SeqGene: a comprehensive software solution for mining exome- and transcriptome- sequencing data

BMC Bioinformatics

Table 5 Three novel missense somatic mutations of DNMT3A identified in 23 samples using seqgene (cov > 10)

transcript	position (hg19)	position transcript	codon number	amino acid change	ref	bl3	bm3	bl9	bm9	ex5
NM_022552	chr2:25457197	2947	897	Val- > Asp	A	A	A/T
NM_175629	chr2:25457197	3028	897	Val- > Asp	A	A	A/T
NM_153759	chr2:25457197	2237	708	Val- > Asp	A	A	A/T
NM_022552	chr2:25467449	1884	543	Gly- > Cys	C					A/C
NM_175629	chr2:25467449	1965	543	Gly- > Cys	C					A/C
NM_153759	chr2:25467449	1174	354	Gly- > Cys	C					A/C
NM_022552	chr2:25457242	2902	882	Arg- > His	C			C/T	C
NM_175629	chr2:25457242	2983	882	Arg- > His	C			C/T	C
NM_153759	chr2:25457242	2192	693	Arg- > His	C			C/T	C

ISSN: 1471-2105