A genomic case study of desmoplastic small round cell tumor: comprehensive analysis reveals insights into potential therapeutic targets and development of a monitoring tool for a rare and aggressive disease

Table 2 Description of rare polymorphisms detected in homozygosity in the DSRCT patient. All variants were validated by sanger sequencing

Gene symbol	cDNA change	Protein change	Type	dbSNP (MAF)	Patient (Frequency/ Coverage)	Mother (Frequency/ Coverage)	Father (Frequency/ Coverage)	Polyphen	Sift	Mutation Taster
VEZT	c.1486G > A	p.V496I	Missense	rs10507051 (0.0302)	100% / 17	17.9% / 28	35.0% / 80	PD	T	DC
ISX	c.248G > A	p.R83Q	Missense	rs8140287 (0.0308)	100% / 13	37.5% / 24	50.0% / 70	PrD	T	DC
RASSF1	c.409G > T	p.A137S	Missense	rs2073498 (0.0711)	83.3% / 12	27.5% / 40	53.1% / 32	B	T	P
ADAMTS12	c.3529 T > C	p.W1177R	Missense	rs3813474 (0.0513)	100% / 51	42.0% / 88	45.0% / 40	B	T	P

MAF Minor allele frequency, PrD Probably damaging, B Benign, PD Possibly damaging, D Damaging, T Tolerated, DC Disease causing, P Polymorphism. (*) low confidence prediction

ISSN: 1479-7364