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. 2023 Dec 29;23:638–647. doi: 10.1016/j.csbj.2023.12.036

Table 4.

List of genetic variants detected by Off-flow and BWA string search.

Cell line ID Locus (hg19) Gene Variant type Effect
HNDS0068-01 #B CC3 Chr20:62071011 KCNQ2 SNP synonymous
HNDS0078-01 #D CC8 Chr20:62073825 KCNQ2 SNP synonymous
Chr20:62073828 KCNQ2 SNP Synonymous
Chr20:62073873-62073875 KCNQ2 MNP Nonframeshift substitution
HNDS0078-01 #D CC18 Chr20:62073825 KCNQ2 SNP synonymous
Chr20:62073828 KCNQ2 SNP synonymous
HNDS0072-01 #C CC80 Chr20:62071055 KCNQ2 SNP synonymous
Chr20:62071037 KCNQ2 insertion Frameshift insertion
HNDS0072-01 #C CC20 Chr20:62071055 KCNQ2 SNP synonymous
31 CC-het Chr9:80412493 GNAQ SNP nonsynonymous
31 CC-hom Chr9:80412493 GNAQ SNP nonsynonymous
1-1134-003_CC10 Chr1:155451881 ASH1L SNP synonymous
Chr1:155451898 ASH1L SNP synonymous
Chr1:155451904 ASH1L SNP synonymous
1-1217-003_CC37 Chr1:155447750 ASH1L SNP synonymous
Chr1:155447753 ASH1L SNP synonymous
Chr1:155447771 ASH1L SNP synonymous
1-1006-003_CC9 Chr1:155450705 ASH1L SNP synonymous
Chr1:155450708 ASH1L SNP synonymous
Chr1:155450723 ASH1L SNP synonymous