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 SNX33 257364 broad.mit.edu 37 15 75942786 75942786 + Missense_Mutation SNP G G A rs139396216 byFrequency TCGA-HT-7676-01A-11D-2395-08 TCGA-HT-7676-10B-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx f7e2e119-549c-4b01-9587-b0227f5b0d55 f0d2df47-aeac-49c2-a537-641c574a3d9e g.chr15:75942786G>A ENST00000308527.5 + 1 2540 c.1343G>A c.(1342-1344)cGt>cAt p.R448H NM_153271.1 NP_695003.1 Q8WV41 SNX33_HUMAN sorting nexin 33 448 BAR. cell communication phosphatidylinositol binding|protein binding breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|prostate(1)|soft_tissue(1)|urinary_tract(2) 19 CACACGGGCCGTACCTATGAA 0.567000 4 161 0 0 1 0 0 TP53 7157 broad.mit.edu 37 17 7578394 7578394 + Missense_Mutation SNP T T C TCGA-HT-7676-01A-11D-2395-08 TCGA-HT-7676-10B-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx f7e2e119-549c-4b01-9587-b0227f5b0d55 f0d2df47-aeac-49c2-a537-641c574a3d9e g.chr17:7578394T>C ENST00000420246.2 - 5 668 c.536A>G c.(535-537)cAt>cGt p.H179R TP53_ENST00000359597.4_Missense_Mutation_p.H179R|TP53_ENST00000445888.2_Missense_Mutation_p.H179R|TP53_ENST00000455263.2_Missense_Mutation_p.H179R|TP53_ENST00000413465.2_Missense_Mutation_p.H179R|TP53_ENST00000269305.4_Missense_Mutation_p.H179R|TP53_ENST00000574684.1_5'UTR NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 179 Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42. H -> D (in sporadic cancers; somatic mutation).|H -> L (in sporadic cancers; somatic mutation).|H -> N (in sporadic cancers; somatic mutation).|H -> P (in sporadic cancers; somatic mutation).|H -> Q (in sporadic cancers; somatic mutation).|H -> R (in sporadic cancers; somatic mutation).|H -> Y (in LFS; germline mutation and in sporadic cancers; somatic mutation).|HH -> QS (in a sporadic cancer; 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.H179R(108)|p.H179L(43)|p.P177_C182delPHHERC(8)|p.0?(8)|p.H47L(4)|p.H86L(4)|p.C176_R181delCPHHER(3)|p.R174fs*24(3)|p.H179P(3)|p.H178_S183delHHERCS(3)|p.R175_E180delRCPHHE(3)|p.P177fs*3(2)|p.V173fs*59(2)|p.H86R(2)|p.H47R(2)|p.R174fs*1(2)|p.H179fs*68(1)|p.C176fs*65(1)|p.P177_H179delPHH(1)|p.V173fs*23(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.H46_S51delHHERCS(1)|p.H178fs*6(1)|p.P177_E180delPHHE(1)|p.R42fs*24(1)|p.H85_S90delHHERCS(1)|p.E171fs*1(1)|p.R174fs*3(1)|p.E171fs*61(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) GCAGCGCTCATGGTGGGGGCA 0.642000 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) 54 11 0 0 1 0 0 AC024560.3 0 broad.mit.edu 37 3 197348634 197348634 + RNA SNP G G C TCGA-HT-7676-01A-11D-2395-08 TCGA-HT-7676-10B-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx f7e2e119-549c-4b01-9587-b0227f5b0d55 f0d2df47-aeac-49c2-a537-641c574a3d9e g.chr3:197348634G>C ENST00000418868.1 - 0 625 NR_003266.2 CAGCAGCACCGATGGGCCTGC 0.542000 5 102 0 0 1 0 0 DDX51 317781 broad.mit.edu 37 12 132624720 132624720 + Silent SNP C C T TCGA-HT-7676-01A-11D-2395-08 TCGA-HT-7676-10B-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx f7e2e119-549c-4b01-9587-b0227f5b0d55 f0d2df47-aeac-49c2-a537-641c574a3d9e g.chr12:132624720C>T ENST00000397333.3 - 12 1736 c.1698G>A c.(1696-1698)gcG>gcA p.A566A NM_175066.3 NP_778236.2 Q8N8A6 DDX51_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 51 566 Helicase C-terminal. rRNA processing nucleolus ATP binding|ATP-dependent helicase activity|RNA binding endometrium(1)|lung(5)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1) 10 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.241) OV - Ovarian serous cystadenocarcinoma(86;7.59e-08)|Epithelial(86;3.62e-07)|all cancers(50;2.13e-05) CGATGCCTCGCGCGGTGGCGT 0.711000 34 62 0 0 1 0 0 ZNF704 619279 broad.mit.edu 37 8 81577128 81577128 + Silent SNP C C T TCGA-HT-7676-01A-11D-2395-08 TCGA-HT-7676-10B-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx f7e2e119-549c-4b01-9587-b0227f5b0d55 f0d2df47-aeac-49c2-a537-641c574a3d9e g.chr8:81577128C>T ENST00000327835.3 - 6 1080 c.849G>A c.(847-849)acG>acA p.T283T NM_001033723.2 NP_001028895.1 Q6ZNC4 ZN704_HUMAN zinc finger protein 704 283 intracellular zinc ion binding p.T283T(1) lung(9)|skin(1)|upper_aerodigestive_tract(1) 11 all_cancers(3;8.53e-08)|all_epithelial(4;4.59e-10)|Breast(3;2.56e-06)|Lung NSC(7;2.58e-06)|all_lung(9;9.4e-06) BRCA - Breast invasive adenocarcinoma(6;0.00401)|Epithelial(68;0.00448)|all cancers(69;0.0277) ACTTAGTCTCCGTTTTGGCAC 0.577000 52 80 0 0 1 0 0 RP13-996F3.4 0 broad.mit.edu 37 15 83014106 83014106 + Silent SNP T T C TCGA-HT-7676-01A-11D-2395-08 TCGA-HT-7676-10B-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx f7e2e119-549c-4b01-9587-b0227f5b0d55 f0d2df47-aeac-49c2-a537-641c574a3d9e g.chr15:83014106T>C ENST00000557886.1 - 6 576 c.477A>G c.(475-477)gtA>gtG p.V159V p.V159V(12) endometrium(6)|kidney(5)|prostate(1) 12 GTAGCTGCTCTACCTTAGATG 0.498000 3 9 0 0 1 0 0 FOXR1 283150 broad.mit.edu 37 11 118851213 118851213 + Missense_Mutation SNP T T C TCGA-HT-7676-01A-11D-2395-08 TCGA-HT-7676-10B-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx f7e2e119-549c-4b01-9587-b0227f5b0d55 f0d2df47-aeac-49c2-a537-641c574a3d9e g.chr11:118851213T>C ENST00000317011.3 + 5 850 c.625T>C c.(625-627)Ttt>Ctt p.F209L NM_181721.2 NP_859072.1 Q6PIV2 FOXR1_HUMAN forkhead box R1 209 embryo development|organ development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development 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 NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1) 16 all_hematologic(175;0.0839) Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;7.62e-05) GCACTTCCCCTTTTTCCGGAC 0.562000 5 157 0 0 1 0 0 KRT20 54474 broad.mit.edu 37 17 39041356 39041356 + Missense_Mutation SNP G G A TCGA-HT-7676-01A-11D-2395-08 TCGA-HT-7676-10B-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx f7e2e119-549c-4b01-9587-b0227f5b0d55 f0d2df47-aeac-49c2-a537-641c574a3d9e g.chr17:39041356G>A ENST00000167588.3 - 1 123 c.82C>T c.(82-84)Cgc>Tgc p.R28C NM_019010.2 NP_061883.1 P35900 K1C20_HUMAN keratin 20 28 Head. apoptosis|intermediate filament organization Golgi apparatus|intermediate filament protein binding|structural constituent of cytoskeleton NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|skin(1) 14 Breast(137;0.000301)|Ovarian(249;0.15) GTCCCGAGGCGCTGCATGCCC 0.597000 25 33 0 0 1 0 0 SEMA4B 10509 broad.mit.edu 37 15 90768923 90768923 + Missense_Mutation SNP G G A TCGA-HT-7676-01A-11D-2395-08 TCGA-HT-7676-10B-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx f7e2e119-549c-4b01-9587-b0227f5b0d55 f0d2df47-aeac-49c2-a537-641c574a3d9e g.chr15:90768923G>A ENST00000411539.2 + 12 1812 c.1552G>A c.(1552-1554)Gta>Ata p.V518I SEMA4B_ENST00000379122.3_Missense_Mutation_p.V513I|SEMA4B_ENST00000332496.6_Missense_Mutation_p.V518I NM_198925.2 NP_945119.1 sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4B NS(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|stomach(1) 12 Melanoma(11;0.00551)|Lung NSC(78;0.0125)|all_lung(78;0.0272) BRCA - Breast invasive adenocarcinoma(143;0.0107)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.217) ACACTCGGGCGTAGTCCAGGT 0.672000 4 5 0 0 1 0 0 IDH1 3417 broad.mit.edu 37 2 209113112 209113112 + Missense_Mutation SNP C C T rs121913500 TCGA-HT-7676-01A-11D-2395-08 TCGA-HT-7676-10B-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx f7e2e119-549c-4b01-9587-b0227f5b0d55 f0d2df47-aeac-49c2-a537-641c574a3d9e 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 28 41 0 0 1 0 0 KCNB1 3745 broad.mit.edu 37 20 48098921 48098921 + Missense_Mutation SNP C C T TCGA-HT-7676-01A-11D-2395-08 TCGA-HT-7676-10B-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx f7e2e119-549c-4b01-9587-b0227f5b0d55 f0d2df47-aeac-49c2-a537-641c574a3d9e g.chr20:48098921C>T ENST00000371741.4 - 1 263 c.97G>A c.(97-99)Gtc>Atc p.V33I NM_004975.2 NP_004966.1 Q14721 KCNB1_HUMAN potassium voltage-gated channel, Shab-related subfamily, member 1 33 energy reserve metabolic process|regulation of insulin secretion voltage-gated potassium channel complex protein binding|voltage-gated potassium channel activity central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(22)|pancreas(2)|prostate(7)|skin(4)|stomach(1)|urinary_tract(1) 53 BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166) TTGAGGCGGACCCGCCGAGAG 0.716000 2 0 0 0 1 0 0 GOLGA3 2802 broad.mit.edu 37 12 133353247 133353247 + Silent SNP T T C TCGA-HT-7676-01A-11D-2395-08 TCGA-HT-7676-10B-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx f7e2e119-549c-4b01-9587-b0227f5b0d55 f0d2df47-aeac-49c2-a537-641c574a3d9e g.chr12:133353247T>C ENST00000204726.3 - 21 4509 c.3951A>G c.(3949-3951)gaA>gaG p.E1317E GOLGA3_ENST00000456883.2_Silent_p.E1317E|GOLGA3_ENST00000450791.2_Silent_p.E1317E NM_005895.3 NP_005886.2 Q08378 GOGA3_HUMAN golgin A3 1317 Gln-rich. intra-Golgi vesicle-mediated transport Golgi cisterna membrane|Golgi transport complex protein binding|transporter activity breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 64 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.0176)|Lung NSC(355;0.204) OV - Ovarian serous cystadenocarcinoma(86;2.27e-08)|Epithelial(86;3.34e-07)|all cancers(50;9.4e-06) GCCCTTCCAGTTCCTTCCTGC 0.567000 4 158 0 0 1 0 0 PLCB2 5330 broad.mit.edu 37 15 40587142 40587142 + Missense_Mutation SNP G G A TCGA-HT-7676-01A-11D-2395-08 TCGA-HT-7676-10B-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx f7e2e119-549c-4b01-9587-b0227f5b0d55 f0d2df47-aeac-49c2-a537-641c574a3d9e g.chr15:40587142G>A ENST00000260402.3 - 18 2150 c.1901C>T c.(1900-1902)aCg>aTg p.T634M PLCB2_ENST00000456256.2_Missense_Mutation_p.T634M|PLCB2_ENST00000557821.1_Missense_Mutation_p.T630M NM_004573.2 NP_004564.2 Q00722 PLCB2_HUMAN phospholipase C, beta 2 634 PI-PLC Y-box. activation of phospholipase C activity|intracellular signal transduction|lipid catabolic process|phospholipid metabolic process|synaptic transmission cytosol calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(4)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(3) 39 all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117) GBM - Glioblastoma multiforme(113;9.38e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0508) CTCACCCATCGTCTGGAAGTT 0.582000 37 54 0 0 1 0 0 AHRR 57491 broad.mit.edu 37 5 423984 423984 + Silent SNP C C G TCGA-HT-7676-01A-11D-2395-08 TCGA-HT-7676-10B-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx f7e2e119-549c-4b01-9587-b0227f5b0d55 f0d2df47-aeac-49c2-a537-641c574a3d9e g.chr5:423984C>G ENST00000316418.5 + 7 656 c.612C>G c.(610-612)ctC>ctG p.L204L AHRR_ENST00000505113.1_Silent_p.L204L|AHRR_ENST00000512529.1_Silent_p.L50L|AHRR_ENST00000506456.1_Silent_p.L60L NM_020731.4 NP_065782.2 A9YTQ3 AHRR_HUMAN aryl-hydrocarbon receptor repressor 204 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|signal transducer activity breast(2)|endometrium(4)|large_intestine(1)|lung(12)|prostate(1) 20 Epithelial(17;0.0011)|OV - Ovarian serous cystadenocarcinoma(19;0.00353)|all cancers(22;0.00354)|Lung(60;0.0863) GGAGGCTGCTCAGGGCCCAGG 0.652000 46 47 0 0 1 0 0 KIAA1009 22832 broad.mit.edu 37 6 84896080 84896080 + Silent SNP T T C TCGA-HT-7676-01A-11D-2395-08 TCGA-HT-7676-10B-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx f7e2e119-549c-4b01-9587-b0227f5b0d55 f0d2df47-aeac-49c2-a537-641c574a3d9e g.chr6:84896080T>C ENST00000403245.3 - 12 1485 c.1371A>G c.(1369-1371)tcA>tcG p.S457S KIAA1009_ENST00000257766.4_Silent_p.S381S|KIAA1009_ENST00000461137.1_5'UTR NM_014895.2 NP_055710.2 Q5TB80 QN1_HUMAN KIAA1009 457 cell division|mitosis centrosome|nucleus|plasma membrane|spindle protein binding breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(17)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 43 all_cancers(76;1.5e-06)|Acute lymphoblastic leukemia(125;2.69e-07)|all_hematologic(105;0.000151)|all_epithelial(107;0.00258) BRCA - Breast invasive adenocarcinoma(397;0.089) GAGATAATGATGAAGAATTAA 0.279000 18 34 0 0 1 0 0 OR13A1 79290 broad.mit.edu 37 10 45799361 45799361 + Silent SNP G G A TCGA-HT-7676-01A-11D-2395-08 TCGA-HT-7676-10B-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx f7e2e119-549c-4b01-9587-b0227f5b0d55 f0d2df47-aeac-49c2-a537-641c574a3d9e g.chr10:45799361G>A ENST00000553795.1 - 4 818 c.510C>T c.(508-510)tgC>tgT p.C170C OR13A1_ENST00000374401.2_Silent_p.C170C|OR13A1_ENST00000536058.1_Silent_p.C170C NM_001004297.2 NP_001004297.2 Q8NGR1 O13A1_HUMAN olfactory receptor, family 13, subfamily A, member 1 170 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|skin(2)|urinary_tract(1) 19 TGTTGACGGCGCAGAGCAGCC 0.607000 35 52 0 0 1 0 0 KBTBD6 89890 broad.mit.edu 37 13 41705440 41705440 + Missense_Mutation SNP G G T TCGA-HT-7676-01A-11D-2395-08 TCGA-HT-7676-10B-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx f7e2e119-549c-4b01-9587-b0227f5b0d55 f0d2df47-aeac-49c2-a537-641c574a3d9e g.chr13:41705440G>T ENST00000379485.1 - 1 1442 c.1208C>A c.(1207-1209)aCa>aAa p.T403K KBTBD6_ENST00000499385.2_Missense_Mutation_p.T337K NM_152903.4 NP_690867.3 Q86V97 KBTB6_HUMAN kelch repeat and BTB (POZ) domain containing 6 403 protein binding p.T403K(7) NS(1)|breast(1)|endometrium(8)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|skin(4)|urinary_tract(4) 43 Lung NSC(96;4.52e-06)|Breast(139;0.00123)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114) all cancers(112;4.08e-09)|Epithelial(112;4.74e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000131)|GBM - Glioblastoma multiforme(144;0.000876)|BRCA - Breast invasive adenocarcinoma(63;0.0673) CCAGAGGTCTGTCCTGGGCTG 0.507000 5 161 1.06961e-07 1.10107e-07 1 1 0 TPP2 7174 broad.mit.edu 37 13 103328687 103328687 + Missense_Mutation SNP G G A TCGA-HT-7676-01A-11D-2395-08 TCGA-HT-7676-10B-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx f7e2e119-549c-4b01-9587-b0227f5b0d55 f0d2df47-aeac-49c2-a537-641c574a3d9e g.chr13:103328687G>A ENST00000376052.3 + 29 3637 c.3621G>A c.(3619-3621)atG>atA p.M1207I TPP2_ENST00000466153.1_3'UTR|TPP2_ENST00000376065.4_Missense_Mutation_p.M1194I P29144 TPP2_HUMAN tripeptidyl peptidase II 1194 proteolysis cytoplasm|nucleus aminopeptidase activity|serine-type endopeptidase activity|tripeptidyl-peptidase activity breast(2)|endometrium(5)|kidney(2)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 52 all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184) TAAATAAAATGTATGGGAGAG 0.264000 4 26 0 0 1 0 0 PAPPA2 60676 broad.mit.edu 37 1 176734861 176734861 + Missense_Mutation SNP C C T TCGA-HT-7676-01A-11D-2395-08 TCGA-HT-7676-10B-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx f7e2e119-549c-4b01-9587-b0227f5b0d55 f0d2df47-aeac-49c2-a537-641c574a3d9e g.chr1:176734861C>T ENST00000367662.3 + 15 5375 c.4211C>T c.(4210-4212)gCt>gTt p.A1404V NM_020318.2 NP_064714.2 Q9BXP8 PAPP2_HUMAN pappalysin 2 1404 Sushi 1. cell differentiation|proteolysis|regulation of cell growth extracellular region|intracellular|membrane metalloendopeptidase activity|zinc ion binding NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1) 226 CTTGATCATGCTGATGTGGTG 0.507000 17 116 0 0 1 0 0 LL22NC03-80A10.6 0 broad.mit.edu 37 22 22664056 22664056 + RNA SNP T T C rs3178309 TCGA-HT-7676-01A-11D-2395-08 TCGA-HT-7676-10B-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx f7e2e119-549c-4b01-9587-b0227f5b0d55 f0d2df47-aeac-49c2-a537-641c574a3d9e g.chr22:22664056T>C ENST00000426066.1 + 0 623 NR_027293.1 ATAAAGTATATGATTTTGTGT 0.348000 4 55 0 0 1 0 0 ETV5 2119 broad.mit.edu 37 3 185769871 185769871 + Missense_Mutation SNP T T C TCGA-HT-7676-01A-11D-2395-08 TCGA-HT-7676-10B-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx f7e2e119-549c-4b01-9587-b0227f5b0d55 f0d2df47-aeac-49c2-a537-641c574a3d9e g.chr3:185769871T>C ENST00000306376.5 - 12 1505 c.1259A>G c.(1258-1260)gAc>gGc p.D420G ETV5_ENST00000434744.1_Missense_Mutation_p.D420G|ETV5_ENST00000537818.1_Missense_Mutation_p.D462G|ETV5_ENST00000480706.1_5'UTR NM_004454.2 NP_004445.1 P41161 ETV5_HUMAN ets variant 5 420 cellular response to oxidative stress nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding breast(2)|cervix(1)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2) 28 all_cancers(143;4.06e-12)|Ovarian(172;0.0386)|Breast(254;0.247) OV - Ovarian serous cystadenocarcinoma(80;1.62e-24) GCTCAGCTTGTCATAGTTCAT 0.522000 T """TMPRSS2, SCL45A3""" Prostate 13 110 0 0 1 0 0 ZADH2 284273 broad.mit.edu 37 18 72913406 72913406 + Missense_Mutation SNP C C T TCGA-HT-7676-01A-11D-2395-08 TCGA-HT-7676-10B-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx f7e2e119-549c-4b01-9587-b0227f5b0d55 f0d2df47-aeac-49c2-a537-641c574a3d9e g.chr18:72913406C>T ENST00000322342.3 - 2 1388 c.1099G>A c.(1099-1101)Gtt>Att p.V367I ZADH2_ENST00000537114.2_Missense_Mutation_p.V244I NM_175907.4 NP_787103.1 Q8N4Q0 ZADH2_HUMAN zinc binding alcohol dehydrogenase domain containing 2 367 peroxisome oxidoreductase activity|zinc ion binding endometrium(3)|large_intestine(3)|lung(8)|skin(1) 15 Esophageal squamous(42;0.131)|Prostate(75;0.155) READ - Rectum adenocarcinoma(2;0.0276)|BRCA - Breast invasive adenocarcinoma(31;0.216) GGTAATTCAACTACAATTTTT 0.398000 22 38 0 0 1 0 0 ZDHHC14 79683 broad.mit.edu 37 6 158014166 158014166 + Missense_Mutation SNP G G C TCGA-HT-7676-01A-11D-2395-08 TCGA-HT-7676-10B-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx f7e2e119-549c-4b01-9587-b0227f5b0d55 f0d2df47-aeac-49c2-a537-641c574a3d9e g.chr6:158014166G>C ENST00000359775.5 + 3 1442 c.553G>C c.(553-555)Gat>Cat p.D185H ZDHHC14_ENST00000414563.2_Missense_Mutation_p.D185H|ZDHHC14_ENST00000341375.8_3'UTR Q8IZN3 ZDH14_HUMAN zinc finger, DHHC-type containing 14 185 integral to membrane acyltransferase activity|zinc ion binding central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(8)|ovary(1)|skin(1) 17 Breast(66;0.00586)|Ovarian(120;0.123) OV - Ovarian serous cystadenocarcinoma(65;2.9e-17)|BRCA - Breast invasive adenocarcinoma(81;5.8e-05) CAGCCTTTGTGATAACTGCGT 0.582000 4 84 0 0 1 0 0 FER1L6 654463 broad.mit.edu 37 8 125113341 125113341 + Missense_Mutation SNP G G T TCGA-HT-7676-01A-11D-2395-08 TCGA-HT-7676-10B-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx f7e2e119-549c-4b01-9587-b0227f5b0d55 f0d2df47-aeac-49c2-a537-641c574a3d9e g.chr8:125113341G>T ENST00000522917.1 + 38 5093 c.4887G>T c.(4885-4887)tgG>tgT p.W1629C FER1L6-AS2_ENST00000520031.1_RNA|FER1L6_ENST00000399018.1_Missense_Mutation_p.W1629C NM_001039112.2 NP_001034201.2 Q2WGJ9 FR1L6_HUMAN fer-1-like 6 (C. elegans) 1629 C2 6. integral to membrane NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1) 118 Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741) STAD - Stomach adenocarcinoma(47;0.00186) TTTTTAGGTGGTTAAAGGGCT 0.408000 21 36 2.27731e-05 2.27731e-05 1 1 0 CROCCP2 0 broad.mit.edu 37 1 16946396 16946396 + RNA SNP C C T rs367013 byFrequency TCGA-HT-7676-01A-11D-2395-08 TCGA-HT-7676-10B-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx f7e2e119-549c-4b01-9587-b0227f5b0d55 f0d2df47-aeac-49c2-a537-641c574a3d9e g.chr1:16946396C>T ENST00000412962.1 - 0 1123 TGCTGCAGGGCAGCAATCTCC 0.667000 8 55 0 0 1 0 0 PMEL 6490 broad.mit.edu 37 12 56351068 56351068 + Missense_Mutation SNP G G A TCGA-HT-7676-01A-11D-2395-08 TCGA-HT-7676-10B-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx f7e2e119-549c-4b01-9587-b0227f5b0d55 f0d2df47-aeac-49c2-a537-641c574a3d9e g.chr12:56351068G>A ENST00000548747.1 - 6 1681 c.1019C>T c.(1018-1020)gCg>gTg p.A340V PMEL_ENST00000548493.1_Missense_Mutation_p.A340V|PMEL_ENST00000536427.1_Missense_Mutation_p.A340V|PMEL_ENST00000550447.1_Intron|PMEL_ENST00000449260.2_Missense_Mutation_p.A340V|PMEL_ENST00000550464.1_Missense_Mutation_p.A254V|PMEL_ENST00000539511.1_Missense_Mutation_p.A254V|PMEL_ENST00000360714.4_Missense_Mutation_p.A340V|PMEL_ENST00000552882.1_Missense_Mutation_p.A340V P40967 PMEL_HUMAN premelanosome protein 340 10 X 13 AA approximate tandem repeats, RPT domain. melanin biosynthetic process|melanosome organization endoplasmic reticulum membrane|extracellular region|Golgi apparatus|integral to membrane|melanosome|multivesicular body membrane|plasma membrane protein binding NS(1)|breast(2)|endometrium(2)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 TGCAGTTGGCGCCTGACCAGG 0.577000 28 46 0 0 1 0 0 AC074391.1 0 broad.mit.edu 37 2 65738847 65738847 + RNA DEL T T - rs111377658 TCGA-HT-7676-01A-11D-2395-08 TCGA-HT-7676-10B-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx f7e2e119-549c-4b01-9587-b0227f5b0d55 f0d2df47-aeac-49c2-a537-641c574a3d9e g.chr2:65738847delT ENST00000377977.3 + 0 862 ttttTTGAAATTTTTTTTTTT 0.294 5 3 --- --- --- --- AC018890.6 0 broad.mit.edu 37 2 175585079 175585079 + RNA DEL A A - TCGA-HT-7676-01A-11D-2395-08 TCGA-HT-7676-10B-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx f7e2e119-549c-4b01-9587-b0227f5b0d55 f0d2df47-aeac-49c2-a537-641c574a3d9e g.chr2:175585079delA ENST00000442996.1 + 0 217 TTTCATTCTCAAAAAAAAAAA 0.368 OREG0015078 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 3 5 --- --- --- --- C3orf30 152405 broad.mit.edu 37 3 118870094 118870094 + Frame_Shift_Del DEL T T - TCGA-HT-7676-01A-11D-2395-08 TCGA-HT-7676-10B-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx f7e2e119-549c-4b01-9587-b0227f5b0d55 f0d2df47-aeac-49c2-a537-641c574a3d9e g.chr3:118870094delT ENST00000295622.1 + 3 1606 c.1566delT c.(1564-1566)tafs p.Y522fs RP11-484M3.5_ENST00000490594.1_Intron NM_152539.2 NP_689752.2 Q96M34 CC030_HUMAN chromosome 3 open reading frame 30 522 NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(20)|ovary(2)|prostate(1)|urinary_tract(1) 34 GBM - Glioblastoma multiforme(114;0.222) ACTTAGTCTATGAAAAGCCAG 0.358 12 274 --- --- --- --- ROBO3 64221 broad.mit.edu 37 11 124745490 124745491 + Frame_Shift_Ins INS - - G rs140619532 by1000genomes TCGA-HT-7676-01A-11D-2395-08 TCGA-HT-7676-10B-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx f7e2e119-549c-4b01-9587-b0227f5b0d55 f0d2df47-aeac-49c2-a537-641c574a3d9e g.chr11:124745490_124745491insG ENST00000397801.1 + 15 2522_2523 c.2330_2331insG c.(2329-2331)ggcfs p.G777fs ROBO3_ENST00000538940.1_Frame_Shift_Ins_p.G755fs NM_022370.3 NP_071765.2 Q96MS0 ROBO3_HUMAN roundabout, axon guidance receptor, homolog 3 (Drosophila) 777 Fibronectin type-III 3. axon midline choice point recognition integral to membrane receptor activity breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1) 35 all_hematologic(175;0.215) Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|Breast(109;0.0481)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0296) GGAGTGGCGGTGGCCTTGGGGG 0.604 8 65 --- --- --- --- DNM1P47 0 broad.mit.edu 37 15 102306788 102306790 + RNA DEL GTA GTA - TCGA-HT-7676-01A-11D-2395-08 TCGA-HT-7676-10B-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx f7e2e119-549c-4b01-9587-b0227f5b0d55 f0d2df47-aeac-49c2-a537-641c574a3d9e g.chr15:102306788_102306790delGTA ENST00000561463.1 + 0 13180 TTAGTCTGTTGTAGTGGTGAGCT 0.507 2 4 --- --- --- --- INO80E 283899 broad.mit.edu 37 16 30016652 30016653 + Frame_Shift_Ins INS - - C TCGA-HT-7676-01A-11D-2395-08 TCGA-HT-7676-10B-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx f7e2e119-549c-4b01-9587-b0227f5b0d55 f0d2df47-aeac-49c2-a537-641c574a3d9e g.chr16:30016652_30016653insC ENST00000563197.1 + 7 1641_1642 c.624_625insC c.(622-627)atccccfs p.IP208fs INO80E_ENST00000304516.7_Frame_Shift_Ins_p.IP169fs|INO80E_ENST00000567705.1_Frame_Shift_Ins_p.IP191fs NM_173618.1 NP_775889.1 Q8NBZ0 IN80E_HUMAN INO80 complex subunit E 208 Pro-rich. DNA recombination|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent Ino80 complex p.T212fs*3(1) endometrium(1)|large_intestine(2)|lung(1)|skin(1)|urinary_tract(1) 6 CCCCTAAGATGCCCCCCCCCAC 0.673 2 4 --- --- --- --- CTCFL 140690 broad.mit.edu 37 20 56099187 56099187 + Frame_Shift_Del DEL T T - TCGA-HT-7676-01A-11D-2395-08 TCGA-HT-7676-10B-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx f7e2e119-549c-4b01-9587-b0227f5b0d55 f0d2df47-aeac-49c2-a537-641c574a3d9e g.chr20:56099187delT ENST00000426658.2 - 1 736 c.75delA c.(73-75)aafs p.K25fs CTCFL_ENST00000539382.1_Intron|CTCFL_ENST00000502686.2_Intron|CTCFL_ENST00000243914.3_Frame_Shift_Del_p.K25fs|CTCFL_ENST00000433949.2_Frame_Shift_Del_p.K25fs|CTCFL_ENST00000432255.2_Frame_Shift_Del_p.K25fs|CTCFL_ENST00000429804.2_Frame_Shift_Del_p.K25fs|CTCFL_ENST00000423479.2_Frame_Shift_Del_p.K25fs|CTCFL_ENST00000371196.2_Frame_Shift_Del_p.K25fs|CTCFL_ENST00000422869.2_Frame_Shift_Del_p.K25fs|CTCFL_ENST00000422109.2_Frame_Shift_Del_p.K25fs Q8NI51 CTCFL_HUMAN CCCTC-binding factor (zinc finger protein)-like 25 cell cycle|DNA methylation involved in gamete generation|histone methylation|positive regulation of transcription, DNA-dependent|regulation of gene expression by genetic imprinting|regulation of histone H3-K4 methylation|transcription, DNA-dependent cytoplasm|nucleus histone binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding NS(1)|breast(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(28)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 58 Lung NSC(12;0.00132)|all_lung(29;0.00433)|Melanoma(10;0.242) BRCA - Breast invasive adenocarcinoma(13;3.95e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.09e-07) CCTTCAGGCCTTTTTCCGGCA 0.502 7 475 --- --- --- --- ATRX 546 broad.mit.edu 37 X 76855230 76855230 + Frame_Shift_Del DEL G G - TCGA-HT-7676-01A-11D-2395-08 TCGA-HT-7676-10B-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx f7e2e119-549c-4b01-9587-b0227f5b0d55 f0d2df47-aeac-49c2-a537-641c574a3d9e g.chrX:76855230delG ENST00000373344.5 - 24 5971 c.5757delC c.(5755-5757)tcfs p.S1919fs ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Frame_Shift_Del_p.S1881fs NM_000489.3 NP_000480.2 P46100 ATRX_HUMAN alpha thalassemia/mental retardation syndrome X-linked 1919 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) TTAAACTCATGGAGGTTTCAT 0.338 """Mis, F, N""" """Pancreatic neuroendocrine tumors, paediatric GBM""" ATR-X (alpha thalassemia/mental retardation) syndrome 22 8 --- --- --- ---