In the strategy described above, significant variants that are located in non-coding regions, such as introns, and affect genes in the gene list would not be extracted from the original VCF files because their SO consequence would not be in said list. Therefore, we used ClinVar to compile a list of known pathogenic variants falling outside of exons or splice sites and filtered VCFs on the basis of their genomic positions in a separate interrogation. Variants were incorporated in the list if they occurred in or near a gene in the list, were classified as near gene, non-coding RNA or untranslated region, and had at least two-star evidence of a P/LP effect. This process produced only three known pathogenic variants to search for in the WGS data. Distant non-coding variants affecting gene function (e.g., enhancers) were not considered in the current study.