"Figure 1. Boxplots showing the score distributions for CADD (top), FitCons (middle), and GERP (bottom), for pathogenic SNVs (red) vs. benign, high-frequency SNVs (blue) chosen to match one-to-one the genic consequence profile of the pathogenic variants. Score distributions for all SNVs are plotted on the left, while the subset of SNVs that are not missense, canonical splice, or nonsense (i.e., ""non-protein-altering"") are on the right."