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 C1orf106 55765 broad.mit.edu 37 1 200880764 200880764 + Missense_Mutation SNP C C A TCGA-NG-A4VW-01A-11D-A28R-08 TCGA-NG-A4VW-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 036c7c6a-32e0-4837-a8a6-4d230860dc1c c3915350-561b-448e-af59-7d96f4e95b64 g.chr1:200880764C>A ENST00000367342.4 + 9 1598 c.1398C>A c.(1396-1398)caC>caA p.H466Q C1orf106_ENST00000413687.2_Missense_Mutation_p.H381Q NM_018265.3 NP_060735.3 Q3KP66 CA106_HUMAN chromosome 1 open reading frame 106 466 endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(2) 21 GCATCTCCCACCCCACTTCGC 0.677000 30 263 2.25844e-05 2.32031e-05 1 1 0 BCLAF1 9774 broad.mit.edu 37 6 136599647 136599647 + Missense_Mutation SNP T T G TCGA-NG-A4VW-01A-11D-A28R-08 TCGA-NG-A4VW-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 036c7c6a-32e0-4837-a8a6-4d230860dc1c c3915350-561b-448e-af59-7d96f4e95b64 g.chr6:136599647T>G ENST00000531224.1 - 4 624 c.372A>C c.(370-372)agA>agC p.R124S BCLAF1_ENST00000530767.1_Missense_Mutation_p.R124S|BCLAF1_ENST00000527759.1_Missense_Mutation_p.R122S|BCLAF1_ENST00000527536.1_Missense_Mutation_p.R124S|BCLAF1_ENST00000353331.4_Missense_Mutation_p.R122S|BCLAF1_ENST00000392348.2_Missense_Mutation_p.R122S NM_001077441.1|NM_014739.2 NP_001070909.1|NP_055554.1 Q9NYF8 BCLF1_HUMAN BCL2-associated transcription factor 1 124 induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleolus DNA binding|protein binding haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1) 9 Colorectal(23;0.24) GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331) TGCTTCTGGATCTTTGAGAAG 0.448000 14 210 0 0 1 0 0 CNGA3 1261 broad.mit.edu 37 2 98999903 98999903 + Splice_Site SNP G G A TCGA-NG-A4VW-01A-11D-A28R-08 TCGA-NG-A4VW-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 036c7c6a-32e0-4837-a8a6-4d230860dc1c c3915350-561b-448e-af59-7d96f4e95b64 g.chr2:98999903G>A ENST00000393504.1 + 5 865 c.449_splice c.e5+1 p.E150_splice CNGA3_ENST00000436404.2_Intron|CNGA3_ENST00000409937.1_Splice_Site_p.E154_splice|CNGA3_ENST00000272602.2_Splice_Site_p.E150_splice NM_001298.2 NP_001289.1 Q16281 CNGA3_HUMAN cyclic nucleotide gated channel alpha 3 150 signal transduction|visual perception integral to membrane cGMP binding breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(17)|ovary(5)|prostate(3)|skin(4)|upper_aerodigestive_tract(3) 49 CACGGAGGAGGAGTAAGTACC 0.592000 19 75 0 0 1 0 0 ZBTB7B 51043 broad.mit.edu 37 1 154988215 154988215 + Missense_Mutation SNP A A G TCGA-NG-A4VW-01A-11D-A28R-08 TCGA-NG-A4VW-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 036c7c6a-32e0-4837-a8a6-4d230860dc1c c3915350-561b-448e-af59-7d96f4e95b64 g.chr1:154988215A>G ENST00000368426.3 + 3 1216 c.1079A>G c.(1078-1080)aAa>aGa p.K360R ZBTB7B_ENST00000535420.1_Missense_Mutation_p.K360R|ZBTB7B_ENST00000292176.2_Missense_Mutation_p.K360R|ZBTB7B_ENST00000417934.2_Missense_Mutation_p.K394R NM_001256455.1 NP_001243384.1 O15156 ZBT7B_HUMAN zinc finger and BTB domain containing 7B 360 cell differentiation|ectoderm development|multicellular organismal development|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter nucleus DNA binding|zinc ion binding endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(1)|prostate(3)|skin(3) 29 all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877) BRCA - Breast invasive adenocarcinoma(34;0.00034) GGGGCAGGCAAACTGCCTCGC 0.632000 17 117 0 0 1 0 0 MYOM3 127294 broad.mit.edu 37 1 24390563 24390563 + Splice_Site SNP G G A TCGA-NG-A4VW-01A-11D-A28R-08 TCGA-NG-A4VW-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 036c7c6a-32e0-4837-a8a6-4d230860dc1c c3915350-561b-448e-af59-7d96f4e95b64 g.chr1:24390563G>A ENST00000330966.7 - 30 3792 c.3631_splice c.e30+1 p.D1210_splice RP11-293P20.2_ENST00000439239.2_RNA|MYOM3_ENST00000374434.3_Splice_Site_p.D1207_splice|MYOM3_ENST00000338909.5_Splice_Site_p.D100_splice Q5VTT5 MYOM3_HUMAN myomesin 3 1207 NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(3)|lung(40)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2) 68 Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153) AGCTCCTACCGTCACCCGTGA 0.522000 12 68 0 0 1 0 0 WNT10A 80326 broad.mit.edu 37 2 219747080 219747080 + Missense_Mutation SNP G G A TCGA-NG-A4VW-01A-11D-A28R-08 TCGA-NG-A4VW-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 036c7c6a-32e0-4837-a8a6-4d230860dc1c c3915350-561b-448e-af59-7d96f4e95b64 g.chr2:219747080G>A ENST00000258411.3 + 2 944 c.311G>A c.(310-312)cGc>cAc p.R104H NM_025216.2 NP_079492.2 Q9GZT5 WN10A_HUMAN wingless-type MMTV integration site family, member 10A 104 anterior/posterior pattern formation|axis specification|canonical Wnt receptor signaling pathway|cellular response to transforming growth factor beta stimulus|female gonad development|hair follicle morphogenesis|odontogenesis|regulation of odontogenesis of dentine-containing tooth|sebaceous gland development|skin development|tongue development|Wnt receptor signaling pathway, calcium modulating pathway extracellular space|plasma membrane|proteinaceous extracellular matrix G-protein-coupled receptor binding|signal transducer activity breast(1)|cervix(1)|endometrium(2)|lung(6)|skin(2) 12 Renal(207;0.0474) Epithelial(149;4.26e-07)|all cancers(144;8.8e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) AGGGACCAGCGCTGGAACTGC 0.597000 16 112 0 0 1 0 0 TNIP1 10318 broad.mit.edu 37 5 150436454 150436454 + Missense_Mutation SNP G G A TCGA-NG-A4VW-01A-11D-A28R-08 TCGA-NG-A4VW-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 036c7c6a-32e0-4837-a8a6-4d230860dc1c c3915350-561b-448e-af59-7d96f4e95b64 g.chr5:150436454G>A ENST00000389378.2 - 6 1088 c.500C>T c.(499-501)aCg>aTg p.T167M TNIP1_ENST00000522226.1_Missense_Mutation_p.T167M|TNIP1_ENST00000520931.1_Missense_Mutation_p.T114M|TNIP1_ENST00000524280.1_Missense_Mutation_p.T167M|TNIP1_ENST00000315050.7_Missense_Mutation_p.T167M|TNIP1_ENST00000523338.1_Missense_Mutation_p.T167M|TNIP1_ENST00000523200.1_Missense_Mutation_p.T167M|TNIP1_ENST00000521591.1_Missense_Mutation_p.T167M|TNIP1_ENST00000518977.1_Missense_Mutation_p.T167M NM_001252385.1|NM_001252393.1|NM_001258454.1|NM_006058.4 NP_001239314.1|NP_001239322.1|NP_001245383.1|NP_006049.3 Q15025 TNIP1_HUMAN TNFAIP3 interacting protein 1 167 Interacts with Nef. defense response|glycoprotein biosynthetic process|negative regulation of viral genome replication|translation cytoplasm|nucleus protein binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(1)|lung(5)|ovary(2)|prostate(2)|skin(3) 23 Medulloblastoma(196;0.0911)|all_hematologic(541;0.207) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) CACACTCAGCGTGGTCTCCAG 0.672000 14 60 0 0 1 0 0 AQP5 362 broad.mit.edu 37 12 50358866 50358866 + Missense_Mutation SNP G G A rs148637740 TCGA-NG-A4VW-01A-11D-A28R-08 TCGA-NG-A4VW-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 036c7c6a-32e0-4837-a8a6-4d230860dc1c c3915350-561b-448e-af59-7d96f4e95b64 g.chr12:50358866G>A ENST00000293599.6 + 4 852 c.704G>A c.(703-705)cGt>cAt p.R235H NM_001651.2 NP_001642.1 P55064 AQP5_HUMAN aquaporin 5 235 carbon dioxide transport|excretion|odontogenesis|pancreatic juice secretion apical plasma membrane|integral to plasma membrane protein binding|water channel activity large_intestine(1)|lung(3) 4 CTGAGTGAGCGTGTGGCCATC 0.607000 15 76 0 0 1 0 0 ZBTB7B 51043 broad.mit.edu 37 1 154988223 154988223 + Missense_Mutation SNP C C T TCGA-NG-A4VW-01A-11D-A28R-08 TCGA-NG-A4VW-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 036c7c6a-32e0-4837-a8a6-4d230860dc1c c3915350-561b-448e-af59-7d96f4e95b64 g.chr1:154988223C>T ENST00000368426.3 + 3 1224 c.1087C>T c.(1087-1089)Cgc>Tgc p.R363C ZBTB7B_ENST00000535420.1_Missense_Mutation_p.R363C|ZBTB7B_ENST00000292176.2_Missense_Mutation_p.R363C|ZBTB7B_ENST00000417934.2_Missense_Mutation_p.R397C NM_001256455.1 NP_001243384.1 O15156 ZBT7B_HUMAN zinc finger and BTB domain containing 7B 363 cell differentiation|ectoderm development|multicellular organismal development|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter nucleus DNA binding|zinc ion binding endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(1)|prostate(3)|skin(3) 29 all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877) BRCA - Breast invasive adenocarcinoma(34;0.00034) CAAACTGCCTCGCCACATGAG 0.637000 69 72 0 0 1 0 0 GAS2L2 246176 broad.mit.edu 37 17 34073283 34073283 + Silent SNP G G A TCGA-NG-A4VW-01A-11D-A28R-08 TCGA-NG-A4VW-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 036c7c6a-32e0-4837-a8a6-4d230860dc1c c3915350-561b-448e-af59-7d96f4e95b64 g.chr17:34073283G>A ENST00000254466.6 - 6 1260 c.1233C>T c.(1231-1233)ctC>ctT p.L411L GAS2L2_ENST00000587565.1_Silent_p.L395L NM_139285.3 NP_644814.1 Q8NHY3 GA2L2_HUMAN growth arrest-specific 2 like 2 411 cell cycle arrest cytoplasm|cytoskeleton central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 35 Ovarian(249;0.17) UCEC - Uterine corpus endometrioid carcinoma (308;0.0182) TTCCCCTGGGGAGTTCAGGGG 0.597000 30 156 0 0 1 0 0 POLR3F 10621 broad.mit.edu 37 20 18462374 18462374 + Missense_Mutation SNP G G A TCGA-NG-A4VW-01A-11D-A28R-08 TCGA-NG-A4VW-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 036c7c6a-32e0-4837-a8a6-4d230860dc1c c3915350-561b-448e-af59-7d96f4e95b64 g.chr20:18462374G>A ENST00000377603.4 + 8 1173 c.793G>A c.(793-795)Gga>Aga p.G265R POLR3F_ENST00000462997.1_3'UTR NM_006466.2 NP_006457.2 Q9H1D9 RPC6_HUMAN polymerase (RNA) III (DNA directed) polypeptide F, 39 kDa 265 AKEGTVGSVDGHMKLYRAVNPIIPPTGLVRAPCGLC -> C KRRHSWQCRWTHETVQGSQSNHPSHRFGPGHPVDSA (in Ref. 1). innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|regulation of transcription from RNA polymerase III promoter|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter DNA-directed RNA polymerase III complex DNA binding|DNA-directed RNA polymerase activity|protein binding breast(2) 2 CAGTGTAGATGGACACATGAA 0.478000 6 281 0 0 1 0 0 PSMG2 56984 broad.mit.edu 37 18 12725487 12725487 + Nonsense_Mutation SNP G G A TCGA-NG-A4VW-01A-11D-A28R-08 TCGA-NG-A4VW-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 036c7c6a-32e0-4837-a8a6-4d230860dc1c c3915350-561b-448e-af59-7d96f4e95b64 g.chr18:12725487G>A ENST00000317615.6 + 7 1434 c.752G>A c.(751-753)tGg>tAg p.W251* RP11-973H7.2_ENST00000585331.1_RNA NM_020232.4|NM_147163.1 NP_064617.2|NP_671692.1 Q969U7 PSMG2_HUMAN proteasome (prosome, macropain) assembly chaperone 2 251 proteasome assembly nucleus protein binding lung(1)|prostate(2)|skin(1) 4 CCAAGTTCTTGGAGATTACTC 0.373000 18 84 0 0 1 0 0 NR6A1 2649 broad.mit.edu 37 9 127300415 127300415 + Silent SNP G G A TCGA-NG-A4VW-01A-11D-A28R-08 TCGA-NG-A4VW-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 036c7c6a-32e0-4837-a8a6-4d230860dc1c c3915350-561b-448e-af59-7d96f4e95b64 g.chr9:127300415G>A ENST00000487099.2 - 6 937 c.780C>T c.(778-780)gcC>gcT p.A260A NR6A1_ENST00000416460.2_Silent_p.A255A|NR6A1_ENST00000344523.4_Silent_p.A259A|NR6A1_ENST00000373584.3_Silent_p.A256A NM_001278546.1 NP_001265475.1 Q15406 NR6A1_HUMAN nuclear receptor subfamily 6, group A, member 1 260 cell proliferation|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|spermatogenesis transcription factor complex protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding NS(1)|breast(1)|cervix(1)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|skin(1) 17 CCAGGTCCTCGGCTGATAACA 0.557000 10 58 0 0 1 0 0 RB1 5925 broad.mit.edu 37 13 48916759 48916759 + Nonsense_Mutation SNP G G T TCGA-NG-A4VW-01A-11D-A28R-08 TCGA-NG-A4VW-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 036c7c6a-32e0-4837-a8a6-4d230860dc1c c3915350-561b-448e-af59-7d96f4e95b64 g.chr13:48916759G>T ENST00000267163.4 + 3 427 c.289G>T c.(289-291)Gaa>Taa p.E97* NM_000321.2 NP_000312.2 P06400 RB_HUMAN retinoblastoma 1 97 androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation chromatin|PML body|Rb-E2F complex|SWI/SNF complex androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding p.0?(15)|p.?(5)|p.E97fs*14(2) NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31) 496 all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301) GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013) Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071) AAAGAAAAAGGAACTGTGGGG 0.313000 6 """D, Mis, N, F, S""" """retinoblastoma, sarcoma, breast, small cell lung""" """retinoblastoma, sarcoma, breast, small cell lung""" Hereditary Retinoblastoma TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080) 9 46 3.09899e-07 3.22811e-07 1 1 0 CLLU1OS 574016 broad.mit.edu 37 12 92821902 92821902 + Silent SNP G G A TCGA-NG-A4VW-01A-11D-A28R-08 TCGA-NG-A4VW-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 036c7c6a-32e0-4837-a8a6-4d230860dc1c c3915350-561b-448e-af59-7d96f4e95b64 g.chr12:92821902G>A ENST00000378487.2 - 1 22 c.21C>T c.(19-21)aaC>aaT p.N7N RP11-693J15.4_ENST00000508671.1_RNA|CLLU1_ENST00000378485.1_Intron|CLLU1OS_ENST00000538965.1_Silent_p.N7N|CLLU1_ENST00000472839.2_Intron NM_001025232.1 NP_001020403.1 Q5K130 CLU1O_HUMAN chronic lymphocytic leukemia up-regulated 1 opposite strand 7 p.N7K(1) large_intestine(1)|lung(7) 8 ccttaagttcgttgtgcccca 0.423000 6 36 0 0 1 0 0 ANKRD30BP2 0 broad.mit.edu 37 21 14414844 14414844 + RNA SNP T T C rs148060711 by1000genomes TCGA-NG-A4VW-01A-11D-A28R-08 TCGA-NG-A4VW-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 036c7c6a-32e0-4837-a8a6-4d230860dc1c c3915350-561b-448e-af59-7d96f4e95b64 g.chr21:14414844T>C ENST00000507941.1 + 0 95 ACTGGGCCTGTGCCAATGGCC 0.433000 6 44 0 0 1 0 0 C19orf57 79173 broad.mit.edu 37 19 14000258 14000258 + Missense_Mutation SNP C C T TCGA-NG-A4VW-01A-11D-A28R-08 TCGA-NG-A4VW-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 036c7c6a-32e0-4837-a8a6-4d230860dc1c c3915350-561b-448e-af59-7d96f4e95b64 g.chr19:14000258C>T ENST00000454313.1 - 6 1469 c.1411G>A c.(1411-1413)Gag>Aag p.E471K C19orf57_ENST00000586783.1_Missense_Mutation_p.E471K|C19orf57_ENST00000346736.2_Missense_Mutation_p.E471K|C19orf57_ENST00000591586.1_Intron Q0VDD7 CS057_HUMAN chromosome 19 open reading frame 57 471 multicellular organismal development protein binding breast(2)|kidney(1)|lung(3)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 14 OV - Ovarian serous cystadenocarcinoma(19;2e-21) CGGAACCCCTCGAGGTCTCGT 0.597000 20 123 0 0 1 0 0 PTEN 5728 broad.mit.edu 37 10 89653815 89653815 + Missense_Mutation SNP C C T TCGA-NG-A4VW-01A-11D-A28R-08 TCGA-NG-A4VW-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 036c7c6a-32e0-4837-a8a6-4d230860dc1c c3915350-561b-448e-af59-7d96f4e95b64 g.chr10:89653815C>T ENST00000371953.3 + 2 1470 c.113C>T c.(112-114)cCt>cTt p.P38L NM_000314.4 NP_000305.3 P60484 PTEN_HUMAN phosphatase and tensin homolog 38 Phosphatase tensin-type. activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway cytosol|internal side of plasma membrane|PML body anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity p.0?(37)|p.?(8)|p.Y27fs*1(2)|p.P38R(1) NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17) 2771 all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132) KIRC - Kidney renal clear cell carcinoma(1;0.214) UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218) ATGGGATTTCCTGCAGAAAGA 0.289000 31 """D, Mis, N, F, S""" """glioma, prostate, endometrial""" """harmartoma, glioma, prostate, endometrial""" Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18) 7 55 0 0 1 0 0 C4orf40 401137 broad.mit.edu 37 4 71021774 71021774 + Missense_Mutation SNP C C T TCGA-NG-A4VW-01A-11D-A28R-08 TCGA-NG-A4VW-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 036c7c6a-32e0-4837-a8a6-4d230860dc1c c3915350-561b-448e-af59-7d96f4e95b64 g.chr4:71021774C>T ENST00000344526.5 + 2 244 c.55C>T c.(55-57)Cgg>Tgg p.R19W C4orf40_ENST00000502441.2_3'UTR|C4orf40_ENST00000502294.1_Missense_Mutation_p.R19W NM_214711.3 NP_999876.2 Q6MZM9 CD040_HUMAN chromosome 4 open reading frame 40 19 extracellular region p.R19W(1) breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 12 ATTTTAGAGACGGTTCCCCTT 0.259000 6 27 0 0 1 0 0 LL22NC03-80A10.6 0 broad.mit.edu 37 22 22664115 22664115 + RNA SNP A A T TCGA-NG-A4VW-01A-11D-A28R-08 TCGA-NG-A4VW-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 036c7c6a-32e0-4837-a8a6-4d230860dc1c c3915350-561b-448e-af59-7d96f4e95b64 g.chr22:22664115A>T ENST00000426066.1 + 0 638 NR_027293.1 TGTTTAATTCAGCCTTGGAAG 0.413000 4 69 0 0 1 0 0 SOWAHD 347454 broad.mit.edu 37 X 118893526 118893526 + Missense_Mutation SNP C C T TCGA-NG-A4VW-01A-11D-A28R-08 TCGA-NG-A4VW-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 036c7c6a-32e0-4837-a8a6-4d230860dc1c c3915350-561b-448e-af59-7d96f4e95b64 g.chrX:118893526C>T ENST00000343905.3 + 1 951 c.896C>T c.(895-897)gCg>gTg p.A299V NM_001105576.2 NP_001099046.1 A6NJG2 ANR58_HUMAN sosondowah ankyrin repeat domain family member D 299 AGCCGGGTGGCGCAAATGCAT 0.647000 7 25 0 0 1 0 0 SPCS2 9789 broad.mit.edu 37 11 74687936 74687936 + Missense_Mutation SNP A A G TCGA-NG-A4VW-01A-11D-A28R-08 TCGA-NG-A4VW-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 036c7c6a-32e0-4837-a8a6-4d230860dc1c c3915350-561b-448e-af59-7d96f4e95b64 g.chr11:74687936A>G ENST00000263672.6 + 5 568 c.529A>G c.(529-531)Atc>Gtc p.I177V SPCS2_ENST00000528265.1_Intron|SPCS2_ENST00000526361.1_Missense_Mutation_p.I38V|SPCS2_ENST00000530257.1_Missense_Mutation_p.I108V NM_014752.2 NP_055567.2 Q15005 SPCS2_HUMAN signal peptidase complex subunit 2 homolog (S. cerevisiae) 177 energy reserve metabolic process|regulation of insulin secretion|signal peptide processing integral to membrane|microsome|signal peptidase complex peptidase activity breast(1) 1 GCTGACCTTCATCAGTGGGAG 0.443000 15 82 0 0 1 0 0 CSF2RA 0 broad.mit.edu 37 X 1414328 1414328 + Missense_Mutation SNP G G C TCGA-NG-A4VW-01A-11D-A28R-08 TCGA-NG-A4VW-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 036c7c6a-32e0-4837-a8a6-4d230860dc1c c3915350-561b-448e-af59-7d96f4e95b64 g.chrX:1414328G>C ENST00000381524.3 + 9 975 c.789G>C c.(787-789)caG>caC p.Q263H CSF2RA_ENST00000417535.2_Missense_Mutation_p.Q263H|CSF2RA_ENST00000355805.2_Intron|CSF2RA_ENST00000381509.3_Missense_Mutation_p.Q263H|CSF2RA_ENST00000432318.2_Missense_Mutation_p.Q263H|CSF2RA_ENST00000501036.2_Missense_Mutation_p.Q130H|CSF2RA_ENST00000355432.3_Missense_Mutation_p.Q263H|CSF2RA_ENST00000381500.1_Missense_Mutation_p.Q263H|CSF2RA_ENST00000381529.3_Missense_Mutation_p.Q263H|CSF2RA_ENST00000498153.1_3'UTR|CSF2RA_ENST00000361536.3_Missense_Mutation_p.Q263H P15509 CSF2R_HUMAN colony stimulating factor 2 receptor, alpha, low-affinity (granulocyte-macrophage) 263 extracellular region|integral to plasma membrane cytokine receptor activity central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(6)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 45 all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122) Sargramostim(DB00020) AGAATACCCAGCCTGGCACGG 0.483000 54 225 0 0 1 0 0 PCDHB11 0 broad.mit.edu 37 5 140581324 140581324 + Missense_Mutation SNP A A C rs140763995 byFrequency TCGA-NG-A4VW-01A-11D-A28R-08 TCGA-NG-A4VW-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 036c7c6a-32e0-4837-a8a6-4d230860dc1c c3915350-561b-448e-af59-7d96f4e95b64 g.chr5:140581324A>C ENST00000354757.3 + 1 1977 c.1977A>C c.(1975-1977)caA>caC p.Q659H PCDHB11_ENST00000536699.1_Missense_Mutation_p.Q294H NM_018931.2 NP_061754.1 Q9Y5F2 PCDBB_HUMAN 659 Cadherin 6. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to plasma membrane calcium ion binding p.Q659H(1) NS(2)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1) 63 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) CCACGCTGCAAGTGCTCCTGG 0.711000 5 123 0 0 1 0 0 RP11-423O2.5 0 broad.mit.edu 37 1 142803543 142803543 + RNA SNP C C T TCGA-NG-A4VW-01A-11D-A28R-08 TCGA-NG-A4VW-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 036c7c6a-32e0-4837-a8a6-4d230860dc1c c3915350-561b-448e-af59-7d96f4e95b64 g.chr1:142803543C>T ENST00000423385.1 - 0 1422 TGTTGGAATTCCTGATGAATC 0.269000 5 178 0 0 1 0 0 WSCD1 23302 broad.mit.edu 37 17 6023654 6023654 + Silent SNP C C T TCGA-NG-A4VW-01A-11D-A28R-08 TCGA-NG-A4VW-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 036c7c6a-32e0-4837-a8a6-4d230860dc1c c3915350-561b-448e-af59-7d96f4e95b64 g.chr17:6023654C>T ENST00000574946.1 + 9 1791 c.1401C>T c.(1399-1401)taC>taT p.Y467Y WSCD1_ENST00000539421.1_Silent_p.Y467Y|WSCD1_ENST00000317744.5_Silent_p.Y467Y|WSCD1_ENST00000573634.1_Silent_p.Y351Y|WSCD1_ENST00000574232.1_Silent_p.Y467Y Q658N2 WSCD1_HUMAN WSC domain containing 1 467 integral to membrane sulfotransferase activity p.Y467Y(1) breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(1) 35 TCAACAGCTACGCCTCGTGGT 0.677000 42 229 0 0 1 0 0 GRID1 2894 broad.mit.edu 37 10 87628820 87628820 + Missense_Mutation SNP G G A TCGA-NG-A4VW-01A-11D-A28R-08 TCGA-NG-A4VW-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 036c7c6a-32e0-4837-a8a6-4d230860dc1c c3915350-561b-448e-af59-7d96f4e95b64 g.chr10:87628820G>A ENST00000327946.7 - 6 983 c.898C>T c.(898-900)Cgc>Tgc p.R300C NM_017551.2 NP_060021.1 Q9ULK0 GRID1_HUMAN glutamate receptor, ionotropic, delta 1 300 cell junction|integral to membrane|outer membrane-bounded periplasmic space|postsynaptic membrane extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(46)|ovary(5)|prostate(4)|skin(5)|stomach(4)|upper_aerodigestive_tract(5) 106 L-Glutamic Acid(DB00142) GAGGAGATGCGGTGGTTGTTC 0.567000 Multiple Myeloma(13;0.14) 14 93 0 0 1 0 0 RPS2 6187 broad.mit.edu 37 16 2013186 2013186 + Missense_Mutation SNP C C A TCGA-NG-A4VW-01A-11D-A28R-08 TCGA-NG-A4VW-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 036c7c6a-32e0-4837-a8a6-4d230860dc1c c3915350-561b-448e-af59-7d96f4e95b64 g.chr16:2013186C>A ENST00000529806.1 - 2 435 c.249G>T c.(247-249)caG>caT p.Q83H RPS2_ENST00000343262.4_Missense_Mutation_p.Q113H|RPS2_ENST00000530225.1_Missense_Mutation_p.Q113H|RPS2_ENST00000526522.1_Missense_Mutation_p.Q113H P15880 RS2_HUMAN ribosomal protein S2 113 endocrine pancreas development|translational elongation|translational termination|viral transcription cytosolic small ribosomal subunit|nucleoplasm fibroblast growth factor 1 binding|fibroblast growth factor 3 binding|RNA binding|structural constituent of ribosome endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|urinary_tract(2) 7 GGGTCTGCTTCTGCACTGGCA 0.547000 3 5 1 1 1 1 0 SOX8 30812 broad.mit.edu 37 16 1033825 1033825 + Missense_Mutation SNP C C T TCGA-NG-A4VW-01A-11D-A28R-08 TCGA-NG-A4VW-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 036c7c6a-32e0-4837-a8a6-4d230860dc1c c3915350-561b-448e-af59-7d96f4e95b64 g.chr16:1033825C>T ENST00000293894.3 + 2 635 c.520C>T c.(520-522)Cgg>Tgg p.R174W NM_014587.3 NP_055402.2 P57073 SOX8_HUMAN SRY (sex determining region Y)-box 8 174 adipose tissue development|enteric nervous system development|fat cell differentiation|in utero embryonic development|metanephric nephron tubule formation|morphogenesis of a branching epithelium|negative regulation of apoptosis|negative regulation of myoblast differentiation|negative regulation of transcription, DNA-dependent|neural crest cell migration|oligodendrocyte differentiation|osteoblast differentiation|peripheral nervous system development|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of gliogenesis|positive regulation of osteoblast proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of hormone levels|renal vesicle induction|retinal rod cell differentiation|Sertoli cell development|signal transduction|spermatogenesis|ureter morphogenesis cytoplasm|nucleus central_nervous_system(1)|kidney(1)|lung(5)|prostate(2)|skin(1) 10 Hepatocellular(780;0.00308) GTACCAGCCACGGCGCAGGAA 0.677000 10 55 0 0 1 0 0 FLNA 0 broad.mit.edu 37 X 153592412 153592412 + Missense_Mutation SNP C C G TCGA-NG-A4VW-01A-11D-A28R-08 TCGA-NG-A4VW-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 036c7c6a-32e0-4837-a8a6-4d230860dc1c c3915350-561b-448e-af59-7d96f4e95b64 g.chrX:153592412C>G ENST00000422373.1 - 15 2506 c.2258G>C c.(2257-2259)aGc>aCc p.S753T FLNA_ENST00000360319.4_Missense_Mutation_p.S753T|FLNA_ENST00000344736.4_Missense_Mutation_p.S753T|FLNA_ENST00000369850.3_Missense_Mutation_p.S753T NM_001456.3 NP_001447.2 P21333 FLNA_HUMAN filamin A, alpha 753 actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering cell cortex|cytosol|extracellular region|nucleus|plasma membrane actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding breast(6) 6 all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176) GTTGGGGATGCTGACGCCTCC 0.577000 40 147 0 0 1 0 0 FUT1 2523 broad.mit.edu 37 19 49253880 49253880 + Missense_Mutation SNP C C T TCGA-NG-A4VW-01A-11D-A28R-08 TCGA-NG-A4VW-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 036c7c6a-32e0-4837-a8a6-4d230860dc1c c3915350-561b-448e-af59-7d96f4e95b64 g.chr19:49253880C>T ENST00000310160.3 - 4 1633 c.659G>A c.(658-660)cGc>cAc p.R220H NM_000148.3 NP_000139.1 P19526 FUT1_HUMAN fucosyltransferase 1 (galactoside 2-alpha-L-fucosyltransferase, H blood group) 220 L-fucose catabolic process|protein glycosylation Golgi cisterna membrane|integral to plasma membrane|membrane fraction galactoside 2-alpha-L-fucosyltransferase activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(3)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1) 17 all_lung(116;1.7e-06)|all_epithelial(76;3.52e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261) OV - Ovarian serous cystadenocarcinoma(262;0.000135)|all cancers(93;0.000354)|Epithelial(262;0.0191)|GBM - Glioblastoma multiforme(486;0.0222) GTCCCCACGGCGCACGTGGAC 0.692000 32 171 0 0 1 0 0 PCSK5 5125 broad.mit.edu 37 9 78790136 78790136 + Missense_Mutation SNP T T C rs62556589 TCGA-NG-A4VW-01A-11D-A28R-08 TCGA-NG-A4VW-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 036c7c6a-32e0-4837-a8a6-4d230860dc1c c3915350-561b-448e-af59-7d96f4e95b64 g.chr9:78790136T>C ENST00000376767.3 + 14 2503 c.1991T>C c.(1990-1992)aTg>aCg p.M664T PCSK5_ENST00000545128.1_Intron|PCSK5_ENST00000376752.4_Intron Q92824 PCSK5_HUMAN proprotein convertase subtilisin/kexin type 5 0 CRM (Cys-rich motif). anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release extracellular space|Golgi lumen|stored secretory granule peptide binding|serine-type endopeptidase activity NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3) 55 tggaatggaatgaaatggaat 0.423000 3 29 0 0 1 0 0 GLRX2 51022 broad.mit.edu 37 1 193070293 193070293 + Missense_Mutation SNP G G T TCGA-NG-A4VW-01A-11D-A28R-08 TCGA-NG-A4VW-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 036c7c6a-32e0-4837-a8a6-4d230860dc1c c3915350-561b-448e-af59-7d96f4e95b64 g.chr1:193070293G>T ENST00000367440.3 - 2 639 c.164C>A c.(163-165)aCg>aAg p.T55K GLRX2_ENST00000367439.3_Missense_Mutation_p.T54K|GLRX2_ENST00000472197.1_5'UTR NM_001243399.1|NM_016066.4 NP_001230328.1|NP_057150.2 Q9NS18 GLRX2_HUMAN glutaredoxin 2 54 apoptosis|cell differentiation|cell redox homeostasis|DNA protection|electron transport chain|glutathione metabolic process|protein thiol-disulfide exchange|regulation of signal transduction|regulation of transcription, DNA-dependent|response to hydrogen peroxide|response to organic substance|response to redox state|response to temperature stimulus|transport mitochondrion|nucleus 2 iron, 2 sulfur cluster binding|arsenate reductase (glutaredoxin) activity|electron carrier activity|glutathione disulfide oxidoreductase activity|metal ion binding|protein disulfide oxidoreductase activity breast(1)|large_intestine(1)|lung(3) 5 Glutathione(DB00143) CACAGGCGCCGTCGCTAAATT 0.343000 6 50 3.59834e-05 3.64696e-05 1 1 0 DNAH1 25981 broad.mit.edu 37 3 52395770 52395770 + Silent SNP G G A TCGA-NG-A4VW-01A-11D-A28R-08 TCGA-NG-A4VW-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 036c7c6a-32e0-4837-a8a6-4d230860dc1c c3915350-561b-448e-af59-7d96f4e95b64 g.chr3:52395770G>A ENST00000420323.2 + 30 5229 c.4968G>A c.(4966-4968)gcG>gcA p.A1656A DNAH1_ENST00000466628.1_Intron NM_015512.4 NP_056327.4 Q9P2D7 DYH1_HUMAN dynein, axonemal, heavy chain 1 1656 AAA 1 (By similarity). ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1) 62 BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245) TCCAGAAGGCGCAGCAGCAGC 0.632000 3 24 0 0 1 0 0 MYH7 4625 broad.mit.edu 37 14 23887583 23887583 + Silent SNP C C T rs144465613 byFrequency TCGA-NG-A4VW-01A-11D-A28R-08 TCGA-NG-A4VW-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 036c7c6a-32e0-4837-a8a6-4d230860dc1c c3915350-561b-448e-af59-7d96f4e95b64 g.chr14:23887583C>T ENST00000355349.3 - 30 4167 c.4005G>A c.(4003-4005)tcG>tcA p.S1335S NM_000257.2 NP_000248.2 P12883 MYH7_HUMAN myosin, heavy chain 7, cardiac muscle, beta 1335 adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle p.S1335S(3) NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5) 137 all_cancers(95;2.54e-05) GBM - Glioblastoma multiforme(265;0.00725) CATGCCGGGCCGACTGCAGTG 0.662000 4 81 0 0 1 0 0 NDUFAF2 91942 broad.mit.edu 37 5 60241050 60241050 + Translation_Start_Site SNP G G A TCGA-NG-A4VW-01A-11D-A28R-08 TCGA-NG-A4VW-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 036c7c6a-32e0-4837-a8a6-4d230860dc1c c3915350-561b-448e-af59-7d96f4e95b64 g.chr5:60241050G>A ENST00000296597.5 + 0 95 NDUFAF2_ENST00000511107.1_De_novo_Start_OutOfFrame NM_174889.4 NP_777549.1 Q8N183 MIMIT_HUMAN NADH dehydrogenase (ubiquinone) complex I, assembly factor 2 membrane|mitochondrion electron carrier activity|NADH dehydrogenase (ubiquinone) activity central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|ovary(1) 6 Lung NSC(810;3.36e-05)|Prostate(74;0.0225)|Ovarian(174;0.17)|Breast(144;0.237) TGCGGGTCCCGCTGCTGGCAG 0.632000 3 28 0 0 1 0 0 GIGYF1 64599 broad.mit.edu 37 7 100281657 100281657 + Silent SNP C C T TCGA-NG-A4VW-01A-11D-A28R-08 TCGA-NG-A4VW-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 036c7c6a-32e0-4837-a8a6-4d230860dc1c c3915350-561b-448e-af59-7d96f4e95b64 g.chr7:100281657C>T ENST00000275732.5 - 15 3063 c.1854G>A c.(1852-1854)gcG>gcA p.A618A NM_022574.4 NP_072096.2 O75420 PERQ1_HUMAN GRB10 interacting GYF protein 1 618 central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 23 Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817) GGGGTTTGAGCGCCTGGAGCT 0.657000 5 30 0 0 1 0 0 PTEN 5728 broad.mit.edu 37 10 89692792 89692792 + Missense_Mutation SNP C C A TCGA-NG-A4VW-01A-11D-A28R-08 TCGA-NG-A4VW-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 036c7c6a-32e0-4837-a8a6-4d230860dc1c c3915350-561b-448e-af59-7d96f4e95b64 g.chr10:89692792C>A ENST00000371953.3 + 5 1633 c.276C>A c.(274-276)gaC>gaA p.D92E NM_000314.4 NP_000305.3 P60484 PTEN_HUMAN phosphatase and tensin homolog 92 Phosphatase tensin-type. activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway cytosol|internal side of plasma membrane|PML body anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity p.0?(37)|p.?(5)|p.R55fs*1(5)|p.Y27fs*1(2)|p.D92E(2)|p.Q87_P96del(1)|p.N82_P95del(1)|p.F56fs*2(1) NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17) 2771 all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132) KIRC - Kidney renal clear cell carcinoma(1;0.214) UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218) CTTTTGAAGACCATAACCCAC 0.333000 31 """D, Mis, N, F, S""" """glioma, prostate, endometrial""" """harmartoma, glioma, prostate, endometrial""" Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18) 29 68 1.5548e-18 1.66586e-18 1 1 0 CR1 1378 broad.mit.edu 37 1 207790017 207790017 + Silent SNP C C T rs55775404 TCGA-NG-A4VW-01A-11D-A28R-08 TCGA-NG-A4VW-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 036c7c6a-32e0-4837-a8a6-4d230860dc1c c3915350-561b-448e-af59-7d96f4e95b64 g.chr1:207790017C>T ENST00000367049.4 + 41 6759 c.6759C>T c.(6757-6759)tgC>tgT p.C2253C CR1_ENST00000367051.1_Silent_p.C1803C|CR1_ENST00000367052.1_Silent_p.C1803C|CR1_ENST00000367053.1_Silent_p.C1803C|CR1_ENST00000400960.2_Silent_p.C1803C NM_000651.4 NP_000642.3 P17927 CR1_HUMAN complement component (3b/4b) receptor 1 (Knops blood group) 1803 complement activation, classical pathway|innate immune response integral to plasma membrane complement receptor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 82 CTTACGCATGCGACACCCACC 0.498000 82 139 0 0 1 0 0 HECW1 23072 broad.mit.edu 37 7 43477687 43477687 + Missense_Mutation SNP G G A TCGA-NG-A4VW-01A-11D-A28R-08 TCGA-NG-A4VW-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 036c7c6a-32e0-4837-a8a6-4d230860dc1c c3915350-561b-448e-af59-7d96f4e95b64 g.chr7:43477687G>A ENST00000395891.1 + 9 1492 c.887G>A c.(886-888)cGc>cAc p.R296H HECW1_ENST00000453890.1_Missense_Mutation_p.R296H|HECW1_ENST00000471043.1_3'UTR NM_015052.3 NP_055867.3 Q76N89 HECW1_HUMAN HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1 296 C2. protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasm|nucleus ubiquitin-protein ligase activity NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3) 125 ATCATCAAGCGCTTCTTGGGA 0.493000 11 73 0 0 1 0 0 KRT6A 3853 broad.mit.edu 37 12 52882314 52882314 + Missense_Mutation SNP C C T TCGA-NG-A4VW-01A-11D-A28R-08 TCGA-NG-A4VW-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 036c7c6a-32e0-4837-a8a6-4d230860dc1c c3915350-561b-448e-af59-7d96f4e95b64 g.chr12:52882314C>T ENST00000330722.6 - 7 1290 c.1222G>A c.(1222-1224)Gcc>Acc p.A408T NM_005554.3 NP_005545.1 P02538 K2C6A_HUMAN keratin 6A 408 Coil 2.|Rod. cell differentiation|ectoderm development|positive regulation of cell proliferation keratin filament protein binding|structural constituent of cytoskeleton breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|liver(1)|lung(14)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 39 BRCA - Breast invasive adenocarcinoma(357;0.189) TCAGCAATGGCGGCCTGCAGG 0.552000 13 89 0 0 1 0 0 SIN3A 25942 broad.mit.edu 37 15 75684736 75684736 + Nonsense_Mutation SNP G G A TCGA-NG-A4VW-01A-11D-A28R-08 TCGA-NG-A4VW-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 036c7c6a-32e0-4837-a8a6-4d230860dc1c c3915350-561b-448e-af59-7d96f4e95b64 g.chr15:75684736G>A ENST00000394947.3 - 15 3012 c.2698C>T c.(2698-2700)Cag>Tag p.Q900* SIN3A_ENST00000360439.4_Nonsense_Mutation_p.Q900*|SIN3A_ENST00000394949.4_Nonsense_Mutation_p.Q900* NM_001145358.1 NP_001138830.1 Q96ST3 SIN3A_HUMAN SIN3 transcription regulator family member A 900 blood coagulation|cellular lipid metabolic process|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleolus|Sin3 complex protein binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2) 63 CAGAGAATCTGGTGCAGTCGC 0.438000 23 74 0 0 1 0 0 ABCA8 10351 broad.mit.edu 37 17 66873704 66873704 + Silent SNP G G A TCGA-NG-A4VW-01A-11D-A28R-08 TCGA-NG-A4VW-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 036c7c6a-32e0-4837-a8a6-4d230860dc1c c3915350-561b-448e-af59-7d96f4e95b64 g.chr17:66873704G>A ENST00000269080.2 - 31 4172 c.4035C>T c.(4033-4035)gcC>gcT p.A1345A ABCA8_ENST00000430352.2_Silent_p.A1385A|ABCA8_ENST00000586539.1_Silent_p.A1385A NM_007168.2 NP_009099.1 O94911 ABCA8_HUMAN ATP-binding cassette, sub-family A (ABC1), member 8 1345 ABC transporter 2. integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances breast(3)|central_nervous_system(2)|endometrium(9)|kidney(5)|large_intestine(19)|liver(1)|lung(30)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|urinary_tract(4) 83 Breast(10;4.56e-13) GCCCTTTCACGGCGGCGTACA 0.617000 40 226 0 0 1 0 0 PIK3CA 5290 broad.mit.edu 37 3 178936091 178936091 + Missense_Mutation SNP G G A rs104886003 TCGA-NG-A4VW-01A-11D-A28R-08 TCGA-NG-A4VW-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 036c7c6a-32e0-4837-a8a6-4d230860dc1c c3915350-561b-448e-af59-7d96f4e95b64 g.chr3:178936091G>A ENST00000263967.3 + 10 1790 c.1633G>A c.(1633-1635)Gag>Aag p.E545K NM_006218.2 NP_006209.2 P42336 PK3CA_HUMAN phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha 545 PI3K helical. E -> A (in cancer).|E -> G (in KERSEB).|E -> K (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells). epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity p.E545K(881)|p.E545Q(18) NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208) 5269 all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155) OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282) TGAAATCACTGAGCAGGAGAA 0.353000 E545K(BC3C_URINARY_TRACT)|E545K(BFTC909_KIDNEY)|E545K(DLD1_LARGE_INTESTINE)|E545K(ESS1_ENDOMETRIUM)|E545K(HCC202_BREAST)|E545K(HCT15_LARGE_INTESTINE)|E545K(HSC4_UPPER_AERODIGESTIVE_TRACT)|E545K(HT1197_URINARY_TRACT)|E545K(HUH28_BILIARY_TRACT)|E545K(KYSE510_OESOPHAGUS)|E545K(L363_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|E545K(MCF7_BREAST)|E545K(MDAMB361_BREAST)|E545K(MKN1_STOMACH)|E545K(NCIH460_LUNG)|E545K(NCIH508_LARGE_INTESTINE)|E545K(NCIH596_LUNG)|E545K(RERFLCSQ1_LUNG)|E545K(TCCSUP_URINARY_TRACT)|E545K(TE5_OESOPHAGUS) 57 Mis """colorectal, gastric, gliobastoma, breast""" HNSCC(19;0.045)|TSP Lung(28;0.18) 7 28 0 0 1 0 0 LGR5 8549 broad.mit.edu 37 12 71918242 71918242 + Missense_Mutation SNP A A G TCGA-NG-A4VW-01A-11D-A28R-08 TCGA-NG-A4VW-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 036c7c6a-32e0-4837-a8a6-4d230860dc1c c3915350-561b-448e-af59-7d96f4e95b64 g.chr12:71918242A>G ENST00000266674.5 + 3 652 c.341A>G c.(340-342)tAc>tGc p.Y114C LGR5_ENST00000536515.1_Missense_Mutation_p.Y114C|LGR5_ENST00000540815.2_Missense_Mutation_p.Y114C O75473 LGR5_HUMAN leucine-rich repeat containing G protein-coupled receptor 5 114 integral to plasma membrane protein-hormone receptor activity NUP107/LGR5(2) endometrium(2)|kidney(3)|large_intestine(2)|lung(24)|ovary(1)|pancreas(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3) 48 ACTGGCCTTTACAGTCTTAAA 0.418000 7 43 0 0 1 0 0 DHCR7 1717 broad.mit.edu 37 11 71155948 71155948 + Silent SNP G G A TCGA-NG-A4VW-01A-11D-A28R-08 TCGA-NG-A4VW-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 036c7c6a-32e0-4837-a8a6-4d230860dc1c c3915350-561b-448e-af59-7d96f4e95b64 g.chr11:71155948G>A ENST00000355527.3 - 3 327 c.51C>T c.(49-51)ggC>ggT p.G17G DHCR7_ENST00000407721.2_Silent_p.G17G NM_001163817.1|NM_001360.2 NP_001157289.1|NP_001351.2 Q9UBM7 DHCR7_HUMAN 7-dehydrocholesterol reductase 17 cholesterol biosynthetic process endoplasmic reticulum membrane|integral to membrane|nuclear outer membrane 7-dehydrocholesterol reductase activity|protein binding p.G17G(2) endometrium(2)|kidney(1)|large_intestine(3)|liver(1)|lung(10)|ovary(1)|skin(1) 19 NADH(DB00157) CATTGGTGACGCCATCTAGAC 0.502000 Smith-Lemli-Opitz syndrome 23 126 0 0 1 0 0 EML4 27436 broad.mit.edu 37 2 42522396 42522396 + Missense_Mutation SNP T T G TCGA-NG-A4VW-01A-11D-A28R-08 TCGA-NG-A4VW-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 036c7c6a-32e0-4837-a8a6-4d230860dc1c c3915350-561b-448e-af59-7d96f4e95b64 g.chr2:42522396T>G ENST00000318522.5 + 12 1612 c.1350T>G c.(1348-1350)ttT>ttG p.F450L EML4_ENST00000402711.2_Missense_Mutation_p.F392L|EML4_ENST00000401738.3_Missense_Mutation_p.F461L NM_019063.3 NP_061936.2 Q9HC35 EMAL4_HUMAN echinoderm microtubule associated protein like 4 450 microtubule-based process|mitosis cytoplasm|microtubule protein binding EML4/ALK(543) NS(2)|breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 12 AGGGAATTTTTGGGGTAAGAA 0.328000 T ALK NSCLC 10 54 0 0 1 0 0 PRPF4 9128 broad.mit.edu 37 9 116049072 116049072 + Missense_Mutation SNP C C T TCGA-NG-A4VW-01A-11D-A28R-08 TCGA-NG-A4VW-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 036c7c6a-32e0-4837-a8a6-4d230860dc1c c3915350-561b-448e-af59-7d96f4e95b64 g.chr9:116049072C>T ENST00000374199.4 + 9 1297 c.896C>T c.(895-897)gCg>gTg p.A299V PRPF4_ENST00000374198.4_Missense_Mutation_p.A300V O43172 PRP4_HUMAN pre-mRNA processing factor 4 300 Cajal body|nuclear speck|spliceosomal complex|U4/U6 snRNP protein binding NS(1)|breast(2)|endometrium(3)|large_intestine(6)|lung(6)|ovary(2)|pancreas(1)|prostate(2) 23 GCCTCTTGTGCGGCTGATGGC 0.468000 5 458 0 0 1 0 0 ABCB1 5243 broad.mit.edu 37 7 87148697 87148697 + Missense_Mutation SNP G G A TCGA-NG-A4VW-01A-11D-A28R-08 TCGA-NG-A4VW-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 036c7c6a-32e0-4837-a8a6-4d230860dc1c c3915350-561b-448e-af59-7d96f4e95b64 g.chr7:87148697G>A ENST00000265724.3 - 24 3289 c.2872C>T c.(2872-2874)Cgg>Tgg p.R958W ABCB1_ENST00000543898.1_Missense_Mutation_p.R894W|ABCB1_ENST00000488737.2_5'UTR NM_000927.4 NP_000918.2 P08183 MDR1_HUMAN ATP-binding cassette, sub-family B (MDR/TAP), member 1 958 ABC transmembrane type-1 2. G2/M transition of mitotic cell cycle|stem cell proliferation apical plasma membrane|cell surface|Golgi membrane|integral to membrane|intercellular canaliculus|membrane fraction ATP binding|protein binding|xenobiotic-transporting ATPase activity NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1) 111 Esophageal squamous(14;0.00164) Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570) GCTCCAAACCGGAAACATCCA 0.378000 14 49 0 0 1 0 0 COL5A1 1289 broad.mit.edu 37 9 137653812 137653812 + Silent SNP C C T TCGA-NG-A4VW-01A-11D-A28R-08 TCGA-NG-A4VW-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 036c7c6a-32e0-4837-a8a6-4d230860dc1c c3915350-561b-448e-af59-7d96f4e95b64 g.chr9:137653812C>T ENST00000371817.3 + 19 2391 c.1977C>T c.(1975-1977)gaC>gaT p.D659D NM_000093.3|NM_001278074.1 NP_000084.3|NP_001265003.1 P20908 CO5A1_HUMAN collagen, type V, alpha 1 659 Triple-helical region. axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells collagen type V heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4) 115 Myeloproliferative disorder(178;0.0341) all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131) CTCCGGGAGACGATGGAGAAA 0.597000 15 62 0 0 1 0 0 RXFP1 59350 broad.mit.edu 37 4 159573042 159573042 + Missense_Mutation SNP A A C TCGA-NG-A4VW-01A-11D-A28R-08 TCGA-NG-A4VW-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 036c7c6a-32e0-4837-a8a6-4d230860dc1c c3915350-561b-448e-af59-7d96f4e95b64 g.chr4:159573042A>C ENST00000307765.5 + 18 2360 c.2109A>C c.(2107-2109)aaA>aaC p.K703N RXFP1_ENST00000343542.5_Missense_Mutation_p.K655N|RXFP1_ENST00000448688.2_Missense_Mutation_p.K598N|RXFP1_ENST00000460056.2_Missense_Mutation_p.K622N|RXFP1_ENST00000470033.1_Missense_Mutation_p.K670N NM_001253727.1|NM_001253728.1|NM_001253730.1|NM_001253732.1|NM_001253733.1|NM_021634.3 NP_001240656.1|NP_001240657.1|NP_001240659.1|NP_001240661.1|NP_001240662.1|NP_067647.2 Q9HBX9 RXFP1_HUMAN relaxin/insulin-like family peptide receptor 1 703 integral to membrane|plasma membrane G-protein coupled receptor activity|metal ion binding breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|liver(2)|lung(22)|prostate(1)|skin(10) 49 all_hematologic(180;0.24) Renal(120;0.0854) COAD - Colon adenocarcinoma(41;0.0219) GACAAAGAAAATCTATGGACA 0.423000 9 62 0 0 1 0 0 SSRP1 6749 broad.mit.edu 37 11 57099304 57099304 + Missense_Mutation SNP G G A TCGA-NG-A4VW-01A-11D-A28R-08 TCGA-NG-A4VW-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 036c7c6a-32e0-4837-a8a6-4d230860dc1c c3915350-561b-448e-af59-7d96f4e95b64 g.chr11:57099304G>A ENST00000278412.2 - 9 1327 c.1061C>T c.(1060-1062)cCg>cTg p.P354L NM_003146.2 NP_003137.1 Q08945 SSRP1_HUMAN structure specific recognition protein 1 354 DNA repair|DNA replication|positive regulation of viral transcription|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction chromosome|cytoplasm|nucleoplasm DNA binding|protein binding breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(6)|ovary(2)|prostate(4) 23 CCGCTCCAGCGGGTAGAGCAG 0.567000 7 38 0 0 1 0 0 C1orf112 55732 broad.mit.edu 37 1 169821955 169821955 + Missense_Mutation SNP G G A TCGA-NG-A4VW-01A-11D-A28R-08 TCGA-NG-A4VW-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 036c7c6a-32e0-4837-a8a6-4d230860dc1c c3915350-561b-448e-af59-7d96f4e95b64 g.chr1:169821955G>A ENST00000286031.6 + 24 3089 c.2389G>A c.(2389-2391)Gag>Aag p.E797K SCYL3_ENST00000367772.4_3'UTR|C1orf112_ENST00000498289.1_3'UTR|C1orf112_ENST00000359326.4_Missense_Mutation_p.E797K NM_018186.2 NP_060656.2 Q9NSG2 CA112_HUMAN chromosome 1 open reading frame 112 797 breast(1)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(8)|lung(9)|ovary(1)|skin(1)|stomach(1) 34 all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181) AGCTCGTCAGGAGTTCCCCTG 0.443000 26 172 0 0 1 0 0 FLNA 0 broad.mit.edu 37 X 153578523 153578523 + Silent SNP G G A TCGA-NG-A4VW-01A-11D-A28R-08 TCGA-NG-A4VW-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 036c7c6a-32e0-4837-a8a6-4d230860dc1c c3915350-561b-448e-af59-7d96f4e95b64 g.chrX:153578523G>A ENST00000422373.1 - 44 7433 c.7185C>T c.(7183-7185)gaC>gaT p.D2395D FLNA_ENST00000369856.3_Silent_p.D536D|FLNA_ENST00000498491.1_5'UTR|FLNA_ENST00000360319.4_Silent_p.D2395D|FLNA_ENST00000344736.4_Silent_p.D2363D|FLNA_ENST00000369850.3_Silent_p.D2403D NM_001456.3 NP_001447.2 P21333 FLNA_HUMAN filamin A, alpha 2403 actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering cell cortex|cytosol|extracellular region|nucleus|plasma membrane actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding breast(6) 6 all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176) TGAACTTGACGTCAATCAGGT 0.592000 OREG0003592 type=REGULATORY REGION|Gene=FLNA|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay 56 224 0 0 1 0 0 TAF7 6879 broad.mit.edu 37 5 140699511 140699511 + Missense_Mutation SNP G G A TCGA-NG-A4VW-01A-11D-A28R-08 TCGA-NG-A4VW-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 036c7c6a-32e0-4837-a8a6-4d230860dc1c c3915350-561b-448e-af59-7d96f4e95b64 g.chr5:140699511G>A ENST00000313368.5 - 1 819 c.101C>T c.(100-102)tCt>tTt p.S34F NM_005642.2 NP_005633.2 Q15545 TAF7_HUMAN TAF7 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 55kDa 34 negative regulation of histone acetylation|negative regulation of protein kinase activity|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|spermine transport|transcription initiation from RNA polymerase II promoter Golgi apparatus|MLL1 complex|transcription factor TFIID complex|transcription factor TFTC complex histone acetyltransferase binding|thyroid hormone receptor binding|transcription coactivator activity|transcription regulatory region DNA binding|vitamin D receptor binding central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(5)|skin(1) 12 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GACATGACCAGACTGTACTGC 0.468000 17 85 0 0 1 0 0 CCDC33 80125 broad.mit.edu 37 15 74623364 74623364 + Nonsense_Mutation SNP C C T TCGA-NG-A4VW-01A-11D-A28R-08 TCGA-NG-A4VW-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 036c7c6a-32e0-4837-a8a6-4d230860dc1c c3915350-561b-448e-af59-7d96f4e95b64 g.chr15:74623364C>T ENST00000321288.5 + 16 2197 c.2197C>T c.(2197-2199)Cag>Tag p.Q733* CCDC33_ENST00000558821.1_Nonsense_Mutation_p.Q123*|CCDC33_ENST00000398814.3_Nonsense_Mutation_p.Q530*|CCDC33_ENST00000268082.4_Nonsense_Mutation_p.Q123* Q8N5R6 CCD33_HUMAN coiled-coil domain containing 33 733 protein binding breast(2)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(17)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2) 39 GTATCAGGCCCAGCAGCCACA 0.597000 7 26 0 0 1 0 0 ZNF415 55786 broad.mit.edu 37 19 53612426 53612426 + Missense_Mutation SNP C C T rs138480197 byFrequency TCGA-NG-A4VW-01A-11D-A28R-08 TCGA-NG-A4VW-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 036c7c6a-32e0-4837-a8a6-4d230860dc1c c3915350-561b-448e-af59-7d96f4e95b64 g.chr19:53612426C>T ENST00000455735.2 - 7 1336 c.1016G>A c.(1015-1017)cGg>cAg p.R339Q ZNF415_ENST00000597503.1_3'UTR|ZNF415_ENST00000243643.4_Missense_Mutation_p.R291Q|ZNF415_ENST00000440291.1_Missense_Mutation_p.R278Q|ZNF415_ENST00000595193.1_3'UTR|ZNF415_ENST00000594011.1_3'UTR|ZNF415_ENST00000421033.1_Missense_Mutation_p.R303Q|ZNF415_ENST00000500065.4_Missense_Mutation_p.R291Q|ZNF415_ENST00000448501.1_Missense_Mutation_p.R339Q|ZNF415_ENST00000601493.1_Missense_Mutation_p.R61Q|ZNF415_ENST00000597748.1_3'UTR Q09FC8 ZN415_HUMAN zinc finger protein 415 339 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|microtubule cytoskeleton|nucleolus DNA binding|zinc ion binding p.R291L(1) breast(1)|kidney(3)|large_intestine(8)|lung(11)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 31 GBM - Glioblastoma multiforme(134;0.0191) GTGAACTCTCCGATGTAGTGC 0.418000 7 40 0 0 1 0 0 NDRG3 57446 broad.mit.edu 37 20 35317150 35317150 + Missense_Mutation SNP A A G TCGA-NG-A4VW-01A-11D-A28R-08 TCGA-NG-A4VW-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 036c7c6a-32e0-4837-a8a6-4d230860dc1c c3915350-561b-448e-af59-7d96f4e95b64 g.chr20:35317150A>G ENST00000373803.2 - 4 187 c.131T>C c.(130-132)gTc>gCc p.V44A NDRG3_ENST00000540765.1_Intron|NDRG3_ENST00000349004.1_Missense_Mutation_p.V44A|NDRG3_ENST00000373773.3_Intron|NDRG3_ENST00000359675.2_Missense_Mutation_p.V32A Q9UGV2 NDRG3_HUMAN NDRG family member 3 44 cell differentiation|negative regulation of cell growth|spermatogenesis cytoplasm endometrium(4)|large_intestine(2)|lung(4)|ovary(1)|prostate(1) 12 Myeloproliferative disorder(115;0.00878) TCTTATAGTGACGTGGACCAC 0.383000 10 56 0 0 1 0 0 TMPRSS7 344805 broad.mit.edu 37 3 111797605 111797605 + Silent SNP C C T TCGA-NG-A4VW-01A-11D-A28R-08 TCGA-NG-A4VW-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 036c7c6a-32e0-4837-a8a6-4d230860dc1c c3915350-561b-448e-af59-7d96f4e95b64 g.chr3:111797605C>T ENST00000452346.2 + 17 2244 c.2241C>T c.(2239-2241)ctC>ctT p.L747L TMPRSS7_ENST00000419127.1_Silent_p.L621L Q7RTY8 TMPS7_HUMAN transmembrane protease, serine 7 747 Peptidase S1. proteolysis integral to membrane|plasma membrane serine-type endopeptidase activity breast(2)|endometrium(6)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 34 AAGGCTCCCTCGTTCTGCAGC 0.443000 16 51 0 0 1 0 0 COL17A1 1308 broad.mit.edu 37 10 105793951 105793951 + Missense_Mutation SNP C C T rs121912771 TCGA-NG-A4VW-01A-11D-A28R-08 TCGA-NG-A4VW-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 036c7c6a-32e0-4837-a8a6-4d230860dc1c c3915350-561b-448e-af59-7d96f4e95b64 g.chr10:105793951C>T ENST00000353479.5 - 52 4198 c.3908G>A c.(3907-3909)cGg>cAg p.R1303Q COL17A1_ENST00000369733.3_Missense_Mutation_p.R1221Q NM_000494.3 NP_000485.3 Q9UMD9 COHA1_HUMAN collagen, type XVII, alpha 1 1303 Triple-helical region. R -> Q (in GABEB). cell-matrix adhesion|epidermis development|hemidesmosome assembly basement membrane|cell-cell junction|collagen|hemidesmosome|integral to plasma membrane protein binding NS(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|liver(1)|lung(22)|ovary(5)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1) 62 Colorectal(252;0.103)|Breast(234;0.122) Epithelial(162;2.5e-09)|all cancers(201;7.94e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165) GGAGCTGCCCCGCCTGACAGA 0.672000 9 39 0 0 1 0 0 NACA 4666 broad.mit.edu 37 12 57109734 57109734 + Silent SNP G G A TCGA-NG-A4VW-01A-11D-A28R-08 TCGA-NG-A4VW-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 036c7c6a-32e0-4837-a8a6-4d230860dc1c c3915350-561b-448e-af59-7d96f4e95b64 g.chr12:57109734G>A ENST00000454682.1 - 3 5861 c.5580C>T c.(5578-5580)gtC>gtT p.V1860V NACA_ENST00000552540.1_Intron|NACA_ENST00000393891.4_Intron|NACA_ENST00000551793.1_Intron|NACA_ENST00000550952.1_Silent_p.V707V|NACA_ENST00000356769.3_Intron|NACA_ENST00000548563.1_Intron|NACA_ENST00000546392.1_Intron NM_001113203.2 NP_001106674.2 Q13765 NACA_HUMAN nascent polypeptide-associated complex alpha subunit 0 interspecies interaction between organisms|protein transport|transcription, DNA-dependent|translation nascent polypeptide-associated complex|nucleus DNA binding breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1) 10 TGGGCATGTTGACGAGGACCG 0.562000 T BCL6 NHL 16 124 0 0 1 0 0 CUX1 1523 broad.mit.edu 37 7 101747648 101747648 + Nonsense_Mutation SNP C C T TCGA-NG-A4VW-01A-11D-A28R-08 TCGA-NG-A4VW-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 036c7c6a-32e0-4837-a8a6-4d230860dc1c c3915350-561b-448e-af59-7d96f4e95b64 g.chr7:101747648C>T ENST00000360264.3 + 6 492 c.472C>T c.(472-474)Cga>Tga p.R158* CUX1_ENST00000560541.1_3'UTR|CUX1_ENST00000556210.1_Nonsense_Mutation_p.R147*|CUX1_ENST00000547394.2_Nonsense_Mutation_p.R142*|CUX1_ENST00000546411.2_Nonsense_Mutation_p.R147*|CUX1_ENST00000393824.3_Nonsense_Mutation_p.R121*|CUX1_ENST00000550008.2_Nonsense_Mutation_p.R147*|CUX1_ENST00000437600.4_Nonsense_Mutation_p.R158*|CUX1_ENST00000292535.7_Nonsense_Mutation_p.R147*|CUX1_ENST00000549414.2_Nonsense_Mutation_p.R147*|CUX1_ENST00000292538.4_Nonsense_Mutation_p.R158*|CUX1_ENST00000425244.2_Nonsense_Mutation_p.R112* NM_001202543.1 NP_001189472.1 P39880 CUX1_HUMAN cut-like homeobox 1 147 negative regulation of transcription from RNA polymerase II promoter nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity p.R147*(1)|p.R158*(1) breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5) 70 AGAGAAAATCCGAGAATATGA 0.388000 33 130 0 0 1 0 0 BAGE2 85319 broad.mit.edu 37 21 11058248 11058248 + RNA SNP G G A rs8130203 by1000genomes TCGA-NG-A4VW-01A-11D-A28R-08 TCGA-NG-A4VW-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 036c7c6a-32e0-4837-a8a6-4d230860dc1c c3915350-561b-448e-af59-7d96f4e95b64 g.chr21:11058248G>A ENST00000470054.1 - 0 399 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) GCAGCACAAGGATAATGATAC 0.433000 4 92 0 0 1 0 0 CLOCK 9575 broad.mit.edu 37 4 56336953 56336954 + Frame_Shift_Ins INS - - A TCGA-NG-A4VW-01A-11D-A28R-08 TCGA-NG-A4VW-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 036c7c6a-32e0-4837-a8a6-4d230860dc1c c3915350-561b-448e-af59-7d96f4e95b64 g.chr4:56336953_56336954insA ENST00000309964.4 - 7 618_619 c.368_369insT c.(367-369)tgcfs p.C123fs CLOCK_ENST00000513440.1_Frame_Shift_Ins_p.C123fs|CLOCK_ENST00000381322.1_Frame_Shift_Ins_p.C123fs NM_004898.3 NP_004889.1 O15516 CLOCK_HUMAN clock circadian regulator 123 PAS 1. circadian rhythm|photoperiodism|positive regulation of transcription from RNA polymerase II promoter cytoplasm|transcription factor complex DNA binding|histone acetyltransferase activity|sequence-specific DNA binding transcription factor activity|signal transducer activity p.L123fs*1(2) breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(8)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 38 Lung NSC(11;0.00335)|Glioma(25;0.08)|all_epithelial(27;0.0992)|all_neural(26;0.101) LUSC - Lung squamous cell carcinoma(4;1.62e-07)|Lung(4;1.34e-06)|Epithelial(7;0.0107) TCATGATTGCTAAAAAAAAACC 0.287 12 55 --- --- --- --- F13A1 2162 broad.mit.edu 37 6 6266846 6266847 + Frame_Shift_Ins INS - - C TCGA-NG-A4VW-01A-11D-A28R-08 TCGA-NG-A4VW-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 036c7c6a-32e0-4837-a8a6-4d230860dc1c c3915350-561b-448e-af59-7d96f4e95b64 g.chr6:6266846_6266847insC ENST00000264870.3 - 4 780_781 c.515_516insG c.(514-516)cacfs p.H172fs NM_000129.3 NP_000120.2 P00488 F13A_HUMAN coagulation factor XIII, A1 polypeptide 172 peptide cross-linking|platelet activation|platelet degranulation extracellular region|platelet alpha granule lumen acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity p.R172Q(1) NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 62 Ovarian(93;0.0816) all_hematologic(90;0.152) L-Glutamine(DB00130) TTCGACTGGTTCGAAGTACGCC 0.455 20 110 --- --- --- --- MAD1L1 8379 broad.mit.edu 37 7 2265126 2265126 + Frame_Shift_Del DEL C C - TCGA-NG-A4VW-01A-11D-A28R-08 TCGA-NG-A4VW-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 036c7c6a-32e0-4837-a8a6-4d230860dc1c c3915350-561b-448e-af59-7d96f4e95b64 g.chr7:2265126delC ENST00000406869.1 - 4 767 c.210delG c.(208-210)gafs p.E70fs MAD1L1_ENST00000399654.2_Frame_Shift_Del_p.E70fs|MAD1L1_ENST00000265854.7_Frame_Shift_Del_p.E70fs|MAD1L1_ENST00000402746.1_Intron Q9Y6D9 MD1L1_HUMAN MAD1 mitotic arrest deficient-like 1 (yeast) 70 cell division|mitotic anaphase|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase|mitotic prometaphase|mitotic telophase actin cytoskeleton|centrosome|condensed chromosome kinetochore|cytosol|mitochondrion|nucleus|spindle protein binding central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|prostate(5) 36 Ovarian(82;0.0272) UCEC - Uterine corpus endometrioid carcinoma (27;0.134)|OV - Ovarian serous cystadenocarcinoma(56;3.63e-14) TCTGCATTTTCTCCCGCTCCA 0.577 13 72 --- --- --- --- TLE1 7088 broad.mit.edu 37 9 84207940 84207943 + Splice_Site DEL CAGA CAGA - TCGA-NG-A4VW-01A-11D-A28R-08 TCGA-NG-A4VW-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 036c7c6a-32e0-4837-a8a6-4d230860dc1c c3915350-561b-448e-af59-7d96f4e95b64 g.chr9:84207940_84207943delCAGA ENST00000376499.3 - 15 2642_2645 c.1581_splice c.e15+1 p.CL526_splice NM_005077.3 NP_005068.2 Q04724 TLE1_HUMAN transducin-like enhancer of split 1 (E(sp1) homolog, Drosophila) 526 negative regulation of Wnt receptor signaling pathway|organ morphogenesis|transcription, DNA-dependent|Wnt receptor signaling pathway transcription factor binding NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 29 GTTCACTCACCAGACAGTCGAGCT 0.534 10 74 --- --- --- --- PNLIPRP2 5408 broad.mit.edu 37 10 118396277 118396278 + RNA INS - - T rs148140777 by1000genomes TCGA-NG-A4VW-01A-11D-A28R-08 TCGA-NG-A4VW-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 036c7c6a-32e0-4837-a8a6-4d230860dc1c c3915350-561b-448e-af59-7d96f4e95b64 g.chr10:118396277_118396278insT ENST00000537242.1 + 0 962 PNLIPRP2_ENST00000298771.7_RNA|PNLIPRP2_ENST00000433618.4_RNA NM_005396.4 NP_005387.2 P54317 LIPR2_HUMAN pancreatic lipase-related protein 2 galactolipid catabolic process|lipid digestion|phospholipid catabolic process|triglyceride metabolic process extracellular space acylglycerol lipase activity|calcium ion binding|galactolipase activity|phospholipase activity|triglyceride lipase activity endometrium(1)|large_intestine(1)|lung(11)|prostate(3) 16 all cancers(201;0.015) GACAAATTATGGTTTTTTTTTT 0.421 5 10 --- --- --- --- HOMEZ 57594 broad.mit.edu 37 14 23745310 23745310 + Frame_Shift_Del DEL A A - TCGA-NG-A4VW-01A-11D-A28R-08 TCGA-NG-A4VW-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 036c7c6a-32e0-4837-a8a6-4d230860dc1c c3915350-561b-448e-af59-7d96f4e95b64 g.chr14:23745310delA ENST00000357460.5 - 2 1291 c.1127delT c.(1126-1128)tafs p.L376fs HOMEZ_ENST00000431326.2_Frame_Shift_Del_p.L378fs|HOMEZ_ENST00000561013.1_Frame_Shift_Del_p.L378fs NM_020834.2 NP_065885.2 Q8IX15 HOMEZ_HUMAN homeobox and leucine zipper encoding 376 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity p.L376fs*14(1) endometrium(5)|lung(7) 12 all_cancers(95;5.54e-06) GBM - Glioblastoma multiforme(265;0.00643) CTGGCACTGTAAAAAAAAGGA 0.488 7 79 --- --- --- --- PRPF8 10594 broad.mit.edu 37 17 1559836 1559837 + In_Frame_Ins INS - - TTT TCGA-NG-A4VW-01A-11D-A28R-08 TCGA-NG-A4VW-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 036c7c6a-32e0-4837-a8a6-4d230860dc1c c3915350-561b-448e-af59-7d96f4e95b64 g.chr17:1559836_1559837insTTT ENST00000572621.1 - 35 5907_5908 c.5642_5643insAAA c.(5641-5643)aat>aAAAat p.1880_1881insK PRPF8_ENST00000304992.6_In_Frame_Ins_p.1880_1881insK Q6P2Q9 PRP8_HUMAN pre-mRNA processing factor 8 1880 Involved in interaction with pre-mRNA 5' splice site. catalytic step 2 spliceosome|nuclear speck|U5 snRNP protein binding|RNA binding NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(13)|lung(24)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(3) 77 UCEC - Uterine corpus endometrioid carcinoma (25;0.0855) TGATGACAATATTGGGGAAGTC 0.505 7 77 --- --- --- --- RP11-123I22.1 0 broad.mit.edu 37 18 76265412 76265412 + RNA DEL C C - TCGA-NG-A4VW-01A-11D-A28R-08 TCGA-NG-A4VW-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 036c7c6a-32e0-4837-a8a6-4d230860dc1c c3915350-561b-448e-af59-7d96f4e95b64 g.chr18:76265412delC ENST00000581634.1 + 0 248 TTCACTCCAGCACGGCGTCCG 0.622 2 4 --- --- --- --- CTC-525D6.1 0 broad.mit.edu 37 19 29903878 29903878 + RNA DEL A A - TCGA-NG-A4VW-01A-11D-A28R-08 TCGA-NG-A4VW-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 036c7c6a-32e0-4837-a8a6-4d230860dc1c c3915350-561b-448e-af59-7d96f4e95b64 g.chr19:29903878delA ENST00000582581.1 - 0 409 NR_040029.1 aattgactgcaaaaaaaatag 0.527 2 4 --- --- --- ---