Fig. 4: Summary of PBRM1 alterations identified in ten skull-base chordoma patients.

a Lollipop plots depict nonsynonymous mutations found in PBRM1 (five patients), showing identified mutations relative to a schematic representation of the gene. Each lollipop denotes a unique mutation and the length of the line reflects the number of samples with the mutation. The colored boxes are functional domains of the protein. The splicing mutation, which is located in a noncoding region, is shown with a broken line. b Structural variants (SVs) found in PBRM1 (five patients) detected by Meerkat. Different SV types are indicated by different color schemes.