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 BIRC6 57448 broad.mit.edu 37 2 32693033 32693033 + Nonsense_Mutation SNP C C G TCGA-RW-A8AZ-01A-11D-A35D-08 TCGA-RW-A8AZ-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec9933fb-3414-4b9d-b130-f2bfac80bd56 6925a666-cb03-4e59-9a60-4246a41f30dd g.chr2:32693033C>G ENST00000421745.2 + 28 5768 c.5634C>G c.(5632-5634)taC>taG p.Y1878* NM_016252.3 NP_057336.3 Q9NR09 BIRC6_HUMAN baculoviral IAP repeat containing 6 1878 anti-apoptosis|apoptosis intracellular acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5) 172 Acute lymphoblastic leukemia(172;0.155) TAGGATTTTACTATGGTCATA 0.383000 14 15 0 0 1 0 0 IWS1 55677 broad.mit.edu 37 2 128262518 128262518 + Missense_Mutation SNP A A G TCGA-RW-A8AZ-01A-11D-A35D-08 TCGA-RW-A8AZ-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec9933fb-3414-4b9d-b130-f2bfac80bd56 6925a666-cb03-4e59-9a60-4246a41f30dd g.chr2:128262518A>G ENST00000295321.4 - 3 1220 c.961T>C c.(961-963)Tcc>Ccc p.S321P IWS1_ENST00000455721.2_Missense_Mutation_p.S328P|AC010976.2_ENST00000599001.1_RNA NM_017969.2 NP_060439.2 Q96ST2 IWS1_HUMAN IWS1 homolog (S. cerevisiae) 321 Glu-rich. transcription, DNA-dependent nucleus DNA binding cervix(1)|endometrium(2)|kidney(6)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 28 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.0735) TTGTGTCTGGACGCATCCTCA 0.517000 66 104 0 0 1 0 0 CCDC110 256309 broad.mit.edu 37 4 186379809 186379809 + Silent SNP A A G TCGA-RW-A8AZ-01A-11D-A35D-08 TCGA-RW-A8AZ-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec9933fb-3414-4b9d-b130-f2bfac80bd56 6925a666-cb03-4e59-9a60-4246a41f30dd g.chr4:186379809A>G ENST00000307588.3 - 6 2007 c.1932T>C c.(1930-1932)ctT>ctC p.L644L CCDC110_ENST00000393540.3_Silent_p.L607L|CCDC110_ENST00000510617.1_Silent_p.L644L NM_152775.3 NP_689988.1 Q8TBZ0 CC110_HUMAN coiled-coil domain containing 110 644 nucleus NS(1)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(9) 30 all_lung(41;1.3e-11)|Lung NSC(41;2.25e-11)|Melanoma(20;7.86e-05)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|Colorectal(36;0.0381)|all_hematologic(60;0.0749) OV - Ovarian serous cystadenocarcinoma(60;1.13e-10)|BRCA - Breast invasive adenocarcinoma(30;8.01e-05)|GBM - Glioblastoma multiforme(59;0.00014)|STAD - Stomach adenocarcinoma(60;0.000777)|LUSC - Lung squamous cell carcinoma(40;0.00921)|COAD - Colon adenocarcinoma(29;0.0105)|READ - Rectum adenocarcinoma(43;0.164) ATGTTGTTTCAAGGTTGAGTT 0.338000 7 68 0 0 1 0 0 SPHKAP 80309 broad.mit.edu 37 2 228882283 228882283 + Missense_Mutation SNP T T A TCGA-RW-A8AZ-01A-11D-A35D-08 TCGA-RW-A8AZ-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec9933fb-3414-4b9d-b130-f2bfac80bd56 6925a666-cb03-4e59-9a60-4246a41f30dd g.chr2:228882283T>A ENST00000392056.3 - 7 3333 c.3287A>T c.(3286-3288)tAt>tTt p.Y1096F SPHKAP_ENST00000344657.5_Missense_Mutation_p.Y1096F NM_001142644.1 NP_001136116.1 Q2M3C7 SPKAP_HUMAN SPHK1 interactor, AKAP domain containing 1096 cytoplasm protein binding NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 185 Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23) Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232) GCTGTTGACATAGGCCCTGGC 0.602000 5 40 0 0 1 0 0 YME1L1 10730 broad.mit.edu 37 10 27406652 27406652 + Silent SNP A A C TCGA-RW-A8AZ-01A-11D-A35D-08 TCGA-RW-A8AZ-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec9933fb-3414-4b9d-b130-f2bfac80bd56 6925a666-cb03-4e59-9a60-4246a41f30dd g.chr10:27406652A>C ENST00000326799.3 - 16 1891 c.1743T>G c.(1741-1743)ccT>ccG p.P581P YME1L1_ENST00000376016.3_Silent_p.P524P|YME1L1_ENST00000375972.3_Silent_p.P491P NM_139312.2 NP_647473.1 Q96TA2 YMEL1_HUMAN YME1-like 1 ATPase 581 protein catabolic process|proteolysis membrane|mitochondrion ATP binding|metal ion binding|metalloendopeptidase activity|nucleoside-triphosphatase activity breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 23 TTCTTCTTTCAGGCCCTAAGA 0.323000 22 39 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9000200 9000200 + Missense_Mutation SNP G G C TCGA-RW-A8AZ-01A-11D-A35D-08 TCGA-RW-A8AZ-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec9933fb-3414-4b9d-b130-f2bfac80bd56 6925a666-cb03-4e59-9a60-4246a41f30dd g.chr19:9000200G>C ENST00000397910.4 - 55 40760 c.40557C>G c.(40555-40557)ttC>ttG p.F13519L MUC16_ENST00000380951.5_Missense_Mutation_p.F160L NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 13521 SEA 10. Missing (in Ref. 3; AAK74120). 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 TGGTGTTCTTGAACACAGGCC 0.562000 26 53 0 0 1 0 0 ZNF687 57592 broad.mit.edu 37 1 151260658 151260658 + Missense_Mutation SNP C C T TCGA-RW-A8AZ-01A-11D-A35D-08 TCGA-RW-A8AZ-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec9933fb-3414-4b9d-b130-f2bfac80bd56 6925a666-cb03-4e59-9a60-4246a41f30dd g.chr1:151260658C>T ENST00000368879.2 + 2 1989 c.1891C>T c.(1891-1893)Cct>Tct p.P631S NM_020832.1 NP_065883.1 Q8N1G0 ZN687_HUMAN zinc finger protein 687 631 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleolus DNA binding|zinc ion binding breast(2)|central_nervous_system(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|ovary(1)|upper_aerodigestive_tract(2) 32 Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181) TCTGGCCTTGCCTGCCTTGGG 0.642000 23 53 0 0 1 0 0 BICD1 636 broad.mit.edu 37 12 32480574 32480574 + Missense_Mutation SNP G G C TCGA-RW-A8AZ-01A-11D-A35D-08 TCGA-RW-A8AZ-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec9933fb-3414-4b9d-b130-f2bfac80bd56 6925a666-cb03-4e59-9a60-4246a41f30dd g.chr12:32480574G>C ENST00000548411.1 + 5 1366 c.1185G>C c.(1183-1185)aaG>aaC p.K395N BICD1_ENST00000281474.5_Missense_Mutation_p.K395N NM_001003398.1 NP_001003398.1 Q96G01 BICD1_HUMAN bicaudal D homolog 1 (Drosophila) 395 anatomical structure morphogenesis|intracellular mRNA localization|microtubule anchoring at microtubule organizing center|minus-end-directed organelle transport along microtubule|positive regulation of receptor-mediated endocytosis|protein localization to organelle|RNA processing|stress granule assembly|viral reproduction cytoplasmic vesicle|cytoskeleton|cytosol|host cell viral assembly compartment|membrane|perinuclear region of cytoplasm|trans-Golgi network cytoskeletal adaptor activity|dynactin binding|dynein binding|proteinase activated receptor binding|Rab GTPase binding|structural constituent of cytoskeleton NS(1)|breast(2)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 46 all_cancers(9;5.13e-11)|all_epithelial(9;2.71e-11)|all_lung(12;6.66e-10)|Acute lymphoblastic leukemia(23;0.0122)|Lung SC(12;0.0213)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204) OV - Ovarian serous cystadenocarcinoma(6;0.0201) ACGGGGAGAAGGGCCGGGACT 0.577000 11 24 0 0 1 0 0 ZNF252P 286101 broad.mit.edu 37 8 146221048 146221048 + RNA SNP C C T TCGA-RW-A8AZ-01A-11D-A35D-08 TCGA-RW-A8AZ-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec9933fb-3414-4b9d-b130-f2bfac80bd56 6925a666-cb03-4e59-9a60-4246a41f30dd g.chr8:146221048C>T ENST00000426361.2 - 0 245 NR_023392.1 endometrium(1) 1 GCTTTCTTGCCAGAAATGATC 0.498000 3 0 0 0 1 0 0 TRIM17 51127 broad.mit.edu 37 1 228596255 228596255 + Missense_Mutation SNP C C A TCGA-RW-A8AZ-01A-11D-A35D-08 TCGA-RW-A8AZ-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec9933fb-3414-4b9d-b130-f2bfac80bd56 6925a666-cb03-4e59-9a60-4246a41f30dd g.chr1:228596255C>A ENST00000366697.2 - 6 2037 c.1081G>T c.(1081-1083)Ggg>Tgg p.G361W TRIM17_ENST00000295033.3_Missense_Mutation_p.G361W|RP11-245P10.4_ENST00000436779.1_RNA|TRIM17_ENST00000366698.2_Missense_Mutation_p.G361W Q9Y577 TRI17_HUMAN tripartite motif containing 17 361 B30.2/SPRY. protein autoubiquitination intracellular protein binding|ubiquitin-protein ligase activity|zinc ion binding NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1) 10 Prostate(94;0.0724) AACGCGTCCCCGGTGATGTTC 0.627000 17 32 9.16793e-09 9.69181e-09 1 1 0 WT1 7490 broad.mit.edu 37 11 32450088 32450088 + Missense_Mutation SNP G G T TCGA-RW-A8AZ-01A-11D-A35D-08 TCGA-RW-A8AZ-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec9933fb-3414-4b9d-b130-f2bfac80bd56 6925a666-cb03-4e59-9a60-4246a41f30dd g.chr11:32450088G>T ENST00000332351.3 - 2 1008 c.724C>A c.(724-726)Cac>Aac p.H242N WT1_ENST00000448076.3_Missense_Mutation_p.H242N|WT1_ENST00000379079.2_Missense_Mutation_p.H30N|WT1_ENST00000530998.1_Missense_Mutation_p.H30N NM_024424.3|NM_024426.4 NP_077742.2|NP_077744.3 P19544 WT1_HUMAN Wilms tumor 1 174 adrenal cortex formation|branching involved in ureteric bud morphogenesis|camera-type eye development|cardiac muscle cell fate commitment|cellular response to cAMP|cellular response to gonadotropin stimulus|germ cell development|glomerular basement membrane development|glomerular visceral epithelial cell differentiation|induction of apoptosis|male genitalia development|male gonad development|mesenchymal to epithelial transition|metanephric epithelium development|metanephric S-shaped body morphogenesis|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of female gonad development|negative regulation of metanephric glomerular mesangial cell proliferation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|negative regulation of translation|positive regulation of male gonad development|positive regulation of transcription, DNA-dependent|posterior mesonephric tubule development|regulation of organ formation|RNA splicing|sex determination|vasculogenesis|visceral serous pericardium development cytoplasm|nuclear speck|nucleoplasm C2H2 zinc finger domain binding|RNA binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding p.?(1) EWSR1/WT1(234) NS(1)|haematopoietic_and_lymphoid_tissue(348)|kidney(149)|large_intestine(9)|lung(20)|peritoneum(1)|pleura(2)|skin(2)|upper_aerodigestive_tract(1) 533 Breast(20;0.247) OV - Ovarian serous cystadenocarcinoma(30;0.128) TTGAATGAGTGGTTGGGGAAC 0.632000 """D, Mis, N, F, S""" EWSR1 """Wilms, desmoplastic small round cell tumor""" Wilms Wilms' tumor-Aniridia-ambiguous Genitals-mental Retardation;Frasier syndrome;Familial Wilms' tumor;Denys-Drash syndrome 6 15 0.00198382 0.00198382 1 1 0 CDK5RAP1 51654 broad.mit.edu 37 20 31984647 31984647 + Missense_Mutation SNP G G A TCGA-RW-A8AZ-01A-11D-A35D-08 TCGA-RW-A8AZ-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec9933fb-3414-4b9d-b130-f2bfac80bd56 6925a666-cb03-4e59-9a60-4246a41f30dd g.chr20:31984647G>A ENST00000357886.4 - 2 377 c.224C>T c.(223-225)cCt>cTt p.P75L CDK5RAP1_ENST00000346416.2_Missense_Mutation_p.P75L|CDK5RAP1_ENST00000544843.1_Missense_Mutation_p.P75L|CDK5RAP1_ENST00000452723.3_5'UTR|CDK5RAP1_ENST00000339269.5_Missense_Mutation_p.P75L|CDK5RAP1_ENST00000473997.1_5'UTR Q96SZ6 CK5P1_HUMAN CDK5 regulatory subunit associated protein 1 75 CDK5 activation inhibition. brain development|negative regulation of cyclin-dependent protein kinase activity|regulation of neuron differentiation|tRNA modification cytoplasm 4 iron, 4 sulfur cluster binding|metal ion binding|neuronal Cdc2-like kinase binding|transferase activity endometrium(2)|kidney(2)|large_intestine(3)|lung(12)|ovary(3)|skin(3)|urinary_tract(1) 26 CTTCTCCTGAGGAGCTGAGGC 0.493000 48 64 0 0 1 0 0 PRKAR1A 5573 broad.mit.edu 37 17 66521051 66521051 + Splice_Site SNP A A G TCGA-RW-A8AZ-01A-11D-A35D-08 TCGA-RW-A8AZ-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec9933fb-3414-4b9d-b130-f2bfac80bd56 6925a666-cb03-4e59-9a60-4246a41f30dd g.chr17:66521051A>G ENST00000589228.1 + 6 630 c.e6-1 PRKAR1A_ENST00000358598.2_Splice_Site|PRKAR1A_ENST00000586397.1_Splice_Site|PRKAR1A_ENST00000392711.1_Splice_Site|PRKAR1A_ENST00000536854.2_Splice_Site|PRKAR1A_ENST00000588188.2_Splice_Site NM_001276289.1|NM_001278433.1 NP_001263218.1|NP_001265362.1 P10644 KAP0_HUMAN protein kinase, cAMP-dependent, regulatory, type I, alpha activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|intracellular signal transduction|nerve growth factor receptor signaling pathway|regulation of insulin secretion|regulation of transcription from RNA polymerase II promoter|transmembrane transport|water transport cAMP-dependent protein kinase complex|cytosol cAMP binding|cAMP-dependent protein kinase regulator activity|protein binding adrenal_gland(4)|breast(2)|endometrium(1)|kidney(1)|large_intestine(5)|liver(2)|lung(8)|soft_tissue(2)|stomach(2)|testis(1)|thyroid(2)|upper_aerodigestive_tract(1) 31 Breast(10;1.64e-13) ACCCTCTTTTAGGTGATGAAG 0.289000 """T, Mis, N, F, S""" RET papillary thyroid """myxoma, endocrine, papillary thyroid""" Primary Pigmented Nodular Adrenocortical Disease, Familial;Carney Complex;Cardiac Myxomas, Familial Clustering of 56 95 0 0 1 0 0 EPHA3 2042 broad.mit.edu 37 3 89478273 89478273 + Missense_Mutation SNP G G A TCGA-RW-A8AZ-01A-11D-A35D-08 TCGA-RW-A8AZ-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec9933fb-3414-4b9d-b130-f2bfac80bd56 6925a666-cb03-4e59-9a60-4246a41f30dd g.chr3:89478273G>A ENST00000336596.2 + 12 2317 c.2092G>A c.(2092-2094)Gtc>Atc p.V698I EPHA3_ENST00000494014.1_Missense_Mutation_p.V698I NM_005233.5 NP_005224.2 P29320 EPHA3_HUMAN EPH receptor A3 698 Protein kinase. extracellular region|integral to plasma membrane ATP binding NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5) 139 all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612) Lung NSC(201;0.0782) LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942) AGTTATGATTGTCACAGAATA 0.294000 TSP Lung(6;0.00050) 36 57 0 0 1 0 0 COL12A1 1303 broad.mit.edu 37 6 75893251 75893251 + Missense_Mutation SNP C C A TCGA-RW-A8AZ-01A-11D-A35D-08 TCGA-RW-A8AZ-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec9933fb-3414-4b9d-b130-f2bfac80bd56 6925a666-cb03-4e59-9a60-4246a41f30dd g.chr6:75893251C>A ENST00000322507.8 - 10 1715 c.1406G>T c.(1405-1407)aGt>aTt p.S469I COL12A1_ENST00000483888.2_Missense_Mutation_p.S469I|COL12A1_ENST00000345356.6_Intron|COL12A1_ENST00000416123.2_Missense_Mutation_p.S469I NM_004370.5 NP_004361.3 Q99715 COCA1_HUMAN collagen, type XII, alpha 1 469 VWFA 2. cell adhesion|collagen fibril organization|skeletal system development collagen type XII|extracellular space extracellular matrix structural constituent conferring tensile strength p.S469I(1) breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2) 169 AATTTCAAAACTTTTTACAAG 0.358000 36 52 4.34311e-12 4.72632e-12 1 1 0 FAM86DP 692099 broad.mit.edu 37 3 75475709 75475709 + RNA SNP T T C TCGA-RW-A8AZ-01A-11D-A35D-08 TCGA-RW-A8AZ-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec9933fb-3414-4b9d-b130-f2bfac80bd56 6925a666-cb03-4e59-9a60-4246a41f30dd g.chr3:75475709T>C ENST00000459803.1 - 0 820 NR_024241.1 p.I261V(1) CTCCGCAGGATCCCGACCAGC 0.562000 4 53 0 0 1 0 0 URM1 81605 broad.mit.edu 37 9 131140374 131140374 + Missense_Mutation SNP A A T TCGA-RW-A8AZ-01A-11D-A35D-08 TCGA-RW-A8AZ-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec9933fb-3414-4b9d-b130-f2bfac80bd56 6925a666-cb03-4e59-9a60-4246a41f30dd g.chr9:131140374A>T ENST00000372850.1 + 2 115 c.95A>T c.(94-96)cAg>cTg p.Q32L URM1_ENST00000372853.4_Missense_Mutation_p.Q32L|URM1_ENST00000372847.1_Missense_Mutation_p.R46W|URM1_ENST00000483206.1_3'UTR|URM1_ENST00000452446.1_Missense_Mutation_p.Q32L Q9BTM9 URM1_HUMAN ubiquitin related modifier 1 32 tRNA thio-modification|tRNA wobble uridine modification protein binding cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(1) 5 TTGCCTGGACAGGAGGAACCC 0.537000 18 37 0 0 1 0 0 FAT1 2195 broad.mit.edu 37 4 187521348 187521348 + Missense_Mutation SNP G G T TCGA-RW-A8AZ-01A-11D-A35D-08 TCGA-RW-A8AZ-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec9933fb-3414-4b9d-b130-f2bfac80bd56 6925a666-cb03-4e59-9a60-4246a41f30dd g.chr4:187521348G>T ENST00000441802.2 - 22 12016 c.11807C>A c.(11806-11808)aCa>aAa p.T3936K NM_005245.3 NP_005236.2 Q14517 FAT1_HUMAN FAT atypical cadherin 1 3936 Laminin G-like. actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm calcium ion binding|protein binding NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4) 228 CCCTGGGGCTGTGCCCGATGC 0.512000 HNSCC(5;0.00058) 14 21 0.00185496 0.00190648 1 1 0 ABCA2 20 broad.mit.edu 37 9 139911685 139911685 + Missense_Mutation SNP G G A TCGA-RW-A8AZ-01A-11D-A35D-08 TCGA-RW-A8AZ-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec9933fb-3414-4b9d-b130-f2bfac80bd56 6925a666-cb03-4e59-9a60-4246a41f30dd g.chr9:139911685G>A ENST00000265662.5 - 18 2663 c.2516C>T c.(2515-2517)gCg>gTg p.A839V ABCA2_ENST00000341511.6_Missense_Mutation_p.A839V|ABCA2_ENST00000371605.3_Missense_Mutation_p.A838V Q9BZC7 ABCA2_HUMAN ATP-binding cassette, sub-family A (ABC1), member 2 838 cholesterol homeostasis|lipid metabolic process|regulation of intracellular cholesterol transport|regulation of transcription from RNA polymerase II promoter|response to drug|response to steroid hormone stimulus ATP-binding cassette (ABC) transporter complex|cytoplasmic membrane-bounded vesicle|endosome|integral to membrane|microtubule organizing center ATP binding|ATPase activity, coupled to transmembrane movement of substances central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|liver(1)|lung(25)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1) 41 all_cancers(76;0.16) Myeloproliferative disorder(178;0.0511) STAD - Stomach adenocarcinoma(284;0.123) OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048) CTTATCATGCGCCACCTCCTC 0.652000 28 26 0 0 1 0 0 R3HDML 140902 broad.mit.edu 37 20 42965958 42965958 + Missense_Mutation SNP G G A TCGA-RW-A8AZ-01A-11D-A35D-08 TCGA-RW-A8AZ-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec9933fb-3414-4b9d-b130-f2bfac80bd56 6925a666-cb03-4e59-9a60-4246a41f30dd g.chr20:42965958G>A ENST00000217043.2 + 1 333 c.161G>A c.(160-162)cGg>cAg p.R54Q NM_178491.2 NP_848586.1 Q9H3Y0 CRSPL_HUMAN R3H domain containing-like 54 extracellular region peptidase inhibitor activity NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(14) 21 Myeloproliferative disorder(115;0.028) COAD - Colon adenocarcinoma(18;0.00189) AGGTACCGCCGGAAGCGCCAC 0.592000 25 28 0 0 1 0 0 ATP2A1 487 broad.mit.edu 37 16 28909760 28909760 + Silent SNP C C T TCGA-RW-A8AZ-01A-11D-A35D-08 TCGA-RW-A8AZ-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec9933fb-3414-4b9d-b130-f2bfac80bd56 6925a666-cb03-4e59-9a60-4246a41f30dd g.chr16:28909760C>T ENST00000395503.4 + 14 1936 c.1752C>T c.(1750-1752)ttC>ttT p.F584F ATP2A1_ENST00000357084.3_Silent_p.F584F|ATP2A1_ENST00000536376.1_Silent_p.F459F NM_004320.4 NP_004311.1 O14983 AT2A1_HUMAN ATPase, Ca++ transporting, cardiac muscle, fast twitch 1 584 apoptosis in response to endoplasmic reticulum stress|apoptotic mitochondrial changes|ATP biosynthetic process|calcium ion import|elevation of endoplasmic reticulum calcium ion concentration|elevation of mitochondrial calcium ion concentration|maintenance of mitochondrion location|negative regulation of striated muscle contraction|platelet activation|positive regulation of fast-twitch skeletal muscle fiber contraction|reduction of endoplasmic reticulum calcium ion concentration|relaxation of skeletal muscle|response to endoplasmic reticulum stress endoplasmic reticulum membrane|ER-Golgi intermediate compartment|H zone|I band|microsome|perinuclear region of cytoplasm|platelet dense tubular network membrane|sarcoplasmic reticulum|sarcoplasmic reticulum membrane ATP binding|calcium ion binding|calcium-transporting ATPase activity|protein homodimerization activity breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(2) 38 CTGCCAGGTTCCTGGAGTATG 0.652000 5 26 0 0 1 0 0 TMEM8B 51754 broad.mit.edu 37 9 35853200 35853200 + Silent SNP C C G TCGA-RW-A8AZ-01A-11D-A35D-08 TCGA-RW-A8AZ-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec9933fb-3414-4b9d-b130-f2bfac80bd56 6925a666-cb03-4e59-9a60-4246a41f30dd g.chr9:35853200C>G ENST00000377988.2 + 12 2317 c.1029C>G c.(1027-1029)ctC>ctG p.L343L TMEM8B_ENST00000377991.4_Silent_p.L343L NM_001042590.2 NP_001036055.1 A6NDV4 TMM8B_HUMAN transmembrane protein 8B 343 cell-matrix adhesion|regulation of growth|regulation of mitotic cell cycle cell surface|endoplasmic reticulum|integral to membrane|mitochondrion|nucleus|plasma membrane protein binding breast(1)|endometrium(2)|large_intestine(2)|lung(1)|ovary(1) 7 GACATGGACTCTGGAACCTGC 0.607000 59 79 0 0 1 0 0 NRROS 375387 broad.mit.edu 37 3 196387237 196387237 + Silent SNP C C T TCGA-RW-A8AZ-01A-11D-A35D-08 TCGA-RW-A8AZ-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec9933fb-3414-4b9d-b130-f2bfac80bd56 6925a666-cb03-4e59-9a60-4246a41f30dd g.chr3:196387237C>T ENST00000328557.4 + 3 926 c.723C>T c.(721-723)ttC>ttT p.F241F NM_198565.1 NP_940967.1 negative regulator of reactive oxygen species TGGAGTGGTTCCTCGCGACCG 0.632000 19 27 0 0 1 0 0 CNTNAP3 79937 broad.mit.edu 37 9 39118252 39118252 + Silent SNP T T C TCGA-RW-A8AZ-01A-11D-A35D-08 TCGA-RW-A8AZ-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec9933fb-3414-4b9d-b130-f2bfac80bd56 6925a666-cb03-4e59-9a60-4246a41f30dd g.chr9:39118252T>C ENST00000297668.6 - 14 2158 c.2085A>G c.(2083-2085)ggA>ggG p.G695G CNTNAP3_ENST00000323947.7_Silent_p.G601G|CNTNAP3_ENST00000377656.2_Silent_p.G694G|CNTNAP3_ENST00000377659.1_Silent_p.G694G|CNTNAP3_ENST00000358144.2_Silent_p.G607G NM_033655.3 NP_387504.2 Q9BZ76 CNTP3_HUMAN contactin associated protein-like 3 695 Fibrinogen C-terminal. cell adhesion|cell recognition|signal transduction extracellular region|integral to membrane|plasma membrane receptor binding breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(2) 24 GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681) TCAGTGGGGTTCCATCTGAAA 0.473000 38 63 0 0 1 0 0 DUOX2 50506 broad.mit.edu 37 15 45386413 45386413 + Missense_Mutation SNP T T C TCGA-RW-A8AZ-01A-11D-A35D-08 TCGA-RW-A8AZ-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec9933fb-3414-4b9d-b130-f2bfac80bd56 6925a666-cb03-4e59-9a60-4246a41f30dd g.chr15:45386413T>C ENST00000389039.6 - 34 4967 c.4582A>G c.(4582-4584)Aag>Gag p.K1528E DUOX2_ENST00000603300.1_Missense_Mutation_p.K1528E Q9NRD8 DUOX2_HUMAN dual oxidase 2 1528 cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|response to virus apical plasma membrane|integral to membrane calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|peroxidase activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1) 63 all_cancers(109;3.79e-11)|all_epithelial(112;2.92e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027) all cancers(107;1.05e-18)|GBM - Glioblastoma multiforme(94;4.23e-07)|COAD - Colon adenocarcinoma(120;0.0668)|Colorectal(133;0.068) TGACAGGCCTTCTCTACATTC 0.577000 10 20 0 0 1 0 0 FOXI2 399823 broad.mit.edu 37 10 129537028 129537028 + Missense_Mutation SNP G G A TCGA-RW-A8AZ-01A-11D-A35D-08 TCGA-RW-A8AZ-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec9933fb-3414-4b9d-b130-f2bfac80bd56 6925a666-cb03-4e59-9a60-4246a41f30dd g.chr10:129537028G>A ENST00000388920.4 + 2 795 c.756G>A c.(754-756)atG>atA p.M252I NM_207426.2 NP_997309.2 Q6ZQN5 FOXI2_HUMAN forkhead box I2 252 epidermal cell fate specification|otic placode formation|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|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 large_intestine(1)|lung(3) 4 all_epithelial(44;0.0021)|all_lung(145;0.0586)|Lung NSC(174;0.0765)|all_neural(114;0.201)|Glioma(114;0.222) CTTCTGCTATGAGCGCTCTGG 0.711000 6 7 0 0 1 0 0 KLF12 11278 broad.mit.edu 37 13 74339086 74339086 + Silent SNP T T C TCGA-RW-A8AZ-01A-11D-A35D-08 TCGA-RW-A8AZ-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec9933fb-3414-4b9d-b130-f2bfac80bd56 6925a666-cb03-4e59-9a60-4246a41f30dd g.chr13:74339086T>C ENST00000377669.2 - 5 884 c.858A>G c.(856-858)caA>caG p.Q286Q KLF12_ENST00000377666.4_Silent_p.Q286Q NM_007249.4 NP_009180.3 Q9Y4X4 KLF12_HUMAN Kruppel-like factor 12 286 negative regulation of transcription from RNA polymerase II promoter nucleus DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding central_nervous_system(1)|endometrium(5)|large_intestine(2)|lung(6)|ovary(1)|skin(1) 16 Prostate(6;0.00217)|Breast(118;0.0838) GBM - Glioblastoma multiforme(99;0.00677) aaggaaacttttgattattca 0.373000 58 88 0 0 1 0 0 MAML3 55534 broad.mit.edu 37 4 140641376 140641376 + Missense_Mutation SNP G G A TCGA-RW-A8AZ-01A-11D-A35D-08 TCGA-RW-A8AZ-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec9933fb-3414-4b9d-b130-f2bfac80bd56 6925a666-cb03-4e59-9a60-4246a41f30dd g.chr4:140641376G>A ENST00000509479.2 - 5 3374 c.2518C>T c.(2518-2520)Ccc>Tcc p.P840S MGST2_ENST00000515137.1_Intron NM_018717.4 NP_061187.2 Q96JK9 MAML3_HUMAN mastermind-like 3 (Drosophila) 836 Gln-rich. Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nuclear speck transcription coactivator activity breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2) 25 all_hematologic(180;0.162) TTCTGGGAGGGTCCTATTCCC 0.592000 71 107 0 0 1 0 0 LOC645752 645752 broad.mit.edu 37 15 78212618 78212618 + RNA SNP A A G TCGA-RW-A8AZ-01A-11D-A35D-08 TCGA-RW-A8AZ-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec9933fb-3414-4b9d-b130-f2bfac80bd56 6925a666-cb03-4e59-9a60-4246a41f30dd g.chr15:78212618A>G ENST00000565869.1 + 0 111 RP11-114H24.2_ENST00000567226.1_RNA TGTAACCGCCACTGGAGGACC 0.562000 3 53 0 0 1 0 0 SHISA3 152573 broad.mit.edu 37 4 42403414 42403414 + Silent SNP C C G TCGA-RW-A8AZ-01A-11D-A35D-08 TCGA-RW-A8AZ-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec9933fb-3414-4b9d-b130-f2bfac80bd56 6925a666-cb03-4e59-9a60-4246a41f30dd g.chr4:42403414C>G ENST00000319234.4 + 2 881 c.663C>G c.(661-663)ctC>ctG p.L221L NM_001080505.1 NP_001073974.1 A0PJX4 SHSA3_HUMAN shisa family member 3 221 multicellular organismal development endoplasmic reticulum membrane|integral to membrane endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(2) 12 CTTACCCCCTCCAGCAGGAGC 0.597000 12 41 0 0 1 0 0 CECR5 27440 broad.mit.edu 37 22 17619599 17619599 + Missense_Mutation SNP A A G TCGA-RW-A8AZ-01A-11D-A35D-08 TCGA-RW-A8AZ-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec9933fb-3414-4b9d-b130-f2bfac80bd56 6925a666-cb03-4e59-9a60-4246a41f30dd g.chr22:17619599A>G ENST00000336737.4 - 7 801 c.776T>C c.(775-777)cTg>cCg p.L259P CECR5_ENST00000399852.3_Intron|CECR5_ENST00000155674.5_Missense_Mutation_p.L229P NM_033070.2 NP_149061.1 Q9BXW7 CECR5_HUMAN cat eye syndrome chromosome region, candidate 5 259 hydrolase activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|liver(1)|lung(10)|pancreas(1)|prostate(1) 21 all_epithelial(15;0.0181)|Lung NSC(13;0.109)|all_lung(157;0.132) AATGGTTTCCAGGCACAGCAG 0.542000 56 92 0 0 1 0 0 KLHL36 79786 broad.mit.edu 37 16 84693464 84693464 + Silent SNP T T A TCGA-RW-A8AZ-01A-11D-A35D-08 TCGA-RW-A8AZ-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec9933fb-3414-4b9d-b130-f2bfac80bd56 6925a666-cb03-4e59-9a60-4246a41f30dd g.chr16:84693464T>A ENST00000564996.1 + 4 1377 c.1236T>A c.(1234-1236)tcT>tcA p.S412S KLHL36_ENST00000258157.5_Intron NM_024731.2 NP_079007.2 Q8N4N3 KLH36_HUMAN kelch-like family member 36 412 endometrium(3)|large_intestine(1)|lung(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 13 GAGCGCTCTCTTCAGTAGAGA 0.572000 28 52 0 0 1 0 0 DVL2 1856 broad.mit.edu 37 17 7129360 7129360 + Missense_Mutation SNP G G A rs147610025 TCGA-RW-A8AZ-01A-11D-A35D-08 TCGA-RW-A8AZ-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec9933fb-3414-4b9d-b130-f2bfac80bd56 6925a666-cb03-4e59-9a60-4246a41f30dd g.chr17:7129360G>A ENST00000005340.5 - 15 2317 c.2035C>T c.(2035-2037)Ccc>Tcc p.P679S DVL2_ENST00000575458.1_Missense_Mutation_p.P673S NM_004422.2 NP_004413.1 O14641 DVL2_HUMAN dishevelled segment polarity protein 2 679 canonical Wnt receptor signaling pathway involved in regulation of cell proliferation|intracellular signal transduction|neural tube closure|positive regulation of JUN kinase activity|positive regulation of protein phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|segment specification|transcription from RNA polymerase II promoter cytosol|nucleus|plasma membrane frizzled binding|identical protein binding|signal transducer activity breast(2)|endometrium(3)|kidney(1)|large_intestine(11)|lung(7)|skin(1) 25 ACCATCATGGGGTTGTAGGGG 0.672000 19 26 0 0 1 0 0 HSPA1L 3305 broad.mit.edu 37 6 31777995 31777995 + Silent SNP G G A TCGA-RW-A8AZ-01A-11D-A35D-08 TCGA-RW-A8AZ-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec9933fb-3414-4b9d-b130-f2bfac80bd56 6925a666-cb03-4e59-9a60-4246a41f30dd g.chr6:31777995G>A ENST00000375654.4 - 2 1944 c.1755C>T c.(1753-1755)gtC>gtT p.V585V HSPA1L_ENST00000417199.3_Silent_p.V585V NM_005527.3 NP_005518.3 P34931 HS71L_HUMAN heat shock 70kDa protein 1-like 585 response to unfolded protein ATP binding breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(10)|ovary(3)|pleura(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 34 CCAGTTGATTGACCTCCAGCC 0.408000 4 131 0 0 1 0 0 LINC01250 101927554 broad.mit.edu 37 2 2910722 2910723 + RNA INS - - T TCGA-RW-A8AZ-01A-11D-A35D-08 TCGA-RW-A8AZ-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec9933fb-3414-4b9d-b130-f2bfac80bd56 6925a666-cb03-4e59-9a60-4246a41f30dd g.chr2:2910722_2910723insT ENST00000457478.1 - 0 594 tccaccccctctccccagccca 0.708 3 3 --- --- --- --- SOHLH1 402381 broad.mit.edu 37 9 138586951 138586951 + Frame_Shift_Del DEL C C - TCGA-RW-A8AZ-01A-11D-A35D-08 TCGA-RW-A8AZ-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec9933fb-3414-4b9d-b130-f2bfac80bd56 6925a666-cb03-4e59-9a60-4246a41f30dd g.chr9:138586951delC ENST00000298466.5 - 6 880 c.820delG c.(820-822)ctfs p.A275fs SOHLH1_ENST00000425225.1_Frame_Shift_Del_p.A275fs NM_001012415.2 NP_001012415.2 Q5JUK2 SOLH1_HUMAN spermatogenesis and oogenesis specific basic helix-loop-helix 1 275 cell differentiation|multicellular organismal development|oogenesis|regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent cytoplasm|nucleus DNA binding breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(1)|lung(5)|prostate(1) 12 Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;1.66e-07)|Epithelial(140;1.11e-06)|all cancers(34;6.45e-05) AGAGGTGCAGCCCCCATGGCC 0.711 2 4 --- --- --- --- DHX37 57647 broad.mit.edu 37 12 125465270 125465272 + In_Frame_Del DEL CTC CTC - TCGA-RW-A8AZ-01A-11D-A35D-08 TCGA-RW-A8AZ-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec9933fb-3414-4b9d-b130-f2bfac80bd56 6925a666-cb03-4e59-9a60-4246a41f30dd g.chr12:125465270_125465272delCTC ENST00000308736.2 - 4 600_602 c.502_504delGAG c.(502-504)del p.E168del NM_032656.3 NP_116045.2 Q8IY37 DHX37_HUMAN DEAH (Asp-Glu-Ala-His) box polypeptide 37 168 ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding p.E168delE(3) breast(5)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(11)|liver(1)|lung(27)|ovary(1)|prostate(2)|skin(3) 65 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;8.05e-05)|Epithelial(86;0.000486)|all cancers(50;0.00653) CCGATTCCGActcctcctcctcc 0.690 4 6 --- --- --- --- PAPOLA 10914 broad.mit.edu 37 14 97022548 97022548 + Frame_Shift_Del DEL A A - TCGA-RW-A8AZ-01A-11D-A35D-08 TCGA-RW-A8AZ-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec9933fb-3414-4b9d-b130-f2bfac80bd56 6925a666-cb03-4e59-9a60-4246a41f30dd g.chr14:97022548delA ENST00000216277.8 + 19 2022 c.1802delA c.(1801-1803)cafs p.Q601fs PAPOLA_ENST00000392990.2_Frame_Shift_Del_p.Q601fs NM_032632.4 NP_116021.2 P51003 PAPOA_HUMAN poly(A) polymerase alpha 601 Ser/Thr-rich. mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription cytoplasm|nucleoplasm ATP binding|magnesium ion binding|manganese ion binding|polynucleotide adenylyltransferase activity|RNA binding breast(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(6)|skin(1)|urinary_tract(1) 21 all_cancers(154;0.0555)|all_epithelial(191;0.149)|Melanoma(154;0.155) COAD - Colon adenocarcinoma(157;0.213) ACTGCCACACAACCAGCCATT 0.408 91 131 --- --- --- --- ATRX 546 broad.mit.edu 37 X 76937831 76937834 + Frame_Shift_Del DEL GGTC GGTC - TCGA-RW-A8AZ-01A-11D-A35D-08 TCGA-RW-A8AZ-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec9933fb-3414-4b9d-b130-f2bfac80bd56 6925a666-cb03-4e59-9a60-4246a41f30dd g.chrX:76937831_76937834delGGTC ENST00000373344.5 - 9 3128_3131 c.2914_2917delGACC c.(2914-2919)agfs p.DQ972fs ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Frame_Shift_Del_p.DQ934fs NM_000489.3 NP_000480.2 P46100 ATRX_HUMAN alpha thalassemia/mental retardation syndrome X-linked 972 DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent nuclear heterochromatin ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding p.?(1) bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 145 Phosphatidylserine(DB00144) TCATCGCTCTGGTCTTTCTTTAGG 0.328 """Mis, F, N""" """Pancreatic neuroendocrine tumors, paediatric GBM""" ATR-X (alpha thalassemia/mental retardation) syndrome 179 37 --- --- --- ---