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 NACA 4666 broad.mit.edu 37 12 57111912 57111912 + Silent SNP G G A rs2926744 TCGA-HI-7169-01A-11D-2114-08 TCGA-HI-7169-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx e1fc4226-40ce-43b7-b92e-aa7cecd0cf4d 263e1015-1061-4ad2-8f7e-ed430d2d9e80 g.chr12:57111912G>A ENST00000454682.1 - 3 3683 c.3402C>T c.(3400-3402)ccC>ccT p.P1134P NACA_ENST00000546392.1_Intron|NACA_ENST00000356769.3_Intron|NACA_ENST00000393891.4_Intron|NACA_ENST00000551793.1_Intron|NACA_ENST00000550952.1_Intron|NACA_ENST00000548563.1_Intron|NACA_ENST00000552540.1_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 CTTTTGGGGAGGGAGGAGTTG 0.642000 T BCL6 NHL 4 100 0 0 1 0 0 RICTOR 253260 broad.mit.edu 37 5 38945049 38945049 + Silent SNP T T G TCGA-HI-7169-01A-11D-2114-08 TCGA-HI-7169-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx e1fc4226-40ce-43b7-b92e-aa7cecd0cf4d 263e1015-1061-4ad2-8f7e-ed430d2d9e80 g.chr5:38945049T>G ENST00000357387.3 - 35 4785 c.4755A>C c.(4753-4755)tcA>tcC p.S1585S RICTOR_ENST00000296782.5_Silent_p.S1609S NM_152756.3 NP_689969.2 Q6R327 RICTR_HUMAN RPTOR independent companion of MTOR, complex 2 1585 actin cytoskeleton reorganization|embryo development|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of TOR signaling cascade|regulation of protein kinase B signaling cascade|T cell costimulation cytosol|TORC2 complex protein binding NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|prostate(3)|skin(5) 75 all_lung(31;0.000396) TGCTGCTAGCTGAGCCTTCTT 0.408000 39 140 0 0 1 0 0 AKR1C1 1645 broad.mit.edu 37 10 5011016 5011016 + Silent SNP C C T TCGA-HI-7169-01A-11D-2114-08 TCGA-HI-7169-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx e1fc4226-40ce-43b7-b92e-aa7cecd0cf4d 263e1015-1061-4ad2-8f7e-ed430d2d9e80 g.chr10:5011016C>T ENST00000380872.4 + 5 642 c.450C>T c.(448-450)gcC>gcT p.A150A AKR1C1_ENST00000380859.1_Silent_p.A152A|AKR1C1_ENST00000477661.1_3'UTR|AKR1C1_ENST00000434459.2_Silent_p.A150A NM_001353.5 NP_001344.2 aldo-keto reductase family 1, member C1 breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(2)|ovary(3)|prostate(1) 13 TTTCCCAGGCCGTGGAGAAGT 0.463000 3 73 0 0 1 0 0 RNMTL1 55178 broad.mit.edu 37 17 695199 695199 + Missense_Mutation SNP G G A TCGA-HI-7169-01A-11D-2114-08 TCGA-HI-7169-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx e1fc4226-40ce-43b7-b92e-aa7cecd0cf4d 263e1015-1061-4ad2-8f7e-ed430d2d9e80 g.chr17:695199G>A ENST00000304478.4 + 4 1259 c.1153G>A c.(1153-1155)Ggt>Agt p.G385S NM_018146.2 NP_060616.1 Q9HC36 RMTL1_HUMAN RNA methyltransferase like 1 385 RNA processing protein binding|RNA binding|RNA methyltransferase activity breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 10 UCEC - Uterine corpus endometrioid carcinoma (25;0.0219) CGTTGTGCCTGGTGTGGACAG 0.637000 3 54 0 0 1 0 0 NKIRAS1 28512 broad.mit.edu 37 3 23934708 23934708 + Missense_Mutation SNP C C T TCGA-HI-7169-01A-11D-2114-08 TCGA-HI-7169-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx e1fc4226-40ce-43b7-b92e-aa7cecd0cf4d 263e1015-1061-4ad2-8f7e-ed430d2d9e80 g.chr3:23934708C>T ENST00000443659.2 - 4 1234 c.457G>A c.(457-459)Gat>Aat p.D153N NKIRAS1_ENST00000412028.1_Missense_Mutation_p.D153N|NKIRAS1_ENST00000425478.2_Missense_Mutation_p.D153N|NKIRAS1_ENST00000437230.1_Missense_Mutation_p.D153N|NKIRAS1_ENST00000421515.2_Missense_Mutation_p.D153N|NKIRAS1_ENST00000415901.2_Missense_Mutation_p.D153N|NKIRAS1_ENST00000388759.3_Missense_Mutation_p.D153N|NKIRAS1_ENST00000416026.2_Missense_Mutation_p.D153N Q9NYS0 KBRS1_HUMAN NFKB inhibitor interacting Ras-like 1 153 I-kappaB kinase/NF-kappaB cascade|small GTPase mediated signal transduction cytoplasm GTP binding|GTPase activity breast(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1) 7 GTTTTCCGATCTGTAACAGTC 0.443000 9 55 0 0 1 0 0 FUK 197258 broad.mit.edu 37 16 70506485 70506485 + Silent SNP A A G TCGA-HI-7169-01A-11D-2114-08 TCGA-HI-7169-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx e1fc4226-40ce-43b7-b92e-aa7cecd0cf4d 263e1015-1061-4ad2-8f7e-ed430d2d9e80 g.chr16:70506485A>G ENST00000288078.6 + 14 1615 c.1383A>G c.(1381-1383)gaA>gaG p.E461E FUK_ENST00000378912.2_Silent_p.E493E|FUK_ENST00000571514.1_5'UTR NM_145059.2 NP_659496.2 Q8N0W3 FUK_HUMAN fucokinase 461 cytoplasm ATP binding|fucokinase activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(11)|ovary(2)|prostate(2) 23 Ovarian(137;0.0694) CCTGGAGTGAATTCTTCAAGA 0.607000 9 38 0 0 1 0 0 CDK2 1017 broad.mit.edu 37 12 56365358 56365358 + Silent SNP T T C TCGA-HI-7169-01A-11D-2114-08 TCGA-HI-7169-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx e1fc4226-40ce-43b7-b92e-aa7cecd0cf4d 263e1015-1061-4ad2-8f7e-ed430d2d9e80 g.chr12:56365358T>C ENST00000266970.4 + 7 1086 c.846T>C c.(844-846)gcT>gcC p.A282A CDK2_ENST00000440311.2_Silent_p.A222A|CDK2_ENST00000556656.1_3'UTR|CDK2_ENST00000553376.1_Silent_p.A330A|CDK2_ENST00000354056.4_Silent_p.A248A NM_001798.3 NP_001789.2 P24941 CDK2_HUMAN cyclin-dependent kinase 2 282 Protein kinase. anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|blood coagulation|cell division|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA replication|G1/S transition of mitotic cell cycle|G2 phase of mitotic cell cycle|G2/M transition of mitotic cell cycle|histone phosphorylation|M/G1 transition of mitotic cell cycle|mitosis|positive regulation of cell proliferation|Ras protein signal transduction|regulation of DNA replication|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|traversing start control point of mitotic cell cycle cyclin-dependent protein kinase holoenzyme complex|cytosol ATP binding|cyclin-dependent protein kinase activity|identical protein binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 18 UCEC - Uterine corpus endometrioid carcinoma (6;0.123)|OV - Ovarian serous cystadenocarcinoma(18;0.235) CAGCCCTGGCTCACCCTTTCT 0.527000 38 124 0 0 1 0 0 EPHA4 2043 broad.mit.edu 37 2 222301119 222301119 + Splice_Site SNP C C T TCGA-HI-7169-01A-11D-2114-08 TCGA-HI-7169-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx e1fc4226-40ce-43b7-b92e-aa7cecd0cf4d 263e1015-1061-4ad2-8f7e-ed430d2d9e80 g.chr2:222301119C>T ENST00000281821.2 - 13 2387 c.2346_splice c.e13+1 p.R782_splice EPHA4_ENST00000409938.1_Splice_Site_p.R782_splice|EPHA4_ENST00000392071.4_Splice_Site_p.R731_splice|EPHA4_ENST00000409854.1_Splice_Site_p.R782_splice NM_004438.3 NP_004429.1 P54764 EPHA4_HUMAN EPH receptor A4 782 Protein kinase. integral to plasma membrane ATP binding|ephrin receptor activity NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 49 Renal(207;0.0183) Epithelial(121;5.38e-09)|all cancers(144;2.47e-06)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(261;0.0154) TCTTTCTTACCCTGGTGGTGT 0.448000 3 46 0 0 1 0 0 TNFRSF13B 23495 broad.mit.edu 37 17 16842993 16842993 + Silent SNP G G A TCGA-HI-7169-01A-11D-2114-08 TCGA-HI-7169-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx e1fc4226-40ce-43b7-b92e-aa7cecd0cf4d 263e1015-1061-4ad2-8f7e-ed430d2d9e80 g.chr17:16842993G>A ENST00000437538.2 - 4 620 c.612C>T c.(610-612)acC>acT p.T204T TNFRSF13B_ENST00000579315.1_Intron|TNFRSF13B_ENST00000261652.2_Silent_p.T250T|TNFRSF13B_ENST00000583789.1_Silent_p.T204T O14836 TR13B_HUMAN tumor necrosis factor receptor superfamily, member 13B 250 cell surface receptor linked signaling pathway integral to plasma membrane protein binding|receptor activity endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(7)|skin(1) 16 TGGGGTCGGGGGTCCCAGGCG 0.657000 IgA Deficiency, Selective 3 38 0 0 1 0 0 LRP5 4041 broad.mit.edu 37 11 68216515 68216515 + Missense_Mutation SNP T T C TCGA-HI-7169-01A-11D-2114-08 TCGA-HI-7169-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx e1fc4226-40ce-43b7-b92e-aa7cecd0cf4d 263e1015-1061-4ad2-8f7e-ed430d2d9e80 g.chr11:68216515T>C ENST00000294304.7 + 23 4931 c.4825T>C c.(4825-4827)Tcc>Ccc p.S1609P LRP5_ENST00000529481.1_3'UTR NM_002335.2 NP_002326.2 O75197 LRP5_HUMAN low density lipoprotein receptor-related protein 5 1609 Pro-rich. adipose tissue development|bone marrow development|bone morphogenesis|canonical Wnt receptor signaling pathway|cholesterol homeostasis|endocytosis|glucose catabolic process|negative regulation of osteoblast differentiation|negative regulation of protein serine/threonine kinase activity|positive regulation of fat cell differentiation|positive regulation of mesenchymal cell proliferation|positive regulation of mitosis|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of canonical Wnt receptor signaling pathway|retina morphogenesis in camera-type eye|retinal blood vessel morphogenesis|Wnt receptor signaling pathway involved in dorsal/ventral axis specification endoplasmic reticulum|integral to membrane|plasma membrane|receptor complex protein binding|receptor activity autonomic_ganglia(1)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(24)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 63 GCCCCCTCCGTCCCCCTGCAC 0.582000 3 119 0 0 1 0 0 DCAF12L2 340578 broad.mit.edu 37 X 125298898 125298898 + Missense_Mutation SNP C C T TCGA-HI-7169-01A-11D-2114-08 TCGA-HI-7169-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx e1fc4226-40ce-43b7-b92e-aa7cecd0cf4d 263e1015-1061-4ad2-8f7e-ed430d2d9e80 g.chrX:125298898C>T ENST00000538699.1 - 2 1090 c.1010G>A c.(1009-1011)cGc>cAc p.R337H DCAF12L2_ENST00000360028.2_Missense_Mutation_p.R337H NM_001013628.2 NP_001013650.1 Q5VW00 DC122_HUMAN DDB1 and CUL4 associated factor 12-like 2 337 NS(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(36)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(3) 64 GTTCTGCTGGCGCTGGCGCGG 0.622000 32 11 0 0 1 0 0 OR5A2 219981 broad.mit.edu 37 11 59189732 59189732 + Missense_Mutation SNP G G T TCGA-HI-7169-01A-11D-2114-08 TCGA-HI-7169-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx e1fc4226-40ce-43b7-b92e-aa7cecd0cf4d 263e1015-1061-4ad2-8f7e-ed430d2d9e80 g.chr11:59189732G>T ENST00000302040.4 - 1 717 c.695C>A c.(694-696)gCt>gAt p.A232D NM_001001954.1 NP_001001954.1 Q8NGI9 OR5A2_HUMAN olfactory receptor, family 5, subfamily A, member 2 232 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity large_intestine(3)|liver(1)|lung(15)|skin(1)|upper_aerodigestive_tract(1) 21 CCTACCTGTAGCTGAGCTGAT 0.483000 5 42 0.0215528 0.022859 1 1 0 OTUD6B 51633 broad.mit.edu 37 8 92090653 92090653 + Missense_Mutation SNP G G A TCGA-HI-7169-01A-11D-2114-08 TCGA-HI-7169-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx e1fc4226-40ce-43b7-b92e-aa7cecd0cf4d 263e1015-1061-4ad2-8f7e-ed430d2d9e80 g.chr8:92090653G>A ENST00000285420.4 + 4 574 c.475G>A c.(475-477)Gga>Aga p.G159R OTUD6B_ENST00000404789.3_Missense_Mutation_p.G28R NM_016023.3 NP_057107.3 Q8N6M0 OTU6B_HUMAN OTU domain containing 6B 129 OTU. endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2) 11 BRCA - Breast invasive adenocarcinoma(11;0.0187) AAACTTAACAGGAGCCAGACA 0.378000 2 8 0 0 1 0 0 MTRF1L 54516 broad.mit.edu 37 6 153319711 153319711 + Missense_Mutation SNP T T G TCGA-HI-7169-01A-11D-2114-08 TCGA-HI-7169-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx e1fc4226-40ce-43b7-b92e-aa7cecd0cf4d 263e1015-1061-4ad2-8f7e-ed430d2d9e80 g.chr6:153319711T>G ENST00000367233.5 - 2 312 c.313A>C c.(313-315)Aaa>Caa p.K105Q MTRF1L_ENST00000367230.1_Missense_Mutation_p.K105Q|MTRF1L_ENST00000367231.5_Missense_Mutation_p.K105Q|MTRF1L_ENST00000464135.1_5'UTR NM_019041.5 NP_061914.3 Q9UGC7 RF1ML_HUMAN mitochondrial translational release factor 1-like 105 mitochondrion translation release factor activity, codon specific endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|stomach(1)|upper_aerodigestive_tract(1) 10 Ovarian(120;0.125) OV - Ovarian serous cystadenocarcinoma(155;4.24e-10)|BRCA - Breast invasive adenocarcinoma(81;0.0888) GTTATTTCTTTTTGACACAAA 0.303000 3 40 0 0 1 0 0 C2CD4B 388125 broad.mit.edu 37 15 62457107 62457107 + Missense_Mutation SNP G G C TCGA-HI-7169-01A-11D-2114-08 TCGA-HI-7169-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx e1fc4226-40ce-43b7-b92e-aa7cecd0cf4d 263e1015-1061-4ad2-8f7e-ed430d2d9e80 g.chr15:62457107G>C ENST00000380392.3 - 2 205 c.77C>G c.(76-78)aCg>aGg p.T26R NM_001007595.2 NP_001007596.2 A6NLJ0 C2C4B_HUMAN C2 calcium-dependent domain containing 4B 26 nucleus skin(1) 1 GCGATTCGGCGTGAGCACTTT 0.706000 2 5 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179402560 179402560 + Missense_Mutation SNP A A G TCGA-HI-7169-01A-11D-2114-08 TCGA-HI-7169-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx e1fc4226-40ce-43b7-b92e-aa7cecd0cf4d 263e1015-1061-4ad2-8f7e-ed430d2d9e80 g.chr2:179402560A>G ENST00000589042.1 - 355 99598 c.99374T>C c.(99373-99375)gTt>gCt p.V33125A TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.V30557A|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.V24060A|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.V31484A|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.V24185A|TTN_ENST00000342175.6_Missense_Mutation_p.V24252A|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000415561.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000592750.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 31484 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) AGGCCTTCCAACAATCTGGCA 0.433000 7 24 0 0 1 0 0 RUFY1 80230 broad.mit.edu 37 5 179023637 179023637 + Missense_Mutation SNP G G A TCGA-HI-7169-01A-11D-2114-08 TCGA-HI-7169-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx e1fc4226-40ce-43b7-b92e-aa7cecd0cf4d 263e1015-1061-4ad2-8f7e-ed430d2d9e80 g.chr5:179023637G>A ENST00000319449.4 + 13 1598 c.1586G>A c.(1585-1587)aGg>aAg p.R529K RUFY1_ENST00000377001.2_3'UTR|RP11-1379J22.2_ENST00000500262.1_RNA|RUFY1_ENST00000437570.2_Missense_Mutation_p.R421K|RUFY1_ENST00000393438.2_Missense_Mutation_p.R421K NM_025158.4 NP_079434.3 Q96T51 RUFY1_HUMAN RUN and FYVE domain containing 1 529 endocytosis|protein transport early endosome membrane lipid binding|zinc ion binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(11)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 26 all_cancers(89;0.00018)|all_epithelial(37;8.37e-05)|Renal(175;0.000159)|Lung NSC(126;0.00108)|all_lung(126;0.00195) all_cancers(40;0.0322)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)|all_hematologic(541;0.21) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) CTGGGCGGGAGGATCGGCGCC 0.687000 HNSCC(44;0.11) 3 111 0 0 1 0 0 APOBEC1 339 broad.mit.edu 37 12 7802204 7802204 + Missense_Mutation SNP G G A TCGA-HI-7169-01A-11D-2114-08 TCGA-HI-7169-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx e1fc4226-40ce-43b7-b92e-aa7cecd0cf4d 263e1015-1061-4ad2-8f7e-ed430d2d9e80 g.chr12:7802204G>A ENST00000229304.4 - 5 670 c.650C>T c.(649-651)aCg>aTg p.T217M NM_001644.3 NP_001635.2 P41238 ABEC1_HUMAN apolipoprotein B mRNA editing enzyme, catalytic polypeptide 1 217 cytidine to uridine editing|DNA demethylation|lipid metabolic process|mRNA modification|mRNA processing|negative regulation of methylation-dependent chromatin silencing nucleoplasm cytidine deaminase activity|RNA binding|zinc ion binding kidney(2)|large_intestine(2)|lung(10)|prostate(1)|skin(1)|stomach(1) 17 TGGCGGAATCGTTTGGTAATG 0.398000 4 89 0 0 1 0 0 ZNF443 10224 broad.mit.edu 37 19 12541141 12541141 + Silent SNP C C T TCGA-HI-7169-01A-11D-2114-08 TCGA-HI-7169-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx e1fc4226-40ce-43b7-b92e-aa7cecd0cf4d 263e1015-1061-4ad2-8f7e-ed430d2d9e80 g.chr19:12541141C>T ENST00000301547.5 - 4 2042 c.1845G>A c.(1843-1845)ccG>ccA p.P615P CTD-3105H18.16_ENST00000595562.1_Intron NM_005815.4 NP_005806.2 Q9Y2A4 ZN443_HUMAN zinc finger protein 443 615 induction of apoptosis|regulation of transcription, DNA-dependent|response to stress|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(3)|endometrium(1)|kidney(1)|large_intestine(11)|lung(10)|pancreas(1)|prostate(1) 28 TACATTCATACGGGTTCTCTC 0.403000 3 59 0 0 1 0 0 PLCB4 5332 broad.mit.edu 37 20 9364983 9364983 + Missense_Mutation SNP C C T TCGA-HI-7169-01A-11D-2114-08 TCGA-HI-7169-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx e1fc4226-40ce-43b7-b92e-aa7cecd0cf4d 263e1015-1061-4ad2-8f7e-ed430d2d9e80 g.chr20:9364983C>T ENST00000378501.2 + 11 1004 c.989C>T c.(988-990)aCt>aTt p.T330I PLCB4_ENST00000378493.1_Missense_Mutation_p.T330I|PLCB4_ENST00000492632.1_3'UTR|PLCB4_ENST00000378473.3_Missense_Mutation_p.T330I|PLCB4_ENST00000334005.3_Missense_Mutation_p.T330I|PLCB4_ENST00000278655.4_Missense_Mutation_p.T330I|PLCB4_ENST00000414679.2_Missense_Mutation_p.T330I NM_000933.3 NP_000924.3 Q15147 PLCB4_HUMAN phospholipase C, beta 4 330 PI-PLC X-box. intracellular signal transduction|lipid catabolic process cytosol calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1) 87 TCCCATAACACTTATCTCACT 0.468000 19 75 0 0 1 0 0 KRTAP4-9 100132386 broad.mit.edu 37 17 39262078 39262078 + Missense_Mutation SNP G G T TCGA-HI-7169-01A-11D-2114-08 TCGA-HI-7169-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx e1fc4226-40ce-43b7-b92e-aa7cecd0cf4d 263e1015-1061-4ad2-8f7e-ed430d2d9e80 g.chr17:39262078G>T ENST00000391415.1 + 1 495 c.438G>T c.(436-438)caG>caT p.Q146H NM_001146041.1 NP_001139513.1 Q9BYQ8 KRA49_HUMAN keratin associated protein 4-9 146 29 X 5 AA repeats of C-C-[RQVHIEK]- [SPTR]-[VSTQCRNP]. keratin filament central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|urinary_tract(3) 14 tgtgctgccagcccaactgct 0.667000 4 28 0.000602214 0.000669127 1 1 0 FN1 2335 broad.mit.edu 37 2 216259362 216259362 + Nonsense_Mutation SNP G G A TCGA-HI-7169-01A-11D-2114-08 TCGA-HI-7169-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx e1fc4226-40ce-43b7-b92e-aa7cecd0cf4d 263e1015-1061-4ad2-8f7e-ed430d2d9e80 g.chr2:216259362G>A ENST00000354785.4 - 24 4054 c.3685C>T c.(3685-3687)Cag>Tag p.Q1229* FN1_ENST00000421182.1_Nonsense_Mutation_p.Q1229*|FN1_ENST00000346544.3_Nonsense_Mutation_p.Q1229*|FN1_ENST00000359671.1_Nonsense_Mutation_p.Q1229*|FN1_ENST00000357867.4_Nonsense_Mutation_p.Q1229*|FN1_ENST00000357009.2_Nonsense_Mutation_p.Q1229*|FN1_ENST00000356005.4_Nonsense_Mutation_p.Q1229*|FN1_ENST00000345488.5_Nonsense_Mutation_p.Q1229*|FN1_ENST00000336916.4_Nonsense_Mutation_p.Q1229*|FN1_ENST00000446046.1_Nonsense_Mutation_p.Q1229*|FN1_ENST00000443816.1_Nonsense_Mutation_p.Q1229*|FN1_ENST00000432072.2_Nonsense_Mutation_p.Q1229*|FN1_ENST00000323926.6_Nonsense_Mutation_p.Q1229* P02751 FINC_HUMAN fibronectin 1 1229 Fibronectin type-III 7. acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix collagen binding|extracellular matrix structural constituent|heparin binding FN1/ALK(2) NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2) 109 Renal(323;0.127) Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) CAGGAGCTCTGATCAGCATGG 0.453000 6 144 0 0 1 0 0 EPHA6 285220 broad.mit.edu 37 3 97194208 97194208 + Missense_Mutation SNP C C G TCGA-HI-7169-01A-11D-2114-08 TCGA-HI-7169-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx e1fc4226-40ce-43b7-b92e-aa7cecd0cf4d 263e1015-1061-4ad2-8f7e-ed430d2d9e80 g.chr3:97194208C>G ENST00000389672.5 + 8 1945 c.1907C>G c.(1906-1908)gCa>gGa p.A636G EPHA6_ENST00000514100.1_Missense_Mutation_p.A28G|EPHA6_ENST00000502694.1_Missense_Mutation_p.A28G|EPHA6_ENST00000442602.2_Missense_Mutation_p.A2G NM_001080448.2 NP_001073917.2 Q9UF33 EPHA6_HUMAN EPH receptor A6 541 Protein kinase. integral to plasma membrane ATP binding|ephrin receptor activity NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2) 101 TCTGACATGGCAGCAGAACAA 0.403000 3 34 0 0 1 0 0 PGAM4 441531 broad.mit.edu 37 X 77225016 77225016 + Silent SNP G G A TCGA-HI-7169-01A-11D-2114-08 TCGA-HI-7169-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx e1fc4226-40ce-43b7-b92e-aa7cecd0cf4d 263e1015-1061-4ad2-8f7e-ed430d2d9e80 g.chrX:77225016G>A ENST00000458128.1 - 1 119 c.120C>T c.(118-120)cgC>cgT p.R40R ATP7A_ENST00000343533.5_Intron|ATP7A_ENST00000350425.4_Intron|ATP7A_ENST00000341514.6_Intron NM_001029891.2 NP_001025062.1 Q8N0Y7 PGAM4_HUMAN phosphoglycerate mutase family member 4 40 R -> C. glycolysis 2,3-bisphospho-D-glycerate 2-phosphohydrolase activity|bisphosphoglycerate mutase activity|phosphoglycerate mutase activity endometrium(2)|lung(4) 6 CCTGCCCGCCGCGCTTCGCCT 0.627000 7 79 0 0 1 0 0 HIST1H3C 8352 broad.mit.edu 37 6 26045693 26045693 + Missense_Mutation SNP A A C TCGA-HI-7169-01A-11D-2114-08 TCGA-HI-7169-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx e1fc4226-40ce-43b7-b92e-aa7cecd0cf4d 263e1015-1061-4ad2-8f7e-ed430d2d9e80 g.chr6:26045693A>C ENST00000540144.1 + 1 55 c.55A>C c.(55-57)Aag>Cag p.K19Q NM_003531.2 NP_003522.1 P68431 H31_HUMAN histone cluster 1, H3c 19 blood coagulation|nucleosome assembly|regulation of gene silencing|S phase nucleoplasm|nucleosome DNA binding|protein binding NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|ovary(1)|skin(1) 8 AGCTCCGCGCAAGCAGCTTGC 0.577000 7 60 0 0 1 0 0 RDM1 201299 broad.mit.edu 37 17 34247216 34247216 + Missense_Mutation SNP T T C TCGA-HI-7169-01A-11D-2114-08 TCGA-HI-7169-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx e1fc4226-40ce-43b7-b92e-aa7cecd0cf4d 263e1015-1061-4ad2-8f7e-ed430d2d9e80 g.chr17:34247216T>C ENST00000394529.3 - 5 1145 c.659A>G c.(658-660)gAa>gGa p.E220G RDM1_ENST00000293273.6_Missense_Mutation_p.E243G|RDM1_ENST00000425909.3_Intron|RDM1_ENST00000591402.1_Intron|RDM1_ENST00000431884.2_Missense_Mutation_p.E210G|RDM1_ENST00000419453.2_Missense_Mutation_p.E187G NM_001163130.1 NP_001156602.1 Q8NG50 RDM1_HUMAN RAD52 motif 1 243 DNA recombination|DNA repair Cajal body|cytoplasm|nucleolus|PML body DNA binding|nucleotide binding|RNA binding breast(1)|kidney(3)|large_intestine(2)|ovary(1)|skin(1)|stomach(1) 9 Ovarian(249;0.17) UCEC - Uterine corpus endometrioid carcinoma (308;0.0185) TAGTTCTTCTTCGCATCTGAC 0.373000 Other identified genes with known or suspected DNA repair function 7 89 0 0 1 0 0 VPS13A 23230 broad.mit.edu 37 9 80022520 80022520 + Silent SNP C C A TCGA-HI-7169-01A-11D-2114-08 TCGA-HI-7169-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx e1fc4226-40ce-43b7-b92e-aa7cecd0cf4d 263e1015-1061-4ad2-8f7e-ed430d2d9e80 g.chr9:80022520C>A ENST00000360280.3 + 71 9731 c.9471C>A c.(9469-9471)gcC>gcA p.A3157A VPS13A_ENST00000376636.3_Silent_p.A3118A|VPS13A_ENST00000484581.2_Silent_p.A93A|VPS13A_ENST00000376646.3_Silent_p.A93A NM_033305.2 NP_150648.2 Q96RL7 VP13A_HUMAN vacuolar protein sorting 13 homolog A (S. cerevisiae) 3157 Golgi to endosome transport|protein transport intracellular protein binding breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1) 104 CAGAGGATGCCAGGGtaaata 0.318000 3 31 0.014758 0.0158932 1 1 0 ADAMTS17 170691 broad.mit.edu 37 15 100533254 100533254 + Splice_Site SNP G G A rs142633005 TCGA-HI-7169-01A-11D-2114-08 TCGA-HI-7169-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx e1fc4226-40ce-43b7-b92e-aa7cecd0cf4d 263e1015-1061-4ad2-8f7e-ed430d2d9e80 g.chr15:100533254G>A ENST00000268070.4 - 20 3053 c.2949_splice c.e20+1 p.T983_splice NM_139057.2 NP_620688.2 Q8TE56 ATS17_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 17 983 TSP type-1 5. proteolysis intracellular|proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(24)|ovary(3)|prostate(2) 50 Lung NSC(78;0.00299)|all_lung(78;0.00457)|Melanoma(26;0.00571) OV - Ovarian serous cystadenocarcinoma(32;0.0013)|LUSC - Lung squamous cell carcinoma(107;0.132)|Lung(145;0.161) COAD - Colon adenocarcinoma(1;0.111)|all cancers(203;0.219) TGCTCTCACCGTAGACCAGTC 0.617000 3 57 0 0 1 0 0 TSPAN15 23555 broad.mit.edu 37 10 71264232 71264232 + Silent SNP C C T TCGA-HI-7169-01A-11D-2114-08 TCGA-HI-7169-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx e1fc4226-40ce-43b7-b92e-aa7cecd0cf4d 263e1015-1061-4ad2-8f7e-ed430d2d9e80 g.chr10:71264232C>T ENST00000373290.2 + 6 731 c.609C>T c.(607-609)atC>atT p.I203I TSPAN15_ENST00000459981.1_3'UTR NM_012339.3 NP_036471.1 O95858 TSN15_HUMAN tetraspanin 15 203 integral to plasma membrane|membrane fraction breast(1)|endometrium(1)|large_intestine(1)|lung(4)|pancreas(1)|prostate(1) 9 ACAAAACTATCGACAAGGAGG 0.423000 22 91 0 0 1 0 0 FAM47C 442444 broad.mit.edu 37 X 37028425 37028425 + Missense_Mutation SNP A A G rs145580328 byFrequency TCGA-HI-7169-01A-11D-2114-08 TCGA-HI-7169-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx e1fc4226-40ce-43b7-b92e-aa7cecd0cf4d 263e1015-1061-4ad2-8f7e-ed430d2d9e80 g.chrX:37028425A>G ENST00000358047.3 + 1 1994 c.1942A>G c.(1942-1944)Aat>Gat p.N648D NM_001013736.2 NP_001013758.1 Q5HY64 FA47C_HUMAN family with sequence similarity 47, member C 648 p.N648D(7) breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1) 120 GGAGCCTCCCAATACTGGAGT 0.642000 4 70 0 0 1 0 0 RYR3 6263 broad.mit.edu 37 15 34129958 34129958 + Missense_Mutation SNP A A G TCGA-HI-7169-01A-11D-2114-08 TCGA-HI-7169-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx e1fc4226-40ce-43b7-b92e-aa7cecd0cf4d 263e1015-1061-4ad2-8f7e-ed430d2d9e80 g.chr15:34129958A>G ENST00000389232.4 + 89 11847 c.11777A>G c.(11776-11778)gAc>gGc p.D3926G RYR3_ENST00000415757.3_Missense_Mutation_p.D3921G NM_001036.3 NP_001027.3 Q15413 RYR3_HUMAN ryanodine receptor 3 3926 EF-hand. cellular calcium ion homeostasis integral to membrane calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3) 311 all_lung(180;7.18e-09) all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363) ACCAGCTCAGACACCTTCAAA 0.383000 3 16 0 0 1 0 0 CTNNBL1 56259 broad.mit.edu 37 20 36488410 36488410 + Missense_Mutation SNP C C T TCGA-HI-7169-01A-11D-2114-08 TCGA-HI-7169-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx e1fc4226-40ce-43b7-b92e-aa7cecd0cf4d 263e1015-1061-4ad2-8f7e-ed430d2d9e80 g.chr20:36488410C>T ENST00000405275.2 + 15 1664 c.1421C>T c.(1420-1422)gCc>gTc p.A474V CTNNBL1_ENST00000473857.1_3'UTR|CTNNBL1_ENST00000373469.1_Missense_Mutation_p.A249V|CTNNBL1_ENST00000361383.6_Missense_Mutation_p.A501V|CTNNBL1_ENST00000373473.1_Missense_Mutation_p.A314V Q8WYA6 CTBL1_HUMAN catenin, beta like 1 501 apoptosis|positive regulation of apoptosis|somatic diversification of immunoglobulins nucleus enzyme binding autonomic_ganglia(1)|breast(2)|endometrium(9)|large_intestine(6)|lung(6)|ovary(3)|urinary_tract(1) 28 Myeloproliferative disorder(115;0.00878) TACATCATGGCCGAGATCTGC 0.587000 13 46 0 0 1 0 0 ATP13A5 344905 broad.mit.edu 37 3 193082053 193082053 + Missense_Mutation SNP C C T rs78621247 TCGA-HI-7169-01A-11D-2114-08 TCGA-HI-7169-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx e1fc4226-40ce-43b7-b92e-aa7cecd0cf4d 263e1015-1061-4ad2-8f7e-ed430d2d9e80 g.chr3:193082053C>T ENST00000342358.4 - 2 197 c.80G>A c.(79-81)cGg>cAg p.R27Q NM_198505.2 NP_940907.2 Q4VNC0 AT135_HUMAN ATPase type 13A5 27 ATP biosynthetic process|cation transport integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding p.R27L(1)|p.R27Q(1) NS(1)|autonomic_ganglia(2)|breast(1)|endometrium(6)|kidney(4)|large_intestine(15)|liver(2)|lung(26)|ovary(5)|prostate(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 76 all_cancers(143;1.08e-08)|Ovarian(172;0.0386) OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06) GBM - Glioblastoma multiforme(46;0.000307) ATTGTGGTCCCGGTAACCAAA 0.443000 8 181 0 0 1 0 0 UFSP2 55325 broad.mit.edu 37 4 186329110 186329110 + Silent SNP C C T TCGA-HI-7169-01A-11D-2114-08 TCGA-HI-7169-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx e1fc4226-40ce-43b7-b92e-aa7cecd0cf4d 263e1015-1061-4ad2-8f7e-ed430d2d9e80 g.chr4:186329110C>T ENST00000264689.6 - 9 1217 c.1101G>A c.(1099-1101)acG>acA p.T367T NM_018359.3 NP_060829.2 Q9NUQ7 UFSP2_HUMAN UFM1-specific peptidase 2 367 endoplasmic reticulum|nucleus small conjugating protein-specific protease activity endometrium(3)|kidney(1)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 12 all_lung(41;1.3e-11)|Lung NSC(41;2.25e-11)|Melanoma(20;0.00109)|Colorectal(36;0.0215)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749) all cancers(43;3.4e-25)|Epithelial(43;2.23e-22)|OV - Ovarian serous cystadenocarcinoma(60;1.54e-11)|BRCA - Breast invasive adenocarcinoma(30;8.1e-05)|GBM - Glioblastoma multiforme(59;0.000148)|STAD - Stomach adenocarcinoma(60;0.000782)|LUSC - Lung squamous cell carcinoma(40;0.00939)|COAD - Colon adenocarcinoma(29;0.0108)|READ - Rectum adenocarcinoma(43;0.166) GGATTTTTGACGTTATACCGA 0.373000 3 55 0 0 1 0 0 PLCH1 23007 broad.mit.edu 37 3 155199080 155199080 + Missense_Mutation SNP G G A TCGA-HI-7169-01A-11D-2114-08 TCGA-HI-7169-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx e1fc4226-40ce-43b7-b92e-aa7cecd0cf4d 263e1015-1061-4ad2-8f7e-ed430d2d9e80 g.chr3:155199080G>A ENST00000460012.1 - 23 5002 c.4645C>T c.(4645-4647)Cgc>Tgc p.R1549C PLCH1_ENST00000340059.7_Missense_Mutation_p.R1587C|PLCH1_ENST00000414191.1_Missense_Mutation_p.R1549C|PLCH1_ENST00000334686.6_Missense_Mutation_p.R1549C|PLCH1_ENST00000494598.1_Intron|PLCH1_ENST00000447496.2_3'UTR Q4KWH8 PLCH1_HUMAN phospholipase C, eta 1 1587 lipid catabolic process|phosphatidylinositol-mediated signaling membrane calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4) 107 Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114) GCAATATTGCGCACTCTGCTC 0.512000 9 123 0 0 1 0 0 ANK2 287 broad.mit.edu 37 4 114214649 114214649 + Silent SNP C C T TCGA-HI-7169-01A-11D-2114-08 TCGA-HI-7169-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx e1fc4226-40ce-43b7-b92e-aa7cecd0cf4d 263e1015-1061-4ad2-8f7e-ed430d2d9e80 g.chr4:114214649C>T ENST00000357077.4 + 22 2483 c.2430C>T c.(2428-2430)gtC>gtT p.V810V ANK2_ENST00000509550.1_Silent_p.V19V|ANK2_ENST00000506722.1_Silent_p.V789V|ANK2_ENST00000264366.6_Silent_p.V810V|ANK2_ENST00000394537.3_Silent_p.V810V NM_001148.4 NP_001139.3 Q01484 ANK2_HUMAN ankyrin 2, neuronal 810 axon guidance|signal transduction apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere protein binding NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10) 248 Ovarian(17;0.0448)|Hepatocellular(203;0.218) OV - Ovarian serous cystadenocarcinoma(123;4.92e-05) TCTCCGTGGTCGACACCCTGA 0.488000 7 72 0 0 1 0 0 DMXL1 1657 broad.mit.edu 37 5 118533574 118533574 + Silent SNP C C A TCGA-HI-7169-01A-11D-2114-08 TCGA-HI-7169-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx e1fc4226-40ce-43b7-b92e-aa7cecd0cf4d 263e1015-1061-4ad2-8f7e-ed430d2d9e80 g.chr5:118533574C>A ENST00000311085.8 + 32 7748 c.7668C>A c.(7666-7668)acC>acA p.T2556T DMXL1_ENST00000539542.1_Silent_p.T2556T NM_005509.4 NP_005500.4 Q9Y485 DMXL1_HUMAN Dmx-like 1 2556 breast(3)|central_nervous_system(1)|endometrium(14)|kidney(4)|large_intestine(20)|liver(6)|lung(28)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(1) 86 all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231) OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243) CAAGTCATACCGCCGAAGAGA 0.433000 3 140 1 1 1 1 0 TNP1 7141 broad.mit.edu 37 2 217724626 217724626 + Silent SNP G G A TCGA-HI-7169-01A-11D-2114-08 TCGA-HI-7169-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx e1fc4226-40ce-43b7-b92e-aa7cecd0cf4d 263e1015-1061-4ad2-8f7e-ed430d2d9e80 g.chr2:217724626G>A ENST00000236979.2 - 1 161 c.132C>T c.(130-132)ggC>ggT p.G44G AC007563.5_ENST00000447289.1_RNA NM_003284.3 NP_003275.1 P09430 STP1_HUMAN transition protein 1 (during histone to protamine replacement) 44 chromatin silencing|fertilization, exchange of chromosomal proteins|multicellular organismal development|nucleosome disassembly|single strand break repair|sperm motility|spermatid nucleus elongation nucleosome DNA binding large_intestine(1)|lung(1)|stomach(1) 3 Renal(207;0.0822) Epithelial(149;8.97e-07)|all cancers(144;2.46e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) CACCGTCATCGCCCCGTTTCC 0.547000 8 155 0 0 1 0 0 CYP1A2 1544 broad.mit.edu 37 15 75044488 75044488 + Missense_Mutation SNP C C T rs147333000 byFrequency TCGA-HI-7169-01A-11D-2114-08 TCGA-HI-7169-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx e1fc4226-40ce-43b7-b92e-aa7cecd0cf4d 263e1015-1061-4ad2-8f7e-ed430d2d9e80 g.chr15:75044488C>T ENST00000343932.4 + 5 1129 c.1066C>T c.(1066-1068)Cgg>Tgg p.R356W NM_000761.3 NP_000752.2 P05177 CP1A2_HUMAN cytochrome P450, family 1, subfamily A, polypeptide 2 356 alkaloid metabolic process|exogenous drug catabolic process|methylation|monocarboxylic acid metabolic process|monoterpenoid metabolic process|oxidative deethylation|oxidative demethylation|steroid catabolic process|toxin biosynthetic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|caffeine oxidase activity|demethylase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 33 Acenocoumarol(DB01418)|Acetaminophen(DB00316)|Aciclovir(DB00787)|Alosetron(DB00969)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Anagrelide(DB00261)|Azelastine(DB00972)|Bortezomib(DB00188)|Caffeine(DB00201)|Carmustine(DB00262)|Chlordiazepoxide(DB00475)|Chlorpromazine(DB00477)|Chlorzoxazone(DB00356)|Cimetidine(DB00501)|Cinacalcet(DB01012)|Ciprofloxacin(DB00537)|Clomipramine(DB01242)|Clotrimazole(DB00257)|Clozapine(DB00363)|Conjugated Estrogens(DB00286)|Cyclobenzaprine(DB00924)|Dacarbazine(DB00851)|Desloratadine(DB00967)|Diazepam(DB00829)|Dibucaine(DB00527)|Diclofenac(DB00586)|Duloxetine(DB00476)|Enoxacin(DB00467)|Esomeprazole(DB00736)|Estradiol(DB00783)|Estrone(DB00655)|Fluorouracil(DB00544)|Flutamide(DB00499)|Fluvoxamine(DB00176)|Frovatriptan(DB00998)|Grepafloxacin(DB00365)|Haloperidol(DB00502)|Hesperetin(DB01094)|Imipramine(DB00458)|Ketoconazole(DB01026)|Leflunomide(DB01097)|Levobupivacaine(DB01002)|Levofloxacin(DB01137)|Lidocaine(DB00281)|Lomefloxacin(DB00978)|Melatonin(DB01065)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mirtazapine(DB00370)|Norfloxacin(DB01059)|Nortriptyline(DB00540)|Ofloxacin(DB01165)|Olanzapine(DB00334)|Ondansetron(DB00904)|Palonosetron(DB00377)|Pantoprazole(DB00213)|Pefloxacin(DB00487)|Pimozide(DB01100)|Propafenone(DB01182)|Propranolol(DB00571)|Quinidine(DB00908)|Ramelteon(DB00980)|Ranitidine(DB00863)|Rasagiline(DB01367)|Rifampin(DB01045)|Riluzole(DB00740)|Rofecoxib(DB00533)|Ropinirole(DB00268)|Ropivacaine(DB00296)|Tacrine(DB00382)|Telithromycin(DB00976)|Terfenadine(DB00342)|Theophylline(DB00277)|Thiabendazole(DB00730)|Tizanidine(DB00697)|Tolbutamide(DB01124)|Verapamil(DB00661)|Warfarin(DB00682)|Zileuton(DB00744)|Zolmitriptan(DB00315) CAGGGAGCGGCGGCCCCGGCT 0.592000 26 89 0 0 1 0 0 PIK3C2B 5287 broad.mit.edu 37 1 204409361 204409361 + Missense_Mutation SNP C C T TCGA-HI-7169-01A-11D-2114-08 TCGA-HI-7169-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx e1fc4226-40ce-43b7-b92e-aa7cecd0cf4d 263e1015-1061-4ad2-8f7e-ed430d2d9e80 g.chr1:204409361C>T ENST00000367187.3 - 23 3894 c.3338G>A c.(3337-3339)cGc>cAc p.R1113H PIK3C2B_ENST00000424712.2_Missense_Mutation_p.R1085H NM_002646.3 NP_002637.3 O00750 P3C2B_HUMAN phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 beta 1113 PI3K/PI4K. cell communication|phosphatidylinositol-mediated signaling endoplasmic reticulum|microsome|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity|protein binding breast(3)|central_nervous_system(1)|cervix(2)|endometrium(4)|large_intestine(11)|lung(24)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 52 all_cancers(21;0.00347)|all_neural(3;0.0218)|Glioma(3;0.0382)|all_epithelial(62;0.171)|Breast(84;0.179)|Prostate(682;0.227) GBM - Glioblastoma multiforme(2;2.69e-45)|all cancers(3;1.66e-30)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)|Epithelial(59;0.193) GATGACCATGCGCATGTCCAG 0.602000 4 161 0 0 1 0 0 SNX17 9784 broad.mit.edu 37 2 27599549 27599549 + Missense_Mutation SNP A A G TCGA-HI-7169-01A-11D-2114-08 TCGA-HI-7169-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx e1fc4226-40ce-43b7-b92e-aa7cecd0cf4d 263e1015-1061-4ad2-8f7e-ed430d2d9e80 g.chr2:27599549A>G ENST00000233575.2 + 15 1598 c.1376A>G c.(1375-1377)aAt>aGt p.N459S SNX17_ENST00000543024.1_Missense_Mutation_p.N245S|SNX17_ENST00000537606.1_Missense_Mutation_p.N434S|SNX17_ENST00000542478.1_Missense_Mutation_p.N245S NM_001267059.1|NM_001267061.1|NM_014748.3 NP_001253988.1|NP_001253990.1|NP_055563.1 Q15036 SNX17_HUMAN sorting nexin 17 459 cell communication|endosome transport|intracellular protein transport|regulation of endocytosis|signal transduction cytoplasmic vesicle membrane|cytosol|early endosome|Golgi apparatus low-density lipoprotein particle receptor binding|phosphatidylinositol binding|protein C-terminus binding central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(4)|ovary(1) 14 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) GTCCACGGCAATTTCGCCTTC 0.547000 11 47 0 0 1 0 0 GPR108 56927 broad.mit.edu 37 19 6731108 6731108 + Silent SNP G G A TCGA-HI-7169-01A-11D-2114-08 TCGA-HI-7169-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx e1fc4226-40ce-43b7-b92e-aa7cecd0cf4d 263e1015-1061-4ad2-8f7e-ed430d2d9e80 g.chr19:6731108G>A ENST00000264080.7 - 17 1475 c.1449C>T c.(1447-1449)ggC>ggT p.G483G GPR108_ENST00000430424.4_Silent_p.G241G|GPR108_ENST00000598626.1_Intron NM_001080452.1 NP_001073921.1 Q9NPR9 GP108_HUMAN G protein-coupled receptor 108 483 integral to membrane breast(2)|cervix(1)|large_intestine(4)|lung(4)|skin(1)|urinary_tract(1) 13 CCAGGGTGGAGCCCTCCACCA 0.692000 3 45 0 0 1 0 0 HNF4G 3174 broad.mit.edu 37 8 76463690 76463690 + Silent SNP C C T TCGA-HI-7169-01A-11D-2114-08 TCGA-HI-7169-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx e1fc4226-40ce-43b7-b92e-aa7cecd0cf4d 263e1015-1061-4ad2-8f7e-ed430d2d9e80 g.chr8:76463690C>T ENST00000396423.2 + 4 544 c.420C>T c.(418-420)tcC>tcT p.S140S HNF4G_ENST00000354370.1_Silent_p.S103S NM_004133.4 NP_004124.4 Q14541 HNF4G_HUMAN hepatocyte nuclear factor 4, gamma 103 endocrine pancreas development|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 37 Breast(64;0.0448) BRCA - Breast invasive adenocarcinoma(89;0.161) ACATCCCCTCCATTAACACAC 0.448000 7 64 0 0 1 0 0 CELSR1 9620 broad.mit.edu 37 22 46760120 46760120 + Silent SNP C C T TCGA-HI-7169-01A-11D-2114-08 TCGA-HI-7169-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx e1fc4226-40ce-43b7-b92e-aa7cecd0cf4d 263e1015-1061-4ad2-8f7e-ed430d2d9e80 g.chr22:46760120C>T ENST00000262738.3 - 34 8807 c.8808G>A c.(8806-8808)ccG>ccA p.P2936P NM_014246.1 NP_055061.1 Q9NYQ6 CELR1_HUMAN cadherin, EGF LAG seven-pass G-type receptor 1 2936 central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway integral to plasma membrane calcium ion binding|G-protein coupled receptor activity|protein dimerization activity breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3) 95 Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766) UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171) TCAGCGGCGGCGGGTAGGTGA 0.657000 7 91 0 0 1 0 0 POLR1C 9533 broad.mit.edu 37 6 43484884 43484884 + Missense_Mutation SNP C C G TCGA-HI-7169-01A-11D-2114-08 TCGA-HI-7169-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx e1fc4226-40ce-43b7-b92e-aa7cecd0cf4d 263e1015-1061-4ad2-8f7e-ed430d2d9e80 g.chr6:43484884C>G ENST00000372389.3 + 1 125 c.37C>G c.(37-39)Cgc>Ggc p.R13G POLR1C_ENST00000372344.2_Missense_Mutation_p.R13G|POLR1C_ENST00000304004.3_Missense_Mutation_p.R13G NM_203290.2 NP_976035.1 O15160 RPAC1_HUMAN polymerase (RNA) I polypeptide C, 30kDa 13 termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter DNA-directed RNA polymerase I complex|nucleoplasm DNA binding|DNA-directed RNA polymerase activity|protein dimerization activity kidney(1)|large_intestine(2)|lung(1)|prostate(1) 5 all_cancers(18;3.79e-05)|Lung NSC(15;0.00217)|all_lung(25;0.00536) Colorectal(64;0.00245)|all cancers(41;0.00511)|COAD - Colon adenocarcinoma(64;0.00536)|OV - Ovarian serous cystadenocarcinoma(102;0.0711) AATGCGGAGCCGCGTGGTTCT 0.597000 7 121 0 0 1 0 0 SH3TC2 79628 broad.mit.edu 37 5 148406691 148406691 + Missense_Mutation SNP C C A TCGA-HI-7169-01A-11D-2114-08 TCGA-HI-7169-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx e1fc4226-40ce-43b7-b92e-aa7cecd0cf4d 263e1015-1061-4ad2-8f7e-ed430d2d9e80 g.chr5:148406691C>A ENST00000538184.1 - 7 2133 c.1245G>T c.(1243-1245)gaG>gaT p.E415D SH3TC2_ENST00000394358.2_Missense_Mutation_p.E753D|SH3TC2_ENST00000515425.1_Missense_Mutation_p.E868D|SH3TC2_ENST00000512049.1_Missense_Mutation_p.E861D Q8TF17 S3TC2_HUMAN SH3 domain and tetratricopeptide repeats 2 868 binding breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 39 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CATCTCCCACCTCCTGGGCTC 0.572000 5 184 1 1 1 1 0 MON2 23041 broad.mit.edu 37 12 62902191 62902191 + Silent SNP A A G TCGA-HI-7169-01A-11D-2114-08 TCGA-HI-7169-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx e1fc4226-40ce-43b7-b92e-aa7cecd0cf4d 263e1015-1061-4ad2-8f7e-ed430d2d9e80 g.chr12:62902191A>G ENST00000393630.3 + 8 1306 c.915A>G c.(913-915)ccA>ccG p.P305P MON2_ENST00000552115.1_Silent_p.P305P|MON2_ENST00000552738.1_Silent_p.P305P|MON2_ENST00000546600.1_Silent_p.P305P|MON2_ENST00000280379.6_Silent_p.P305P|MON2_ENST00000393629.2_Silent_p.P305P|MON2_ENST00000549378.1_3'UTR|MON2_ENST00000393632.2_Silent_p.P305P NM_001278470.1|NM_001278472.1 NP_001265399.1|NP_001265401.1 Q7Z3U7 MON2_HUMAN MON2 homolog (S. cerevisiae) 305 Golgi to endosome transport|protein transport cytoplasm ARF guanyl-nucleotide exchange factor activity|binding NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(15)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 57 BRCA - Breast invasive adenocarcinoma(9;0.218) GBM - Glioblastoma multiforme(28;0.128) TTGAAAAACCATATTTTCCTA 0.373000 37 80 0 0 1 0 0 ARHGAP31 57514 broad.mit.edu 37 3 119133914 119133914 + Silent SNP A A C TCGA-HI-7169-01A-11D-2114-08 TCGA-HI-7169-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx e1fc4226-40ce-43b7-b92e-aa7cecd0cf4d 263e1015-1061-4ad2-8f7e-ed430d2d9e80 g.chr3:119133914A>C ENST00000264245.4 + 12 3670 c.3138A>C c.(3136-3138)ctA>ctC p.L1046L NM_020754.2 NP_065805.2 Q2M1Z3 RHG31_HUMAN Rho GTPase activating protein 31 1046 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|focal adhesion|lamellipodium GTPase activator activity breast(5)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(3)|large_intestine(11)|lung(29)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 67 GAAAGGAGCTAGGGACACACC 0.592000 35 112 0 0 1 0 0 RYR1 6261 broad.mit.edu 37 19 38976783 38976783 + Missense_Mutation SNP G G A rs147603571 TCGA-HI-7169-01A-11D-2114-08 TCGA-HI-7169-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx e1fc4226-40ce-43b7-b92e-aa7cecd0cf4d 263e1015-1061-4ad2-8f7e-ed430d2d9e80 g.chr19:38976783G>A ENST00000355481.4 + 34 5619 c.5488G>A c.(5488-5490)Gtc>Atc p.V1830I RYR1_ENST00000360985.3_Missense_Mutation_p.V1830I|RYR1_ENST00000359596.3_Missense_Mutation_p.V1830I NM_000540.2|NM_001042723.1 NP_000531.2|NP_001036188.1 P21817 RYR1_HUMAN ryanodine receptor 1 (skeletal) 1830 6 X approximate repeats. muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7) 285 all_cancers(60;7.91e-06) Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272) Dantrolene(DB01219) TCGCGACCCCGTCGGGGGCTC 0.667000 5 190 0 0 1 0 0 RBM15 64783 broad.mit.edu 37 1 110882266 110882266 + Missense_Mutation SNP G G A TCGA-HI-7169-01A-11D-2114-08 TCGA-HI-7169-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx e1fc4226-40ce-43b7-b92e-aa7cecd0cf4d 263e1015-1061-4ad2-8f7e-ed430d2d9e80 g.chr1:110882266G>A ENST00000369784.3 + 1 1139 c.239G>A c.(238-240)aGc>aAc p.S80N RBM15_ENST00000487146.2_Missense_Mutation_p.S80N|RBM15_ENST00000602849.1_Missense_Mutation_p.S80N NM_022768.4 NP_073605.4 Q96T37 RBM15_HUMAN RNA binding motif protein 15 80 Gly/Ser-rich. interspecies interaction between organisms nucleus nucleotide binding|protein binding|RNA binding ovary(3) 3 all_cancers(81;2.89e-06)|all_epithelial(167;2.96e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)|Breast(1374;0.0634) BRCA - Breast invasive adenocarcinoma(282;0.000224)|Epithelial(280;0.000476)|Kidney(133;0.000539)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|all cancers(265;0.00144)|Lung(183;0.0238)|Colorectal(144;0.103)|LUSC - Lung squamous cell carcinoma(189;0.135) TCTGGTGGCAGCAATGGGAGC 0.637000 T MKL1 acute megakaryocytic leukemia OREG0013656 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 3 54 0 0 1 0 0 TAF9 6880 broad.mit.edu 37 5 68660800 68660800 + Silent SNP A A G TCGA-HI-7169-01A-11D-2114-08 TCGA-HI-7169-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx e1fc4226-40ce-43b7-b92e-aa7cecd0cf4d 263e1015-1061-4ad2-8f7e-ed430d2d9e80 g.chr5:68660800A>G ENST00000328663.4 - 3 1231 c.765T>C c.(763-765)gaT>gaC p.D255D TAF9_ENST00000512561.1_Intron|TAF9_ENST00000506736.1_Silent_p.D255D|TAF9_ENST00000217893.5_Silent_p.D255D|TAF9_ENST00000502819.1_Intron|TAF9_ENST00000380818.3_Intron|TAF9_ENST00000380822.4_Intron NM_001015892.1 NP_001015892.1 Q9Y3D8 KAD6_HUMAN TAF9 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 32kDa 59 Cajal body adenylate kinase activity|ATP binding|protein binding p.D255D(1) central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(4)|urinary_tract(1) 8 Lung NSC(167;7.26e-05)|Prostate(74;0.0143)|Ovarian(174;0.0448)|Breast(144;0.198) OV - Ovarian serous cystadenocarcinoma(47;1.1e-56)|Epithelial(20;9.54e-53)|all cancers(19;2.2e-48)|Lung(70;0.0176) catcatcatcatcgtcatcat 0.318000 3 57 0 0 1 0 0 H6PD 9563 broad.mit.edu 37 1 9323958 9323958 + Missense_Mutation SNP G G A rs113495544 byFrequency TCGA-HI-7169-01A-11D-2114-08 TCGA-HI-7169-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx e1fc4226-40ce-43b7-b92e-aa7cecd0cf4d 263e1015-1061-4ad2-8f7e-ed430d2d9e80 g.chr1:9323958G>A ENST00000377403.2 + 5 1708 c.1406G>A c.(1405-1407)cGg>cAg p.R469Q H6PD_ENST00000602477.1_Missense_Mutation_p.R480Q NM_004285.3 NP_004276.2 O95479 G6PE_HUMAN hexose-6-phosphate dehydrogenase (glucose 1-dehydrogenase) 469 Glucose 1-dehydrogenase. endoplasmic reticulum lumen 6-phosphogluconolactonase activity|glucose 1-dehydrogenase|glucose-6-phosphate dehydrogenase activity|NADP binding breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|upper_aerodigestive_tract(1) 23 all_lung(157;0.23) all_epithelial(116;1.28e-19)|all_lung(118;5.22e-06)|Lung NSC(185;1.98e-05)|Renal(390;0.000147)|Breast(348;0.00109)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;1.88e-07)|COAD - Colon adenocarcinoma(227;7.47e-05)|Kidney(185;0.000244)|KIRC - Kidney renal clear cell carcinoma(229;0.000905)|STAD - Stomach adenocarcinoma(132;0.00176)|BRCA - Breast invasive adenocarcinoma(304;0.00183)|READ - Rectum adenocarcinoma(331;0.0419) NADH(DB00157) TTCCATGGCCGGAAGAATTTC 0.597000 4 123 0 0 1 0 0 CDHR3 222256 broad.mit.edu 37 7 105641939 105641939 + Silent SNP C C T TCGA-HI-7169-01A-11D-2114-08 TCGA-HI-7169-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx e1fc4226-40ce-43b7-b92e-aa7cecd0cf4d 263e1015-1061-4ad2-8f7e-ed430d2d9e80 g.chr7:105641939C>T ENST00000542731.1 + 7 853 c.745C>T c.(745-747)Ctg>Ttg p.L249L CDHR3_ENST00000470188.1_Intron|CDHR3_ENST00000541203.1_Silent_p.N149N|CDHR3_ENST00000317716.9_Silent_p.L249L|CDHR3_ENST00000343407.5_5'UTR|CDHR3_ENST00000478080.1_Silent_p.L161L Q6ZTQ4 CDHR3_HUMAN cadherin-related family member 3 249 Cadherin 3. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(1)|cervix(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(15)|ovary(1) 23 CCTGGAGGAACTGAGTCCAGG 0.517000 5 97 0 0 1 0 0 ANO7 50636 broad.mit.edu 37 2 242142854 242142854 + Missense_Mutation SNP C C T TCGA-HI-7169-01A-11D-2114-08 TCGA-HI-7169-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx e1fc4226-40ce-43b7-b92e-aa7cecd0cf4d 263e1015-1061-4ad2-8f7e-ed430d2d9e80 g.chr2:242142854C>T ENST00000274979.8 + 9 1095 c.992C>T c.(991-993)cCc>cTc p.P331L ANO7_ENST00000402430.3_Missense_Mutation_p.P330L NM_001001891.3 NP_001001891.2 Q6IWH7 ANO7_HUMAN anoctamin 7 331 cell junction|chloride channel complex|cytosol chloride channel activity NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(14)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2) 32 AAGTACCAGCCCCTGGACCAC 0.687000 6 10 0 0 1 0 0 TCHH 7062 broad.mit.edu 37 1 152082320 152082320 + Missense_Mutation SNP T T C TCGA-HI-7169-01A-11D-2114-08 TCGA-HI-7169-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx e1fc4226-40ce-43b7-b92e-aa7cecd0cf4d 263e1015-1061-4ad2-8f7e-ed430d2d9e80 g.chr1:152082320T>C ENST00000368804.1 - 2 3372 c.3373A>G c.(3373-3375)Aga>Gga p.R1125G NM_007113.2 NP_009044.2 Q07283 TRHY_HUMAN trichohyalin 1125 10 X 30 AA tandem repeats. keratinization cytoskeleton calcium ion binding NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4) 105 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) cgttcctctctcagcagctgc 0.612000 4 109 0 0 1 0 0 FAT3 120114 broad.mit.edu 37 11 92531778 92531778 + Missense_Mutation SNP G G A TCGA-HI-7169-01A-11D-2114-08 TCGA-HI-7169-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx e1fc4226-40ce-43b7-b92e-aa7cecd0cf4d 263e1015-1061-4ad2-8f7e-ed430d2d9e80 g.chr11:92531778G>A ENST00000298047.6 + 9 5616 c.5599G>A c.(5599-5601)Gtt>Att p.V1867I FAT3_ENST00000409404.2_Missense_Mutation_p.V1867I|FAT3_ENST00000525166.1_Missense_Mutation_p.V1717I Q8TDW7 FAT3_HUMAN FAT atypical cadherin 3 1867 Cadherin 16. homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5) 85 Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858) AGAGAGTCCCGTTGAAGTCAA 0.453000 TCGA Ovarian(4;0.039) 6 30 0 0 1 0 0 ACIN1 22985 broad.mit.edu 37 14 23559257 23559257 + Missense_Mutation SNP G G C TCGA-HI-7169-01A-11D-2114-08 TCGA-HI-7169-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx e1fc4226-40ce-43b7-b92e-aa7cecd0cf4d 263e1015-1061-4ad2-8f7e-ed430d2d9e80 g.chr14:23559257G>C ENST00000262710.1 - 4 871 c.544C>G c.(544-546)Ctg>Gtg p.L182V ACIN1_ENST00000605057.1_Missense_Mutation_p.L124V|ACIN1_ENST00000555053.1_Missense_Mutation_p.L182V|ACIN1_ENST00000457657.1_Intron NM_001164814.1|NM_014977.3 NP_001158286.1|NP_055792.1 Q9UKV3 ACINU_HUMAN apoptotic chromatin condensation inducer 1 182 Glu-rich. apoptotic chromosome condensation|erythrocyte differentiation|positive regulation of monocyte differentiation cytosol ATPase activity|enzyme binding|nucleic acid binding|nucleotide binding breast(1)|endometrium(6)|kidney(4)|large_intestine(9)|lung(10)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 37 all_cancers(95;1.36e-05) GBM - Glioblastoma multiforme(265;0.00816) GGAGGCAGCAGGGAAGCCACT 0.582000 3 23 0 0 1 0 0 ESAM 90952 broad.mit.edu 37 11 124623669 124623669 + Missense_Mutation SNP G G A TCGA-HI-7169-01A-11D-2114-08 TCGA-HI-7169-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx e1fc4226-40ce-43b7-b92e-aa7cecd0cf4d 263e1015-1061-4ad2-8f7e-ed430d2d9e80 g.chr11:124623669G>A ENST00000278927.5 - 7 1175 c.1046C>T c.(1045-1047)aCg>aTg p.T349M ESAM_ENST00000442070.2_Intron NM_138961.2 NP_620411.2 Q96AP7 ESAM_HUMAN endothelial cell adhesion molecule 349 blood coagulation|leukocyte migration adherens junction|integral to membrane|tight junction endometrium(2)|kidney(1)|large_intestine(6)|lung(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1) 16 all_hematologic(175;0.215) Breast(109;0.00109)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.022) CCCATCTGTCGTGGGCAGTCT 0.667000 16 74 0 0 1 0 0 LBR 3930 broad.mit.edu 37 1 225591013 225591013 + Missense_Mutation SNP T T C TCGA-HI-7169-01A-11D-2114-08 TCGA-HI-7169-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx e1fc4226-40ce-43b7-b92e-aa7cecd0cf4d 263e1015-1061-4ad2-8f7e-ed430d2d9e80 g.chr1:225591013T>C ENST00000338179.2 - 14 1965 c.1840A>G c.(1840-1842)Atc>Gtc p.I614V LBR_ENST00000272163.4_Missense_Mutation_p.I614V NM_194442.2 NP_919424.1 Q14739 LBR_HUMAN lamin B receptor 614 cholesterol biosynthetic process integral to nuclear inner membrane chromo shadow domain binding|delta14-sterol reductase activity|DNA binding|lamin binding|receptor activity breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 22 Breast(184;0.165) GBM - Glioblastoma multiforme(131;0.117) CATTAGTAGATGTATGGAAAT 0.433000 9 112 0 0 1 0 0 SLCO3A1 28232 broad.mit.edu 37 15 92671666 92671666 + Missense_Mutation SNP G G A TCGA-HI-7169-01A-11D-2114-08 TCGA-HI-7169-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx e1fc4226-40ce-43b7-b92e-aa7cecd0cf4d 263e1015-1061-4ad2-8f7e-ed430d2d9e80 g.chr15:92671666G>A ENST00000318445.6 + 7 1673 c.1459G>A c.(1459-1461)Ggg>Agg p.G487R SLCO3A1_ENST00000555549.1_3'UTR|SLCO3A1_ENST00000424469.2_Missense_Mutation_p.G487R NM_013272.3 NP_037404.2 Q9UIG8 SO3A1_HUMAN solute carrier organic anion transporter family, member 3A1 487 Kazal-like. sodium-independent organic anion transport integral to membrane|plasma membrane sodium-independent organic anion transmembrane transporter activity breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)|skin(2) 25 Lung NSC(78;0.0158)|all_lung(78;0.0255) BRCA - Breast invasive adenocarcinoma(143;0.0841) TCCAGTGTGTGGGGCAGATGG 0.562000 3 150 0 0 1 0 0 PCDHGB1 0 broad.mit.edu 37 5 140729950 140729950 + Silent SNP C C T TCGA-HI-7169-01A-11D-2114-08 TCGA-HI-7169-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx e1fc4226-40ce-43b7-b92e-aa7cecd0cf4d 263e1015-1061-4ad2-8f7e-ed430d2d9e80 g.chr5:140729950C>T ENST00000523390.1 + 1 123 c.123C>T c.(121-123)aaC>aaT p.N41N PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA2_ENST00000394576.2_Intron NM_018922.2|NM_032095.1 NP_061745.1|NP_115266.1 central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|prostate(1) 16 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) AGCTAGCCAACGGCTCACGGG 0.522000 OREG0016856 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 5 20 0 0 1 0 0 PCDH9 5101 broad.mit.edu 37 13 67205385 67205385 + Silent SNP C C T TCGA-HI-7169-01A-11D-2114-08 TCGA-HI-7169-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx e1fc4226-40ce-43b7-b92e-aa7cecd0cf4d 263e1015-1061-4ad2-8f7e-ed430d2d9e80 g.chr13:67205385C>T ENST00000544246.1 - 4 3988 c.3297G>A c.(3295-3297)ccG>ccA p.P1099P PCDH9_ENST00000456367.1_Silent_p.P1065P|PCDH9_ENST00000377865.2_Silent_p.P1099P|PCDH9_ENST00000328454.5_Silent_p.P1065P NM_203487.2 NP_982354.1 Q9HC56 PCDH9_HUMAN protocadherin 9 1099 homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(2)|central_nervous_system(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(33)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(3) 103 Hepatocellular(98;0.0906)|Breast(118;0.107) GBM - Glioblastoma multiforme(99;0.00819) TCCTCTTGTCCGGAGAGGCCT 0.512000 7 116 0 0 1 0 0 CROCCP2 0 broad.mit.edu 37 1 16957305 16957306 + RNA INS - - C rs139092192 by1000genomes TCGA-HI-7169-01A-11D-2114-08 TCGA-HI-7169-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx e1fc4226-40ce-43b7-b92e-aa7cecd0cf4d 263e1015-1061-4ad2-8f7e-ed430d2d9e80 g.chr1:16957305_16957306insC ENST00000412962.1 - 0 294 CCCCAGACACGCCCCCACCCCC 0.663 3 3 --- --- --- --- ZNF644 84146 broad.mit.edu 37 1 91406039 91406040 + Frame_Shift_Ins INS - - T TCGA-HI-7169-01A-11D-2114-08 TCGA-HI-7169-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx e1fc4226-40ce-43b7-b92e-aa7cecd0cf4d 263e1015-1061-4ad2-8f7e-ed430d2d9e80 g.chr1:91406039_91406040insT ENST00000370440.1 - 3 1088_1089 c.871_872insA c.(871-873)aaafs p.K291fs ZNF644_ENST00000347275.5_Intron|ZNF644_ENST00000467231.1_Intron|ZNF644_ENST00000361321.5_Intron|ZNF644_ENST00000337393.5_Frame_Shift_Ins_p.K291fs Q9H582 ZN644_HUMAN zinc finger protein 644 291 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(4)|endometrium(2)|large_intestine(10)|lung(21)|ovary(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2) 47 all_lung(203;0.00206)|Lung NSC(277;0.0519)|Lung SC(238;0.101) all cancers(265;0.00102)|Epithelial(280;0.00766)|KIRC - Kidney renal clear cell carcinoma(1967;0.147)|OV - Ovarian serous cystadenocarcinoma(397;0.173) TTTTCGCTTTCTTTTTTTTTCT 0.337 7 54 --- --- --- --- SMG7 9887 broad.mit.edu 37 1 183515266 183515267 + Frame_Shift_Ins INS - - A TCGA-HI-7169-01A-11D-2114-08 TCGA-HI-7169-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx e1fc4226-40ce-43b7-b92e-aa7cecd0cf4d 263e1015-1061-4ad2-8f7e-ed430d2d9e80 g.chr1:183515266_183515267insA ENST00000367537.3 + 18 2680_2681 c.2485_2486insA c.(2485-2487)aaafs p.K829fs SMG7_ENST00000347615.2_Frame_Shift_Ins_p.K846fs|SMG7_ENST00000515829.2_Frame_Shift_Ins_p.K800fs|SMG7_ENST00000507469.1_Frame_Shift_Ins_p.K800fs|SMG7_ENST00000508461.1_Frame_Shift_Ins_p.K804fs|SMG7_ENST00000456731.2_Frame_Shift_Ins_p.K758fs Q92540 SMG7_HUMAN SMG7 nonsense mediated mRNA decay factor 846 Gln/Pro-rich. mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation cytoplasm|intermediate filament cytoskeleton|nucleus protein phosphatase 2A binding p.?(1) breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(16)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 46 GCAGCCTCTAGAAAAAAAAATG 0.450 7 67 --- --- --- --- TMEM131 23505 broad.mit.edu 37 2 98382597 98382597 + Frame_Shift_Del DEL G G - TCGA-HI-7169-01A-11D-2114-08 TCGA-HI-7169-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx e1fc4226-40ce-43b7-b92e-aa7cecd0cf4d 263e1015-1061-4ad2-8f7e-ed430d2d9e80 g.chr2:98382597delG ENST00000186436.5 - 35 4931 c.4703delC c.(4702-4704)cafs p.P1568fs NM_015348.1 NP_056163.1 Q92545 TM131_HUMAN transmembrane protein 131 1568 integral to membrane NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(4)|prostate(1)|skin(1)|stomach(1) 57 TTTGTGAACTGGAACGGAATC 0.512 20 49 --- --- --- --- C2orf82 389084 broad.mit.edu 37 2 233740763 233740763 + Frame_Shift_Del DEL C C - TCGA-HI-7169-01A-11D-2114-08 TCGA-HI-7169-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx e1fc4226-40ce-43b7-b92e-aa7cecd0cf4d 263e1015-1061-4ad2-8f7e-ed430d2d9e80 g.chr2:233740763delC ENST00000409230.1 + 3 434 c.187delC c.(187-189)ccfs p.P64fs C2orf82_ENST00000409533.1_Frame_Shift_Del_p.P64fs|C2orf82_ENST00000331342.2_Frame_Shift_Del_p.P64fs Q6UX34 CB082_HUMAN chromosome 2 open reading frame 82 64 integral to membrane GGACACCGGTCCCCCAGCCCC 0.781 2 4 --- --- --- --- ZAN 7455 broad.mit.edu 37 7 100388502 100388502 + RNA DEL A A - rs5886138 TCGA-HI-7169-01A-11D-2114-08 TCGA-HI-7169-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx e1fc4226-40ce-43b7-b92e-aa7cecd0cf4d 263e1015-1061-4ad2-8f7e-ed430d2d9e80 g.chr7:100388502delA ENST00000542585.1 + 0 7502 ZAN_ENST00000349350.6_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000449052.1_RNA NM_003386.1 NP_003377.1 Q9Y493 ZAN_HUMAN zonadhesin (gene/pseudogene) binding of sperm to zona pellucida|cell-cell adhesion integral to membrane|plasma membrane NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3) 139 Lung NSC(181;0.041)|all_lung(186;0.0581) STAD - Stomach adenocarcinoma(171;0.19) aagactgtctaaaaaaaaaaa 0.522 3 4 --- --- --- --- HNRNPKP3 0 broad.mit.edu 37 11 43283605 43283606 + RNA INS - - A TCGA-HI-7169-01A-11D-2114-08 TCGA-HI-7169-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx e1fc4226-40ce-43b7-b92e-aa7cecd0cf4d 263e1015-1061-4ad2-8f7e-ed430d2d9e80 g.chr11:43283605_43283606insA ENST00000511537.1 - 0 1329_1330 NR_033868.1 GAAGCAAATGTAAAAAAAAAAA 0.386 3 6 --- --- --- --- RP11-551L14.1 0 broad.mit.edu 37 12 31269189 31269190 + RNA INS - - ATCAT rs35880498 TCGA-HI-7169-01A-11D-2114-08 TCGA-HI-7169-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx e1fc4226-40ce-43b7-b92e-aa7cecd0cf4d 263e1015-1061-4ad2-8f7e-ed430d2d9e80 g.chr12:31269189_31269190insATCAT ENST00000542490.1 - 0 165 central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(25)|prostate(3)|stomach(3)|urinary_tract(1) 41 CATGAGAACTCATTACCATGAT 0.351 5 3 --- --- --- --- GLTSCR1 29998 broad.mit.edu 37 19 48204803 48204805 + In_Frame_Del DEL TCC TCC - TCGA-HI-7169-01A-11D-2114-08 TCGA-HI-7169-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx e1fc4226-40ce-43b7-b92e-aa7cecd0cf4d 263e1015-1061-4ad2-8f7e-ed430d2d9e80 g.chr19:48204803_48204805delTCC ENST00000396720.3 + 15 4008_4010 c.3814_3816delTCC c.(3814-3816)del p.S1276del CTD-2571L23.8_ENST00000599924.1_lincRNA NM_015711.3 NP_056526.3 Q9NZM4 GSCR1_HUMAN glioma tumor suppressor candidate region gene 1 1276 Poly-Ser. protein binding breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|pancreas(3)|prostate(4)|skin(2) 20 all_cancers(25;1.8e-07)|all_lung(116;5.73e-06)|Lung NSC(112;9.69e-06)|all_epithelial(76;2.42e-05)|all_neural(266;0.0332)|Ovarian(192;0.086) all cancers(93;0.000358)|OV - Ovarian serous cystadenocarcinoma(262;0.000576)|Epithelial(262;0.0212)|GBM - Glioblastoma multiforme(486;0.0355) gtcctcctcttcctcctcctcct 0.719 2 4 --- --- --- --- ZNF880 400713 broad.mit.edu 37 19 52877717 52877717 + Frame_Shift_Del DEL T T - rs77187934 TCGA-HI-7169-01A-11D-2114-08 TCGA-HI-7169-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx e1fc4226-40ce-43b7-b92e-aa7cecd0cf4d 263e1015-1061-4ad2-8f7e-ed430d2d9e80 g.chr19:52877717delT ENST00000597976.1 + 3 325 c.305delT c.(304-306)atfs p.I102fs ZNF880_ENST00000422689.2_Intron|ZNF880_ENST00000344085.5_Intron|ZNF880_ENST00000600321.1_Intron|ZNF880_ENST00000424032.2_Intron Q6PDB4 ZN880_HUMAN zinc finger protein 880 0 regulation of transcription, DNA-dependent intracellular nucleic acid binding|zinc ion binding breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(2)|skin(1) 10 GGCCCCATAAttttttttttt 0.473 2 4 --- --- --- ---