Table 1.

Proportion of single nucleotide variants (SNVs) that disrupt splicing across studies.

Study	Target region	Variants of interest	Variants assayed (n)	Variants affecting splicing beyond given threshold (%)
Teraoka et al.	ATM	Disease associated	62	50
Ars et al.	NF1	Disease associated	44	50
Soemedi et al.	Various	HGMD disease associated	4,964	10
Mueller et al.	SMN1 exon 7	Synonymous variants	138	23
Souček et al.	SMN1 exon 7	All SNVs	181	20
Julien et al.	FAS exon 6	All SNVs	189	60
Braun et al.	RON exon 11	All SNVs (linear regression)	1,800	43
Ke et al.	WT1 exon 11	All SNVs	141	65
Cheung et al.	Various	ExAC variants, mostly rare	27,733	3.8