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 RANBP2 5903 broad.mit.edu 37 2 109384409 109384409 + Missense_Mutation SNP T T A TCGA-WY-A85B-01A-11D-A36O-08 TCGA-WY-A85B-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ee529a1-6577-4e99-9b07-8399e6b02b53 38a6ec3f-e917-49b1-8d02-13793403b672 g.chr2:109384409T>A ENST00000283195.6 + 20 7540 c.7414T>A c.(7414-7416)Tta>Ata p.L2472I NM_006267.4 NP_006258.3 P49792 RBP2_HUMAN RAN binding protein 2 2472 carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction cytosol|nuclear pore peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding RANBP2/ALK(34) NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1) 129 TGTAGCTGTATTAGAAGAAAC 0.428000 6 456 0 0 1 0 0 DNM1P47 0 broad.mit.edu 37 15 102296140 102296140 + RNA SNP C C T TCGA-WY-A85B-01A-11D-A36O-08 TCGA-WY-A85B-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ee529a1-6577-4e99-9b07-8399e6b02b53 38a6ec3f-e917-49b1-8d02-13793403b672 g.chr15:102296140C>T ENST00000561463.1 + 0 4186 GTCCAACCTGCACTCGCGTGG 0.602000 4 9 0 0 1 0 0 PPM1F 9647 broad.mit.edu 37 22 22285639 22285639 + Missense_Mutation SNP C C T TCGA-WY-A85B-01A-11D-A36O-08 TCGA-WY-A85B-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ee529a1-6577-4e99-9b07-8399e6b02b53 38a6ec3f-e917-49b1-8d02-13793403b672 g.chr22:22285639C>T ENST00000407142.1 - 4 1328 c.268G>A c.(268-270)Gtg>Atg p.V90M PPM1F_ENST00000397495.4_Missense_Mutation_p.V258M|PPM1F_ENST00000263212.5_Missense_Mutation_p.V258M|PPM1F_ENST00000538191.1_Missense_Mutation_p.V154M P49593 PPM1F_HUMAN protein phosphatase, Mg2+/Mn2+ dependent, 1F 258 apoptosis|protein dephosphorylation protein serine/threonine phosphatase complex metal ion binding|protein serine/threonine phosphatase activity breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(1)|ovary(2)|upper_aerodigestive_tract(1) 12 Colorectal(54;0.105) READ - Rectum adenocarcinoma(21;0.155) AGCGCACACACACCTGTGGTG 0.622000 26 25 0 0 1 0 0 ACVRL1 94 broad.mit.edu 37 12 52312879 52312879 + Missense_Mutation SNP A A G TCGA-WY-A85B-01A-11D-A36O-08 TCGA-WY-A85B-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ee529a1-6577-4e99-9b07-8399e6b02b53 38a6ec3f-e917-49b1-8d02-13793403b672 g.chr12:52312879A>G ENST00000550683.1 + 8 1500 c.1399A>G c.(1399-1401)Aac>Gac p.N467D ACVRL1_ENST00000388922.4_Missense_Mutation_p.N453D|ACVRL1_ENST00000419526.2_Missense_Mutation_p.N279D NM_001077401.1 NP_001070869.1 P37023 ACVL1_HUMAN activin A receptor type II-like 1 453 Protein kinase. blood vessel endothelial cell proliferation involved in sprouting angiogenesis|blood vessel maturation|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of endothelial cell migration|negative regulation of focal adhesion assembly|positive regulation of BMP signaling pathway|positive regulation of transcription, DNA-dependent|regulation of blood pressure|regulation of blood vessel endothelial cell migration|regulation of DNA replication|regulation of endothelial cell proliferation|transforming growth factor beta receptor signaling pathway|wound healing, spreading of epidermal cells cell surface|integral to plasma membrane activin binding|activin receptor activity, type I|ATP binding|metal ion binding|receptor signaling protein serine/threonine kinase activity|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|urinary_tract(1) 20 BRCA - Breast invasive adenocarcinoma(357;0.0991) Adenosine triphosphate(DB00171) CACCATCCCTAACCGGCTGGC 0.587000 3 41 0 0 1 0 0 TBCD 6904 broad.mit.edu 37 17 80885834 80885834 + Missense_Mutation SNP G G T TCGA-WY-A85B-01A-11D-A36O-08 TCGA-WY-A85B-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ee529a1-6577-4e99-9b07-8399e6b02b53 38a6ec3f-e917-49b1-8d02-13793403b672 g.chr17:80885834G>T ENST00000355528.4 + 30 2793 c.2663G>T c.(2662-2664)cGg>cTg p.R888L TBCD_ENST00000539345.2_Missense_Mutation_p.R888L NM_005993.4 NP_005984.3 Q9BTW9 TBCD_HUMAN tubulin folding cofactor D 888 'de novo' posttranslational protein folding|adherens junction assembly|negative regulation of cell-substrate adhesion|negative regulation of microtubule polymerization|post-chaperonin tubulin folding pathway|tight junction assembly adherens junction|cytoplasm|lateral plasma membrane|microtubule|tight junction beta-tubulin binding|chaperone binding|GTPase activator activity Breast(20;0.000523)|all_neural(118;0.0779) all_cancers(8;0.0266)|all_epithelial(8;0.0696) OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.18) CTGCTGGCTCGGAGCCAGCCT 0.637000 3 55 1 1 1 1 0 MMRN1 22915 broad.mit.edu 37 4 90816388 90816388 + Missense_Mutation SNP G G T TCGA-WY-A85B-01A-11D-A36O-08 TCGA-WY-A85B-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ee529a1-6577-4e99-9b07-8399e6b02b53 38a6ec3f-e917-49b1-8d02-13793403b672 g.chr4:90816388G>T ENST00000394980.1 + 2 585 c.266G>T c.(265-267)aGt>aTt p.S89I MMRN1_ENST00000264790.2_Missense_Mutation_p.S89I|MMRN1_ENST00000394981.1_Intron Q13201 MMRN1_HUMAN multimerin 1 89 cell adhesion|platelet activation|platelet degranulation extracellular region|platelet alpha granule lumen breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|liver(2)|lung(34)|ovary(5)|prostate(1)|skin(6)|stomach(1)|urinary_tract(2) 72 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;6.96e-05) TCAGAAACAAGTGCACCTGCT 0.493000 4 55 0.00909568 0.00966416 1 1 0 DNM1P46 0 broad.mit.edu 37 15 100339848 100339848 + RNA SNP C C T rs142059153 by1000genomes TCGA-WY-A85B-01A-11D-A36O-08 TCGA-WY-A85B-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ee529a1-6577-4e99-9b07-8399e6b02b53 38a6ec3f-e917-49b1-8d02-13793403b672 g.chr15:100339848C>T ENST00000341853.1 - 0 1078 NR_003260.1 TGCAGCTAGGCGTCGTCCACG 0.637000 5 26 0 0 1 0 0 DNM1P47 0 broad.mit.edu 37 15 102292953 102292953 + RNA SNP T T C TCGA-WY-A85B-01A-11D-A36O-08 TCGA-WY-A85B-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ee529a1-6577-4e99-9b07-8399e6b02b53 38a6ec3f-e917-49b1-8d02-13793403b672 g.chr15:102292953T>C ENST00000561463.1 + 0 999 GGCACAGCGGTGCGACGAGAT 0.587000 4 15 0 0 1 0 0 PTH2 113091 broad.mit.edu 37 19 49926533 49926533 + Missense_Mutation SNP G G C TCGA-WY-A85B-01A-11D-A36O-08 TCGA-WY-A85B-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ee529a1-6577-4e99-9b07-8399e6b02b53 38a6ec3f-e917-49b1-8d02-13793403b672 g.chr19:49926533G>C ENST00000270631.1 - 1 165 c.64C>G c.(64-66)Ctg>Gtg p.L22V NM_178449.3 NP_848544.1 Q96A98 TIP39_HUMAN parathyroid hormone 2 22 neuropeptide signaling pathway extracellular region p.L22V(2) endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|skin(1) 6 OV - Ovarian serous cystadenocarcinoma(262;0.0015)|GBM - Glioblastoma multiforme(486;0.044)|Lung(386;0.0785)|LUSC - Lung squamous cell carcinoma(496;0.0836) GGCACCACcagcagcagcagc 0.692000 3 9 0 0 1 0 0 KRTAP4-9 100132386 broad.mit.edu 37 17 39262039 39262039 + Missense_Mutation SNP C C G TCGA-WY-A85B-01A-11D-A36O-08 TCGA-WY-A85B-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ee529a1-6577-4e99-9b07-8399e6b02b53 38a6ec3f-e917-49b1-8d02-13793403b672 g.chr17:39262039C>G ENST00000391415.1 + 1 456 c.399C>G c.(397-399)agC>agG p.S133R NM_001146041.1 NP_001139513.1 Q9BYQ8 KRA49_HUMAN keratin associated protein 4-9 133 29 X 5 AA repeats of C-C-[RQVHIEK]- [SPTR]-[VSTQCRNP]. keratin filament p.S133R(1)|p.S121R(1) central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|urinary_tract(3) 14 gtgtgtccagctgctgcaagc 0.652000 3 31 0 0 1 0 0 LINC00264 0 broad.mit.edu 37 10 26880266 26880266 + RNA SNP G G A rs138111133 by1000genomes TCGA-WY-A85B-01A-11D-A36O-08 TCGA-WY-A85B-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ee529a1-6577-4e99-9b07-8399e6b02b53 38a6ec3f-e917-49b1-8d02-13793403b672 g.chr10:26880266G>A ENST00000412114.1 + 0 501 NR_026793.1 ACCAAGCCCAGTGGACAGATG 0.443000 3 30 0 0 1 0 0 RYR3 6263 broad.mit.edu 37 15 33955132 33955132 + Missense_Mutation SNP G G A TCGA-WY-A85B-01A-11D-A36O-08 TCGA-WY-A85B-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ee529a1-6577-4e99-9b07-8399e6b02b53 38a6ec3f-e917-49b1-8d02-13793403b672 g.chr15:33955132G>A ENST00000389232.4 + 35 5471 c.5401G>A c.(5401-5403)Gaa>Aaa p.E1801K RYR3_ENST00000415757.3_Missense_Mutation_p.E1801K NM_001036.3 NP_001027.3 Q15413 RYR3_HUMAN ryanodine receptor 3 1801 4 X approximate repeats. cellular calcium ion homeostasis integral to membrane calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3) 311 all_lung(180;7.18e-09) all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363) TCGATTACCCGAATCCGTCAA 0.512000 4 126 0 0 1 0 0 IDH1 3417 broad.mit.edu 37 2 209113113 209113113 + Missense_Mutation SNP G G C rs121913499 TCGA-WY-A85B-01A-11D-A36O-08 TCGA-WY-A85B-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ee529a1-6577-4e99-9b07-8399e6b02b53 38a6ec3f-e917-49b1-8d02-13793403b672 g.chr2:209113113G>C ENST00000415913.1 - 4 775 c.394C>G c.(394-396)Cgt>Ggt p.R132G IDH1_ENST00000446179.1_Missense_Mutation_p.R132G|IDH1_ENST00000345146.2_Missense_Mutation_p.R132G 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.R132C(446)|p.R132G(125)|p.R132S(106)|p.G131_R132>VL(1)|p.R132V(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) TAAGCATGACGACCTATGATG 0.398000 Mis gliobastoma 32 54 0 0 1 0 0 C8orf34 116328 broad.mit.edu 37 8 69434080 69434080 + Missense_Mutation SNP G G A TCGA-WY-A85B-01A-11D-A36O-08 TCGA-WY-A85B-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ee529a1-6577-4e99-9b07-8399e6b02b53 38a6ec3f-e917-49b1-8d02-13793403b672 g.chr8:69434080G>A ENST00000337103.4 + 5 2071 c.479G>A c.(478-480)gGa>gAa p.G160E C8orf34_ENST00000518698.1_Missense_Mutation_p.G271E|C8orf34_ENST00000539993.1_Missense_Mutation_p.G185E|C8orf34_ENST00000348340.2_Missense_Mutation_p.G185E|C8orf34_ENST00000349492.3_3'UTR Q49A92 CH034_HUMAN chromosome 8 open reading frame 34 185 signal transduction cAMP-dependent protein kinase regulator activity NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(12)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 36 Epithelial(68;0.0117)|OV - Ovarian serous cystadenocarcinoma(28;0.0227)|all cancers(69;0.0502) CGTGTGATTGGAGAATGGATT 0.403000 15 31 0 0 1 0 0 BOC 91653 broad.mit.edu 37 3 112969621 112969621 + Missense_Mutation SNP G G T TCGA-WY-A85B-01A-11D-A36O-08 TCGA-WY-A85B-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ee529a1-6577-4e99-9b07-8399e6b02b53 38a6ec3f-e917-49b1-8d02-13793403b672 g.chr3:112969621G>T ENST00000495514.1 + 4 1021 c.317G>T c.(316-318)tGt>tTt p.C106F BOC_ENST00000273395.4_Missense_Mutation_p.C106F|BOC_ENST00000485230.1_Missense_Mutation_p.C106F|BOC_ENST00000484034.1_Missense_Mutation_p.C106F|BOC_ENST00000355385.3_Missense_Mutation_p.C106F Q9BWV1 BOC_HUMAN BOC cell adhesion associated, oncogene regulated 106 Ig-like C2-type 1. cell adhesion|muscle cell differentiation|positive regulation of myoblast differentiation integral to membrane|plasma membrane protein binding NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 68 Epithelial(53;0.227) CGGTACCAGTGTGTGGCCCGG 0.622000 6 31 0.00116845 0.00128152 1 1 0 DPY19L2P1 0 broad.mit.edu 37 7 35131480 35131480 + RNA SNP A A T TCGA-WY-A85B-01A-11D-A36O-08 TCGA-WY-A85B-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ee529a1-6577-4e99-9b07-8399e6b02b53 38a6ec3f-e917-49b1-8d02-13793403b672 g.chr7:35131480A>T ENST00000436258.1 - 0 1889 ATCTTCGTAAAGTGGATGATT 0.423000 3 53 0 0 1 0 0 MPG 4350 broad.mit.edu 37 16 133194 133194 + Silent SNP G G A rs4986985 byFrequency TCGA-WY-A85B-01A-11D-A36O-08 TCGA-WY-A85B-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ee529a1-6577-4e99-9b07-8399e6b02b53 38a6ec3f-e917-49b1-8d02-13793403b672 g.chr16:133194G>A ENST00000219431.4 + 4 690 c.459G>A c.(457-459)ccG>ccA p.P153P MPG_ENST00000397817.1_Silent_p.P136P NM_002434.3 NP_002425.2 P29372 3MG_HUMAN N-methylpurine-DNA glycosylase 153 depurination|DNA dealkylation involved in DNA repair nucleoplasm alkylbase DNA N-glycosylase activity|damaged DNA binding|identical protein binding endometrium(4)|kidney(1)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 9 all_cancers(16;9.01e-08)|all_epithelial(16;7.64e-07)|Hepatocellular(780;0.000325)|Lung NSC(18;0.0104)|all_lung(18;0.0239) TCATGAAGCCGGGGACCCTGT 0.632000 Base excision repair (BER), DNA glycosylases 17 190 0 0 1 0 0 RFPL2 10739 broad.mit.edu 37 22 32588988 32588988 + Missense_Mutation SNP G G A TCGA-WY-A85B-01A-11D-A36O-08 TCGA-WY-A85B-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ee529a1-6577-4e99-9b07-8399e6b02b53 38a6ec3f-e917-49b1-8d02-13793403b672 g.chr22:32588988G>A ENST00000400236.3 - 4 1392 c.187C>T c.(187-189)Cgc>Tgc p.R63C RFPL2_ENST00000248980.4_Missense_Mutation_p.R92C|RFPL2_ENST00000248983.4_Missense_Mutation_p.R63C|RFPL2_ENST00000489846.1_5'UTR|RFPL2_ENST00000400237.1_Missense_Mutation_p.R153C NM_001098527.2 NP_001091997.2 O75678 RFPL2_HUMAN ret finger protein-like 2 153 zinc ion binding endometrium(2)|kidney(4)|large_intestine(3)|lung(9)|ovary(1)|skin(2) 21 TGCCGATTGCGCCTGATTTTG 0.522000 5 102 0 0 1 0 0 CDO1 1036 broad.mit.edu 37 5 115142186 115142186 + Missense_Mutation SNP T T C TCGA-WY-A85B-01A-11D-A36O-08 TCGA-WY-A85B-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ee529a1-6577-4e99-9b07-8399e6b02b53 38a6ec3f-e917-49b1-8d02-13793403b672 g.chr5:115142186T>C ENST00000250535.4 - 4 989 c.433A>G c.(433-435)Atc>Gtc p.I145V CDO1_ENST00000502631.1_5'UTR NM_001801.2 NP_001792.2 Q16878 CDO1_HUMAN cysteine dioxygenase type 1 145 inflammatory response|sulfur amino acid biosynthetic process|taurine biosynthetic process cytosol cysteine dioxygenase activity breast(1)|endometrium(1)|large_intestine(3)|lung(1)|skin(5) 11 all_cancers(142;0.0046)|all_epithelial(76;0.000161)|Prostate(80;0.0132)|Ovarian(225;0.0776) OV - Ovarian serous cystadenocarcinoma(64;7.8e-08)|Epithelial(69;7.32e-07)|all cancers(49;3.24e-05) L-Cysteine(DB00151)|NADH(DB00157) GTATGGCTGATGTTCTCTACT 0.413000 14 32 0 0 1 0 0 TP53 7157 broad.mit.edu 37 17 7577121 7577121 + Missense_Mutation SNP G G A rs121913343 TCGA-WY-A85B-01A-11D-A36O-08 TCGA-WY-A85B-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ee529a1-6577-4e99-9b07-8399e6b02b53 38a6ec3f-e917-49b1-8d02-13793403b672 g.chr17:7577121G>A ENST00000420246.2 - 8 949 c.817C>T c.(817-819)Cgt>Tgt p.R273C TP53_ENST00000269305.4_Missense_Mutation_p.R273C|TP53_ENST00000445888.2_Missense_Mutation_p.R273C|TP53_ENST00000455263.2_Missense_Mutation_p.R273C|TP53_ENST00000359597.4_Missense_Mutation_p.R273C|TP53_ENST00000413465.2_Intron 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) 20 3 0 0 1 0 0 OR51T1 401665 broad.mit.edu 37 11 4903765 4903765 + Silent SNP C C T rs138268565 TCGA-WY-A85B-01A-11D-A36O-08 TCGA-WY-A85B-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ee529a1-6577-4e99-9b07-8399e6b02b53 38a6ec3f-e917-49b1-8d02-13793403b672 g.chr11:4903765C>T ENST00000380378.1 + 1 717 c.717C>T c.(715-717)gaC>gaT p.D239D MMP26_ENST00000380390.1_Intron|OR51T1_ENST00000322049.1_Silent_p.D212D|MMP26_ENST00000477339.1_Intron NM_001004759.1 NP_001004759.1 Q8NGJ9 O51T1_HUMAN olfactory receptor, family 51, subfamily T, member 1 212 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|skin(3)|upper_aerodigestive_tract(1) 34 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19) ATGGCACTGACGTATTGTTTA 0.443000 8 73 0 0 1 0 0 KCNK2 3776 broad.mit.edu 37 1 215368303 215368303 + Silent SNP C C T rs149941939 by1000genomes TCGA-WY-A85B-01A-11D-A36O-08 TCGA-WY-A85B-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ee529a1-6577-4e99-9b07-8399e6b02b53 38a6ec3f-e917-49b1-8d02-13793403b672 g.chr1:215368303C>T ENST00000444842.2 + 6 981 c.831C>T c.(829-831)tcC>tcT p.S277S KCNK2_ENST00000391894.2_Silent_p.S262S|KCNK2_ENST00000391895.2_Silent_p.S273S NM_001017425.2|NM_014217.3 NP_001017425.2|NP_055032.1 O95069 KCNK2_HUMAN potassium channel, subfamily K, member 2 277 outward rectifier potassium channel activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|upper_aerodigestive_tract(1) 30 OV - Ovarian serous cystadenocarcinoma(81;0.0399)|all cancers(67;0.0556)|GBM - Glioblastoma multiforme(131;0.068) Dofetilide(DB00204) CAGGTGGATCCGATATTGAAT 0.373000 19 139 0 0 1 0 0 HNRNPCL1 343069 broad.mit.edu 37 1 12907676 12907676 + Missense_Mutation SNP C C T TCGA-WY-A85B-01A-11D-A36O-08 TCGA-WY-A85B-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ee529a1-6577-4e99-9b07-8399e6b02b53 38a6ec3f-e917-49b1-8d02-13793403b672 g.chr1:12907676C>T ENST00000317869.6 - 2 692 c.467G>A c.(466-468)gGc>gAc p.G156D NM_001013631.1|NM_001136561.2|NM_001146181.1 NP_001013653.1|NP_001130033.2|NP_001139653.1 heterogeneous nuclear ribonucleoprotein C-like 1 NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|stomach(2) 29 GCCACTTTTGCCCCTTCGTGA 0.507000 18 342 0 0 1 0 0 HSD17B7P2 0 broad.mit.edu 37 10 38654432 38654432 + RNA SNP A A G rs2257765 TCGA-WY-A85B-01A-11D-A36O-08 TCGA-WY-A85B-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ee529a1-6577-4e99-9b07-8399e6b02b53 38a6ec3f-e917-49b1-8d02-13793403b672 g.chr10:38654432A>G ENST00000494540.1 + 0 599 NR_003086.1 TCATCTCGCAATGCAAGGAAA 0.453000 3 40 0 0 1 0 0 KCNA4 3739 broad.mit.edu 37 11 30033344 30033344 + Missense_Mutation SNP C C G TCGA-WY-A85B-01A-11D-A36O-08 TCGA-WY-A85B-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ee529a1-6577-4e99-9b07-8399e6b02b53 38a6ec3f-e917-49b1-8d02-13793403b672 g.chr11:30033344C>G ENST00000328224.6 - 2 2115 c.882G>C c.(880-882)tgG>tgC p.W294C NM_002233.3 NP_002224.1 P22459 KCNA4_HUMAN potassium voltage-gated channel, shaker-related subfamily, member 4 294 voltage-gated potassium channel complex potassium ion binding|protein binding|voltage-gated potassium channel activity central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(39)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1) 78 CAAAGAGGAGCCAAATCTGCT 0.507000 4 51 0 0 1 0 0 ATRX 546 broad.mit.edu 37 X 76845304 76845304 + Splice_Site SNP C C T TCGA-WY-A85B-01A-11D-A36O-08 TCGA-WY-A85B-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ee529a1-6577-4e99-9b07-8399e6b02b53 38a6ec3f-e917-49b1-8d02-13793403b672 g.chrX:76845304C>T ENST00000373344.5 - 27 6431 c.6217_splice c.e27+1 p.G2073_splice ATRX_ENST00000395603.3_Splice_Site_p.G2035_splice|ATRX_ENST00000480283.1_5'UTR NM_000489.3 NP_000480.2 P46100 ATRX_HUMAN alpha thalassemia/mental retardation syndrome X-linked 2073 Helicase C-terminal. 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) TGTAGCTCACCTTTATAAATA 0.323000 """Mis, F, N""" """Pancreatic neuroendocrine tumors, paediatric GBM""" ATR-X (alpha thalassemia/mental retardation) syndrome 22 2 0 0 1 0 0 RAI1 10743 broad.mit.edu 37 17 17698750 17698750 + Missense_Mutation SNP G G A TCGA-WY-A85B-01A-11D-A36O-08 TCGA-WY-A85B-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ee529a1-6577-4e99-9b07-8399e6b02b53 38a6ec3f-e917-49b1-8d02-13793403b672 g.chr17:17698750G>A ENST00000353383.1 + 3 2957 c.2488G>A c.(2488-2490)Gag>Aag p.E830K RAI1_ENST00000261641.6_Missense_Mutation_p.E830K NM_030665.3 NP_109590.3 Q7Z5J4 RAI1_HUMAN retinoic acid induced 1 830 cytoplasm|nucleus zinc ion binding breast(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(5)|urinary_tract(7) 48 READ - Rectum adenocarcinoma(1115;0.0276) GCAGTGCCCCGAGGTGGCCAA 0.692000 7 11 0 0 1 0 0 MST1L 0 broad.mit.edu 37 1 17085171 17085171 + RNA SNP T T C rs142276525 by1000genomes TCGA-WY-A85B-01A-11D-A36O-08 TCGA-WY-A85B-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ee529a1-6577-4e99-9b07-8399e6b02b53 38a6ec3f-e917-49b1-8d02-13793403b672 g.chr1:17085171T>C ENST00000455405.2 - 0 105 ACTCGTAACCTGGGGGGGTCC 0.577000 3 26 0 0 1 0 0 CD86 942 broad.mit.edu 37 3 121838286 121838287 + Splice_Site INS - - A TCGA-WY-A85B-01A-11D-A36O-08 TCGA-WY-A85B-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ee529a1-6577-4e99-9b07-8399e6b02b53 38a6ec3f-e917-49b1-8d02-13793403b672 g.chr3:121838286_121838287insA ENST00000330540.2 + 7 1011_1012 c.893_splice c.e7-1 p.K299_splice CD86_ENST00000264468.5_Splice_Site_p.K86_splice|CD86_ENST00000493101.1_Splice_Site_p.K187_splice|CD86_ENST00000469710.1_Splice_Site_p.K217_splice|CD86_ENST00000393627.2_Splice_Site_p.K293_splice NM_175862.4 NP_787058.4 P42081 CD86_HUMAN CD86 molecule 299 interspecies interaction between organisms|positive regulation of cell proliferation|positive regulation of interleukin-2 biosynthetic process|positive regulation of interleukin-4 biosynthetic process|positive regulation of lymphotoxin A biosynthetic process|positive regulation of T-helper 2 cell differentiation|positive regulation of transcription, DNA-dependent|T cell costimulation coreceptor activity|protein binding breast(2)|endometrium(1)|kidney(1)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(3) 23 GBM - Glioblastoma multiforme(114;0.156) Abatacept(DB01281) TTTCTCCAGAGAAAAAATCCAT 0.337 34 56 --- --- --- ---