Suppl. TableS7
The driver mutation and co-morbid inherited coding variants (benign, variant of unknown significance [VOUS], or pathogenic) and non-coding variants conserved among at least 4 of 7 vertebrates (ultra-conserved). Co-occurring damaging coding findings (see below) are listed as potential modifier variants using the longest transcript for uniform numbering. For effects on overlapping transcripts see Suppl. TablesS8-13, column AL. Justifications for assertions of coding region pathogenicity incorporate the principal accepted guidelines in (Richards et al., 2015) for a simple autosomal dominant disorder with high penetrance. Variants with an allele frequency greater than 1:10,000 (the live birth incidence of HPE in the newborn nursery) were annotated by an asterix (*) interpreted as likely of minor effect. Potential modifiers were not filtered by allele frequency. However, variants with a Minor Allele Frequency >1% were omitted from the analysis. Similarly, non-coding co-morbid variants scored as >4 (see below) are also annotated as potential modifier loci.