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 TACC2 10579 broad.mit.edu 37 10 123844789 123844789 + Missense_Mutation SNP G G T TCGA-KK-A8IG-01A-11D-A364-08 TCGA-KK-A8IG-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 082edbc7-1c72-4487-8603-5f20dd332ac3 ab1b5fbe-db21-4790-94c3-f56579040952 g.chr10:123844789G>T ENST00000369005.1 + 4 3114 c.2774G>T c.(2773-2775)aGt>aTt p.S925I TACC2_ENST00000334433.3_Missense_Mutation_p.S925I|TACC2_ENST00000358010.1_Intron|TACC2_ENST00000513429.1_Intron|TACC2_ENST00000453444.2_Missense_Mutation_p.S925I|TACC2_ENST00000515273.1_Missense_Mutation_p.S925I|TACC2_ENST00000515603.1_Missense_Mutation_p.S925I NM_206862.2 NP_996744.2 O95359 TACC2_HUMAN transforming, acidic coiled-coil containing protein 2 925 microtubule organizing center|nucleus nuclear hormone receptor binding NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3) 83 all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197) GTTTGGGAGAGTTCTCTGACA 0.537000 25 50 3.28513e-13 3.82147e-13 1 1 0 METTL14 57721 broad.mit.edu 37 4 119609163 119609163 + Missense_Mutation SNP G G T TCGA-KK-A8IG-01A-11D-A364-08 TCGA-KK-A8IG-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 082edbc7-1c72-4487-8603-5f20dd332ac3 ab1b5fbe-db21-4790-94c3-f56579040952 g.chr4:119609163G>T ENST00000388822.4 + 2 319 c.152G>T c.(151-153)tGc>tTc p.C51F METTL14_ENST00000506780.1_Missense_Mutation_p.A13S Q9HCE5 MTL14_HUMAN methyltransferase like 14 51 nucleus mRNA (2'-O-methyladenosine-N6-)-methyltransferase activity endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|stomach(1) 16 AGAGAAACTTGCAGGTCAGTC 0.408000 10 12 0.000442599 0.000458694 1 1 0 ARHGAP39 80728 broad.mit.edu 37 8 145773234 145773234 + Silent SNP G G A TCGA-KK-A8IG-01A-11D-A364-08 TCGA-KK-A8IG-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 082edbc7-1c72-4487-8603-5f20dd332ac3 ab1b5fbe-db21-4790-94c3-f56579040952 g.chr8:145773234G>A ENST00000276826.5 - 4 1437 c.1236C>T c.(1234-1236)gcC>gcT p.A412A ARHGAP39_ENST00000377307.2_Silent_p.A412A|ARHGAP39_ENST00000540274.1_Silent_p.A412A Q9C0H5 RHG39_HUMAN Rho GTPase activating protein 39 412 axon guidance|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytoskeleton|cytosol|nucleus GTPase activator activity NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 22 GCCGCGGGCCGGCGCGCAGCT 0.711000 3 9 0 0 1 0 0 ZBED1 9189 broad.mit.edu 37 X 2407293 2407293 + Missense_Mutation SNP G G A TCGA-KK-A8IG-01A-11D-A364-08 TCGA-KK-A8IG-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 082edbc7-1c72-4487-8603-5f20dd332ac3 ab1b5fbe-db21-4790-94c3-f56579040952 g.chrX:2407293G>A ENST00000381223.4 - 2 1671 c.1468C>T c.(1468-1470)Cgg>Tgg p.R490W DHRSX_ENST00000334651.5_Intron|ZBED1_ENST00000381222.2_Missense_Mutation_p.R490W|ZBED1_ENST00000381218.3_Missense_Mutation_p.R490W NM_001171135.1|NM_001171136.1|NM_004729.3 NP_001164606.1|NP_001164607.1|NP_004720.1 O96006 ZBED1_HUMAN zinc finger, BED-type containing 1 490 nuclear chromosome DNA binding|metal ion binding|protein dimerization activity|transposase activity endometrium(8)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|upper_aerodigestive_tract(1) 25 all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122) ACCTGCTGCCGCTCGAAGGCG 0.627000 5 87 0 0 1 0 0 SLC4A1AP 22950 broad.mit.edu 37 2 27907927 27907927 + Silent SNP A A G TCGA-KK-A8IG-01A-11D-A364-08 TCGA-KK-A8IG-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 082edbc7-1c72-4487-8603-5f20dd332ac3 ab1b5fbe-db21-4790-94c3-f56579040952 g.chr2:27907927A>G ENST00000326019.6 + 10 2181 c.1899A>G c.(1897-1899)gaA>gaG p.E633E NM_018158.2 NP_060628.2 Q9BWU0 NADAP_HUMAN solute carrier family 4 (anion exchanger), member 1, adaptor protein 633 cytoplasm|nucleus double-stranded RNA binding|protein binding breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|upper_aerodigestive_tract(1) 23 Acute lymphoblastic leukemia(172;0.155) AGCGTCCAGAACTCCCTCCAA 0.418000 4 72 0 0 1 0 0 ARHGAP5 394 broad.mit.edu 37 14 32562152 32562152 + Missense_Mutation SNP C C A TCGA-KK-A8IG-01A-11D-A364-08 TCGA-KK-A8IG-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 082edbc7-1c72-4487-8603-5f20dd332ac3 ab1b5fbe-db21-4790-94c3-f56579040952 g.chr14:32562152C>A ENST00000345122.3 + 2 2592 c.2277C>A c.(2275-2277)caC>caA p.H759Q ARHGAP5_ENST00000432921.1_Missense_Mutation_p.H759Q|ARHGAP5_ENST00000396582.2_Intron|ARHGAP5_ENST00000539826.2_Missense_Mutation_p.H759Q|ARHGAP5_ENST00000556611.1_Missense_Mutation_p.H759Q|ARHGAP5_ENST00000433497.1_Intron NM_001030055.1 NP_001025226.1 Q13017 RHG05_HUMAN Rho GTPase activating protein 5 759 cell adhesion|Rho protein signal transduction cytosol|membrane GTP binding|GTPase activity|Rho GTPase activator activity|SH2 domain binding NS(2)|breast(10)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(12)|ovary(4)|skin(1)|stomach(1)|urinary_tract(4) 55 Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.186) LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0952)|STAD - Stomach adenocarcinoma(7;0.173) GBM - Glioblastoma multiforme(265;0.00566) CAGTTAAACACAATTTGGATG 0.408000 19 77 2.4624e-09 2.80713e-09 1 1 0 DIRC2 84925 broad.mit.edu 37 3 122545904 122545904 + Missense_Mutation SNP T T C TCGA-KK-A8IG-01A-11D-A364-08 TCGA-KK-A8IG-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 082edbc7-1c72-4487-8603-5f20dd332ac3 ab1b5fbe-db21-4790-94c3-f56579040952 g.chr3:122545904T>C ENST00000261038.5 + 3 1093 c.695T>C c.(694-696)tTa>tCa p.L232S NM_032839.2 NP_116228.1 Q96SL1 DIRC2_HUMAN disrupted in renal carcinoma 2 232 transport integral to membrane endometrium(2)|large_intestine(1)|lung(14)|prostate(1) 18 GBM - Glioblastoma multiforme(114;0.0614) GAGGCTGTGTTATATGCAGGT 0.383000 27 79 0 0 1 0 0 DOPEY1 23033 broad.mit.edu 37 6 83850061 83850061 + Nonsense_Mutation SNP C C A TCGA-KK-A8IG-01A-11D-A364-08 TCGA-KK-A8IG-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 082edbc7-1c72-4487-8603-5f20dd332ac3 ab1b5fbe-db21-4790-94c3-f56579040952 g.chr6:83850061C>A ENST00000349129.2 + 23 5614 c.5354C>A c.(5353-5355)tCa>tAa p.S1785* DOPEY1_ENST00000237163.5_Nonsense_Mutation_p.S1766*|DOPEY1_ENST00000484282.1_3'UTR|DOPEY1_ENST00000369739.3_Nonsense_Mutation_p.S1776* NM_015018.3 NP_055833.2 Q5JWR5 DOP1_HUMAN dopey family member 1 1785 protein transport breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(16)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2) 67 all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203) BRCA - Breast invasive adenocarcinoma(397;0.053) GCTGATTCTTCAGAAAAGATG 0.408000 7 84 0.27861 0.283586 1 1 0 GPR37 2861 broad.mit.edu 37 7 124387012 124387012 + Missense_Mutation SNP C C T TCGA-KK-A8IG-01A-11D-A364-08 TCGA-KK-A8IG-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 082edbc7-1c72-4487-8603-5f20dd332ac3 ab1b5fbe-db21-4790-94c3-f56579040952 g.chr7:124387012C>T ENST00000303921.2 - 2 2059 c.1409G>A c.(1408-1410)cGc>cAc p.R470H NM_005302.2 NP_005293.1 O15354 GPR37_HUMAN G protein-coupled receptor 37 (endothelin receptor type B-like) 470 endoplasmic reticulum membrane|integral to plasma membrane G-protein coupled receptor activity p.R470H(1) breast(2)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(11)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 CTCTGCTTTGCGGATTTTCCT 0.463000 4 127 0 0 1 0 0 EP400 57634 broad.mit.edu 37 12 132547087 132547087 + Silent SNP G G A rs12366766 TCGA-KK-A8IG-01A-11D-A364-08 TCGA-KK-A8IG-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 082edbc7-1c72-4487-8603-5f20dd332ac3 ab1b5fbe-db21-4790-94c3-f56579040952 g.chr12:132547087G>A ENST00000333577.4 + 48 8392 c.8283G>A c.(8281-8283)caG>caA p.Q2761Q EP400_ENST00000330386.6_Silent_p.Q2644Q|EP400_ENST00000332482.4_Silent_p.Q2688Q|EP400_ENST00000389561.2_Silent_p.Q2725Q|EP400_ENST00000389562.2_Silent_p.Q2724Q Q96L91 EP400_HUMAN E1A binding protein p400 2761 Interaction with ZNF42 (By similarity).|Poly-Gln. histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent NuA4 histone acetyltransferase complex|nuclear speck ATP binding|DNA binding|helicase activity p.Q2724Q(16)|p.Q2725Q(1) NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 161 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.198) OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06) agcagcagcagcaacaacagc 0.562000 3 33 0 0 1 0 0 PTRHD1 391356 broad.mit.edu 37 2 25013322 25013322 + Missense_Mutation SNP T T G TCGA-KK-A8IG-01A-11D-A364-08 TCGA-KK-A8IG-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 082edbc7-1c72-4487-8603-5f20dd332ac3 ab1b5fbe-db21-4790-94c3-f56579040952 g.chr2:25013322T>G ENST00000328379.4 - 2 385 c.381A>C c.(379-381)gaA>gaC p.E127D PTRHD1_ENST00000487316.1_5'UTR NM_001013663.1 NP_001013685.1 Q6GMV3 PTRD1_HUMAN peptidyl-tRNA hydrolase domain containing 1 127 translation aminoacyl-tRNA hydrolase activity|protein tyrosine phosphatase activity autonomic_ganglia(1)|central_nervous_system(1)|large_intestine(2)|lung(1)|skin(1) 6 GGCCCACTTCTTCCTTGGGGT 0.493000 23 43 0 0 1 0 0 EPHB2 2048 broad.mit.edu 37 1 23219448 23219448 + Silent SNP C C T TCGA-KK-A8IG-01A-11D-A364-08 TCGA-KK-A8IG-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 082edbc7-1c72-4487-8603-5f20dd332ac3 ab1b5fbe-db21-4790-94c3-f56579040952 g.chr1:23219448C>T ENST00000400191.3 + 7 1518 c.1500C>T c.(1498-1500)gcC>gcT p.A500A EPHB2_ENST00000465676.1_3'UTR|EPHB2_ENST00000374630.3_Silent_p.A500A|EPHB2_ENST00000374627.1_Silent_p.A495A|EPHB2_ENST00000374632.3_Silent_p.A500A NM_004442.6|NM_017449.3 NP_004433.2|NP_059145.2 P29323 EPHB2_HUMAN EPH receptor B2 500 Fibronectin type-III 2. axon guidance integral to plasma membrane ATP binding|transmembrane-ephrin receptor activity NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(8)|stomach(1)|urinary_tract(1) 56 Colorectal(325;3.46e-05)|Lung NSC(340;3.7e-05)|all_lung(284;5.45e-05)|Renal(390;0.000228)|Breast(348;0.0027)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0258) UCEC - Uterine corpus endometrioid carcinoma (279;0.0348)|OV - Ovarian serous cystadenocarcinoma(117;3.67e-26)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|GBM - Glioblastoma multiforme(114;2.93e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000606)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.126)|Lung(427;0.153) GCCTCAAAGCCGGCGCCATCT 0.572000 12 23 0 0 1 0 0 ASPG 374569 broad.mit.edu 37 14 104573550 104573550 + Missense_Mutation SNP G G A TCGA-KK-A8IG-01A-11D-A364-08 TCGA-KK-A8IG-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 082edbc7-1c72-4487-8603-5f20dd332ac3 ab1b5fbe-db21-4790-94c3-f56579040952 g.chr14:104573550G>A ENST00000551177.1 + 12 1393 c.1301G>A c.(1300-1302)gGc>gAc p.G434D ASPG_ENST00000546892.2_Missense_Mutation_p.G434D|ASPG_ENST00000549809.1_3'UTR|ASPG_ENST00000455920.2_Missense_Mutation_p.G434D NM_001080464.2 NP_001073933.2 Q86U10 LPP60_HUMAN asparaginase homolog (S. cerevisiae) 434 lipid catabolic process 1-alkyl-2-acetylglycerophosphocholine esterase activity|asparaginase activity|lysophospholipase activity endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)|skin(1)|urinary_tract(1) 11 GACTTTAACGGCCAAACCCCA 0.667000 3 45 0 0 1 0 0 LRRC66 339977 broad.mit.edu 37 4 52860765 52860765 + Nonsense_Mutation SNP G G C TCGA-KK-A8IG-01A-11D-A364-08 TCGA-KK-A8IG-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 082edbc7-1c72-4487-8603-5f20dd332ac3 ab1b5fbe-db21-4790-94c3-f56579040952 g.chr4:52860765G>C ENST00000343457.3 - 4 2429 c.2423C>G c.(2422-2424)tCa>tGa p.S808* NM_001024611.1 NP_001019782.1 Q68CR7 LRC66_HUMAN leucine rich repeat containing 66 808 integral to membrane central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(8)|lung(34)|ovary(1)|pancreas(1)|prostate(2)|skin(1) 58 ATTCCCTGGTGACCTGGGCCA 0.493000 3 23 0 0 1 0 0 LAD1 3898 broad.mit.edu 37 1 201356120 201356120 + Silent SNP G G A TCGA-KK-A8IG-01A-11D-A364-08 TCGA-KK-A8IG-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 082edbc7-1c72-4487-8603-5f20dd332ac3 ab1b5fbe-db21-4790-94c3-f56579040952 g.chr1:201356120G>A ENST00000391967.2 - 3 670 c.369C>T c.(367-369)agC>agT p.S123S LAD1_ENST00000367313.3_Silent_p.S137S NM_005558.3 NP_005549.2 O00515 LAD1_HUMAN ladinin 1 123 basement membrane structural molecule activity breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(6)|prostate(2)|skin(2) 19 CCTGCACAGGGCTCAAGCTGT 0.662000 3 45 0 0 1 0 0 WDR73 84942 broad.mit.edu 37 15 85189499 85189499 + Silent SNP A A G TCGA-KK-A8IG-01A-11D-A364-08 TCGA-KK-A8IG-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 082edbc7-1c72-4487-8603-5f20dd332ac3 ab1b5fbe-db21-4790-94c3-f56579040952 g.chr15:85189499A>G ENST00000434634.2 - 6 493 c.433T>C c.(433-435)Ttg>Ctg p.L145L WDR73_ENST00000398528.3_5'UTR NM_032856.2 NP_116245.2 Q6P4I2 WDR73_HUMAN WD repeat domain 73 145 cervix(1)|large_intestine(1)|lung(1) 3 CCGGGTGCCAATGTGGAGAAG 0.562000 6 32 0 0 1 0 0 OR4N2 390429 broad.mit.edu 37 14 20296284 20296284 + Missense_Mutation SNP G G T TCGA-KK-A8IG-01A-11D-A364-08 TCGA-KK-A8IG-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 082edbc7-1c72-4487-8603-5f20dd332ac3 ab1b5fbe-db21-4790-94c3-f56579040952 g.chr14:20296284G>T ENST00000315947.1 + 1 677 c.677G>T c.(676-678)cGa>cTa p.R226L OR4N2_ENST00000568211.1_3'UTR NM_001004723.1 NP_001004723.1 Q8NGD1 OR4N2_HUMAN olfactory receptor, family 4, subfamily N, member 2 226 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(1)|lung(32)|ovary(2)|prostate(1)|skin(2)|stomach(2) 52 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00327) TGTCGCATACGAGGGTCTTCT 0.478000 8 135 0.000442599 0.000458694 1 1 0 TOP1 7150 broad.mit.edu 37 20 39725936 39725936 + Silent SNP T T C TCGA-KK-A8IG-01A-11D-A364-08 TCGA-KK-A8IG-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 082edbc7-1c72-4487-8603-5f20dd332ac3 ab1b5fbe-db21-4790-94c3-f56579040952 g.chr20:39725936T>C ENST00000361337.2 + 10 1057 c.807T>C c.(805-807)acT>acC p.T269T NM_003286.2 NP_003277.1 P11387 TOP1_HUMAN topoisomerase (DNA) I 269 DNA topological change|interspecies interaction between organisms|phosphorylation|programmed cell death|response to drug chromosome|nucleolus|nucleoplasm ATP binding|chromatin DNA binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA topoisomerase type I activity|protein binding breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(11)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1) 37 Myeloproliferative disorder(115;0.00878) Irinotecan(DB00762)|Lucanthone(DB04967)|Topotecan(DB01030) ATGAATATACTACCAAGGAAA 0.368000 T NUP98 AML* 28 62 0 0 1 0 0 TMEM248 55069 broad.mit.edu 37 7 66413640 66413640 + Silent SNP C C T TCGA-KK-A8IG-01A-11D-A364-08 TCGA-KK-A8IG-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 082edbc7-1c72-4487-8603-5f20dd332ac3 ab1b5fbe-db21-4790-94c3-f56579040952 g.chr7:66413640C>T ENST00000341567.4 + 4 810 c.555C>T c.(553-555)tgC>tgT p.C185C NM_017994.4 NP_060464.1 transmembrane protein 248 TCACAGCCTGCATGACCCTCA 0.592000 3 36 0 0 1 0 0 KBTBD2 25948 broad.mit.edu 37 7 32909378 32909378 + Missense_Mutation SNP C C T TCGA-KK-A8IG-01A-11D-A364-08 TCGA-KK-A8IG-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 082edbc7-1c72-4487-8603-5f20dd332ac3 ab1b5fbe-db21-4790-94c3-f56579040952 g.chr7:32909378C>T ENST00000304056.4 - 4 2150 c.1451G>A c.(1450-1452)gGc>gAc p.G484D AVL9_ENST00000404479.1_Intron NM_015483.2 NP_056298.2 Q8IY47 KBTB2_HUMAN kelch repeat and BTB (POZ) domain containing 2 484 endometrium(3)|kidney(3)|large_intestine(3)|lung(7)|urinary_tract(1) 17 GBM - Glioblastoma multiforme(11;0.0499) GAGTCTTATGCCGGAATTGGT 0.428000 4 92 0 0 1 0 0 DIRC2 84925 broad.mit.edu 37 3 122545901 122545901 + Missense_Mutation SNP T T C TCGA-KK-A8IG-01A-11D-A364-08 TCGA-KK-A8IG-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 082edbc7-1c72-4487-8603-5f20dd332ac3 ab1b5fbe-db21-4790-94c3-f56579040952 g.chr3:122545901T>C ENST00000261038.5 + 3 1090 c.692T>C c.(691-693)gTg>gCg p.V231A NM_032839.2 NP_116228.1 Q96SL1 DIRC2_HUMAN disrupted in renal carcinoma 2 231 transport integral to membrane endometrium(2)|large_intestine(1)|lung(14)|prostate(1) 18 GBM - Glioblastoma multiforme(114;0.0614) ATAGAGGCTGTGTTATATGCA 0.378000 28 82 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9089955 9089955 + Silent SNP G G A TCGA-KK-A8IG-01A-11D-A364-08 TCGA-KK-A8IG-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 082edbc7-1c72-4487-8603-5f20dd332ac3 ab1b5fbe-db21-4790-94c3-f56579040952 g.chr19:9089955G>A ENST00000397910.4 - 1 2063 c.1860C>T c.(1858-1860)agC>agT p.S620S NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 620 Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 TTGTGCCCTGGCTTCCCCTGG 0.572000 4 48 0 0 1 0 0 OFCC1 266553 broad.mit.edu 37 6 9908826 9908826 + Missense_Mutation SNP C C T TCGA-KK-A8IG-01A-11D-A364-08 TCGA-KK-A8IG-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 082edbc7-1c72-4487-8603-5f20dd332ac3 ab1b5fbe-db21-4790-94c3-f56579040952 g.chr6:9908826C>T ENST00000316020.6 - 5 471 c.472G>A c.(472-474)Ggc>Agc p.G158S OFCC1_ENST00000472329.1_5'UTR orofacial cleft 1 candidate 1 endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|stomach(1) 11 Ovarian(93;0.0473)|Breast(50;0.201) all_hematologic(90;0.124) TAATTTCTGCCGTATTCATTT 0.408000 4 76 0 0 1 0 0 ACAN 176 broad.mit.edu 37 15 89392695 89392695 + Missense_Mutation SNP G G C TCGA-KK-A8IG-01A-11D-A364-08 TCGA-KK-A8IG-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 082edbc7-1c72-4487-8603-5f20dd332ac3 ab1b5fbe-db21-4790-94c3-f56579040952 g.chr15:89392695G>C ENST00000439576.2 + 10 2133 c.1759G>C c.(1759-1761)Gag>Cag p.E587Q ACAN_ENST00000559004.1_Missense_Mutation_p.E587Q|ACAN_ENST00000352105.7_Missense_Mutation_p.E587Q|ACAN_ENST00000561243.1_Missense_Mutation_p.E587Q|ACAN_ENST00000558207.1_Missense_Mutation_p.E587Q NM_013227.3 NP_037359.3 E7EX88 E7EX88_HUMAN aggrecan 587 cell adhesion hyaluronic acid binding|sugar binding NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2) 93 Lung NSC(78;0.0392)|all_lung(78;0.077) BRCA - Breast invasive adenocarcinoma(143;0.146) CACACGCCTTGAGCAGTTCAC 0.632000 4 12 0 0 1 0 0 AP4B1 10717 broad.mit.edu 37 1 114438385 114438385 + Missense_Mutation SNP C C T TCGA-KK-A8IG-01A-11D-A364-08 TCGA-KK-A8IG-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 082edbc7-1c72-4487-8603-5f20dd332ac3 ab1b5fbe-db21-4790-94c3-f56579040952 g.chr1:114438385C>T ENST00000369569.1 - 9 2066 c.1786G>A c.(1786-1788)Gca>Aca p.A596T AP4B1-AS1_ENST00000419536.1_RNA|AP4B1_ENST00000369567.1_Missense_Mutation_p.A428T|AP4B1_ENST00000462591.1_5'UTR|AP4B1_ENST00000256658.4_Missense_Mutation_p.A596T NM_001253852.1 NP_001240781.1 Q9Y6B7 AP4B1_HUMAN adaptor-related protein complex 4, beta 1 subunit 596 intracellular protein transport|vesicle-mediated transport clathrin adaptor complex|soluble fraction|trans-Golgi network protein binding|protein transporter activity breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(9)|ovary(3)|prostate(3) 25 Lung SC(450;0.184) all_cancers(81;4.5e-08)|all_epithelial(167;1.1e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133) TTACCTGATGCGGCAAAGGAT 0.438000 3 53 0 0 1 0 0 PCDH18 54510 broad.mit.edu 37 4 138452054 138452054 + Missense_Mutation SNP A A C TCGA-KK-A8IG-01A-11D-A364-08 TCGA-KK-A8IG-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 082edbc7-1c72-4487-8603-5f20dd332ac3 ab1b5fbe-db21-4790-94c3-f56579040952 g.chr4:138452054A>C ENST00000344876.4 - 1 1575 c.1189T>G c.(1189-1191)Tgt>Ggt p.C397G PCDH18_ENST00000412923.2_Missense_Mutation_p.C397G|PCDH18_ENST00000511115.1_Intron|PCDH18_ENST00000510305.1_Intron|PCDH18_ENST00000507846.1_Missense_Mutation_p.C177G NM_019035.3 NP_061908.1 Q9HCL0 PCD18_HUMAN protocadherin 18 397 Cadherin 4. brain development|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 86 all_hematologic(180;0.24) TGAAGCTTACAAACTATTTCT 0.343000 3 70 0 0 1 0 0 NCCRP1 342897 broad.mit.edu 37 19 39691043 39691043 + Silent SNP G G A TCGA-KK-A8IG-01A-11D-A364-08 TCGA-KK-A8IG-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 082edbc7-1c72-4487-8603-5f20dd332ac3 ab1b5fbe-db21-4790-94c3-f56579040952 g.chr19:39691043G>A ENST00000339852.4 + 5 628 c.606G>A c.(604-606)gcG>gcA p.A202A NM_001001414.1 NP_001001414.1 Q6ZVX7 NCRP1_HUMAN non-specific cytotoxic cell receptor protein 1 homolog (zebrafish) 202 FBA. protein catabolic process kidney(1)|large_intestine(2)|liver(1)|lung(4)|ovary(1)|urinary_tract(1) 10 GGCTGCTGGCGGCCGACCGCC 0.672000 10 136 0 0 1 0 0 SLC25A38 54977 broad.mit.edu 37 3 39436020 39436020 + Missense_Mutation SNP C C T TCGA-KK-A8IG-01A-11D-A364-08 TCGA-KK-A8IG-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 082edbc7-1c72-4487-8603-5f20dd332ac3 ab1b5fbe-db21-4790-94c3-f56579040952 g.chr3:39436020C>T ENST00000273158.4 + 6 1122 c.745C>T c.(745-747)Cca>Tca p.P249S NM_017875.2 NP_060345.2 Q96DW6 S2538_HUMAN solute carrier family 25, member 38 249 erythrocyte differentiation|heme biosynthetic process|transport integral to membrane|mitochondrial inner membrane breast(1)|endometrium(1)|large_intestine(1)|lung(6)|skin(1)|stomach(1) 11 KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661) GCAGCTTTATCCACTGAAGTT 0.378000 38 79 0 0 1 0 0 BAGE2 85319 broad.mit.edu 37 21 11098863 11098863 + RNA SNP A A G rs75318310 by1000genomes TCGA-KK-A8IG-01A-11D-A364-08 TCGA-KK-A8IG-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 082edbc7-1c72-4487-8603-5f20dd332ac3 ab1b5fbe-db21-4790-94c3-f56579040952 g.chr21:11098863A>G ENST00000470054.1 - 0 62 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) ccagcctccaactcccccttc 0.627000 8 16 0 0 1 0 0 OTOP2 92736 broad.mit.edu 37 17 72926516 72926516 + Nonsense_Mutation SNP G G A TCGA-KK-A8IG-01A-11D-A364-08 TCGA-KK-A8IG-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 082edbc7-1c72-4487-8603-5f20dd332ac3 ab1b5fbe-db21-4790-94c3-f56579040952 g.chr17:72926516G>A ENST00000331427.4 + 6 878 c.786G>A c.(784-786)tgG>tgA p.W262* OTOP2_ENST00000580223.1_Nonsense_Mutation_p.W262* NM_178160.2 NP_835454.1 Q7RTS6 OTOP2_HUMAN otopetrin 2 262 integral to membrane breast(4)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(13)|ovary(3)|prostate(4)|skin(1)|urinary_tract(2) 39 all_lung(278;0.172)|Lung NSC(278;0.207) ATGTCATGTGGAAGAATGTGG 0.577000 121 123 0 0 1 0 0 CD180 4064 broad.mit.edu 37 5 66479763 66479763 + Missense_Mutation SNP A A G TCGA-KK-A8IG-01A-11D-A364-08 TCGA-KK-A8IG-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 082edbc7-1c72-4487-8603-5f20dd332ac3 ab1b5fbe-db21-4790-94c3-f56579040952 g.chr5:66479763A>G ENST00000256447.4 - 3 1065 c.908T>C c.(907-909)tTg>tCg p.L303S NM_005582.2 NP_005573.2 Q99467 CD180_HUMAN CD180 molecule 303 inflammatory response|innate immune response integral to membrane|plasma membrane receptor activity cervix(1)|endometrium(2)|kidney(7)|large_intestine(12)|liver(1)|lung(8)|ovary(1)|stomach(2) 34 Lung NSC(167;4.94e-05)|Prostate(74;0.00601)|Ovarian(174;0.0654)|Breast(144;0.198)|Colorectal(97;0.234) Lung(70;0.0046) TGTCAGATCCAATTCTTGGAG 0.453000 25 55 0 0 1 0 0 HS6ST1 9394 broad.mit.edu 37 2 129026419 129026419 + Nonsense_Mutation SNP G G A rs139541363 by1000genomes TCGA-KK-A8IG-01A-11D-A364-08 TCGA-KK-A8IG-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 082edbc7-1c72-4487-8603-5f20dd332ac3 ab1b5fbe-db21-4790-94c3-f56579040952 g.chr2:129026419G>A ENST00000259241.6 - 2 566 c.553C>T c.(553-555)Cga>Tga p.R185* NM_004807.2 NP_004798.3 O60243 H6ST1_HUMAN heparan sulfate 6-O-sulfotransferase 1 185 3'-phosphate binding (Potential). heparan sulfate proteoglycan biosynthetic process, enzymatic modification integral to plasma membrane sulfotransferase activity p.R185*(2) endometrium(3)|liver(1)|lung(7)|pancreas(1)|prostate(2)|skin(1) 15 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.117) ACGGGGTCTCGTAGCAGGGTG 0.627000 3 24 0 0 1 0 0 THY1 7070 broad.mit.edu 37 11 119291595 119291595 + Silent SNP G G A TCGA-KK-A8IG-01A-11D-A364-08 TCGA-KK-A8IG-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 082edbc7-1c72-4487-8603-5f20dd332ac3 ab1b5fbe-db21-4790-94c3-f56579040952 g.chr11:119291595G>A ENST00000284240.5 - 2 1060 c.21C>T c.(19-21)atC>atT p.I7I USP2-AS1_ENST00000578923.1_RNA|USP2-AS1_ENST00000530002.1_RNA|THY1_ENST00000528522.1_Silent_p.I7I|THY1_ENST00000527590.1_Intron|USP2-AS1_ENST00000500970.1_RNA|THY1_ENST00000580275.1_Silent_p.I7I|USP2-AS1_ENST00000498979.2_RNA NM_006288.3 NP_006279.2 P04216 THY1_HUMAN Thy-1 cell surface antigen 7 angiogenesis|cell-cell adhesion|cytoskeleton organization|focal adhesion assembly|negative regulation of axonogenesis|negative regulation of cell migration|negative regulation of protein kinase activity|negative regulation of T cell receptor signaling pathway|positive regulation of release of sequestered calcium ion into cytosol|positive regulation of T cell activation|retinal cone cell development|T cell receptor signaling pathway endoplasmic reticulum|growth cone|integral to plasma membrane|membrane raft GPI anchor binding|integrin binding|Rho GTPase activator activity breast(1)|kidney(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1) 12 Medulloblastoma(222;0.0523)|Breast(348;0.174)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;3.83e-05) GCAGGAGAGCGATGCTGATGG 0.607000 17 143 0 0 1 0 0 ALX1 8092 broad.mit.edu 37 12 85677394 85677394 + Missense_Mutation SNP G G A TCGA-KK-A8IG-01A-11D-A364-08 TCGA-KK-A8IG-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 082edbc7-1c72-4487-8603-5f20dd332ac3 ab1b5fbe-db21-4790-94c3-f56579040952 g.chr12:85677394G>A ENST00000316824.3 + 2 426 c.271G>A c.(271-273)Gaa>Aaa p.E91K NM_006982.2 NP_008913.2 Q15699 ALX1_HUMAN ALX homeobox 1 91 brain development|cartilage condensation|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter sequence-specific DNA binding transcription factor activity|transcription corepressor activity breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|ovary(1) 26 GBM - Glioblastoma multiforme(134;0.134) CCTTCACACCGAACTGAATAG 0.453000 19 26 0 0 1 0 0 TP53 7157 broad.mit.edu 37 17 7577538 7577538 + Missense_Mutation SNP C C T rs11540652 TCGA-KK-A8IG-01A-11D-A364-08 TCGA-KK-A8IG-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 082edbc7-1c72-4487-8603-5f20dd332ac3 ab1b5fbe-db21-4790-94c3-f56579040952 g.chr17:7577538C>T ENST00000420246.2 - 7 875 c.743G>A c.(742-744)cGg>cAg p.R248Q TP53_ENST00000359597.4_Missense_Mutation_p.R248Q|TP53_ENST00000445888.2_Missense_Mutation_p.R248Q|TP53_ENST00000413465.2_Missense_Mutation_p.R248Q|TP53_ENST00000455263.2_Missense_Mutation_p.R248Q|TP53_ENST00000269305.4_Missense_Mutation_p.R248Q NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 248 Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain. NR -> IP (in a sporadic cancer; somatic mutation).|NR -> KW (in sporadic cancers; somatic mutation).|R -> C (in a sporadic cancer; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs11540652).|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.R248Q(580)|p.R248L(75)|p.R248P(19)|p.R155Q(18)|p.0?(8)|p.?(5)|p.R155L(3)|p.R155P(2)|p.N247_R248delNR(2)|p.R248fs*16(2)|p.M246_P250delMNRRP(2)|p.R248_P250delRRP(1)|p.unknown(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R249fs*96(1)|p.R248fs*>39(1)|p.R248C(1)|p.G245fs*14(1)|p.N247_R248>IP(1) NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79) 24185 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) GATGGGCCTCCGGTTCATGCC 0.572000 R248Q(BL41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CA46_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(EM2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(HCC1143_BREAST)|R248Q(HCC70_BREAST)|R248Q(HEC1A_ENDOMETRIUM)|R248Q(HS683_CENTRAL_NERVOUS_SYSTEM)|R248Q(HSC4_UPPER_AERODIGESTIVE_TRACT)|R248Q(KASUMI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KYO1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KYSE150_OESOPHAGUS)|R248Q(MOLM6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NAMALWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NB4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NCIH211_LUNG)|R248Q(NCIN87_STOMACH)|R248Q(NIHOVCAR3_OVARY)|R248Q(NUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(P12ICHIKAWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(PANC0203_PANCREAS)|R248Q(PC14_LUNG)|R248Q(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(RT112_URINARY_TRACT)|R248Q(SEM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SF295_CENTRAL_NERVOUS_SYSTEM)|R248Q(SKUT1_SOFT_TISSUE)|R248Q(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SW1463_LARGE_INTESTINE)|R248Q(WSUDLCL2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE) 111 """Mis, N, F""" """breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types""" """breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types""" Other conserved DNA damage response genes Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 19 26 0 0 1 0 0 ARHGAP32 9743 broad.mit.edu 37 11 128993409 128993409 + Missense_Mutation SNP C C T TCGA-KK-A8IG-01A-11D-A364-08 TCGA-KK-A8IG-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 082edbc7-1c72-4487-8603-5f20dd332ac3 ab1b5fbe-db21-4790-94c3-f56579040952 g.chr11:128993409C>T ENST00000310343.9 - 4 333 c.334G>A c.(334-336)Ggt>Agt p.G112S ARHGAP32_ENST00000524655.1_Missense_Mutation_p.G38S NM_001142685.1 NP_001136157.1 A7KAX9 RHG32_HUMAN Rho GTPase activating protein 32 112 cell communication|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cell cortex|cell junction|cytosol|dendritic spine|endoplasmic reticulum membrane|endosome membrane|Golgi membrane|postsynaptic density|postsynaptic membrane GTPase activator activity|phosphatidylinositol binding breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(28)|ovary(3)|prostate(6)|urinary_tract(3) 60 GGAAAGTGACCTTTAGTGAAG 0.338000 7 15 0 0 1 0 0 LINC00969 0 broad.mit.edu 37 3 195391031 195391031 + RNA SNP C C T TCGA-KK-A8IG-01A-11D-A364-08 TCGA-KK-A8IG-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 082edbc7-1c72-4487-8603-5f20dd332ac3 ab1b5fbe-db21-4790-94c3-f56579040952 g.chr3:195391031C>T ENST00000445430.1 + 0 557 GCGGACACAGCCTCAAGTTTG 0.488000 7 105 0 0 1 0 0 AP3B2 8120 broad.mit.edu 37 15 83350314 83350314 + Missense_Mutation SNP G G T TCGA-KK-A8IG-01A-11D-A364-08 TCGA-KK-A8IG-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 082edbc7-1c72-4487-8603-5f20dd332ac3 ab1b5fbe-db21-4790-94c3-f56579040952 g.chr15:83350314G>T ENST00000261722.3 - 5 586 c.379C>A c.(379-381)Cgt>Agt p.R127S AP3B2_ENST00000535348.1_Missense_Mutation_p.R95S|RP11-752G15.3_ENST00000560650.1_RNA|AP3B2_ENST00000535359.1_Missense_Mutation_p.R127S NM_004644.3 NP_004635.2 Q13367 AP3B2_HUMAN adaptor-related protein complex 3, beta 2 subunit 127 endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport clathrin coated vesicle membrane|COPI-coated vesicle|membrane coat binding|protein transporter activity breast(4)|endometrium(1)|kidney(1)|large_intestine(4)|lung(21)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(2) 41 BRCA - Breast invasive adenocarcinoma(143;0.229) GCACTGGCACGAATCAGCTGG 0.572000 9 34 2.17888e-05 2.38838e-05 1 1 0 PHF17 0 broad.mit.edu 37 4 129782991 129782991 + Missense_Mutation SNP A A T TCGA-KK-A8IG-01A-11D-A364-08 TCGA-KK-A8IG-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 082edbc7-1c72-4487-8603-5f20dd332ac3 ab1b5fbe-db21-4790-94c3-f56579040952 g.chr4:129782991A>T ENST00000226319.6 + 9 1394 c.1114A>T c.(1114-1116)Agg>Tgg p.R372W PHF17_ENST00000512960.1_Missense_Mutation_p.R372W|PHF17_ENST00000413543.2_Missense_Mutation_p.R372W|PHF17_ENST00000452328.2_Missense_Mutation_p.R360W|PHF17_ENST00000511647.1_Missense_Mutation_p.R372W NM_199320.2 NP_955352.1 Q6IE81 JADE1_HUMAN 372 apoptosis|histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation|negative regulation of cell growth|regulation of transcription, DNA-dependent|response to stress|transcription, DNA-dependent histone acetyltransferase complex|mitochondrion protein binding|zinc ion binding NS(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 29 CAGCTCACATAGGAAACCCGA 0.557000 8 135 0 0 1 0 0 EFCAB12 90288 broad.mit.edu 37 3 129120474 129120474 + Missense_Mutation SNP C C T TCGA-KK-A8IG-01A-11D-A364-08 TCGA-KK-A8IG-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 082edbc7-1c72-4487-8603-5f20dd332ac3 ab1b5fbe-db21-4790-94c3-f56579040952 g.chr3:129120474C>T ENST00000505956.1 - 9 1843 c.1681G>A c.(1681-1683)Gcc>Acc p.A561T EFCAB12_ENST00000326085.3_Missense_Mutation_p.A561T NM_207307.1 NP_997190.1 EF-hand calcium binding domain 12 TCATAATGGGCGTGGGTCATG 0.602000 3 3 0 0 1 0 0 SSTR1 0 broad.mit.edu 37 14 38679570 38679570 + Missense_Mutation SNP C C T TCGA-KK-A8IG-01A-11D-A364-08 TCGA-KK-A8IG-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 082edbc7-1c72-4487-8603-5f20dd332ac3 ab1b5fbe-db21-4790-94c3-f56579040952 g.chr14:38679570C>T ENST00000267377.2 + 3 1593 c.976C>T c.(976-978)Ctc>Ttc p.L326F NM_001049.2 NP_001040.1 P30872 SSR1_HUMAN somatostatin receptor 1 326 digestion|G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cell proliferation|response to nutrient integral to plasma membrane somatostatin receptor activity breast(1)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 29 Hepatocellular(127;0.213)|Esophageal squamous(585;0.22) Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187) GBM - Glioblastoma multiforme(112;0.00444) Octreotide(DB00104) CTATGGCTTTCTCTCAGACAA 0.582000 28 58 0 0 1 0 0 KBTBD3 143879 broad.mit.edu 37 11 105929646 105929646 + Missense_Mutation SNP T T C TCGA-KK-A8IG-01A-11D-A364-08 TCGA-KK-A8IG-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 082edbc7-1c72-4487-8603-5f20dd332ac3 ab1b5fbe-db21-4790-94c3-f56579040952 g.chr11:105929646T>C ENST00000526793.1 - 2 338 c.179A>G c.(178-180)gAt>gGt p.D60G KBTBD3_ENST00000531837.1_Missense_Mutation_p.D60G|KBTBD3_ENST00000534815.1_Intron|KBTBD3_ENST00000531482.2_Missense_Mutation_p.D60G NM_152433.3 NP_689646.2 Q8NAB2 KBTB3_HUMAN kelch repeat and BTB (POZ) domain containing 3 56 BTB. NS(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(9)|lung(6)|ovary(1)|prostate(1) 25 Melanoma(852;0.000878)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0321) BRCA - Breast invasive adenocarcinoma(274;5.43e-05)|Epithelial(105;0.00418)|all cancers(92;0.0299) GATTATTTCATCTTTCATAAT 0.313000 16 38 0 0 1 0 0 CSMD3 114788 broad.mit.edu 37 8 113240989 113240989 + Missense_Mutation SNP G G T TCGA-KK-A8IG-01A-11D-A364-08 TCGA-KK-A8IG-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 082edbc7-1c72-4487-8603-5f20dd332ac3 ab1b5fbe-db21-4790-94c3-f56579040952 g.chr8:113240989G>T ENST00000297405.5 - 70 11204 c.10960C>A c.(10960-10962)Caa>Aaa p.Q3654K CSMD3_ENST00000343508.3_Missense_Mutation_p.Q3614K|CSMD3_ENST00000455883.2_Missense_Mutation_p.Q3485K|CSMD3_ENST00000352409.3_Missense_Mutation_p.Q3584K NM_198123.1 NP_937756.1 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 3654 integral to membrane|plasma membrane breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7) 646 GCTTACCTTTGTTTATAAAGA 0.294000 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 4 63 1 1 1 1 0 AC008103.5 0 broad.mit.edu 37 22 18844888 18844888 + RNA SNP A A G TCGA-KK-A8IG-01A-11D-A364-08 TCGA-KK-A8IG-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 082edbc7-1c72-4487-8603-5f20dd332ac3 ab1b5fbe-db21-4790-94c3-f56579040952 g.chr22:18844888A>G ENST00000412938.1 + 0 3138 GCTCACGGAAATACAGCTTCA 0.587000 4 43 0 0 1 0 0 ZNF518A 9849 broad.mit.edu 37 10 97917472 97917472 + RNA SNP C C G TCGA-KK-A8IG-01A-11D-A364-08 TCGA-KK-A8IG-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 082edbc7-1c72-4487-8603-5f20dd332ac3 ab1b5fbe-db21-4790-94c3-f56579040952 g.chr10:97917472C>G ENST00000534948.1 + 0 2250 Q6AHZ1 Z518A_HUMAN zinc finger protein 518A regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|urinary_tract(2) 24 Colorectal(252;0.0815) Epithelial(162;4.23e-08)|all cancers(201;1.85e-06) GCCTATCAAACAAAATGTATG 0.398000 27 56 0 0 1 0 0 ZNF793 390927 broad.mit.edu 37 19 38023375 38023375 + Missense_Mutation SNP G G A TCGA-KK-A8IG-01A-11D-A364-08 TCGA-KK-A8IG-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 082edbc7-1c72-4487-8603-5f20dd332ac3 ab1b5fbe-db21-4790-94c3-f56579040952 g.chr19:38023375G>A ENST00000445217.1 + 2 168 c.133G>A c.(133-135)Gtc>Atc p.V45I ZNF793_ENST00000588578.1_Missense_Mutation_p.V45I|ZNF793_ENST00000587986.1_Missense_Mutation_p.V45I|ZNF793_ENST00000587143.1_Missense_Mutation_p.V45I|ZNF793_ENST00000542455.1_Missense_Mutation_p.V45I|ZNF793_ENST00000589319.1_Missense_Mutation_p.V45I Q6ZN11 ZN793_HUMAN zinc finger protein 793 45 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding kidney(2)|lung(1) 3 COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) TAGCAACCTCGTCTCAGTGGG 0.507000 15 28 0 0 1 0 0 PNPLA7 375775 broad.mit.edu 37 9 140444626 140444626 + Missense_Mutation SNP G G C TCGA-KK-A8IG-01A-11D-A364-08 TCGA-KK-A8IG-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 082edbc7-1c72-4487-8603-5f20dd332ac3 ab1b5fbe-db21-4790-94c3-f56579040952 g.chr9:140444626G>C ENST00000406427.1 - 1 360 c.24C>G c.(22-24)agC>agG p.S8R PNPLA7_ENST00000277531.4_Missense_Mutation_p.S8R NM_001098537.1 NP_001092007.1 Q6ZV29 PLPL7_HUMAN patatin-like phospholipase domain containing 7 8 lipid metabolic process endoplasmic reticulum|integral to membrane|lysosomal membrane|microsome|mitochondrial membrane|nuclear membrane hydrolase activity breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 40 all_cancers(76;0.126) OV - Ovarian serous cystadenocarcinoma(145;0.000268)|Epithelial(140;0.000839) ATACCTGTGGGCTGTCATCTT 0.562000 25 47 0 0 1 0 0 TRBV7-4 0 broad.mit.edu 37 7 142176678 142176679 + RNA DEL CA CA - TCGA-KK-A8IG-01A-11D-A364-08 TCGA-KK-A8IG-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 082edbc7-1c72-4487-8603-5f20dd332ac3 ab1b5fbe-db21-4790-94c3-f56579040952 g.chr7:142176678_142176679delCA ENST00000390369.2 - 0 49 GTAGTCATCGCACACACACACA 0.460 7 80 --- --- --- --- RP11-179A10.1 0 broad.mit.edu 37 11 11158593 11158593 + RNA DEL A A - rs11303970 TCGA-KK-A8IG-01A-11D-A364-08 TCGA-KK-A8IG-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 082edbc7-1c72-4487-8603-5f20dd332ac3 ab1b5fbe-db21-4790-94c3-f56579040952 g.chr11:11158593delA ENST00000525758.1 + 0 108 aaaaaaaaagaaaaaaaaata 0.388 5 6 --- --- --- --- ATM 472 broad.mit.edu 37 11 108124735 108124736 + Frame_Shift_Del DEL CA CA - TCGA-KK-A8IG-01A-11D-A364-08 TCGA-KK-A8IG-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 082edbc7-1c72-4487-8603-5f20dd332ac3 ab1b5fbe-db21-4790-94c3-f56579040952 g.chr11:108124735_108124736delCA ENST00000278616.4 + 13 2478_2479 c.2093_2094delCA c.(2092-2094)tfs p.S698fs ATM_ENST00000452508.2_Frame_Shift_Del_p.S698fs NM_000051.3 NP_000042.3 Q13315 ATM_HUMAN ataxia telangiectasia mutated 698 cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence cytoplasmic membrane-bounded vesicle|nucleoplasm 1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding p.C693_Q700>E(1) NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 448 all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072) Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147) CTGGGATTATCAGAACAGCTTC 0.371 """D, Mis, N, F, S""" T-PLL """leukemia, lymphoma, medulloblastoma, glioma""" Genes defective in diseases associated with sensitivity to DNA damaging agents Ataxia Telangiectasia TSP Lung(14;0.12) 14 77 --- --- --- --- FOXA1 3169 broad.mit.edu 37 14 38061202 38061203 + Frame_Shift_Ins INS - - GCGGC TCGA-KK-A8IG-01A-11D-A364-08 TCGA-KK-A8IG-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 082edbc7-1c72-4487-8603-5f20dd332ac3 ab1b5fbe-db21-4790-94c3-f56579040952 g.chr14:38061202_38061203insGCGGC ENST00000250448.2 - 2 847_848 c.786_787insGCCGC c.(784-789)cgagaafs p.E263fs FOXA1_ENST00000545425.2_5'UTR|FOXA1_ENST00000540786.1_Frame_Shift_Ins_p.E230fs NM_004496.3 NP_004487.2 P55317 FOXA1_HUMAN forkhead box A1 263 chromatin remodeling|embryo development|epithelial cell maturation involved in prostate gland development|epithelial tube branching involved in lung morphogenesis|epithelial-mesenchymal signaling involved in prostate gland development|glucose homeostasis|lung epithelial cell differentiation|negative regulation of survival gene product expression|neuron fate specification|pattern specification process|positive regulation of estrogen receptor signaling pathway|positive regulation of mitotic cell cycle|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|prostate gland epithelium morphogenesis|prostate gland stromal morphogenesis|response to estradiol stimulus|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development transcription factor complex DNA bending activity|double-stranded DNA binding|protein domain specific binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|transcription regulatory region DNA binding breast(1)|endometrium(1)|large_intestine(2)|lung(3)|prostate(12) 19 Breast(36;0.0954)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213) Lung(238;5.41e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.0454)|LUSC - Lung squamous cell carcinoma(13;0.0917)|all cancers(34;0.0925)|BRCA - Breast invasive adenocarcinoma(188;0.239) GBM - Glioblastoma multiforme(112;0.0222) AAGCGCTTCTGGCGGCGCAAGT 0.713 5 8 --- --- --- --- EVPLL 645027 broad.mit.edu 37 17 18286659 18286659 + Frame_Shift_Del DEL G G - TCGA-KK-A8IG-01A-11D-A364-08 TCGA-KK-A8IG-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 082edbc7-1c72-4487-8603-5f20dd332ac3 ab1b5fbe-db21-4790-94c3-f56579040952 g.chr17:18286659delG ENST00000399134.4 + 8 1105 c.747delG c.(745-747)gtfs p.V249fs RP1-37N7.1_ENST00000579352.1_RNA NM_001145127.1 NP_001138599.1 A8MZ36 EVPLL_HUMAN envoplakin-like 249 NS(1)|endometrium(1)|large_intestine(1)|lung(2) 5 AGCGCATGGTGGAGCTGCGGC 0.711 2 4 --- --- --- --- ZNF185 7739 broad.mit.edu 37 X 152087570 152087572 + In_Frame_Del DEL GAG GAG - TCGA-KK-A8IG-01A-11D-A364-08 TCGA-KK-A8IG-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 082edbc7-1c72-4487-8603-5f20dd332ac3 ab1b5fbe-db21-4790-94c3-f56579040952 g.chrX:152087570_152087572delGAG ENST00000535861.1 + 7 523_525 c.475_477delGAG c.(475-477)del p.E165del ZNF185_ENST00000318504.7_In_Frame_Del_p.E165del|ZNF185_ENST00000324823.6_In_Frame_Del_p.E30del|ZNF185_ENST00000370268.4_In_Frame_Del_p.E165del|ZNF185_ENST00000370270.1_In_Frame_Del_p.E25del|ZNF185_ENST00000539731.1_In_Frame_Del_p.E165del|ZNF185_ENST00000318529.8_In_Frame_Del_p.E30del|ZNF185_ENST00000449285.2_In_Frame_Del_p.E165del NM_001178106.1 NP_001171577.1 O15231 ZN185_HUMAN zinc finger protein 185 (LIM domain) 165 Poly-Glu. cytoplasm|cytoskeleton|focal adhesion zinc ion binding NS(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(3) 12 Acute lymphoblastic leukemia(192;6.56e-05) AGGGGACACCgaggaggaggagg 0.596 4 6 --- --- --- ---