Results of next generation gene sequencing after imatinib treatment. The oncogenic mutation (PRKG2/PDGFRA translocation) has disappeared.
A. Annotated variants B. Known variants SNV: |
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Gene | RefseqID | Exon | DNAchange | AAchange | Func | ChrPos | Read depth | VAF | COSMIC | dbSNP |
MKI67 | NM_002417 | exon14 | c.9670C>T | p.R3224W | nonsynonmous SNV | chr10:129899557 | 2254 | 41.33% | COSM916078 | rs754802357 |
ZNF24 | NM_006965 | exon3 | c.427C>T | p.L143F | nonsynonmous SNV | chr18:32919934 | 1447 | 44.3% | COSM5854150 | rs148053646 |
INDEL: | ||||||||||
Gene | RefseqID | Exon | DNAchange | AAchange | Func | ChrPos | Read depth | VAF | COSMIC | dbSNP |
MKI67 | NM_002417 | exon13 | c.4991_4992del | p.T1664fs | frameshift insertion | chr10:129905112 | 3486 | 2.35% | COSM916119 | rs145960091 |
C. Novel variants SNV: |
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Gene | RefseqID | Exon | DNAchange | AAchange | Func | ChrPos | Read depth | VAF | COSMIC | dbSNP |
SDHC | NM_003001 | exon2 | c.25G>A | p.V9I | nonsynonmous SNV | chr1:161293408 | 633 | 52.45% | rs774768866 | |
ERBB4 | NM_005235 | exon24 | c.2935C>G | p.R979G | nonsynonmous SNV | chr2:212286761 | 1620 | 44.88% | rs574197848 | |
BARD1 | NM_000465 | exon4 | c.722C>G | p.S241C | nonsynonmous SNV | chr2:215645876 | 2889 | 46.49% | rs3738885 | |
FGFR4 | NM_002011 | exon13 | c.1817G>A | p.R606Q | nonsynonmous SNV | chr5:176522720 | 243 | 48.56% | rs757092386 | |
HIST1H2BJ | NM_021058 | exon1 | c.215A>G | p.E72G | nonsynonmous SNV | chr6:27100315 | 2154 | 50.0% | NA | |
ABL1 | NM_007313 | exon10 | c.1601T>C | p.V534A | nonsynonmous SNV | chr9:133755917 | 718 | 42.9% | rs776483252 | |
NUP98 | NM_016320 | exon11 | c.1192A>G | p.S398G | nonsynonmous SNV | chr11:3774621 | 1283 | 45.91% | rs144302699 | |
PTPRO | NM_030667 | exon17 | c.2648A>T | p.Y895F | nonsynonmous SNV | chr12:15713183 | 1521 | 48.06% | rs759525747 | |
FANCA | NM_000135 | exon42 | c.4232C>T | p.P1411L | nonsynonmous SNV | chr16:89805318 | 1747 | 46.48% | rs201494304 | |
GTSE1 | NM_016426 | exon9 | c.1688G>C | p.R563T | nonsynonmous SNV | chr22:46722515 | 1415 | 46.08% | rs760482340 | |
RUNX1 | NM_001754 | exon9 | c.1270T>G | p.S424A | nonsynonmous SNV | chr21:36164605 | 225 | 25.33% | NA |