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 SERPINA9 327657 broad.mit.edu 37 14 94942635 94942635 + Translation_Start_Site SNP T T C rs78913733 by1000genomes TCGA-DQ-7593-01A-11D-2229-08 TCGA-DQ-7593-10D-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e787781-7308-4964-ad14-1a5222b0278a 9aac5530-cd38-41ce-bdb0-401e137f4bd9 g.chr14:94942635T>C ENST00000546329.1 - 0 35 SERPINA9_ENST00000539349.1_Intron Q86WD7 SPA9_HUMAN serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 9 regulation of proteolysis cytoplasm|extracellular region|membrane serine-type endopeptidase inhibitor activity NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(17) 21 all_cancers(154;0.0691)|all_epithelial(191;0.233) Epithelial(152;0.144)|COAD - Colon adenocarcinoma(157;0.224)|all cancers(159;0.24) gcaaatgatatattattttta 0.383000 4 44 0 0 1 0 0 AIDA 64853 broad.mit.edu 37 1 222885629 222885629 + Missense_Mutation SNP G G A TCGA-DQ-7593-01A-11D-2229-08 TCGA-DQ-7593-10D-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e787781-7308-4964-ad14-1a5222b0278a 9aac5530-cd38-41ce-bdb0-401e137f4bd9 g.chr1:222885629G>A ENST00000340020.6 - 1 237 c.31C>T c.(31-33)Cgc>Tgc p.R11C AIDA_ENST00000541237.1_Intron|AIDA_ENST00000474863.1_5'UTR|AIDA_ENST00000355727.2_Missense_Mutation_p.R11C NM_022831.2 NP_073742.2 Q96BJ3 AIDA_HUMAN axin interactor, dorsalization associated 11 dorsal/ventral pattern formation|negative regulation of JNK cascade|negative regulation of JUN kinase activity|regulation of protein homodimerization activity kidney(2)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1) 10 GCGCCCCAGCGCTGCAGCAGA 0.672000 3 25 0 0 1 0 0 IGLV2-28 28812 broad.mit.edu 37 22 23006961 23006961 + RNA SNP C C T TCGA-DQ-7593-01A-11D-2229-08 TCGA-DQ-7593-10D-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e787781-7308-4964-ad14-1a5222b0278a 9aac5530-cd38-41ce-bdb0-401e137f4bd9 g.chr22:23006961C>T ENST00000385099.1 + 0 64 GGCTCTGCTCCTCCTCACCCT 0.627000 3 12 0 0 1 0 0 DENND4C 55667 broad.mit.edu 37 9 19296092 19296092 + Silent SNP G G A TCGA-DQ-7593-01A-11D-2229-08 TCGA-DQ-7593-10D-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e787781-7308-4964-ad14-1a5222b0278a 9aac5530-cd38-41ce-bdb0-401e137f4bd9 g.chr9:19296092G>A ENST00000380432.2 + 2 213 c.180G>A c.(178-180)acG>acA p.T60T DENND4C_ENST00000434457.2_Silent_p.T296T|DENND4C_ENST00000602925.1_Silent_p.T296T|DENND4C_ENST00000307015.9_5'UTR NM_017925.4 NP_060395.5 Q5VZ89 DEN4C_HUMAN DENN/MADD domain containing 4C 60 integral to membrane breast(1)|endometrium(8)|kidney(1)|large_intestine(7)|liver(2)|lung(13)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 40 GCTTGTTGACGCCTGTGGAGA 0.393000 10 74 0 0 1 0 0 RTN1 6252 broad.mit.edu 37 14 60074190 60074190 + Missense_Mutation SNP G G A TCGA-DQ-7593-01A-11D-2229-08 TCGA-DQ-7593-10D-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e787781-7308-4964-ad14-1a5222b0278a 9aac5530-cd38-41ce-bdb0-401e137f4bd9 g.chr14:60074190G>A ENST00000267484.5 - 4 2121 c.1786C>T c.(1786-1788)Cgg>Tgg p.R596W RTN1_ENST00000342503.4_Missense_Mutation_p.R28W|RTN1_ENST00000395090.1_Missense_Mutation_p.R13W|RTN1_ENST00000557422.1_5'UTR NM_021136.2 NP_066959.1 Q16799 RTN1_HUMAN reticulon 1 596 Reticulon. neuron differentiation integral to endoplasmic reticulum membrane signal transducer activity p.R596W(1) central_nervous_system(2)|kidney(2)|large_intestine(9)|lung(30)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1) 49 OV - Ovarian serous cystadenocarcinoma(108;0.0968) TTGATGTCCCGCCAATACAAC 0.602000 3 28 0 0 1 0 0 CARD11 84433 broad.mit.edu 37 7 2983865 2983865 + Missense_Mutation SNP C C T TCGA-DQ-7593-01A-11D-2229-08 TCGA-DQ-7593-10D-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e787781-7308-4964-ad14-1a5222b0278a 9aac5530-cd38-41ce-bdb0-401e137f4bd9 g.chr7:2983865C>T ENST00000396946.4 - 5 1068 c.665G>A c.(664-666)aGc>aAc p.S222N AC004906.3_ENST00000423194.1_RNA NM_032415.4 NP_115791.3 Q9BXL7 CAR11_HUMAN caspase recruitment domain family, member 11 222 positive regulation of cytokine production|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis|T cell costimulation|T cell receptor signaling pathway cytosol|membrane raft|plasma membrane CARD domain binding|guanylate kinase activity NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2) 150 Ovarian(82;0.0115) OV - Ovarian serous cystadenocarcinoma(56;8.44e-14) GAGGTCTCGGCTCCTCATGAC 0.562000 Mis DLBCL 23 94 0 0 1 0 0 CROCC 9696 broad.mit.edu 37 1 17272075 17272075 + Missense_Mutation SNP G G A rs2781608 by1000genomes TCGA-DQ-7593-01A-11D-2229-08 TCGA-DQ-7593-10D-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e787781-7308-4964-ad14-1a5222b0278a 9aac5530-cd38-41ce-bdb0-401e137f4bd9 g.chr1:17272075G>A ENST00000375541.5 + 15 2179 c.2110G>A c.(2110-2112)Gcc>Acc p.A704T CROCC_ENST00000467938.1_3'UTR NM_014675.3 NP_055490.3 Q5TZA2 CROCC_HUMAN ciliary rootlet coiled-coil, rootletin 704 cell cycle|cell projection organization|centrosome organization|protein localization actin cytoskeleton|centriole|ciliary rootlet|plasma membrane kinesin binding|structural molecule activity p.A704T(11) breast(3)|central_nervous_system(2)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(1)|lung(20)|ovary(3)|prostate(9)|skin(3)|urinary_tract(1) 62 Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000174)|all_lung(284;0.000234)|Renal(390;0.000518)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.63e-06)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181) GGCCGAGAAGGCCGAGGTGGC 0.657000 5 35 0 0 1 0 0 DNAH9 1770 broad.mit.edu 37 17 11666923 11666923 + Missense_Mutation SNP C C A TCGA-DQ-7593-01A-11D-2229-08 TCGA-DQ-7593-10D-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e787781-7308-4964-ad14-1a5222b0278a 9aac5530-cd38-41ce-bdb0-401e137f4bd9 g.chr17:11666923C>A ENST00000262442.3 + 36 7230 c.7162C>A c.(7162-7164)Caa>Aaa p.Q2388K DNAH9_ENST00000454412.2_Missense_Mutation_p.Q2388K NM_001372.3 NP_001363.2 Q9NYC9 DYH9_HUMAN dynein, axonemal, heavy chain 9 2388 cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4) 290 Breast(5;0.0122)|all_epithelial(5;0.131) Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157) AGCAATGGTCCAAGATCAGGT 0.463000 3 35 0.150653 0.153007 1 1 0 DYRK1B 9149 broad.mit.edu 37 19 40316437 40316437 + Missense_Mutation SNP A A G TCGA-DQ-7593-01A-11D-2229-08 TCGA-DQ-7593-10D-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e787781-7308-4964-ad14-1a5222b0278a 9aac5530-cd38-41ce-bdb0-401e137f4bd9 g.chr19:40316437A>G ENST00000593685.1 - 11 2276 c.1808T>C c.(1807-1809)cTc>cCc p.L603P DYRK1B_ENST00000430012.2_Missense_Mutation_p.L563P|DYRK1B_ENST00000597639.1_Missense_Mutation_p.L575P|DYRK1B_ENST00000323039.5_Missense_Mutation_p.L603P|DYRK1B_ENST00000348817.3_Missense_Mutation_p.L575P Q9Y463 DYR1B_HUMAN dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1B 603 positive regulation of transcription, DNA-dependent nucleus ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|transcription coactivator activity central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(7)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 24 all_cancers(60;5.79e-06)|all_lung(34;5.2e-08)|Lung NSC(34;6.14e-08)|Ovarian(47;0.06) Epithelial(26;5.74e-25)|OV - Ovarian serous cystadenocarcinoma(5;3.13e-24)|all cancers(26;8.59e-23) AGGAGGCGGGAGGGGTGGACG 0.721000 6 16 0 0 1 0 0 CILP2 148113 broad.mit.edu 37 19 19651098 19651098 + Silent SNP C C T TCGA-DQ-7593-01A-11D-2229-08 TCGA-DQ-7593-10D-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e787781-7308-4964-ad14-1a5222b0278a 9aac5530-cd38-41ce-bdb0-401e137f4bd9 g.chr19:19651098C>T ENST00000586018.1 + 3 369 c.267C>T c.(265-267)taC>taT p.Y89Y CILP2_ENST00000291495.4_Silent_p.Y83Y Q8IUL8 CILP2_HUMAN cartilage intermediate layer protein 2 83 proteinaceous extracellular matrix carbohydrate binding|carboxypeptidase activity NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1) 32 TCCGCTTCTACTACGGGCCAG 0.721000 6 28 0 0 1 0 0 IGLV2-28 28812 broad.mit.edu 37 22 23006960 23006960 + RNA SNP C C A TCGA-DQ-7593-01A-11D-2229-08 TCGA-DQ-7593-10D-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e787781-7308-4964-ad14-1a5222b0278a 9aac5530-cd38-41ce-bdb0-401e137f4bd9 g.chr22:23006960C>A ENST00000385099.1 + 0 63 GGGCTCTGCTCCTCCTCACCC 0.627000 3 12 0.184627 0.184627 1 1 0 ZNF618 114991 broad.mit.edu 37 9 116811047 116811047 + Missense_Mutation SNP G G A TCGA-DQ-7593-01A-11D-2229-08 TCGA-DQ-7593-10D-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e787781-7308-4964-ad14-1a5222b0278a 9aac5530-cd38-41ce-bdb0-401e137f4bd9 g.chr9:116811047G>A ENST00000288466.7 + 14 1285 c.1186G>A c.(1186-1188)Ggg>Agg p.G396R ZNF618_ENST00000470105.1_3'UTR|ZNF618_ENST00000374126.5_Missense_Mutation_p.G489R NM_133374.2 NP_588615.2 Q5T7W0 ZN618_HUMAN zinc finger protein 618 489 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(4)|lung(10)|urinary_tract(1) 16 CGTGGTCAGCGGGAAGGAGTT 0.587000 16 81 0 0 1 0 0 IGHV3-35 28432 broad.mit.edu 37 14 106845444 106845444 + RNA SNP G G A TCGA-DQ-7593-01A-11D-2229-08 TCGA-DQ-7593-10D-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e787781-7308-4964-ad14-1a5222b0278a 9aac5530-cd38-41ce-bdb0-401e137f4bd9 g.chr14:106845444G>A ENST00000390617.2 - 0 244 TGCATAGTGCGTCCTACTGCC 0.527000 50 282 0 0 1 0 0 CCNL2 81669 broad.mit.edu 37 1 1333701 1333701 + Missense_Mutation SNP G G A TCGA-DQ-7593-01A-11D-2229-08 TCGA-DQ-7593-10D-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e787781-7308-4964-ad14-1a5222b0278a 9aac5530-cd38-41ce-bdb0-401e137f4bd9 g.chr1:1333701G>A ENST00000400809.3 - 3 390 c.385C>T c.(385-387)Cac>Tac p.H129Y CCNL2_ENST00000408918.4_Missense_Mutation_p.H129Y NM_030937.4 NP_112199.2 Q96S94 CCNL2_HUMAN cyclin L2 129 Cyclin-like 1. regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|RNA processing|transcription, DNA-dependent nuclear speck protein kinase binding central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(3)|ovary(2)|prostate(2) 13 all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128) Epithelial(90;2.03e-36)|OV - Ovarian serous cystadenocarcinoma(86;4.17e-22)|Colorectal(212;0.000159)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.0023)|BRCA - Breast invasive adenocarcinoma(365;0.00465)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0342)|Lung(427;0.146) GAAGCCAGGTGGACACAGGCC 0.557000 14 122 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179447931 179447931 + Missense_Mutation SNP C C T TCGA-DQ-7593-01A-11D-2229-08 TCGA-DQ-7593-10D-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e787781-7308-4964-ad14-1a5222b0278a 9aac5530-cd38-41ce-bdb0-401e137f4bd9 g.chr2:179447931C>T ENST00000589042.1 - 313 65823 c.65599G>A c.(65599-65601)Gtg>Atg p.V21867M TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.V12927M|TTN_ENST00000342175.6_Missense_Mutation_p.V12994M|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.V19299M|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.V12802M|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.V20226M|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 20226 Fibronectin type-III 58. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) TTCATAGCCACACTCAGGTCT 0.363000 3 12 0 0 1 0 0 FMN2 56776 broad.mit.edu 37 1 240255972 240255972 + Missense_Mutation SNP C C T TCGA-DQ-7593-01A-11D-2229-08 TCGA-DQ-7593-10D-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e787781-7308-4964-ad14-1a5222b0278a 9aac5530-cd38-41ce-bdb0-401e137f4bd9 g.chr1:240255972C>T ENST00000319653.9 + 1 793 c.563C>T c.(562-564)tCg>tTg p.S188L NM_020066.4 NP_064450.3 Q9NZ56 FMN2_HUMAN formin 2 188 actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions actin binding NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2) 178 Ovarian(103;0.127) all_cancers(173;0.013) OV - Ovarian serous cystadenocarcinoma(106;0.0106) AGCTTCCATTCGGCTACGGAG 0.622000 14 88 0 0 1 0 0 SLC9A2 6549 broad.mit.edu 37 2 103274152 103274152 + Missense_Mutation SNP T T C TCGA-DQ-7593-01A-11D-2229-08 TCGA-DQ-7593-10D-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e787781-7308-4964-ad14-1a5222b0278a 9aac5530-cd38-41ce-bdb0-401e137f4bd9 g.chr2:103274152T>C ENST00000233969.2 + 2 561 c.419T>C c.(418-420)gTa>gCa p.V140A NM_003048.3 NP_003039.2 Q9UBY0 SL9A2_HUMAN solute carrier family 9, subfamily A (NHE2, cation proton antiporter 2), member 2 140 integral to membrane|plasma membrane sodium:hydrogen antiporter activity breast(5)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 42 AAGACTGATGTATTTTTCTTG 0.463000 29 168 0 0 1 0 0 MS4A4A 51338 broad.mit.edu 37 11 60048157 60048157 + Silent SNP G G A TCGA-DQ-7593-01A-11D-2229-08 TCGA-DQ-7593-10D-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e787781-7308-4964-ad14-1a5222b0278a 9aac5530-cd38-41ce-bdb0-401e137f4bd9 g.chr11:60048157G>A ENST00000337908.4 + 1 99 c.9G>A c.(7-9)caG>caA p.Q3Q MS4A4A_ENST00000355131.3_5'UTR|MS4A4A_ENST00000532114.1_Silent_p.Q3Q NM_148975.2 NP_683876.1 Q96JQ5 M4A4A_HUMAN membrane-spanning 4-domains, subfamily A, member 4A 3 integral to membrane receptor activity autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(12)|prostate(1)|skin(4) 23 GCATGCATCAGACCTACAGCA 0.502000 10 55 0 0 1 0 0 ANKRD30BP2 149992 broad.mit.edu 37 21 14414902 14414902 + RNA SNP G G A rs2821609 by1000genomes TCGA-DQ-7593-01A-11D-2229-08 TCGA-DQ-7593-10D-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e787781-7308-4964-ad14-1a5222b0278a 9aac5530-cd38-41ce-bdb0-401e137f4bd9 g.chr21:14414902G>A ENST00000507941.1 + 0 95 CCAGCTTGACGTCCTTGATGG 0.443000 7 48 0 0 1 0 0 SH3GLB2 56904 broad.mit.edu 37 9 131783493 131783493 + Nonsense_Mutation SNP G G A TCGA-DQ-7593-01A-11D-2229-08 TCGA-DQ-7593-10D-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e787781-7308-4964-ad14-1a5222b0278a 9aac5530-cd38-41ce-bdb0-401e137f4bd9 g.chr9:131783493G>A ENST00000372564.3 - 3 356 c.211C>T c.(211-213)Cga>Tga p.R71* SH3GLB2_ENST00000372559.1_Nonsense_Mutation_p.R71*|SH3GLB2_ENST00000416629.1_Nonsense_Mutation_p.R71*|SH3GLB2_ENST00000417224.1_Nonsense_Mutation_p.R71*|SH3GLB2_ENST00000372554.4_Nonsense_Mutation_p.R71* NM_020145.2 NP_064530.1 Q9NR46 SHLB2_HUMAN SH3-domain GRB2-like endophilin B2 71 BAR. filopodium assembly|signal transduction cytoplasm|nucleus cytoskeletal adaptor activity|SH3 domain binding NS(1)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(1)|prostate(1) 12 TCCTCCACTCGGGCACCTGTG 0.597000 10 38 0 0 1 0 0 CHP2 63928 broad.mit.edu 37 16 23767738 23767738 + Missense_Mutation SNP G G T rs79455352 by1000genomes TCGA-DQ-7593-01A-11D-2229-08 TCGA-DQ-7593-10D-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e787781-7308-4964-ad14-1a5222b0278a 9aac5530-cd38-41ce-bdb0-401e137f4bd9 g.chr16:23767738G>T ENST00000300113.2 + 5 805 c.382G>T c.(382-384)Gat>Tat p.D128Y NM_022097.2 NP_071380.1 O43745 CHP2_HUMAN calcineurin-like EF-hand protein 2 128 EF-hand 3. calcium ion binding p.D128Y(1) central_nervous_system(1)|large_intestine(2)|lung(3)|prostate(2)|stomach(1) 9 GBM - Glioblastoma multiforme(48;0.0144) CCTGGATCGCGATGGGAAGAT 0.537000 3 35 6.4e-05 6.81967e-05 1 1 0 PCDHGA10 56106 broad.mit.edu 37 5 140794477 140794477 + Missense_Mutation SNP G G A TCGA-DQ-7593-01A-11D-2229-08 TCGA-DQ-7593-10D-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e787781-7308-4964-ad14-1a5222b0278a 9aac5530-cd38-41ce-bdb0-401e137f4bd9 g.chr5:140794477G>A ENST00000398610.2 + 1 1735 c.1735G>A c.(1735-1737)Gtg>Atg p.V579M PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA8_ENST00000398604.2_Intron NM_018913.2|NM_032090.1 NP_061736.1|NP_114479.1 breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 43 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TTCCACAGGCGTGGAGCTGGC 0.652000 63 626 0 0 1 0 0 KMT2D 8085 broad.mit.edu 37 12 49433051 49433051 + Missense_Mutation SNP G G A TCGA-DQ-7593-01A-11D-2229-08 TCGA-DQ-7593-10D-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e787781-7308-4964-ad14-1a5222b0278a 9aac5530-cd38-41ce-bdb0-401e137f4bd9 g.chr12:49433051G>A ENST00000301067.7 - 33 8319 c.8320C>T c.(8320-8322)Cgg>Tgg p.R2774W NM_003482.3 NP_003473.3 lysine (K)-specific methyltransferase 2D GGAGGTGGCCGGGAGAGTCGG 0.607000 28 119 0 0 1 0 0 CCNL2 81669 broad.mit.edu 37 1 1333700 1333700 + Missense_Mutation SNP T T A TCGA-DQ-7593-01A-11D-2229-08 TCGA-DQ-7593-10D-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e787781-7308-4964-ad14-1a5222b0278a 9aac5530-cd38-41ce-bdb0-401e137f4bd9 g.chr1:1333700T>A ENST00000400809.3 - 3 391 c.386A>T c.(385-387)cAc>cTc p.H129L CCNL2_ENST00000408918.4_Missense_Mutation_p.H129L NM_030937.4 NP_112199.2 Q96S94 CCNL2_HUMAN cyclin L2 129 Cyclin-like 1. regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|RNA processing|transcription, DNA-dependent nuclear speck protein kinase binding central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(3)|ovary(2)|prostate(2) 13 all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128) Epithelial(90;2.03e-36)|OV - Ovarian serous cystadenocarcinoma(86;4.17e-22)|Colorectal(212;0.000159)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.0023)|BRCA - Breast invasive adenocarcinoma(365;0.00465)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0342)|Lung(427;0.146) GGAAGCCAGGTGGACACAGGC 0.562000 14 125 0 0 1 0 0 EVC 2121 broad.mit.edu 37 4 5809991 5809991 + Silent SNP C C T TCGA-DQ-7593-01A-11D-2229-08 TCGA-DQ-7593-10D-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e787781-7308-4964-ad14-1a5222b0278a 9aac5530-cd38-41ce-bdb0-401e137f4bd9 g.chr4:5809991C>T ENST00000382674.2 + 18 2809 c.2625C>T c.(2623-2625)caC>caT p.H875H EVC_ENST00000264956.6_Silent_p.H875H P57679 EVC_HUMAN Ellis van Creveld syndrome 875 muscle organ development integral to membrane NS(1)|breast(1)|endometrium(2)|large_intestine(10)|lung(11)|ovary(1)|skin(1)|stomach(1) 28 Myeloproliferative disorder(84;0.117) TGCGTCTGCACGCCCAGCAGC 0.607000 11 63 0 0 1 0 0 AR 367 broad.mit.edu 37 X 66765158 66765158 + Missense_Mutation SNP T T A rs72181988 TCGA-DQ-7593-01A-11D-2229-08 TCGA-DQ-7593-10D-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e787781-7308-4964-ad14-1a5222b0278a 9aac5530-cd38-41ce-bdb0-401e137f4bd9 g.chrX:66765158T>A ENST00000374690.3 + 1 694 c.170T>A c.(169-171)cTg>cAg p.L57Q AR_ENST00000396044.3_Missense_Mutation_p.L57Q|AR_ENST00000504326.1_Missense_Mutation_p.L57Q|AR_ENST00000513847.1_3'UTR NM_000044.3 NP_000035.2 P10275 ANDR_HUMAN androgen receptor 57 Modulating.|Poly-Leu. L -> Q (in prostate cancer). cell death|cell growth|cell proliferation|cell-cell signaling|negative regulation of apoptosis|negative regulation of integrin biosynthetic process|positive regulation of cell proliferation|positive regulation of integrin biosynthetic process|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphorylation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|regulation of establishment of protein localization in plasma membrane|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transport cytoplasm|nuclear chromatin|nucleoplasm androgen binding|androgen receptor activity|beta-catenin binding|enzyme binding|ligand-regulated transcription factor activity|protein dimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding p.L57Q(3) breast(4)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|prostate(11)|stomach(2)|upper_aerodigestive_tract(3) 67 all_cancers(1;0.173)|Prostate(1;2.27e-16)|all_epithelial(1;0.102) all_lung(315;1.3e-11) Bicalutamide(DB01128)|Cyproterone(DB04839)|Dromostanolone(DB00858)|Finasteride(DB01216)|Fluoxymesterone(DB01185)|Flutamide(DB00499)|Nandrolone(DB00984)|Nilutamide(DB00665)|Oxandrolone(DB00621)|Testosterone(DB00624) TTGCTGCTGCTgcagcagcag 0.667000 Androgen Insensitivity Syndrome 4 73 0 0 1 0 0 BLNK 29760 broad.mit.edu 37 10 98031155 98031155 + Translation_Start_Site SNP T T C TCGA-DQ-7593-01A-11D-2229-08 TCGA-DQ-7593-10D-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e787781-7308-4964-ad14-1a5222b0278a 9aac5530-cd38-41ce-bdb0-401e137f4bd9 g.chr10:98031155T>C ENST00000224337.5 - 1 142 c.1A>G c.(1-3)Atg>Gtg p.M1V BLNK_ENST00000495266.1_Start_Codon_SNP_p.M1V|BLNK_ENST00000371176.2_Start_Codon_SNP_p.M1V|BLNK_ENST00000413476.2_Start_Codon_SNP_p.M1V|BLNK_ENST00000427367.2_Start_Codon_SNP_p.M1V NM_013314.3 NP_037446.1 Q8WV28 BLNK_HUMAN B-cell linker 1 B cell differentiation|humoral immune response|inflammatory response|intracellular signal transduction cytoplasm|plasma membrane SH3/SH2 adaptor activity|transmembrane receptor protein tyrosine kinase adaptor activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|skin(2)|stomach(1) 14 Colorectal(252;0.083) Epithelial(162;7.89e-08)|all cancers(201;2.27e-06) AGCTTGTCCATTCTGTTTGGT 0.483000 13 37 0 0 1 0 0 EP300 2033 broad.mit.edu 37 22 41565529 41565529 + Missense_Mutation SNP G G A TCGA-DQ-7593-01A-11D-2229-08 TCGA-DQ-7593-10D-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e787781-7308-4964-ad14-1a5222b0278a 9aac5530-cd38-41ce-bdb0-401e137f4bd9 g.chr22:41565529G>A ENST00000263253.7 + 26 5414 c.4195G>A c.(4195-4197)Gat>Aat p.D1399N RP1-85F18.6_ENST00000415054.1_RNA NM_001429.3 NP_001420.2 Q09472 EP300_HUMAN E1A binding protein p300 1399 apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia centrosome|histone acetyltransferase complex androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding p.D1399N(5)|p.D1399Y(2) NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16) 171 ATCTTACCTCGATAGTGTTCA 0.338000 """T, N, F, Mis, O""" """MLL, RUNXBP2""" """colorectal, breast, pancreatic, AML, ALL, DLBCL""" Rubinstein-Taybi syndrome 5 34 0 0 1 0 0 CEP170B 283638 broad.mit.edu 37 14 105349547 105349547 + Silent SNP T T C TCGA-DQ-7593-01A-11D-2229-08 TCGA-DQ-7593-10D-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e787781-7308-4964-ad14-1a5222b0278a 9aac5530-cd38-41ce-bdb0-401e137f4bd9 g.chr14:105349547T>C ENST00000453495.1 + 8 984 c.756T>C c.(754-756)gaT>gaC p.D252D CEP170B_ENST00000418279.1_Silent_p.D181D|CEP170B_ENST00000414716.3_Silent_p.D251D|CEP170B_ENST00000556508.1_Silent_p.D181D centrosomal protein 170B CCACGAAGGATGCAGAGGCAG 0.662000 7 121 0 0 1 0 0 NEIL3 55247 broad.mit.edu 37 4 178274739 178274739 + Missense_Mutation SNP T T G TCGA-DQ-7593-01A-11D-2229-08 TCGA-DQ-7593-10D-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e787781-7308-4964-ad14-1a5222b0278a 9aac5530-cd38-41ce-bdb0-401e137f4bd9 g.chr4:178274739T>G ENST00000264596.3 + 8 1435 c.1317T>G c.(1315-1317)gaT>gaG p.D439E RP11-376O6.2_ENST00000506895.1_RNA NM_018248.2 NP_060718.2 Q8TAT5 NEIL3_HUMAN nei endonuclease VIII-like 3 (E. coli) 439 base-excision repair|nucleotide-excision repair nucleus bubble DNA binding|damaged DNA binding|DNA N-glycosylase activity|DNA-(apurinic or apyrimidinic site) lyase activity|double-stranded DNA binding|single-stranded DNA binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 29 Breast(14;6.27e-05)|Melanoma(52;0.00102)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.164) all cancers(43;1.96e-23)|Epithelial(43;2.52e-20)|OV - Ovarian serous cystadenocarcinoma(60;1.89e-11)|GBM - Glioblastoma multiforme(59;9.49e-05)|Colorectal(24;0.00013)|COAD - Colon adenocarcinoma(29;0.000696)|STAD - Stomach adenocarcinoma(60;0.00308)|LUSC - Lung squamous cell carcinoma(193;0.0398)|READ - Rectum adenocarcinoma(43;0.191) CAACAAACGATATAACTCAAC 0.373000 Base excision repair (BER), DNA glycosylases 5 44 0 0 1 0 0 NAB2 4665 broad.mit.edu 37 12 57485446 57485446 + Missense_Mutation SNP T T C TCGA-DQ-7593-01A-11D-2229-08 TCGA-DQ-7593-10D-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e787781-7308-4964-ad14-1a5222b0278a 9aac5530-cd38-41ce-bdb0-401e137f4bd9 g.chr12:57485446T>C ENST00000300131.3 + 2 1000 c.622T>C c.(622-624)Ttc>Ctc p.F208L NAB2_ENST00000342556.6_Missense_Mutation_p.F208L|NAB2_ENST00000554718.1_3'UTR|NAB2_ENST00000357680.4_Missense_Mutation_p.F208L NM_005967.3 NP_005958.1 Q15742 NAB2_HUMAN NGFI-A binding protein 2 (EGR1 binding protein 2) 208 cell proliferation|negative regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent nucleus transcription corepressor activity p.F208L(1) 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 CTCGCCCCCCTTCTCCCCCCC 0.716000 7 50 0 0 1 0 0 PCMTD1 115294 broad.mit.edu 37 8 52732940 52732940 + Missense_Mutation SNP C C T TCGA-DQ-7593-01A-11D-2229-08 TCGA-DQ-7593-10D-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e787781-7308-4964-ad14-1a5222b0278a 9aac5530-cd38-41ce-bdb0-401e137f4bd9 g.chr8:52732940C>T ENST00000360540.5 - 7 1451 c.1045G>A c.(1045-1047)Gct>Act p.A349T PCMTD1_ENST00000522514.1_Missense_Mutation_p.A349T|PCMTD1_ENST00000519559.1_5'UTR|PCMTD1_ENST00000544451.1_Missense_Mutation_p.A273T NM_052937.2 NP_443169.2 Q96MG8 PCMD1_HUMAN protein-L-isoaspartate (D-aspartate) O-methyltransferase domain containing 1 349 cytoplasm protein-L-isoaspartate (D-aspartate) O-methyltransferase activity NS(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(17)|prostate(2)|skin(8)|soft_tissue(1) 37 Lung NSC(129;0.0795)|all_lung(136;0.144) GTCAAGTAAGCTTTTAAAGAT 0.353000 4 56 0 0 1 0 0 HIST1H4H 8365 broad.mit.edu 37 6 26285431 26285431 + Silent SNP G G A TCGA-DQ-7593-01A-11D-2229-08 TCGA-DQ-7593-10D-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e787781-7308-4964-ad14-1a5222b0278a 9aac5530-cd38-41ce-bdb0-401e137f4bd9 g.chr6:26285431G>A ENST00000289352.1 - 1 331 c.297C>T c.(295-297)taC>taT p.Y99Y HIST1H4H_ENST00000377727.1_Silent_p.Y99Y P62805 H4_HUMAN histone cluster 1, H4h 99 CenH3-containing nucleosome assembly at centromere|negative regulation of megakaryocyte differentiation|phosphatidylinositol-mediated signaling|telomere maintenance nucleoplasm|nucleosome DNA binding|protein binding lung(2)|ovary(2)|upper_aerodigestive_tract(3) 7 CACCGAAGCCGTAAAGAGTGC 0.512000 HNSCC(76;0.23) 16 88 0 0 1 0 0 KIAA1109 84162 broad.mit.edu 37 4 123097066 123097066 + Missense_Mutation SNP C C A TCGA-DQ-7593-01A-11D-2229-08 TCGA-DQ-7593-10D-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e787781-7308-4964-ad14-1a5222b0278a 9aac5530-cd38-41ce-bdb0-401e137f4bd9 g.chr4:123097066C>A ENST00000264501.4 + 6 728 c.355C>A c.(355-357)Cat>Aat p.H119N KIAA1109_ENST00000455637.1_Missense_Mutation_p.H119N|KIAA1109_ENST00000388738.3_Missense_Mutation_p.H119N Q2LD37 K1109_HUMAN KIAA1109 119 regulation of cell growth|regulation of epithelial cell differentiation integral to membrane|nucleus breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3) 172 ACAGAAGCAACATGGTGAGTT 0.269000 4 41 0.014758 0.0154721 1 1 0 NXF4 55999 broad.mit.edu 37 X 101818299 101818299 + RNA SNP G G T TCGA-DQ-7593-01A-11D-2229-08 TCGA-DQ-7593-10D-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e787781-7308-4964-ad14-1a5222b0278a 9aac5530-cd38-41ce-bdb0-401e137f4bd9 g.chrX:101818299G>T ENST00000360035.2 + 0 889 NR_002216.1 endometrium(2)|lung(8) 10 GAGGGTTGGTGCTGGTGCTGG 0.517000 21 41 8.34094e-07 9.18917e-07 1 1 0 UTP20 27340 broad.mit.edu 37 12 101740295 101740295 + Missense_Mutation SNP T T A TCGA-DQ-7593-01A-11D-2229-08 TCGA-DQ-7593-10D-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e787781-7308-4964-ad14-1a5222b0278a 9aac5530-cd38-41ce-bdb0-401e137f4bd9 g.chr12:101740295T>A ENST00000261637.4 + 38 4987 c.4813T>A c.(4813-4815)Tct>Act p.S1605T NM_014503.2 NP_055318.2 O75691 UTP20_HUMAN UTP20, small subunit (SSU) processome component, homolog (yeast) 1605 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 AGTTGTTCTGTCTTCTAAATC 0.368000 13 46 0 0 1 0 0 TH 7054 broad.mit.edu 37 11 2189347 2189347 + Missense_Mutation SNP C C A rs139807727 TCGA-DQ-7593-01A-11D-2229-08 TCGA-DQ-7593-10D-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e787781-7308-4964-ad14-1a5222b0278a 9aac5530-cd38-41ce-bdb0-401e137f4bd9 g.chr11:2189347C>A ENST00000381178.1 - 5 661 c.643G>T c.(643-645)Gac>Tac p.D215Y TH_ENST00000381175.1_Missense_Mutation_p.D211Y|TH_ENST00000352909.3_Missense_Mutation_p.D184Y|TH_ENST00000333684.5_Missense_Mutation_p.D188Y NM_199292.2 NP_954986.2 P07101 TY3H_HUMAN tyrosine hydroxylase 215 dopamine biosynthetic process from tyrosine|embryonic camera-type eye morphogenesis|epinephrine biosynthetic process|eye photoreceptor cell development|heart morphogenesis|hormone biosynthetic process|learning|locomotory behavior|memory|neurotransmitter biosynthetic process|neurotransmitter secretion|norepinephrine biosynthetic process|pigmentation|regulation of heart contraction|response to ethanol|response to hypoxia|synaptic transmission, dopaminergic|visual perception cytosol|internal side of plasma membrane|melanosome membrane|nucleus|perikaryon|smooth endoplasmic reticulum protein binding|tyrosine 3-monooxygenase activity NS(1)|endometrium(1)|large_intestine(1)|lung(7)|skin(1) 11 all_epithelial(84;1.46e-23)|Lung NSC(207;4.44e-11)|all_lung(207;1.11e-09)|Ovarian(85;1.78e-06)|Breast(177;1.78e-05)|Medulloblastoma(188;0.0208)|all_neural(188;0.0416) Colorectal(5;0.00245)|COAD - Colon adenocarcinoma(6;0.0239) BRCA - Breast invasive adenocarcinoma(625;8.45e-09)|Lung(200;0.000152)|LUSC - Lung squamous cell carcinoma(625;0.00154) L-Phenylalanine(DB00120)|L-Tyrosine(DB00135)|Metyrosine(DB00765)|Tetrahydrobiopterin(DB00360) AGGTCAGGGTCGAACTTGGTG 0.582000 16 99 1.15088e-07 1.3124e-07 1 1 0 LINC00969 440993 broad.mit.edu 37 3 195400728 195400728 + RNA SNP A A G rs12107841 by1000genomes TCGA-DQ-7593-01A-11D-2229-08 TCGA-DQ-7593-10D-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e787781-7308-4964-ad14-1a5222b0278a 9aac5530-cd38-41ce-bdb0-401e137f4bd9 g.chr3:195400728A>G ENST00000445430.1 + 0 1324 GATTGTGCCCAGCCTGTACGC 0.587000 5 52 0 0 1 0 0 MLLT3 4300 broad.mit.edu 37 9 20414340 20414340 + Silent SNP G G A TCGA-DQ-7593-01A-11D-2229-08 TCGA-DQ-7593-10D-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e787781-7308-4964-ad14-1a5222b0278a 9aac5530-cd38-41ce-bdb0-401e137f4bd9 g.chr9:20414340G>A ENST00000380338.4 - 5 790 c.504C>T c.(502-504)agC>agT p.S168S MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S165S|MLLT3_ENST00000475957.1_5'UTR NM_004529.2 NP_004520.2 P42568 AF9_HUMAN myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 168 Poly-Ser. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding p.S168S(5) central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7) 66 GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05) tgctgctgctgctactgctgc 0.537000 T MLL ALL 7 134 0 0 1 0 0 DIRAS2 54769 broad.mit.edu 37 9 93375576 93375576 + Silent SNP G G A TCGA-DQ-7593-01A-11D-2229-08 TCGA-DQ-7593-10D-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e787781-7308-4964-ad14-1a5222b0278a 9aac5530-cd38-41ce-bdb0-401e137f4bd9 g.chr9:93375576G>A ENST00000375765.3 - 2 922 c.534C>T c.(532-534)atC>atT p.I178I NM_017594.3 NP_060064.2 Q96HU8 DIRA2_HUMAN DIRAS family, GTP-binding RAS-like 2 178 small GTPase mediated signal transduction intracellular|plasma membrane GTP binding|GTPase activity p.I178I(1) kidney(1)|large_intestine(6)|lung(3)|skin(2) 12 TTTTCCCGTCGATCTGGAGAC 0.547000 9 89 0 0 1 0 0 RBM47 54502 broad.mit.edu 37 4 40439977 40439977 + Nonsense_Mutation SNP C C A TCGA-DQ-7593-01A-11D-2229-08 TCGA-DQ-7593-10D-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e787781-7308-4964-ad14-1a5222b0278a 9aac5530-cd38-41ce-bdb0-401e137f4bd9 g.chr4:40439977C>A ENST00000319592.4 - 4 1643 c.934G>T c.(934-936)Gag>Tag p.E312* RBM47_ENST00000514014.1_Nonsense_Mutation_p.E274*|RBM47_ENST00000515809.1_Intron|RBM47_ENST00000295971.7_Nonsense_Mutation_p.E312*|RBM47_ENST00000381793.2_Nonsense_Mutation_p.E312*|RBM47_ENST00000381795.6_Nonsense_Mutation_p.E312* A0AV96 RBM47_HUMAN RNA binding motif protein 47 312 RRM 3. nucleus nucleotide binding|RNA binding breast(5)|endometrium(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1) 29 AGCGTGACCTCCAGGCACGAG 0.662000 22 148 8.10497e-08 9.40756e-08 1 1 0 GTF2IRD2P1 401375 broad.mit.edu 37 7 72658179 72658179 + RNA SNP T T C rs147293416 by1000genomes TCGA-DQ-7593-01A-11D-2229-08 TCGA-DQ-7593-10D-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e787781-7308-4964-ad14-1a5222b0278a 9aac5530-cd38-41ce-bdb0-401e137f4bd9 g.chr7:72658179T>C ENST00000425256.1 - 0 1732 NR_002164.1 cagagtgatttcggatgaatt 0.507000 4 61 0 0 1 0 0 RP11-435B5.5 0 broad.mit.edu 37 1 143391935 143391936 + RNA INS - - TG TCGA-DQ-7593-01A-11D-2229-08 TCGA-DQ-7593-10D-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e787781-7308-4964-ad14-1a5222b0278a 9aac5530-cd38-41ce-bdb0-401e137f4bd9 g.chr1:143391935_143391936insTG ENST00000428624.1 + 0 2065 RP11-435B5.4_ENST00000423249.1_lincRNA ATATATATATATAAAGAGATTG 0.252 5 4 --- --- --- --- LOC730100 730100 broad.mit.edu 37 2 51737734 51737735 + RNA DEL AA AA - rs13423125 by1000genomes TCGA-DQ-7593-01A-11D-2229-08 TCGA-DQ-7593-10D-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e787781-7308-4964-ad14-1a5222b0278a 9aac5530-cd38-41ce-bdb0-401e137f4bd9 g.chr2:51737734_51737735delAA ENST00000440698.1 + 0 694 TCGGAAAAGGAAAAAAAAAAAG 0.490 3 3 --- --- --- --- FGFRL1 53834 broad.mit.edu 37 4 1019055 1019056 + Frame_Shift_Del DEL CA CA - TCGA-DQ-7593-01A-11D-2229-08 TCGA-DQ-7593-10D-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e787781-7308-4964-ad14-1a5222b0278a 9aac5530-cd38-41ce-bdb0-401e137f4bd9 g.chr4:1019055_1019056delCA ENST00000398484.2 + 8 2015_2016 c.1435_1436delCA c.(1435-1437)cfs p.H479fs FGFRL1_ENST00000504138.1_Frame_Shift_Del_p.H479fs|FGFRL1_ENST00000264748.6_Frame_Shift_Del_p.H479fs|FGFRL1_ENST00000510644.1_Frame_Shift_Del_p.H479fs Q8N441 FGRL1_HUMAN fibroblast growth factor receptor-like 1 479 His-rich. regulation of cell growth integral to membrane|plasma membrane fibroblast growth factor receptor activity|heparin binding endometrium(1)|lung(9)|ovary(1)|prostate(1)|skin(1) 13 OV - Ovarian serous cystadenocarcinoma(23;0.0158) cacagacatccacacacacaca 0.584 10 38 --- --- --- --- RP11-608O21.1 0 broad.mit.edu 37 4 19815895 19815895 + RNA DEL A A - rs145239076 TCGA-DQ-7593-01A-11D-2229-08 TCGA-DQ-7593-10D-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e787781-7308-4964-ad14-1a5222b0278a 9aac5530-cd38-41ce-bdb0-401e137f4bd9 g.chr4:19815895delA ENST00000511431.1 + 0 288 TCTGGGCTGTaaaaaaaaaaa 0.413 5 7 --- --- --- --- NFE2L3 9603 broad.mit.edu 37 7 26224608 26224609 + Frame_Shift_Del DEL CT CT - TCGA-DQ-7593-01A-11D-2229-08 TCGA-DQ-7593-10D-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e787781-7308-4964-ad14-1a5222b0278a 9aac5530-cd38-41ce-bdb0-401e137f4bd9 g.chr7:26224608_26224609delCT ENST00000056233.3 + 4 1549_1550 c.1290_1291delCT c.(1288-1293)acctfs p.TS430fs NM_004289.6 NP_004280.5 Q9Y4A8 NF2L3_HUMAN nuclear factor, erythroid 2-like 3 430 transcription from RNA polymerase II promoter nucleus protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|skin(5)|urinary_tract(7) 29 ACAATAATACCTCTGTCATCAA 0.406 8 104 --- --- --- --- ITIH5 80760 broad.mit.edu 37 10 7618686 7618686 + Frame_Shift_Del DEL T T - rs2275069 byFrequency TCGA-DQ-7593-01A-11D-2229-08 TCGA-DQ-7593-10D-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e787781-7308-4964-ad14-1a5222b0278a 9aac5530-cd38-41ce-bdb0-401e137f4bd9 g.chr10:7618686delT ENST00000256861.6 - 10 1786 c.1708delA c.(1708-1710)ccfs p.T570fs ITIH5_ENST00000397145.2_Frame_Shift_Del_p.T570fs|ITIH5_ENST00000298441.6_Frame_Shift_Del_p.T356fs|ITIH5_ENST00000397146.2_Frame_Shift_Del_p.T570fs|ITIH5_ENST00000446830.2_Frame_Shift_Del_p.T352fs|ITIH5_ENST00000434980.1_5'UTR NM_030569.6 NP_085046.5 Q86UX2 ITIH5_HUMAN inter-alpha-trypsin inhibitor heavy chain family, member 5 570 T -> P (in dbSNP:rs2275069). hyaluronan metabolic process extracellular region serine-type endopeptidase inhibitor activity NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|kidney(6)|large_intestine(21)|lung(25)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(3) 75 ATGTGGTTGGTGTCCCCCTCT 0.587 8 89 --- --- --- --- WDR11 55717 broad.mit.edu 37 10 122633434 122633437 + Splice_Site DEL AAGT AAGT - TCGA-DQ-7593-01A-11D-2229-08 TCGA-DQ-7593-10D-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e787781-7308-4964-ad14-1a5222b0278a 9aac5530-cd38-41ce-bdb0-401e137f4bd9 g.chr10:122633434_122633437delAAGT ENST00000263461.6 + 11 1801_1802 c.1556_splice c.e11+1 p.519_splice NM_018117.11 NP_060587.8 Q9BZH6 WDR11_HUMAN WD repeat domain 11 519 integral to membrane breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(9)|prostate(2)|skin(2)|stomach(5) 38 ATGTGAAGTCAAGTAAGTATGTCA 0.373 15 47 --- --- --- --- CPXM2 119587 broad.mit.edu 37 10 125528165 125528167 + In_Frame_Del DEL CAG CAG - TCGA-DQ-7593-01A-11D-2229-08 TCGA-DQ-7593-10D-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e787781-7308-4964-ad14-1a5222b0278a 9aac5530-cd38-41ce-bdb0-401e137f4bd9 g.chr10:125528165_125528167delCAG ENST00000241305.3 - 9 1328_1330 c.1174_1176delCTG c.(1174-1176)del p.L392del CPXM2_ENST00000368854.3_5'UTR NM_198148.2 NP_937791.2 Q8N436 CPXM2_HUMAN carboxypeptidase X (M14 family), member 2 392 Poly-Leu. cell adhesion|proteolysis extracellular space metallocarboxypeptidase activity|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3) 47 all_lung(145;0.174)|Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)|Lung NSC(174;0.233) COAD - Colon adenocarcinoma(40;0.212)|Colorectal(40;0.237) CGAACTGCACCAGCAGCAGCAGC 0.626 10 428 --- --- --- --- KRTAP5-2 440021 broad.mit.edu 37 11 1619173 1619202 + In_Frame_Del DEL CCCCCACAGGAGCCACAGCCCCCCTTGGAG CCCCCACAGGAGCCACAGCCCCCCTTGGAG - rs61869706 by1000genomes TCGA-DQ-7593-01A-11D-2229-08 TCGA-DQ-7593-10D-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e787781-7308-4964-ad14-1a5222b0278a 9aac5530-cd38-41ce-bdb0-401e137f4bd9 g.chr11:1619173_1619202delCCCCCACAGGAGCCACAGCCCCCCTTGGAG ENST00000412090.1 - 1 322_351 c.279_308delCTCCAAGGGGGGCTGTGGCTCCTGTGGGGG c.(277-309)ggt>gg p.GSKGGCGSCGG93del KRTAP5-AS1_ENST00000424148.1_RNA NM_001004325.1 NP_001004325.1 Q701N4 KRA52_HUMAN keratin associated protein 5-2 93 6 X 4 AA repeats of C-C-X-P. keratin filament large_intestine(1)|lung(2)|skin(1) 4 all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082) CCCCTTGGAACCCCCACAGGAGCCACAGCCCCCCTTGGAGCCCCCACAGG 0.657 83 509 --- --- --- --- MICALCL 84953 broad.mit.edu 37 11 12316384 12316389 + In_Frame_Del DEL CTCCTA CTCCTA - rs3812754 byFrequency TCGA-DQ-7593-01A-11D-2229-08 TCGA-DQ-7593-10D-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e787781-7308-4964-ad14-1a5222b0278a 9aac5530-cd38-41ce-bdb0-401e137f4bd9 g.chr11:12316384_12316389delCTCCTA ENST00000256186.2 + 3 1697_1702 c.1406_1411delCTCCTA c.(1405-1413)cca>c p.PPT469del NM_032867.2 NP_116256.2 Q6ZW33 MICLK_HUMAN MICAL C-terminal like 469 Poly-Pro. cell differentiation|multicellular organismal development|spermatogenesis cytoplasm mitogen-activated protein kinase binding p.T471delT(2) breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(5)|lung(5)|ovary(3)|skin(3)|upper_aerodigestive_tract(1) 30 Epithelial(150;0.00177) cctcctcctcctcctACAGCGGGAGG 0.573 15 9 --- --- --- --- PRMT8 56341 broad.mit.edu 37 12 3649779 3649780 + Frame_Shift_Ins INS - - C TCGA-DQ-7593-01A-11D-2229-08 TCGA-DQ-7593-10D-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e787781-7308-4964-ad14-1a5222b0278a 9aac5530-cd38-41ce-bdb0-401e137f4bd9 g.chr12:3649779_3649780insC ENST00000382622.3 + 2 473_474 c.83_84insC c.(82-84)accfs p.T28fs PRMT8_ENST00000261252.4_3'UTR|PRMT8_ENST00000452611.2_Frame_Shift_Ins_p.T19fs NM_019854.4 NP_062828.3 Q9NR22 ANM8_HUMAN protein arginine methyltransferase 8 28 regulation of protein binding cytoplasm|plasma membrane histone-arginine N-methyltransferase activity|protein heterodimerization activity|protein homodimerization activity|protein-arginine omega-N asymmetric methyltransferase activity|protein-arginine omega-N monomethyltransferase activity breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(9)|lung(14)|ovary(3)|skin(5)|upper_aerodigestive_tract(1) 37 OV - Ovarian serous cystadenocarcinoma(31;0.0109)|COAD - Colon adenocarcinoma(12;0.0264) CAGGTGAACAGCCCCCCCTCCC 0.658 7 233 --- --- --- --- CLIP1 6249 broad.mit.edu 37 12 122812690 122812691 + Frame_Shift_Ins INS - - T TCGA-DQ-7593-01A-11D-2229-08 TCGA-DQ-7593-10D-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e787781-7308-4964-ad14-1a5222b0278a 9aac5530-cd38-41ce-bdb0-401e137f4bd9 g.chr12:122812690_122812691insT ENST00000358808.2 - 16 3173_3174 c.3019_3020insA c.(3019-3021)ccafs p.P1007fs CLIP1_ENST00000361654.4_Frame_Shift_Ins_p.P896fs|CLIP1_ENST00000537178.1_Frame_Shift_Ins_p.P972fs|CLIP1_ENST00000540338.1_Frame_Shift_Ins_p.P1018fs|CLIP1_ENST00000545889.1_Frame_Shift_Ins_p.P593fs|CLIP1_ENST00000302528.7_Frame_Shift_Ins_p.P1007fs NM_001247997.1|NM_002956.2 NP_001234926.1|NP_002947.1 P30622 CLIP1_HUMAN CAP-GLY domain containing linker protein 1 1018 mitotic prometaphase|positive regulation of microtubule polymerization centrosome|cytosol|endosome|intermediate filament|kinetochore nucleic acid binding|protein homodimerization activity|zinc ion binding NS(1)|breast(5)|endometrium(4)|kidney(5)|large_intestine(16)|liver(1)|lung(21)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 60 all_neural(191;0.0837)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;1.81e-05)|Epithelial(86;6.85e-05)|BRCA - Breast invasive adenocarcinoma(302;0.226) CTGGTTGTGGCTTGTTTCCATT 0.505 8 248 --- --- --- --- IPO4 79711 broad.mit.edu 37 14 24655611 24655611 + Frame_Shift_Del DEL A A - TCGA-DQ-7593-01A-11D-2229-08 TCGA-DQ-7593-10D-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e787781-7308-4964-ad14-1a5222b0278a 9aac5530-cd38-41ce-bdb0-401e137f4bd9 g.chr14:24655611delA ENST00000354464.6 - 10 1063 c.887delT c.(886-888)tcfs p.F296fs RP11-468E2.2_ENST00000561419.1_3'UTR NM_024658.3 NP_078934.3 Q8TEX9 IPO4_HUMAN importin 4 296 intracellular protein transport cytoplasm|nucleus protein binding|protein transporter activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(10)|ovary(1)|stomach(2)|urinary_tract(1) 33 GBM - Glioblastoma multiforme(265;0.0087) CACAATGGGGAAAAGGGTGTG 0.567 7 415 --- --- --- --- ABCA17P 650655 broad.mit.edu 37 16 2475097 2475098 + RNA DEL TC TC - TCGA-DQ-7593-01A-11D-2229-08 TCGA-DQ-7593-10D-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e787781-7308-4964-ad14-1a5222b0278a 9aac5530-cd38-41ce-bdb0-401e137f4bd9 g.chr16:2475097_2475098delTC ENST00000469908.1 + 0 3047 NR_003574.1 GGTAActctgtctctctctctc 0.559 4 3 --- --- --- --- CYLD 1540 broad.mit.edu 37 16 50830344 50830345 + Frame_Shift_Ins INS - - GG TCGA-DQ-7593-01A-11D-2229-08 TCGA-DQ-7593-10D-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e787781-7308-4964-ad14-1a5222b0278a 9aac5530-cd38-41ce-bdb0-401e137f4bd9 g.chr16:50830344_50830345insGG ENST00000540145.1 + 19 3211_3212 c.2796_2797insGG c.(2794-2799)cagctgfs p.L933fs CYLD_ENST00000568704.2_Frame_Shift_Ins_p.L748fs|RP11-327F22.4_ENST00000575917.1_RNA|CYLD_ENST00000398568.2_Frame_Shift_Ins_p.L930fs|CYLD_ENST00000427738.3_Frame_Shift_Ins_p.L933fs|CYLD_ENST00000569418.1_Frame_Shift_Ins_p.L930fs|RP11-327F22.4_ENST00000564510.1_RNA|CYLD_ENST00000564326.1_Frame_Shift_Ins_p.L930fs|CYLD_ENST00000311559.9_Frame_Shift_Ins_p.L933fs Q9NQC7 CYLD_HUMAN cylindromatosis (turban tumor syndrome) 933 cell cycle|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|protein K63-linked deubiquitination|regulation of microtubule cytoskeleton organization|regulation of mitotic cell cycle|translation|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway cytosol|extrinsic to internal side of plasma membrane|microtubule|perinuclear region of cytoplasm|ribosome proline-rich region binding|protein kinase binding|structural constituent of ribosome|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding central_nervous_system(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(9)|lung(17)|pancreas(1)|skin(22)|upper_aerodigestive_tract(1) 62 all_cancers(37;0.0156) GGAGAATCCAAGGCTGTGCACG 0.465 """Mis, N, F, S""" cylindroma cylindroma Multiple Trichoepithelioma, Familial;Familial Cylindromatosis 19 54 --- --- --- --- KRTAP4-1 85285 broad.mit.edu 37 17 39340796 39340852 + In_Frame_Del DEL CGGCAGCAGCTGGACATACCACAGCTGGGGTGGCAGGTGGTCTGACAGCAGAGTGGG CGGCAGCAGCTGGACATACCACAGCTGGGGTGGCAGGTGGTCTGACAGCAGAGTGGG - rs483929 by1000genomes TCGA-DQ-7593-01A-11D-2229-08 TCGA-DQ-7593-10D-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e787781-7308-4964-ad14-1a5222b0278a 9aac5530-cd38-41ce-bdb0-401e137f4bd9 g.chr17:39340796_39340852delCGGCAGCAGCTGGACATACCACAGCTGGGGTGGCAGGTGGTCTGACAGCAGAGTGGG ENST00000398472.1 - 1 742_798 c.255_311delCCCACTCTGCTGTCAGACCACCTGCCACCCCAGCTGTGGTATGTCCAGCTGCTGCCG c.(253-312)cgt>cg p.RPLCCQTTCHPSCGMSSCCR85del Q9BYQ7 KRA41_HUMAN keratin associated protein 4-1 85 18 X 5 AA repeats of C-C-[GRQC]-[SPT]- [VSTL]. Missing (in allele KAP4.10). keratin filament p.H90_C108delHPSCGMSSCCRPLCCQTTC(2)|p.H94_C112delHPSCGMSSCCRPLCCQTTC(2) kidney(1)|large_intestine(1)|lung(1)|prostate(1)|upper_aerodigestive_tract(1) 5 Breast(137;0.000496) STAD - Stomach adenocarcinoma(17;0.000449) ACAGAGTGGACGGCAGCAGCTGGACATACCACAGCTGGGGTGGCAGGTGGTCTGACAGCAGAGTGGGCGGCAGCAGC 0.646 182 83 --- --- --- --- MCOLN1 57192 broad.mit.edu 37 19 7592422 7592423 + Frame_Shift_Ins INS - - C rs145706318 byFrequency TCGA-DQ-7593-01A-11D-2229-08 TCGA-DQ-7593-10D-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e787781-7308-4964-ad14-1a5222b0278a 9aac5530-cd38-41ce-bdb0-401e137f4bd9 g.chr19:7592422_7592423insC ENST00000264079.6 + 5 713_714 c.588_589insC c.(586-591)gaccccfs p.DP196fs NM_020533.2 NP_065394.1 Q9GZU1 MCLN1_HUMAN mucolipin 1 196 calcium ion transport|cellular iron ion homeostasis|transferrin transport integral to plasma membrane|late endosome membrane|lysosomal membrane cation channel activity|iron ion transmembrane transporter activity breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 TCCAGGTGGATCCCCCCGAGCG 0.639 8 501 --- --- --- --- KANTR 102723508 broad.mit.edu 37 X 53142508 53142509 + RNA INS - - A rs145002653 by1000genomes TCGA-DQ-7593-01A-11D-2229-08 TCGA-DQ-7593-10D-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e787781-7308-4964-ad14-1a5222b0278a 9aac5530-cd38-41ce-bdb0-401e137f4bd9 g.chrX:53142508_53142509insA ENST00000604849.1 + 0 96 AACACACACACAAAAAAAAACC 0.356 6 7 --- --- --- --- IRS4 8471 broad.mit.edu 37 X 107977802 107977803 + Frame_Shift_Ins INS - - C TCGA-DQ-7593-01A-11D-2229-08 TCGA-DQ-7593-10D-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e787781-7308-4964-ad14-1a5222b0278a 9aac5530-cd38-41ce-bdb0-401e137f4bd9 g.chrX:107977802_107977803insC ENST00000372129.2 - 1 1848_1849 c.1772_1773insG c.(1771-1773)gaafs p.E591fs NM_003604.2 NP_003595.1 O14654 IRS4_HUMAN insulin receptor substrate 4 591 plasma membrane insulin receptor binding|SH3/SH2 adaptor activity|signal transducer activity NS(1)|breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(1) 78 CTGAGCCTTTGCCCCCCCCAGA 0.545 8 386 --- --- --- ---