For a deeper functional analysis of OMIM genes as potential novel CPGs, we focused on phenylalanine hydroxylase (PAH; assigned to Cluster 2, ‘Tissue specific strong pLOF tolerant gene’) as it exhibited the highest frequency of pathogenic variants (PTVs and ClinVar pathogenic variants) among the 109 genes in the pan-cancer analysis (1.82%; 48 carriers out of 2,642 PCAWG cancer patients; Additional file 1: Table S2). The gene discussed is PAH; the disease is cancer.