Circos diagram of tumor germ line sequencing metrics. This diagram shows a representation of capture-validated somatic mutations that occur with VAF >5% in the BM sample.11 The 5 wedges represent 4 groups of mutations called by the MuTect/Strelka pipeline and a group with missing values resulting from lack of buccal swab sample collection. The gene names orthogonal to the radius represent protein-changing somatic mutations color coded by the functional class of the mutation. The 5 main rings represent the different tissues and are further separated into 3 sections. The outer section represents the coverage at the position of the somatic mutation followed by the VAF, and the inner section represents the binary calling status (true/false) of the 4 germ line samples called by the MuTect/Strelka pipeline. Coverage, reference, VAFs, and predicted protein consequence (ANNOVAR software) across all resequenced variants are ordered by number of tumor-germ line pairs that call that variant. Each ring represents a sequenced tissue type, and those tumor–germ line pairs that called the plotted variant are denoted in green (gray if not called).
