Table 1.

Metrics obtained from the analysis of GTEx v7 datasets to observe the impact of variants prioritized as splice impacting.

Variant	Gene	Tissue	Metric type	Controls Mean (95% CI)	Cases
20-3899342-G-A	PANK2	Fibroblasts	Intron retention	0.12 (0.10–0.14)	0.32
12-88448136-G-A	CEP290	Thyroid	NRC	0.15 (0.02–0.27)	0.91
10-73567463-C-T	CDH23	Ovary	NRC	0.003 (0–0.01)	0.11
2-110922263-G-A	NPHP1	Testis	NRC*	0.51 (0.48–0.55)	0.7

Our analysis identified 4 variants in autosomal recessive genes that were present in a carrier state in individuals in GTEx v7 and had observable impacts on splicing in these individuals. Metrics were calculated from aligned RNAseq datasets from tissues with a transcript per million value > 5 for the gene of interest. Cases, individuals within the GTEx dataset carrying prioritized variant. Controls, a group of ten randomly selected individuals within the GTEx dataset that do not carry the prioritized variant.

NRC normalized read count (described in “Supporting Information”). *switch in usage of two canonical exon junctions in alternative isoforms.