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 SGCZ 137868 broad.mit.edu 37 8 14181681 14181681 + Silent SNP C C T TCGA-E1-A7Z6-01A-11D-A34J-08 TCGA-E1-A7Z6-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97b400be-5f0e-4a7b-85d0-5eb0c777f114 8283b058-d6c7-4250-b9b5-bf996e71f287 g.chr8:14181681C>T ENST00000382080.1 - 3 982 c.267G>A c.(265-267)aaG>aaA p.K89K SGCZ_ENST00000421524.2_Intron NM_139167.2 NP_631906.2 Q96LD1 SGCZ_HUMAN sarcoglycan, zeta 76 cytoskeleton organization cytoplasm|cytoskeleton|integral to membrane|sarcolemma NS(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(14)|lung(15)|ovary(2)|prostate(3)|skin(5)|upper_aerodigestive_tract(1) 47 all cancers(2;0.000643)|Colorectal(111;0.00674)|COAD - Colon adenocarcinoma(73;0.0193)|GBM - Glioblastoma multiforme(2;0.026) GTCGGATTCCCTTCTTGGTGA 0.358000 14 22 0 0 1 0 0 RPP40 10799 broad.mit.edu 37 6 5002336 5002336 + Splice_Site SNP T T A TCGA-E1-A7Z6-01A-11D-A34J-08 TCGA-E1-A7Z6-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97b400be-5f0e-4a7b-85d0-5eb0c777f114 8283b058-d6c7-4250-b9b5-bf996e71f287 g.chr6:5002336T>A ENST00000380051.2 - 2 311 c.268_splice c.e2+1 p.K89_splice RPP40_ENST00000319533.5_Splice_Site_p.K89_splice|RPP40_ENST00000464646.1_Splice_Site_p.K29_splice NM_006638.2 NP_006629.2 O75818 RPP40_HUMAN ribonuclease P/MRP 40kDa subunit 89 tRNA processing nucleolar ribonuclease P complex protein binding|ribonuclease P activity NS(1)|breast(1)|large_intestine(4)|lung(4)|ovary(1)|skin(2)|urinary_tract(1) 14 Ovarian(93;0.11) all_hematologic(90;0.0895) TTTTCTTACCTTTCTTTATAA 0.408000 10 143 0 0 1 0 0 NPAT 4863 broad.mit.edu 37 11 108043104 108043104 + Silent SNP A A G TCGA-E1-A7Z6-01A-11D-A34J-08 TCGA-E1-A7Z6-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97b400be-5f0e-4a7b-85d0-5eb0c777f114 8283b058-d6c7-4250-b9b5-bf996e71f287 g.chr11:108043104A>G ENST00000278612.8 - 13 2712 c.2607T>C c.(2605-2607)gcT>gcC p.A869A NM_002519.2 NP_002510.2 Q14207 NPAT_HUMAN nuclear protein, ataxia-telangiectasia locus 869 positive regulation of transcription, DNA-dependent|regulation of transcription involved in G1/S phase of mitotic cell cycle Cajal body protein C-terminus binding|protein N-terminus binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(21)|ovary(2)|prostate(2)|skin(5) 46 all_cancers(61;2.31e-10)|all_epithelial(67;1.11e-06)|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) BRCA - Breast invasive adenocarcinoma(274;1.05e-05)|Epithelial(105;3.01e-05)|all cancers(92;0.000816)|Colorectal(284;0.116) TCACACAGGTAGCTATCAGAA 0.433000 4 108 0 0 1 0 0 TPO 7173 broad.mit.edu 37 2 1437212 1437212 + Missense_Mutation SNP A A G TCGA-E1-A7Z6-01A-11D-A34J-08 TCGA-E1-A7Z6-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97b400be-5f0e-4a7b-85d0-5eb0c777f114 8283b058-d6c7-4250-b9b5-bf996e71f287 g.chr2:1437212A>G ENST00000345913.4 + 4 273 c.182A>G c.(181-183)aAc>aGc p.N61S TPO_ENST00000382198.1_Missense_Mutation_p.N61S|TPO_ENST00000337415.3_Missense_Mutation_p.N61S|TPO_ENST00000497517.2_Intron|TPO_ENST00000329066.4_Missense_Mutation_p.N61S|TPO_ENST00000349624.3_Missense_Mutation_p.N61S|TPO_ENST00000539820.1_Missense_Mutation_p.N61S|TPO_ENST00000382269.3_Missense_Mutation_p.N61S|TPO_ENST00000382201.3_Missense_Mutation_p.N61S|TPO_ENST00000346956.3_Missense_Mutation_p.N61S NM_000547.5 NP_000538.3 P07202 PERT_HUMAN thyroid peroxidase 61 cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process cell surface|cytoplasm|integral to plasma membrane calcium ion binding|heme binding|iodide peroxidase activity breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 95 all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627) all_cancers(51;0.0338) all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12) Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550) TGCCATAGAAACCTCAAGAAA 0.363000 3 75 0 0 1 0 0 OR10J5 127385 broad.mit.edu 37 1 159505472 159505472 + Missense_Mutation SNP G G C TCGA-E1-A7Z6-01A-11D-A34J-08 TCGA-E1-A7Z6-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97b400be-5f0e-4a7b-85d0-5eb0c777f114 8283b058-d6c7-4250-b9b5-bf996e71f287 g.chr1:159505472G>C ENST00000334857.2 - 1 370 c.326C>G c.(325-327)aCt>aGt p.T109S NM_001004469.1 NP_001004469.1 Q8NHC4 O10J5_HUMAN olfactory receptor, family 10, subfamily J, member 5 109 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 22 all_hematologic(112;0.0429) GCAATTATTAGTGGCCAAGAT 0.458000 14 55 0 0 1 0 0 ZCCHC16 340595 broad.mit.edu 37 X 111698669 111698669 + Missense_Mutation SNP T T C TCGA-E1-A7Z6-01A-11D-A34J-08 TCGA-E1-A7Z6-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97b400be-5f0e-4a7b-85d0-5eb0c777f114 8283b058-d6c7-4250-b9b5-bf996e71f287 g.chrX:111698669T>C ENST00000340433.2 + 1 943 c.713T>C c.(712-714)tTg>tCg p.L238S NM_001004308.2 NP_001004308.2 Q6ZR62 ZCH16_HUMAN zinc finger, CCHC domain containing 16 238 nucleic acid binding|zinc ion binding cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 27 TTGGCTTCCTTGATCCAACAC 0.542000 112 151 0 0 1 0 0 ANK2 287 broad.mit.edu 37 4 114239726 114239726 + Silent SNP C C T TCGA-E1-A7Z6-01A-11D-A34J-08 TCGA-E1-A7Z6-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97b400be-5f0e-4a7b-85d0-5eb0c777f114 8283b058-d6c7-4250-b9b5-bf996e71f287 g.chr4:114239726C>T ENST00000357077.4 + 26 2903 c.2850C>T c.(2848-2850)ggC>ggT p.G950G ANK2_ENST00000509550.1_Silent_p.G159G|ANK2_ENST00000506722.1_Silent_p.G929G|ANK2_ENST00000264366.6_Silent_p.G950G|ANK2_ENST00000394537.3_Silent_p.G950G NM_001148.4 NP_001139.3 Q01484 ANK2_HUMAN ankyrin 2, neuronal 950 axon guidance|signal transduction apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere protein binding NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10) 248 Ovarian(17;0.0448)|Hepatocellular(203;0.218) OV - Ovarian serous cystadenocarcinoma(123;4.92e-05) TAAGCTGGGGCACTGAGAACT 0.403000 10 10 0 0 1 0 0 MORC4 79710 broad.mit.edu 37 X 106229295 106229295 + Silent SNP A A G TCGA-E1-A7Z6-01A-11D-A34J-08 TCGA-E1-A7Z6-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97b400be-5f0e-4a7b-85d0-5eb0c777f114 8283b058-d6c7-4250-b9b5-bf996e71f287 g.chrX:106229295A>G ENST00000355610.4 - 4 718 c.444T>C c.(442-444)gtT>gtC p.V148V MORC4_ENST00000255495.7_Silent_p.V148V|MORC4_ENST00000535534.1_Intron NM_001085354.2|NM_024657.4 NP_001078823.1|NP_078933.3 Q8TE76 MORC4_HUMAN MORC family CW-type zinc finger 4 148 ATP binding|zinc ion binding endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 28 ATAGAAGTCCAACAGTGAGAG 0.473000 81 113 0 0 1 0 0 UTP6 55813 broad.mit.edu 37 17 30216366 30216366 + Missense_Mutation SNP C C T TCGA-E1-A7Z6-01A-11D-A34J-08 TCGA-E1-A7Z6-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97b400be-5f0e-4a7b-85d0-5eb0c777f114 8283b058-d6c7-4250-b9b5-bf996e71f287 g.chr17:30216366C>T ENST00000261708.4 - 7 618 c.481G>A c.(481-483)Gca>Aca p.A161T UTP6_ENST00000490218.2_5'UTR NM_018428.2 NP_060898.2 Q9NYH9 UTP6_HUMAN UTP6, small subunit (SSU) processome component, homolog (yeast) 161 rRNA processing nucleolus binding breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|skin(1) 21 all_hematologic(16;0.0149)|Ovarian(249;0.021)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0257)|Breast(31;0.231) AGTTGCCTTGCGCTTTCTGAA 0.393000 22 199 0 0 1 0 0 ACSM5 54988 broad.mit.edu 37 16 20422897 20422897 + Missense_Mutation SNP G G C TCGA-E1-A7Z6-01A-11D-A34J-08 TCGA-E1-A7Z6-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97b400be-5f0e-4a7b-85d0-5eb0c777f114 8283b058-d6c7-4250-b9b5-bf996e71f287 g.chr16:20422897G>C ENST00000331849.4 + 2 238 c.91G>C c.(91-93)Gtt>Ctt p.V31L ACSM5_ENST00000575584.1_Missense_Mutation_p.V31L NM_017888.2 NP_060358.2 Q6NUN0 ACSM5_HUMAN acyl-CoA synthetase medium-chain family member 5 31 fatty acid metabolic process mitochondrial matrix ATP binding|butyrate-CoA ligase activity|GTP binding|metal ion binding breast(1)|endometrium(6)|kidney(2)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(3)|urinary_tract(1) 51 ACCTCTACCTGTTCCTCAGAA 0.577000 13 24 0 0 1 0 0 IDH1 3417 broad.mit.edu 37 2 209113112 209113112 + Missense_Mutation SNP C C T rs121913500 TCGA-E1-A7Z6-01A-11D-A34J-08 TCGA-E1-A7Z6-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97b400be-5f0e-4a7b-85d0-5eb0c777f114 8283b058-d6c7-4250-b9b5-bf996e71f287 g.chr2:209113112C>T ENST00000415913.1 - 4 776 c.395G>A c.(394-396)cGt>cAt p.R132H IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_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 25 48 0 0 1 0 0 TP53 7157 broad.mit.edu 37 17 7577121 7577121 + Missense_Mutation SNP G G A rs121913343 TCGA-E1-A7Z6-01A-11D-A34J-08 TCGA-E1-A7Z6-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97b400be-5f0e-4a7b-85d0-5eb0c777f114 8283b058-d6c7-4250-b9b5-bf996e71f287 g.chr17:7577121G>A ENST00000420246.2 - 8 949 c.817C>T c.(817-819)Cgt>Tgt p.R273C TP53_ENST00000359597.4_Missense_Mutation_p.R273C|TP53_ENST00000269305.4_Missense_Mutation_p.R273C|TP53_ENST00000445888.2_Missense_Mutation_p.R273C|TP53_ENST00000413465.2_Intron|TP53_ENST00000455263.2_Missense_Mutation_p.R273C NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 273 Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity). R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; dbSNP:rs28934576).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions). 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.R273C(481)|p.R273S(16)|p.R273G(9)|p.0?(8)|p.?(2)|p.R273fs*72(2)|p.R273fs*33(2)|p.R273fs*32(2)|p.V272>?(2)|p.F270fs*72(1)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.E258fs*71(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.E271_R273delEVR(1)|p.V272_K292del21(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) GCACAAACACGCACCTCAAAG 0.542000 R273C(8MGBA_CENTRAL_NERVOUS_SYSTEM)|R273C(BL70_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(EFO27_OVARY)|R273C(KARPAS299_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(MFE319_ENDOMETRIUM)|R273C(NCIH1048_LUNG)|R273C(PANC0213_PANCREAS)|R273C(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(RDES_BONE)|R273C(RH30_SOFT_TISSUE)|R273C(RPMI8402_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SH10TC_STOMACH)|R273C(SJRH30_SOFT_TISSUE)|R273C(SUDHL4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SW1710_URINARY_TRACT)|R273C(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273C(TT2609C02_THYROID) 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) 22 4 0 0 1 0 0 COL6A6 131873 broad.mit.edu 37 3 130285651 130285651 + Missense_Mutation SNP T T C TCGA-E1-A7Z6-01A-11D-A34J-08 TCGA-E1-A7Z6-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97b400be-5f0e-4a7b-85d0-5eb0c777f114 8283b058-d6c7-4250-b9b5-bf996e71f287 g.chr3:130285651T>C ENST00000358511.6 + 4 1419 c.1388T>C c.(1387-1389)gTa>gCa p.V463A COL6A6_ENST00000453409.2_Missense_Mutation_p.V463A NM_001102608.1 NP_001096078.1 A6NMZ7 CO6A6_HUMAN collagen, type VI, alpha 6 463 Nonhelical region.|VWFA 3. axon guidance|cell adhesion collagen NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 134 TCAGAGGTGGTAGGGATGTTC 0.498000 4 51 0 0 1 0 0 NUP107 57122 broad.mit.edu 37 12 69085759 69085759 + Silent SNP G G C TCGA-E1-A7Z6-01A-11D-A34J-08 TCGA-E1-A7Z6-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97b400be-5f0e-4a7b-85d0-5eb0c777f114 8283b058-d6c7-4250-b9b5-bf996e71f287 g.chr12:69085759G>C ENST00000229179.4 + 5 647 c.315G>C c.(313-315)ctG>ctC p.L105L NUP107_ENST00000378905.2_Intron|NUP107_ENST00000539906.1_Silent_p.L76L NM_020401.2 NP_065134.1 P57740 NU107_HUMAN nucleoporin 107kDa 105 carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA export from nucleus|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction condensed chromosome kinetochore|cytosol|Nup107-160 complex nucleocytoplasmic transporter activity|protein binding NUP107/LGR5(2) breast(3)|endometrium(4)|kidney(4)|large_intestine(12)|lung(11)|prostate(1)|skin(2)|urinary_tract(2) 39 Breast(13;6.25e-06) Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.00694) TTACTAATCTGGATGACAGTA 0.368000 5 70 0 0 1 0 0 PTPRD 5789 broad.mit.edu 37 9 8341765 8341765 + Silent SNP C C T TCGA-E1-A7Z6-01A-11D-A34J-08 TCGA-E1-A7Z6-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97b400be-5f0e-4a7b-85d0-5eb0c777f114 8283b058-d6c7-4250-b9b5-bf996e71f287 g.chr9:8341765C>T ENST00000381196.4 - 37 5418 c.4875G>A c.(4873-4875)ttG>ttA p.L1625L PTPRD_ENST00000397611.3_Silent_p.L1215L|PTPRD_ENST00000360074.4_Silent_p.L1612L|PTPRD_ENST00000540109.1_Silent_p.L1625L|PTPRD_ENST00000537002.1_Silent_p.L1215L|PTPRD_ENST00000358503.5_Silent_p.L1603L|PTPRD_ENST00000486161.1_Silent_p.L1218L|PTPRD_ENST00000356435.5_Silent_p.L1625L|PTPRD_ENST00000397617.3_Silent_p.L1218L|PTPRD_ENST00000355233.5_Silent_p.L1219L|PTPRD_ENST00000397606.3_Silent_p.L1218L NM_002839.3 NP_002830.1 P23468 PTPRD_HUMAN protein tyrosine phosphatase, receptor type, D 1625 transmembrane receptor protein tyrosine phosphatase signaling pathway integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 168 all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824) all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119) TGTAGGCATACAAGTTTCTAG 0.403000 TSP Lung(15;0.13) 78 123 0 0 1 0 0 DOLK 22845 broad.mit.edu 37 9 131708674 131708674 + Silent SNP A A G TCGA-E1-A7Z6-01A-11D-A34J-08 TCGA-E1-A7Z6-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97b400be-5f0e-4a7b-85d0-5eb0c777f114 8283b058-d6c7-4250-b9b5-bf996e71f287 g.chr9:131708674A>G ENST00000372586.3 - 1 1224 c.909T>C c.(907-909)taT>taC p.Y303Y RP11-101E3.5_ENST00000482796.1_Intron NM_014908.3 NP_055723.1 Q9UPQ8 DOLK_HUMAN dolichol kinase 303 dolichyl diphosphate biosynthetic process|dolichyl monophosphate biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine integral to endoplasmic reticulum membrane|membrane fraction dolichol kinase activity breast(1)|large_intestine(5)|lung(3)|ovary(1)|urinary_tract(1) 11 GCAGAGACCAATAGGCTAGGA 0.602000 20 146 0 0 1 0 0 SMARCD3 6604 broad.mit.edu 37 7 150945585 150945585 + Missense_Mutation SNP G G C TCGA-E1-A7Z6-01A-11D-A34J-08 TCGA-E1-A7Z6-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97b400be-5f0e-4a7b-85d0-5eb0c777f114 8283b058-d6c7-4250-b9b5-bf996e71f287 g.chr7:150945585G>C ENST00000262188.8 - 1 474 c.64C>G c.(64-66)Ctg>Gtg p.L22V SMARCD3_ENST00000392811.2_Intron|SMARCD3_ENST00000477169.1_Intron|SMARCD3_ENST00000356800.2_Intron NM_001003801.1 NP_001003801.1 Q6STE5 SMRD3_HUMAN SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 3 22 cellular lipid metabolic process|chromatin modification|nervous system development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex nuclear hormone receptor binding|protein binding|transcription coactivator activity|transcription factor binding haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(6)|ovary(2) 15 OV - Ovarian serous cystadenocarcinoma(82;0.00448) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) CCATGGACCAGAAACTCAAAA 0.647000 88 88 0 0 1 0 0 MTMR8 55613 broad.mit.edu 37 X 63563595 63563595 + Missense_Mutation SNP C C G TCGA-E1-A7Z6-01A-11D-A34J-08 TCGA-E1-A7Z6-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97b400be-5f0e-4a7b-85d0-5eb0c777f114 8283b058-d6c7-4250-b9b5-bf996e71f287 g.chrX:63563595C>G ENST00000374852.3 - 8 938 c.871G>C c.(871-873)Gaa>Caa p.E291Q MTMR8_ENST00000453546.1_Missense_Mutation_p.E291Q|MTMR8_ENST00000478487.1_5'UTR NM_017677.3 NP_060147.2 Q96EF0 MTMR8_HUMAN myotubularin related protein 8 291 Myotubularin phosphatase. nuclear envelope protein tyrosine phosphatase activity p.0?(1) breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|skin(3) 37 GTTTTCAATTCACAAACTAAG 0.383000 15 18 0 0 1 0 0 KRT33A 3883 broad.mit.edu 37 17 39502820 39502820 + Missense_Mutation SNP G G A TCGA-E1-A7Z6-01A-11D-A34J-08 TCGA-E1-A7Z6-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97b400be-5f0e-4a7b-85d0-5eb0c777f114 8283b058-d6c7-4250-b9b5-bf996e71f287 g.chr17:39502820G>A ENST00000007735.3 - 6 1021 c.977C>T c.(976-978)gCg>gTg p.A326V NM_004138.3 NP_004129.2 O76009 KT33A_HUMAN keratin 33A 326 Coil 2.|Rod. intermediate filament protein binding|structural molecule activity endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2) 21 Breast(137;0.000496) GCGGATCTCCGCCAGCTGGGA 0.627000 4 83 0 0 1 0 0 SLC25A5 292 broad.mit.edu 37 X 118603879 118603879 + Missense_Mutation SNP G G A TCGA-E1-A7Z6-01A-11D-A34J-08 TCGA-E1-A7Z6-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97b400be-5f0e-4a7b-85d0-5eb0c777f114 8283b058-d6c7-4250-b9b5-bf996e71f287 g.chrX:118603879G>A ENST00000317881.8 + 2 483 c.367G>A c.(367-369)Gca>Aca p.A123T SLC25A5_ENST00000460013.1_3'UTR NM_001152.4 NP_001143.2 P05141 ADT2_HUMAN solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 5 123 chromosome segregation|energy reserve metabolic process|interspecies interaction between organisms|regulation of insulin secretion|viral reproduction integral to plasma membrane|mitochondrial inner membrane|mitochondrial nucleoid|MMXD complex adenine transmembrane transporter activity|protein binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|stomach(2) 12 Clodronate(DB00720) GGGTGGTGCCGCAGGGGCCAC 0.527000 4 151 0 0 1 0 0 CACYBP 27101 broad.mit.edu 37 1 174973950 174973950 + Splice_Site SNP G G A TCGA-E1-A7Z6-01A-11D-A34J-08 TCGA-E1-A7Z6-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97b400be-5f0e-4a7b-85d0-5eb0c777f114 8283b058-d6c7-4250-b9b5-bf996e71f287 g.chr1:174973950G>A ENST00000406752.1 + 2 216 c.216_splice c.e2+1 p.T72_splice CACYBP_ENST00000367679.2_Silent_p.T72T|CACYBP_ENST00000367681.2_Silent_p.T29T|CACYBP_ENST00000405362.1_Silent_p.T29T Q9HB71 CYBP_HUMAN calcyclin binding protein 72 Interaction with SIAH1. beta-catenin destruction complex protein homodimerization activity NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(1)|prostate(1) 11 CGGGCTATACGGTGAAAATCA 0.413000 17 64 0 0 1 0 0 UROD 7389 broad.mit.edu 37 1 45480412 45480412 + Missense_Mutation SNP T T C TCGA-E1-A7Z6-01A-11D-A34J-08 TCGA-E1-A7Z6-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97b400be-5f0e-4a7b-85d0-5eb0c777f114 8283b058-d6c7-4250-b9b5-bf996e71f287 g.chr1:45480412T>C ENST00000246337.4 + 8 898 c.779T>C c.(778-780)aTc>aCc p.I260T UROD_ENST00000494399.1_3'UTR NM_000374.4 NP_000365.3 P06132 DCUP_HUMAN uroporphyrinogen decarboxylase 260 I -> T (in FPCT; decrease of activity). cytosol|microtubule cytoskeleton|nucleus uroporphyrinogen decarboxylase activity endometrium(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1) 4 Acute lymphoblastic leukemia(166;0.155) TTCTAGATCATCTTTGCTAAG 0.522000 Porphyria Cutanea Tarda, Type II OREG0013449 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 4 37 0 0 1 0 0 RGAG4 340526 broad.mit.edu 37 X 71350457 71350457 + Missense_Mutation SNP G G A TCGA-E1-A7Z6-01A-11D-A34J-08 TCGA-E1-A7Z6-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97b400be-5f0e-4a7b-85d0-5eb0c777f114 8283b058-d6c7-4250-b9b5-bf996e71f287 g.chrX:71350457G>A ENST00000545866.1 - 1 1301 c.934C>T c.(934-936)Cgc>Tgc p.R312C NHSL2_ENST00000540800.1_Intron|RGAG4_ENST00000479991.1_Missense_Mutation_p.R312C Q5HYW3 RGAG4_HUMAN retrotransposon gag domain containing 4 312 cervix(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(8)|ovary(3)|skin(1) 24 Renal(35;0.156) TTGGGAACGCGCACTTTTCTT 0.483000 15 148 0 0 1 0 0 IGHG3 0 broad.mit.edu 37 14 106236175 106236175 + RNA SNP G G A TCGA-E1-A7Z6-01A-11D-A34J-08 TCGA-E1-A7Z6-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97b400be-5f0e-4a7b-85d0-5eb0c777f114 8283b058-d6c7-4250-b9b5-bf996e71f287 g.chr14:106236175G>A ENST00000390551.2 - 0 628 CCTCCACGCCGTCCACGTACC 0.607000 90 153 0 0 1 0 0 PRRC2A 7916 broad.mit.edu 37 6 31599148 31599148 + Nonsense_Mutation SNP C C T TCGA-E1-A7Z6-01A-11D-A34J-08 TCGA-E1-A7Z6-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97b400be-5f0e-4a7b-85d0-5eb0c777f114 8283b058-d6c7-4250-b9b5-bf996e71f287 g.chr6:31599148C>T ENST00000376033.2 + 16 2932 c.2698C>T c.(2698-2700)Cga>Tga p.R900* PRRC2A_ENST00000376007.4_Nonsense_Mutation_p.R900* NM_004638.3 NP_004629.3 P48634 PRC2A_HUMAN proline-rich coiled-coil 2A 900 4 X 57 AA type A repeats. cytoplasm|nucleus protein binding breast(6)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|lung(19)|ovary(3)|pancreas(2)|prostate(4)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 70 AGAAGCAGGCCGAAAGCCTGC 0.667000 5 23 0 0 1 0 0 COL4A5 1287 broad.mit.edu 37 X 107938635 107938635 + Missense_Mutation SNP T T C TCGA-E1-A7Z6-01A-11D-A34J-08 TCGA-E1-A7Z6-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97b400be-5f0e-4a7b-85d0-5eb0c777f114 8283b058-d6c7-4250-b9b5-bf996e71f287 g.chrX:107938635T>C ENST00000328300.6 + 52 5204 c.4960T>C c.(4960-4962)Tgg>Cgg p.W1654R COL4A5_ENST00000361603.2_Missense_Mutation_p.W1648R NM_033380.2 NP_203699.1 P29400 CO4A5_HUMAN collagen, type IV, alpha 5 1648 Collagen IV NC1. Missing (in APSX). axon guidance collagen type IV extracellular matrix structural constituent|protein binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 99 CTACAGCTTTTGGCTGGCAAC 0.473000 Alport syndrome with Diffuse Leiomyomatosis 7 115 0 0 1 0 0 DSG2 1829 broad.mit.edu 37 18 29102206 29102206 + Missense_Mutation SNP C C A TCGA-E1-A7Z6-01A-11D-A34J-08 TCGA-E1-A7Z6-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97b400be-5f0e-4a7b-85d0-5eb0c777f114 8283b058-d6c7-4250-b9b5-bf996e71f287 g.chr18:29102206C>A ENST00000261590.8 + 6 893 c.684C>A c.(682-684)gaC>gaA p.D228E DSG2_ENST00000585206.1_Missense_Mutation_p.D228E NM_001943.3 NP_001934.2 Q14126 DSG2_HUMAN desmoglein 2 228 Cadherin 2. cellular component disassembly involved in apoptosis|homophilic cell adhesion desmosome|integral to membrane calcium ion binding breast(2)|central_nervous_system(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(17)|ovary(2)|prostate(4)|skin(2)|urinary_tract(1) 49 OV - Ovarian serous cystadenocarcinoma(10;0.0068) TTACCTTGGACAGAGAGGTAA 0.348000 20 41 2.37509e-13 2.50704e-13 1 1 0 SCAF11 9169 broad.mit.edu 37 12 46320027 46320027 + Missense_Mutation SNP T T C TCGA-E1-A7Z6-01A-11D-A34J-08 TCGA-E1-A7Z6-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97b400be-5f0e-4a7b-85d0-5eb0c777f114 8283b058-d6c7-4250-b9b5-bf996e71f287 g.chr12:46320027T>C ENST00000465950.1 - 1 3721 c.2512A>G c.(2512-2514)Act>Gct p.T838A SCAF11_ENST00000419565.2_Missense_Mutation_p.T1153A|SCAF11_ENST00000549162.1_Missense_Mutation_p.T961A|SCAF11_ENST00000369367.3_Missense_Mutation_p.T1153A Q99590 SCAFB_HUMAN SR-related CTD-associated factor 11 1153 spliceosome assembly nucleus protein binding|zinc ion binding breast(2)|central_nervous_system(1)|endometrium(2)|kidney(8)|large_intestine(17)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 69 GCTGGCAAAGTCTTTCTCACG 0.458000 4 119 0 0 1 0 0 FAM181B 220382 broad.mit.edu 37 11 82444517 82444517 + Silent SNP G G C TCGA-E1-A7Z6-01A-11D-A34J-08 TCGA-E1-A7Z6-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97b400be-5f0e-4a7b-85d0-5eb0c777f114 8283b058-d6c7-4250-b9b5-bf996e71f287 g.chr11:82444517G>C ENST00000329203.3 - 1 389 c.255C>G c.(253-255)ggC>ggG p.G85G NM_175885.3 NP_787081.2 A6NEQ2 F181B_HUMAN family with sequence similarity 181, member B 85 large_intestine(1)|lung(2)|prostate(1) 4 GCTTCGACTTGCCCGGCTTGT 0.677000 3 7 0 0 1 0 0 PADI6 353238 broad.mit.edu 37 1 17721722 17721723 + RNA DEL GA GA - rs58784721 TCGA-E1-A7Z6-01A-11D-A34J-08 TCGA-E1-A7Z6-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97b400be-5f0e-4a7b-85d0-5eb0c777f114 8283b058-d6c7-4250-b9b5-bf996e71f287 g.chr1:17721722_17721723delGA ENST00000434762.2 + 0 1545 Q6TGC4 PADI6_HUMAN peptidyl arginine deiminase, type VI peptidyl-citrulline biosynthetic process from peptidyl-arginine cytoplasm|nucleus calcium ion binding|protein-arginine deiminase activity breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(2) 29 Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;7.59e-06)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.0134)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189) L-Citrulline(DB00155) tttgttttttgagagtcttgct 0.485 6 10 --- --- --- --- ANKRD36 375248 broad.mit.edu 37 2 97877449 97877449 + Frame_Shift_Del DEL A A - TCGA-E1-A7Z6-01A-11D-A34J-08 TCGA-E1-A7Z6-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97b400be-5f0e-4a7b-85d0-5eb0c777f114 8283b058-d6c7-4250-b9b5-bf996e71f287 g.chr2:97877449delA ENST00000420699.2 + 58 3684 c.3440delA c.(3439-3441)gafs p.E1147fs ANKRD36_ENST00000461153.2_Frame_Shift_Del_p.E1147fs NM_001164315.1 NP_001157787.1 A6QL64 AN36A_HUMAN ankyrin repeat domain 36 1147 endometrium(9)|kidney(5)|liver(1)|lung(3)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1) 23 ATGGCCACGGAAAAAAAGGAT 0.333 2 4 --- --- --- --- RP11-19N8.4 0 broad.mit.edu 37 16 33070154 33070154 + RNA DEL C C - TCGA-E1-A7Z6-01A-11D-A34J-08 TCGA-E1-A7Z6-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97b400be-5f0e-4a7b-85d0-5eb0c777f114 8283b058-d6c7-4250-b9b5-bf996e71f287 g.chr16:33070154delC ENST00000561541.1 - 0 291 CCTATCACATCCCATTCCAGC 0.488 6 4 --- --- --- --- ATRX 546 broad.mit.edu 37 X 76939469 76939470 + Frame_Shift_Del DEL TC TC - TCGA-E1-A7Z6-01A-11D-A34J-08 TCGA-E1-A7Z6-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97b400be-5f0e-4a7b-85d0-5eb0c777f114 8283b058-d6c7-4250-b9b5-bf996e71f287 g.chrX:76939469_76939470delTC ENST00000373344.5 - 9 1492_1493 c.1278_1279delGA c.(1276-1281)gaaafs p.EK426fs ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Frame_Shift_Del_p.EK388fs NM_000489.3 NP_000480.2 P46100 ATRX_HUMAN alpha thalassemia/mental retardation syndrome X-linked 426 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) TTGGTATTTTTCTCTTTGTTTA 0.366 """Mis, F, N""" """Pancreatic neuroendocrine tumors, paediatric GBM""" ATR-X (alpha thalassemia/mental retardation) syndrome 127 240 --- --- --- ---