Figure 2.

Distribution of case and control qualifying variants for TERT, RTEL1, and PARN from the primary and loss-of-function model analyses. Case and control variants are plotted on the canonical transcript of the corresponding gene. Frameshift (F) and nonsense (N) variants are filled in red. Missense (M) and in-frame indel (C) variants are filled in blue. Case variants are shown with red lines, and control variants are shown with blue lines. Dashed lines indicate a qualifying variant found in both case and control subjects. Variants reported below the protein line indicate canonical splice (S) variants. Known conserved domains from the Conserved Domains Database are listed below the gene names. UTR = untranslated region.