Table 3.

Variant table

Gene	Chromosome	HGVS DNA reference	HGVS protein reference	Variant type	Predicted effect (substitution, deletion, etc.)	dbSNP/dbVar ID	Genotype (heterozygous/homozygous)	ClinVar ID (optional)	Parent of origin (optional)	Observed effect (if shown to be different from predicted effect) (optional)	Comments (optional)
ETS1	11	c.1044_1049 delCAAGGA insTT	p.Lys349SerfsX2	Loss of function	Del/ins	PCGC ID 1-01334	Het		De novo		This insertion/deletion causes a premature termination that likely results in a loss of function of that copy of the gene.