286865 29286865 + Missense_Mutation SNP C C G TCGA-E7-A97P-01A-11D-A38G-08 TCGA-E7-A97P-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18b5c355-e247-4694-9d46-770aa838190c 22cf4b93-69d7-44aa-a47c-b2799d224f5b g.chr13:29286865C>G ENST00000266943.6 - 3 1381 c.1012G>C c.(1012-1014)Gga>Cga p.G338R SLC46A3_ENST00000380814.4_Missense_Mutation_p.G338R NM_001135919.1|NM_181785.3 NP_001129391.1|NP_861450.1 Q7Z3Q1 S46A3_HUMAN solute carrier family 46, member 3 338 transmembrane transport integral to membrane central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(2)|prostate(1)|skin(1) 15 Lung SC(185;0.0367) all cancers(112;0.159) ATAGCCATTCCTGTCATCGTG 0.358000 22 48 0 0 1 0 0 MIR508 574513 broad.mit.edu 37 X 146318513 146318513 + RNA SNP C C T TCGA-E7-A97P-01A-11D-A38G-08 TCGA-E7-A97P-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18b5c355-e247-4694-9d46-770aa838190c 22cf4b93-69d7-44aa-a47c-b2799d224f5b g.chrX:146318513C>T ENST00000384857.1 - 0 32 NR_030235.1 GTGACGCCCTCTGGAGTAGGG 0.428000 4 11 0 0 1 0 0 TUBBP5 643224 broad.mit.edu 37 9 141070116 141070116 + RNA SNP G G A rs142836124 by1000genomes TCGA-E7-A97P-01A-11D-A38G-08 TCGA-E7-A97P-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18b5c355-e247-4694-9d46-770aa838190c 22cf4b93-69d7-44aa-a47c-b2799d224f5b g.chr9:141070116G>A ENST00000503395.1 + 0 1196 p.R77H(1) GACTCTGTGCGCTCGGGGCCC 0.687000 4 43 0 0 1 0 0 ZNF461 92283 broad.mit.edu 37 19 37147369 37147369 + Missense_Mutation SNP C C G TCGA-E7-A97P-01A-11D-A38G-08 TCGA-E7-A97P-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18b5c355-e247-4694-9d46-770aa838190c 22cf4b93-69d7-44aa-a47c-b2799d224f5b g.chr19:37147369C>G ENST00000588268.1 - 4 440 c.213G>C c.(211-213)gaG>gaC p.E71D ZNF461_ENST00000360357.4_Missense_Mutation_p.E71D NM_153257.2 NP_694989.2 Q8TAF7 ZN461_HUMAN zinc finger protein 461 71 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(4)|kidney(1)|large_intestine(4)|lung(17)|prostate(1)|urinary_tract(2) 29 Esophageal squamous(110;0.198) COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065) ATCTTCCTGTCTCTTCCCTCA 0.488000 5 42 0 0 1 0 0 SEPT14 346288 broad.mit.edu 37 7 55902224 55902224 + Missense_Mutation SNP T T C TCGA-E7-A97P-01A-11D-A38G-08 TCGA-E7-A97P-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18b5c355-e247-4694-9d46-770aa838190c 22cf4b93-69d7-44aa-a47c-b2799d224f5b g.chr7:55902224T>C ENST00000388975.3 - 6 730 c.614A>G c.(613-615)cAg>cGg p.Q205R NM_207366.2 NP_997249.2 Q6ZU15 SEP14_HUMAN septin 14 205 cell cycle|cell division septin complex GTP binding|protein binding haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(15)|skin(2) 23 Breast(14;0.214) Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099) CTTAAACGTCTGTAAATCATT 0.353000 7 28 0 0 1 0 0 WFDC8 90199 broad.mit.edu 37 20 44184453 44184453 + Nonsense_Mutation SNP C C T TCGA-E7-A97P-01A-11D-A38G-08 TCGA-E7-A97P-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18b5c355-e247-4694-9d46-770aa838190c 22cf4b93-69d7-44aa-a47c-b2799d224f5b g.chr20:44184453C>T ENST00000357199.4 - 4 410 c.332G>A c.(331-333)tGg>tAg p.W111* WFDC8_ENST00000289953.2_Nonsense_Mutation_p.W111* NM_181510.2 NP_852611.2 Q8IUA0 WFDC8_HUMAN WAP four-disulfide core domain 8 111 BPTI/Kunitz inhibitor. extracellular region serine-type endopeptidase inhibitor activity central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(4)|stomach(1)|upper_aerodigestive_tract(1) 15 Myeloproliferative disorder(115;0.0122) GTCAAAATGCCAGCGCTGTGC 0.473000 21 49 0 0 1 0 0 INO80 54617 broad.mit.edu 37 15 41350881 41350881 + Silent SNP T T C TCGA-E7-A97P-01A-11D-A38G-08 TCGA-E7-A97P-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18b5c355-e247-4694-9d46-770aa838190c 22cf4b93-69d7-44aa-a47c-b2799d224f5b g.chr15:41350881T>C ENST00000361937.3 - 16 2365 c.1941A>G c.(1939-1941)caA>caG p.Q647Q INO80_ENST00000401393.3_Silent_p.Q647Q Q9ULG1 INO80_HUMAN INO80 complex subunit 647 Assembles INO80 complex module consisting of conserved components INO80B, INO80C, ACTR5, RVBL1, RVBL2.|Helicase ATP-binding. cell division|cellular response to ionizing radiation|cellular response to UV|chromatin remodeling|double-strand break repair via homologous recombination|mitotic sister chromatid segregation|positive regulation of cell growth|positive regulation of DNA replication involved in S phase|positive regulation of transcription from RNA polymerase II promoter|regulation of G1/S transition of mitotic cell cycle|spindle assembly|UV-damage excision repair Ino80 complex|microtubule actin binding|alpha-tubulin binding|ATP binding|ATPase activity|DNA binding|DNA helicase activity NS(1)|breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 49 GTACCATGTATTGCCACTTGA 0.478000 15 42 0 0 1 0 0 SFPQ 6421 broad.mit.edu 37 1 35656103 35656103 + Nonsense_Mutation SNP G G A TCGA-E7-A97P-01A-11D-A38G-08 TCGA-E7-A97P-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18b5c355-e247-4694-9d46-770aa838190c 22cf4b93-69d7-44aa-a47c-b2799d224f5b g.chr1:35656103G>A ENST00000357214.5 - 4 1509 c.1411C>T c.(1411-1413)Caa>Taa p.Q471* NM_005066.2 NP_005057.1 P23246 SFPQ_HUMAN splicing factor proline/glutamine-rich 471 alternative nuclear mRNA splicing, via spliceosome|DNA recombination|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent nuclear matrix|paraspeckles DNA binding|nucleotide binding|protein binding|RNA binding SFPQ/TFE3(6) NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(4)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 25 Myeloproliferative disorder(586;0.0393)|all_neural(195;0.196) TCTTACTTTTGATACATTGGA 0.308000 T TFE3 papillary renal cell 4 34 0 0 1 0 0 FERMT3 83706 broad.mit.edu 37 11 63990581 63990581 + Missense_Mutation SNP G G C TCGA-E7-A97P-01A-11D-A38G-08 TCGA-E7-A97P-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18b5c355-e247-4694-9d46-770aa838190c 22cf4b93-69d7-44aa-a47c-b2799d224f5b g.chr11:63990581G>C ENST00000279227.5 + 14 1839 c.1744G>C c.(1744-1746)Gac>Cac p.D582H FERMT3_ENST00000345728.5_Missense_Mutation_p.D578H NM_178443.2 NP_848537.1 Q86UX7 URP2_HUMAN fermitin family member 3 582 integrin activation|leukocyte cell-cell adhesion|platelet aggregation|regulation of cell-cell adhesion mediated by integrin cell junction|cell projection|podosome integrin binding breast(1)|cervix(1)|endometrium(4)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 18 GATCCGCATCGACTTGGCCGT 0.627000 9 41 0 0 1 0 0 SLC35G2 80723 broad.mit.edu 37 3 136573881 136573881 + Silent SNP T T C TCGA-E7-A97P-01A-11D-A38G-08 TCGA-E7-A97P-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18b5c355-e247-4694-9d46-770aa838190c 22cf4b93-69d7-44aa-a47c-b2799d224f5b g.chr3:136573881T>C ENST00000446465.2 + 2 1207 c.579T>C c.(577-579)aaT>aaC p.N193N RP11-85F14.5_ENST00000474250.1_RNA|SLC35G2_ENST00000393079.3_Silent_p.N193N|RP11-85F14.5_ENST00000461864.1_RNA|RP11-85F14.5_ENST00000470236.1_RNA NM_025246.2 NP_079522.2 Q8TBE7 TMM22_HUMAN solute carrier family 35, member G2 193 DUF6 1. Golgi apparatus|integral to membrane CTCCCAGCAATGGGACCACTA 0.408000 28 105 0 0 1 0 0 ISM1 140862 broad.mit.edu 37 20 13269291 13269291 + Missense_Mutation SNP G G A TCGA-E7-A97P-01A-11D-A38G-08 TCGA-E7-A97P-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18b5c355-e247-4694-9d46-770aa838190c 22cf4b93-69d7-44aa-a47c-b2799d224f5b g.chr20:13269291G>A ENST00000262487.4 + 4 754 c.748G>A c.(748-750)Gca>Aca p.A250T TASP1_ENST00000539805.1_Intron NM_080826.1 NP_543016.1 B1AKI9 ISM1_HUMAN isthmin 1, angiogenesis inhibitor TSP type-1. extracellular region p.C248fs*22(1) NS(1)|autonomic_ganglia(1)|endometrium(1)|large_intestine(8)|lung(5)|urinary_tract(1) 17 CGCGTGCACTGCAACAGAATC 0.537000 13 59 0 0 1 0 0 DCDC2 51473 broad.mit.edu 37 6 24178651 24178651 + Missense_Mutation SNP C C A TCGA-E7-A97P-01A-11D-A38G-08 TCGA-E7-A97P-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18b5c355-e247-4694-9d46-770aa838190c 22cf4b93-69d7-44aa-a47c-b2799d224f5b g.chr6:24178651C>A ENST00000378454.3 - 9 1534 c.1233G>T c.(1231-1233)gaG>gaT p.E411D DCDC2_ENST00000378450.3_Missense_Mutation_p.E164D NM_001195610.1|NM_016356.3 NP_001182539.1|NP_057440.2 Q9UHG0 DCDC2_HUMAN doublecortin domain containing 2 411 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) CCTCACCATTCTCCTCATCGG 0.522000 17 112 4.14922e-12 4.7255e-12 1 1 0 PRKG1 5592 broad.mit.edu 37 10 54040658 54040658 + Missense_Mutation SNP C C G TCGA-E7-A97P-01A-11D-A38G-08 TCGA-E7-A97P-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18b5c355-e247-4694-9d46-770aa838190c 22cf4b93-69d7-44aa-a47c-b2799d224f5b g.chr10:54040658C>G ENST00000373980.4 + 13 1930 c.1513C>G c.(1513-1515)Ctc>Gtc p.L505V PRKG1_ENST00000373985.1_Missense_Mutation_p.L478V|PRKG1_ENST00000401604.2_Missense_Mutation_p.L490V|PRKG1-AS1_ENST00000426785.2_RNA|PRKG1-AS1_ENST00000452247.2_RNA|PRKG1_ENST00000373975.2_Missense_Mutation_p.L208V NM_006258.3 NP_006249.1 Q13976 KGP1_HUMAN protein kinase, cGMP-dependent, type I 490 Protein kinase. actin cytoskeleton organization|platelet activation|signal transduction cytosol ATP binding|cGMP binding|cGMP-dependent protein kinase activity autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2) 53 all_cancers(4;2.13e-08)|all_epithelial(4;2.44e-08)|all_lung(4;0.000173) all cancers(4;1.18e-05)|GBM - Glioblastoma multiforme(4;0.000359)|Epithelial(53;0.00532)|Lung(62;0.0606) GCCAGAAAATCTCATCCTAGA 0.393000 29 80 0 0 1 0 0 SLURP1 57152 broad.mit.edu 37 8 143822607 143822607 + Missense_Mutation SNP T T C TCGA-E7-A97P-01A-11D-A38G-08 TCGA-E7-A97P-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18b5c355-e247-4694-9d46-770aa838190c 22cf4b93-69d7-44aa-a47c-b2799d224f5b g.chr8:143822607T>C ENST00000246515.1 - 3 291 c.266A>G c.(265-267)cAc>cGc p.H89R NM_020427.2 NP_065160.1 P55000 SLUR1_HUMAN secreted LY6/PLAUR domain containing 1 89 cell activation|cell adhesion extracellular space cytokine activity breast(1)|lung(7)|ovary(1) 9 all_cancers(97;3.96e-12)|all_epithelial(106;1.19e-08)|Lung NSC(106;0.000413)|all_lung(105;0.00106)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155) GAAGATCAGGTGGGCGGCCCC 0.672000 7 19 0 0 1 0 0 MRGPRX1 259249 broad.mit.edu 37 11 18956411 18956411 + Translation_Start_Site SNP C C T TCGA-E7-A97P-01A-11D-A38G-08 TCGA-E7-A97P-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18b5c355-e247-4694-9d46-770aa838190c 22cf4b93-69d7-44aa-a47c-b2799d224f5b g.chr11:18956411C>T ENST00000302797.3 - 0 145 MRGPRX1_ENST00000526914.1_Intron NM_147199.3 NP_671732.3 Q96LB2 MRGX1_HUMAN MAS-related GPR, member X1 acute-phase response integral to membrane|plasma membrane G-protein coupled receptor activity central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(12)|pancreas(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 36 attctccccaccaccctgcca 0.483000 19 94 0 0 1 0 0 USP54 159195 broad.mit.edu 37 10 75277120 75277120 + Missense_Mutation SNP G G C TCGA-E7-A97P-01A-11D-A38G-08 TCGA-E7-A97P-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18b5c355-e247-4694-9d46-770aa838190c 22cf4b93-69d7-44aa-a47c-b2799d224f5b g.chr10:75277120G>C ENST00000339859.4 - 19 3164 c.3064C>G c.(3064-3066)Caa>Gaa p.Q1022E RP11-137L10.6_ENST00000597958.1_RNA|USP54_ENST00000497106.1_5'UTR|RP11-137L10.6_ENST00000595069.1_RNA|USP54_ENST00000428547.1_Missense_Mutation_p.Q872E|USP54_ENST00000422491.2_Missense_Mutation_p.Q204E|RP11-137L10.6_ENST00000593790.1_RNA|RP11-137L10.6_ENST00000600206.1_RNA|USP54_ENST00000408019.1_Missense_Mutation_p.Q1022E|USP54_ENST00000394811.2_Missense_Mutation_p.Q110E Q70EL1 UBP54_HUMAN ubiquitin specific peptidase 54 1022 ubiquitin-dependent protein catabolic process protein binding|ubiquitin thiolesterase activity p.Q1022E(1)|p.Q110E(1) breast(5)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(1) 30 Prostate(51;0.0112) AGCTGTTCTTGAGCAATGCCT 0.547000 33 71 0 0 1 0 0 ERCC2 2068 broad.mit.edu 37 19 45856034 45856034 + Silent SNP G G C TCGA-E7-A97P-01A-11D-A38G-08 TCGA-E7-A97P-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18b5c355-e247-4694-9d46-770aa838190c 22cf4b93-69d7-44aa-a47c-b2799d224f5b g.chr19:45856034G>C ENST00000391945.4 - 20 1949 c.1872C>G c.(1870-1872)ccC>ccG p.P624P ERCC2_ENST00000391944.3_Silent_p.P546P NM_000400.3 NP_000391.1 P18074 ERCC2_HUMAN excision repair cross-complementing rodent repair deficiency, complementation group 2 624 Mediates interaction with MMS19. cell cycle checkpoint|chromosome segregation|hair cell differentiation|induction of apoptosis|interspecies interaction between organisms|mRNA capping|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein phosphorylation|response to oxidative stress|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|UV protection|viral reproduction cytoplasm|holo TFIIH complex|MMXD complex 5'-3' DNA helicase activity|ATP binding|ATP-dependent DNA helicase activity|DNA binding|iron-sulfur cluster binding|metal ion binding|protein C-terminus binding|protein N-terminus binding large_intestine(4)|lung(2)|ovary(1)|pancreas(1)|stomach(1) 9 Ovarian(192;0.0728)|all_neural(266;0.112) OV - Ovarian serous cystadenocarcinoma(262;0.0226) TGTAGACGTAGGGGACGCCAA 0.622000 """Mis, N, F, S""" """skin basal cell, skin squamous cell, melanoma""" Nucleotide excision repair (NER) Xeroderma Pigmentosum 5 67 0 0 1 0 0 YY1 7528 broad.mit.edu 37 14 100705714 100705714 + Nonsense_Mutation SNP G G T TCGA-E7-A97P-01A-11D-A38G-08 TCGA-E7-A97P-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18b5c355-e247-4694-9d46-770aa838190c 22cf4b93-69d7-44aa-a47c-b2799d224f5b g.chr14:100705714G>T ENST00000262238.4 + 1 393 c.133G>T c.(133-135)Gag>Tag p.E45* NM_003403.3 NP_003394.1 P25490 TYY1_HUMAN YY1 transcription factor 45 Asp/Glu-rich (acidic). cell differentiation|cellular response to UV|double-strand break repair via homologous recombination|negative regulation of transcription from RNA polymerase II promoter|response to UV-C|spermatogenesis Ino80 complex|nuclear matrix|plasma membrane four-way junction DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|transcription regulatory region DNA binding|zinc ion binding cervix(1)|endometrium(1)|large_intestine(1)|liver(2)|lung(1)|prostate(4)|skin(1) 11 Melanoma(154;0.152) gggcgaggaggaggaggagga 0.711000 5 13 0.014758 0.0149139 1 1 0 CAMK2B 816 broad.mit.edu 37 7 44282882 44282882 + Missense_Mutation SNP C C A TCGA-E7-A97P-01A-11D-A38G-08 TCGA-E7-A97P-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18b5c355-e247-4694-9d46-770aa838190c 22cf4b93-69d7-44aa-a47c-b2799d224f5b g.chr7:44282882C>A ENST00000395749.2 - 8 644 c.568G>T c.(568-570)Gcg>Tcg p.A190S CAMK2B_ENST00000347193.4_Missense_Mutation_p.A190S|CAMK2B_ENST00000457475.1_Missense_Mutation_p.A190S|CAMK2B_ENST00000258682.6_Missense_Mutation_p.A190S|CAMK2B_ENST00000440254.2_Missense_Mutation_p.A190S|CAMK2B_ENST00000358707.3_Missense_Mutation_p.A190S|CAMK2B_ENST00000502837.2_Missense_Mutation_p.A61S|CAMK2B_ENST00000346990.4_Missense_Mutation_p.A190S|CAMK2B_ENST00000350811.3_Missense_Mutation_p.A190S|CAMK2B_ENST00000395747.2_Missense_Mutation_p.A190S|CAMK2B_ENST00000353625.4_Missense_Mutation_p.A190S NM_001220.4 NP_001211.3 Q13554 KCC2B_HUMAN calcium/calmodulin-dependent protein kinase II beta 190 Protein kinase. interferon-gamma-mediated signaling pathway|synaptic transmission cytosol|endocytic vesicle membrane|nucleoplasm|plasma membrane ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1) 18 TTGCCATACGCCTCTTTGCGA 0.617000 5 37 0.0215528 0.021704 1 1 0 TUBG2 27175 broad.mit.edu 37 17 40818353 40818353 + Silent SNP C C T rs523338 TCGA-E7-A97P-01A-11D-A38G-08 TCGA-E7-A97P-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18b5c355-e247-4694-9d46-770aa838190c 22cf4b93-69d7-44aa-a47c-b2799d224f5b g.chr17:40818353C>T ENST00000251412.7 + 10 1208 c.1009C>T c.(1009-1011)Ctg>Ttg p.L337L NM_016437.2 NP_057521.1 Q9NRH3 TBG2_HUMAN tubulin, gamma 2 337 G2/M transition of mitotic cell cycle|microtubule-based process|protein polymerization cytosol GTP binding|GTPase activity|structural molecule activity p.L337L(1) central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1) 15 Breast(137;0.00116) BRCA - Breast invasive adenocarcinoma(366;0.141) CCACAAGAGCCTGCAGAGGAT 0.672000 4 35 0 0 1 0 0 MTMR6 9107 broad.mit.edu 37 13 25823472 25823472 + Missense_Mutation SNP G G T TCGA-E7-A97P-01A-11D-A38G-08 TCGA-E7-A97P-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18b5c355-e247-4694-9d46-770aa838190c 22cf4b93-69d7-44aa-a47c-b2799d224f5b g.chr13:25823472G>T ENST00000381801.5 - 14 2525 c.1764C>A c.(1762-1764)agC>agA p.S588R MTMR6_ENST00000540661.1_Intron NM_004685.3 NP_004676.3 Q9Y217 MTMR6_HUMAN myotubularin related protein 6 588 cytoplasm|nuclear envelope calcium-activated potassium channel activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity breast(2)|endometrium(3)|kidney(3)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(5)|stomach(3) 36 Lung SC(185;0.0225)|Breast(139;0.0351) all cancers(112;0.00927)|Epithelial(112;0.0474)|OV - Ovarian serous cystadenocarcinoma(117;0.164) CTGCCGGGCTGCTGCCCTCTA 0.428000 12 54 0.00010058 0.000106518 1 1 0 TRAK1 22906 broad.mit.edu 37 3 42236344 42236344 + Missense_Mutation SNP G G A TCGA-E7-A97P-01A-11D-A38G-08 TCGA-E7-A97P-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18b5c355-e247-4694-9d46-770aa838190c 22cf4b93-69d7-44aa-a47c-b2799d224f5b g.chr3:42236344G>A ENST00000327628.5 + 10 1424 c.1024G>A c.(1024-1026)Gag>Aag p.E342K TRAK1_ENST00000487159.1_3'UTR|TRAK1_ENST00000449246.1_Missense_Mutation_p.E268K|TRAK1_ENST00000396175.1_Missense_Mutation_p.E284K|TRAK1_ENST00000341421.3_Missense_Mutation_p.E284K NM_001042646.2 NP_001036111.1 Q9UPV9 TRAK1_HUMAN trafficking protein, kinesin binding 1 342 HAP1 N-terminal. endosome to lysosome transport|protein O-linked glycosylation|protein targeting|regulation of transcription from RNA polymerase II promoter early endosome|mitochondrion|nucleus central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|upper_aerodigestive_tract(2) 22 GATGCTGCATGAGGCGCAGGA 0.582000 4 18 0 0 1 0 0 DNMT3L 29947 broad.mit.edu 37 21 45680689 45680689 + Missense_Mutation SNP C C T TCGA-E7-A97P-01A-11D-A38G-08 TCGA-E7-A97P-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18b5c355-e247-4694-9d46-770aa838190c 22cf4b93-69d7-44aa-a47c-b2799d224f5b g.chr21:45680689C>T ENST00000270172.3 - 3 623 c.140G>A c.(139-141)cGa>cAa p.R47Q DNMT3L_ENST00000418993.1_Missense_Mutation_p.R47Q NM_013369.3 NP_037501.2 Q9UJW3 DNM3L_HUMAN DNA (cytosine-5-)-methyltransferase 3-like 47 ADD. DNA methylation|negative regulation of transcription, DNA-dependent|regulation of gene expression by genetic imprinting|spermatogenesis cytosol enzyme activator activity|enzyme binding|metal ion binding endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(3) 11 Colorectal(79;0.0165)|READ - Rectum adenocarcinoma(84;0.0781) TTCTATATTTCGCTGGTTAGC 0.453000 4 132 0 0 1 0 0 ABI3BP 25890 broad.mit.edu 37 3 100617628 100617628 + Missense_Mutation SNP G G A TCGA-E7-A97P-01A-11D-A38G-08 TCGA-E7-A97P-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18b5c355-e247-4694-9d46-770aa838190c 22cf4b93-69d7-44aa-a47c-b2799d224f5b g.chr3:100617628G>A ENST00000471714.1 - 4 569 c.460C>T c.(460-462)Cca>Tca p.P154S ABI3BP_ENST00000495063.1_Missense_Mutation_p.P154S|ABI3BP_ENST00000284322.5_Missense_Mutation_p.P154S Q7Z7G0 TARSH_HUMAN ABI family, member 3 (NESH) binding protein 154 Fibronectin type-III 1. extracellular space p.P154T(1) central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 50 CAGTGACTTGGCAATGTCCAG 0.458000 9 37 0 0 1 0 0 FBXL7 23194 broad.mit.edu 37 5 15936981 15936981 + Missense_Mutation SNP G G T TCGA-E7-A97P-01A-11D-A38G-08 TCGA-E7-A97P-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18b5c355-e247-4694-9d46-770aa838190c 22cf4b93-69d7-44aa-a47c-b2799d224f5b g.chr5:15936981G>T ENST00000504595.1 + 4 1643 c.1162G>T c.(1162-1164)Ggc>Tgc p.G388C FBXL7_ENST00000510662.1_Missense_Mutation_p.G341C|FBXL7_ENST00000329673.7_Missense_Mutation_p.G376C NM_001278317.1|NM_012304.3 NP_001265246.1|NP_036436.1 Q9UJT9 FBXL7_HUMAN F-box and leucine-rich repeat protein 7 388 ubiquitin-dependent protein catabolic process ubiquitin ligase complex protein binding|ubiquitin-protein ligase activity p.G388C(1) cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(13)|lung(33)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 60 GGGCTGCGAGGGCATCACGGA 0.622000 5 22 0.000602214 0.00061727 1 1 0 C1QL3 389941 broad.mit.edu 37 10 16562644 16562644 + Missense_Mutation SNP C C T TCGA-E7-A97P-01A-11D-A38G-08 TCGA-E7-A97P-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18b5c355-e247-4694-9d46-770aa838190c 22cf4b93-69d7-44aa-a47c-b2799d224f5b g.chr10:16562644C>T ENST00000298943.3 - 1 1360 c.421G>A c.(421-423)Gag>Aag p.E141K NM_001010908.1 NP_001010908.1 Q5VWW1 C1QL3_HUMAN complement component 1, q subcomponent-like 3 141 C1q. collagen breast(1)|endometrium(3)|kidney(1)|lung(4)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 13 TTGAGCACCTCGTAGCCTTCA 0.642000 14 63 0 0 1 0 0 ZNF737 100129842 broad.mit.edu 37 19 20728764 20728764 + Missense_Mutation SNP G G A TCGA-E7-A97P-01A-11D-A38G-08 TCGA-E7-A97P-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18b5c355-e247-4694-9d46-770aa838190c 22cf4b93-69d7-44aa-a47c-b2799d224f5b g.chr19:20728764G>A ENST00000427401.4 - 4 339 c.245C>T c.(244-246)gCc>gTc p.A82V NM_001159293.1 NP_001152765.1 C9JHM3 C9JHM3_HUMAN zinc finger protein 737 82 regulation of transcription, DNA-dependent intracellular nucleic acid binding|zinc ion binding breast(2)|kidney(1)|lung(7)|ovary(1)|stomach(1)|urinary_tract(1) 13 AAGATCTCGGGCAAAATGAGA 0.318000 6 36 0 0 1 0 0 IPO11 51194 broad.mit.edu 37 5 61887442 61887442 + Missense_Mutation SNP C C T TCGA-E7-A97P-01A-11D-A38G-08 TCGA-E7-A97P-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18b5c355-e247-4694-9d46-770aa838190c 22cf4b93-69d7-44aa-a47c-b2799d224f5b g.chr5:61887442C>T ENST00000325324.6 + 28 2790 c.2621C>T c.(2620-2622)tCa>tTa p.S874L IPO11_ENST00000409296.3_Missense_Mutation_p.S914L|IPO11_ENST00000409534.1_5'UTR NM_016338.4 NP_057422.3 Q9UI26 IPO11_HUMAN importin 11 874 cytoplasm|nucleus protein binding endometrium(2)|kidney(3)|large_intestine(5)|lung(14)|skin(4)|stomach(2) 30 Lung NSC(810;8.99e-06)|Prostate(74;0.0235)|Ovarian(174;0.0511)|Breast(144;0.077) Lung(70;0.0613) ATAAACATTTCAGTAGAAGGC 0.318000 3 41 0 0 1 0 0 ADAMTS4 9507 broad.mit.edu 37 1 161166023 161166023 + Missense_Mutation SNP C C G TCGA-E7-A97P-01A-11D-A38G-08 TCGA-E7-A97P-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18b5c355-e247-4694-9d46-770aa838190c 22cf4b93-69d7-44aa-a47c-b2799d224f5b g.chr1:161166023C>G ENST00000367996.5 - 3 1456 c.1028G>C c.(1027-1029)cGg>cCg p.R343P ADAMTS4_ENST00000367995.3_3'UTR NM_005099.4 NP_005090.3 O75173 ATS4_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 4 Peptidase M12B. proteolysis|skeletal system development extracellular space|proteinaceous extracellular matrix metalloendopeptidase activity|protease binding|zinc ion binding p.R343Q(2) central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(20)|ovary(4)|prostate(3)|skin(1)|urinary_tract(1) 43 all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00275) GGCACAGCTCCGAGCCGGGTC 0.562000 10 36 0 0 1 0 0 VEGFC 7424 broad.mit.edu 37 4 177605147 177605147 + Missense_Mutation SNP C C T TCGA-E7-A97P-01A-11D-A38G-08 TCGA-E7-A97P-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18b5c355-e247-4694-9d46-770aa838190c 22cf4b93-69d7-44aa-a47c-b2799d224f5b g.chr4:177605147C>T ENST00000280193.2 - 7 1608 c.1193G>A c.(1192-1194)gGa>gAa p.G398E RP11-313E19.2_ENST00000504017.1_RNA|RP11-313E19.2_ENST00000509194.1_RNA NM_005429.2 NP_005420 P49767 VEGFC_HUMAN vascular endothelial growth factor C 398 angiogenesis|induction of positive chemotaxis|platelet activation|platelet degranulation|positive regulation of cell division|positive regulation of mast cell chemotaxis|substrate-dependent cell migration|vascular endothelial growth factor receptor signaling pathway membrane|platelet alpha granule lumen chemoattractant activity|growth factor activity biliary_tract(1)|cervix(1)|large_intestine(6)|lung(28)|pancreas(1)|prostate(2)|skin(2) 41 Breast(14;0.000223)|Renal(120;0.00988)|Prostate(90;0.00996)|Melanoma(52;0.0101)|all_hematologic(60;0.107)|all_neural(102;0.164) all cancers(43;1.59e-18)|Epithelial(43;3.68e-16)|OV - Ovarian serous cystadenocarcinoma(60;8.52e-09)|GBM - Glioblastoma multiforme(59;0.000546)|STAD - Stomach adenocarcinoma(60;0.00308)|Colorectal(24;0.025)|COAD - Colon adenocarcinoma(29;0.0359)|LUSC - Lung squamous cell carcinoma(193;0.0397) ATATGAAAATCCTGGCTCACA 0.413000 19 75 0 0 1 0 0 DUSP27 92235 broad.mit.edu 37 1 167096885 167096885 + Silent SNP G G A TCGA-E7-A97P-01A-11D-A38G-08 TCGA-E7-A97P-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18b5c355-e247-4694-9d46-770aa838190c 22cf4b93-69d7-44aa-a47c-b2799d224f5b g.chr1:167096885G>A ENST00000361200.2 + 6 2683 c.2517G>A c.(2515-2517)aaG>aaA p.K839K DUSP27_ENST00000271385.5_Silent_p.K839K|DUSP27_ENST00000485151.1_Intron|DUSP27_ENST00000443333.1_Silent_p.K839K Q5VZP5 DUS27_HUMAN dual specificity phosphatase 27 (putative) 839 protein dephosphorylation protein tyrosine/serine/threonine phosphatase activity NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3) 89 TTGGCCGGAAGGAGAAGGAGA 0.512000 11 47 0 0 1 0 0 NLRP8 126205 broad.mit.edu 37 19 56466879 56466879 + Silent SNP C C A TCGA-E7-A97P-01A-11D-A38G-08 TCGA-E7-A97P-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18b5c355-e247-4694-9d46-770aa838190c 22cf4b93-69d7-44aa-a47c-b2799d224f5b g.chr19:56466879C>A ENST00000291971.3 + 3 1526 c.1455C>A c.(1453-1455)acC>acA p.T485T NLRP8_ENST00000590542.1_Silent_p.T485T NM_176811.2 NP_789781.2 Q86W28 NALP8_HUMAN NLR family, pyrin domain containing 8 485 NACHT. cytoplasm ATP binding breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2) 35 Colorectal(82;0.000147)|Ovarian(87;0.17) GBM - Glioblastoma multiforme(193;0.0695) CGGGAGTCACCGCCTTCCTTG 0.488000 27 106 4.59853e-10 5.15538e-10 1 1 0 PFKFB3 5209 broad.mit.edu 37 10 6258109 6258109 + Missense_Mutation SNP G G T TCGA-E7-A97P-01A-11D-A38G-08 TCGA-E7-A97P-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18b5c355-e247-4694-9d46-770aa838190c 22cf4b93-69d7-44aa-a47c-b2799d224f5b g.chr10:6258109G>T ENST00000379775.4 + 4 651 c.321G>T c.(319-321)ttG>ttT p.L107F PFKFB3_ENST00000379785.1_Missense_Mutation_p.L107F|PFKFB3_ENST00000536985.1_Missense_Mutation_p.L87F|PFKFB3_ENST00000360521.2_Missense_Mutation_p.L107F|PFKFB3_ENST00000317350.4_Missense_Mutation_p.L107F|PFKFB3_ENST00000540253.1_Missense_Mutation_p.L121F|PFKFB3_ENST00000379782.3_Missense_Mutation_p.L107F|PFKFB3_ENST00000379789.4_Missense_Mutation_p.L87F NM_004566.3 NP_004557.1 Q16875 F263_HUMAN 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 3 107 6-phosphofructo-2-kinase. fructose 2,6-bisphosphate metabolic process|glycolysis cytosol 6-phosphofructo-2-kinase activity|ATP binding|fructose-2,6-bisphosphate 2-phosphatase activity|identical protein binding central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(1)|liver(2)|lung(10)|ovary(3)|upper_aerodigestive_tract(1) 22 TAGCTGCCTTGAGAGATGTCA 0.592000 21 111 1.22574e-08 1.34784e-08 1 1 0 GNA11 2767 broad.mit.edu 37 19 3110265 3110265 + Silent SNP C C T rs140204057 by1000genomes TCGA-E7-A97P-01A-11D-A38G-08 TCGA-E7-A97P-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18b5c355-e247-4694-9d46-770aa838190c 22cf4b93-69d7-44aa-a47c-b2799d224f5b g.chr19:3110265C>T ENST00000078429.4 + 2 497 c.255C>T c.(253-255)acC>acT p.T85T NM_002067.2 NP_002058.2 P29992 GNA11_HUMAN guanine nucleotide binding protein (G protein), alpha 11 (Gq class) 85 activation of phospholipase C activity by dopamine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|platelet activation|protein ADP-ribosylation|regulation of action potential cytoplasm|heterotrimeric G-protein complex G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity endometrium(2)|eye(132)|kidney(1)|large_intestine(2)|lung(1)|meninges(5)|ovary(1)|prostate(1)|skin(16) 161 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.79e-05)|OV - Ovarian serous cystadenocarcinoma(105;2.68e-113)|Epithelial(107;1.22e-111)|all cancers(105;5.78e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00141)|STAD - Stomach adenocarcinoma(1328;0.181) ACATCTTCACCGCCATGCAGG 0.617000 Mis uveal melanoma 8 33 0 0 1 0 0 GPR133 283383 broad.mit.edu 37 12 131466498 131466498 + Missense_Mutation SNP G G T TCGA-E7-A97P-01A-11D-A38G-08 TCGA-E7-A97P-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18b5c355-e247-4694-9d46-770aa838190c 22cf4b93-69d7-44aa-a47c-b2799d224f5b g.chr12:131466498G>T ENST00000261654.5 + 5 939 c.380G>T c.(379-381)gGa>gTa p.G127V GPR133_ENST00000535015.1_Missense_Mutation_p.G159V NM_198827.3 NP_942122.2 Q6QNK2 GP133_HUMAN G protein-coupled receptor 133 127 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity NS(2)|breast(2)|endometrium(6)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|pancreas(6)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4) 67 all_neural(191;0.0982)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06) GCGTATGGGGGACAGGTCATC 0.507000 17 94 1.33834e-09 1.48302e-09 1 1 0 AREL1 9870 broad.mit.edu 37 14 75142407 75142407 + Missense_Mutation SNP G G A TCGA-E7-A97P-01A-11D-A38G-08 TCGA-E7-A97P-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18b5c355-e247-4694-9d46-770aa838190c 22cf4b93-69d7-44aa-a47c-b2799d224f5b g.chr14:75142407G>A ENST00000356357.4 - 8 1590 c.1075C>T c.(1075-1077)Cca>Tca p.P359S AREL1_ENST00000557401.1_5'UTR NM_001039479.1 NP_001034568.1 apoptosis resistant E3 ubiquitin protein ligase 1 CCAACCTTTGGTGACACATAG 0.478000 31 368 0 0 1 0 0 KIF5A 3798 broad.mit.edu 37 12 57965104 57965104 + Splice_Site SNP G G A TCGA-E7-A97P-01A-11D-A38G-08 TCGA-E7-A97P-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18b5c355-e247-4694-9d46-770aa838190c 22cf4b93-69d7-44aa-a47c-b2799d224f5b g.chr12:57965104G>A ENST00000455537.2 + 13 1568 c.1294G>A c.(1294-1296)Gat>Aat p.D432N KIF5A_ENST00000286452.5_Splice_Site_p.D343N NM_004984.2 NP_004975.2 Q12840 KIF5A_HUMAN kinesin family member 5A 432 blood coagulation|cell death|microtubule-based movement|synaptic transmission cytosol|kinesin complex|membrane fraction|microtubule|perinuclear region of cytoplasm ATP binding|microtubule motor activity breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(32)|ovary(2)|prostate(2)|skin(2) 62 CCTCCAACAGGATGATGAAAT 0.478000 14 21 0 0 1 0 0 ZNF300 91975 broad.mit.edu 37 5 150276496 150276496 + Missense_Mutation SNP A A G TCGA-E7-A97P-01A-11D-A38G-08 TCGA-E7-A97P-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18b5c355-e247-4694-9d46-770aa838190c 22cf4b93-69d7-44aa-a47c-b2799d224f5b g.chr5:150276496A>G ENST00000446148.2 - 7 780 c.353T>C c.(352-354)tTg>tCg p.L118S ZNF300_ENST00000274599.5_Missense_Mutation_p.L102S|ZNF300_ENST00000418587.2_Missense_Mutation_p.L66S|ZNF300_ENST00000427179.1_3'UTR|ZNF300_ENST00000394226.2_Missense_Mutation_p.L102S NM_001172831.1 NP_001166302.1 Q96RE9 ZN300_HUMAN zinc finger protein 300 102 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(4)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2) 27 Medulloblastoma(196;0.109)|all_hematologic(541;0.131) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) AACTGTCCCCAAAATACATGA 0.393000 16 60 0 0 1 0 0 NAGA 4668 broad.mit.edu 37 22 42463220 42463220 + Silent SNP G G A TCGA-E7-A97P-01A-11D-A38G-08 TCGA-E7-A97P-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18b5c355-e247-4694-9d46-770aa838190c 22cf4b93-69d7-44aa-a47c-b2799d224f5b g.chr22:42463220G>A ENST00000396398.3 - 4 931 c.399C>T c.(397-399)acC>acT p.T133T NAGA_ENST00000403363.1_Silent_p.T133T|NAGA_ENST00000402937.1_Silent_p.T133T NM_000262.2 NP_000253.1 P17050 NAGAB_HUMAN N-acetylgalactosaminidase, alpha- 133 glycoside catabolic process|glycosylceramide catabolic process|oligosaccharide metabolic process lysosome alpha-galactosidase activity|alpha-N-acetylgalactosaminidase activity|cation binding|protein homodimerization activity central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1) 11 TGTCCAGTGTGGTGCCTGGGT 0.607000 35 128 0 0 1 0 0 CYP3A7 1551 broad.mit.edu 37 7 99312265 99312265 + Silent SNP A A G TCGA-E7-A97P-01A-11D-A38G-08 TCGA-E7-A97P-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18b5c355-e247-4694-9d46-770aa838190c 22cf4b93-69d7-44aa-a47c-b2799d224f5b g.chr7:99312265A>G ENST00000336374.2 - 8 713 c.711T>C c.(709-711)aaT>aaC p.N237N NM_000765.3 NP_000756.2 P24462 CP3A7_HUMAN cytochrome P450, family 3, subfamily A, polypeptide 7 237 xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|electron carrier activity|heme binding|oxygen binding autonomic_ganglia(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(4)|upper_aerodigestive_tract(1) 32 Lung NSC(181;0.0144)|Esophageal squamous(72;0.0166)|all_lung(186;0.0228) ACACAGTGATATTTAATGCTT 0.333000 17 82 0 0 1 0 0 FANCA 2175 broad.mit.edu 37 16 89805631 89805631 + Missense_Mutation SNP G G C TCGA-E7-A97P-01A-11D-A38G-08 TCGA-E7-A97P-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18b5c355-e247-4694-9d46-770aa838190c 22cf4b93-69d7-44aa-a47c-b2799d224f5b g.chr16:89805631G>C ENST00000389301.3 - 41 4107 c.4077C>G c.(4075-4077)gaC>gaG p.D1359E FANCA_ENST00000568369.1_Missense_Mutation_p.D1359E|ZNF276_ENST00000289816.5_3'UTR NM_000135.2 NP_000126.2 O15360 FANCA_HUMAN Fanconi anemia, complementation group A 1359 D -> Y (in FA). DNA repair|protein complex assembly cytoplasm|nucleoplasm protein binding breast(5)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|urinary_tract(3) 47 Lung NSC(15;8.48e-06)|all_lung(18;1.31e-05)|all_hematologic(23;0.0194) BRCA - Breast invasive adenocarcinoma(80;0.028) TCAAGTACATGTCCACAGCAA 0.537000 """D, Mis, N, F, S""" """AML, leukemia""" Involved in tolerance or repair of DNA crosslinks Fanconi Anemia 12 28 0 0 1 0 0 NUP160 23279 broad.mit.edu 37 11 47869415 47869415 + Missense_Mutation SNP T T C TCGA-E7-A97P-01A-11D-A38G-08 TCGA-E7-A97P-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18b5c355-e247-4694-9d46-770aa838190c 22cf4b93-69d7-44aa-a47c-b2799d224f5b g.chr11:47869415T>C ENST00000378460.2 - 2 345 c.299A>G c.(298-300)aAc>aGc p.N100S NUP160_ENST00000530326.1_5'UTR|NUP160_ENST00000526870.1_Missense_Mutation_p.N100S|NUP160_ENST00000532747.1_Missense_Mutation_p.N66S NM_015231.1 NP_056046.1 Q12769 NU160_HUMAN nucleoporin 160kDa 100 carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA export from nucleus|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction cytosol|Nup107-160 complex nucleocytoplasmic transporter activity|protein binding NS(1)|biliary_tract(2)|breast(7)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(15)|ovary(6)|prostate(2)|skin(2)|urinary_tract(2) 53 AATGAACCTGTTTCTGGTTAC 0.493000 8 51 0 0 1 0 0 AKNA 80709 broad.mit.edu 37 9 117108961 117108961 + Nonsense_Mutation SNP G G A TCGA-E7-A97P-01A-11D-A38G-08 TCGA-E7-A97P-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18b5c355-e247-4694-9d46-770aa838190c 22cf4b93-69d7-44aa-a47c-b2799d224f5b g.chr9:117108961G>A ENST00000307564.4 - 17 3663 c.3502C>T c.(3502-3504)Cga>Tga p.R1168* AKNA_ENST00000374075.5_Nonsense_Mutation_p.R1087*|AKNA_ENST00000223791.3_Nonsense_Mutation_p.R628*|AKNA_ENST00000492875.1_5'UTR|AKNA_ENST00000374088.3_Nonsense_Mutation_p.R1168*|AKNA_ENST00000374079.4_Nonsense_Mutation_p.R113* NM_030767.4 NP_110394.3 Q7Z591 AKNA_HUMAN AT-hook transcription factor 1168 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding breast(3)|central_nervous_system(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(7)|liver(2)|lung(22)|ovary(4)|stomach(2) 51 AGGGACAGTCGGAGCACCTCC 0.562000 12 19 0 0 1 0 0 ZNF536 9745 broad.mit.edu 37 19 31039609 31039609 + Missense_Mutation SNP C C T TCGA-E7-A97P-01A-11D-A38G-08 TCGA-E7-A97P-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18b5c355-e247-4694-9d46-770aa838190c 22cf4b93-69d7-44aa-a47c-b2799d224f5b g.chr19:31039609C>T ENST00000355537.3 + 4 3230 c.3083C>T c.(3082-3084)gCg>gTg p.A1028V NM_014717.1 NP_055532.1 O15090 ZN536_HUMAN zinc finger protein 536 1028 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus zinc ion binding NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3) 182 Esophageal squamous(110;0.0834) CTGGGCAAAGCGAAACGCAAA 0.542000 23 61 0 0 1 0 0 USP15 9958 broad.mit.edu 37 12 62777939 62777939 + Silent SNP A A G TCGA-E7-A97P-01A-11D-A38G-08 TCGA-E7-A97P-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18b5c355-e247-4694-9d46-770aa838190c 22cf4b93-69d7-44aa-a47c-b2799d224f5b g.chr12:62777939A>G ENST00000280377.5 + 11 1387 c.1329A>G c.(1327-1329)aaA>aaG p.K443K USP15_ENST00000353364.3_Silent_p.K414K|USP15_ENST00000393654.3_Silent_p.K418K NM_001252078.1 NP_001239007.1 Q9Y4E8 UBP15_HUMAN ubiquitin specific peptidase 15 443 protein deubiquitination|ubiquitin-dependent protein catabolic process cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(15)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1) 37 GBM - Glioblastoma multiforme(1;0.000276) GBM - Glioblastoma multiforme(28;0.0622) GCCTTTTCAAATCAACTTTAG 0.368000 7 42 0 0 1 0 0 MPPED2 744 broad.mit.edu 37 11 30557541 30557541 + Splice_Site SNP C C G TCGA-E7-A97P-01A-11D-A38G-08 TCGA-E7-A97P-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18b5c355-e247-4694-9d46-770aa838190c 22cf4b93-69d7-44aa-a47c-b2799d224f5b g.chr11:30557541C>G ENST00000448418.2 - 3 670 c.310G>C c.(310-312)Gga>Cga p.G104R MPPED2_ENST00000358117.5_Splice_Site_p.G104R NM_001145399.1 NP_001138871.1 Q15777 MPPD2_HUMAN metallophosphoesterase domain containing 2 104 nervous system development hydrolase activity|metal ion binding NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|liver(1)|lung(15)|skin(2)|upper_aerodigestive_tract(2) 33 CATTCCTTACCTAACCAGTCA 0.502000 6 26 0 0 1 0 0 SLC26A9 115019 broad.mit.edu 37 1 205902136 205902136 + Missense_Mutation SNP T T C TCGA-E7-A97P-01A-11D-A38G-08 TCGA-E7-A97P-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18b5c355-e247-4694-9d46-770aa838190c 22cf4b93-69d7-44aa-a47c-b2799d224f5b g.chr1:205902136T>C ENST00000367135.3 - 3 315 c.202A>G c.(202-204)Aaa>Gaa p.K68E SLC26A9_ENST00000367134.2_Missense_Mutation_p.K68E|SLC26A9_ENST00000340781.4_Missense_Mutation_p.K68E NM_052934.3 NP_443166.1 Q7LBE3 S26A9_HUMAN solute carrier family 26 (anion exchanger), member 9 68 integral to membrane chloride channel activity|secondary active sulfate transmembrane transporter activity NS(1)|breast(3)|endometrium(11)|kidney(1)|large_intestine(6)|lung(17)|ovary(1)|skin(7)|urinary_tract(5) 52 Breast(84;0.201) BRCA - Breast invasive adenocarcinoma(75;0.0458) ATGTAGTCTTTAATCTTGTAC 0.552000 8 28 0 0 1 0 0 PLXNB2 23654 broad.mit.edu 37 22 50720089 50720089 + Missense_Mutation SNP G G A TCGA-E7-A97P-01A-11D-A38G-08 TCGA-E7-A97P-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18b5c355-e247-4694-9d46-770aa838190c 22cf4b93-69d7-44aa-a47c-b2799d224f5b g.chr22:50720089G>A ENST00000449103.1 - 21 3568 c.3428C>T c.(3427-3429)aCg>aTg p.T1143M PLXNB2_ENST00000359337.4_Missense_Mutation_p.T1143M O15031 PLXB2_HUMAN plexin B2 1143 regulation of small GTPase mediated signal transduction integral to membrane|intracellular GTPase activator activity|protein binding|receptor activity p.T1186M(1) breast(2)|central_nervous_system(4)|cervix(2)|endometrium(11)|kidney(4)|large_intestine(3)|liver(1)|lung(20)|ovary(5)|prostate(6)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2) 66 all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113) BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247) GTCGGTCTCCGTCAGCGTCTT 0.657000 8 36 0 0 1 0 0 F2R 2149 broad.mit.edu 37 5 76029019 76029019 + Silent SNP C C T TCGA-E7-A97P-01A-11D-A38G-08 TCGA-E7-A97P-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18b5c355-e247-4694-9d46-770aa838190c 22cf4b93-69d7-44aa-a47c-b2799d224f5b g.chr5:76029019C>T ENST00000319211.4 + 2 1234 c.969C>T c.(967-969)atC>atT p.I323I NM_001992.3 NP_001983.2 P25116 PAR1_HUMAN coagulation factor II (thrombin) receptor 323 activation of caspase activity|anatomical structure morphogenesis|connective tissue replacement involved in inflammatory response wound healing|negative regulation of cell proliferation|platelet activation|positive regulation of blood coagulation|positive regulation of cell migration|positive regulation of collagen biosynthetic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of JAK-STAT cascade|positive regulation of MAPKKK cascade|positive regulation of release of sequestered calcium ion into cytosol|positive regulation of transcription, DNA-dependent|STAT protein import into nucleus|tyrosine phosphorylation of STAT protein caveola|extracellular region|Golgi apparatus|integral to plasma membrane|platelet dense tubular network receptor binding|thrombin receptor activity NS(1)|breast(1)|endometrium(3)|kidney(1)|lung(7)|ovary(3) 16 all_lung(232;0.000414)|Lung NSC(167;0.0011)|Prostate(461;0.00955)|Ovarian(174;0.0129) all cancers(79;4.43e-43) Streptokinase(DB00086) GCATCTTCATCATTTGCTTCG 0.502000 5 71 0 0 1 0 0 RPRD2 23248 broad.mit.edu 37 1 150443138 150443138 + Missense_Mutation SNP A A G TCGA-E7-A97P-01A-11D-A38G-08 TCGA-E7-A97P-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18b5c355-e247-4694-9d46-770aa838190c 22cf4b93-69d7-44aa-a47c-b2799d224f5b g.chr1:150443138A>G ENST00000401000.4 + 10 1701 c.1636A>G c.(1636-1638)Acc>Gcc p.T546A RPRD2_ENST00000539519.1_Missense_Mutation_p.T546A|RPRD2_ENST00000369068.4_Missense_Mutation_p.T572A|RPRD2_ENST00000492220.1_3'UTR Q5VT52 RPRD2_HUMAN regulation of nuclear pre-mRNA domain containing 2 572 Ser-rich. protein binding central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 37 CACAGTCTCTACCATAAAGGG 0.478000 5 26 0 0 1 0 0 PSTK 118672 broad.mit.edu 37 10 124740062 124740062 + Missense_Mutation SNP C C G TCGA-E7-A97P-01A-11D-A38G-08 TCGA-E7-A97P-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18b5c355-e247-4694-9d46-770aa838190c 22cf4b93-69d7-44aa-a47c-b2799d224f5b g.chr10:124740062C>G ENST00000405485.1 + 1 133 c.67C>G c.(67-69)Ctc>Gtc p.L23V PSTK_ENST00000368887.3_Missense_Mutation_p.L23V Q8IV42 PSTK_HUMAN phosphoseryl-tRNA kinase 23 ATP binding|kinase activity endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(5)|skin(1)|stomach(2) 13 all_neural(114;0.169)|Glioma(114;0.222) Colorectal(40;0.0686)|COAD - Colon adenocarcinoma(40;0.0725) CCTCTGCGTCCTCTGTGGCCT 0.677000 OREG0020597 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 3 9 0 0 1 0 0 TM9SF1 10548 broad.mit.edu 37 14 24662252 24662252 + Missense_Mutation SNP T T C TCGA-E7-A97P-01A-11D-A38G-08 TCGA-E7-A97P-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18b5c355-e247-4694-9d46-770aa838190c 22cf4b93-69d7-44aa-a47c-b2799d224f5b g.chr14:24662252T>C ENST00000530611.1 - 7 1229 c.1196A>G c.(1195-1197)gAt>gGt p.D399G TM9SF1_ENST00000528669.1_Missense_Mutation_p.D190G|TM9SF1_ENST00000524835.1_Missense_Mutation_p.D103G|TM9SF1_ENST00000556387.1_Missense_Mutation_p.D399G|TM9SF1_ENST00000261789.4_Missense_Mutation_p.D190G|TM9SF1_ENST00000396854.4_Missense_Mutation_p.D190G O15321 TM9S1_HUMAN transmembrane 9 superfamily member 1 190 autophagy autophagic vacuole membrane|cytoplasmic vesicle|integral to membrane|lysosomal membrane NS(1)|breast(4)|endometrium(3)|large_intestine(11)|lung(4)|ovary(1) 24 GBM - Glioblastoma multiforme(265;0.0183) TCGTAACCCATCCAAGCTGTG 0.537000 14 42 0 0 1 0 0 MYBPC1 4604 broad.mit.edu 37 12 102040593 102040593 + Nonsense_Mutation SNP C C T TCGA-E7-A97P-01A-11D-A38G-08 TCGA-E7-A97P-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18b5c355-e247-4694-9d46-770aa838190c 22cf4b93-69d7-44aa-a47c-b2799d224f5b g.chr12:102040593C>T ENST00000549145.1 + 12 1082 c.982C>T c.(982-984)Cag>Tag p.Q328* MYBPC1_ENST00000550270.1_Nonsense_Mutation_p.Q315*|RP11-755O11.2_ENST00000552081.1_RNA|MYBPC1_ENST00000361466.2_Nonsense_Mutation_p.Q340*|RP11-755O11.2_ENST00000547027.1_RNA|MYBPC1_ENST00000541119.1_Nonsense_Mutation_p.Q303*|MYBPC1_ENST00000452455.2_Nonsense_Mutation_p.Q315*|MYBPC1_ENST00000536007.1_Nonsense_Mutation_p.Q296*|MYBPC1_ENST00000547405.1_Nonsense_Mutation_p.Q289*|MYBPC1_ENST00000547509.1_Nonsense_Mutation_p.Q301*|MYBPC1_ENST00000361685.2_Nonsense_Mutation_p.Q340*|MYBPC1_ENST00000550501.1_Intron|MYBPC1_ENST00000392934.3_Nonsense_Mutation_p.Q302*|MYBPC1_ENST00000545503.2_Nonsense_Mutation_p.Q315*|MYBPC1_ENST00000553190.1_Nonsense_Mutation_p.Q315*|MYBPC1_ENST00000551300.1_Nonsense_Mutation_p.Q216*|MYBPC1_ENST00000360610.2_Nonsense_Mutation_p.Q315*|MYBPC1_ENST00000441232.1_Nonsense_Mutation_p.Q315* Q00872 MYPC1_HUMAN myosin binding protein C, slow type 315 Ig-like C2-type 2. cell adhesion|muscle filament sliding cytosol|myofibril|myosin filament actin binding|structural constituent of muscle|titin binding breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2) 57 CAATAACTGTCAGATGACAGA 0.358000 14 50 0 0 1 0 0 PDE5A 8654 broad.mit.edu 37 4 120463680 120463680 + Silent SNP C C T TCGA-E7-A97P-01A-11D-A38G-08 TCGA-E7-A97P-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18b5c355-e247-4694-9d46-770aa838190c 22cf4b93-69d7-44aa-a47c-b2799d224f5b g.chr4:120463680C>T ENST00000354960.3 - 10 1825 c.1506G>A c.(1504-1506)ggG>ggA p.G502G PDE5A_ENST00000264805.5_Silent_p.G460G|RP11-33B1.1_ENST00000498873.1_RNA|PDE5A_ENST00000512739.1_5'UTR|PDE5A_ENST00000394439.1_Silent_p.G450G NM_001083.3 NP_001074.2 O76074 PDE5A_HUMAN phosphodiesterase 5A, cGMP-specific 502 GAF 2. platelet activation|signal transduction cytosol 3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|zinc ion binding breast(4)|endometrium(2)|kidney(3)|large_intestine(8)|lung(7)|prostate(1)|skin(1)|urinary_tract(1) 27 Dipyridamole(DB00975)|Pentoxifylline(DB00806)|Sildenafil(DB00203)|Tadalafil(DB00820)|Theophylline(DB00277)|Vardenafil(DB00862) TGTTCTGGATCCCCAAGCCAC 0.458000 17 58 0 0 1 0 0 KHSRP 8570 broad.mit.edu 37 19 6418756 6418756 + Missense_Mutation SNP C C A TCGA-E7-A97P-01A-11D-A38G-08 TCGA-E7-A97P-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18b5c355-e247-4694-9d46-770aa838190c 22cf4b93-69d7-44aa-a47c-b2799d224f5b g.chr19:6418756C>A ENST00000398148.3 - 8 829 c.737G>T c.(736-738)gGc>gTc p.G246V NM_003685.2 NP_003676.2 Q92945 FUBP2_HUMAN KH-type splicing regulatory protein 246 Gly-rich.|KH 2. mRNA processing|mRNA transport|regulation of transcription, DNA-dependent|RNA splicing, via transesterification reactions|transcription, DNA-dependent cytosol|nucleus DNA binding|protein binding|RNA binding breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(3)|liver(1)|lung(6)|skin(1)|soft_tissue(1) 17 AATGACCAGGCCGGCCTTGCC 0.677000 8 50 0.000274275 0.000284177 1 1 0 ABCC10 89845 broad.mit.edu 37 6 43403613 43403613 + Missense_Mutation SNP C C G TCGA-E7-A97P-01A-11D-A38G-08 TCGA-E7-A97P-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18b5c355-e247-4694-9d46-770aa838190c 22cf4b93-69d7-44aa-a47c-b2799d224f5b g.chr6:43403613C>G ENST00000244533.3 + 3 1963 c.1604C>G c.(1603-1605)cCa>cGa p.P535R ABCC10_ENST00000372530.4_Missense_Mutation_p.P578R NM_033450.2 NP_258261.2 Q5T3U5 MRP7_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 10 578 ABC transmembrane type-1 1. integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(8)|lung(21)|ovary(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 56 all_lung(25;0.00536) Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804) CTCGACCTTCCAAACCACAAC 0.562000 25 57 0 0 1 0 0 UTP20 27340 broad.mit.edu 37 12 101750853 101750853 + Missense_Mutation SNP G G C TCGA-E7-A97P-01A-11D-A38G-08 TCGA-E7-A97P-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18b5c355-e247-4694-9d46-770aa838190c 22cf4b93-69d7-44aa-a47c-b2799d224f5b g.chr12:101750853G>C ENST00000261637.4 + 43 5858 c.5684G>C c.(5683-5685)gGa>gCa p.G1895A NM_014503.2 NP_055318.2 O75691 UTP20_HUMAN UTP20, small subunit (SSU) processome component, homolog (yeast) 1895 endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|negative regulation of cell proliferation 90S preribosome|cytoplasm|nucleolus|nucleoplasm|preribosome, small subunit precursor|small-subunit processome protein binding NS(3)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(26)|lung(30)|ovary(2)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 88 CTTGTCCGTGGATACCAGGTA 0.383000 6 48 0 0 1 0 0 NCCRP1 342897 broad.mit.edu 37 19 39691042 39691042 + Missense_Mutation SNP C C T TCGA-E7-A97P-01A-11D-A38G-08 TCGA-E7-A97P-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18b5c355-e247-4694-9d46-770aa838190c 22cf4b93-69d7-44aa-a47c-b2799d224f5b g.chr19:39691042C>T ENST00000339852.4 + 5 627 c.605C>T c.(604-606)gCg>gTg p.A202V NM_001001414.1 NP_001001414.1 Q6ZVX7 NCRP1_HUMAN non-specific cytotoxic cell receptor protein 1 homolog (zebrafish) 202 FBA. protein catabolic process kidney(1)|large_intestine(2)|liver(1)|lung(4)|ovary(1)|urinary_tract(1) 10 TGGCTGCTGGCGGCCGACCGC 0.672000 25 96 0 0 1 0 0 OR56B4 196335 broad.mit.edu 37 11 6129139 6129139 + Missense_Mutation SNP C C T TCGA-E7-A97P-01A-11D-A38G-08 TCGA-E7-A97P-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18b5c355-e247-4694-9d46-770aa838190c 22cf4b93-69d7-44aa-a47c-b2799d224f5b g.chr11:6129139C>T ENST00000316529.3 + 1 226 c.131C>T c.(130-132)gCt>gTt p.A44V NM_001005181.1 NP_001005181.1 Q8NH76 O56B4_HUMAN olfactory receptor, family 56, subfamily B, member 4 44 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|central_nervous_system(1)|endometrium(1)|lung(10)|skin(6)|urinary_tract(2) 21 Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114) Epithelial(150;1.31e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135) TACCTCTTAGCTCTTGGTGCC 0.502000 6 51 0 0 1 0 0 ADAMTS16 170690 broad.mit.edu 37 5 5232609 5232609 + Missense_Mutation SNP T T G TCGA-E7-A97P-01A-11D-A38G-08 TCGA-E7-A97P-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18b5c355-e247-4694-9d46-770aa838190c 22cf4b93-69d7-44aa-a47c-b2799d224f5b g.chr5:5232609T>G ENST00000274181.7 + 12 1968 c.1830T>G c.(1828-1830)agT>agG p.S610R NM_139056.2 NP_620687.2 Q8TE57 ATS16_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 16 610 TSP type-1 1. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 107 CTCATAGGAGTCGCCTCTGCA 0.562000 11 61 0 0 1 0 0 SRSF11 9295 broad.mit.edu 37 1 70687340 70687340 + Silent SNP C C T TCGA-E7-A97P-01A-11D-A38G-08 TCGA-E7-A97P-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18b5c355-e247-4694-9d46-770aa838190c 22cf4b93-69d7-44aa-a47c-b2799d224f5b g.chr1:70687340C>T ENST00000370950.3 + 2 103 c.21C>T c.(19-21)gtC>gtT p.V7V SRSF11_ENST00000370951.1_Silent_p.V7V|SRSF11_ENST00000405432.1_Silent_p.V7V|SRSF11_ENST00000436161.2_Silent_p.V7V|SRSF11_ENST00000454435.2_Silent_p.V7V Q05519 SRS11_HUMAN serine/arginine-rich splicing factor 11 7 mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription nucleoplasm nucleotide binding|protein binding|RNA binding large_intestine(3)|ovary(2)|skin(1) 6 CTACCGTCGTCCCCAGCACTG 0.637000 9 86 0 0 1 0 0 NUMA1 4926 broad.mit.edu 37 11 71714955 71714955 + Missense_Mutation SNP G G A TCGA-E7-A97P-01A-11D-A38G-08 TCGA-E7-A97P-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18b5c355-e247-4694-9d46-770aa838190c 22cf4b93-69d7-44aa-a47c-b2799d224f5b g.chr11:71714955G>A ENST00000393695.3 - 26 6645 c.6314C>T c.(6313-6315)gCc>gTc p.A2105V NUMA1_ENST00000351960.6_Missense_Mutation_p.A969V|NUMA1_ENST00000358965.6_Missense_Mutation_p.A2091V NM_006185.2 NP_006176.2 Q14980 NUMA1_HUMAN nuclear mitotic apparatus protein 1 2105 G2/M transition of mitotic cell cycle|mitotic anaphase|nucleus organization chromosome|cytosol|nucleoplasm|spindle microtubule|spindle pole protein binding|structural molecule activity central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(12)|lung(20)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3) 65 TCGAGGGGTGGCACCAATGGC 0.667000 T RARA APL 15 29 0 0 1 0 0 HRAS 3265 broad.mit.edu 37 11 534289 534289 + Missense_Mutation SNP C C T rs104894229 TCGA-E7-A97P-01A-11D-A38G-08 TCGA-E7-A97P-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18b5c355-e247-4694-9d46-770aa838190c 22cf4b93-69d7-44aa-a47c-b2799d224f5b g.chr11:534289C>T ENST00000417302.1 - 2 221 c.34G>A c.(34-36)Ggc>Agc p.G12S HRAS_ENST00000311189.7_Missense_Mutation_p.G12S|HRAS_ENST00000397596.2_Missense_Mutation_p.G12S|HRAS_ENST00000451590.1_Missense_Mutation_p.G12S|HRAS_ENST00000468682.2_5'UTR|HRAS_ENST00000397594.1_Missense_Mutation_p.G12S NM_176795.3 NP_789765.1 P01112 RASH_HUMAN Harvey rat sarcoma viral oncogene homolog 12 G -> A (in FCSS).|G -> C (in FCSS).|G -> E (in FCSS).|G -> S (in FCSS, OSCC and CMEMS).|G -> V (in FCSS, bladder carcinoma and CMEMS; constitutively activated; interacts and recruits PLCE1 to plasma membrane; loss of interaction with and recruitment to plasma membrane of PLCE1 when associated with F-32; loss of interaction with PLCE1 when associated with G-26, F-32 and S-35; no effect on interaction with PLCE1 when associated with A-29, G-34, G-37, N-38 and C-39; no effect on subcellular location of isoform 2). activation of MAPKK activity|axon guidance|blood coagulation|cell cycle arrest|cellular senescence|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|mitotic cell cycle G1/S transition checkpoint|negative regulation of cell proliferation|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of DNA replication|positive regulation of epithelial cell proliferation|Ras protein signal transduction|synaptic transmission cytosol|Golgi membrane|plasma membrane GTP binding|GTPase activity|protein C-terminus binding p.G12S(58)|p.G12C(25)|p.G12R(12) adrenal_gland(1)|bone(3)|breast(7)|cervix(23)|endometrium(4)|haematopoietic_and_lymphoid_tissue(12)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|oesophagus(2)|penis(2)|pituitary(10)|prostate(31)|salivary_gland(24)|skin(184)|soft_tissue(38)|stomach(14)|testis(5)|thymus(1)|thyroid(173)|upper_aerodigestive_tract(122)|urinary_tract(225) 901 all_cancers(49;4.37e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713) all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703) Sulindac(DB00605) CCCACACCGCCGGCGCCCACC 0.647000 6 Mis """infrequent sarcomas, rare other types""" """rhadomyosarcoma, ganglioneuroblastoma, bladder""" Costello syndrome HNSCC(11;0.0054) 4 31 0 0 1 0 0 AKAP11 11215 broad.mit.edu 37 13 42866627 42866627 + Missense_Mutation SNP A A G rs145333681 TCGA-E7-A97P-01A-11D-A38G-08 TCGA-E7-A97P-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18b5c355-e247-4694-9d46-770aa838190c 22cf4b93-69d7-44aa-a47c-b2799d224f5b g.chr13:42866627A>G ENST00000025301.2 + 4 333 c.158A>G c.(157-159)aAt>aGt p.N53S NM_016248.3 NP_057332.1 Q9UKA4 AKA11_HUMAN A kinase (PRKA) anchor protein 11 53 intracellular protein kinase cascade microtubule organizing center protein kinase A binding|protein phosphatase 1 binding breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(2) 56 Lung NSC(96;1.86e-05)|Prostate(109;0.0165)|Lung SC(185;0.0262)|Breast(139;0.0707)|Hepatocellular(98;0.114) OV - Ovarian serous cystadenocarcinoma(117;0.000365)|GBM - Glioblastoma multiforme(144;0.00116)|BRCA - Breast invasive adenocarcinoma(63;0.19) GAGCATGCCAATTTAACTGAG 0.363000 3 76 0 0 1 0 0 ARMCX2 9823 broad.mit.edu 37 X 100912483 100912483 + Missense_Mutation SNP C C T TCGA-E7-A97P-01A-11D-A38G-08 TCGA-E7-A97P-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18b5c355-e247-4694-9d46-770aa838190c 22cf4b93-69d7-44aa-a47c-b2799d224f5b g.chrX:100912483C>T ENST00000328766.5 - 5 545 c.92G>A c.(91-93)aGa>aAa p.R31K ARMCX2_ENST00000356824.4_Missense_Mutation_p.R31K|ARMCX2_ENST00000330154.2_Missense_Mutation_p.R31K|ARMCX2_ENST00000467416.1_5'UTR NM_014782.5 NP_055597.1 Q7L311 ARMX2_HUMAN armadillo repeat containing, X-linked 2 31 integral to membrane binding NS(1)|breast(4)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(6)|prostate(1)|skin(1) 29 GGTCTGGTCTCTCCCCCTGGT 0.592000 16 25 0 0 1 0 0 AMN1 196394 broad.mit.edu 37 12 31850846 31850846 + Missense_Mutation SNP G G C TCGA-E7-A97P-01A-11D-A38G-08 TCGA-E7-A97P-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18b5c355-e247-4694-9d46-770aa838190c 22cf4b93-69d7-44aa-a47c-b2799d224f5b g.chr12:31850846G>C ENST00000281471.6 - 4 527 c.362C>G c.(361-363)tCt>tGt p.S121C AMN1_ENST00000541931.1_5'UTR|AMN1_ENST00000537562.1_Missense_Mutation_p.S103C|AMN1_ENST00000536761.1_Missense_Mutation_p.S103C|AMN1_ENST00000542781.1_5'UTR NM_001113402.1|NM_001278411.1|NM_001278412.1 NP_001106873.1|NP_001265340.1|NP_001265341.1 Q8IY45 AMN1_HUMAN antagonist of mitotic exit network 1 homolog (S. cerevisiae) 121 breast(1)|endometrium(1)|large_intestine(2)|lung(1)|skin(1)|urinary_tract(1) 7 all_cancers(9;7.41e-12)|all_epithelial(9;1.18e-11)|all_lung(12;1.14e-10)|Acute lymphoblastic leukemia(23;0.0122)|Lung SC(12;0.0336)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.162) OV - Ovarian serous cystadenocarcinoma(6;0.0014) TCTTTTCAAAGAAGCTTCGTG 0.383000 12 50 0 0 1 0 0 CABLES1 91768 broad.mit.edu 37 18 20833798 20833798 + Missense_Mutation SNP A A T TCGA-E7-A97P-01A-11D-A38G-08 TCGA-E7-A97P-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18b5c355-e247-4694-9d46-770aa838190c 22cf4b93-69d7-44aa-a47c-b2799d224f5b g.chr18:20833798A>T ENST00000256925.7 + 9 1659 c.1659A>T c.(1657-1659)aaA>aaT p.K553N CABLES1_ENST00000420687.2_Missense_Mutation_p.K288N|CABLES1_ENST00000585061.1_Intron|TMEM241_ENST00000450466.2_Intron|CABLES1_ENST00000400473.2_Missense_Mutation_p.K226N NM_001100619.2 NP_001094089.1 Q8TDN4 CABL1_HUMAN Cdk5 and Abl enzyme substrate 1 553 blood coagulation|cell cycle|cell division|regulation of cell cycle|regulation of cell division cytosol|nucleus cyclin-dependent protein kinase regulator activity|protein binding breast(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|stomach(1) 11 all_cancers(21;0.000102)|all_epithelial(16;2.48e-06)|Lung NSC(20;0.00696)|all_lung(20;0.0197)|Colorectal(14;0.0202)|Ovarian(20;0.127) TCAAGGGGAAACTCAACAAAC 0.517000 10 46 0 0 1 0 0 MRPL37 51253 broad.mit.edu 37 1 54675780 54675780 + Missense_Mutation SNP A A G TCGA-E7-A97P-01A-11D-A38G-08 TCGA-E7-A97P-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18b5c355-e247-4694-9d46-770aa838190c 22cf4b93-69d7-44aa-a47c-b2799d224f5b g.chr1:54675780A>G ENST00000605337.1 + 4 856 c.808A>G c.(808-810)Att>Gtt p.I270V MRPL37_ENST00000360840.5_Missense_Mutation_p.I270V|MRPL37_ENST00000487096.1_3'UTR|MRPL37_ENST00000336230.6_Missense_Mutation_p.I139V Q9BZE1 RM37_HUMAN mitochondrial ribosomal protein L37 270 translation mitochondrial ribosome structural constituent of ribosome NS(1)|endometrium(3)|kidney(1)|large_intestine(6)|liver(2)|lung(4)|skin(2) 19 TGAATGCAATATTTATGATGT 0.428000 21 75 0 0 1 0 0 APOB 338 broad.mit.edu 37 2 21235228 21235228 + Silent SNP A A G TCGA-E7-A97P-01A-11D-A38G-08 TCGA-E7-A97P-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18b5c355-e247-4694-9d46-770aa838190c 22cf4b93-69d7-44aa-a47c-b2799d224f5b g.chr2:21235228A>G ENST00000233242.1 - 26 4639 c.4512T>C c.(4510-4512)tcT>tcC p.S1504S NM_000384.2 NP_000375 P04114 APOB_HUMAN apolipoprotein B 1504 cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6) 305 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) Atorvastatin(DB01076) CCCTCTGACAAGACAGGCCAT 0.463000 20 60 0 0 1 0 0 POTEM 641455 broad.mit.edu 37 14 20010235 20010235 + Missense_Mutation SNP A A G TCGA-E7-A97P-01A-11D-A38G-08 TCGA-E7-A97P-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18b5c355-e247-4694-9d46-770aa838190c 22cf4b93-69d7-44aa-a47c-b2799d224f5b g.chr14:20010235A>G ENST00000551509.1 - 5 974 c.923T>C c.(922-924)gTt>gCt p.V308A RP11-244H18.1_ENST00000547584.1_lincRNA NM_001145442.1 NP_001138914.1 A6NI47 POTEM_HUMAN POTE ankyrin domain family, member M 308 endometrium(4)|kidney(1)|lung(4) 9 AAGTATGAGAACAGTTCTAAA 0.368000 4 74 0 0 1 0 0 RBMS1 5937 broad.mit.edu 37 2 161138808 161138808 + Missense_Mutation SNP T T G TCGA-E7-A97P-01A-11D-A38G-08 TCGA-E7-A97P-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18b5c355-e247-4694-9d46-770aa838190c 22cf4b93-69d7-44aa-a47c-b2799d224f5b g.chr2:161138808T>G ENST00000392753.3 - 10 1053 c.899A>C c.(898-900)aAg>aCg p.K300T RBMS1_ENST00000348849.3_Intron|RBMS1_ENST00000474820.1_5'UTR|RBMS1_ENST00000409289.2_Intron|RBMS1_ENST00000409972.1_Intron|RBMS1_ENST00000409075.1_Intron P29558 RBMS1_HUMAN RNA binding motif, single stranded interacting protein 1 300 DNA replication|RNA processing nucleus double-stranded DNA binding|nucleotide binding|protein binding|RNA binding|single-stranded DNA binding PLA2R1/RBMS1(2) TCTGGTTTCCTTTGCCACCTA 0.458000 19 60 0 0 1 0 0 FSTL1 11167 broad.mit.edu 37 3 120122193 120122193 + Missense_Mutation SNP C C A TCGA-E7-A97P-01A-11D-A38G-08 TCGA-E7-A97P-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18b5c355-e247-4694-9d46-770aa838190c 22cf4b93-69d7-44aa-a47c-b2799d224f5b g.chr3:120122193C>A ENST00000295633.3 - 8 946 c.590G>T c.(589-591)tGt>tTt p.C197F FSTL1_ENST00000424703.2_Missense_Mutation_p.C162F NM_007085.4 NP_009016.1 Q12841 FSTL1_HUMAN follistatin-like 1 197 EF-hand 2. BMP signaling pathway extracellular space calcium ion binding|heparin binding central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|skin(1) 20 GBM - Glioblastoma multiforme(114;0.189) AGCATCAACACAGAGTCCCCT 0.468000 10 44 3.86212e-05 4.10529e-05 1 1 0 SLC5A7 60482 broad.mit.edu 37 2 108614419 108614419 + Missense_Mutation SNP C C G TCGA-E7-A97P-01A-11D-A38G-08 TCGA-E7-A97P-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18b5c355-e247-4694-9d46-770aa838190c 22cf4b93-69d7-44aa-a47c-b2799d224f5b g.chr2:108614419C>G ENST00000264047.2 + 5 850 c.574C>G c.(574-576)Ctc>Gtc p.L192V SLC5A7_ENST00000409059.1_Missense_Mutation_p.L192V|SLC5A7_ENST00000540517.1_Missense_Mutation_p.L87V NM_021815.2 NP_068587.1 Q9GZV3 SC5A7_HUMAN solute carrier family 5 (sodium/choline cotransporter), member 7 192 acetylcholine biosynthetic process|neurotransmitter secretion integral to membrane|plasma membrane choline:sodium symporter activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2) 49 Choline(DB00122) TGTCGTTCAGCTCTTTTGCAT 0.418000 27 77 0 0 1 0 0 KIAA2018 205717 broad.mit.edu 37 3 113375143 113375143 + Missense_Mutation SNP G G C TCGA-E7-A97P-01A-11D-A38G-08 TCGA-E7-A97P-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18b5c355-e247-4694-9d46-770aa838190c 22cf4b93-69d7-44aa-a47c-b2799d224f5b g.chr3:113375143G>C ENST00000316407.4 - 7 5796 c.5386C>G c.(5386-5388)Cca>Gca p.P1796A KIAA2018_ENST00000491165.1_Intron|KIAA2018_ENST00000478658.1_Missense_Mutation_p.P1796A NM_001009899.2 NP_001009899.2 Q68DE3 K2018_HUMAN KIAA2018 1796 regulation of transcription, DNA-dependent membrane|nucleus calcium ion binding|DNA binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity NS(1)|breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(30)|ovary(8)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2) 80 CTCTGAACTGGTGGGTAAGAT 0.468000 44 180 0 0 1 0 0 GTF2H3 2967 broad.mit.edu 37 12 124144444 124144444 + Nonsense_Mutation SNP G G T TCGA-E7-A97P-01A-11D-A38G-08 TCGA-E7-A97P-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18b5c355-e247-4694-9d46-770aa838190c 22cf4b93-69d7-44aa-a47c-b2799d224f5b g.chr12:124144444G>T ENST00000543341.2 + 11 818 c.787G>T c.(787-789)Gaa>Taa p.E263* GTF2H3_ENST00000228955.7_Nonsense_Mutation_p.E222* NM_001271867.1|NM_001516.3 NP_001258796.1|NP_001507.2 Q13889 TF2H3_HUMAN general transcription factor IIH, polypeptide 3, 34kDa 263 mRNA capping|nucleotide-excision repair, DNA damage removal|positive regulation of viral transcription|protein phosphorylation|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction core TFIIH complex|holo TFIIH complex damaged DNA binding|metal ion binding|protein N-terminus binding|sequence-specific DNA binding transcription factor activity|translation factor activity, nucleic acid binding breast(2)|endometrium(1)|large_intestine(4)|lung(2)|urinary_tract(1) 10 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;7.1e-05)|Epithelial(86;0.000388)|all cancers(50;0.00362) AAATCTCATTGAAATTGGTTA 0.418000 Nucleotide excision repair (NER) 32 78 7.11191e-15 8.16447e-15 1 1 0 STAM 8027 broad.mit.edu 37 10 17730077 17730077 + Missense_Mutation SNP G G A TCGA-E7-A97P-01A-11D-A38G-08 TCGA-E7-A97P-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18b5c355-e247-4694-9d46-770aa838190c 22cf4b93-69d7-44aa-a47c-b2799d224f5b g.chr10:17730077G>A ENST00000377524.3 + 5 564 c.349G>A c.(349-351)Gat>Aat p.D117N STAM_ENST00000540523.1_Missense_Mutation_p.D6N NM_003473.3 NP_003464.1 Q92783 STAM1_HUMAN signal transducing adaptor molecule (SH3 domain and ITAM motif) 1 117 VHS. cellular membrane organization|endosome transport|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway cytosol|early endosome membrane SH3/SH2 adaptor activity breast(2)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 26 TGAATGGACAGATGAATTTAA 0.353000 35 62 0 0 1 0 0 HOXA2 3199 broad.mit.edu 37 7 27140643 27140643 + Missense_Mutation SNP G G A TCGA-E7-A97P-01A-11D-A38G-08 TCGA-E7-A97P-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18b5c355-e247-4694-9d46-770aa838190c 22cf4b93-69d7-44aa-a47c-b2799d224f5b g.chr7:27140643G>A ENST00000222718.5 - 2 1143 c.833C>T c.(832-834)aCc>aTc p.T278I NM_006735.3 NP_006726.1 O43364 HXA2_HUMAN homeobox A2 278 nucleus sequence-specific DNA binding transcription factor activity breast(3)|cervix(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(1) 22 CTCATTGCTGGTTAAAGGCGA 0.493000 15 80 0 0 1 0 0 VCAN 1462 broad.mit.edu 37 5 82837857 82837857 + Missense_Mutation SNP C C T TCGA-E7-A97P-01A-11D-A38G-08 TCGA-E7-A97P-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18b5c355-e247-4694-9d46-770aa838190c 22cf4b93-69d7-44aa-a47c-b2799d224f5b g.chr5:82837857C>T ENST00000265077.3 + 8 9600 c.9035C>T c.(9034-9036)cCt>cTt p.P3012L VCAN_ENST00000502527.2_Intron|VCAN_ENST00000513016.1_3'UTR|VCAN_ENST00000512590.2_Intron|VCAN_ENST00000343200.5_Missense_Mutation_p.P2025L|VCAN_ENST00000342785.4_Intron|VCAN-AS1_ENST00000513899.1_RNA|VCAN-AS1_ENST00000512090.1_RNA NM_004385.4 NP_004376.2 P13611 CSPG2_HUMAN versican 3012 GAG-beta. cell adhesion|cell recognition|glial cell migration extracellular space|proteinaceous extracellular matrix calcium ion binding|hyaluronic acid binding|sugar binding NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5) 190 Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142) OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29) GAAATAAACCCTGAAACTCAA 0.502000 20 41 0 0 1 0 0 ITPR2 3709 broad.mit.edu 37 12 26647275 26647275 + Splice_Site SNP T T C TCGA-E7-A97P-01A-11D-A38G-08 TCGA-E7-A97P-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18b5c355-e247-4694-9d46-770aa838190c 22cf4b93-69d7-44aa-a47c-b2799d224f5b g.chr12:26647275T>C ENST00000381340.3 - 39 5599 c.e39-2 NM_002223.2 NP_002214.2 Q14571 ITPR2_HUMAN inositol 1,4,5-trisphosphate receptor, type 2 activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity ETV6/ITPR2(2) biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3) 125 Colorectal(261;0.0847) AAAAGCTTCCTGTGATTGGGA 0.284000 10 18 0 0 1 0 0 PKHD1 5314 broad.mit.edu 37 6 51908479 51908479 + Missense_Mutation SNP G G C TCGA-E7-A97P-01A-11D-A38G-08 TCGA-E7-A97P-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18b5c355-e247-4694-9d46-770aa838190c 22cf4b93-69d7-44aa-a47c-b2799d224f5b g.chr6:51908479G>C ENST00000371117.3 - 26 3040 c.2765C>G c.(2764-2766)tCt>tGt p.S922C PKHD1_ENST00000340994.4_Missense_Mutation_p.S922C NM_138694.3 NP_619639.3 P08F94 PKHD1_HUMAN polycystic kidney and hepatic disease 1 (autosomal recessive) 922 cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body protein binding|receptor activity NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5) 304 Lung NSC(77;0.0605) GTACTGGAAAGAGCAGGAACC 0.463000 8 33 0 0 1 0 0 TTC24 164118 broad.mit.edu 37 1 156553130 156553130 + Splice_Site SNP G G A TCGA-E7-A97P-01A-11D-A38G-08 TCGA-E7-A97P-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18b5c355-e247-4694-9d46-770aa838190c 22cf4b93-69d7-44aa-a47c-b2799d224f5b g.chr1:156553130G>A ENST00000368236.3 + 5 1076 c.1040G>A c.(1039-1041)gGg>gAg p.G347E TTC24_ENST00000368237.3_Splice_Site_p.G347E|TTC24_ENST00000478081.1_Intron NM_001105669.2 NP_001099139.2 A2A3L6 TTC24_HUMAN tetratricopeptide repeat domain 24 347 binding breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(10)|pancreas(1)|prostate(1) 20 all_hematologic(923;0.088)|Hepatocellular(266;0.158) TTTCTCTCAGGGGACATGAAG 0.592000 6 11 0 0 1 0 0 LRRC7 57554 broad.mit.edu 37 1 70504634 70504634 + Missense_Mutation SNP G G T TCGA-E7-A97P-01A-11D-A38G-08 TCGA-E7-A97P-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18b5c355-e247-4694-9d46-770aa838190c 22cf4b93-69d7-44aa-a47c-b2799d224f5b g.chr1:70504634G>T ENST00000310961.5 + 22 3446 c.3028G>T c.(3028-3030)Gat>Tat p.D1010Y LRRC7_ENST00000415775.2_Missense_Mutation_p.D289Y|LRRC7_ENST00000035383.5_Missense_Mutation_p.D1005Y Q96NW7 LRRC7_HUMAN leucine rich repeat containing 7 1005 centrosome|focal adhesion|nucleolus protein binding breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2) 162 AATGCTGGATGATGAGATGCT 0.468000 9 29 1.58986e-06 1.71538e-06 1 1 0 TARS 6897 broad.mit.edu 37 5 33455765 33455765 + Missense_Mutation SNP G G C TCGA-E7-A97P-01A-11D-A38G-08 TCGA-E7-A97P-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18b5c355-e247-4694-9d46-770aa838190c 22cf4b93-69d7-44aa-a47c-b2799d224f5b g.chr5:33455765G>C ENST00000265112.3 + 6 960 c.649G>C c.(649-651)Gaa>Caa p.E217Q TARS_ENST00000455217.2_Missense_Mutation_p.E250Q|TARS_ENST00000541634.1_Missense_Mutation_p.E113Q|TARS_ENST00000414361.2_Missense_Mutation_p.E96Q|TARS_ENST00000502553.1_Missense_Mutation_p.E217Q NM_152295.4 NP_689508.3 P26639 SYTC_HUMAN threonyl-tRNA synthetase 217 threonyl-tRNA aminoacylation cytosol ATP binding|protein homodimerization activity|threonine-tRNA ligase activity NS(1)|biliary_tract(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(1) 29 L-Threonine(DB00156) ACAAGCTTTTGAAAGACTGGA 0.348000 13 62 0 0 1 0 0 ANK2 287 broad.mit.edu 37 4 114158181 114158181 + Silent SNP A A G TCGA-E7-A97P-01A-11D-A38G-08 TCGA-E7-A97P-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18b5c355-e247-4694-9d46-770aa838190c 22cf4b93-69d7-44aa-a47c-b2799d224f5b g.chr4:114158181A>G ENST00000357077.4 + 6 575 c.522A>G c.(520-522)ggA>ggG p.G174G ANK2_ENST00000264366.6_Silent_p.G174G|ANK2_ENST00000394537.3_Silent_p.G174G|ANK2_ENST00000506722.1_Silent_p.G153G NM_001148.4 NP_001139.3 Q01484 ANK2_HUMAN ankyrin 2, neuronal 174 axon guidance|signal transduction apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere protein binding NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10) 248 Ovarian(17;0.0448)|Hepatocellular(203;0.218) OV - Ovarian serous cystadenocarcinoma(123;4.92e-05) TCCAGCAAGGACACAACCAGG 0.473000 19 62 0 0 1 0 0 TXLNG 55787 broad.mit.edu 37 X 16846329 16846329 + Missense_Mutation SNP C C T TCGA-E7-A97P-01A-11D-A38G-08 TCGA-E7-A97P-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18b5c355-e247-4694-9d46-770aa838190c 22cf4b93-69d7-44aa-a47c-b2799d224f5b g.chrX:16846329C>T ENST00000380122.5 + 4 672 c.611C>T c.(610-612)gCa>gTa p.A204V TXLNG_ENST00000398155.4_Missense_Mutation_p.A72V NM_018360.2 NP_060830.2 Q9NUQ3 TXLNG_HUMAN taxilin gamma 204 cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytosol|nuclear membrane breast(2)|large_intestine(5)|lung(6)|prostate(1)|skin(1) 15 GCTATCTTGGCAAGAAGCAAG 0.413000 16 28 0 0 1 0 0 PKD2 5311 broad.mit.edu 37 4 88987031 88987031 + Splice_Site SNP G G A TCGA-E7-A97P-01A-11D-A38G-08 TCGA-E7-A97P-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18b5c355-e247-4694-9d46-770aa838190c 22cf4b93-69d7-44aa-a47c-b2799d224f5b g.chr4:88987031G>A ENST00000237596.2 + 12 2424 c.2358G>A c.(2356-2358)agG>agA p.R786R PKD2_ENST00000502363.1_Splice_Site_p.R204R|PKD2_ENST00000511337.1_3'UTR|PKD2_ENST00000508588.1_Splice_Site_p.R204R NM_000297.3 NP_000288.1 Q13563 PKD2_HUMAN polycystic kidney disease 2 (autosomal dominant) 786 EF-hand domain. basal cortex|basal plasma membrane|endoplasmic reticulum|integral to membrane|lamellipodium|microtubule basal body calcium ion binding|cytoskeletal protein binding|voltage-gated chloride channel activity|voltage-gated sodium channel activity breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|liver(2)|lung(15)|skin(4)|upper_aerodigestive_tract(1) 36 Hepatocellular(203;0.114)|Acute lymphoblastic leukemia(40;0.221) OV - Ovarian serous cystadenocarcinoma(123;9.98e-10)|COAD - Colon adenocarcinoma(81;0.0237) AGAAAGAGAGGGTGGGTCTGG 0.443000 9 37 0 0 1 0 0 RGPD3 653489 broad.mit.edu 37 2 107049681 107049681 + Missense_Mutation SNP T T C TCGA-E7-A97P-01A-11D-A38G-08 TCGA-E7-A97P-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18b5c355-e247-4694-9d46-770aa838190c 22cf4b93-69d7-44aa-a47c-b2799d224f5b g.chr2:107049681T>C ENST00000409886.3 - 16 2353 c.2266A>G c.(2266-2268)Aac>Gac p.N756D RGPD3_ENST00000304514.7_Missense_Mutation_p.N756D NM_001144013.1 NP_001137485.1 A6NKT7 RGPD3_HUMAN RANBP2-like and GRIP domain containing 3 756 intracellular transport binding p.N756D(6) breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2) 71 TCACTATAGTTTTCGAGTTCC 0.373000 4 202 0 0 1 0 0 MCM4 4173 broad.mit.edu 37 8 48874652 48874652 + Missense_Mutation SNP A A G TCGA-E7-A97P-01A-11D-A38G-08 TCGA-E7-A97P-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18b5c355-e247-4694-9d46-770aa838190c 22cf4b93-69d7-44aa-a47c-b2799d224f5b g.chr8:48874652A>G ENST00000262105.2 + 3 484 c.275A>G c.(274-276)tAc>tGc p.Y92C MCM4_ENST00000523944.1_Missense_Mutation_p.Y92C NM_005914.3 NP_005905.2 P33991 MCM4_HUMAN minichromosome maintenance complex component 4 92 cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle MCM complex ATP binding|DNA binding|helicase activity|protein binding biliary_tract(1)|breast(1)|endometrium(7)|kidney(4)|large_intestine(5)|lung(16)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2) 44 all_cancers(86;0.026)|all_epithelial(80;0.000748)|Lung NSC(129;0.00327)|all_lung(136;0.00354) CCACTGACATACGGCACTCCC 0.488000 23 68 0 0 1 0 0 VPS13D 55187 broad.mit.edu 37 1 12378315 12378315 + Silent SNP G G T TCGA-E7-A97P-01A-11D-A38G-08 TCGA-E7-A97P-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18b5c355-e247-4694-9d46-770aa838190c 22cf4b93-69d7-44aa-a47c-b2799d224f5b g.chr1:12378315G>T ENST00000358136.3 + 31 7465 c.7335G>T c.(7333-7335)gtG>gtT p.V2445V VPS13D_ENST00000356315.4_Silent_p.V2445V NM_015378.2 NP_056193.2 Q5THJ4 VP13D_HUMAN vacuolar protein sorting 13 homolog D (S. cerevisiae) 2445 protein localization NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4) 130 Ovarian(185;0.249) Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209) CCAAAACTGTGAAGAGTGGAG 0.443000 19 74 4.96729e-08 5.42058e-08 1 1 0 ARHGAP32 9743 broad.mit.edu 37 11 128932222 128932222 + Missense_Mutation SNP G G A TCGA-E7-A97P-01A-11D-A38G-08 TCGA-E7-A97P-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18b5c355-e247-4694-9d46-770aa838190c 22cf4b93-69d7-44aa-a47c-b2799d224f5b g.chr11:128932222G>A ENST00000310343.9 - 9 873 c.874C>T c.(874-876)Ccc>Tcc p.P292S ARHGAP32_ENST00000524655.1_Missense_Mutation_p.P218S NM_001142685.1 NP_001136157.1 A7KAX9 RHG32_HUMAN Rho GTPase activating protein 32 292 SH3. cell communication|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cell cortex|cell junction|cytosol|dendritic spine|endoplasmic reticulum membrane|endosome membrane|Golgi membrane|postsynaptic density|postsynaptic membrane GTPase activator activity|phosphatidylinositol binding breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(28)|ovary(3)|prostate(6)|urinary_tract(3) 60 ACTTTCGGGGGCATGTCAATA 0.368000 3 46 0 0 1 0 0 BTBD6 90135 broad.mit.edu 37 14 105716478 105716478 + Missense_Mutation SNP C C G TCGA-E7-A97P-01A-11D-A38G-08 TCGA-E7-A97P-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18b5c355-e247-4694-9d46-770aa838190c 22cf4b93-69d7-44aa-a47c-b2799d224f5b g.chr14:105716478C>G ENST00000463376.2 + 3 1243 c.702C>G c.(700-702)caC>caG p.H234Q BRF1_ENST00000327359.3_Intron|BRF1_ENST00000546474.1_Intron|BRF1_ENST00000379937.2_Intron|BTBD6_ENST00000327471.3_Missense_Mutation_p.H234Q|BRF1_ENST00000440513.3_Intron|BTBD6_ENST00000536364.1_Missense_Mutation_p.H309Q|BTBD6_ENST00000392554.3_Missense_Mutation_p.H309Q Q96KE9 BTBD6_HUMAN BTB (POZ) domain containing 6 309 cytoplasmic mRNA processing body endometrium(1)|lung(3) 4 Melanoma(154;0.226) OV - Ovarian serous cystadenocarcinoma(23;0.0163)|Epithelial(46;0.0391) Epithelial(152;0.18) AGGAGACCCACAGCATCTTCC 0.612000 4 86 0 0 1 0 0 OSER1 51526 broad.mit.edu 37 20 42826201 42826201 + Missense_Mutation SNP A A G TCGA-E7-A97P-01A-11D-A38G-08 TCGA-E7-A97P-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18b5c355-e247-4694-9d46-770aa838190c 22cf4b93-69d7-44aa-a47c-b2799d224f5b g.chr20:42826201A>G ENST00000372970.2 - 6 550 c.370T>C c.(370-372)Tca>Cca p.S124P OSER1_ENST00000255174.2_Missense_Mutation_p.S124P oxidative stress responsive serine-rich 1 TTAGGGGATGAAATTCCCAGC 0.473000 30 100 0 0 1 0 0 E2F6 1876 broad.mit.edu 37 2 11586604 11586604 + Silent SNP C C T TCGA-E7-A97P-01A-11D-A38G-08 TCGA-E7-A97P-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18b5c355-e247-4694-9d46-770aa838190c 22cf4b93-69d7-44aa-a47c-b2799d224f5b g.chr2:11586604C>T ENST00000381525.3 - 7 1114 c.845G>A c.(844-846)tGa>tAa p.*282* E2F6_ENST00000542100.1_Silent_p.*207*|E2F6_ENST00000546212.1_Silent_p.*207*|E2F6_ENST00000307236.4_Silent_p.*250*|E2F6_ENST00000362009.4_3'UTR NM_198256.2 NP_937987.2 O75461 E2F6_HUMAN E2F transcription factor 6 0 negative regulation of transcription from RNA polymerase II promoter MLL1 complex|transcription factor complex DNA binding|transcription corepressor activity cervix(1)|kidney(1)|lung(3)|prostate(1)|skin(2) 8 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) Epithelial(75;0.114)|OV - Ovarian serous cystadenocarcinoma(76;0.168) CAAATGCCATCAGTTGCTTAC 0.353000 8 42 0 0 1 0 0 LRRC24 441381 broad.mit.edu 37 8 145749541 145749541 + Missense_Mutation SNP C C T TCGA-E7-A97P-01A-11D-A38G-08 TCGA-E7-A97P-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18b5c355-e247-4694-9d46-770aa838190c 22cf4b93-69d7-44aa-a47c-b2799d224f5b g.chr8:145749541C>T ENST00000529415.2 - 4 677 c.560G>A c.(559-561)cGa>cAa p.R187Q LRRC14_ENST00000292524.1_3'UTR|LRRC14_ENST00000528528.1_Intron|LRRC24_ENST00000533758.1_Missense_Mutation_p.R184Q Q50LG9 LRC24_HUMAN leucine rich repeat containing 24 187 integral to membrane breast(2)|endometrium(1)|kidney(1)|lung(1) 5 all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055) CAGGGCCTCTCGGCTGATGGT 0.627000 7 165 0 0 1 0 0 TNKS1BP1 85456 broad.mit.edu 37 11 57076139 57076139 + Missense_Mutation SNP G G A rs143761660 TCGA-E7-A97P-01A-11D-A38G-08 TCGA-E7-A97P-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18b5c355-e247-4694-9d46-770aa838190c 22cf4b93-69d7-44aa-a47c-b2799d224f5b g.chr11:57076139G>A ENST00000532437.1 - 5 4357 c.4046C>T c.(4045-4047)gCg>gTg p.A1349V TNKS1BP1_ENST00000358252.3_Missense_Mutation_p.A1349V Q9C0C2 TB182_HUMAN tankyrase 1 binding protein 1, 182kDa 1349 Acidic. nuclear-transcribed mRNA poly(A) tail shortening|telomere maintenance via telomerase cytoskeleton|cytosol|nuclear telomeric heterochromatin ankyrin binding|enzyme binding breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 64 all_epithelial(135;0.21) ATTCTGGGGCGCCAAGTCCTG 0.647000 37 114 0 0 1 0 0 HOXD1 3231 broad.mit.edu 37 2 177054731 177054731 + Missense_Mutation SNP A A G TCGA-E7-A97P-01A-11D-A38G-08 TCGA-E7-A97P-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18b5c355-e247-4694-9d46-770aa838190c 22cf4b93-69d7-44aa-a47c-b2799d224f5b g.chr2:177054731A>G ENST00000331462.4 + 2 1071 c.848A>G c.(847-849)aAa>aGa p.K283R NM_024501.2 NP_078777.1 Q9GZZ0 HXD1_HUMAN homeobox D1 283 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity kidney(1)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(1) 10 OV - Ovarian serous cystadenocarcinoma(117;0.00569)|Epithelial(96;0.0864)|all cancers(119;0.226) Colorectal(32;0.0226) CGCAGGATGAAACAGAAGAAA 0.512000 22 134 0 0 1 0 0 SFSWAP 6433 broad.mit.edu 37 12 132204013 132204013 + Missense_Mutation SNP G G A TCGA-E7-A97P-01A-11D-A38G-08 TCGA-E7-A97P-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18b5c355-e247-4694-9d46-770aa838190c 22cf4b93-69d7-44aa-a47c-b2799d224f5b g.chr12:132204013G>A ENST00000261674.4 + 4 676 c.535G>A c.(535-537)Gaa>Aaa p.E179K SFSWAP_ENST00000541286.1_Missense_Mutation_p.E179K NM_004592.3 NP_004583.2 Q12872 SFSWA_HUMAN splicing factor, suppressor of white-apricot homolog (Drosophila) 179 mRNA splice site selection|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding|RNA binding endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(8)|ovary(1)|skin(2) 25 AAATGAGGCCGAAAATTTAGA 0.453000 21 45 0 0 1 0 0 STOML1 9399 broad.mit.edu 37 15 74276451 74276451 + Missense_Mutation SNP C C T rs141171144 byFrequency TCGA-E7-A97P-01A-11D-A38G-08 TCGA-E7-A97P-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18b5c355-e247-4694-9d46-770aa838190c 22cf4b93-69d7-44aa-a47c-b2799d224f5b g.chr15:74276451C>T ENST00000316900.5 - 7 1148 c.1024G>A c.(1024-1026)Ggg>Agg p.G342R STOML1_ENST00000541638.1_Missense_Mutation_p.G299R|STOML1_ENST00000316911.6_Missense_Mutation_p.G292R|STOML1_ENST00000561656.1_Missense_Mutation_p.G254R|STOML1_ENST00000564777.1_Missense_Mutation_p.G291R|STOML1_ENST00000359750.4_Missense_Mutation_p.G271R NM_001256672.1|NM_001256675.1|NM_001256677.1|NM_004809.4 NP_001243601.1|NP_001243604.1|NP_001243606.1|NP_004800.2 Q9UBI4 STML1_HUMAN stomatin (EPB72)-like 1 342 SCP2. integral to membrane sterol binding endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1) 8 TCAGGCACCCCGTGTCCCACT 0.622000 6 18 0 0 1 0 0 SRSF11 9295 broad.mit.edu 37 1 70687345 70687345 + Missense_Mutation SNP G G T TCGA-E7-A97P-01A-11D-A38G-08 TCGA-E7-A97P-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18b5c355-e247-4694-9d46-770aa838190c 22cf4b93-69d7-44aa-a47c-b2799d224f5b g.chr1:70687345G>T ENST00000370950.3 + 2 108 c.26G>T c.(25-27)aGc>aTc p.S9I SRSF11_ENST00000370951.1_Missense_Mutation_p.S9I|SRSF11_ENST00000405432.1_Missense_Mutation_p.S9I|SRSF11_ENST00000436161.2_Missense_Mutation_p.S9I|SRSF11_ENST00000454435.2_Missense_Mutation_p.S9I Q05519 SRS11_HUMAN serine/arginine-rich splicing factor 11 9 mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription nucleoplasm nucleotide binding|protein binding|RNA binding large_intestine(3)|ovary(2)|skin(1) 6 GTCGTCCCCAGCACTGCAGGT 0.642000 8 86 1.01871e-10 1.14655e-10 1 1 0 MGA 23269 broad.mit.edu 37 15 42019568 42019568 + Silent SNP A A G TCGA-E7-A97P-01A-11D-A38G-08 TCGA-E7-A97P-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18b5c355-e247-4694-9d46-770aa838190c 22cf4b93-69d7-44aa-a47c-b2799d224f5b g.chr15:42019568A>G ENST00000219905.7 + 10 3802 c.3621A>G c.(3619-3621)aaA>aaG p.K1207K MGA_ENST00000389936.4_Silent_p.K1207K|MGA_ENST00000545763.1_Silent_p.K1207K|MGA_ENST00000570161.1_Silent_p.K1207K|MGA_ENST00000566586.1_Silent_p.K1207K NM_001164273.1 NP_001157745.1 Q8IWI9 MGAP_HUMAN MGA, MAX dimerization protein 1207 MLL1 complex DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 95 all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238) OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235) CTGGAATTAAATCTCCACGGT 0.413000 27 96 0 0 1 0 0 ZXDC 79364 broad.mit.edu 37 3 126191040 126191040 + Missense_Mutation SNP T T C TCGA-E7-A97P-01A-11D-A38G-08 TCGA-E7-A97P-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18b5c355-e247-4694-9d46-770aa838190c 22cf4b93-69d7-44aa-a47c-b2799d224f5b g.chr3:126191040T>C ENST00000389709.3 - 2 1069 c.1016A>G c.(1015-1017)tAt>tGt p.Y339C ZXDC_ENST00000336332.5_Missense_Mutation_p.Y339C NM_025112.4 NP_079388.3 Q2QGD7 ZXDC_HUMAN ZXD family zinc finger C 339 positive regulation of transcription, DNA-dependent nucleus C2H2 zinc finger domain binding|identical protein binding|LRR domain binding|nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)|ovary(1) 17 GBM - Glioblastoma multiforme(114;0.155) GGCTTTATCATACTGCTTGCT 0.488000 19 45 0 0 1 0 0 F2RL1 2150 broad.mit.edu 37 5 76128930 76128930 + Missense_Mutation SNP G G A TCGA-E7-A97P-01A-11D-A38G-08 TCGA-E7-A97P-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18b5c355-e247-4694-9d46-770aa838190c 22cf4b93-69d7-44aa-a47c-b2799d224f5b g.chr5:76128930G>A ENST00000296677.4 + 2 704 c.498G>A c.(496-498)atG>atA p.M166I NM_005242.4 NP_005233 P55085 PAR2_HUMAN coagulation factor II (thrombin) receptor-like 1 166 blood coagulation|elevation of cytosolic calcium ion concentration|positive regulation of leukocyte chemotaxis|positive regulation of positive chemotaxis|regulation of blood coagulation Golgi apparatus|integral to plasma membrane receptor binding|thrombin receptor activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1) 13 all_lung(232;0.000414)|Lung NSC(167;0.0011)|Ovarian(174;0.0129)|Prostate(461;0.11) OV - Ovarian serous cystadenocarcinoma(54;7.7e-51)|Epithelial(54;2.77e-45)|all cancers(79;3.47e-41) TTCTCTTCATGACCTGCCTCA 0.473000 38 151 0 0 1 0 0 GCC2 9648 broad.mit.edu 37 2 109066134 109066134 + Missense_Mutation SNP G G C TCGA-E7-A97P-01A-11D-A38G-08 TCGA-E7-A97P-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18b5c355-e247-4694-9d46-770aa838190c 22cf4b93-69d7-44aa-a47c-b2799d224f5b g.chr2:109066134G>C ENST00000309863.6 + 2 766 c.52G>C c.(52-54)Ggg>Cgg p.G18R NM_181453.3 NP_852118 Q8IWJ2 GCC2_HUMAN GRIP and coiled-coil domain containing 2 18 Golgi ribbon formation|late endosome to Golgi transport|microtubule anchoring|microtubule organizing center organization|protein localization in Golgi apparatus|protein targeting to lysosome|recycling endosome to Golgi transport|regulation of protein exit from endoplasmic reticulum membrane|trans-Golgi network identical protein binding breast(8)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 54 CCCTGGGACCGGGAAATCTAA 0.493000 24 60 0 0 1 0 0 PDZD4 57595 broad.mit.edu 37 X 153068841 153068841 + Silent SNP G G C TCGA-E7-A97P-01A-11D-A38G-08 TCGA-E7-A97P-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18b5c355-e247-4694-9d46-770aa838190c 22cf4b93-69d7-44aa-a47c-b2799d224f5b g.chrX:153068841G>C ENST00000164640.4 - 8 2468 c.2277C>G c.(2275-2277)gtC>gtG p.V759V PDZD4_ENST00000544474.1_Silent_p.V650V|PDZD4_ENST00000393758.2_Silent_p.V684V NM_032512.2 NP_115901.2 Q76G19 PDZD4_HUMAN PDZ domain containing 4 759 cell cortex breast(3)|cervix(1)|endometrium(5)|lung(13)|skin(1) 23 all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05) GAGGGTTGTAGACCCGCTTGC 0.642000 9 3 0 0 1 0 0 TTLL7 79739 broad.mit.edu 37 1 84387031 84387031 + Nonsense_Mutation SNP G G A TCGA-E7-A97P-01A-11D-A38G-08 TCGA-E7-A97P-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18b5c355-e247-4694-9d46-770aa838190c 22cf4b93-69d7-44aa-a47c-b2799d224f5b g.chr1:84387031G>A ENST00000260505.8 - 11 1566 c.1189C>T c.(1189-1191)Caa>Taa p.Q397* TTLL7_ENST00000477524.1_5'UTR NM_024686.4 NP_078962.4 Q6ZT98 TTLL7_HUMAN tubulin tyrosine ligase-like family, member 7 397 cell differentiation|nervous system development|protein modification process cilium|dendrite|microtubule basal body|perikaryon tubulin-tyrosine ligase activity kidney(1)|large_intestine(8)|lung(15)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 29 all cancers(265;0.0126)|Epithelial(280;0.0372)|OV - Ovarian serous cystadenocarcinoma(397;0.16) AGCCTCCTTTGAGCCTCAGCT 0.413000 21 69 0 0 1 0 0 MED14 9282 broad.mit.edu 37 X 40571448 40571448 + Silent SNP G G A TCGA-E7-A97P-01A-11D-A38G-08 TCGA-E7-A97P-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18b5c355-e247-4694-9d46-770aa838190c 22cf4b93-69d7-44aa-a47c-b2799d224f5b g.chrX:40571448G>A ENST00000324817.1 - 7 997 c.879C>T c.(877-879)taC>taT p.Y293Y NM_004229.3 NP_004220.2 O60244 MED14_HUMAN mediator complex subunit 14 293 Interaction with STAT2. androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter mediator complex ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding NS(2)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(7)|lung(8)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 39 GTAGGCAGTTGTACATATCCT 0.413000 43 65 0 0 1 0 0 ARHGAP10 79658 broad.mit.edu 37 4 148993173 148993173 + Nonsense_Mutation SNP G G T TCGA-E7-A97P-01A-11D-A38G-08 TCGA-E7-A97P-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18b5c355-e247-4694-9d46-770aa838190c 22cf4b93-69d7-44aa-a47c-b2799d224f5b g.chr4:148993173G>T ENST00000336498.3 + 23 2541 c.2302G>T c.(2302-2304)Gaa>Taa p.E768* ARHGAP10_ENST00000510076.1_3'UTR|ARHGAP10_ENST00000414545.2_Nonsense_Mutation_p.E366* NM_024605.3 NP_078881.3 A1A4S6 RHG10_HUMAN Rho GTPase activating protein 10 768 SH3. apoptosis|filopodium assembly|regulation of apoptosis|small GTPase mediated signal transduction cytosol|perinuclear region of cytoplasm|plasma membrane cytoskeletal adaptor activity|SH3 domain binding autonomic_ganglia(2)|endometrium(5)|kidney(2)|large_intestine(4)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(2) 33 all_hematologic(180;0.151) Renal(17;0.0166) GBM - Glioblastoma multiforme(119;0.0423) TGGCTGGCTAGAAGGGACTCT 0.527000 7 37 5.18039e-06 5.54766e-06 1 1 0 DCDC2 51473 broad.mit.edu 37 6 24302032 24302032 + Silent SNP G G A TCGA-E7-A97P-01A-11D-A38G-08 TCGA-E7-A97P-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18b5c355-e247-4694-9d46-770aa838190c 22cf4b93-69d7-44aa-a47c-b2799d224f5b g.chr6:24302032G>A ENST00000378454.3 - 4 769 c.468C>T c.(466-468)ctC>ctT p.L156L NM_001195610.1|NM_016356.3 NP_001182539.1|NP_057440.2 Q9UHG0 DCDC2_HUMAN doublecortin domain containing 2 156 Doublecortin 2. 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) TGGGGATAAGGAGGCGAGAAG 0.438000 27 67 0 0 1 0 0 VPS8 23355 broad.mit.edu 37 3 184566960 184566960 + Missense_Mutation SNP C C G TCGA-E7-A97P-01A-11D-A38G-08 TCGA-E7-A97P-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18b5c355-e247-4694-9d46-770aa838190c 22cf4b93-69d7-44aa-a47c-b2799d224f5b g.chr3:184566960C>G ENST00000287546.4 + 8 814 c.643C>G c.(643-645)Ctt>Gtt p.L215V VPS8_ENST00000446204.2_Missense_Mutation_p.L213V|VPS8_ENST00000437079.3_Missense_Mutation_p.L215V|VPS8_ENST00000436792.2_Missense_Mutation_p.L213V NM_015303.3 NP_056118.2 Q8N3P4 VPS8_HUMAN vacuolar protein sorting 8 homolog (S. cerevisiae) 215 zinc ion binding NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 54 all_cancers(143;2.51e-11)|Ovarian(172;0.0339)|Breast(254;0.247) Epithelial(37;1.02e-33)|OV - Ovarian serous cystadenocarcinoma(80;4.81e-22) CTCAAGACTTCTTTGTGGCTT 0.388000 9 37 0 0 1 0 0 GNL3L 54552 broad.mit.edu 37 X 54578149 54578149 + Missense_Mutation SNP A A G TCGA-E7-A97P-01A-11D-A38G-08 TCGA-E7-A97P-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18b5c355-e247-4694-9d46-770aa838190c 22cf4b93-69d7-44aa-a47c-b2799d224f5b g.chrX:54578149A>G ENST00000336470.4 + 11 1151 c.1012A>G c.(1012-1014)Atc>Gtc p.I338V GNL3L_ENST00000360845.2_Missense_Mutation_p.I338V NM_019067.5 NP_061940.1 Q9NVN8 GNL3L_HUMAN guanine nucleotide binding protein-like 3 (nucleolar)-like 338 ribosome biogenesis nucleolus GTP binding NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(5)|lung(10)|ovary(1)|skin(1)|urinary_tract(1) 30 AGTGGAGACCATCCTGCAGCG 0.617000 18 19 0 0 1 0 0 FHL1 2273 broad.mit.edu 37 X 135289283 135289283 + Missense_Mutation SNP T T C TCGA-E7-A97P-01A-11D-A38G-08 TCGA-E7-A97P-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18b5c355-e247-4694-9d46-770aa838190c 22cf4b93-69d7-44aa-a47c-b2799d224f5b g.chrX:135289283T>C ENST00000543669.1 + 3 976 c.265T>C c.(265-267)Tgc>Cgc p.C89R FHL1_ENST00000345434.3_Missense_Mutation_p.C89R|FHL1_ENST00000394153.2_Missense_Mutation_p.C89R|FHL1_ENST00000394155.2_Missense_Mutation_p.C89R|FHL1_ENST00000370676.3_Missense_Mutation_p.C105R|FHL1_ENST00000477080.1_3'UTR|FHL1_ENST00000539015.1_Missense_Mutation_p.C118R|FHL1_ENST00000535737.1_Missense_Mutation_p.C89R|FHL1_ENST00000370690.3_Missense_Mutation_p.C89R|FHL1_ENST00000370683.1_Missense_Mutation_p.C105R NM_001159704.1 NP_001153176.1 Q13642 FHL1_HUMAN four and a half LIM domains 1 89 LIM zinc-binding 1. VAKDNKILCNK -> CGQGQQRSCAQ (in Ref. 4; AAD21579). cell differentiation|cell growth|muscle organ development|organ morphogenesis cytosol|nucleus|plasma membrane protein binding|zinc ion binding endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(10)|prostate(1)|upper_aerodigestive_tract(1) 19 Acute lymphoblastic leukemia(192;0.000127) CAAGATCCTGTGCAACAAGTG 0.582000 29 40 0 0 1 0 0 DNAH7 56171 broad.mit.edu 37 2 196799388 196799388 + Missense_Mutation SNP G G A TCGA-E7-A97P-01A-11D-A38G-08 TCGA-E7-A97P-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18b5c355-e247-4694-9d46-770aa838190c 22cf4b93-69d7-44aa-a47c-b2799d224f5b g.chr2:196799388G>A ENST00000312428.6 - 21 3498 c.3398C>T c.(3397-3399)aCa>aTa p.T1133I NM_018897.2 NP_061720.2 Q8WXX0 DYH7_HUMAN dynein, axonemal, heavy chain 7 1133 Stem (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3) 205 GGCTTTGGCTGTTGAAATAAT 0.388000 22 120 0 0 1 0 0 PRKCG 5582 broad.mit.edu 37 19 54396620 54396620 + Missense_Mutation SNP G G T TCGA-E7-A97P-01A-11D-A38G-08 TCGA-E7-A97P-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18b5c355-e247-4694-9d46-770aa838190c 22cf4b93-69d7-44aa-a47c-b2799d224f5b g.chr19:54396620G>T ENST00000263431.3 + 9 1196 c.914G>T c.(913-915)tGt>tTt p.C305F PRKCG_ENST00000536044.1_Missense_Mutation_p.V276L|PRKCG_ENST00000540413.1_Missense_Mutation_p.C305F|PRKCG_ENST00000542049.1_Missense_Mutation_p.C192F NM_002739.3 NP_002730.1 P05129 KPCG_HUMAN protein kinase C, gamma 305 activation of phospholipase C activity|cell death|intracellular signal transduction|negative regulation of protein catabolic process|negative regulation of protein ubiquitination|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of mismatch repair|synaptic transmission cytosol ATP binding|protein kinase C activity|zinc ion binding large_intestine(1)|lung(4)|ovary(2)|pancreas(2)|skin(1) 10 all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218) GBM - Glioblastoma multiforme(134;0.0521) TCCCAGGCTTGTAACTACCCC 0.522000 23 105 1.42536e-11 1.61691e-11 1 1 0 RBP3 5949 broad.mit.edu 37 10 48388319 48388319 + Silent SNP C C T TCGA-E7-A97P-01A-11D-A38G-08 TCGA-E7-A97P-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18b5c355-e247-4694-9d46-770aa838190c 22cf4b93-69d7-44aa-a47c-b2799d224f5b g.chr10:48388319C>T ENST00000224600.4 - 1 2672 c.2559G>A c.(2557-2559)gaG>gaA p.E853E NM_002900.2 NP_002891.1 P10745 RET3_HUMAN retinol binding protein 3, interstitial 853 4 X approximate tandem repeats. lipid metabolic process|proteolysis|transport|visual perception interphotoreceptor matrix retinal binding|serine-type peptidase activity central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 59 Vitamin A(DB00162) GTGCAAAGGCCTCGGCCGCAG 0.662000 6 21 0 0 1 0 0 MIS18BP1 55320 broad.mit.edu 37 14 45706894 45706894 + Missense_Mutation SNP T T C TCGA-E7-A97P-01A-11D-A38G-08 TCGA-E7-A97P-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18b5c355-e247-4694-9d46-770aa838190c 22cf4b93-69d7-44aa-a47c-b2799d224f5b g.chr14:45706894T>C ENST00000310806.4 - 5 1632 c.1174A>G c.(1174-1176)Agc>Ggc p.S392G NM_018353.4 NP_060823.3 Q6P0N0 M18BP_HUMAN MIS18 binding protein 1 392 cell division|CenH3-containing nucleosome assembly at centromere|mitosis chromosome, centromeric region|nucleoplasm DNA binding NS(1)|breast(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(10)|liver(1)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(2) 39 TTATTGATGCTTTTAATCATC 0.269000 23 69 0 0 1 0 0 AMIGO2 347902 broad.mit.edu 37 12 47472708 47472708 + Silent SNP C C T TCGA-E7-A97P-01A-11D-A38G-08 TCGA-E7-A97P-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18b5c355-e247-4694-9d46-770aa838190c 22cf4b93-69d7-44aa-a47c-b2799d224f5b g.chr12:47472708C>T ENST00000266581.4 - 2 544 c.78G>A c.(76-78)ttG>ttA p.L26L AMIGO2_ENST00000321382.3_Silent_p.L26L|AMIGO2_ENST00000429635.1_Silent_p.L26L|AMIGO2_ENST00000550413.1_Silent_p.L26L NM_181847.4 NP_862830.1 Q86SJ2 AMGO2_HUMAN adhesion molecule with Ig-like domain 2 26 heterophilic cell-cell adhesion|homophilic cell adhesion integral to membrane|nucleus|plasma membrane endometrium(2)|kidney(1)|large_intestine(8)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 Renal(347;0.138)|Lung SC(27;0.192) TGATCATCAGCAAACACAGCA 0.582000 9 70 0 0 1 0 0 MPI 4351 broad.mit.edu 37 15 75183823 75183823 + Missense_Mutation SNP G G A TCGA-E7-A97P-01A-11D-A38G-08 TCGA-E7-A97P-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18b5c355-e247-4694-9d46-770aa838190c 22cf4b93-69d7-44aa-a47c-b2799d224f5b g.chr15:75183823G>A ENST00000352410.4 + 3 315 c.248G>A c.(247-249)gGc>gAc p.G83D MPI_ENST00000323744.6_Missense_Mutation_p.G83D|MPI_ENST00000564003.1_Missense_Mutation_p.G33D|MPI_ENST00000535694.1_Missense_Mutation_p.G33D|MPI_ENST00000563786.1_Missense_Mutation_p.G63D|MPI_ENST00000562606.1_Missense_Mutation_p.G63D|MPI_ENST00000566377.1_Missense_Mutation_p.G83D|MPI_ENST00000565576.1_Missense_Mutation_p.G83D|MPI_ENST00000563422.1_Missense_Mutation_p.G83D P34949 MPI_HUMAN mannose phosphate isomerase 83 dolichol-linked oligosaccharide biosynthetic process|GDP-mannose biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine cytosol mannose-6-phosphate isomerase activity|zinc ion binding endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|upper_aerodigestive_tract(1) 9 GACAGCTTGGGCTCAAAGGTC 0.537000 38 148 0 0 1 0 0 HECW2 57520 broad.mit.edu 37 2 197189745 197189745 + Missense_Mutation SNP T T C TCGA-E7-A97P-01A-11D-A38G-08 TCGA-E7-A97P-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18b5c355-e247-4694-9d46-770aa838190c 22cf4b93-69d7-44aa-a47c-b2799d224f5b g.chr2:197189745T>C ENST00000260983.3 - 6 882 c.700A>G c.(700-702)Act>Gct p.T234A HECW2_ENST00000409111.1_5'UTR NM_020760.1 NP_065811.1 Q9P2P5 HECW2_HUMAN HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2 C2. protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasm ubiquitin-protein ligase activity biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2) 113 CTGATGATAGTAGACCGTCTC 0.507000 28 140 0 0 1 0 0 MUC5B 727897 broad.mit.edu 37 11 1267728 1267728 + Missense_Mutation SNP C C G TCGA-E7-A97P-01A-11D-A38G-08 TCGA-E7-A97P-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18b5c355-e247-4694-9d46-770aa838190c 22cf4b93-69d7-44aa-a47c-b2799d224f5b g.chr11:1267728C>G ENST00000447027.1 + 31 9685 c.9627C>G c.(9625-9627)atC>atG p.I3209M MUC5B_ENST00000529681.1_Missense_Mutation_p.I3206M|RP11-532E4.2_ENST00000532061.2_RNA Q9HC84 MUC5B_HUMAN mucin 5B, oligomeric mucus/gel-forming 3206 17 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich. Missing (in Ref. 6; AAB61398). cell adhesion extracellular region extracellular matrix structural constituent|protein binding cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1) 137 all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1) CCACAGTCATCAGCTCCAGAG 0.647000 4 156 0 0 1 0 0 OR56A4 120793 broad.mit.edu 37 11 6023726 6023726 + Missense_Mutation SNP G G A TCGA-E7-A97P-01A-11D-A38G-08 TCGA-E7-A97P-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18b5c355-e247-4694-9d46-770aa838190c 22cf4b93-69d7-44aa-a47c-b2799d224f5b g.chr11:6023726G>A ENST00000330728.4 - 1 698 c.653C>T c.(652-654)tCt>tTt p.S218F NM_001005179.2 NP_001005179.2 Q8NGH8 O56A4_HUMAN olfactory receptor, family 56, subfamily A, member 4 166 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|kidney(4)|large_intestine(5)|lung(17)|ovary(1)|skin(1)|urinary_tract(1) 32 Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114) Epithelial(150;7.01e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) GAGCCTGGCAGAAAGCATGGG 0.463000 8 26 0 0 1 0 0 OSER1 51526 broad.mit.edu 37 20 42826138 42826138 + Missense_Mutation SNP C C T TCGA-E7-A97P-01A-11D-A38G-08 TCGA-E7-A97P-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18b5c355-e247-4694-9d46-770aa838190c 22cf4b93-69d7-44aa-a47c-b2799d224f5b g.chr20:42826138C>T ENST00000372970.2 - 6 613 c.433G>A c.(433-435)Gca>Aca p.A145T OSER1_ENST00000255174.2_Missense_Mutation_p.A145T oxidative stress responsive serine-rich 1 TCAACGACTGCCCCTGTGTGA 0.512000 22 89 0 0 1 0 0 CDK13 8621 broad.mit.edu 37 7 40102700 40102700 + Splice_Site SNP G G A TCGA-E7-A97P-01A-11D-A38G-08 TCGA-E7-A97P-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18b5c355-e247-4694-9d46-770aa838190c 22cf4b93-69d7-44aa-a47c-b2799d224f5b g.chr7:40102700G>A ENST00000181839.4 + 9 3385 c.e9+1 CDK13_ENST00000484589.1_Splice_Site|CDK13_ENST00000340829.5_Splice_Site NM_003718.4|NM_031267.3 NP_003709.3|NP_112557.2 Q14004 CDK13_HUMAN cyclin-dependent kinase 13 alternative nuclear mRNA splicing, via spliceosome|hemopoiesis|interspecies interaction between organisms|phosphorylation of RNA polymerase II C-terminal domain|positive regulation of cell proliferation|regulation of mitosis nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(1)|pancreas(2)|prostate(2)|skin(5)|stomach(2)|urinary_tract(1) 49 AATTAATAAGGTAAGCTGCTG 0.368000 4 38 0 0 1 0 0 MEIOB 254528 broad.mit.edu 37 16 1889287 1889287 + Missense_Mutation SNP C C T TCGA-E7-A97P-01A-11D-A38G-08 TCGA-E7-A97P-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18b5c355-e247-4694-9d46-770aa838190c 22cf4b93-69d7-44aa-a47c-b2799d224f5b g.chr16:1889287C>T ENST00000412554.2 - 12 1381 c.1187G>A c.(1186-1188)gGa>gAa p.G396E MEIOB_ENST00000470044.1_Missense_Mutation_p.G189E|MEIOB_ENST00000325962.3_Missense_Mutation_p.G396E|MEIOB_ENST00000452149.2_Missense_Mutation_p.G396E|FAHD1_ENST00000382668.4_Missense_Mutation_p.P221S|MEIOB_ENST00000397344.3_Missense_Mutation_p.G396E|FAHD1_ENST00000382666.4_3'UTR NM_001163560.2 NP_001157032.1 meiosis specific with OB domains AGCAACACTTCCTGTGAGACT 0.388000 9 36 0 0 1 0 0 CDH16 1014 broad.mit.edu 37 16 66945116 66945116 + Silent SNP G G C TCGA-E7-A97P-01A-11D-A38G-08 TCGA-E7-A97P-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18b5c355-e247-4694-9d46-770aa838190c 22cf4b93-69d7-44aa-a47c-b2799d224f5b g.chr16:66945116G>C ENST00000299752.4 - 14 2086 c.1893C>G c.(1891-1893)acC>acG p.T631T CDH16_ENST00000568632.1_Silent_p.T534T|CDH16_ENST00000565796.1_Silent_p.T631T|CDH16_ENST00000570262.1_Silent_p.T551T|CDH16_ENST00000394055.3_Silent_p.T631T NM_001204744.1|NM_001204745.1|NM_004062.3 NP_001191673.1|NP_001191674.1|NP_004053.1 O75309 CAD16_HUMAN cadherin 16, KSP-cadherin 631 Cadherin 6. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding endometrium(1)|kidney(3)|large_intestine(10)|lung(15)|ovary(2)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 41 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0877)|Epithelial(162;0.203) GCACCGTGTAGGTGTCCCCAG 0.617000 8 24 0 0 1 0 0 NAA15 80155 broad.mit.edu 37 4 140278630 140278630 + Missense_Mutation SNP C C T TCGA-E7-A97P-01A-11D-A38G-08 TCGA-E7-A97P-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18b5c355-e247-4694-9d46-770aa838190c 22cf4b93-69d7-44aa-a47c-b2799d224f5b g.chr4:140278630C>T ENST00000296543.5 + 11 1501 c.1178C>T c.(1177-1179)gCt>gTt p.A393V NAA15_ENST00000398947.1_Missense_Mutation_p.A393V NM_057175.3 NP_476516.1 Q9BXJ9 NAA15_HUMAN N(alpha)-acetyltransferase 15, NatA auxiliary subunit 393 angiogenesis|cell differentiation|N-terminal protein amino acid acetylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|transcription factor complex protein binding NS(1)|endometrium(3)|large_intestine(7)|liver(2)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 29 CCATCTATTGCTTTGGAGTAC 0.348000 8 42 0 0 1 0 0 NBPF3 84224 broad.mit.edu 37 1 21804683 21804683 + Missense_Mutation SNP G G A TCGA-E7-A97P-01A-11D-A38G-08 TCGA-E7-A97P-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18b5c355-e247-4694-9d46-770aa838190c 22cf4b93-69d7-44aa-a47c-b2799d224f5b g.chr1:21804683G>A ENST00000318220.6 + 12 1919 c.871G>A c.(871-873)Gat>Aat p.D291N NBPF3_ENST00000454000.2_Missense_Mutation_p.D277N|NBPF3_ENST00000342104.5_Missense_Mutation_p.D372N|NBPF3_ENST00000318249.5_Missense_Mutation_p.D347N Q9H094 NBPF3_HUMAN neuroblastoma breakpoint family, member 3 347 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) GGAGTCCTGGGATGAAGGTGA 0.512000 56 176 0 0 1 0 0 HRH1 3269 broad.mit.edu 37 3 11300831 11300831 + Silent SNP T T G TCGA-E7-A97P-01A-11D-A38G-08 TCGA-E7-A97P-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18b5c355-e247-4694-9d46-770aa838190c 22cf4b93-69d7-44aa-a47c-b2799d224f5b g.chr3:11300831T>G ENST00000397056.1 + 3 299 c.108T>G c.(106-108)acT>acG p.T36T HRH1_ENST00000438284.2_Silent_p.T36T|HRH1_ENST00000431010.2_Silent_p.T36T NM_000861.3|NM_001098211.1 NP_000852.1|NP_001091681.1 P35367 HRH1_HUMAN histamine receptor H1 36 activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|inflammatory response cytoplasm|integral to plasma membrane|nucleus histamine receptor activity autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 25 Aceprometazine(DB01615)|Astemizole(DB00637)|Azatadine(DB00719)|Azelastine(DB00972)|Benzquinamide(DB00767)|Bepotastine(DB04890)|Bromodiphenhydramine(DB01237)|Brompheniramine(DB00835)|Buclizine(DB00354)|Carbinoxamine(DB00748)|Cetirizine(DB00341)|Chlophedianol(DB04837)|Chlorpheniramine(DB01114)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clemastine(DB00283)|Clozapine(DB00363)|Cyclizine(DB01176)|Cyproheptadine(DB00434)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexbrompheniramine(DB00405)|Dimenhydrinate(DB00985)|Diphenhydramine(DB01075)|Diphenylpyraline(DB01146)|Doxepin(DB01142)|Doxylamine(DB00366)|Emedastine(DB01084)|Epinastine(DB00751)|Fexofenadine(DB00950)|Flunarizine(DB04841)|Histamine Phosphate(DB00667)|Hydroxyzine(DB00557)|Ketotifen(DB00920)|Levocabastine(DB01106)|Loratadine(DB00455)|Maprotiline(DB00934)|Meclizine(DB00737)|Mequitazine(DB01071)|Methdilazine(DB00902)|Methotrimeprazine(DB01403)|Mianserin(DB06148)|Mirtazapine(DB00370)|Nedocromil(DB00716)|Olanzapine(DB00334)|Olopatadine(DB00768)|Orphenadrine(DB01173)|Pemirolast(DB00885)|Phenindamine(DB01619)|Pheniramine(DB01620)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Terfenadine(DB00342)|Thiethylperazine(DB00372)|Trazodone(DB00656)|Trimeprazine(DB01246)|Tripelennamine(DB00792)|Triprolidine(DB00427)|Ziprasidone(DB00246) TCCTGAGCACTATCTGCTTGG 0.572000 14 52 0 0 1 0 0 HIP1 3092 broad.mit.edu 37 7 75183750 75183750 + Missense_Mutation SNP G G A TCGA-E7-A97P-01A-11D-A38G-08 TCGA-E7-A97P-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18b5c355-e247-4694-9d46-770aa838190c 22cf4b93-69d7-44aa-a47c-b2799d224f5b g.chr7:75183750G>A ENST00000336926.6 - 20 2065 c.2039C>T c.(2038-2040)gCc>gTc p.A680V HIP1_ENST00000434438.2_Missense_Mutation_p.A680V NM_005338.5 NP_005329.3 O00291 HIP1_HUMAN huntingtin interacting protein 1 680 activation of caspase activity|cell differentiation|clathrin coat assembly|endocytosis|induction of apoptosis|positive regulation of receptor-mediated endocytosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent clathrin coated vesicle membrane|cytoskeleton|Golgi apparatus|membrane fraction|nucleus actin binding|clathrin binding|phosphatidylinositol binding|structural constituent of cytoskeleton breast(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 TTCTGGGCAGGCCAGATACTG 0.557000 T PDGFRB CMML 7 45 0 0 1 0 0 CPD 1362 broad.mit.edu 37 17 28788315 28788315 + Missense_Mutation SNP A A T TCGA-E7-A97P-01A-11D-A38G-08 TCGA-E7-A97P-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18b5c355-e247-4694-9d46-770aa838190c 22cf4b93-69d7-44aa-a47c-b2799d224f5b g.chr17:28788315A>T ENST00000225719.4 + 18 3692 c.3616A>T c.(3616-3618)Agt>Tgt p.S1206C CPD_ENST00000543464.2_Missense_Mutation_p.S959C NM_001304.4 NP_001295.2 O75976 CBPD_HUMAN carboxypeptidase D 1206 Carboxypeptidase-like 3. proteolysis integral to membrane metallocarboxypeptidase activity|serine-type carboxypeptidase activity|zinc ion binding central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(13)|skin(5)|stomach(1)|urinary_tract(1) 36 ATCTCTTCTTAGTATGTTAGT 0.408000 40 43 0 0 1 0 0 C3P1 388503 broad.mit.edu 37 19 10169269 10169269 + RNA SNP A A G TCGA-E7-A97P-01A-11D-A38G-08 TCGA-E7-A97P-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18b5c355-e247-4694-9d46-770aa838190c 22cf4b93-69d7-44aa-a47c-b2799d224f5b g.chr19:10169269A>G ENST00000495140.1 + 0 1821 endometrium(4)|large_intestine(2)|lung(6)|urinary_tract(1) 13 TCCGAGGAGGATGTATCCCTC 0.547000 9 60 0 0 1 0 0 NAB2 4665 broad.mit.edu 37 12 57485457 57485457 + Silent SNP T T C TCGA-E7-A97P-01A-11D-A38G-08 TCGA-E7-A97P-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18b5c355-e247-4694-9d46-770aa838190c 22cf4b93-69d7-44aa-a47c-b2799d224f5b g.chr12:57485457T>C ENST00000300131.3 + 2 1011 c.633T>C c.(631-633)ccT>ccC p.P211P NAB2_ENST00000342556.6_Silent_p.P211P|NAB2_ENST00000357680.4_Silent_p.P211P|NAB2_ENST00000554718.1_3'UTR NM_005967.3 NP_005958.1 Q15742 NAB2_HUMAN NGFI-A binding protein 2 (EGR1 binding protein 2) 211 cell proliferation|negative regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent nucleus transcription corepressor activity p.P211P(3) breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1) 20 TCTCCCCCCCTGCAGGGGGAG 0.711000 4 30 0 0 1 0 0 MAP3K13 9175 broad.mit.edu 37 3 185191450 185191450 + Silent SNP A A G TCGA-E7-A97P-01A-11D-A38G-08 TCGA-E7-A97P-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18b5c355-e247-4694-9d46-770aa838190c 22cf4b93-69d7-44aa-a47c-b2799d224f5b g.chr3:185191450A>G ENST00000265026.3 + 11 2665 c.2331A>G c.(2329-2331)gaA>gaG p.E777E MAP3K13_ENST00000424227.1_Silent_p.E777E|MAP3K13_ENST00000535426.1_Silent_p.E633E|MAP3K13_ENST00000446828.1_Silent_p.E570E|MAP3K13_ENST00000443863.1_Silent_p.E633E NM_004721.4 NP_004712.1 O43283 M3K13_HUMAN mitogen-activated protein kinase kinase kinase 13 777 activation of MAPKK activity|JNK cascade|positive regulation of NF-kappaB transcription factor activity|protein autophosphorylation cytoplasm|membrane|membrane fraction ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein kinase binding NS(1)|biliary_tract(1)|breast(3)|endometrium(3)|kidney(1)|large_intestine(13)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 54 all_cancers(143;7.21e-11)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;1.93e-20) AGAAAACGGAAGAAAATGAAT 0.542000 33 146 0 0 1 0 0 MRPL49 740 broad.mit.edu 37 11 64893219 64893219 + Missense_Mutation SNP G G T TCGA-E7-A97P-01A-11D-A38G-08 TCGA-E7-A97P-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18b5c355-e247-4694-9d46-770aa838190c 22cf4b93-69d7-44aa-a47c-b2799d224f5b g.chr11:64893219G>T ENST00000279242.2 + 4 395 c.376G>T c.(376-378)Gat>Tat p.D126Y MRPL49_ENST00000534078.1_3'UTR|MRPL49_ENST00000531705.1_Intron|MRPL49_ENST00000524482.1_3'UTR NM_004927.3 NP_004918.1 Q13405 RM49_HUMAN mitochondrial ribosomal protein L49 126 translation mitochondrial ribosome protein binding|structural constituent of ribosome endometrium(1)|ovary(1) 2 AGACGTGGAAGATTTTCTGAG 0.537000 35 105 1.90571e-15 2.2054e-15 1 1 0 KPNA4 3840 broad.mit.edu 37 3 160248719 160248719 + Silent SNP T T C TCGA-E7-A97P-01A-11D-A38G-08 TCGA-E7-A97P-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18b5c355-e247-4694-9d46-770aa838190c 22cf4b93-69d7-44aa-a47c-b2799d224f5b g.chr3:160248719T>C ENST00000334256.4 - 7 698 c.393A>G c.(391-393)ttA>ttG p.L131L NM_002268.4 NP_002259.1 O00629 IMA4_HUMAN karyopherin alpha 4 (importin alpha 3) 131 NLS-bearing substrate import into nucleus cytoplasm|nuclear pore protein binding breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(10)|prostate(2) 22 Lung(72;0.00149)|LUSC - Lung squamous cell carcinoma(72;0.00216) CTTCAAACTGTAAAGAAGGAC 0.338000 10 35 0 0 1 0 0 PDE12 201626 broad.mit.edu 37 3 57545297 57545297 + Missense_Mutation SNP A A G TCGA-E7-A97P-01A-11D-A38G-08 TCGA-E7-A97P-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18b5c355-e247-4694-9d46-770aa838190c 22cf4b93-69d7-44aa-a47c-b2799d224f5b g.chr3:57545297A>G ENST00000311180.8 + 3 1499 c.1396A>G c.(1396-1398)Att>Gtt p.I466V PDE12_ENST00000487257.1_3'UTR NM_177966.5 NP_808881.3 Q6L8Q7 PDE12_HUMAN phosphodiesterase 12 466 hydrolase activity breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|liver(4)|lung(3)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1) 20 KIRC - Kidney renal clear cell carcinoma(284;0.011)|Kidney(284;0.0127) AGGTGGGTATATTCGCCTCAT 0.333000 11 65 0 0 1 0 0 HIST1H2AD 3013 broad.mit.edu 37 6 26199132 26199132 + Missense_Mutation SNP C C G TCGA-E7-A97P-01A-11D-A38G-08 TCGA-E7-A97P-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18b5c355-e247-4694-9d46-770aa838190c 22cf4b93-69d7-44aa-a47c-b2799d224f5b g.chr6:26199132C>G ENST00000341023.1 - 1 339 c.340G>C c.(340-342)Gct>Cct p.A114P HIST1H3D_ENST00000377831.5_5'UTR NM_021065.2 NP_066409.1 P20671 H2A1D_HUMAN histone cluster 1, H2ad 114 nucleosome assembly nucleosome|nucleus DNA binding breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2) 6 all_hematologic(11;0.196) AGCAGTACAGCCTGGATGTTG 0.512000 24 68 0 0 1 0 0 ZNF451 26036 broad.mit.edu 37 6 57012711 57012711 + Missense_Mutation SNP A A G TCGA-E7-A97P-01A-11D-A38G-08 TCGA-E7-A97P-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18b5c355-e247-4694-9d46-770aa838190c 22cf4b93-69d7-44aa-a47c-b2799d224f5b g.chr6:57012711A>G ENST00000370706.4 + 10 2072 c.1828A>G c.(1828-1830)Att>Gtt p.I610V RP11-203B9.4_ENST00000592038.1_RNA|RP11-203B9.4_ENST00000592500.1_RNA|ZNF451_ENST00000491832.2_Missense_Mutation_p.I610V|RP11-203B9.4_ENST00000585792.1_RNA|RP11-203B9.4_ENST00000591553.1_RNA|RP11-203B9.4_ENST00000589549.1_RNA|RP11-203B9.4_ENST00000587815.1_RNA|RP11-203B9.4_ENST00000586668.1_RNA|RP11-203B9.4_ENST00000588811.1_RNA|RP11-203B9.4_ENST00000586053.1_RNA|RP11-203B9.4_ENST00000586432.1_RNA|RP11-203B9.4_ENST00000416069.2_RNA|ZNF451_ENST00000357489.3_Missense_Mutation_p.I610V NM_001031623.2 NP_001026794.1 Q9Y4E5 ZN451_HUMAN zinc finger protein 451 610 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 32 Lung NSC(77;0.145) LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13) GCAATGCCGGATTTGTGAAGA 0.413000 22 51 0 0 1 0 0 CDH23 64072 broad.mit.edu 37 10 73572631 73572631 + Missense_Mutation SNP G G C TCGA-E7-A97P-01A-11D-A38G-08 TCGA-E7-A97P-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18b5c355-e247-4694-9d46-770aa838190c 22cf4b93-69d7-44aa-a47c-b2799d224f5b g.chr10:73572631G>C ENST00000224721.6 + 67 9637 c.9632G>C c.(9631-9633)cGt>cCt p.R3211P CDH23_ENST00000398788.3_Missense_Mutation_p.R966P|CDH23_ENST00000475158.1_3'UTR NM_022124.5 NP_071407.4 Q9H251 CAD23_HUMAN cadherin-related 23 3206 calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound cytosol|integral to membrane|plasma membrane|stereocilium calcium ion binding|protein binding p.R3211H(1) NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3) 133 CAGATCATTCGTGAGGGGCCA 0.597000 6 16 0 0 1 0 0 OSBPL9 114883 broad.mit.edu 37 1 52238337 52238338 + Frame_Shift_Ins INS - - C TCGA-E7-A97P-01A-11D-A38G-08 TCGA-E7-A97P-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18b5c355-e247-4694-9d46-770aa838190c 22cf4b93-69d7-44aa-a47c-b2799d224f5b g.chr1:52238337_52238338insC ENST00000371710.3 + 14 1348_1349 c.1166_1167insC c.(1165-1170)cacaagfs p.K390fs OSBPL9_ENST00000361556.5_Frame_Shift_Ins_p.K262fs|OSBPL9_ENST00000462759.1_Frame_Shift_Ins_p.K194fs|OSBPL9_ENST00000337809.4_Frame_Shift_Ins_p.K377fs|OSBPL9_ENST00000486942.1_Frame_Shift_Ins_p.K194fs|OSBPL9_ENST00000371714.1_Frame_Shift_Ins_p.K359fs|OSBPL9_ENST00000530544.1_Frame_Shift_Ins_p.K291fs|OSBPL9_ENST00000435686.2_Frame_Shift_Ins_p.K207fs|OSBPL9_ENST00000428468.1_Frame_Shift_Ins_p.K372fs|OSBPL9_ENST00000453295.1_Frame_Shift_Ins_p.K355fs|OSBPL9_ENST00000531828.1_Frame_Shift_Ins_p.K207fs|OSBPL9_ENST00000447887.1_Frame_Shift_Ins_p.K382fs NM_024586.5|NM_148906.2 NP_078862.4|NP_683704.2 Q96SU4 OSBL9_HUMAN oxysterol binding protein-like 9 372 lipid transport lipid binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(3)|pancreas(1)|prostate(3)|skin(1) 18 GTGGAGGAGCACAAGAGCGTTA 0.421 19 106 --- --- --- --- PTGFRN 5738 broad.mit.edu 37 1 117504133 117504134 + Frame_Shift_Ins INS - - A TCGA-E7-A97P-01A-11D-A38G-08 TCGA-E7-A97P-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18b5c355-e247-4694-9d46-770aa838190c 22cf4b93-69d7-44aa-a47c-b2799d224f5b g.chr1:117504133_117504134insA ENST00000393203.2 + 5 1629_1630 c.1482_1483insA c.(1483-1485)acafs p.T495fs NM_020440.2 NP_065173.2 Q9P2B2 FPRP_HUMAN prostaglandin F2 receptor inhibitor 495 Ig-like C2-type 4. endoplasmic reticulum membrane|Golgi apparatus|integral to membrane protein binding NS(1)|breast(1)|endometrium(4)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1) 46 Lung SC(450;0.225) all_cancers(81;0.00104)|all_lung(203;8.97e-05)|all_epithelial(167;0.000139)|Lung NSC(69;0.000446) Lung(183;0.0704)|LUSC - Lung squamous cell carcinoma(189;0.227)|Colorectal(144;0.248) CTAAGGAACATACAGACACGTT 0.495 17 75 --- --- --- --- RAD51AP2 729475 broad.mit.edu 37 2 17697922 17697923 + Frame_Shift_Ins INS - - A TCGA-E7-A97P-01A-11D-A38G-08 TCGA-E7-A97P-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18b5c355-e247-4694-9d46-770aa838190c 22cf4b93-69d7-44aa-a47c-b2799d224f5b g.chr2:17697922_17697923insA ENST00000399080.2 - 1 1783_1784 c.1760_1761insT c.(1759-1761)ttgfs p.L587fs NM_001099218.2 NP_001092688.1 Q09MP3 R51A2_HUMAN RAD51 associated protein 2 587 endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(10)|liver(1)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 49 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158) AGTTATTGAGCAAAAAAGCTAT 0.252 17 68 --- --- --- --- MAP4K3 8491 broad.mit.edu 37 2 39514002 39514006 + Frame_Shift_Del DEL TTTCT TTTCT - TCGA-E7-A97P-01A-11D-A38G-08 TCGA-E7-A97P-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18b5c355-e247-4694-9d46-770aa838190c 22cf4b93-69d7-44aa-a47c-b2799d224f5b g.chr2:39514002_39514006delTTTCT ENST00000263881.3 - 21 1898_1902 c.1574_1578delAGAAA c.(1573-1578)aagaaafs p.KK525fs MAP4K3_ENST00000536018.1_Frame_Shift_Del_p.KK78fs|MAP4K3_ENST00000437545.1_Frame_Shift_Del_p.KK441fs|MAP4K3_ENST00000341681.5_Frame_Shift_Del_p.KK504fs NM_003618.3 NP_003609.2 Q8IVH8 M4K3_HUMAN mitogen-activated protein kinase kinase kinase kinase 3 525 JNK cascade ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity NS(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 44 all_hematologic(82;0.211) CTGGTACATCTTTCTTTTCTTTTCT 0.341 11 63 --- --- --- --- GALNT5 11227 broad.mit.edu 37 2 158114759 158114782 + In_Frame_Del DEL AGGATTCAGAGTTCAGCCAGACCA AGGATTCAGAGTTCAGCCAGACCA - rs150999331 byFrequency TCGA-E7-A97P-01A-11D-A38G-08 TCGA-E7-A97P-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18b5c355-e247-4694-9d46-770aa838190c 22cf4b93-69d7-44aa-a47c-b2799d224f5b g.chr2:158114759_158114782delAGGATTCAGAGTTCAGCCAGACCA ENST00000259056.4 + 1 650_673 c.165_188delAGGATTCAGAGTTCAGCCAGACCA c.(163-189)ataggattcagagttcagccagaccaa>ata p.GFRVQPDQ56del NM_014568.1 NP_055383.1 Q7Z7M9 GALT5_HUMAN UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 5 (GalNAc-T5) 56 glycosaminoglycan biosynthetic process Golgi membrane|integral to membrane polypeptide N-acetylgalactosaminyltransferase activity|sugar binding breast(4)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(12)|lung(20)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2) 56 GGGAGCGGATAGGATTCAGAGTTCAGCCAGACCAAGGAAAAATT 0.482 7 121 --- --- --- --- FCHO2 115548 broad.mit.edu 37 5 72377796 72377797 + Frame_Shift_Del DEL CC CC - TCGA-E7-A97P-01A-11D-A38G-08 TCGA-E7-A97P-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18b5c355-e247-4694-9d46-770aa838190c 22cf4b93-69d7-44aa-a47c-b2799d224f5b g.chr5:72377796_72377797delCC ENST00000430046.2 + 23 2283_2284 c.2167_2168delCC c.(2167-2169)cccfs p.P724fs FCHO2_ENST00000341845.6_Frame_Shift_Del_p.P724fs|FCHO2_ENST00000512348.1_Frame_Shift_Del_p.P691fs NM_001146032.1|NM_138782.2 NP_001139504.1|NP_620137.2 Q0JRZ9 FCHO2_HUMAN FCH domain only 2 724 cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|prostate(1) 17 Lung NSC(167;0.0465)|Ovarian(174;0.0908)|Prostate(461;0.165) OV - Ovarian serous cystadenocarcinoma(47;4.6e-53) GCAGTCCCTTCCCCCTGCAATA 0.411 26 78 --- --- --- --- DMXL1 1657 broad.mit.edu 37 5 118437645 118437645 + Frame_Shift_Del DEL G G - TCGA-E7-A97P-01A-11D-A38G-08 TCGA-E7-A97P-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18b5c355-e247-4694-9d46-770aa838190c 22cf4b93-69d7-44aa-a47c-b2799d224f5b g.chr5:118437645delG ENST00000311085.8 + 3 309 c.229delG c.(229-231)ggafs p.G77fs DMXL1_ENST00000539542.1_Frame_Shift_Del_p.G77fs NM_005509.4 NP_005500.4 Q9Y485 DMXL1_HUMAN Dmx-like 1 77 breast(3)|central_nervous_system(1)|endometrium(14)|kidney(4)|large_intestine(20)|liver(6)|lung(28)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(1) 86 all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231) OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243) AGCGTCTTATGGAAATGTTAT 0.249 10 29 --- --- --- --- FOXQ1 94234 broad.mit.edu 37 6 1313374 1313376 + In_Frame_Del DEL CAA CAA - TCGA-E7-A97P-01A-11D-A38G-08 TCGA-E7-A97P-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18b5c355-e247-4694-9d46-770aa838190c 22cf4b93-69d7-44aa-a47c-b2799d224f5b g.chr6:1313374_1313376delCAA ENST00000296839.2 + 1 700_702 c.435_437delCAA c.(433-438)atcaac>atc p.N146del NM_033260.3 NP_150285.3 Q9C009 FOXQ1_HUMAN forkhead box Q1 146 DNA fragmentation involved in apoptotic nuclear change|embryo development|hair follicle morphogenesis|pattern specification process|positive regulation of caspase activity|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity transcription factor complex caspase regulator activity|DNA bending activity|double-stranded DNA binding|estrogen receptor binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|ubiquitin conjugating enzyme binding lung(1)|urinary_tract(1) 2 Ovarian(93;0.0733) Breast(5;0.052)|all_lung(73;0.0713)|all_hematologic(90;0.0895) OV - Ovarian serous cystadenocarcinoma(45;0.0954)|BRCA - Breast invasive adenocarcinoma(62;0.18) TGGCGGAGATCAACGAGTACCTC 0.640 8 33 --- --- --- --- GRIK2 2898 broad.mit.edu 37 6 102483437 102483459 + Splice_Site DEL CATGGGTAGGTTATATGTCAGCT CATGGGTAGGTTATATGTCAGCT - TCGA-E7-A97P-01A-11D-A38G-08 TCGA-E7-A97P-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18b5c355-e247-4694-9d46-770aa838190c 22cf4b93-69d7-44aa-a47c-b2799d224f5b g.chr6:102483437_102483459delCATGGGTAGGTTATATGTCAGCT ENST00000369138.1 + 14 2797_2801 c.2307_2311delCATGGGTAGGTTATATGTCAGCT c.(2305-2313)cccatgggt>ccgt p.MG770fs GRIK2_ENST00000421544.1_Splice_Site_p.MG770fs|GRIK2_ENST00000369134.4_Splice_Site_p.MG721fs|GRIK2_ENST00000318991.6_Splice_Site_p.MG770fs|GRIK2_ENST00000369137.3_Splice_Site_p.MG694fs|GRIK2_ENST00000413795.1_Splice_Site_p.MG770fs NM_001166247.1 NP_001159719.1 Q13002 GRIK2_HUMAN glutamate receptor, ionotropic, kainate 2 770 glutamate signaling pathway|induction of programmed cell death in response to chemical stimulus|neuron apoptosis|positive regulation of synaptic transmission|regulation of short-term neuronal synaptic plasticity cell junction|postsynaptic membrane extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity p.P769>?(2)|p.?(2) NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 83 all_cancers(76;1.19e-07)|Acute lymphoblastic leukemia(125;6.17e-11)|all_hematologic(75;6.01e-08)|all_epithelial(87;0.0121)|Colorectal(196;0.14) all cancers(137;0.112)|BRCA - Breast invasive adenocarcinoma(108;0.124)|GBM - Glioblastoma multiforme(226;0.206) L-Glutamic Acid(DB00142) TTGGCACTCCCATGGGTAGGTTATATGTCAGCTCTTTGTTCTT 0.426 13 110 --- --- --- --- UPF2 26019 broad.mit.edu 37 10 11963300 11963304 + Frame_Shift_Del DEL ACGTC ACGTC - TCGA-E7-A97P-01A-11D-A38G-08 TCGA-E7-A97P-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18b5c355-e247-4694-9d46-770aa838190c 22cf4b93-69d7-44aa-a47c-b2799d224f5b g.chr10:11963300_11963304delACGTC ENST00000356352.2 - 21 4285_4289 c.3812_3816delGACGT c.(3811-3816)agacgtfs p.RR1271fs UPF2_ENST00000357604.5_Frame_Shift_Del_p.RR1271fs|UPF2_ENST00000397053.2_Frame_Shift_Del_p.RR1271fs Q9HAU5 RENT2_HUMAN UPF2 regulator of nonsense transcripts homolog (yeast) 1271 Sufficient for interaction with EIF4A1 and EIF1.|Sufficient for interaction with UPF1 C- terminus. mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay exon-exon junction complex|perinuclear region of cytoplasm identical protein binding|RNA binding breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(14)|lung(17)|ovary(2)|skin(3)|urinary_tract(2) 56 Renal(717;0.228) TGCTGGATCAACGTCTCCTAAAGGA 0.498 13 108 --- --- --- --- LIMA1 51474 broad.mit.edu 37 12 50616126 50616145 + Frame_Shift_Del DEL TGGTCTGCTCTGTGCCTAAT TGGTCTGCTCTGTGCCTAAT - TCGA-E7-A97P-01A-11D-A38G-08 TCGA-E7-A97P-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18b5c355-e247-4694-9d46-770aa838190c 22cf4b93-69d7-44aa-a47c-b2799d224f5b g.chr12:50616126_50616145delTGGTCTGCTCTGTGCCTAAT ENST00000341247.4 - 4 438_457 c.289_308delATTAGGCACAGAGCAGACCA c.(289-309)attaggcacagagcagaccatfs p.IRHRADH97fs LIMA1_ENST00000552909.1_5'UTR|LIMA1_ENST00000552783.1_5'UTR|LIMA1_ENST00000394943.3_Frame_Shift_Del_p.IRHRADH97fs|LIMA1_ENST00000552823.1_5'UTR|RP3-405J10.4_ENST00000551284.1_RNA NM_001113546.1|NM_016357.4 NP_001107018.1|NP_057441.1 Q9UHB6 LIMA1_HUMAN LIM domain and actin binding 1 97 actin filament bundle assembly|negative regulation of actin filament depolymerization|ruffle organization cytoplasm|focal adhesion|stress fiber actin filament binding|actin monomer binding|zinc ion binding p.D102V(1) NS(1)|breast(4)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(2) 44 AGCAGGAGGATGGTCTGCTCTGTGCCTAATCTCAGTGCTG 0.532 8 101 --- --- --- --- SPPL3 121665 broad.mit.edu 37 12 121205247 121205247 + Frame_Shift_Del DEL C C - TCGA-E7-A97P-01A-11D-A38G-08 TCGA-E7-A97P-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18b5c355-e247-4694-9d46-770aa838190c 22cf4b93-69d7-44aa-a47c-b2799d224f5b g.chr12:121205247delC ENST00000353487.2 - 9 1426 c.923delG c.(922-924)cgcfs p.R308fs NM_139015.4 NP_620584.2 Q8TCT6 PSL4_HUMAN signal peptide peptidase like 3 309 integral to membrane aspartic-type endopeptidase activity all_neural(191;0.0684)|Medulloblastoma(191;0.0922) CTTCTGCATGCGCCCGGAGAT 0.542 10 44 --- --- --- --- FBN1 2200 broad.mit.edu 37 15 48779348 48779348 + Frame_Shift_Del DEL G G - TCGA-E7-A97P-01A-11D-A38G-08 TCGA-E7-A97P-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18b5c355-e247-4694-9d46-770aa838190c 22cf4b93-69d7-44aa-a47c-b2799d224f5b g.chr15:48779348delG ENST00000316623.5 - 29 3968 c.3513delC c.(3511-3513)tgcfs p.C1171fs NM_000138.4 NP_000129 P35555 FBN1_HUMAN fibrillin 1 1171 EGF-like 18; calcium-binding. C -> W (in MFS). heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development basement membrane|extracellular space|microfibril calcium ion binding|extracellular matrix structural constituent|protein binding NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 139 all_lung(180;0.00279) all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05) TGAGGTTCACGCAACGGCCAT 0.433 13 48 --- --- --- --- TRAF7 84231 broad.mit.edu 37 16 2226345 2226345 + Frame_Shift_Del DEL G G - TCGA-E7-A97P-01A-11D-A38G-08 TCGA-E7-A97P-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18b5c355-e247-4694-9d46-770aa838190c 22cf4b93-69d7-44aa-a47c-b2799d224f5b g.chr16:2226345delG ENST00000326181.6 + 20 2090 c.1958delG c.(1957-1959)cggfs p.R653fs NM_032271.2 NP_115647.2 Q6Q0C0 TRAF7_HUMAN TNF receptor-associated factor 7, E3 ubiquitin protein ligase 653 activation of MAPKKK activity|apoptosis|regulation of apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasmic membrane-bounded vesicle|ubiquitin ligase complex identical protein binding|ubiquitin-protein ligase activity|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|skin(1) 23 GCTGTGTCCCGGGGCCGACTC 0.637 2 4 --- --- --- --- PPP4R1 9989 broad.mit.edu 37 18 9583194 9583214 + In_Frame_Del DEL GAAACCGCCATGAAGCATTCA GAAACCGCCATGAAGCATTCA - TCGA-E7-A97P-01A-11D-A38G-08 TCGA-E7-A97P-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18b5c355-e247-4694-9d46-770aa838190c 22cf4b93-69d7-44aa-a47c-b2799d224f5b g.chr18:9583194_9583214delGAAACCGCCATGAAGCATTCA ENST00000400556.3 - 9 892_912 c.819_839delTGAATGCTTCATGGCGGTTTC c.(817-840)gctgaatgcttcatggcggtttca>gca p.ECFMAVS274del PPP4R1_ENST00000400555.3_In_Frame_Del_p.ECFMAVS257del|PPP4R1_ENST00000580583.1_Intron NM_001042388.2 NP_001035847.1 Q8TF05 PP4R1_HUMAN protein phosphatase 4, regulatory subunit 1 274 protein phosphorylation|signal transduction protein phosphatase 4 complex protein binding|protein phosphatase type 4 regulator activity large_intestine(1)|skin(2) 3 TGTTGCACATGAAACCGCCATGAAGCATTCAGCACAAGCCT 0.398 7 54 --- --- --- --- TMC4 147798 broad.mit.edu 37 19 54675747 54675749 + In_Frame_Del DEL TCC TCC - TCGA-E7-A97P-01A-11D-A38G-08 TCGA-E7-A97P-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18b5c355-e247-4694-9d46-770aa838190c 22cf4b93-69d7-44aa-a47c-b2799d224f5b g.chr19:54675747_54675749delTCC ENST00000376591.4 - 2 332_334 c.201_203delGGA c.(199-204)gaggat>gat p.E67del TMC4_ENST00000301187.4_In_Frame_Del_p.E61del NM_001145303.1|NM_144686.2 NP_001138775|NP_653287.2 Q7Z404 TMC4_HUMAN transmembrane channel-like 4 67 Poly-Glu. integral to membrane breast(2)|endometrium(7)|large_intestine(4)|lung(6)|pancreas(1)|skin(1)|urinary_tract(1) 22 all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19) CCTTCCTCCATCCTCCTCCTCCT 0.645 7 59 --- --- --- ---