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 RAB3GAP2 25782 broad.mit.edu 37 1 220387224 220387224 + Missense_Mutation SNP C C T TCGA-DB-5278-01A-01D-1468-08 TCGA-DB-5278-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6847e993-1414-4e6f-a2af-39ebe218dd7c 80b03480-5d28-481e-a447-59140d82f1f8 g.chr1:220387224C>T ENST00000358951.2 - 3 394 c.278G>A c.(277-279)cGa>cAa p.R93Q NM_012414.3 NP_036546.2 Q9H2M9 RBGPR_HUMAN RAB3 GTPase activating protein subunit 2 (non-catalytic) 93 intracellular protein transport cytoplasm|soluble fraction GTPase activator activity|protein heterodimerization activity breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(1) 39 GBM - Glioblastoma multiforme(131;0.0443) TTTTTGCTCTCGAGCTATCAC 0.363000 23 58 0 0 0.667858 0 0 SLC7A9 11136 broad.mit.edu 37 19 33355655 33355655 + Missense_Mutation SNP T T G TCGA-DB-5278-01A-01D-1468-08 TCGA-DB-5278-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6847e993-1414-4e6f-a2af-39ebe218dd7c 80b03480-5d28-481e-a447-59140d82f1f8 g.chr19:33355655T>G ENST00000023064.4 - 3 306 c.115A>C c.(115-117)Atc>Ctc p.I39L SLC7A9_ENST00000587772.1_Missense_Mutation_p.I39L|SLC7A9_ENST00000590341.1_Missense_Mutation_p.I39L NM_001126335.1|NM_001243036.1|NM_014270.4 NP_001119807.1|NP_001229965.1|NP_055085.1 P82251 BAT1_HUMAN solute carrier family 7 (amino acid transporter light chain, bo,+ system), member 9 39 blood coagulation|cellular amino acid metabolic process|ion transport|leukocyte migration|protein complex assembly integral to plasma membrane L-cystine transmembrane transporter activity|neutral amino acid transmembrane transporter activity|peptide antigen binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1) 32 Esophageal squamous(110;0.137) L-Cystine(DB00138) GTGCCCACGATGATGGAGATG 0.622000 75 60 0 0 0.870114 0 0 NCOR1P1 0 broad.mit.edu 37 20 26084295 26084295 + RNA SNP C C T rs76611503 by1000genomes TCGA-DB-5278-01A-01D-1468-08 TCGA-DB-5278-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6847e993-1414-4e6f-a2af-39ebe218dd7c 80b03480-5d28-481e-a447-59140d82f1f8 g.chr20:26084295C>T ENST00000478176.1 - 0 162 NR_003678.1 p.G41R(1) TGTTTGCCTCCAAATGCTGGA 0.373000 4 86 0 0 0.150653 0 0 CIC 23152 broad.mit.edu 37 19 42799060 42799060 + Missense_Mutation SNP G G A TCGA-DB-5278-01A-01D-1468-08 TCGA-DB-5278-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6847e993-1414-4e6f-a2af-39ebe218dd7c 80b03480-5d28-481e-a447-59140d82f1f8 g.chr19:42799060G>A ENST00000572681.2 + 21 7330 c.7262G>A c.(7261-7263)cGc>cAc p.R2421H CIC_ENST00000160740.3_Missense_Mutation_p.R1513H|CIC_ENST00000575354.2_Missense_Mutation_p.R1515H Q96RK0 CIC_HUMAN capicua transcriptional repressor 1515 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding p.R1515L(1)|p.R1515H(1) autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 82 Prostate(69;0.00682) CGTGAGGTGCGCCAGAAGATC 0.632000 """Mis, F, S""" oligodendroglioma 4 46 0 0 0.150653 0 0 VANGL2 57216 broad.mit.edu 37 1 160389291 160389291 + Missense_Mutation SNP A A G TCGA-DB-5278-01A-01D-1468-08 TCGA-DB-5278-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6847e993-1414-4e6f-a2af-39ebe218dd7c 80b03480-5d28-481e-a447-59140d82f1f8 g.chr1:160389291A>G ENST00000368061.2 + 4 1166 c.692A>G c.(691-693)tAc>tGc p.Y231C VANGL2_ENST00000483408.1_3'UTR NM_020335.2 NP_065068.1 Q9ULK5 VANG2_HUMAN VANGL planar cell polarity protein 2 231 apical protein localization|heart looping|nonmotile primary cilium assembly apical plasma membrane|integral to membrane biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(1) 37 all_cancers(52;1.08e-18)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.111) TTCGTGCACTACCTGGCCGTG 0.647000 3 77 0 0 0.115264 0 0 GTSF1 121355 broad.mit.edu 37 12 54857017 54857017 + Missense_Mutation SNP C C A TCGA-DB-5278-01A-01D-1468-08 TCGA-DB-5278-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6847e993-1414-4e6f-a2af-39ebe218dd7c 80b03480-5d28-481e-a447-59140d82f1f8 g.chr12:54857017C>A ENST00000552397.1 - 4 1078 c.182G>T c.(181-183)cGa>cTa p.R61L RP11-753H16.5_ENST00000552785.1_RNA|GTSF1_ENST00000552395.1_5'UTR|GTSF1_ENST00000305879.5_Missense_Mutation_p.R61L|RP11-753H16.3_ENST00000550474.1_RNA Q8WW33 GTSF1_HUMAN gametocyte specific factor 1 61 metal ion binding central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1) 5 Myeloproliferative disorder(1001;0.00452) AATTTCAGCTCGAGGAACCTG 0.413000 4 98 0.184627 0.237378 0.184627 1 0 SUZ12P 0 broad.mit.edu 37 17 29061941 29061941 + RNA SNP T T C rs112064181 by1000genomes TCGA-DB-5278-01A-01D-1468-08 TCGA-DB-5278-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6847e993-1414-4e6f-a2af-39ebe218dd7c 80b03480-5d28-481e-a447-59140d82f1f8 g.chr17:29061941T>C ENST00000582557.1 + 0 861 TAGATTTCTTTGAACTCGGAA 0.303000 4 143 0 0 0.150653 0 0 NBPF10 100132406 broad.mit.edu 37 1 145359109 145359109 + Missense_Mutation SNP T T A rs3967942 TCGA-DB-5278-01A-01D-1468-08 TCGA-DB-5278-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6847e993-1414-4e6f-a2af-39ebe218dd7c 80b03480-5d28-481e-a447-59140d82f1f8 g.chr1:145359109T>A ENST00000342960.5 + 72 9084 c.9049T>A c.(9049-9051)Tgt>Agt p.C3017S NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.2_Intron NM_001039703.4 NP_001034792.4 A6NDV3 A6NDV3_HUMAN neuroblastoma breakpoint family, member 10 3017 p.C3017S(1) NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2) 73 all_hematologic(923;0.032) Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258) TCTTGAACTGTGTGACTCATG 0.483000 3 41 0 0 0.115264 0 0 SVIL 6840 broad.mit.edu 37 10 29770516 29770516 + Missense_Mutation SNP G G T TCGA-DB-5278-01A-01D-1468-08 TCGA-DB-5278-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6847e993-1414-4e6f-a2af-39ebe218dd7c 80b03480-5d28-481e-a447-59140d82f1f8 g.chr10:29770516G>T ENST00000375398.2 - 30 5546 c.5097C>A c.(5095-5097)caC>caA p.H1699Q SVIL_ENST00000375400.3_Missense_Mutation_p.H1273Q|SVIL_ENST00000535393.1_Missense_Mutation_p.H613Q|SVIL_ENST00000460007.1_5'UTR|PTCHD3P1_ENST00000413405.1_RNA|PTCHD3P1_ENST00000423223.1_RNA|SVIL_ENST00000355867.4_Missense_Mutation_p.H1699Q|PTCHD3P1_ENST00000414457.1_RNA|SVIL_ENST00000538146.1_Missense_Mutation_p.H491Q|PTCHD3P1_ENST00000446807.1_RNA O95425 SVIL_HUMAN supervillin 1699 cytoskeleton organization|skeletal muscle tissue development cell junction|costamere|invadopodium|nucleus|podosome actin filament binding breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2) 112 Breast(68;0.103) GGAATACCTTGTGCTGGGCAA 0.463000 189 365 1.35662e-99 1.92782e-99 0.870114 1 0 AREL1 9870 broad.mit.edu 37 14 75139816 75139816 + Missense_Mutation SNP C C G TCGA-DB-5278-01A-01D-1468-08 TCGA-DB-5278-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6847e993-1414-4e6f-a2af-39ebe218dd7c 80b03480-5d28-481e-a447-59140d82f1f8 g.chr14:75139816C>G ENST00000356357.4 - 10 1779 c.1264G>C c.(1264-1266)Gca>Cca p.A422P AREL1_ENST00000557401.1_5'UTR NM_001039479.1 NP_001034568.1 apoptosis resistant E3 ubiquitin protein ligase 1 AAAGTGGCTGCTAGAATGTTC 0.512000 6 72 0 0 0.681144 0 0 ARPC1B 10095 broad.mit.edu 37 7 98987611 98987611 + Missense_Mutation SNP C C T TCGA-DB-5278-01A-01D-1468-08 TCGA-DB-5278-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6847e993-1414-4e6f-a2af-39ebe218dd7c 80b03480-5d28-481e-a447-59140d82f1f8 g.chr7:98987611C>T ENST00000451682.1 + 7 785 c.476C>T c.(475-477)gCc>gTc p.A159V ARPC1B_ENST00000252725.5_Missense_Mutation_p.A159V O15143 ARC1B_HUMAN actin related protein 2/3 complex, subunit 1B, 41kDa 159 cellular component movement|regulation of actin filament polymerization Arp2/3 protein complex|cytoplasm actin binding|structural constituent of cytoskeleton central_nervous_system(1)|endometrium(2)|large_intestine(5)|liver(2)|lung(1) 11 all_cancers(62;3.49e-09)|all_epithelial(64;2.57e-10)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166) STAD - Stomach adenocarcinoma(171;0.215) CTGCTGGCTGCCGGCTCCTGT 0.632000 4 168 0 0 0.184627 0 0 CHEK2 11200 broad.mit.edu 37 22 29091840 29091840 + Missense_Mutation SNP T T C rs142470496 byFrequency TCGA-DB-5278-01A-01D-1468-08 TCGA-DB-5278-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6847e993-1414-4e6f-a2af-39ebe218dd7c 80b03480-5d28-481e-a447-59140d82f1f8 g.chr22:29091840T>C ENST00000544772.1 - 12 1890 c.454A>G c.(454-456)Aag>Gag p.K152E CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000404276.1_Missense_Mutation_p.K373E|CHEK2_ENST00000348295.3_Missense_Mutation_p.K344E|CHEK2_ENST00000402731.1_Missense_Mutation_p.K344E|CHEK2_ENST00000405598.1_Missense_Mutation_p.K373E|CHEK2_ENST00000328354.6_Missense_Mutation_p.K373E|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000382580.2_Missense_Mutation_p.K416E|CHEK2_ENST00000382578.1_Missense_Mutation_p.K282E|CHEK2_ENST00000403642.1_Missense_Mutation_p.K282E NM_001257387.1 NP_001244316.1 O96017 CHK2_HUMAN checkpoint kinase 2 373 FHA. cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence PML body ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity p.K373E(9) central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2) 50 CCCAAAATCTTGGAGTGCCCA 0.418000 F breast Direct reversal of damage;Other conserved DNA damage response genes 5 97 0 0 0.307466 0 0 CIC 23152 broad.mit.edu 37 19 42791743 42791743 + Missense_Mutation SNP T T G TCGA-DB-5278-01A-01D-1468-08 TCGA-DB-5278-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6847e993-1414-4e6f-a2af-39ebe218dd7c 80b03480-5d28-481e-a447-59140d82f1f8 g.chr19:42791743T>G ENST00000572681.2 + 6 3424 c.3356T>G c.(3355-3357)tTc>tGc p.F1119C CIC_ENST00000160740.3_Missense_Mutation_p.F210C|CIC_ENST00000575354.2_Missense_Mutation_p.F210C Q96RK0 CIC_HUMAN capicua transcriptional repressor 210 Pro-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 82 Prostate(69;0.00682) TTCATGATCTTCAGCAAGCGG 0.627000 """Mis, F, S""" oligodendroglioma 39 38 0 0 0.859065 0 0 CHEK2 11200 broad.mit.edu 37 22 29091841 29091841 + Silent SNP G G A rs146546850 byFrequency TCGA-DB-5278-01A-01D-1468-08 TCGA-DB-5278-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6847e993-1414-4e6f-a2af-39ebe218dd7c 80b03480-5d28-481e-a447-59140d82f1f8 g.chr22:29091841G>A ENST00000544772.1 - 12 1889 c.453C>T c.(451-453)tcC>tcT p.S151S CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000404276.1_Silent_p.S372S|CHEK2_ENST00000348295.3_Silent_p.S343S|CHEK2_ENST00000402731.1_Silent_p.S343S|CHEK2_ENST00000405598.1_Silent_p.S372S|CHEK2_ENST00000328354.6_Silent_p.S372S|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000382580.2_Silent_p.S415S|CHEK2_ENST00000382578.1_Silent_p.S281S|CHEK2_ENST00000403642.1_Silent_p.S281S NM_001257387.1 NP_001244316.1 O96017 CHK2_HUMAN checkpoint kinase 2 372 FHA. cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence PML body ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity p.S372S(8) central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2) 50 CCAAAATCTTGGAGTGCCCAA 0.413000 F breast Direct reversal of damage;Other conserved DNA damage response genes 4 95 0 0 0.307466 0 0 GIMAP6 474344 broad.mit.edu 37 7 150325310 150325310 + Missense_Mutation SNP C C T rs138521615 byFrequency TCGA-DB-5278-01A-01D-1468-08 TCGA-DB-5278-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6847e993-1414-4e6f-a2af-39ebe218dd7c 80b03480-5d28-481e-a447-59140d82f1f8 g.chr7:150325310C>T ENST00000328902.5 - 3 592 c.376G>A c.(376-378)Gtg>Atg p.V126M GIMAP6_ENST00000493969.1_Missense_Mutation_p.R51H NM_001244072.1|NM_024711.5 NP_001231001.1|NP_078987.3 Q6P9H5 GIMA6_HUMAN GTPase, IMAP family member 6 126 GTP binding endometrium(4)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 29 OV - Ovarian serous cystadenocarcinoma(82;0.0145) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) ACCAGGAGCACGGCGTGGGGC 0.622000 40 81 0 0 0.847076 0 0 IDH1 3417 broad.mit.edu 37 2 209113112 209113112 + Missense_Mutation SNP C C T rs121913500 TCGA-DB-5278-01A-01D-1468-08 TCGA-DB-5278-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6847e993-1414-4e6f-a2af-39ebe218dd7c 80b03480-5d28-481e-a447-59140d82f1f8 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 46 72 0 0 0.870114 0 0 PARN 5073 broad.mit.edu 37 16 14680201 14680201 + Frame_Shift_Del DEL T T - TCGA-DB-5278-01A-01D-1468-08 TCGA-DB-5278-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6847e993-1414-4e6f-a2af-39ebe218dd7c 80b03480-5d28-481e-a447-59140d82f1f8 g.chr16:14680201delT ENST00000437198.2 - 14 1077 c.936delA c.(934-936)aafs p.K312fs PARN_ENST00000539279.1_Frame_Shift_Del_p.K137fs|PARN_ENST00000420015.2_Frame_Shift_Del_p.K266fs|PARN_ENST00000341484.7_Frame_Shift_Del_p.K251fs NM_001134477.2|NM_002582.3 NP_001127949.1|NP_002573.1 O95453 PARN_HUMAN poly(A)-specific ribonuclease 312 female gamete generation|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening|RNA modification cytosol|nucleolus metal ion binding|mRNA 3'-UTR binding|nucleotide binding|poly(A)-specific ribonuclease activity|protein binding cervix(2)|endometrium(2)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|urinary_tract(1) 21 TTGTCATCTCTTTAAACTCAC 0.373 2 4 --- --- --- ---