SNPs affecting predicted exonic splicing enhancers (ESEs).

Note: The relative splice-site usage disagrees with expectations for the last 3 cases.
1See Figure 2. Cases marked C/D are cases where the SNP is very close to the middle of the exon.
2Bold font indicates the SNP position.
3Score calculated using ESE Finder 3.0 online tool [16].
4Averaged PLIER-summarized expression score for each homozygous genotype.
5Ancestral genotype, as inferred from the chimpanzee genome.
6SF2/ASF (IgM-BRCA1) [51].
7Cases for which an inverse correlation between splicing efficiency and probeset expression is expected based on the two isoform structures and the position of the affected splice-site, as shown in Figure 2.