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 COMMD1 150684 broad.mit.edu 37 2 62132935 62132935 + Missense_Mutation SNP C C A TCGA-DO-A1JZ-01A-11D-A13W-08 TCGA-DO-A1JZ-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7c622602-14bf-4377-bb3d-c6197a55a8cc 6f4ff365-ee63-40d0-8f71-ed062f755d22 g.chr2:62132935C>A uc002sbp.3 + 0 133 c.122C>A c.(121-123)cCa>cAa p.P41Q NM_152516 NP_689729 Q8N668 COMD1_HUMAN Homo sapiens copper metabolism (Murr1) domain containing 1 (COMMD1), mRNA. 41 copper ion homeostasis|negative regulation of NF-kappaB transcription factor activity|positive regulation of protein ubiquitination|regulation of proteasomal ubiquitin-dependent protein catabolic process Cul2-RING ubiquitin ligase complex|cell junction|cytoplasm|nucleolus copper ion binding|protein homodimerization activity large_intestine(1)|liver(2)|lung(5)|ovary(1) 9 Lung NSC(7;0.035)|all_lung(7;0.0691) LUSC - Lung squamous cell carcinoma(7;4.73e-07)|Epithelial(17;0.0216)|all cancers(80;0.0934) CAGCTATATCCAGAGGTGCCA 0.597000 3 49 0 0 1 0 0 NEIL3 55247 broad.mit.edu 37 4 178283471 178283471 + Missense_Mutation SNP A A G TCGA-DO-A1JZ-01A-11D-A13W-08 TCGA-DO-A1JZ-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7c622602-14bf-4377-bb3d-c6197a55a8cc 6f4ff365-ee63-40d0-8f71-ed062f755d22 g.chr4:178283471A>G uc003iut.2 + 9 1781 c.1664A>G c.(1663-1665)aAc>aGc p.N555S NM_018248 NP_060718 Q8TAT5 NEIL3_HUMAN Homo sapiens nei endonuclease VIII-like 3 (E. coli) (NEIL3), mRNA. 555 base-excision repair|nucleotide-excision repair nucleus DNA N-glycosylase activity|DNA-(apurinic or apyrimidinic site) lyase activity|bubble DNA binding|damaged DNA binding|double-stranded DNA binding|single-stranded DNA binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 29 Breast(14;6.27e-05)|Melanoma(52;0.00102)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.164) all cancers(43;1.96e-23)|Epithelial(43;2.52e-20)|OV - Ovarian serous cystadenocarcinoma(60;1.89e-11)|GBM - Glioblastoma multiforme(59;9.49e-05)|Colorectal(24;0.00013)|COAD - Colon adenocarcinoma(29;0.000696)|STAD - Stomach adenocarcinoma(60;0.00308)|LUSC - Lung squamous cell carcinoma(193;0.0398)|READ - Rectum adenocarcinoma(43;0.191) CCATTCTGCAACCATGGCAAG 0.388000 Base excision repair (BER), DNA glycosylases 15 73 0 0 1 0 0 CDK5RAP1 51654 broad.mit.edu 37 20 31981850 31981850 + Missense_Mutation SNP G G A TCGA-DO-A1JZ-01A-11D-A13W-08 TCGA-DO-A1JZ-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7c622602-14bf-4377-bb3d-c6197a55a8cc 6f4ff365-ee63-40d0-8f71-ed062f755d22 g.chr20:31981850G>A uc010gek.3 - 3 555 c.431C>T c.(430-432)aCa>aTa p.T144I CDK5RAP1_uc002wyy.3_Missense_Mutation_p.T54I|CDK5RAP1_uc002wyz.3_Missense_Mutation_p.T144I|CDK5RAP1_uc002wza.3_Missense_Mutation_p.T144I|CDK5RAP1_uc010gel.3_Missense_Mutation_p.T54I|CDK5RAP1_uc010gem.3_Missense_Mutation_p.T144I|CDK5RAP1_uc002wzc.1_Missense_Mutation_p.T144I|CDK5RAP1_uc010gen.3_Missense_Mutation_p.T144I NM_016408 NP_057492 Q96SZ6 CK5P1_HUMAN Homo sapiens CDK5 regulatory subunit associated protein 1 (CDK5RAP1), transcript variant 1, mRNA. 144 CDK5 activation inhibition.|MTTase N-terminal. brain development|negative regulation of cyclin-dependent protein kinase activity|regulation of neuron differentiation|tRNA modification cytoplasm 4 iron, 4 sulfur cluster binding|metal ion binding|neuronal Cdc2-like kinase binding|transferase activity endometrium(2)|kidney(2)|large_intestine(3)|lung(12)|ovary(3)|skin(3)|urinary_tract(1) 26 GATAGAGCATGTGACAAGGAG 0.403000 5 87 0 0 1 0 0 POLR1A 25885 broad.mit.edu 37 2 86297188 86297188 + Missense_Mutation SNP C C T TCGA-DO-A1JZ-01A-11D-A13W-08 TCGA-DO-A1JZ-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7c622602-14bf-4377-bb3d-c6197a55a8cc 6f4ff365-ee63-40d0-8f71-ed062f755d22 g.chr2:86297188C>T uc002sqs.3 - 12 2198 c.1819G>A c.(1819-1821)Gag>Aag p.E607K NM_015425 NP_056240 O95602 RPA1_HUMAN Homo sapiens polymerase (RNA) I polypeptide A, 194kDa (POLR1A), mRNA. 607 termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter DNA-directed RNA polymerase I complex|nucleoplasm DNA binding|DNA-directed RNA polymerase activity|protein binding|zinc ion binding NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(5) 63 ACGTAGGCCTCGGCCCGGCCC 0.572000 19 15 0 0 1 0 0 TP53BP1 7158 broad.mit.edu 37 15 43738684 43738684 + Missense_Mutation SNP C C A TCGA-DO-A1JZ-01A-11D-A13W-08 TCGA-DO-A1JZ-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7c622602-14bf-4377-bb3d-c6197a55a8cc 6f4ff365-ee63-40d0-8f71-ed062f755d22 g.chr15:43738684C>A uc001zrr.4 - 13 3054 c.2941G>T c.(2941-2943)Ggg>Tgg p.G981W TP53BP1_uc010udp.2_Missense_Mutation_p.G976W|TP53BP1_uc001zrq.4_Missense_Mutation_p.G981W|TP53BP1_uc001zrs.3_Missense_Mutation_p.G976W|TP53BP1_uc010udq.1_Missense_Mutation_p.G981W NM_001141980 NP_005648 Q12888 TP53B_HUMAN Homo sapiens tumor protein p53 binding protein 1 (TP53BP1), transcript variant 1, mRNA. 976 double-strand break repair via homologous recombination|positive regulation of transcription from RNA polymerase II promoter condensed chromosome kinetochore|cytoplasm|nucleoplasm RNA polymerase II activating transcription factor binding|RNA polymerase II transcription cofactor activity|p53 binding breast(4)|endometrium(5)|kidney(7)|large_intestine(22)|lung(13)|ovary(4)|pancreas(2)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(3) 72 all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728) GBM - Glioblastoma multiforme(94;1.59e-06) GGGGCAGCCCCAGAATCCCCT 0.473000 Other conserved DNA damage response genes 84 87 0 0 1 0 0 PIDD 55367 broad.mit.edu 37 11 799816 799816 + Splice_Site SNP G G A TCGA-DO-A1JZ-01A-11D-A13W-08 TCGA-DO-A1JZ-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7c622602-14bf-4377-bb3d-c6197a55a8cc 6f4ff365-ee63-40d0-8f71-ed062f755d22 g.chr11:799816G>A uc001lro.2 - 15 2621 c.2474_splice c.e15+1 p.R825_splice SLC25A22_uc009yci.3_5'Flank|SLC25A22_uc001lrj.3_5'Flank|PIDD_uc009yck.1_Splice_Site|PIDD_uc001lrl.1_Splice_Site_p.R668_splice|PIDD_uc001lrm.1_Splice_Site_p.R512_splice|PIDD_uc001lrn.2_Splice_Site_p.R668_splice|PIDD_uc001lrk.2_Splice_Site_p.R808_splice|PIDD_uc001lrp.2_3'UTR NM_145886 NP_665893 Q9HB75 PIDD_HUMAN Homo sapiens p53-induced death domain protein (PIDD), transcript variant 1, mRNA. 825 Death. apoptosis|signal transduction cytoplasm|nucleus death receptor binding GAGCCTCACCGGAACTCGTGC 0.687000 2 0 0 0 1 0 0 COMMD1 150684 broad.mit.edu 37 2 62132935 62132935 + Missense_Mutation SNP C C A TCGA-DO-A1JZ-01A-11D-A13W-08 TCGA-DO-A1JZ-11A-11D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7c622602-14bf-4377-bb3d-c6197a55a8cc 64f1b3b9-24c9-4715-b6ce-834b3443d46f g.chr2:62132935C>A uc002sbp.3 + 0 133 c.122C>A c.(121-123)cCa>cAa p.P41Q NM_152516 NP_689729 Q8N668 COMD1_HUMAN Homo sapiens copper metabolism (Murr1) domain containing 1 (COMMD1), mRNA. 41 copper ion homeostasis|negative regulation of NF-kappaB transcription factor activity|positive regulation of protein ubiquitination|regulation of proteasomal ubiquitin-dependent protein catabolic process Cul2-RING ubiquitin ligase complex|cell junction|cytoplasm|nucleolus copper ion binding|protein homodimerization activity large_intestine(1)|liver(2)|lung(5)|ovary(1) 9 Lung NSC(7;0.035)|all_lung(7;0.0691) LUSC - Lung squamous cell carcinoma(7;4.73e-07)|Epithelial(17;0.0216)|all cancers(80;0.0934) CAGCTATATCCAGAGGTGCCA 0.597000 3 49 0 0 1 0 0 NEIL3 55247 broad.mit.edu 37 4 178283471 178283471 + Missense_Mutation SNP A A G TCGA-DO-A1JZ-01A-11D-A13W-08 TCGA-DO-A1JZ-11A-11D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7c622602-14bf-4377-bb3d-c6197a55a8cc 64f1b3b9-24c9-4715-b6ce-834b3443d46f g.chr4:178283471A>G uc003iut.2 + 9 1781 c.1664A>G c.(1663-1665)aAc>aGc p.N555S NM_018248 NP_060718 Q8TAT5 NEIL3_HUMAN Homo sapiens nei endonuclease VIII-like 3 (E. coli) (NEIL3), mRNA. 555 base-excision repair|nucleotide-excision repair nucleus DNA N-glycosylase activity|DNA-(apurinic or apyrimidinic site) lyase activity|bubble DNA binding|damaged DNA binding|double-stranded DNA binding|single-stranded DNA binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 29 Breast(14;6.27e-05)|Melanoma(52;0.00102)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.164) all cancers(43;1.96e-23)|Epithelial(43;2.52e-20)|OV - Ovarian serous cystadenocarcinoma(60;1.89e-11)|GBM - Glioblastoma multiforme(59;9.49e-05)|Colorectal(24;0.00013)|COAD - Colon adenocarcinoma(29;0.000696)|STAD - Stomach adenocarcinoma(60;0.00308)|LUSC - Lung squamous cell carcinoma(193;0.0398)|READ - Rectum adenocarcinoma(43;0.191) CCATTCTGCAACCATGGCAAG 0.388000 Base excision repair (BER), DNA glycosylases 15 73 0 0 1 0 0 CDK5RAP1 51654 broad.mit.edu 37 20 31981850 31981850 + Missense_Mutation SNP G G A TCGA-DO-A1JZ-01A-11D-A13W-08 TCGA-DO-A1JZ-11A-11D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7c622602-14bf-4377-bb3d-c6197a55a8cc 64f1b3b9-24c9-4715-b6ce-834b3443d46f g.chr20:31981850G>A uc010gek.3 - 3 555 c.431C>T c.(430-432)aCa>aTa p.T144I CDK5RAP1_uc002wyy.3_Missense_Mutation_p.T54I|CDK5RAP1_uc002wyz.3_Missense_Mutation_p.T144I|CDK5RAP1_uc002wza.3_Missense_Mutation_p.T144I|CDK5RAP1_uc010gel.3_Missense_Mutation_p.T54I|CDK5RAP1_uc010gem.3_Missense_Mutation_p.T144I|CDK5RAP1_uc002wzc.1_Missense_Mutation_p.T144I|CDK5RAP1_uc010gen.3_Missense_Mutation_p.T144I NM_016408 NP_057492 Q96SZ6 CK5P1_HUMAN Homo sapiens CDK5 regulatory subunit associated protein 1 (CDK5RAP1), transcript variant 1, mRNA. 144 CDK5 activation inhibition.|MTTase N-terminal. brain development|negative regulation of cyclin-dependent protein kinase activity|regulation of neuron differentiation|tRNA modification cytoplasm 4 iron, 4 sulfur cluster binding|metal ion binding|neuronal Cdc2-like kinase binding|transferase activity endometrium(2)|kidney(2)|large_intestine(3)|lung(12)|ovary(3)|skin(3)|urinary_tract(1) 26 GATAGAGCATGTGACAAGGAG 0.403000 5 87 0 0 1 0 0 POLR1A 25885 broad.mit.edu 37 2 86297188 86297188 + Missense_Mutation SNP C C T TCGA-DO-A1JZ-01A-11D-A13W-08 TCGA-DO-A1JZ-11A-11D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7c622602-14bf-4377-bb3d-c6197a55a8cc 64f1b3b9-24c9-4715-b6ce-834b3443d46f g.chr2:86297188C>T uc002sqs.3 - 12 2198 c.1819G>A c.(1819-1821)Gag>Aag p.E607K NM_015425 NP_056240 O95602 RPA1_HUMAN Homo sapiens polymerase (RNA) I polypeptide A, 194kDa (POLR1A), mRNA. 607 termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter DNA-directed RNA polymerase I complex|nucleoplasm DNA binding|DNA-directed RNA polymerase activity|protein binding|zinc ion binding NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(5) 63 ACGTAGGCCTCGGCCCGGCCC 0.572000 19 15 0 0 1 0 0 TP53BP1 7158 broad.mit.edu 37 15 43738684 43738684 + Missense_Mutation SNP C C A TCGA-DO-A1JZ-01A-11D-A13W-08 TCGA-DO-A1JZ-11A-11D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7c622602-14bf-4377-bb3d-c6197a55a8cc 64f1b3b9-24c9-4715-b6ce-834b3443d46f g.chr15:43738684C>A uc001zrr.4 - 13 3054 c.2941G>T c.(2941-2943)Ggg>Tgg p.G981W TP53BP1_uc010udp.2_Missense_Mutation_p.G976W|TP53BP1_uc001zrq.4_Missense_Mutation_p.G981W|TP53BP1_uc001zrs.3_Missense_Mutation_p.G976W|TP53BP1_uc010udq.1_Missense_Mutation_p.G981W NM_001141980 NP_005648 Q12888 TP53B_HUMAN Homo sapiens tumor protein p53 binding protein 1 (TP53BP1), transcript variant 1, mRNA. 976 double-strand break repair via homologous recombination|positive regulation of transcription from RNA polymerase II promoter condensed chromosome kinetochore|cytoplasm|nucleoplasm RNA polymerase II activating transcription factor binding|RNA polymerase II transcription cofactor activity|p53 binding breast(4)|endometrium(5)|kidney(7)|large_intestine(22)|lung(13)|ovary(4)|pancreas(2)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(3) 72 all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728) GBM - Glioblastoma multiforme(94;1.59e-06) GGGGCAGCCCCAGAATCCCCT 0.473000 Other conserved DNA damage response genes 84 87 0 0 1 0 0 PIDD 55367 broad.mit.edu 37 11 799816 799816 + Splice_Site SNP G G A TCGA-DO-A1JZ-01A-11D-A13W-08 TCGA-DO-A1JZ-11A-11D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7c622602-14bf-4377-bb3d-c6197a55a8cc 64f1b3b9-24c9-4715-b6ce-834b3443d46f g.chr11:799816G>A uc001lro.2 - 15 2621 c.2474_splice c.e15+1 p.R825_splice SLC25A22_uc009yci.3_5'Flank|SLC25A22_uc001lrj.3_5'Flank|PIDD_uc009yck.1_Splice_Site|PIDD_uc001lrl.1_Splice_Site_p.R668_splice|PIDD_uc001lrm.1_Splice_Site_p.R512_splice|PIDD_uc001lrn.2_Splice_Site_p.R668_splice|PIDD_uc001lrk.2_Splice_Site_p.R808_splice|PIDD_uc001lrp.2_3'UTR NM_145886 NP_665893 Q9HB75 PIDD_HUMAN Homo sapiens p53-induced death domain protein (PIDD), transcript variant 1, mRNA. 825 Death. apoptosis|signal transduction cytoplasm|nucleus death receptor binding GAGCCTCACCGGAACTCGTGC 0.687000 2 0 0 0 1 0 0 EPG5 57724 broad.mit.edu 37 18 43487997 43487997 + Missense_Mutation SNP C C T TCGA-DO-A1JZ-01A-11D-A13W-08 TCGA-DO-A1JZ-11A-11D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7c622602-14bf-4377-bb3d-c6197a55a8cc 64f1b3b9-24c9-4715-b6ce-834b3443d46f g.chr18:43487997C>T uc002lbm.3 - 23 4355 c.4255G>A c.(4255-4257)Gga>Aga p.G1419R EPG5_uc002lbo.1_Missense_Mutation_p.G1419R|EPG5_uc010xcr.1_Non-coding_Transcript|EPG5_uc010xcs.1_Non-coding_Transcript|EPG5_uc010xcq.1_5'UTR|EPG5_uc002lbn.2_Missense_Mutation_p.G294R NM_020964 NP_066015 Q9HCE0 EPG5_HUMAN Homo sapiens ectopic P-granules autophagy protein 5 homolog (C. elegans) (EPG5), mRNA. 1419 autophagy NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(35)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 95 TAGGTATCTCCTTTTTGAAAA 0.313000 9 89 0 0 1 0 0 PADI2 11240 broad.mit.edu 37 1 17411155 17411155 + Frame_Shift_Del DEL G G - rs149752241 by1000genomes TCGA-DO-A1JZ-01A-11D-A13W-08 TCGA-DO-A1JZ-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7c622602-14bf-4377-bb3d-c6197a55a8cc 6f4ff365-ee63-40d0-8f71-ed062f755d22 g.chr1:17411155delG uc001baf.3 - 7 959 c.877delC c.(877-879)cggfs p.R293fs PADI2_uc010ocm.2_Intron|PADI2_uc001bag.1_Frame_Shift_Del_p.R293fs NM_007365 NP_031391 Q9Y2J8 PADI2_HUMAN Homo sapiens peptidyl arginine deiminase, type II (PADI2), mRNA. 293 peptidyl-citrulline biosynthetic process from peptidyl-arginine cytoplasm calcium ion binding|protein-arginine deiminase activity breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(12)|ovary(4)|pancreas(1)|skin(5)|urinary_tract(3) 29 Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000422)|Renal(390;0.000518)|all_lung(284;0.000546)|Ovarian(437;0.00671)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00583)|BRCA - Breast invasive adenocarcinoma(304;1.49e-05)|COAD - Colon adenocarcinoma(227;1.54e-05)|Kidney(64;0.000258)|KIRC - Kidney renal clear cell carcinoma(64;0.00348)|STAD - Stomach adenocarcinoma(196;0.0072)|READ - Rectum adenocarcinoma(331;0.0698)|Lung(427;0.201) L-Citrulline(DB00155) GGAGCAATCCGGAATATCACG 0.577 2 4 --- --- --- --- PADI2 11240 broad.mit.edu 37 1 17411155 17411155 + Frame_Shift_Del DEL G G - rs149752241 by1000genomes TCGA-DO-A1JZ-01A-11D-A13W-08 TCGA-DO-A1JZ-11A-11D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7c622602-14bf-4377-bb3d-c6197a55a8cc 64f1b3b9-24c9-4715-b6ce-834b3443d46f g.chr1:17411155delG uc001baf.3 - 7 959 c.877delC c.(877-879)cggfs p.R293fs PADI2_uc010ocm.2_Intron|PADI2_uc001bag.1_Frame_Shift_Del_p.R293fs NM_007365 NP_031391 Q9Y2J8 PADI2_HUMAN Homo sapiens peptidyl arginine deiminase, type II (PADI2), mRNA. 293 peptidyl-citrulline biosynthetic process from peptidyl-arginine cytoplasm calcium ion binding|protein-arginine deiminase activity breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(12)|ovary(4)|pancreas(1)|skin(5)|urinary_tract(3) 29 Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000422)|Renal(390;0.000518)|all_lung(284;0.000546)|Ovarian(437;0.00671)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00583)|BRCA - Breast invasive adenocarcinoma(304;1.49e-05)|COAD - Colon adenocarcinoma(227;1.54e-05)|Kidney(64;0.000258)|KIRC - Kidney renal clear cell carcinoma(64;0.00348)|STAD - Stomach adenocarcinoma(196;0.0072)|READ - Rectum adenocarcinoma(331;0.0698)|Lung(427;0.201) L-Citrulline(DB00155) GGAGCAATCCGGAATATCACG 0.577 2 4 --- --- --- ---