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 TMEM161B 153396 broad.mit.edu 37 5 87502987 87502987 + Missense_Mutation SNP A A G TCGA-DB-A4XC-01A-11D-A26M-08 TCGA-DB-A4XC-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx b377c971-575a-49c8-896e-77eaf183423d 338ea083-8e51-4a68-b230-99b8c8356483 g.chr5:87502987A>G ENST00000296595.6 - 6 581 c.457T>C c.(457-459)Ttt>Ctt p.F153L TMEM161B_ENST00000509387.1_Missense_Mutation_p.F26L|TMEM161B_ENST00000512429.1_Missense_Mutation_p.F142L|TMEM161B_ENST00000514135.1_Missense_Mutation_p.F153L|TMEM161B_ENST00000511218.1_Intron|TMEM161B_ENST00000506536.1_Intron NM_153354.3 NP_699185.1 Q8NDZ6 T161B_HUMAN transmembrane protein 161B 153 integral to membrane endometrium(4)|large_intestine(3)|lung(9)|skin(3)|upper_aerodigestive_tract(1) 20 all_cancers(142;0.000275)|Lung NSC(167;0.00901)|all_lung(232;0.0111)|Colorectal(57;0.0959)|Ovarian(174;0.1) OV - Ovarian serous cystadenocarcinoma(54;6.24e-36)|Epithelial(54;6.8e-31)|all cancers(79;1.07e-26) GTTAATGAAAATAGAACTTTG 0.318000 6 13 0 0 1 0 0 ZNRD1-AS1 0 broad.mit.edu 37 6 29976024 29976024 + RNA SNP C C G rs3765604 byFrequency TCGA-DB-A4XC-01A-11D-A26M-08 TCGA-DB-A4XC-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx b377c971-575a-49c8-896e-77eaf183423d 338ea083-8e51-4a68-b230-99b8c8356483 g.chr6:29976024C>G ENST00000376797.3 - 0 1053 ZNRD1-AS1_ENST00000448093.1_RNA|HLA-J_ENST00000462773.1_RNA|ZNRD1-AS1_ENST00000425604.1_RNA|ZNRD1-AS1_ENST00000420251.1_RNA ATAACGAGGTCCTGGGTTCTG 0.592000 3 23 0 0 1 0 0 DTX1 1840 broad.mit.edu 37 12 113515358 113515358 + Missense_Mutation SNP A A G TCGA-DB-A4XC-01A-11D-A26M-08 TCGA-DB-A4XC-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx b377c971-575a-49c8-896e-77eaf183423d 338ea083-8e51-4a68-b230-99b8c8356483 g.chr12:113515358A>G ENST00000257600.3 + 2 892 c.389A>G c.(388-390)cAg>cGg p.Q130R NM_004416.2 NP_004407.2 Q86Y01 DTX1_HUMAN deltex homolog 1 (Drosophila) 130 WWE 2. negative regulation of neuron differentiation|Notch signaling pathway|regulation of Notch signaling pathway|transcription from RNA polymerase II promoter cytoplasm|nucleus Notch binding|SH3 domain binding|transcription coactivator activity|ubiquitin protein ligase binding|zinc ion binding central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 32 ATCACCATCCAGAACGCCTAC 0.607000 10 52 0 0 1 0 0 TFAP2B 7021 broad.mit.edu 37 6 50811003 50811003 + Silent SNP C C G TCGA-DB-A4XC-01A-11D-A26M-08 TCGA-DB-A4XC-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx b377c971-575a-49c8-896e-77eaf183423d 338ea083-8e51-4a68-b230-99b8c8356483 g.chr6:50811003C>G ENST00000263046.4 + 8 1474 c.1308C>G c.(1306-1308)ggC>ggG p.G436G TFAP2B_ENST00000393655.3_Silent_p.G427G Q92481 AP2B_HUMAN transcription factor AP-2 beta (activating enhancer binding protein 2 beta) 427 QLCKEFTDLLAQDRTPIGNSRPSPILEPGIQSCLTHFSLIT HGFGAPAICAALTALQNYLTEALKGMDKMFLNNTTTNRHTS GEGPGSKTGDKEEKHRK -> GNFVKNLRIYWRRTGHR (in Ref. 1; CAA71047). nervous system development|positive regulation of transcription from RNA polymerase II promoter protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(11)|lung(16)|prostate(2)|upper_aerodigestive_tract(1) 40 Lung NSC(77;0.156) CGCTCAAAGGCATGGACAAGA 0.582000 12 27 0 0 1 0 0 MAP3K4 4216 broad.mit.edu 37 6 161512543 161512543 + Missense_Mutation SNP A A G TCGA-DB-A4XC-01A-11D-A26M-08 TCGA-DB-A4XC-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx b377c971-575a-49c8-896e-77eaf183423d 338ea083-8e51-4a68-b230-99b8c8356483 g.chr6:161512543A>G ENST00000392142.4 + 12 3254 c.3106A>G c.(3106-3108)Atg>Gtg p.M1036V MAP3K4_ENST00000366920.2_Missense_Mutation_p.M1036V|MAP3K4_ENST00000348824.7_Missense_Mutation_p.M1036V|MAP3K4_ENST00000366919.2_Missense_Mutation_p.M1036V NM_005922.2 NP_005913.2 Q9Y6R4 M3K4_HUMAN mitogen-activated protein kinase kinase kinase 4 1036 activation of MAPKK activity|JNK cascade|positive regulation of JUN kinase activity perinuclear region of cytoplasm ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein binding breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|lung(28)|ovary(3)|skin(2)|stomach(1) 77 Breast(66;0.000776)|Ovarian(120;0.0367)|Prostate(117;0.0771) OV - Ovarian serous cystadenocarcinoma(65;1.85e-18)|BRCA - Breast invasive adenocarcinoma(81;3.04e-05) CCGAGAAGCAATGATTCAGGG 0.393000 4 49 0 0 1 0 0 C11orf30 56946 broad.mit.edu 37 11 76174901 76174901 + Missense_Mutation SNP A A G TCGA-DB-A4XC-01A-11D-A26M-08 TCGA-DB-A4XC-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx b377c971-575a-49c8-896e-77eaf183423d 338ea083-8e51-4a68-b230-99b8c8356483 g.chr11:76174901A>G ENST00000529032.1 + 6 608 c.608A>G c.(607-609)aAa>aGa p.K203R C11orf30_ENST00000343878.3_Missense_Mutation_p.K203R|C11orf30_ENST00000524767.1_Missense_Mutation_p.K218R|C11orf30_ENST00000533248.1_Missense_Mutation_p.K217R|C11orf30_ENST00000524490.1_Missense_Mutation_p.K204R|C11orf30_ENST00000525919.1_Missense_Mutation_p.K204R|C11orf30_ENST00000525038.1_Missense_Mutation_p.K218R|C11orf30_ENST00000334736.3_Missense_Mutation_p.K203R Q7Z589 EMSY_HUMAN chromosome 11 open reading frame 30 203 Interaction with BRCA2. chromatin modification|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(10)|liver(1)|lung(23)|ovary(5)|prostate(2)|skin(4)|stomach(1)|urinary_tract(2) 60 AAACCCAGAAAACGAAGGCGA 0.413000 25 71 0 0 1 0 0 RUNX2 860 broad.mit.edu 37 6 45390466 45390466 + Silent SNP A A G TCGA-DB-A4XC-01A-11D-A26M-08 TCGA-DB-A4XC-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx b377c971-575a-49c8-896e-77eaf183423d 338ea083-8e51-4a68-b230-99b8c8356483 g.chr6:45390466A>G ENST00000371438.1 + 2 553 c.195A>G c.(193-195)caA>caG p.Q65Q RUNX2_ENST00000359524.5_Silent_p.Q51Q|RUNX2_ENST00000352853.5_Silent_p.Q133Q|RUNX2_ENST00000541979.1_Silent_p.Q133Q|RUNX2_ENST00000465038.2_Silent_p.Q65Q|RUNX2_ENST00000576263.1_Silent_p.Q65Q|RUNX2_ENST00000371432.3_Silent_p.Q51Q|RUNX2_ENST00000371436.6_Silent_p.Q65Q NM_001024630.3 NP_001019801.3 Q13950 RUNX2_HUMAN runt-related transcription factor 2 65 Poly-Gln. negative regulation of transcription, DNA-dependent|osteoblast differentiation|positive regulation of transcription, DNA-dependent nucleus ATP binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(18)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 34 agcagcagcaacagcagcagc 0.731000 3 23 0 0 1 0 0 TP53 7157 broad.mit.edu 37 17 7579406 7579406 + Nonsense_Mutation SNP G G C TCGA-DB-A4XC-01A-11D-A26M-08 TCGA-DB-A4XC-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx b377c971-575a-49c8-896e-77eaf183423d 338ea083-8e51-4a68-b230-99b8c8356483 g.chr17:7579406G>C ENST00000420246.2 - 4 413 c.281C>G c.(280-282)tCa>tGa p.S94* TP53_ENST00000455263.2_Nonsense_Mutation_p.S94*|TP53_ENST00000413465.2_Nonsense_Mutation_p.S94*|TP53_ENST00000359597.4_Nonsense_Mutation_p.S94*|TP53_ENST00000269305.4_Nonsense_Mutation_p.S94*|TP53_ENST00000445888.2_Nonsense_Mutation_p.S94* NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 94 Interaction with WWOX. S -> L (in sporadic cancers; somatic mutation).|S -> 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.0?(8)|p.S94*(3)|p.G59fs*23(3)|p.V73fs*9(1)|p.A88fs*52(1)|p.W91fs*13(1)|p.P13fs*18(1)|p.S33fs*23(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) GACAGAAGATGACAGGGGCCA 0.627000 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) 51 26 0 0 1 0 0 AJ271736.10 0 broad.mit.edu 37 X 155255062 155255062 + RNA SNP C C G TCGA-DB-A4XC-01A-11D-A26M-08 TCGA-DB-A4XC-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx b377c971-575a-49c8-896e-77eaf183423d 338ea083-8e51-4a68-b230-99b8c8356483 g.chrX:155255062C>G ENST00000285718.7 + 0 1367 WASH6P_ENST00000461007.1_RNA CACCTTCCCCCCCAGACCCAG 0.627000 3 26 0 0 1 0 0 PCDHGA1 0 broad.mit.edu 37 5 140710809 140710809 + Silent SNP C C T TCGA-DB-A4XC-01A-11D-A26M-08 TCGA-DB-A4XC-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx b377c971-575a-49c8-896e-77eaf183423d 338ea083-8e51-4a68-b230-99b8c8356483 g.chr5:140710809C>T ENST00000517417.1 + 1 558 c.558C>T c.(556-558)gcC>gcT p.A186A PCDHGA1_ENST00000378105.3_Silent_p.A186A NM_018912.2 NP_061735.1 breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|lung(32)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 78 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) AACAGGGAGCCGATGGGCCTC 0.527000 10 43 0 0 1 0 0 IL17F 112744 broad.mit.edu 37 6 52109195 52109195 + Splice_Site SNP C C A TCGA-DB-A4XC-01A-11D-A26M-08 TCGA-DB-A4XC-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx b377c971-575a-49c8-896e-77eaf183423d 338ea083-8e51-4a68-b230-99b8c8356483 g.chr6:52109195C>A ENST00000336123.4 - 1 140 c.33_splice c.e1+1 p.M11_splice NM_052872.3 NP_443104.1 Q96PD4 IL17F_HUMAN interleukin 17F 11 cartilage development|inflammatory response|lymphotoxin A biosynthetic process|negative regulation of angiogenesis|proteoglycan metabolic process|regulation of granulocyte macrophage colony-stimulating factor biosynthetic process|regulation of interleukin-2 biosynthetic process|regulation of interleukin-6 biosynthetic process|regulation of interleukin-8 biosynthetic process|regulation of transforming growth factor beta receptor signaling pathway extracellular space cytokine activity|cytokine binding|protein homodimerization activity NS(1)|endometrium(3)|large_intestine(2)|lung(7)|ovary(1) 14 Lung NSC(77;0.116) TGCTACTCACCATGGCTGGGC 0.453000 8 41 0.0692343 0.0715421 1 1 0 PCYOX1L 78991 broad.mit.edu 37 5 148748023 148748023 + Missense_Mutation SNP C C A rs142120062 byFrequency TCGA-DB-A4XC-01A-11D-A26M-08 TCGA-DB-A4XC-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx b377c971-575a-49c8-896e-77eaf183423d 338ea083-8e51-4a68-b230-99b8c8356483 g.chr5:148748023C>A ENST00000514349.1 + 5 1600 c.1021C>A c.(1021-1023)Cgc>Agc p.R341S PCYOX1L_ENST00000274569.4_Missense_Mutation_p.R431S Q8NBM8 PCYXL_HUMAN prenylcysteine oxidase 1 like 431 prenylcysteine catabolic process extracellular region oxidoreductase activity, acting on a sulfur group of donors, oxygen as acceptor breast(2)|kidney(1)|large_intestine(2)|lung(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 11 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CTATGGCTCCCGCCCCACGCT 0.622000 5 72 0.000602214 0.000643746 1 1 0 ADAMTS7 11173 broad.mit.edu 37 15 79059040 79059040 + Silent SNP A A G rs144043775 by1000genomes TCGA-DB-A4XC-01A-11D-A26M-08 TCGA-DB-A4XC-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx b377c971-575a-49c8-896e-77eaf183423d 338ea083-8e51-4a68-b230-99b8c8356483 g.chr15:79059040A>G ENST00000388820.4 - 19 3423 c.3213T>C c.(3211-3213)aaT>aaC p.N1071N NM_014272.3 NP_055087.2 Q9UKP4 ATS7_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 7 1071 proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding p.N1071N(2)|p.N1071S(2) NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9) 54 CCTCGTGGAAATTGATGAAAT 0.617000 4 36 0 0 1 0 0 SLC25A10 1468 broad.mit.edu 37 17 79674051 79674051 + Missense_Mutation SNP A A G TCGA-DB-A4XC-01A-11D-A26M-08 TCGA-DB-A4XC-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx b377c971-575a-49c8-896e-77eaf183423d 338ea083-8e51-4a68-b230-99b8c8356483 g.chr17:79674051A>G ENST00000571730.1 + 4 592 c.461A>G c.(460-462)cAa>cGa p.Q154R SLC25A10_ENST00000541223.1_Missense_Mutation_p.Q154R|MRPL12_ENST00000333676.3_Missense_Mutation_p.Q154R Q9UBX3 DIC_HUMAN solute carrier family 25 (mitochondrial carrier; dicarboxylate transporter), member 10 0 gluconeogenesis|mitochondrial transport integral to membrane|mitochondrial inner membrane|nucleus protein binding endometrium(1)|lung(9)|ovary(1)|prostate(1)|skin(2) 14 all_neural(118;0.0878)|Ovarian(332;0.12)|all_lung(278;0.23) BRCA - Breast invasive adenocarcinoma(99;0.0117)|OV - Ovarian serous cystadenocarcinoma(97;0.0955) Succinic acid(DB00139) AACTACATCCAAGGCATCAAC 0.587000 8 46 0 0 1 0 0 TIE1 7075 broad.mit.edu 37 1 43784936 43784936 + Missense_Mutation SNP G G A rs45475401 byFrequency TCGA-DB-A4XC-01A-11D-A26M-08 TCGA-DB-A4XC-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx b377c971-575a-49c8-896e-77eaf183423d 338ea083-8e51-4a68-b230-99b8c8356483 g.chr1:43784936G>A ENST00000372476.3 + 18 3032 c.2953G>A c.(2953-2955)Gtg>Atg p.V985M TIE1_ENST00000433781.2_Missense_Mutation_p.V630M|TIE1_ENST00000473014.1_3'UTR NM_001253357.1|NM_005424.4 NP_001240286.1|NP_005415.1 P35590 TIE1_HUMAN tyrosine kinase with immunoglobulin-like and EGF-like domains 1 985 Protein kinase. mesoderm development integral to plasma membrane ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(8)|lung(28)|ovary(3)|prostate(2)|salivary_gland(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4) 70 Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0505) TGCCCGGAATGTGCTGGTCGG 0.562000 7 44 0 0 1 0 0 IDH1 3417 broad.mit.edu 37 2 209113112 209113112 + Missense_Mutation SNP C C T rs121913500 TCGA-DB-A4XC-01A-11D-A26M-08 TCGA-DB-A4XC-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx b377c971-575a-49c8-896e-77eaf183423d 338ea083-8e51-4a68-b230-99b8c8356483 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 5 19 0 0 1 0 0 MYH13 8735 broad.mit.edu 37 17 10210260 10210260 + Missense_Mutation SNP G G A TCGA-DB-A4XC-01A-11D-A26M-08 TCGA-DB-A4XC-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx b377c971-575a-49c8-896e-77eaf183423d 338ea083-8e51-4a68-b230-99b8c8356483 g.chr17:10210260G>A ENST00000418404.3 - 35 5454 c.5291C>T c.(5290-5292)aCg>aTg p.T1764M MYH13_ENST00000570743.1_Missense_Mutation_p.T1764M|MYH13_ENST00000252172.4_Missense_Mutation_p.T1764M Q9UKX3 MYH13_HUMAN myosin, heavy chain 13, skeletal muscle 1764 muscle contraction muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|microfilament motor activity breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2) 108 GCTCACATCCGTGATGGCCTT 0.517000 10 55 0 0 1 0 0 ADAMTS7 11173 broad.mit.edu 37 15 79059041 79059041 + Missense_Mutation SNP T T C TCGA-DB-A4XC-01A-11D-A26M-08 TCGA-DB-A4XC-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx b377c971-575a-49c8-896e-77eaf183423d 338ea083-8e51-4a68-b230-99b8c8356483 g.chr15:79059041T>C ENST00000388820.4 - 19 3422 c.3212A>G c.(3211-3213)aAt>aGt p.N1071S NM_014272.3 NP_055087.2 Q9UKP4 ATS7_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 7 1071 proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding p.N1071S(4) NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9) 54 CTCGTGGAAATTGATGAAATT 0.617000 4 36 0 0 1 0 0 RPS6KL1 83694 broad.mit.edu 37 14 75386664 75386664 + Missense_Mutation SNP T T G TCGA-DB-A4XC-01A-11D-A26M-08 TCGA-DB-A4XC-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx b377c971-575a-49c8-896e-77eaf183423d 338ea083-8e51-4a68-b230-99b8c8356483 g.chr14:75386664T>G ENST00000555647.1 - 4 561 c.274A>C c.(274-276)Aac>Cac p.N92H RPS6KL1_ENST00000358328.4_Missense_Mutation_p.N92H|RPS6KL1_ENST00000554900.1_5'UTR|RPS6KL1_ENST00000557413.1_Missense_Mutation_p.N92H|RPS6KL1_ENST00000354625.2_Missense_Mutation_p.N92H Q9Y6S9 RPKL1_HUMAN ribosomal protein S6 kinase-like 1 92 MIT. ribosome ATP binding|protein serine/threonine kinase activity central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 17 BRCA - Breast invasive adenocarcinoma(234;0.00658) CGCTCCTTGTTGGGGTCAACT 0.607000 9 24 0 0 1 0 0 RASGRP4 115727 broad.mit.edu 37 19 38909083 38909083 + Missense_Mutation SNP G G A TCGA-DB-A4XC-01A-11D-A26M-08 TCGA-DB-A4XC-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx b377c971-575a-49c8-896e-77eaf183423d 338ea083-8e51-4a68-b230-99b8c8356483 g.chr19:38909083G>A ENST00000454404.2 - 7 896 c.683C>T c.(682-684)cCc>cTc p.P228L RASGRP4_ENST00000586305.1_Missense_Mutation_p.P248L|RASGRP4_ENST00000433821.2_Missense_Mutation_p.P262L|RASGRP4_ENST00000426920.2_Intron|RASGRP4_ENST00000587738.1_Missense_Mutation_p.P262L|RASGRP4_ENST00000587753.1_Missense_Mutation_p.P262L|RASGRP4_ENST00000293062.9_Intron NM_001146205.1|NM_170604.2 NP_001139677.1|NP_733749.1 Q8TDF6 GRP4_HUMAN RAS guanyl releasing protein 4 262 Ras-GEF. activation of phospholipase C activity|cell growth|cell proliferation|myeloid cell differentiation|positive regulation of Ras protein signal transduction|regulation of G-protein coupled receptor protein signaling pathway|response to extracellular stimulus|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine kinase signaling pathway cytoplasm|membrane fraction|plasma membrane|soluble fraction diacylglycerol binding|GTP-dependent protein binding|metal ion binding|Ras guanyl-nucleotide exchange factor activity cervix(1)|kidney(1)|large_intestine(4)|lung(12)|pancreas(1)|prostate(3)|skin(1) 23 all_cancers(60;4.21e-06) Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272) TAGGGGCCCGGGACGGCTCAG 0.662000 3 12 0 0 1 0 0 SSTR4 6754 broad.mit.edu 37 20 23016513 23016513 + Missense_Mutation SNP C C G TCGA-DB-A4XC-01A-11D-A26M-08 TCGA-DB-A4XC-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx b377c971-575a-49c8-896e-77eaf183423d 338ea083-8e51-4a68-b230-99b8c8356483 g.chr20:23016513C>G ENST00000255008.3 + 1 457 c.393C>G c.(391-393)ttC>ttG p.F131L RP4-753D10.3_ENST00000440921.1_RNA NM_001052.2 NP_001043.2 P31391 SSR4_HUMAN somatostatin receptor 4 131 G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cell proliferation integral to plasma membrane somatostatin receptor activity breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|upper_aerodigestive_tract(1) 32 Colorectal(13;0.0518)|Lung NSC(19;0.0542)|all_lung(19;0.118) TCAACATGTTCACCAGCGTCT 0.711000 34 60 0 0 1 0 0 TADA2A 6871 broad.mit.edu 37 17 35783699 35783699 + Missense_Mutation SNP T T C TCGA-DB-A4XC-01A-11D-A26M-08 TCGA-DB-A4XC-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx b377c971-575a-49c8-896e-77eaf183423d 338ea083-8e51-4a68-b230-99b8c8356483 g.chr17:35783699T>C ENST00000394395.2 + 3 289 c.116T>C c.(115-117)tTt>tCt p.F39S TADA2A_ENST00000225396.6_Missense_Mutation_p.F39S|TADA2A_ENST00000586023.1_Missense_Mutation_p.F39S|TADA2A_ENST00000417170.1_Missense_Mutation_p.F39S NM_001166105.1 NP_001159577.1 O75478 TAD2A_HUMAN transcriptional adaptor 2A 39 Cys-rich. histone H3 acetylation|transcription from RNA polymerase II promoter chromosome|PCAF complex DNA binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity|zinc ion binding breast(4)|cervix(1)|endometrium(1)|kidney(2)|lung(3)|prostate(1)|skin(1) 13 CCACCTCCTTTTTTCCTCTGC 0.443000 9 53 0 0 1 0 0 MAGEB16 139604 broad.mit.edu 37 X 35820265 35820265 + Silent SNP C C T rs5928990 by1000genomes TCGA-DB-A4XC-01A-11D-A26M-08 TCGA-DB-A4XC-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx b377c971-575a-49c8-896e-77eaf183423d 338ea083-8e51-4a68-b230-99b8c8356483 g.chrX:35820265C>T ENST00000399992.1 + 3 147 c.48C>T c.(46-48)tgC>tgT p.C16C MAGEB16_ENST00000399989.1_5'UTR|MAGEB16_ENST00000399988.1_5'UTR|MAGEB16_ENST00000399985.1_5'UTR|MAGEB16_ENST00000399987.1_5'UTR A2A368 MAGBG_HUMAN melanoma antigen family B, 16 0 breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(16)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 31 TTCTTCATTGCCTGCCCTCCT 0.522000 3 15 0 0 1 0 0 S100A9 6280 broad.mit.edu 37 1 153333307 153333307 + Frame_Shift_Del DEL C C - TCGA-DB-A4XC-01A-11D-A26M-08 TCGA-DB-A4XC-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx b377c971-575a-49c8-896e-77eaf183423d 338ea083-8e51-4a68-b230-99b8c8356483 g.chr1:153333307delC ENST00000368738.3 + 3 381 c.338delC c.(337-339)acfs p.T113fs NM_002965.3 NP_002956.1 P06702 S10A9_HUMAN S100 calcium binding protein A9 113 cell-cell signaling cytoplasm|cytoskeleton|nucleus|plasma membrane calcium ion binding|protein binding|signal transducer activity breast(1)|endometrium(1)|large_intestine(2) 4 all_lung(78;2.81e-33)|Lung NSC(65;9.54e-32)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.171) GGGGAGGGCACCCCCTAAGAC 0.652 2 4 --- --- --- --- MAGI1 9223 broad.mit.edu 37 3 65372850 65372851 + Frame_Shift_Del DEL TC TC - TCGA-DB-A4XC-01A-11D-A26M-08 TCGA-DB-A4XC-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx b377c971-575a-49c8-896e-77eaf183423d 338ea083-8e51-4a68-b230-99b8c8356483 g.chr3:65372850_65372851delTC ENST00000330909.8 - 15 2466_2467 c.2467_2468delGA c.(2467-2469)afs p.E823fs MAGI1_ENST00000497477.2_Intron|MAGI1_ENST00000402939.2_Intron|MAGI1_ENST00000483466.1_Frame_Shift_Del_p.E823fs NM_015520.1 NP_056335.1 Q96QZ7 MAGI1_HUMAN membrane associated guanylate kinase, WW and PDZ domain containing 1 823 PDZ 4. cell adhesion|cell surface receptor linked signaling pathway|protein complex assembly tight junction ATP binding|protein C-terminus binding breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|liver(1)|lung(21)|pancreas(1)|skin(5) 51 Lung NSC(201;0.0016) BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133) GGAATTGATTTCTCTCTCTCTC 0.401 8 32 --- --- --- --- ERAP1 51752 broad.mit.edu 37 5 96116772 96116775 + Frame_Shift_Del DEL GTTT GTTT - TCGA-DB-A4XC-01A-11D-A26M-08 TCGA-DB-A4XC-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx b377c971-575a-49c8-896e-77eaf183423d 338ea083-8e51-4a68-b230-99b8c8356483 g.chr5:96116772_96116775delGTTT ENST00000296754.3 - 17 2832_2835 c.2575_2578delAAAC c.(2575-2580)ttfs p.KL859fs ERAP1_ENST00000443439.2_Frame_Shift_Del_p.KL859fs NM_016442.3 NP_057526.3 Q9NZ08 ERAP1_HUMAN endoplasmic reticulum aminopeptidase 1 859 angiogenesis|antigen processing and presentation of endogenous peptide antigen via MHC class I|fat cell differentiation|membrane protein ectodomain proteolysis|regulation of blood pressure|regulation of innate immune response|response to bacterium cytosol|endoplasmic reticulum lumen|endoplasmic reticulum membrane|extracellular region|integral to membrane aminopeptidase activity|interleukin-1, Type II receptor binding|interleukin-6 receptor binding|metalloexopeptidase activity|zinc ion binding endometrium(7)|large_intestine(5)|lung(3)|ovary(1)|pancreas(1)|stomach(2) 19 all_cancers(142;1.75e-06)|all_epithelial(76;3.08e-09)|all_lung(232;0.000435)|Lung NSC(167;0.000601)|Ovarian(225;0.024)|Colorectal(57;0.0432)|Breast(839;0.244) all cancers(79;7.26e-15)|COAD - Colon adenocarcinoma(37;0.071) TTTTGTACAAGTTTGTTCCAGTTT 0.387 10 22 --- --- --- --- TNRC18 84629 broad.mit.edu 37 7 5352461 5352461 + Frame_Shift_Del DEL G G - TCGA-DB-A4XC-01A-11D-A26M-08 TCGA-DB-A4XC-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx b377c971-575a-49c8-896e-77eaf183423d 338ea083-8e51-4a68-b230-99b8c8356483 g.chr7:5352461delG ENST00000399537.4 - 27 8409 c.8061delC c.(8059-8061)ccfs p.P2687fs TNRC18_ENST00000430969.1_Frame_Shift_Del_p.P2687fs O15417 TNC18_HUMAN trinucleotide repeat containing 18 2687 DNA binding central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8) 11 Ovarian(82;0.142) UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15) CCGTGGGGGCGGGGGCTGCCT 0.687 2 4 --- --- --- --- FAM166B 730112 broad.mit.edu 37 9 35563239 35563241 + In_Frame_Del DEL AGG AGG - TCGA-DB-A4XC-01A-11D-A26M-08 TCGA-DB-A4XC-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx b377c971-575a-49c8-896e-77eaf183423d 338ea083-8e51-4a68-b230-99b8c8356483 g.chr9:35563239_35563241delAGG ENST00000399742.2 - 2 278_280 c.208_210delCCT c.(208-210)del p.P70del FAM166B_ENST00000492890.1_5'UTR NM_001099951.2|NM_001164310.1 NP_001093421.1|NP_001157782.1 A8MTA8 F166B_HUMAN family with sequence similarity 166, member B 70 kidney(3)|large_intestine(1)|lung(4)|ovary(1) 9 TGGGAACCTCAGGAGATCTTGGA 0.601 17 139 --- --- --- --- KIAA0586 9786 broad.mit.edu 37 14 58899174 58899177 + Splice_Site DEL AAGT AAGT - TCGA-DB-A4XC-01A-11D-A26M-08 TCGA-DB-A4XC-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx b377c971-575a-49c8-896e-77eaf183423d 338ea083-8e51-4a68-b230-99b8c8356483 g.chr14:58899174_58899177delAAGT ENST00000423743.3 + 4 412_413 c.155_splice c.e4+1 p.52_splice KIAA0586_ENST00000354386.6_Splice_Site_p.149_splice|KIAA0586_ENST00000261244.5_Splice_Site_p.137_splice|KIAA0586_ENST00000556134.1_Splice_Site_p.122_splice NM_001244191.1|NM_001244192.1 NP_001231120.1|NP_001231121.1 E9PGW8 E9PGW8_HUMAN KIAA0586 136 endometrium(4)|kidney(6)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 TTTAAAGCAAAAGTAAGTTTCATT 0.279 4 5 --- --- --- --- MMP25 64386 broad.mit.edu 37 16 3108981 3108981 + Frame_Shift_Del DEL C C - TCGA-DB-A4XC-01A-11D-A26M-08 TCGA-DB-A4XC-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx b377c971-575a-49c8-896e-77eaf183423d 338ea083-8e51-4a68-b230-99b8c8356483 g.chr16:3108981delC ENST00000336577.4 + 10 1808 c.1571delC c.(1570-1572)acfs p.T524fs RP11-473M20.7_ENST00000572574.1_RNA|RP11-473M20.7_ENST00000576250.1_RNA|RP11-473M20.7_ENST00000572222.1_RNA|RP11-473M20.7_ENST00000572427.1_RNA NM_022468.4 NP_071913.1 Q9NPA2 MMP25_HUMAN matrix metallopeptidase 25 524 inflammatory response|proteolysis anchored to membrane|cell surface|plasma membrane|proteinaceous extracellular matrix calcium ion binding|metalloendopeptidase activity|zinc ion binding endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)|skin(1) 14 CCCAAAGCGACCCCCGTGTCC 0.711 2 4 --- --- --- --- CNOT1 23019 broad.mit.edu 37 16 58589320 58589323 + Frame_Shift_Del DEL TCTT TCTT - TCGA-DB-A4XC-01A-11D-A26M-08 TCGA-DB-A4XC-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx b377c971-575a-49c8-896e-77eaf183423d 338ea083-8e51-4a68-b230-99b8c8356483 g.chr16:58589320_58589323delTCTT ENST00000317147.5 - 21 3055_3058 c.2723_2726delAAGA c.(2722-2727)agfs p.KE908fs CNOT1_ENST00000569732.1_5'UTR|CNOT1_ENST00000441024.2_Frame_Shift_Del_p.KE908fs|CNOT1_ENST00000569240.1_Frame_Shift_Del_p.KE903fs NM_001265612.1|NM_016284.4 NP_001252541.1|NP_057368.3 A5YKK6 CNOT1_HUMAN CCR4-NOT transcription complex, subunit 1 908 nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasmic mRNA processing body|cytosol breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2) 87 Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239) TATATGTAACTCTTTATCAGGATA 0.373 15 71 --- --- --- --- GRIN2C 2905 broad.mit.edu 37 17 72843447 72843449 + Splice_Site DEL CTT CTT - TCGA-DB-A4XC-01A-11D-A26M-08 TCGA-DB-A4XC-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx b377c971-575a-49c8-896e-77eaf183423d 338ea083-8e51-4a68-b230-99b8c8356483 g.chr17:72843447_72843449delCTT ENST00000293190.5 - 9 2145_2147 c.2001_splice c.e9+1 p.K667_splice GRIN2C_ENST00000347612.4_Splice_Site_p.K667_splice NM_000835.3 NP_000826.2 Q14957 NMDE3_HUMAN glutamate receptor, ionotropic, N-methyl D-aspartate 2C 667 glutamate signaling pathway cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane extracellular-glutamate-gated ion channel activity|N-methyl-D-aspartate selective glutamate receptor activity NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(15)|ovary(2)|skin(2)|urinary_tract(1) 33 all_lung(278;0.172)|Lung NSC(278;0.207) Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836) GCCCCACAACCTTCTTGTCACTG 0.611 9 66 --- --- --- --- ATRX 546 broad.mit.edu 37 X 76938089 76938092 + Frame_Shift_Del DEL TCTC TCTC - rs141180098 TCGA-DB-A4XC-01A-11D-A26M-08 TCGA-DB-A4XC-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx b377c971-575a-49c8-896e-77eaf183423d 338ea083-8e51-4a68-b230-99b8c8356483 g.chrX:76938089_76938092delTCTC ENST00000373344.5 - 9 2870_2873 c.2656_2659delGAGA c.(2656-2661)ctfs p.ET886fs ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Frame_Shift_Del_p.ET848fs NM_000489.3 NP_000480.2 P46100 ATRX_HUMAN alpha thalassemia/mental retardation syndrome X-linked 886 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.E886fs*18(1)|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) GAAGAGAAAGTCTCTCTCTCTTGT 0.412 """Mis, F, N""" """Pancreatic neuroendocrine tumors, paediatric GBM""" ATR-X (alpha thalassemia/mental retardation) syndrome 46 26 --- --- --- ---