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example.maf
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example.maf
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Master_ID Chromosome Start_Position Reference_Allele Tumor_Seq_Allele2 Hugo_Symbol Entrez_Gene_Id Center NCBI_Build End_Position Strand Variant_Classification Variant_Type Tumor_Seq_Allele1 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 HGVSc HGVSp HGVSp_Short Transcript_ID Exon_Number t_depth t_ref_count t_alt_count n_depth n_ref_count n_alt_count all_effects Allele Gene Feature Feature_type Consequence cDNA_position CDS_position Protein_position Amino_acids Codons Existing_variation ALLELE_NUM DISTANCE STRAND SYMBOL SYMBOL_SOURCE HGNC_ID BIOTYPE CANONICAL CCDS ENSP SWISSPROT TREMBL UNIPARC RefSeq SIFT PolyPhen EXON INTRON DOMAINS GMAF AFR_MAF AMR_MAF ASN_MAF EUR_MAF AA_MAF EA_MAF CLIN_SIG SOMATIC PUBMED MOTIF_NAME MOTIF_POS HIGH_INF_POS MOTIF_SCORE_CHANGE Platform idx allele_freq Is_Ref Ref_Tri
61T 1 118166148 G C FAM46C 0 MSK-IMPACT GRCh37 118166148 + Missense_Mutation SNP G novel NA s_DS_scb_061_P s_DS_scb_061_N G G NA NA NA NA NA NA SOMATIC NA NA NA NA NA MSK-IMPACT NA NA c.658G>C p.Glu220Gln p.E220Q ENST00000369448 2/2 1952 983 969 1010 1007 3 FAM46C,missense_variant,p.Glu220Gln,ENST00000369448; C ENSG00000183508 ENST00000369448 Transcript missense_variant 905/5751 658/1176 220/391 E/Q Gag/Cag 1 NA 1 FAM46C HGNC 24712 protein_coding YES CCDS896.1 ENSP00000358458 FA46C_HUMAN UPI0000070C6C NM_017709.3 tolerated(0.8) benign(0.066) 2/2 Pfam_domain:PF07984 NA NA NA NA IMPACT341 1 118166148 C 0.496413934426229 TRUE TCA
61T 10 89690847 G A PTEN 0 MSK-IMPACT GRCh37 89690847 + Splice_Site SNP G NA s_DS_scb_061_P s_DS_scb_061_N G G NA NA NA NA NA NA SOMATIC NA NA NA NA NA MSK-IMPACT NA NA c.253+1G>A p.X85_splice ENST00000371953 536 36 500 414 413 1 PTEN,splice_donor_variant,,ENST00000371953; A ENSG00000171862 ENST00000371953 Transcript splice_donor_variant -/9027 253/1212 85/403 CS971885,COSM13730,COSM5983,COSM12719 1 NA 1 PTEN HGNC 9588 protein_coding YES CCDS31238.1 ENSP00000361021 PTEN_HUMAN F6KD01_HUMAN,H6WA51_HUMAN,H6WA46_HUMAN UPI00001328C5 NM_000314.4 4/8 0,1,1,1 NA NA NA NA IMPACT341 10 89690847 A 0.932835820895522 TRUE ACC
61T 11 32456699 C G WT1 0 MSK-IMPACT GRCh37 32456699 + Missense_Mutation SNP C novel NA s_DS_scb_061_P s_DS_scb_061_N C C NA NA NA NA NA NA SOMATIC NA NA NA NA NA MSK-IMPACT NA NA c.193G>C p.Glu65Gln p.E65Q ENST00000332351 1/10 715 263 452 494 493 1 WT1,missense_variant,p.Glu65Gln,ENST00000332351;WT1,missense_variant,p.Glu65Gln,ENST00000448076;WT1,upstream_gene_variant,,ENST00000379079;WT1,upstream_gene_variant,,ENST00000530998;WT1-AS,upstream_gene_variant,,ENST00000395900;WT1-AS,upstream_gene_variant,,ENST00000426618;WT1-AS,upstream_gene_variant,,ENST00000494911;WT1-AS,upstream_gene_variant,,ENST00000525436;WT1-AS,upstream_gene_variant,,ENST00000478367;WT1-AS,upstream_gene_variant,,ENST00000442957;WT1-AS,upstream_gene_variant,,ENST00000459866; G ENSG00000184937 ENST00000332351 Transcript missense_variant 478/3122 193/1554 65/517 E/Q Gag/Cag 1 NA -1 WT1 HGNC 12796 protein_coding YES CCDS7878.2 ENSP00000331327 Q6LBI3_HUMAN,J3KNN9_HUMAN,H0Y3F0_HUMAN,E9PPW3_HUMAN,E9PKS2_HUMAN,A8MN20_HUMAN,A0FJ58_HUMAN,A0FJ57_HUMAN UPI0000D625D7 NM_024426.4,NM_024424.3 deleterious(0) possibly_damaging(0.607) 1/10 NA NA NA NA IMPACT341 11 32456699 G 0.632167832167832 TRUE TCA
61T 11 108178629 G C ATM 0 MSK-IMPACT GRCh37 108178629 + Missense_Mutation SNP G novel NA s_DS_scb_061_P s_DS_scb_061_N G G NA NA NA NA NA NA SOMATIC NA NA NA NA NA MSK-IMPACT NA NA c.5680G>C p.Glu1894Gln p.E1894Q ENST00000278616 38/63 823 648 175 491 488 3 ATM,missense_variant,p.Glu1894Gln,ENST00000278616;ATM,missense_variant,p.Glu1894Gln,ENST00000452508;C11orf65,downstream_gene_variant,,ENST00000525729; C ENSG00000149311 ENST00000278616 Transcript missense_variant 6065/13147 5680/9171 1894/3056 E/Q Gag/Cag 1 NA 1 ATM HGNC 795 protein_coding YES CCDS31669.1 ENSP00000278616 ATM_HUMAN M0QXY8_HUMAN,E9PRG7_HUMAN,E9PIN0_HUMAN UPI0000DBEF44 NM_000051.3 tolerated(0.29) benign(0.297) 38/63 Superfamily_domains:SSF48371 NA NA NA NA IMPACT341 11 108178629 C 0.212636695018226 TRUE TCT
61T 13 49037896 C G RB1 0 MSK-IMPACT GRCh37 49037896 + Missense_Mutation SNP C novel NA s_DS_scb_061_P s_DS_scb_061_N C C NA NA NA NA NA NA SOMATIC NA NA NA NA NA MSK-IMPACT NA NA c.2136C>G p.Cys712Trp p.C712W ENST00000267163 21/27 946 91 855 995 993 2 RB1,missense_variant,p.Cys712Trp,ENST00000267163; G ENSG00000139687 ENST00000267163 Transcript missense_variant 2274/4840 2136/2787 712/928 C/W tgC/tgG 1 NA 1 RB1 HGNC 9884 protein_coding YES CCDS31973.1 ENSP00000267163 RB_HUMAN Q7KZ61_HUMAN,Q7KZ60_HUMAN,Q6LE82_HUMAN,Q6LE81_HUMAN,Q6LE80_HUMAN,Q6LE79_HUMAN,Q6LE77_HUMAN,Q6LE65_HUMAN,Q6DUF0_HUMAN,P78495_HUMAN,B4DRB3_HUMAN UPI0000001C79 NM_000321.2 deleterious(0) probably_damaging(0.999) 21/27 Pfam_domain:PF01857,SMART_domains:SM00385,Superfamily_domains:SSF47954 NA NA NA NA IMPACT341 13 49037896 G 0.903805496828753 TRUE GCA
61T 13 49039454 T A RB1 0 MSK-IMPACT GRCh37 49039454 + Nonsense_Mutation SNP T NA s_DS_scb_061_P s_DS_scb_061_N T T NA NA NA NA NA NA SOMATIC NA NA NA NA NA MSK-IMPACT NA NA c.2439T>A p.Tyr813Ter p.Y813* ENST00000267163 23/27 1056 77 979 1048 1047 1 RB1,stop_gained,p.Tyr813Ter,ENST00000267163; A ENSG00000139687 ENST00000267163 Transcript stop_gained 2577/4840 2439/2787 813/928 Y/* taT/taA CM034907 1 NA 1 RB1 HGNC 9884 protein_coding YES CCDS31973.1 ENSP00000267163 RB_HUMAN Q7KZ61_HUMAN,Q7KZ60_HUMAN,Q6LE82_HUMAN,Q6LE81_HUMAN,Q6LE80_HUMAN,Q6LE79_HUMAN,Q6LE77_HUMAN,Q6LE65_HUMAN,Q6DUF0_HUMAN,P78495_HUMAN,B4DRB3_HUMAN UPI0000001C79 NM_000321.2 23/27 Pfam_domain:PF08934 NA NA NA NA IMPACT341 13 49039454 A 0.927083333333333 TRUE ATA
61T 14 81422112 G C TSHR 0 MSK-IMPACT GRCh37 81422112 + Missense_Mutation SNP G novel NA s_DS_scb_061_P s_DS_scb_061_N G G NA NA NA NA NA NA SOMATIC NA NA NA NA NA MSK-IMPACT NA NA c.88G>C p.Glu30Gln p.E30Q ENST00000541158 2/11 1070 74 996 792 790 2 TSHR,missense_variant,p.Glu30Gln,ENST00000541158;TSHR,missense_variant,p.Glu30Gln,ENST00000298171;TSHR,missense_variant,p.Glu30Gln,ENST00000342443;TSHR,missense_variant,p.Glu30Gln,ENST00000554263;TSHR,missense_variant,p.Glu30Gln,ENST00000554435; C ENSG00000165409 ENST00000541158 Transcript missense_variant 410/4566 88/2295 30/764 E/Q Gag/Cag 1 NA 1 TSHR HGNC 12373 protein_coding YES CCDS9872.1 ENSP00000441235 Q0VAP8_HUMAN,F5GYU5_HUMAN UPI000013E4A2 tolerated(0.27) benign(0.013) 2/11 Prints_domain:PR01145,Superfamily_domains:SSF52058 NA NA NA NA IMPACT341 14 81422112 C 0.930841121495327 TRUE TCG
61T 17 7577085 C T TP53 0 MSK-IMPACT GRCh37 7577085 + Missense_Mutation SNP C rs112431538 NA s_DS_scb_061_P s_DS_scb_061_N C C NA NA NA NA NA NA SOMATIC NA NA NA NA NA MSK-IMPACT NA NA c.853G>A p.Glu285Lys p.E285K ENST00000269305 8/11 1998 91 1907 1079 1068 11 TP53,missense_variant,p.Glu285Lys,ENST00000420246;TP53,missense_variant,p.Glu285Lys,ENST00000455263;TP53,missense_variant,p.Glu285Lys,ENST00000269305;TP53,missense_variant,p.Glu285Lys,ENST00000445888;TP53,missense_variant,p.Glu285Lys,ENST00000359597;TP53,intron_variant,,ENST00000413465; T ENSG00000141510 ENST00000269305 Transcript missense_variant 1043/2579 853/1182 285/393 E/K Gag/Aag rs112431538,TP53_g.13833G>A,TP53_g.13833G>C,TP53_g.13833del,TP53_g.13833G>T,CM995136,COSM44388,COSM45138,COSM45600,COSM10722,COSM137087,COSM254990,COSM1649345,COSM1649344 1 NA -1 TP53 HGNC 11998 protein_coding YES CCDS11118.1 ENSP00000269305 P53_HUMAN S5LQU8_HUMAN,Q761V2_HUMAN,Q6IT77_HUMAN,Q1HGV1_HUMAN,Q0PKT5_HUMAN,L0ES54_HUMAN,L0EQ05_HUMAN,K7PPA8_HUMAN,H2EHT1_HUMAN,G4Y083_HUMAN,E9PCY9_HUMAN,E7ESS1_HUMAN,E7EMR6_HUMAN,B5AKF6_HUMAN,B4DNI2_HUMAN,A4GWD0_HUMAN,A4GWB8_HUMAN,A4GWB5_HUMAN,A4GW97_HUMAN,A4GW76_HUMAN,A4GW75_HUMAN,A4GW74_HUMAN,A4GW67_HUMAN,A2I9Z1_HUMAN,A2I9Z0_HUMAN UPI000002ED67 NM_001126112.2,NM_001276761.1,NM_001276760.1,NM_000546.5,NM_001126118.1 deleterious(0.01) probably_damaging(0.985) 8/11 Prints_domain:PR00386,Pfam_domain:PF00870,Superfamily_domains:SSF49417 0,0,0,0,0,0,1,1,1,1,1,1,1,1 NA NA NA NA IMPACT341 17 7577085 T 0.954454454454454 TRUE TCT
61T 19 10252716 G A DNMT1 0 MSK-IMPACT GRCh37 10252716 + Silent SNP G novel NA s_DS_scb_061_P s_DS_scb_061_N G G NA NA NA NA NA NA SOMATIC NA NA NA NA NA MSK-IMPACT NA NA c.3297C>T p.= p.F1099F ENST00000359526 30/41 1001 471 530 601 600 1 DNMT1,synonymous_variant,p.=,ENST00000340748;DNMT1,synonymous_variant,p.=,ENST00000540357;DNMT1,synonymous_variant,p.=,ENST00000359526; A ENSG00000130816 ENST00000359526 Transcript synonymous_variant 3477/5206 3297/4899 1099/1632 F ttC/ttT 1 NA -1 DNMT1 HGNC 2976 protein_coding YES CCDS45958.1 ENSP00000352516 DNMT1_HUMAN K7ELB1_HUMAN,K7EKC3_HUMAN,I6L9H2_HUMAN,B3KVA0_HUMAN UPI000002A823 NM_001130823.1 30/41 Pfam_domain:PF01426,PROSITE_profiles:PS51038,SMART_domains:SM00439,PIRSF_domain:PIRSF037404 NA NA NA NA IMPACT341 19 10252716 A 0.529470529470529 TRUE TCT
61T 19 11152165 C G SMARCA4 0 MSK-IMPACT GRCh37 11152165 + Silent SNP C novel NA s_DS_scb_061_P s_DS_scb_061_N C C NA NA NA NA NA NA SOMATIC NA NA NA NA NA MSK-IMPACT NA NA c.4353C>G p.= p.L1451L ENST00000429416 31/36 1310 758 552 747 746 1 SMARCA4,synonymous_variant,p.=,ENST00000358026;SMARCA4,synonymous_variant,p.=,ENST00000429416;SMARCA4,synonymous_variant,p.=,ENST00000344626;SMARCA4,synonymous_variant,p.=,ENST00000413806;SMARCA4,synonymous_variant,p.=,ENST00000450717;SMARCA4,synonymous_variant,p.=,ENST00000590574;SMARCA4,synonymous_variant,p.=,ENST00000589677;SMARCA4,synonymous_variant,p.=,ENST00000541122;SMARCA4,synonymous_variant,p.=,ENST00000444061; G ENSG00000127616 ENST00000429416 Transcript synonymous_variant 4634/5691 4353/4944 1451/1647 L ctC/ctG 1 NA 1 SMARCA4 HGNC 11100 protein_coding YES CCDS12253.1 ENSP00000395654 SMCA4_HUMAN B4DSI8_HUMAN,A7E2E1_HUMAN UPI000006F973 NM_001128844.1 31/36 Superfamily_domains:SSF47370 NA NA NA NA IMPACT341 19 11152165 G 0.421374045801527 TRUE TCT
61T 19 45856379 G A ERCC2 0 MSK-IMPACT GRCh37 45856379 + Missense_Mutation SNP G novel NA s_DS_scb_061_P s_DS_scb_061_N G G NA NA NA NA NA NA SOMATIC NA NA NA NA NA MSK-IMPACT NA NA c.1793C>T p.Ser598Leu p.S598L ENST00000391945 19/23 1646 826 820 1055 1050 5 ERCC2,missense_variant,p.Ser598Leu,ENST00000391945;ERCC2,missense_variant,p.Ser520Leu,ENST00000391944;KLC3,downstream_gene_variant,,ENST00000470402;KLC3,downstream_gene_variant,,ENST00000391946;KLC3,downstream_gene_variant,,ENST00000585434; A ENSG00000104884 ENST00000391945 Transcript missense_variant 1871/4153 1793/2283 598/760 S/L tCa/tTa 1 NA -1 ERCC2 HGNC 3434 protein_coding YES CCDS33049.1 ENSP00000375809 ERCC2_HUMAN K7EIT8_HUMAN,A8MX75_HUMAN UPI0000139012 NM_000400.3 deleterious(0) probably_damaging(0.938) 19/23 TIGRFAM_domain:TIGR00604,SMART_domains:SM00491,Superfamily_domains:SSF52540 NA NA NA NA IMPACT341 19 45856379 A 0.498177399756987 TRUE TCA
61T 20 31022979 C - ASXL1 0 MSK-IMPACT GRCh37 31022979 + Frame_Shift_Del DEL C novel NA s_DS_scb_061_P s_DS_scb_061_N C C NA NA NA NA NA NA SOMATIC NA NA NA NA NA MSK-IMPACT NA NA c.2464delA p.Thr822HisfsTer2 p.T822Hfs*2 ENST00000375687 13/13 2102 1106 996 1047 1043 4 ASXL1,frameshift_variant,p.Thr822HisfsTer2,ENST00000375687;ASXL1,frameshift_variant,p.Thr817HisfsTer2,ENST00000306058; - ENSG00000171456 ENST00000375687 Transcript frameshift_variant 2888/7031 2464/4626 822/1541 P/X Cca/ca 1 NA 1 ASXL1 HGNC 18318 protein_coding YES CCDS13201.1 ENSP00000364839 ASXL1_HUMAN UPI000036702C NM_015338.5 13/13 NA NA NA NA IMPACT341 20 31022979 - 0.47383444338725 FALSE NA
61T 20 57429261 C A GNAS 0 MSK-IMPACT GRCh37 57429261 + Missense_Mutation SNP C novel NA s_DS_scb_061_P s_DS_scb_061_N C C NA NA NA NA NA NA SOMATIC NA NA NA NA NA MSK-IMPACT NA NA c.941C>A p.Ala314Asp p.A314D ENST00000371100 1/13 2113 1108 1005 1034 1030 4 GNAS,missense_variant,p.Ala314Asp,ENST00000371100;GNAS,missense_variant,p.Ala314Asp,ENST00000371099;GNAS,missense_variant,p.Ala314Asp,ENST00000371102;GNAS,missense_variant,p.Pro251Thr,ENST00000306120;GNAS,intron_variant,,ENST00000313949;GNAS,intron_variant,,ENST00000371075;GNAS,intron_variant,,ENST00000371098;GNAS-AS1,upstream_gene_variant,,ENST00000424094;GNAS-AS1,upstream_gene_variant,,ENST00000598163; A ENSG00000087460 ENST00000371100 Transcript missense_variant 1493/4029 941/3114 314/1037 A/D gCc/gAc 1 NA 1 GNAS HGNC 4392 protein_coding YES CCDS46622.1 ENSP00000360141 GNAS1_HUMAN S4R3W4_HUMAN,S4R3V9_HUMAN,S4R3F1_HUMAN,S4R3E3_HUMAN,S4R379_HUMAN,B0AZR9_HUMAN UPI0000E444AE NM_001077490.1,NM_080425.2 deleterious(0) unknown(0) 1/13 PROSITE_profiles:PS50099 NA NA NA NA IMPACT341 20 57429261 A 0.475627070515854 TRUE GCC
61T 22 22160297 G C MAPK1 0 MSK-IMPACT GRCh37 22160297 + Missense_Mutation SNP G novel NA s_DS_scb_061_P s_DS_scb_061_N G G NA NA NA NA NA NA SOMATIC NA NA NA NA NA MSK-IMPACT NA NA c.334C>G p.Leu112Val p.L112V ENST00000215832 3/9 806 97 709 843 842 1 MAPK1,missense_variant,p.Leu112Val,ENST00000215832;MAPK1,missense_variant,p.Leu112Val,ENST00000398822;MAPK1,missense_variant,p.Leu112Val,ENST00000544786; C ENSG00000100030 ENST00000215832 Transcript missense_variant 523/11022 334/1083 112/360 L/V Ctt/Gtt 1 NA -1 MAPK1 HGNC 6871 protein_coding YES CCDS13795.1 ENSP00000215832 MK01_HUMAN Q1HBJ4_HUMAN,B4DHN0_HUMAN UPI000000104F NM_002745.4 deleterious(0) probably_damaging(0.957) 3/9 Pfam_domain:PF00069,Pfam_domain:PF07714,Prints_domain:PR01771,PROSITE_profiles:PS50011,SMART_domains:SM00220,SMART_domains:SM00219,Superfamily_domains:SSF56112 NA NA NA NA IMPACT341 22 22160297 C 0.879652605459057 TRUE TCT
61T 22 22161984 G C MAPK1 0 MSK-IMPACT GRCh37 22161984 + Missense_Mutation SNP G novel NA s_DS_scb_061_P s_DS_scb_061_N G G NA NA NA NA NA NA SOMATIC NA NA NA NA NA MSK-IMPACT NA NA c.271C>G p.Arg91Gly p.R91G ENST00000215832 2/9 1143 121 1022 1175 1172 3 MAPK1,missense_variant,p.Arg91Gly,ENST00000215832;MAPK1,missense_variant,p.Arg91Gly,ENST00000398822;MAPK1,missense_variant,p.Arg91Gly,ENST00000544786; C ENSG00000100030 ENST00000215832 Transcript missense_variant 460/11022 271/1083 91/360 R/G Cga/Gga 1 NA -1 MAPK1 HGNC 6871 protein_coding YES CCDS13795.1 ENSP00000215832 MK01_HUMAN Q1HBJ4_HUMAN,B4DHN0_HUMAN UPI000000104F NM_002745.4 tolerated(0.06) benign(0.321) 2/9 Pfam_domain:PF00069,Pfam_domain:PF07714,PROSITE_profiles:PS50011,SMART_domains:SM00220,SMART_domains:SM00219,Superfamily_domains:SSF56112 NA NA NA NA IMPACT341 22 22161984 C 0.89413823272091 TRUE TCG
61T 5 1295250 G A TERT 0 MSK-IMPACT GRCh37 1295250 + Promoter_Mutation SNP G novel NA s_DS_scb_061_P s_DS_scb_061_N G G NA NA NA NA NA NA SOMATIC NA NA NA NA NA MSK-IMPACT NA NA ENST00000310581 1135 428 707 401 397 4 TERT,upstream_gene_variant,,ENST00000310581;TERT,upstream_gene_variant,,ENST00000296820;TERT,upstream_gene_variant,,ENST00000334602;TERT,upstream_gene_variant,,ENST00000508104; A ENSG00000164362 ENST00000310581 Transcript upstream_gene_variant -/4018 -/3399 -/1132 1 88 -1 TERT HGNC 11730 protein_coding YES CCDS3861.2 ENSP00000309572 TERT_HUMAN Q9UNS6_HUMAN,Q9UNR4_HUMAN,Q9UBR6_HUMAN UPI0000031309 NM_198253.2,NM_001193376.1 NA NA NA NA IMPACT341 5 1295250 A 0.622907488986784 TRUE TCC
61T 6 152265377 G A ESR1 0 MSK-IMPACT GRCh37 152265377 + Missense_Mutation SNP G novel NA s_DS_scb_061_P s_DS_scb_061_N G G NA NA NA NA NA NA SOMATIC NA NA NA NA NA MSK-IMPACT NA NA c.830G>A p.Arg277Lys p.R277K ENST00000440973 6/10 1517 942 575 656 648 8 ESR1,missense_variant,p.Arg277Lys,ENST00000440973;ESR1,missense_variant,p.Arg277Lys,ENST00000206249;ESR1,missense_variant,p.Arg277Lys,ENST00000443427;ESR1,missense_variant,p.Arg104Lys,ENST00000427531;ESR1,missense_variant,p.Arg277Lys,ENST00000338799;ESR1,intron_variant,,ENST00000456483;ESR1,intron_variant,,ENST00000406599; A ENSG00000091831 ENST00000440973 Transcript missense_variant 1200/6466 830/1788 277/595 R/K aGg/aAg 1 NA 1 ESR1 HGNC 3467 protein_coding YES CCDS5234.1 ENSP00000405330 ESR1_HUMAN Q9UE35_HUMAN,Q9UBT1_HUMAN,Q5T5H8_HUMAN,K7R989_HUMAN,K4Q331_HUMAN,K4PXX0_HUMAN,K4PX46_HUMAN,G4XH65_HUMAN,E3WH18_HUMAN,C8CJL0_HUMAN,C7FFR5_HUMAN,B6DU67_HUMAN UPI000004A328 NM_001122742.1 tolerated(0.56) benign(0.003) 6/10 Superfamily_domains:SSF48508,Superfamily_domains:SSF57716 NA NA NA NA IMPACT341 6 152265377 A 0.379037574159525 TRUE CCT
61T 6 157099820 G A ARID1B 0 MSK-IMPACT GRCh37 157099820 + Missense_Mutation SNP G novel NA s_DS_scb_061_P s_DS_scb_061_N G G NA NA NA NA NA NA SOMATIC NA NA NA NA NA MSK-IMPACT NA NA c.757G>A p.Asp253Asn p.D253N ENST00000346085 1/20 1199 478 721 523 520 3 ARID1B,missense_variant,p.Asp253Asn,ENST00000346085;ARID1B,missense_variant,p.Asp253Asn,ENST00000367148;ARID1B,missense_variant,p.Asp195Asn,ENST00000275248;ARID1B,missense_variant,p.Asp253Asn,ENST00000350026;RP11-230C9.2,upstream_gene_variant,,ENST00000603191;RP11-230C9.4,upstream_gene_variant,,ENST00000604082;MIR4466,downstream_gene_variant,,ENST00000606121;RP11-230C9.3,downstream_gene_variant,,ENST00000604792; A ENSG00000049618 ENST00000346085 Transcript missense_variant 758/9639 757/6750 253/2249 D/N Gat/Aat 1 NA 1 ARID1B HGNC 18040 protein_coding YES CCDS55072.1 ENSP00000344546 ARI1B_HUMAN UPI000058E4B2 NM_020732.3 tolerated(0.1) unknown(0) 1/20 PROSITE_profiles:PS50315 NA NA NA NA IMPACT341 6 157099820 A 0.601334445371143 TRUE TCA