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 DNAJB8 165721 broad.mit.edu 37 3 128182004 128182004 + Missense_Mutation SNP G G A TCGA-J4-A67M-01A-11D-A30E-08 TCGA-J4-A67M-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx da36622f-b6d4-427f-b233-ed97fc76abc5 085bf8ec-1841-4a4b-81c2-3ea1da79c1ed g.chr3:128182004G>A ENST00000469083.1 - 2 2642 c.85C>T c.(85-87)Cgt>Tgt p.R29C DNAJB8_ENST00000319153.3_Missense_Mutation_p.R29C Q8NHS0 DNJB8_HUMAN DnaJ (Hsp40) homolog, subfamily B, member 8 29 J. protein folding heat shock protein binding|unfolded protein binding kidney(1)|large_intestine(4)|lung(4)|prostate(1)|skin(1) 11 GBM - Glioblastoma multiforme(114;0.177) GGGTGCCAACGAAGGGCCAGC 0.577000 38 182 0 0 1 0 0 CLEC1A 51267 broad.mit.edu 37 12 10223969 10223969 + Missense_Mutation SNP A A G TCGA-J4-A67M-01A-11D-A30E-08 TCGA-J4-A67M-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx da36622f-b6d4-427f-b233-ed97fc76abc5 085bf8ec-1841-4a4b-81c2-3ea1da79c1ed g.chr12:10223969A>G ENST00000315330.4 - 6 868 c.806T>C c.(805-807)cTc>cCc p.L269P CLEC1A_ENST00000457018.2_Missense_Mutation_p.L236P|CLEC1A_ENST00000420265.2_Missense_Mutation_p.L177P NM_016511.2 NP_057595.2 Q8NC01 CLC1A_HUMAN C-type lectin domain family 1, member A 269 cell surface receptor linked signaling pathway|defense response integral to plasma membrane|intracellular sugar binding|transmembrane receptor activity breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(9)|ovary(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1) 23 GGGGACATGGAGGCTCTCTGG 0.512000 19 120 0 0 1 0 0 SPO11 23626 broad.mit.edu 37 20 55914070 55914070 + Silent SNP G G A TCGA-J4-A67M-01A-11D-A30E-08 TCGA-J4-A67M-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx da36622f-b6d4-427f-b233-ed97fc76abc5 085bf8ec-1841-4a4b-81c2-3ea1da79c1ed g.chr20:55914070G>A ENST00000371263.3 + 10 979 c.870G>A c.(868-870)aaG>aaA p.K290K SPO11_ENST00000371260.4_Silent_p.K248K|SPO11_ENST00000345868.4_Silent_p.K252K NM_012444.2 NP_036576.1 Q9Y5K1 SPO11_HUMAN SPO11 meiotic protein covalently bound to DSB 290 female gamete generation|reciprocal meiotic recombination chromosome|nucleus ATP binding|DNA binding|hydrolase activity autonomic_ganglia(1)|breast(3)|large_intestine(4)|lung(8)|skin(2) 18 Lung NSC(12;0.0066)|all_lung(29;0.0188)|Melanoma(10;0.242) BRCA - Breast invasive adenocarcinoma(4;1.73e-14)|Epithelial(14;9.02e-10)|all cancers(14;9.31e-09) GCATCTATAAGTATGGATCTA 0.274000 Editing and processing nucleases 4 43 0 0 1 0 0 OTOGL 283310 broad.mit.edu 37 12 80707349 80707349 + Missense_Mutation SNP G G A TCGA-J4-A67M-01A-11D-A30E-08 TCGA-J4-A67M-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx da36622f-b6d4-427f-b233-ed97fc76abc5 085bf8ec-1841-4a4b-81c2-3ea1da79c1ed g.chr12:80707349G>A ENST00000458043.2 + 30 3523 c.3517G>A c.(3517-3519)Gca>Aca p.A1173T OTOGL_ENST00000547103.1_Missense_Mutation_p.A1173T NM_173591.3 NP_775862.3 otogelin-like breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1) 23 TAGTATAGCTGCATATGCATA 0.368000 4 79 0 0 1 0 0 SGIP1 84251 broad.mit.edu 37 1 67148041 67148041 + Missense_Mutation SNP G G A TCGA-J4-A67M-01A-11D-A30E-08 TCGA-J4-A67M-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx da36622f-b6d4-427f-b233-ed97fc76abc5 085bf8ec-1841-4a4b-81c2-3ea1da79c1ed g.chr1:67148041G>A ENST00000371037.4 + 15 1381 c.1304G>A c.(1303-1305)gGg>gAg p.G435E SGIP1_ENST00000371035.3_Intron|SGIP1_ENST00000371036.3_Intron|SGIP1_ENST00000371039.1_Intron|SGIP1_ENST00000237247.6_Missense_Mutation_p.G439E NM_032291.2 NP_115667.2 Q9BQI5 SGIP1_HUMAN SH3-domain GRB2-like (endophilin) interacting protein 1 435 Pro-rich. positive regulation of energy homeostasis|positive regulation of feeding behavior|positive regulation of receptor-mediated endocytosis|response to dietary excess AP-2 adaptor complex microtubule binding|phospholipid binding|SH3 domain binding breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(43)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1) 71 CCTGGTCCGGGGACCACCAGT 0.607000 53 271 0 0 1 0 0 ABCB1 5243 broad.mit.edu 37 7 87165839 87165839 + Missense_Mutation SNP C C T TCGA-J4-A67M-01A-11D-A30E-08 TCGA-J4-A67M-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx da36622f-b6d4-427f-b233-ed97fc76abc5 085bf8ec-1841-4a4b-81c2-3ea1da79c1ed g.chr7:87165839C>T ENST00000265724.3 - 21 2833 c.2416G>A c.(2416-2418)Gac>Aac p.D806N ABCB1_ENST00000543898.1_Missense_Mutation_p.D742N NM_000927.4 NP_000918.2 P08183 MDR1_HUMAN ATP-binding cassette, sub-family B (MDR/TAP), member 1 806 ABC transmembrane type-1 2. G2/M transition of mitotic cell cycle|stem cell proliferation apical plasma membrane|cell surface|Golgi membrane|integral to membrane|intercellular canaliculus|membrane fraction ATP binding|protein binding|xenobiotic-transporting ATPase activity NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1) 111 Esophageal squamous(14;0.00164) Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570) TTTTTAGGGTCATCAAACCAA 0.453000 10 46 0 0 1 0 0 SLCO6A1 133482 broad.mit.edu 37 5 101795412 101795412 + Silent SNP G G A TCGA-J4-A67M-01A-11D-A30E-08 TCGA-J4-A67M-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx da36622f-b6d4-427f-b233-ed97fc76abc5 085bf8ec-1841-4a4b-81c2-3ea1da79c1ed g.chr5:101795412G>A ENST00000506729.1 - 5 1140 c.969C>T c.(967-969)gtC>gtT p.V323V SLCO6A1_ENST00000514551.1_5'UTR|SLCO6A1_ENST00000389019.3_Silent_p.V261V|SLCO6A1_ENST00000379810.1_Intron|SLCO6A1_ENST00000379807.3_Silent_p.V323V|SLCO6A1_ENST00000513675.1_Intron Q86UG4 SO6A1_HUMAN solute carrier organic anion transporter family, member 6A1 323 integral to membrane|plasma membrane transporter activity breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(17)|lung(22)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 60 all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323) Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113) ACCATGCAACGACAGCGGCAA 0.338000 12 53 0 0 1 0 0 BAGE2 85319 broad.mit.edu 37 21 11038954 11038954 + RNA SNP T T C TCGA-J4-A67M-01A-11D-A30E-08 TCGA-J4-A67M-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx da36622f-b6d4-427f-b233-ed97fc76abc5 085bf8ec-1841-4a4b-81c2-3ea1da79c1ed g.chr21:11038954T>C ENST00000470054.1 - 0 1249 B melanoma antigen family, member 2 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) ATAATGAAAATGATGACTCTG 0.423000 19 564 0 0 1 0 0 NDUFA10 4705 broad.mit.edu 37 2 240961655 240961655 + Missense_Mutation SNP T T C TCGA-J4-A67M-01A-11D-A30E-08 TCGA-J4-A67M-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx da36622f-b6d4-427f-b233-ed97fc76abc5 085bf8ec-1841-4a4b-81c2-3ea1da79c1ed g.chr2:240961655T>C ENST00000252711.2 - 2 278 c.178A>G c.(178-180)Ata>Gta p.I60V NDUFA10_ENST00000307300.4_Missense_Mutation_p.I60V|NDUFA10_ENST00000407129.3_Missense_Mutation_p.I60V|NDUFA10_ENST00000404554.1_Missense_Mutation_p.I60V NM_004544.3 NP_004535.1 O95299 NDUAA_HUMAN NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 10, 42kDa 60 mitochondrial electron transport, NADH to ubiquinone|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|transport mitochondrial matrix|mitochondrial respiratory chain complex I ATP binding|NADH dehydrogenase (ubiquinone) activity|phosphotransferase activity, alcohol group as acceptor central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8) 16 all_epithelial(40;4.26e-15)|Breast(86;4.4e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0396)|Lung NSC(271;0.128)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244) Epithelial(121;7.82e-28)|OV - Ovarian serous cystadenocarcinoma(60;1.5e-13)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;2.39e-05)|Lung(119;0.00519)|LUSC - Lung squamous cell carcinoma(224;0.0202) NADH(DB00157) TCTACAGTTATCACTCTGCTG 0.393000 13 62 0 0 1 0 0 ALPPL2 251 broad.mit.edu 37 2 233271853 233271853 + Missense_Mutation SNP G G A TCGA-J4-A67M-01A-11D-A30E-08 TCGA-J4-A67M-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx da36622f-b6d4-427f-b233-ed97fc76abc5 085bf8ec-1841-4a4b-81c2-3ea1da79c1ed g.chr2:233271853G>A ENST00000295453.3 + 2 206 c.154G>A c.(154-156)Gcc>Acc p.A52T NM_031313.2 NP_112603.2 P10696 PPBN_HUMAN alkaline phosphatase, placental-like 2 52 phosphorylation anchored to membrane|plasma membrane alkaline phosphatase activity|metal ion binding breast(2)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|skin(1) 13 all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132) Epithelial(121;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196) Amifostine(DB01143)|Levamisole(DB00848) ACAGACAGCCGCCAAGAACCT 0.677000 18 199 0 0 1 0 0 SAA2 6289 broad.mit.edu 37 11 18267020 18267020 + Silent SNP C C T TCGA-J4-A67M-01A-11D-A30E-08 TCGA-J4-A67M-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx da36622f-b6d4-427f-b233-ed97fc76abc5 085bf8ec-1841-4a4b-81c2-3ea1da79c1ed g.chr11:18267020C>T ENST00000526900.1 - 4 456 c.273G>A c.(271-273)gcG>gcA p.A91A SAA2_ENST00000530400.1_Intron|SAA2_ENST00000529528.1_Silent_p.A91A|SAA2_ENST00000528349.1_Intron|SAA2_ENST00000256733.4_Silent_p.A91A|SAA2-SAA4_ENST00000524555.1_RNA|SAA2_ENST00000414546.2_Intron serum amyloid A2 central_nervous_system(1)|large_intestine(2)|lung(2)|prostate(1) 6 GCGAGTCCTCCGCACCACGGC 0.557000 20 81 0 0 1 0 0 ANKRD36C 400986 broad.mit.edu 37 2 96593016 96593016 + Missense_Mutation SNP C C A rs79307257 by1000genomes TCGA-J4-A67M-01A-11D-A30E-08 TCGA-J4-A67M-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx da36622f-b6d4-427f-b233-ed97fc76abc5 085bf8ec-1841-4a4b-81c2-3ea1da79c1ed g.chr2:96593016C>A ENST00000456556.1 - 28 1969 c.1885G>T c.(1885-1887)Gat>Tat p.D629Y ankyrin repeat domain 36C p.D629Y(1) breast(1)|endometrium(8)|kidney(5)|lung(4) 18 GAAACAGAATCTTTCTCATCA 0.318000 5 76 0.000602214 0.000611479 1 1 0 ZNF721 170960 broad.mit.edu 37 4 435941 435941 + Missense_Mutation SNP T T A TCGA-J4-A67M-01A-11D-A30E-08 TCGA-J4-A67M-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx da36622f-b6d4-427f-b233-ed97fc76abc5 085bf8ec-1841-4a4b-81c2-3ea1da79c1ed g.chr4:435941T>A ENST00000338977.5 - 2 2327 c.2279A>T c.(2278-2280)gAg>gTg p.E760V ZNF721_ENST00000511833.2_Missense_Mutation_p.E772V|ABCA11P_ENST00000451020.2_RNA|ZNF721_ENST00000506646.1_Intron|ZNF721_ENST00000507078.1_Intron zinc finger protein 721 endometrium(2)|kidney(2)|large_intestine(15)|lung(6)|ovary(1)|skin(1)|stomach(5)|urinary_tract(1) 33 ATGAATTTTCTCATGTCTATT 0.353000 6 24 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179476111 179476111 + Missense_Mutation SNP T T C TCGA-J4-A67M-01A-11D-A30E-08 TCGA-J4-A67M-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx da36622f-b6d4-427f-b233-ed97fc76abc5 085bf8ec-1841-4a4b-81c2-3ea1da79c1ed g.chr2:179476111T>C ENST00000589042.1 - 269 51069 c.50845A>G c.(50845-50847)Aaa>Gaa p.K16949E TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.K7884E|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.K8076E|TTN_ENST00000342992.6_Missense_Mutation_p.K14381E|TTN_ENST00000591111.1_Missense_Mutation_p.K15308E|TTN_ENST00000359218.5_Missense_Mutation_p.K8009E|TTN-AS1_ENST00000456053.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 15308 Fibronectin type-III 23. 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) TCTGGGTCTTTGGCAACCACA 0.383000 4 68 0 0 1 0 0 HMGCR 3156 broad.mit.edu 37 5 74641424 74641424 + Silent SNP T T C TCGA-J4-A67M-01A-11D-A30E-08 TCGA-J4-A67M-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx da36622f-b6d4-427f-b233-ed97fc76abc5 085bf8ec-1841-4a4b-81c2-3ea1da79c1ed g.chr5:74641424T>C ENST00000287936.4 + 5 547 c.391T>C c.(391-393)Ttg>Ctg p.L131L HMGCR_ENST00000343975.5_Silent_p.L131L|HMGCR_ENST00000511206.1_Silent_p.L131L NM_000859.2 NP_000850.1 P04035 HMDH_HUMAN 3-hydroxy-3-methylglutaryl-CoA reductase 131 cholesterol biosynthetic process|coenzyme A metabolic process|germ cell migration|gonad development|isoprenoid biosynthetic process endoplasmic reticulum membrane|integral to membrane|peroxisomal membrane hydroxymethylglutaryl-CoA reductase (NADPH) activity|NADP binding breast(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1) 20 all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Prostate(461;0.174) OV - Ovarian serous cystadenocarcinoma(47;2.24e-54) Atorvastatin(DB01076)|Bezafibrate(DB01393)|Cerivastatin(DB00439)|Fluvastatin(DB01095)|Lovastatin(DB00227)|NADH(DB00157)|Pravastatin(DB00175)|Rosuvastatin(DB01098)|Simvastatin(DB00641) TTTCCTACTTTTGATTGACCT 0.318000 8 60 0 0 1 0 0 CTNNAL1 8727 broad.mit.edu 37 9 111745457 111745457 + Missense_Mutation SNP T T C TCGA-J4-A67M-01A-11D-A30E-08 TCGA-J4-A67M-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx da36622f-b6d4-427f-b233-ed97fc76abc5 085bf8ec-1841-4a4b-81c2-3ea1da79c1ed g.chr9:111745457T>C ENST00000374595.4 - 6 947 c.868A>G c.(868-870)Atc>Gtc p.I290V CTNNAL1_ENST00000325580.6_Missense_Mutation_p.I290V|CTNNAL1_ENST00000325551.4_Missense_Mutation_p.I290V Q9UBT7 CTNL1_HUMAN catenin (cadherin-associated protein), alpha-like 1 290 cell adhesion|Rho protein signal transduction actin cytoskeleton|cytosol|plasma membrane cadherin binding|structural molecule activity cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(4)|urinary_tract(2) 25 STAD - Stomach adenocarcinoma(157;0.0768) AAAATACTGATAGATGAAATG 0.279000 5 46 0 0 1 0 0 FAN1 22909 broad.mit.edu 37 15 31229359 31229359 + Missense_Mutation SNP A A G TCGA-J4-A67M-01A-11D-A30E-08 TCGA-J4-A67M-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx da36622f-b6d4-427f-b233-ed97fc76abc5 085bf8ec-1841-4a4b-81c2-3ea1da79c1ed g.chr15:31229359A>G ENST00000362065.4 + 14 3245 c.2954A>G c.(2953-2955)cAt>cGt p.H985R NM_014967.4 NP_055782.3 Q9Y2M0 FAN1_HUMAN FANCD2/FANCI-associated nuclease 1 985 VRR-NUC. double-strand break repair via homologous recombination|nucleotide-excision repair, DNA incision nucleus 5'-3' exonuclease activity|5'-flap endonuclease activity|DNA binding|magnesium ion binding|phosphodiesterase I activity|ubiquitin binding autonomic_ganglia(2)|breast(2)|cervix(2)|endometrium(7)|kidney(1)|large_intestine(6)|lung(8)|skin(1) 29 CGTCTTTCACATAAGCAGATG 0.423000 Direct reversal of damage 14 102 0 0 1 0 0 EP300 2033 broad.mit.edu 37 22 41573205 41573205 + Missense_Mutation SNP G G T TCGA-J4-A67M-01A-11D-A30E-08 TCGA-J4-A67M-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx da36622f-b6d4-427f-b233-ed97fc76abc5 085bf8ec-1841-4a4b-81c2-3ea1da79c1ed g.chr22:41573205G>T ENST00000263253.7 + 31 6709 c.5490G>T c.(5488-5490)agG>agT p.R1830S RP1-85F18.5_ENST00000420537.1_RNA|RP1-85F18.6_ENST00000415054.1_RNA NM_001429.3 NP_001420.2 Q09472 EP300_HUMAN E1A binding protein p300 1830 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 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 TGCTTCGCAGGAGGATGGCCA 0.602000 """T, N, F, Mis, O""" """MLL, RUNXBP2""" """colorectal, breast, pancreatic, AML, ALL, DLBCL""" Rubinstein-Taybi syndrome 13 93 5.50884e-06 5.77116e-06 1 1 0 CXCR2P1 0 broad.mit.edu 37 2 218925389 218925389 + RNA SNP G G T TCGA-J4-A67M-01A-11D-A30E-08 TCGA-J4-A67M-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx da36622f-b6d4-427f-b233-ed97fc76abc5 085bf8ec-1841-4a4b-81c2-3ea1da79c1ed g.chr2:218925389G>T ENST00000439871.1 - 0 991 NR_002712.1 CAGCAAAGATGACCCACATGG 0.547000 17 67 1.5739e-10 1.67544e-10 1 1 0 FMNL1 752 broad.mit.edu 37 17 43311099 43311099 + Splice_Site SNP G G A TCGA-J4-A67M-01A-11D-A30E-08 TCGA-J4-A67M-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx da36622f-b6d4-427f-b233-ed97fc76abc5 085bf8ec-1841-4a4b-81c2-3ea1da79c1ed g.chr17:43311099G>A ENST00000331495.3 + 5 821 c.e5+1 FMNL1_ENST00000328118.3_Splice_Site|FMNL1_ENST00000592006.1_Splice_Site NM_005892.3 NP_005883.2 O95466 FMNL_HUMAN formin-like 1 actin cytoskeleton organization actin binding|Rho GTPase binding biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(12)|pancreas(1)|skin(1)|urinary_tract(2) 33 GCTCTGTCACGTAAGCCCCCT 0.622000 6 68 0 0 1 0 0 DNAH10 196385 broad.mit.edu 37 12 124403289 124403289 + Missense_Mutation SNP C C T TCGA-J4-A67M-01A-11D-A30E-08 TCGA-J4-A67M-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx da36622f-b6d4-427f-b233-ed97fc76abc5 085bf8ec-1841-4a4b-81c2-3ea1da79c1ed g.chr12:124403289C>T ENST00000409039.3 + 64 10970 c.10945C>T c.(10945-10947)Cgg>Tgg p.R3649W NM_207437.3 NP_997320.2 Q8IVF4 DYH10_HUMAN dynein, axonemal, heavy chain 10 3649 microtubule-based movement cilium axoneme|cytoplasm|dynein complex|microtubule ATP binding|ATPase activity|microtubule motor activity breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 52 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346) GGATGGCTACCGGCCAGCAGC 0.567000 5 36 0 0 1 0 0 ZAN 7455 broad.mit.edu 37 7 100350361 100350361 + RNA SNP T T C TCGA-J4-A67M-01A-11D-A30E-08 TCGA-J4-A67M-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx da36622f-b6d4-427f-b233-ed97fc76abc5 085bf8ec-1841-4a4b-81c2-3ea1da79c1ed g.chr7:100350361T>C ENST00000542585.1 + 0 2781 ZAN_ENST00000421100.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000349350.6_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) ACGGAAAAACTCACCATCCCC 0.502000 6 229 0 0 1 0 0 UNC5B 219699 broad.mit.edu 37 10 73053281 73053281 + Missense_Mutation SNP G G A rs142079000 TCGA-J4-A67M-01A-11D-A30E-08 TCGA-J4-A67M-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx da36622f-b6d4-427f-b233-ed97fc76abc5 085bf8ec-1841-4a4b-81c2-3ea1da79c1ed g.chr10:73053281G>A ENST00000335350.6 + 12 2308 c.1892G>A c.(1891-1893)cGt>cAt p.R631H UNC5B_ENST00000373192.4_Missense_Mutation_p.R620H NM_170744.4 NP_734465.2 Q8IZJ1 UNC5B_HUMAN unc-5 homolog B (C. elegans) 631 ZU5. apoptosis|axon guidance|regulation of apoptosis integral to membrane breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(4)|skin(4) 49 GTCAGTGCCCGTGACTGGATC 0.652000 20 183 0 0 1 0 0 DNM1P47 0 broad.mit.edu 37 15 102304869 102304869 + RNA SNP T T C rs139457262 by1000genomes TCGA-J4-A67M-01A-11D-A30E-08 TCGA-J4-A67M-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx da36622f-b6d4-427f-b233-ed97fc76abc5 085bf8ec-1841-4a4b-81c2-3ea1da79c1ed g.chr15:102304869T>C ENST00000561463.1 + 0 12915 GTCCAACCTGTACTCGCGTGG 0.572000 3 20 0 0 1 0 0 EPB41L3 23136 broad.mit.edu 37 18 5406823 5406823 + Missense_Mutation SNP C C T TCGA-J4-A67M-01A-11D-A30E-08 TCGA-J4-A67M-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx da36622f-b6d4-427f-b233-ed97fc76abc5 085bf8ec-1841-4a4b-81c2-3ea1da79c1ed g.chr18:5406823C>T ENST00000341928.2 - 16 2642 c.2302G>A c.(2302-2304)Gcc>Acc p.A768T EPB41L3_ENST00000544123.1_Missense_Mutation_p.A599T|EPB41L3_ENST00000542652.2_5'UTR|EPB41L3_ENST00000427684.2_Missense_Mutation_p.A40T|EPB41L3_ENST00000342933.3_Missense_Mutation_p.A768T|EPB41L3_ENST00000542146.1_Missense_Mutation_p.A40T|EPB41L3_ENST00000540638.2_Missense_Mutation_p.A587T|EPB41L3_ENST00000400111.3_Missense_Mutation_p.A587T NM_012307.2 NP_036439.2 Q9Y2J2 E41L3_HUMAN erythrocyte membrane protein band 4.1-like 3 768 Spectrin--actin-binding (Potential). cortical actin cytoskeleton organization cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane actin binding|structural molecule activity p.A768S(1) breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 105 TCCTGCCTGGCGGCCAGTCGC 0.532000 11 87 0 0 1 0 0 EMILIN2 84034 broad.mit.edu 37 18 2890715 2890715 + Missense_Mutation SNP C C T rs79649705 by1000genomes TCGA-J4-A67M-01A-11D-A30E-08 TCGA-J4-A67M-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx da36622f-b6d4-427f-b233-ed97fc76abc5 085bf8ec-1841-4a4b-81c2-3ea1da79c1ed g.chr18:2890715C>T ENST00000254528.3 + 4 749 c.590C>T c.(589-591)aCg>aTg p.T197M NM_032048.2 NP_114437.2 Q9BXX0 EMIL2_HUMAN elastin microfibril interfacer 2 197 cell adhesion collagen extracellular matrix constituent conferring elasticity|protein binding breast(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(4) 48 READ - Rectum adenocarcinoma(2;0.1) CTCACAAGGACGGTTCTTGAC 0.527000 13 123 0 0 1 0 0 ZEB2 9839 broad.mit.edu 37 2 145162525 145162525 + Missense_Mutation SNP T T C TCGA-J4-A67M-01A-11D-A30E-08 TCGA-J4-A67M-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx da36622f-b6d4-427f-b233-ed97fc76abc5 085bf8ec-1841-4a4b-81c2-3ea1da79c1ed g.chr2:145162525T>C ENST00000558170.2 - 5 1654 c.470A>G c.(469-471)gAt>gGt p.D157G ZEB2_ENST00000539609.3_Missense_Mutation_p.D133G|ZEB2_ENST00000409487.3_Missense_Mutation_p.D157G|ZEB2_ENST00000303660.4_Missense_Mutation_p.D157G NM_014795.3 NP_055610.1 O60315 ZEB2_HUMAN zinc finger E-box binding homeobox 2 157 cytoplasm|nucleolus phosphatase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|SMAD binding|zinc ion binding breast(3)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(6)|large_intestine(23)|lung(45)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3) 107 BRCA - Breast invasive adenocarcinoma(221;0.112) TGCATGACCATCGCGTTCCTC 0.468000 10 42 0 0 1 0 0 LPHN3 23284 broad.mit.edu 37 4 62903476 62903476 + Nonsense_Mutation SNP C C T TCGA-J4-A67M-01A-11D-A30E-08 TCGA-J4-A67M-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx da36622f-b6d4-427f-b233-ed97fc76abc5 085bf8ec-1841-4a4b-81c2-3ea1da79c1ed g.chr4:62903476C>T ENST00000512091.1 + 23 4162 c.3415C>T c.(3415-3417)Cga>Tga p.R1139* LPHN3_ENST00000507164.1_Nonsense_Mutation_p.R1198*|LPHN3_ENST00000514157.1_Nonsense_Mutation_p.R1130*|LPHN3_ENST00000511324.1_Nonsense_Mutation_p.R1198*|LPHN3_ENST00000504896.1_Nonsense_Mutation_p.R1139*|LPHN3_ENST00000545650.1_Nonsense_Mutation_p.R1139*|LPHN3_ENST00000506700.1_Nonsense_Mutation_p.R1130*|LPHN3_ENST00000506720.1_Nonsense_Mutation_p.R1207*|LPHN3_ENST00000506746.1_Nonsense_Mutation_p.R1198*|LPHN3_ENST00000509896.1_Nonsense_Mutation_p.R1207*|LPHN3_ENST00000508946.1_Nonsense_Mutation_p.R1139*|LPHN3_ENST00000508693.1_Nonsense_Mutation_p.R1207*|LPHN3_ENST00000514996.1_Nonsense_Mutation_p.R1130*|LPHN3_ENST00000507625.1_Nonsense_Mutation_p.R1198*|LPHN3_ENST00000514591.1_Nonsense_Mutation_p.R1139* Q9HAR2 LPHN3_HUMAN latrophilin 3 1117 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity|sugar binding breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1) 125 GAAATGCCTGCGAACACATTG 0.423000 7 84 0 0 1 0 0 FAM96A 84191 broad.mit.edu 37 15 64365169 64365169 + Silent SNP T T C TCGA-J4-A67M-01A-11D-A30E-08 TCGA-J4-A67M-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx da36622f-b6d4-427f-b233-ed97fc76abc5 085bf8ec-1841-4a4b-81c2-3ea1da79c1ed g.chr15:64365169T>C ENST00000300030.3 - 5 693 c.444A>G c.(442-444)ttA>ttG p.L148L FAM96A_ENST00000380290.3_3'UTR|FAM96A_ENST00000558779.1_5'UTR NM_032231.4 NP_115607.1 Q9H5X1 FA96A_HUMAN family with sequence similarity 96, member A 148 chromosome segregation p.L148F(1) kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(1)|urinary_tract(1) 9 CAATTTCCCGTAAGTTGGGGT 0.388000 17 97 0 0 1 0 0 GRIA1 0 broad.mit.edu 37 5 153144022 153144022 + Missense_Mutation SNP G G A TCGA-J4-A67M-01A-11D-A30E-08 TCGA-J4-A67M-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx da36622f-b6d4-427f-b233-ed97fc76abc5 085bf8ec-1841-4a4b-81c2-3ea1da79c1ed g.chr5:153144022G>A ENST00000285900.5 + 12 2195 c.1852G>A c.(1852-1854)Gtc>Atc p.V618I GRIA1_ENST00000521843.2_Missense_Mutation_p.V549I|GRIA1_ENST00000340592.5_Missense_Mutation_p.V618I|GRIA1_ENST00000518142.1_Missense_Mutation_p.V538I|GRIA1_ENST00000448073.4_Missense_Mutation_p.V628I|GRIA1_ENST00000518783.1_Missense_Mutation_p.V628I NM_000827.3|NM_001258019.1 NP_000818.2|NP_001244948.1 P42261 GRIA1_HUMAN glutamate receptor, ionotropic, AMPA 1 618 synaptic transmission alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity|PDZ domain binding p.V618I(1) NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2) 81 Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21) Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785) Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236) CGTTGGTGGCGTCTGGTGGTT 0.552000 21 57 0 0 1 0 0 RUFY4 285180 broad.mit.edu 37 2 218940309 218940309 + Missense_Mutation SNP C C T TCGA-J4-A67M-01A-11D-A30E-08 TCGA-J4-A67M-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx da36622f-b6d4-427f-b233-ed97fc76abc5 085bf8ec-1841-4a4b-81c2-3ea1da79c1ed g.chr2:218940309C>T ENST00000374155.3 + 8 1564 c.1154C>T c.(1153-1155)tCg>tTg p.S385L RUFY4_ENST00000441828.2_3'UTR|RUFY4_ENST00000344321.7_Missense_Mutation_p.S365L|RUFY4_ENST00000463872.1_3'UTR Q6ZNE9 RUFY4_HUMAN RUN and FYVE domain containing 4 365 metal ion binding endometrium(2)|kidney(2)|large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(1) 10 Renal(207;0.0915) Epithelial(149;4.11e-06)|all cancers(144;0.000519)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948) AGGCAGGGGTCGGGGGGCTCT 0.592000 7 40 0 0 1 0 0 C2orf48 348738 broad.mit.edu 37 2 10350627 10350627 + Silent SNP G G A TCGA-J4-A67M-01A-11D-A30E-08 TCGA-J4-A67M-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx da36622f-b6d4-427f-b233-ed97fc76abc5 085bf8ec-1841-4a4b-81c2-3ea1da79c1ed g.chr2:10350627G>A ENST00000381786.3 + 4 673 c.384G>A c.(382-384)gcG>gcA p.A128A NM_182626.2 NP_872432.1 Q96LS8 CB048_HUMAN chromosome 2 open reading frame 48 128 endometrium(1)|lung(7) 8 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) Epithelial(75;0.188) CACAGAGGGCGCTGGGCTCCA 0.582000 4 146 0 0 1 0 0 NCAM2 4685 broad.mit.edu 37 21 22804447 22804447 + Nonsense_Mutation SNP T T A TCGA-J4-A67M-01A-11D-A30E-08 TCGA-J4-A67M-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx da36622f-b6d4-427f-b233-ed97fc76abc5 085bf8ec-1841-4a4b-81c2-3ea1da79c1ed g.chr21:22804447T>A ENST00000400546.1 + 12 1749 c.1500T>A c.(1498-1500)taT>taA p.Y500* NCAM2_ENST00000284894.7_Nonsense_Mutation_p.Y358* NM_004540.3 NP_004531.2 O15394 NCAM2_HUMAN neural cell adhesion molecule 2 500 Fibronectin type-III 1. neuron cell-cell adhesion integral to membrane|plasma membrane breast(4)|cervix(2)|endometrium(8)|kidney(6)|large_intestine(22)|liver(4)|lung(49)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 108 Lung NSC(9;0.195) all cancers(11;0.00102)|OV - Ovarian serous cystadenocarcinoma(11;0.00121)|Epithelial(23;0.00147)|Colorectal(24;0.174) CCAGTCCCTATGGAGTGAAGA 0.448000 11 58 0 0 1 0 0 MMP16 4325 broad.mit.edu 37 8 89068388 89068388 + Silent SNP G G A TCGA-J4-A67M-01A-11D-A30E-08 TCGA-J4-A67M-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx da36622f-b6d4-427f-b233-ed97fc76abc5 085bf8ec-1841-4a4b-81c2-3ea1da79c1ed g.chr8:89068388G>A ENST00000286614.6 - 8 1622 c.1341C>T c.(1339-1341)gaC>gaT p.D447D NM_005941.4 NP_005932.2 P51512 MMP16_HUMAN matrix metallopeptidase 16 (membrane-inserted) 447 Hemopexin-like 3. collagen catabolic process|proteolysis cell surface|integral to plasma membrane|proteinaceous extracellular matrix calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(51)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(3) 81 TTTTCCCGACGTCCTCCCACC 0.413000 27 66 0 0 1 0 0 SYNJ1 8867 broad.mit.edu 37 21 34058198 34058198 + Silent SNP A A G TCGA-J4-A67M-01A-11D-A30E-08 TCGA-J4-A67M-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx da36622f-b6d4-427f-b233-ed97fc76abc5 085bf8ec-1841-4a4b-81c2-3ea1da79c1ed g.chr21:34058198A>G ENST00000382499.2 - 9 1094 c.1095T>C c.(1093-1095)gcT>gcC p.A365A SYNJ1_ENST00000322229.7_Silent_p.A326A|SYNJ1_ENST00000382491.3_Silent_p.A326A|SYNJ1_ENST00000433931.2_Silent_p.A365A|SYNJ1_ENST00000357345.3_Silent_p.A326A NM_203446.2 NP_982271.2 O43426 SYNJ1_HUMAN synaptojanin 1 326 SAC. inositol-polyphosphate 5-phosphatase activity|nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|lung(11)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2) 57 TCTGGATATCAGCAGCATGTT 0.333000 14 49 0 0 1 0 0 UPF2 26019 broad.mit.edu 37 10 12046639 12046639 + Missense_Mutation SNP C C T TCGA-J4-A67M-01A-11D-A30E-08 TCGA-J4-A67M-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx da36622f-b6d4-427f-b233-ed97fc76abc5 085bf8ec-1841-4a4b-81c2-3ea1da79c1ed g.chr10:12046639C>T ENST00000356352.2 - 4 1867 c.1394G>A c.(1393-1395)cGg>cAg p.R465Q UPF2_ENST00000357604.5_Missense_Mutation_p.R465Q|UPF2_ENST00000397053.2_Missense_Mutation_p.R465Q Q9HAU5 RENT2_HUMAN UPF2 regulator of nonsense transcripts homolog (yeast) 465 mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay exon-exon junction complex|perinuclear region of cytoplasm identical protein binding|RNA binding breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(14)|lung(17)|ovary(2)|skin(3)|urinary_tract(2) 56 Renal(717;0.228) ATAAAAATTCCGAGCATCTTC 0.363000 8 77 0 0 1 0 0 SNAP29 9342 broad.mit.edu 37 22 21213458 21213458 + Silent SNP C C T TCGA-J4-A67M-01A-11D-A30E-08 TCGA-J4-A67M-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx da36622f-b6d4-427f-b233-ed97fc76abc5 085bf8ec-1841-4a4b-81c2-3ea1da79c1ed g.chr22:21213458C>T ENST00000215730.6 + 1 188 c.60C>T c.(58-60)gcC>gcT p.A20A NM_004782.3 NP_004773.1 O95721 SNP29_HUMAN synaptosomal-associated protein, 29kDa 20 cellular membrane fusion|exocytosis|protein transport|vesicle targeting cell junction|cytoplasm|nucleus|synapse|synaptosome SNAP receptor activity breast(1)|endometrium(1)|large_intestine(5)|lung(1)|upper_aerodigestive_tract(1) 9 all_cancers(11;2.77e-25)|all_epithelial(7;8.92e-24)|Lung NSC(8;1.49e-15)|all_lung(8;2.54e-14)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142) Lung SC(17;0.0262) LUSC - Lung squamous cell carcinoma(15;0.000592)|Lung(15;0.0117) ACGAAGGCGCCCGGCCGGCCC 0.692000 7 37 0 0 1 0 0 ANKRD36C 400986 broad.mit.edu 37 2 96593000 96593000 + Missense_Mutation SNP A A G rs111976783 TCGA-J4-A67M-01A-11D-A30E-08 TCGA-J4-A67M-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx da36622f-b6d4-427f-b233-ed97fc76abc5 085bf8ec-1841-4a4b-81c2-3ea1da79c1ed g.chr2:96593000A>G ENST00000456556.1 - 28 1985 c.1901T>C c.(1900-1902)aTa>aCa p.I634T ankyrin repeat domain 36C p.I634T(1) breast(1)|endometrium(8)|kidney(5)|lung(4) 18 TTCTGTGGCTATATTTGAAAC 0.338000 5 76 0 0 1 0 0 PDIA4 9601 broad.mit.edu 37 7 148701024 148701024 + Silent SNP G G A TCGA-J4-A67M-01A-11D-A30E-08 TCGA-J4-A67M-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx da36622f-b6d4-427f-b233-ed97fc76abc5 085bf8ec-1841-4a4b-81c2-3ea1da79c1ed g.chr7:148701024G>A ENST00000286091.4 - 10 2032 c.1800C>T c.(1798-1800)ttC>ttT p.F600F NM_004911.4 NP_004902.1 P13667 PDIA4_HUMAN protein disulfide isomerase family A, member 4 600 Thioredoxin 3. cell redox homeostasis|glycerol ether metabolic process|protein secretion endoplasmic reticulum lumen|melanosome electron carrier activity|protein binding|protein disulfide isomerase activity|protein disulfide oxidoreductase activity large_intestine(6)|lung(15)|ovary(2)|prostate(1) 24 Melanoma(164;0.15) OV - Ovarian serous cystadenocarcinoma(82;0.00385) AGATGGTGGGGAAGCCCTCCA 0.542000 8 80 0 0 1 0 0 DHX57 90957 broad.mit.edu 37 2 39053764 39053764 + Missense_Mutation SNP G G A TCGA-J4-A67M-01A-11D-A30E-08 TCGA-J4-A67M-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx da36622f-b6d4-427f-b233-ed97fc76abc5 085bf8ec-1841-4a4b-81c2-3ea1da79c1ed g.chr2:39053764G>A ENST00000295373.6 - 15 2833 c.2707C>T c.(2707-2709)Cct>Tct p.P903S NM_198963.1 NP_945314.1 Q6P158 DHX57_HUMAN DEAH (Asp-Glu-Ala-Asp/His) box polypeptide 57 903 Helicase C-terminal. ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding|zinc ion binding NS(2)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(20)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 62 all_hematologic(82;0.248) ACTCCTGCAGGAGGTTTTACA 0.378000 13 37 0 0 1 0 0 OR10J5 127385 broad.mit.edu 37 1 159505651 159505651 + Silent SNP G G A TCGA-J4-A67M-01A-11D-A30E-08 TCGA-J4-A67M-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx da36622f-b6d4-427f-b233-ed97fc76abc5 085bf8ec-1841-4a4b-81c2-3ea1da79c1ed g.chr1:159505651G>A ENST00000334857.2 - 1 191 c.147C>T c.(145-147)atC>atT p.I49I NM_001004469.1 NP_001004469.1 Q8NHC4 O10J5_HUMAN olfactory receptor, family 10, subfamily J, member 5 49 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 22 all_hematologic(112;0.0429) GGTCAATGCAGATGATAGTCA 0.418000 27 114 0 0 1 0 0 UNC79 57578 broad.mit.edu 37 14 94004514 94004514 + Silent SNP G G A TCGA-J4-A67M-01A-11D-A30E-08 TCGA-J4-A67M-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx da36622f-b6d4-427f-b233-ed97fc76abc5 085bf8ec-1841-4a4b-81c2-3ea1da79c1ed g.chr14:94004514G>A ENST00000553484.1 + 12 1456 c.1302G>A c.(1300-1302)acG>acA p.T434T UNC79_ENST00000393151.2_Silent_p.T434T|UNC79_ENST00000555664.1_Silent_p.T434T|UNC79_ENST00000256339.4_Silent_p.T257T Q9P2D8 UNC79_HUMAN unc-79 homolog (C. elegans) 434 integral to membrane breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4) 118 CCATCAACACGCGGGAATGCG 0.567000 6 30 0 0 1 0 0 WDR59 79726 broad.mit.edu 37 16 74955991 74955991 + Missense_Mutation SNP T T C TCGA-J4-A67M-01A-11D-A30E-08 TCGA-J4-A67M-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx da36622f-b6d4-427f-b233-ed97fc76abc5 085bf8ec-1841-4a4b-81c2-3ea1da79c1ed g.chr16:74955991T>C ENST00000262144.6 - 10 870 c.740A>G c.(739-741)aAt>aGt p.N247S NM_030581.3 NP_085058.3 Q6PJI9 WDR59_HUMAN WD repeat domain 59 247 breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|ovary(1)|prostate(1) 27 CACCAATCCATTGCTGAAAGG 0.493000 4 98 0 0 1 0 0 HCN1 348980 broad.mit.edu 37 5 45262467 45262467 + Silent SNP C C T rs143994644 by1000genomes TCGA-J4-A67M-01A-11D-A30E-08 TCGA-J4-A67M-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx da36622f-b6d4-427f-b233-ed97fc76abc5 085bf8ec-1841-4a4b-81c2-3ea1da79c1ed g.chr5:45262467C>T ENST00000303230.4 - 8 2286 c.2229G>A c.(2227-2229)ccG>ccA p.P743P NM_021072.3 NP_066550.2 O60741 HCN1_HUMAN hyperpolarization activated cyclic nucleotide-gated potassium channel 1 743 Gln-rich. integral to membrane cAMP binding|sodium channel activity|voltage-gated potassium channel activity p.P743P(1) NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5) 156 gagtctgcggcggctgggact 0.637000 9 66 0 0 1 0 0 SYNE1 23345 broad.mit.edu 37 6 152776617 152776617 + Missense_Mutation SNP C C A TCGA-J4-A67M-01A-11D-A30E-08 TCGA-J4-A67M-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx da36622f-b6d4-427f-b233-ed97fc76abc5 085bf8ec-1841-4a4b-81c2-3ea1da79c1ed g.chr6:152776617C>A ENST00000367255.5 - 24 3437 c.2836G>T c.(2836-2838)Gct>Tct p.A946S SYNE1_ENST00000413186.2_Missense_Mutation_p.A946S|SYNE1_ENST00000341594.5_Missense_Mutation_p.A1012S|SYNE1_ENST00000423061.1_Missense_Mutation_p.A953S|SYNE1_ENST00000367248.3_Missense_Mutation_p.A936S|SYNE1_ENST00000367253.4_Missense_Mutation_p.A946S|SYNE1_ENST00000265368.4_Missense_Mutation_p.A946S|SYNE1_ENST00000495090.2_Missense_Mutation_p.A513S|SYNE1_ENST00000448038.1_Missense_Mutation_p.A953S NM_182961.3 NP_892006.3 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 946 cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex actin binding|lamin binding NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19) 524 Ovarian(120;0.0955) BRCA - Breast invasive adenocarcinoma(37;0.243) OV - Ovarian serous cystadenocarcinoma(155;2.24e-10) CCCTCCTGAGCAATCCGCAGT 0.512000 HNSCC(10;0.0054) 16 76 0.000308642 0.000318287 1 1 0 ANKRD36C 400986 broad.mit.edu 37 2 96593025 96593025 + Missense_Mutation SNP C C T rs75189823 by1000genomes TCGA-J4-A67M-01A-11D-A30E-08 TCGA-J4-A67M-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx da36622f-b6d4-427f-b233-ed97fc76abc5 085bf8ec-1841-4a4b-81c2-3ea1da79c1ed g.chr2:96593025C>T ENST00000456556.1 - 28 1960 c.1876G>A c.(1876-1878)Gat>Aat p.D626N ankyrin repeat domain 36C p.D626N(1) breast(1)|endometrium(8)|kidney(5)|lung(4) 18 TCTTTCTCATCACTTGTAGCC 0.318000 5 79 0 0 1 0 0 RP11-798G7.5 0 broad.mit.edu 37 17 43587569 43587569 + RNA SNP G G C rs149697015 by1000genomes TCGA-J4-A67M-01A-11D-A30E-08 TCGA-J4-A67M-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx da36622f-b6d4-427f-b233-ed97fc76abc5 085bf8ec-1841-4a4b-81c2-3ea1da79c1ed g.chr17:43587569G>C ENST00000253803.2 + 0 267 LRRC37A4P_ENST00000579913.1_RNA aactccgtctgaaaagaaaag 0.443000 4 58 0 0 1 0 0 OR4K15 81127 broad.mit.edu 37 14 20444014 20444014 + Missense_Mutation SNP C C T TCGA-J4-A67M-01A-11D-A30E-08 TCGA-J4-A67M-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx da36622f-b6d4-427f-b233-ed97fc76abc5 085bf8ec-1841-4a4b-81c2-3ea1da79c1ed g.chr14:20444014C>T ENST00000305051.5 + 1 412 c.337C>T c.(337-339)Cgc>Tgc p.R113C NM_001005486.1 NP_001005486.1 Q8NH41 OR4KF_HUMAN olfactory receptor, family 4, subfamily K, member 15 113 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(3)|kidney(2)|large_intestine(6)|lung(23)|ovary(1)|prostate(2)|skin(1)|stomach(1) 39 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;3.58e-06) GBM - Glioblastoma multiforme(265;0.00327) TCTGGTTGAGCGCAAGACTAT 0.453000 24 154 0 0 1 0 0 KCNF1 3754 broad.mit.edu 37 2 11053086 11053086 + Silent SNP G G A TCGA-J4-A67M-01A-11D-A30E-08 TCGA-J4-A67M-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx da36622f-b6d4-427f-b233-ed97fc76abc5 085bf8ec-1841-4a4b-81c2-3ea1da79c1ed g.chr2:11053086G>A ENST00000295082.1 + 1 1024 c.534G>A c.(532-534)tcG>tcA p.S178S NM_002236.4 NP_002227.2 Q9H3M0 KCNF1_HUMAN potassium voltage-gated channel, subfamily F, member 1 178 voltage-gated potassium channel complex voltage-gated potassium channel activity NS(1)|endometrium(2)|large_intestine(2)|lung(10)|ovary(2)|skin(1)|urinary_tract(1) 19 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191) Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.128) CCGAGTCGTCGTGCCCGGCGC 0.682000 5 84 0 0 1 0 0 PIGO 84720 broad.mit.edu 37 9 35093455 35093455 + Missense_Mutation SNP T T C TCGA-J4-A67M-01A-11D-A30E-08 TCGA-J4-A67M-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx da36622f-b6d4-427f-b233-ed97fc76abc5 085bf8ec-1841-4a4b-81c2-3ea1da79c1ed g.chr9:35093455T>C ENST00000378617.3 - 5 1296 c.902A>G c.(901-903)tAt>tGt p.Y301C PIGO_ENST00000298004.5_Missense_Mutation_p.Y301C|PIGO_ENST00000341666.3_Missense_Mutation_p.Y301C|PIGO_ENST00000361778.2_Missense_Mutation_p.Y301C NM_032634.3 NP_116023.2 Q8TEQ8 PIGO_HUMAN phosphatidylinositol glycan anchor biosynthesis, class O 301 C-terminal protein lipidation|preassembly of GPI anchor in ER membrane endoplasmic reticulum membrane|integral to membrane transferase activity endometrium(3)|kidney(2)|large_intestine(8)|lung(13)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(3) 38 LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778) TGTGGGGCTATACAGAAAGAG 0.547000 14 54 0 0 1 0 0 GP5 2814 broad.mit.edu 37 3 194118797 194118797 + Missense_Mutation SNP C C T TCGA-J4-A67M-01A-11D-A30E-08 TCGA-J4-A67M-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx da36622f-b6d4-427f-b233-ed97fc76abc5 085bf8ec-1841-4a4b-81c2-3ea1da79c1ed g.chr3:194118797C>T ENST00000401815.1 - 1 286 c.215G>A c.(214-216)gGc>gAc p.G72D GP5_ENST00000323007.3_Missense_Mutation_p.G72D P40197 GPV_HUMAN glycoprotein V (platelet) 72 blood coagulation, intrinsic pathway|cell adhesion|platelet activation integral to plasma membrane breast(3)|central_nervous_system(2)|endometrium(2)|large_intestine(9)|lung(14)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1) 35 all_cancers(143;6.64e-09)|Ovarian(172;0.0634) Melanoma(1037;0.211) OV - Ovarian serous cystadenocarcinoma(49;7.38e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06) GBM - Glioblastoma multiforme(46;4.06e-05) GACGGTCATGCCGCTGAAGCT 0.632000 4 137 0 0 1 0 0 ORC1 4998 broad.mit.edu 37 1 52847357 52847358 + Frame_Shift_Del DEL AG AG - TCGA-J4-A67M-01A-11D-A30E-08 TCGA-J4-A67M-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx da36622f-b6d4-427f-b233-ed97fc76abc5 085bf8ec-1841-4a4b-81c2-3ea1da79c1ed g.chr1:52847357_52847358delAG ENST00000371568.3 - 14 2307_2308 c.2089_2090delCT c.(2089-2091)afs p.L697fs ORC1_ENST00000371566.1_Frame_Shift_Del_p.L697fs NM_001190818.1|NM_001190819.1|NM_004153.3 NP_001177747.1|NP_001177748.1|NP_004144.2 Q13415 ORC1_HUMAN origin recognition complex, subunit 1 697 Necessary and sufficient for ORC complex assembly. cell cycle checkpoint|DNA-dependent DNA replication initiation|M/G1 transition of mitotic cell cycle|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle cytosol|nuclear origin of replication recognition complex|nucleolus|nucleoplasm|plasma membrane ATP binding|DNA binding|nucleoside-triphosphatase activity|protein binding breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 37 AAAGGCCTTTAGATGCTTGAGC 0.515 10 87 --- --- --- --- POU6F2 11281 broad.mit.edu 37 7 39379288 39379290 + In_Frame_Del DEL CAG CAG - TCGA-J4-A67M-01A-11D-A30E-08 TCGA-J4-A67M-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx da36622f-b6d4-427f-b233-ed97fc76abc5 085bf8ec-1841-4a4b-81c2-3ea1da79c1ed g.chr7:39379288_39379290delCAG ENST00000518318.2 + 5 601_603 c.559_561delCAG c.(559-561)del p.Q196del POU6F2_ENST00000517348.1_3'UTR|POU6F2_ENST00000403058.1_In_Frame_Del_p.Q196del|POU6F2_ENST00000559001.1_In_Frame_Del_p.Q188del P78424 PO6F2_HUMAN POU class 6 homeobox 2 196 Gln-rich. Q -> QQ (in Ref. 1; AAB49727/AAB49728). central nervous system development|ganglion mother cell fate determination|transcription from RNA polymerase II promoter|visual perception sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity NS(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 42 gctccagctccagcagcagcagc 0.616 9 43 --- --- --- --- KRT17P1 0 broad.mit.edu 37 17 16748911 16748913 + RNA DEL GCT GCT - TCGA-J4-A67M-01A-11D-A30E-08 TCGA-J4-A67M-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx da36622f-b6d4-427f-b233-ed97fc76abc5 085bf8ec-1841-4a4b-81c2-3ea1da79c1ed g.chr17:16748911_16748913delGCT ENST00000580363.1 - 0 282_284 lung(4) 4 CGCCCTCAAAGCTGCTGCTGCCA 0.650 4 9 --- --- --- --- ZNF28 7576 broad.mit.edu 37 19 53303676 53303677 + Frame_Shift_Del DEL TT TT - TCGA-J4-A67M-01A-11D-A30E-08 TCGA-J4-A67M-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx da36622f-b6d4-427f-b233-ed97fc76abc5 085bf8ec-1841-4a4b-81c2-3ea1da79c1ed g.chr19:53303676_53303677delTT ENST00000438150.2 - 2 2155_2156 c.1262_1263delAA c.(1261-1263)afs p.K421fs ZNF28_ENST00000360272.4_Frame_Shift_Del_p.K421fs|ZNF28_ENST00000414252.2_Frame_Shift_Del_p.K421fs|ZNF28_ENST00000457749.2_Frame_Shift_Del_p.K474fs P17035 ZNF28_HUMAN zinc finger protein 28 474 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|liver(1)|lung(10)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 34 GBM - Glioblastoma multiforme(134;0.0386)|Lung(386;0.145) ACCTGAAAACTTTGTCACATTC 0.386 15 163 --- --- --- --- RP11-305P22.9 0 broad.mit.edu 37 20 61680476 61680477 + RNA INS - - TCT rs13042292 TCGA-J4-A67M-01A-11D-A30E-08 TCGA-J4-A67M-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx da36622f-b6d4-427f-b233-ed97fc76abc5 085bf8ec-1841-4a4b-81c2-3ea1da79c1ed g.chr20:61680476_61680477insTCT ENST00000607802.1 + 0 91 RP11-305P22.5_ENST00000455711.1_lincRNA NR_033370.1 cctcttcctcctcctcctcctc 0.604 2 4 --- --- --- ---