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 UGGT2 55757 broad.mit.edu 37 13 96546858 96546858 + Missense_Mutation SNP C C T TCGA-E1-A7Z3-01A-11D-A34J-08 TCGA-E1-A7Z3-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c7e93c7-09b0-4f5e-8e50-5485a1572fc1 cecdfd71-e1b1-4c90-a72d-c6770c44f2b5 g.chr13:96546858C>T ENST00000376747.3 - 24 2883 c.2813G>A c.(2812-2814)cGt>cAt p.R938H NM_020121.3 NP_064506.3 Q9NYU1 UGGG2_HUMAN UDP-glucose glycoprotein glucosyltransferase 2 938 post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine endoplasmic reticulum lumen|ER-Golgi intermediate compartment UDP-glucose:glycoprotein glucosyltransferase activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(17)|lung(20)|ovary(3)|pancreas(1)|prostate(4)|urinary_tract(2) 60 TCGAGATGCACGCTTAGGCAC 0.358000 4 147 0 0 1 0 0 UNC79 57578 broad.mit.edu 37 14 94039083 94039083 + Missense_Mutation SNP A A G TCGA-E1-A7Z3-01A-11D-A34J-08 TCGA-E1-A7Z3-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c7e93c7-09b0-4f5e-8e50-5485a1572fc1 cecdfd71-e1b1-4c90-a72d-c6770c44f2b5 g.chr14:94039083A>G ENST00000553484.1 + 16 2145 c.1991A>G c.(1990-1992)gAg>gGg p.E664G UNC79_ENST00000256339.4_Missense_Mutation_p.E487G|UNC79_ENST00000393151.2_Missense_Mutation_p.E664G|UNC79_ENST00000555664.1_Missense_Mutation_p.E664G Q9P2D8 UNC79_HUMAN unc-79 homolog (C. elegans) 664 integral to membrane breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4) 118 TTCTCAATGGAGGAGATGTTT 0.413000 13 167 0 0 1 0 0 TRIP11 9321 broad.mit.edu 37 14 92466345 92466345 + Silent SNP T T C TCGA-E1-A7Z3-01A-11D-A34J-08 TCGA-E1-A7Z3-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c7e93c7-09b0-4f5e-8e50-5485a1572fc1 cecdfd71-e1b1-4c90-a72d-c6770c44f2b5 g.chr14:92466345T>C ENST00000267622.4 - 12 5038 c.4665A>G c.(4663-4665)caA>caG p.Q1555Q NM_004239.3 NP_004230.2 Q15643 TRIPB_HUMAN thyroid hormone receptor interactor 11 1555 transcription from RNA polymerase II promoter cytoskeleton|Golgi apparatus|membrane|nucleus protein binding|transcription coactivator activity breast(3)|central_nervous_system(2)|endometrium(1)|kidney(8)|large_intestine(12)|lung(17)|ovary(7)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 58 COAD - Colon adenocarcinoma(157;0.223) CCATTTGTTTTTGTTTCAGGG 0.338000 T PDGFRB AML 7 81 0 0 1 0 0 APOB 338 broad.mit.edu 37 2 21228654 21228654 + Missense_Mutation SNP T T C TCGA-E1-A7Z3-01A-11D-A34J-08 TCGA-E1-A7Z3-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c7e93c7-09b0-4f5e-8e50-5485a1572fc1 cecdfd71-e1b1-4c90-a72d-c6770c44f2b5 g.chr2:21228654T>C ENST00000233242.1 - 26 11213 c.11086A>G c.(11086-11088)Att>Gtt p.I3696V NM_000384.2 NP_000375.2 P04114 APOB_HUMAN apolipoprotein B 3696 cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6) 305 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) Atorvastatin(DB01076) CTCCTACCAATGCTGGTGGTT 0.423000 5 114 0 0 1 0 0 TRBV10-1 0 broad.mit.edu 37 7 142231795 142231795 + RNA SNP G G A TCGA-E1-A7Z3-01A-11D-A34J-08 TCGA-E1-A7Z3-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c7e93c7-09b0-4f5e-8e50-5485a1572fc1 cecdfd71-e1b1-4c90-a72d-c6770c44f2b5 g.chr7:142231795G>A ENST00000390364.3 - 0 189 CTGGTGACACGCCAAGGTCAC 0.493000 13 134 0 0 1 0 0 EP400 57634 broad.mit.edu 37 12 132547093 132547093 + Silent SNP A A G rs60608267 by1000genomes TCGA-E1-A7Z3-01A-11D-A34J-08 TCGA-E1-A7Z3-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c7e93c7-09b0-4f5e-8e50-5485a1572fc1 cecdfd71-e1b1-4c90-a72d-c6770c44f2b5 g.chr12:132547093A>G ENST00000333577.4 + 48 8398 c.8289A>G c.(8287-8289)caA>caG p.Q2763Q EP400_ENST00000389562.2_Silent_p.Q2726Q|EP400_ENST00000330386.6_Silent_p.Q2646Q|EP400_ENST00000332482.4_Silent_p.Q2690Q|EP400_ENST00000389561.2_Silent_p.Q2727Q Q96L91 EP400_HUMAN E1A binding protein p400 2763 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.Q2726Q(9) 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) agcagcaacaacagcagcagc 0.567000 4 42 0 0 1 0 0 SOX3 6658 broad.mit.edu 37 X 139586563 139586563 + Silent SNP A A G TCGA-E1-A7Z3-01A-11D-A34J-08 TCGA-E1-A7Z3-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c7e93c7-09b0-4f5e-8e50-5485a1572fc1 cecdfd71-e1b1-4c90-a72d-c6770c44f2b5 g.chrX:139586563A>G ENST00000370536.2 - 1 662 c.663T>C c.(661-663)gaT>gaC p.D221D NM_005634.2 NP_005625.2 P41225 SOX3_HUMAN SRY (sex determining region Y)-box 3 221 face development|hypothalamus development|negative regulation of neuron differentiation|pituitary gland development|regulation of transcription, DNA-dependent|sensory organ development|sex determination|transcription, DNA-dependent nucleus DNA binding haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|pancreas(1)|skin(1) 10 Acute lymphoblastic leukemia(192;7.65e-05) GGGAGTACTTATCTTTCTTGA 0.692000 12 27 0 0 1 0 0 EP400 57634 broad.mit.edu 37 12 132547087 132547087 + Silent SNP G G A rs12366766 TCGA-E1-A7Z3-01A-11D-A34J-08 TCGA-E1-A7Z3-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c7e93c7-09b0-4f5e-8e50-5485a1572fc1 cecdfd71-e1b1-4c90-a72d-c6770c44f2b5 g.chr12:132547087G>A ENST00000333577.4 + 48 8392 c.8283G>A c.(8281-8283)caG>caA p.Q2761Q EP400_ENST00000389562.2_Silent_p.Q2724Q|EP400_ENST00000330386.6_Silent_p.Q2644Q|EP400_ENST00000332482.4_Silent_p.Q2688Q|EP400_ENST00000389561.2_Silent_p.Q2725Q 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 36 0 0 1 0 0 KIAA1462 57608 broad.mit.edu 37 10 30317528 30317528 + Missense_Mutation SNP T T C TCGA-E1-A7Z3-01A-11D-A34J-08 TCGA-E1-A7Z3-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c7e93c7-09b0-4f5e-8e50-5485a1572fc1 cecdfd71-e1b1-4c90-a72d-c6770c44f2b5 g.chr10:30317528T>C ENST00000375377.1 - 3 1650 c.1549A>G c.(1549-1551)Aga>Gga p.R517G NM_020848.2 NP_065899.1 Q9P266 K1462_HUMAN KIAA1462 517 breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1) 75 CAGCGGTCTCTCTGGTTGGGG 0.652000 13 135 0 0 1 0 0 NBPF10 100132406 broad.mit.edu 37 1 145359169 145359169 + Missense_Mutation SNP T T A TCGA-E1-A7Z3-01A-11D-A34J-08 TCGA-E1-A7Z3-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c7e93c7-09b0-4f5e-8e50-5485a1572fc1 cecdfd71-e1b1-4c90-a72d-c6770c44f2b5 g.chr1:145359169T>A ENST00000342960.5 + 72 9144 c.9109T>A c.(9109-9111)Ttg>Atg p.L3037M NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.2_Intron NM_001039703.4 NP_001034792.4 A6NDV3 A6NDV3_HUMAN neuroblastoma breakpoint family, member 10 3037 p.L3037M(7) NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2) 73 all_hematologic(923;0.032) Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258) GCGTGTTGGCTTGGCTGTTGA 0.458000 7 668 0 0 1 0 0 AIM1L 55057 broad.mit.edu 37 1 26650676 26650676 + Missense_Mutation SNP G G C TCGA-E1-A7Z3-01A-11D-A34J-08 TCGA-E1-A7Z3-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c7e93c7-09b0-4f5e-8e50-5485a1572fc1 cecdfd71-e1b1-4c90-a72d-c6770c44f2b5 g.chr1:26650676G>C ENST00000527815.1 - 17 2131 c.2082C>G c.(2080-2082)atC>atG p.I694M AIM1L_ENST00000308182.5_Missense_Mutation_p.I523M NM_001039775.3 NP_001034864.2 Q8N1P7 AIM1L_HUMAN absent in melanoma 1-like 523 sugar binding endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|pancreas(1)|skin(2) 12 all_cancers(24;4.67e-25)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00637)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;1.51e-27)|Colorectal(126;1.61e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000792)|BRCA - Breast invasive adenocarcinoma(304;0.00104)|STAD - Stomach adenocarcinoma(196;0.00154)|GBM - Glioblastoma multiforme(114;0.00858)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.165)|LUSC - Lung squamous cell carcinoma(448;0.239) CGTAGTACCAGATGCAGCTAC 0.612000 6 47 0 0 1 0 0 KIAA0907 22889 broad.mit.edu 37 1 155895455 155895455 + Silent SNP T T C TCGA-E1-A7Z3-01A-11D-A34J-08 TCGA-E1-A7Z3-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c7e93c7-09b0-4f5e-8e50-5485a1572fc1 cecdfd71-e1b1-4c90-a72d-c6770c44f2b5 g.chr1:155895455T>C ENST00000368320.3 - 7 886 c.861A>G c.(859-861)cgA>cgG p.R287R KIAA0907_ENST00000368319.3_Silent_p.R287R|KIAA0907_ENST00000368321.3_Silent_p.R287R|KIAA0907_ENST00000482337.1_5'UTR Q7Z7F0 K0907_HUMAN KIAA0907 287 breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|urinary_tract(1) 21 Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195) OV - Ovarian serous cystadenocarcinoma(3;8.82e-06) CAAAAGCTTCTCGGCCAGATG 0.478000 28 57 0 0 1 0 0 ANKRD20A5P 0 broad.mit.edu 37 18 14183745 14183745 + RNA SNP A A T TCGA-E1-A7Z3-01A-11D-A34J-08 TCGA-E1-A7Z3-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c7e93c7-09b0-4f5e-8e50-5485a1572fc1 cecdfd71-e1b1-4c90-a72d-c6770c44f2b5 g.chr18:14183745A>T ENST00000581935.1 + 0 596 lung(3) 3 TGACAAAGAAAATAGAACGCC 0.358000 11 281 0 0 1 0 0 DNAJC2 27000 broad.mit.edu 37 7 102957362 102957362 + Missense_Mutation SNP C C T TCGA-E1-A7Z3-01A-11D-A34J-08 TCGA-E1-A7Z3-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c7e93c7-09b0-4f5e-8e50-5485a1572fc1 cecdfd71-e1b1-4c90-a72d-c6770c44f2b5 g.chr7:102957362C>T ENST00000379263.3 - 13 1592 c.1342G>A c.(1342-1344)Gga>Aga p.G448R PMPCB_ENST00000420236.2_Intron|DNAJC2_ENST00000249270.7_Missense_Mutation_p.G395R NM_014377.1 NP_055192.1 Q99543 DNJC2_HUMAN DnaJ (Hsp40) homolog, subfamily C, member 2 448 'de novo' cotranslational protein folding|chromatin modification|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cytosol|nuclear membrane chromatin binding|DNA binding|histone binding|Hsp70 protein binding|ubiquitin binding endometrium(1)|kidney(9)|large_intestine(6)|lung(4)|ovary(1) 21 CTTCCATTTCCACCTCCACCA 0.378000 23 126 0 0 1 0 0 FTSJD1 0 broad.mit.edu 37 16 71319563 71319563 + Silent SNP C C T TCGA-E1-A7Z3-01A-11D-A34J-08 TCGA-E1-A7Z3-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c7e93c7-09b0-4f5e-8e50-5485a1572fc1 cecdfd71-e1b1-4c90-a72d-c6770c44f2b5 g.chr16:71319563C>T ENST00000338099.5 - 3 597 c.261G>A c.(259-261)gaG>gaA p.E87E FTSJD1_ENST00000434935.2_Silent_p.E87E Q8IYT2 FTSJ1_HUMAN 87 integral to membrane methyltransferase activity|nucleic acid binding breast(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(12)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 AAGCAGTGTGCTCATGCCACT 0.383000 6 109 0 0 1 0 0 IDH1 3417 broad.mit.edu 37 2 209113112 209113112 + Missense_Mutation SNP C C T rs121913500 TCGA-E1-A7Z3-01A-11D-A34J-08 TCGA-E1-A7Z3-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c7e93c7-09b0-4f5e-8e50-5485a1572fc1 cecdfd71-e1b1-4c90-a72d-c6770c44f2b5 g.chr2:209113112C>T ENST00000415913.1 - 4 776 c.395G>A c.(394-396)cGt>cAt p.R132H IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H O75874 IDHC_HUMAN isocitrate dehydrogenase 1 (NADP+), soluble 132 R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). 2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle cytosol|peroxisomal matrix isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1) NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1) 4887 Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136) ATAAGCATGACGACCTATGAT 0.393000 Mis gliobastoma 23 82 0 0 1 0 0 DLD 1738 broad.mit.edu 37 7 107559676 107559676 + Missense_Mutation SNP C C T TCGA-E1-A7Z3-01A-11D-A34J-08 TCGA-E1-A7Z3-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c7e93c7-09b0-4f5e-8e50-5485a1572fc1 cecdfd71-e1b1-4c90-a72d-c6770c44f2b5 g.chr7:107559676C>T ENST00000205402.5 + 14 1783 c.1502C>T c.(1501-1503)gCg>gTg p.A501V DLD_ENST00000440410.1_Missense_Mutation_p.A478V|DLD_ENST00000537148.1_Missense_Mutation_p.A402V|DLD_ENST00000437604.2_Missense_Mutation_p.A453V NM_000108.3 NP_000099.2 P09622 DLDH_HUMAN dihydrolipoamide dehydrogenase 501 branched chain family amino acid catabolic process|cell redox homeostasis|lysine catabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate|tricarboxylic acid cycle mitochondrial matrix dihydrolipoyl dehydrogenase activity NS(1)|breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(1)|lung(10)|prostate(1) 20 NADH(DB00157) AATCTTGCTGCGTCATTTGGC 0.323000 5 333 0 0 1 0 0 HERC2 8924 broad.mit.edu 37 15 28413709 28413709 + Silent SNP C C A TCGA-E1-A7Z3-01A-11D-A34J-08 TCGA-E1-A7Z3-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c7e93c7-09b0-4f5e-8e50-5485a1572fc1 cecdfd71-e1b1-4c90-a72d-c6770c44f2b5 g.chr15:28413709C>A ENST00000261609.7 - 67 10365 c.10257G>T c.(10255-10257)ccG>ccT p.P3419P NM_004667.5 NP_004658.3 O95714 HERC2_HUMAN HECT and RLD domain containing E3 ubiquitin protein ligase 2 3419 DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process nucleus guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4) 204 all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227) all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199) TCATGGCGGCCGGCATCAGGG 0.632000 3 49 0.115264 0.115264 1 1 0 ARL6 84100 broad.mit.edu 37 3 97499462 97499462 + Missense_Mutation SNP G G C TCGA-E1-A7Z3-01A-11D-A34J-08 TCGA-E1-A7Z3-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c7e93c7-09b0-4f5e-8e50-5485a1572fc1 cecdfd71-e1b1-4c90-a72d-c6770c44f2b5 g.chr3:97499462G>C ENST00000463745.1 + 4 666 c.189G>C c.(187-189)ttG>ttC p.L63F ARL6_ENST00000394206.1_Missense_Mutation_p.L63F|ARL6_ENST00000496713.1_3'UTR|ARL6_ENST00000335979.2_Missense_Mutation_p.L63F NM_001278293.1 NP_001265222.1 Q9H0F7 ARL6_HUMAN ADP-ribosylation factor-like 6 63 cilium assembly|determination of left/right symmetry|melanosome transport|protein polymerization|protein targeting to membrane|small GTPase mediated signal transduction|visual perception|Wnt receptor signaling pathway axonemal microtubule|cilium axoneme|cilium membrane|membrane coat|microtubule basal body GTP binding|metal ion binding|phospholipid binding|protein binding large_intestine(1)|lung(4) 5 Lung NSC(201;0.0193)|Prostate(884;0.174) LUSC - Lung squamous cell carcinoma(29;0.0118)|Lung(72;0.0189) TTTGTAGTTTGTCATTTACAG 0.289000 16 52 0 0 1 0 0 GPR133 283383 broad.mit.edu 37 12 131620642 131620642 + Silent SNP C C T TCGA-E1-A7Z3-01A-11D-A34J-08 TCGA-E1-A7Z3-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c7e93c7-09b0-4f5e-8e50-5485a1572fc1 cecdfd71-e1b1-4c90-a72d-c6770c44f2b5 g.chr12:131620642C>T ENST00000261654.5 + 22 2887 c.2328C>T c.(2326-2328)ggC>ggT p.G776G GPR133_ENST00000376682.4_Silent_p.G462G|GPR133_ENST00000535015.1_Silent_p.G808G|GPR133_ENST00000540207.1_3'UTR|GPR133_ENST00000543617.1_Silent_p.G295G NM_198827.3 NP_942122.2 Q6QNK2 GP133_HUMAN G protein-coupled receptor 133 776 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity NS(2)|breast(2)|endometrium(6)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|pancreas(6)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4) 67 all_neural(191;0.0982)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06) GGGTCTTTGGCGTGCTTGCTG 0.617000 4 41 0 0 1 0 0 SLC22A16 85413 broad.mit.edu 37 6 110778052 110778052 + Silent SNP G G A TCGA-E1-A7Z3-01A-11D-A34J-08 TCGA-E1-A7Z3-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c7e93c7-09b0-4f5e-8e50-5485a1572fc1 cecdfd71-e1b1-4c90-a72d-c6770c44f2b5 g.chr6:110778052G>A ENST00000368919.3 - 2 288 c.222C>T c.(220-222)acC>acT p.T74T SLC22A16_ENST00000330550.4_Intron|SLC22A16_ENST00000456137.2_Silent_p.T74T|SLC22A16_ENST00000461487.1_5'UTR|SLC22A16_ENST00000439654.1_Silent_p.T74T NM_033125.3 NP_149116.2 Q86VW1 S22AG_HUMAN solute carrier family 22 (organic cation/carnitine transporter), member 16 74 acid secretion|cell differentiation|multicellular organismal development|single fertilization|sperm motility|spermatogenesis integral to membrane carnitine transporter activity breast(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 34 all_cancers(87;0.00221)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|all_epithelial(87;0.0485)|Colorectal(196;0.101) OV - Ovarian serous cystadenocarcinoma(136;0.0513)|Epithelial(106;0.0921)|all cancers(137;0.115) ACAGGGCCCCGGTGTCCTCCA 0.507000 4 92 0 0 1 0 0 MYO1A 4640 broad.mit.edu 37 12 57442017 57442017 + Missense_Mutation SNP G G A TCGA-E1-A7Z3-01A-11D-A34J-08 TCGA-E1-A7Z3-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c7e93c7-09b0-4f5e-8e50-5485a1572fc1 cecdfd71-e1b1-4c90-a72d-c6770c44f2b5 g.chr12:57442017G>A ENST00000442789.2 - 3 378 c.91C>T c.(91-93)Cgc>Tgc p.R31C MYO1A_ENST00000300119.3_Missense_Mutation_p.R31C NM_001256041.1 NP_001242970.1 Q9UBC5 MYO1A_HUMAN myosin IA 31 Myosin head-like. sensory perception of sound|vesicle localization brush border|cortical actin cytoskeleton|filamentous actin|lateral plasma membrane|microvillus|myosin complex actin binding|ATP binding|calmodulin binding|motor activity breast(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(17)|ovary(2)|skin(7)|urinary_tract(3) 50 TTTTCATAGCGAAGCTGAAGA 0.542000 15 26 0 0 1 0 0 F13B 2165 broad.mit.edu 37 1 197021808 197021808 + Missense_Mutation SNP T T C TCGA-E1-A7Z3-01A-11D-A34J-08 TCGA-E1-A7Z3-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c7e93c7-09b0-4f5e-8e50-5485a1572fc1 cecdfd71-e1b1-4c90-a72d-c6770c44f2b5 g.chr1:197021808T>C ENST00000367412.1 - 9 1554 c.1511A>G c.(1510-1512)cAg>cGg p.Q504R NM_001994.2 NP_001985.2 P05160 F13B_HUMAN coagulation factor XIII, B polypeptide 504 Sushi 8. blood coagulation extracellular region breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(40)|prostate(2)|skin(4)|upper_aerodigestive_tract(3) 66 TCTGTTGCACTGCACAGATAA 0.338000 27 82 0 0 1 0 0 VPS13A 23230 broad.mit.edu 37 9 79986031 79986031 + Missense_Mutation SNP G G T TCGA-E1-A7Z3-01A-11D-A34J-08 TCGA-E1-A7Z3-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c7e93c7-09b0-4f5e-8e50-5485a1572fc1 cecdfd71-e1b1-4c90-a72d-c6770c44f2b5 g.chr9:79986031G>T ENST00000360280.3 + 67 9303 c.9043G>T c.(9043-9045)Gac>Tac p.D3015Y VPS13A_ENST00000376634.4_Missense_Mutation_p.D3015Y|VPS13A_ENST00000376636.3_Missense_Mutation_p.D2976Y|VPS13A_ENST00000357409.5_Missense_Mutation_p.D3015Y NM_033305.2 NP_150648.2 Q96RL7 VP13A_HUMAN vacuolar protein sorting 13 homolog A (S. cerevisiae) 3015 Golgi to endosome transport|protein transport intracellular protein binding breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1) 104 AGGCATCATAGACATGGCTAG 0.418000 5 65 1.23904e-05 1.29411e-05 1 1 0 ETHE1 23474 broad.mit.edu 37 19 44030437 44030437 + Silent SNP G G A TCGA-E1-A7Z3-01A-11D-A34J-08 TCGA-E1-A7Z3-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c7e93c7-09b0-4f5e-8e50-5485a1572fc1 cecdfd71-e1b1-4c90-a72d-c6770c44f2b5 g.chr19:44030437G>A ENST00000600651.1 - 3 314 c.291C>T c.(289-291)ggC>ggT p.G97G ETHE1_ENST00000292147.2_Silent_p.G97G|ZNF575_ENST00000458714.2_Intron O95571 ETHE1_HUMAN ethylmalonic encephalopathy 1 97 mitochondrial matrix|nucleus hydrolase activity|metal ion binding central_nervous_system(1)|liver(1)|lung(2)|upper_aerodigestive_tract(1) 5 Prostate(69;0.0153) CAGACTGGCAGCCAGGGAGGA 0.622000 5 47 0 0 1 0 0 MYO1E 4643 broad.mit.edu 37 15 59453404 59453404 + Missense_Mutation SNP T T C TCGA-E1-A7Z3-01A-11D-A34J-08 TCGA-E1-A7Z3-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c7e93c7-09b0-4f5e-8e50-5485a1572fc1 cecdfd71-e1b1-4c90-a72d-c6770c44f2b5 g.chr15:59453404T>C ENST00000288235.4 - 24 3052 c.2653A>G c.(2653-2655)Aac>Gac p.N885D NM_004998.3 NP_004989.2 Q12965 MYO1E_HUMAN myosin IE 885 actin filament-based movement myosin complex actin binding|ATP binding|ATPase activity, coupled|calmodulin binding|microfilament motor activity breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(6)|lung(10)|pancreas(2)|prostate(1)|urinary_tract(1) 33 all cancers(107;0.207) GGGCCCCAGTTTTCCTTTTTC 0.567000 OREG0023156 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 10 40 0 0 1 0 0 LTV1 84946 broad.mit.edu 37 6 144184292 144184292 + Missense_Mutation SNP G G A TCGA-E1-A7Z3-01A-11D-A34J-08 TCGA-E1-A7Z3-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c7e93c7-09b0-4f5e-8e50-5485a1572fc1 cecdfd71-e1b1-4c90-a72d-c6770c44f2b5 g.chr6:144184292G>A ENST00000367576.5 + 10 1320 c.1186G>A c.(1186-1188)Gca>Aca p.A396T NM_032860.3 NP_116249.2 Q96GA3 LTV1_HUMAN LTV1 homolog (S. cerevisiae) 396 breast(2)|endometrium(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(1) 13 OV - Ovarian serous cystadenocarcinoma(155;2.72e-06)|GBM - Glioblastoma multiforme(68;0.0372) AGGACTCACAGCAAAGCAAAC 0.348000 4 134 0 0 1 0 0 TUBB8P7 0 broad.mit.edu 37 16 90162556 90162556 + RNA SNP G G A TCGA-E1-A7Z3-01A-11D-A34J-08 TCGA-E1-A7Z3-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c7e93c7-09b0-4f5e-8e50-5485a1572fc1 cecdfd71-e1b1-4c90-a72d-c6770c44f2b5 g.chr16:90162556G>A ENST00000564451.1 + 0 1909 TUBB8P7_ENST00000567960.1_RNA p.E430*(1) TGCCACGGCCGAGGAGGAGGA 0.517000 4 122 0 0 1 0 0 CDC5L 988 broad.mit.edu 37 6 44394423 44394423 + Missense_Mutation SNP A A C TCGA-E1-A7Z3-01A-11D-A34J-08 TCGA-E1-A7Z3-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c7e93c7-09b0-4f5e-8e50-5485a1572fc1 cecdfd71-e1b1-4c90-a72d-c6770c44f2b5 g.chr6:44394423A>C ENST00000371477.3 + 13 2154 c.1855A>C c.(1855-1857)Aat>Cat p.N619H NM_001253.3 NP_001244.1 Q99459 CDC5L_HUMAN cell division cycle 5-like 619 Interaction with DAPK3 (By similarity). cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent catalytic step 2 spliceosome|cytoplasm|nuclear speck|nucleolus DNA binding|RNA binding breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|skin(4) 29 all_lung(25;0.00433)|Ovarian(13;0.0273)|all_hematologic(164;0.208) Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536) TCTGGAACATAATCCTTATGA 0.363000 16 70 0 0 1 0 0 CXorf38 159013 broad.mit.edu 37 X 40506561 40506561 + Missense_Mutation SNP C C T TCGA-E1-A7Z3-01A-11D-A34J-08 TCGA-E1-A7Z3-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c7e93c7-09b0-4f5e-8e50-5485a1572fc1 cecdfd71-e1b1-4c90-a72d-c6770c44f2b5 g.chrX:40506561C>T ENST00000327877.5 - 1 238 c.212G>A c.(211-213)cGc>cAc p.R71H CXorf38_ENST00000440784.2_Missense_Mutation_p.R71H|CXorf38_ENST00000378418.2_Missense_Mutation_p.R71H|CXorf38_ENST00000378421.1_5'UTR|CXorf38_ENST00000378426.1_5'UTR NM_144970.2 NP_659407.1 Q8TB03 CX038_HUMAN chromosome X open reading frame 38 71 NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(3)|ovary(1)|urinary_tract(1) 12 GCTCACCTGGCGGGCGCGAGG 0.751000 4 12 0 0 1 0 0 SNHG14 0 broad.mit.edu 37 15 25468207 25468207 + RNA SNP T T C TCGA-E1-A7Z3-01A-11D-A34J-08 TCGA-E1-A7Z3-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c7e93c7-09b0-4f5e-8e50-5485a1572fc1 cecdfd71-e1b1-4c90-a72d-c6770c44f2b5 g.chr15:25468207T>C ENST00000453082.2 + 0 755 NR_003343.1 TGCCCCCAGATGGTGAGACTT 0.597000 4 13 0 0 1 0 0 C1orf172 126695 broad.mit.edu 37 1 27278347 27278347 + Silent SNP C C T TCGA-E1-A7Z3-01A-11D-A34J-08 TCGA-E1-A7Z3-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c7e93c7-09b0-4f5e-8e50-5485a1572fc1 cecdfd71-e1b1-4c90-a72d-c6770c44f2b5 g.chr1:27278347C>T ENST00000320567.5 - 2 613 c.525G>A c.(523-525)ccG>ccA p.P175P NM_152365.2 NP_689578.2 Q8NAX2 CA172_HUMAN chromosome 1 open reading frame 172 175 NS(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 17 all_cancers(24;1.29e-21)|all_epithelial(13;2.35e-19)|Colorectal(325;0.000147)|all_lung(284;0.00122)|Lung NSC(340;0.00128)|Breast(348;0.00131)|Renal(390;0.00211)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;3.37e-51)|OV - Ovarian serous cystadenocarcinoma(117;2.22e-29)|Colorectal(126;5.31e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000272)|STAD - Stomach adenocarcinoma(196;0.000588)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|READ - Rectum adenocarcinoma(331;0.0419) AGGTGGCCCTCGGGTAGGGAT 0.647000 14 42 0 0 1 0 0 PI4KA 5297 broad.mit.edu 37 22 21062373 21062373 + Missense_Mutation SNP C C T TCGA-E1-A7Z3-01A-11D-A34J-08 TCGA-E1-A7Z3-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c7e93c7-09b0-4f5e-8e50-5485a1572fc1 cecdfd71-e1b1-4c90-a72d-c6770c44f2b5 g.chr22:21062373C>T ENST00000255882.6 - 55 6357 c.6271G>A c.(6271-6273)Gac>Aac p.D2091N PI4KA_ENST00000414196.3_Missense_Mutation_p.D843N|PI4KA_ENST00000572273.1_Missense_Mutation_p.D2033N NM_058004.3 NP_477352.3 P42356 PI4KA_HUMAN phosphatidylinositol 4-kinase, catalytic, alpha 2033 phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling|synaptic transmission Golgi-associated vesicle 1-phosphatidylinositol 4-kinase activity|ATP binding|protein binding breast(3)|endometrium(8)|kidney(9)|large_intestine(19)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|salivary_gland(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 79 all_cancers(11;7.59e-25)|all_epithelial(7;1.34e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142) Lung SC(17;0.0262) LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196) TGGATCATGTCGTAGGTCCGG 0.587000 4 100 0 0 1 0 0 COX7B 1349 broad.mit.edu 37 X 77155051 77155051 + Translation_Start_Site SNP A A G TCGA-E1-A7Z3-01A-11D-A34J-08 TCGA-E1-A7Z3-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c7e93c7-09b0-4f5e-8e50-5485a1572fc1 cecdfd71-e1b1-4c90-a72d-c6770c44f2b5 g.chrX:77155051A>G ENST00000481445.1 + 1 117 c.1A>G c.(1-3)Atg>Gtg p.M1V COX7B_ENST00000475465.1_3'UTR NM_001866.2 NP_001857.1 P24311 COX7B_HUMAN cytochrome c oxidase subunit VIIb 1 respiratory electron transport chain integral to membrane|mitochondrial respiratory chain cytochrome-c oxidase activity endometrium(2) 2 CACCTTCACGATGTTTCCCTT 0.443000 7 81 0 0 1 0 0 ABCA13 154664 broad.mit.edu 37 7 48319515 48319515 + Silent SNP A A G TCGA-E1-A7Z3-01A-11D-A34J-08 TCGA-E1-A7Z3-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c7e93c7-09b0-4f5e-8e50-5485a1572fc1 cecdfd71-e1b1-4c90-a72d-c6770c44f2b5 g.chr7:48319515A>G ENST00000435803.1 + 18 8748 c.8724A>G c.(8722-8724)caA>caG p.Q2908Q NM_152701.3 NP_689914.2 Q86UQ4 ABCAD_HUMAN ATP-binding cassette, sub-family A (ABC1), member 13 2908 transport integral to membrane ATP binding|ATPase activity breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4) 270 TAACAGATCAAAGGTAATTAA 0.343000 3 26 0 0 1 0 0 ATM 472 broad.mit.edu 37 11 108119696 108119696 + Missense_Mutation SNP C C G TCGA-E1-A7Z3-01A-11D-A34J-08 TCGA-E1-A7Z3-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c7e93c7-09b0-4f5e-8e50-5485a1572fc1 cecdfd71-e1b1-4c90-a72d-c6770c44f2b5 g.chr11:108119696C>G ENST00000278616.4 + 9 1487 c.1102C>G c.(1102-1104)Caa>Gaa p.Q368E ATM_ENST00000452508.2_Missense_Mutation_p.Q368E NM_000051.3 NP_000042.3 Q13315 ATM_HUMAN ataxia telangiectasia mutated 368 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 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) GGAGATTTCTCAATCTTACAC 0.328000 """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) 3 54 0 0 1 0 0 SERPINA5 5104 broad.mit.edu 37 14 95053930 95053930 + Silent SNP C C T TCGA-E1-A7Z3-01A-11D-A34J-08 TCGA-E1-A7Z3-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c7e93c7-09b0-4f5e-8e50-5485a1572fc1 cecdfd71-e1b1-4c90-a72d-c6770c44f2b5 g.chr14:95053930C>T ENST00000329597.7 + 3 441 c.231C>T c.(229-231)gcC>gcT p.A77A SERPINA5_ENST00000554276.1_Silent_p.A77A|SERPINA5_ENST00000553780.1_Silent_p.A77A|SERPINA5_ENST00000554866.1_Silent_p.A77A NM_000624.4 NP_000615.3 P05154 IPSP_HUMAN serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 5 77 fusion of sperm to egg plasma membrane|regulation of proteolysis|spermatogenesis extracellular region|membrane|protein complex acrosin binding|heparin binding|protease binding|serine-type endopeptidase inhibitor activity endometrium(3)|large_intestine(5)|lung(18)|ovary(2)|skin(5)|upper_aerodigestive_tract(3) 36 COAD - Colon adenocarcinoma(157;0.21) Drotrecogin alfa(DB00055)|Urokinase(DB00013) TGAGCCTGGCCATGCTCTCCC 0.597000 3 25 0 0 1 0 0 ROBO2 6092 broad.mit.edu 37 3 77542481 77542481 + Missense_Mutation SNP C C G TCGA-E1-A7Z3-01A-11D-A34J-08 TCGA-E1-A7Z3-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c7e93c7-09b0-4f5e-8e50-5485a1572fc1 cecdfd71-e1b1-4c90-a72d-c6770c44f2b5 g.chr3:77542481C>G ENST00000461745.1 + 5 1654 c.754C>G c.(754-756)Cct>Gct p.P252A ROBO2_ENST00000487694.3_Missense_Mutation_p.P268A|ROBO2_ENST00000332191.8_Missense_Mutation_p.P252A NM_002942.4 NP_002933.1 Q9HCK4 ROBO2_HUMAN roundabout, axon guidance receptor, homolog 2 (Drosophila) 252 Ig-like C2-type 3. apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development axolemma|cell surface|integral to membrane axon guidance receptor activity|identical protein binding NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1) 117 Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103) CCAAGGAGATCCTCAACCAAC 0.413000 24 52 0 0 1 0 0 ASB11 0 broad.mit.edu 37 X 15306083 15306083 + Missense_Mutation SNP C C T TCGA-E1-A7Z3-01A-11D-A34J-08 TCGA-E1-A7Z3-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c7e93c7-09b0-4f5e-8e50-5485a1572fc1 cecdfd71-e1b1-4c90-a72d-c6770c44f2b5 g.chrX:15306083C>T ENST00000537676.1 - 6 776 c.704G>A c.(703-705)cGt>cAt p.R235H ASB11_ENST00000380470.3_Missense_Mutation_p.R239H|ASB11_ENST00000480796.1_Missense_Mutation_p.R256H|ASB11_ENST00000344384.4_Missense_Mutation_p.R235H Q8WXH4 ASB11_HUMAN ankyrin repeat and SOCS box containing 11 256 intracellular signal transduction breast(2)|central_nervous_system(4)|endometrium(1)|large_intestine(1)|lung(5)|ovary(2)|skin(1) 16 Hepatocellular(33;0.183) AGCATTTCTACGCTTCAGGTT 0.572000 11 62 0 0 1 0 0 ZNF470 388566 broad.mit.edu 37 19 57088811 57088811 + Missense_Mutation SNP A A C TCGA-E1-A7Z3-01A-11D-A34J-08 TCGA-E1-A7Z3-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c7e93c7-09b0-4f5e-8e50-5485a1572fc1 cecdfd71-e1b1-4c90-a72d-c6770c44f2b5 g.chr19:57088811A>C ENST00000330619.8 + 6 1700 c.1014A>C c.(1012-1014)aaA>aaC p.K338N ZNF470_ENST00000391709.3_Missense_Mutation_p.K338N|ZNF470_ENST00000601902.1_Intron NM_001001668.3 NP_001001668.3 Q6ECI4 ZN470_HUMAN zinc finger protein 470 338 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(7)|large_intestine(12)|lung(11)|ovary(1)|pancreas(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 41 Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157) GBM - Glioblastoma multiforme(193;0.0294) CTGGAGAGAAACCCTATGAAT 0.428000 16 29 0 0 1 0 0 DNAJC13 23317 broad.mit.edu 37 3 132166297 132166299 + In_Frame_Del DEL CTT CTT - TCGA-E1-A7Z3-01A-11D-A34J-08 TCGA-E1-A7Z3-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c7e93c7-09b0-4f5e-8e50-5485a1572fc1 cecdfd71-e1b1-4c90-a72d-c6770c44f2b5 g.chr3:132166297_132166299delCTT ENST00000260818.6 + 4 525_527 c.277_279delCTT c.(277-279)del p.L94del DNAJC13_ENST00000486798.1_3'UTR NM_015268.3 NP_056083.3 O75165 DJC13_HUMAN DnaJ (Hsp40) homolog, subfamily C, member 13 94 heat shock protein binding breast(4)|endometrium(2)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|urinary_tract(1) 34 CAGAACAGAACTTCTTACAGAAG 0.320 12 35 --- --- --- --- SCD5 79966 broad.mit.edu 37 4 83601969 83601971 + In_Frame_Del DEL AGA AGA - TCGA-E1-A7Z3-01A-11D-A34J-08 TCGA-E1-A7Z3-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c7e93c7-09b0-4f5e-8e50-5485a1572fc1 cecdfd71-e1b1-4c90-a72d-c6770c44f2b5 g.chr4:83601969_83601971delAGA ENST00000319540.4 - 3 777_779 c.458_460delTCT c.(457-462)tcc>t p.FS153del SCD5_ENST00000273908.4_In_Frame_Del_p.FS153del NM_001037582.2 NP_001032671.2 Q86SK9 SCD5_HUMAN stearoyl-CoA desaturase 5 153 fatty acid biosynthetic process endoplasmic reticulum membrane|integral to membrane iron ion binding|stearoyl-CoA 9-desaturase activity endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(1) 13 Colorectal(4;0.0323)|Hepatocellular(203;0.115) CCAATATGGGAGAAGAAGAAGCC 0.552 30 93 --- --- --- --- PDE8B 8622 broad.mit.edu 37 5 76707533 76707534 + Translation_Start_Site DEL TG TG - TCGA-E1-A7Z3-01A-11D-A34J-08 TCGA-E1-A7Z3-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c7e93c7-09b0-4f5e-8e50-5485a1572fc1 cecdfd71-e1b1-4c90-a72d-c6770c44f2b5 g.chr5:76707533_76707534delTG ENST00000505283.1 + 0 738_739 PDE8B_ENST00000346042.3_Frame_Shift_Del_p.YV424fs|PDE8B_ENST00000333194.4_Frame_Shift_Del_p.YV466fs|PDE8B_ENST00000340978.3_Frame_Shift_Del_p.YV474fs|PDE8B_ENST00000342343.4_Frame_Shift_Del_p.YV501fs|PDE8B_ENST00000264917.5_Frame_Shift_Del_p.YV521fs O95263 PDE8B_HUMAN phosphodiesterase 8B cyclic nucleotide metabolic process|regulation of transcription, DNA-dependent cytosol 3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|two-component response regulator activity GMDS/PDE8B(2) NS(1)|autonomic_ganglia(2)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(10)|lung(15)|ovary(1)|prostate(2)|skin(3) 40 all_lung(232;0.00043)|Lung NSC(167;0.00114)|Ovarian(174;0.0107)|Prostate(461;0.0605) OV - Ovarian serous cystadenocarcinoma(54;2.21e-49)|Epithelial(54;5.82e-43)|all cancers(79;4.06e-38) GAAACGAGTATGTGTTTACTAA 0.386 21 82 --- --- --- --- ATG9B 285973 broad.mit.edu 37 7 150721483 150721484 + Frame_Shift_Ins INS - - C TCGA-E1-A7Z3-01A-11D-A34J-08 TCGA-E1-A7Z3-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c7e93c7-09b0-4f5e-8e50-5485a1572fc1 cecdfd71-e1b1-4c90-a72d-c6770c44f2b5 g.chr7:150721483_150721484insC ENST00000605938.1 - 1 102_103 c.27_28insG c.(25-30)gggaagfs p.K10fs ATG9B_ENST00000377974.2_Frame_Shift_Ins_p.K10fs|ATG9B_ENST00000494791.1_5'UTR|ATG9B_ENST00000605952.1_Frame_Shift_Ins_p.K10fs|ATG9B_ENST00000444312.1_5'UTR NM_173681.5 NP_775952.4 Q674R7 ATG9B_HUMAN autophagy related 9B 10 autophagic vacuole assembly autophagic vacuole membrane|cytoplasmic vesicle|integral to membrane cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(1)|ovary(4)|prostate(1) 14 all_neural(206;0.219) OV - Ovarian serous cystadenocarcinoma(82;0.0121) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) CGCCTTCTTCTCCCCCCCCAGC 0.644 3 6 --- --- --- --- TUBGCP4 27229 broad.mit.edu 37 15 43694049 43694052 + Splice_Site DEL GTAA GTAA - TCGA-E1-A7Z3-01A-11D-A34J-08 TCGA-E1-A7Z3-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c7e93c7-09b0-4f5e-8e50-5485a1572fc1 cecdfd71-e1b1-4c90-a72d-c6770c44f2b5 g.chr15:43694049_43694052delGTAA ENST00000564079.1 + 15 1971 c.e15+1 TUBGCP4_ENST00000260383.7_Splice_Site|TUBGCP4_ENST00000399460.3_Splice_Site NM_014444.2 NP_055259.2 Q9UGJ1 GCP4_HUMAN tubulin, gamma complex associated protein 4 G2/M transition of mitotic cell cycle|microtubule nucleation|protein complex assembly centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole structural constituent of cytoskeleton breast(1)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(4)|prostate(2)|upper_aerodigestive_tract(2) 21 all_cancers(109;1.27e-10)|all_epithelial(112;4.82e-09)|Lung NSC(122;1.72e-06)|all_lung(180;1.59e-05)|Melanoma(134;0.0728) GBM - Glioblastoma multiforme(94;3.53e-07) ATTGAAACCTGTAAGTAAGGCTCA 0.422 11 47 --- --- --- --- TP53 7157 broad.mit.edu 37 17 7578275 7578277 + In_Frame_Del DEL GAG GAG - TCGA-E1-A7Z3-01A-11D-A34J-08 TCGA-E1-A7Z3-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c7e93c7-09b0-4f5e-8e50-5485a1572fc1 cecdfd71-e1b1-4c90-a72d-c6770c44f2b5 g.chr17:7578275_7578277delGAG ENST00000420246.2 - 6 704_706 c.572_574delCTC c.(571-576)cag>c p.PQ191del TP53_ENST00000445888.2_In_Frame_Del_p.PQ191del|TP53_ENST00000455263.2_In_Frame_Del_p.PQ191del|TP53_ENST00000359597.4_In_Frame_Del_p.PQ191del|TP53_ENST00000574684.1_Intron|TP53_ENST00000413465.2_In_Frame_Del_p.PQ191del|TP53_ENST00000269305.4_In_Frame_Del_p.PQ191del NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 191 Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42. P -> H (in sporadic cancers; somatic mutation).|P -> L (in sporadic cancers; somatic mutation).|P -> R (in sporadic cancers; somatic mutation).|P -> S (in sporadic cancers; somatic mutation).|P -> T (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.Q192*(83)|p.0?(8)|p.P191del(7)|p.Q99*(6)|p.?(6)|p.Q60*(6)|p.P191delP(4)|p.A189_V197delAPPQHLIRV(4)|p.P191_E198>Q(3)|p.P191fs*53(2)|p.P191L(2)|p.P191R(2)|p.G187fs*16(2)|p.P59delP(2)|p.P98delP(2)|p.P191fs*56(1)|p.P191fs*6(1)|p.A189_Q192>E(1)|p.P59_E66>Q(1)|p.P191fs*15(1)|p.P191H(1)|p.P191P(1)|p.P191_Q192delPQ(1)|p.D186_P191delDGLAPP(1)|p.Q192K(1)|p.P98_E105>Q(1)|p.A189fs*53(1)|p.Q192fs*56(1)|p.Q192del(1)|p.Q192fs*16(1)|p.L188_P191del(1)|p.Q192fs*30(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) ATAAGATGCTGAGGAGGGGCCAG 0.557 111 """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 33 --- --- --- --- SERPINB11 89778 broad.mit.edu 37 18 61388270 61388271 + RNA DEL AC AC - TCGA-E1-A7Z3-01A-11D-A34J-08 TCGA-E1-A7Z3-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c7e93c7-09b0-4f5e-8e50-5485a1572fc1 cecdfd71-e1b1-4c90-a72d-c6770c44f2b5 g.chr18:61388270_61388271delAC ENST00000544088.1 + 0 836 SERPINB11_ENST00000536691.1_RNA|SERPINB11_ENST00000538847.1_RNA|SERPINB11_ENST00000382749.5_RNA NM_080475.2 NP_536723.2 Q96P15 SPB11_HUMAN serpin peptidase inhibitor, clade B (ovalbumin), member 11 (gene/pseudogene) regulation of proteolysis cytoplasm serine-type endopeptidase inhibitor activity breast(1)|cervix(1)|kidney(1)|lung(3) 6 Esophageal squamous(42;0.129) GTGCATGTTAACACACACACAC 0.386 5 8 --- --- --- --- RRBP1 6238 broad.mit.edu 37 20 17639269 17639271 + In_Frame_Del DEL CTT CTT - TCGA-E1-A7Z3-01A-11D-A34J-08 TCGA-E1-A7Z3-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c7e93c7-09b0-4f5e-8e50-5485a1572fc1 cecdfd71-e1b1-4c90-a72d-c6770c44f2b5 g.chr20:17639269_17639271delCTT ENST00000377813.1 - 3 2185_2187 c.1882_1884delAAG c.(1882-1884)del p.K628del RRBP1_ENST00000455029.2_Intron|RRBP1_ENST00000377807.2_In_Frame_Del_p.K198del|RRBP1_ENST00000246043.4_In_Frame_Del_p.K628del|RRBP1_ENST00000360807.4_In_Frame_Del_p.K198del Q9P2E9 RRBP1_HUMAN ribosome binding protein 1 628 protein transport|translation|transmembrane transport integral to endoplasmic reticulum membrane|ribosome receptor activity breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|prostate(6) 28 TTGAACCAGACTTCTTCTTGGCA 0.453 7 121 --- --- --- --- ATRX 546 broad.mit.edu 37 X 76778764 76778767 + Frame_Shift_Del DEL TTTC TTTC - TCGA-E1-A7Z3-01A-11D-A34J-08 TCGA-E1-A7Z3-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c7e93c7-09b0-4f5e-8e50-5485a1572fc1 cecdfd71-e1b1-4c90-a72d-c6770c44f2b5 g.chrX:76778764_76778767delTTTC ENST00000373344.5 - 31 7026_7029 c.6812_6815delGAAA c.(6811-6816)aafs p.RK2271fs ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Frame_Shift_Del_p.RK2233fs NM_000489.3 NP_000480.2 P46100 ATRX_HUMAN alpha thalassemia/mental retardation syndrome X-linked 2271 R -> G (in MRXSHF1). 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 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) CCAAGCTGCTTTTCTTTCTTCTTC 0.368 """Mis, F, N""" """Pancreatic neuroendocrine tumors, paediatric GBM""" ATR-X (alpha thalassemia/mental retardation) syndrome 72 235 --- --- --- ---