Figure 2

Analysis of mutations annotated as “DM” (disease mutation) in the Human Gene Mutation Database (HGMD). (a) All variants were queried against the HGMD to identify variants classified as “DM.” The numbers of rare (<5% allele frequency) missense variants in all bins and the numbers of HGMD “DM” variants per person are depicted as a box-whisker plot with whiskers indicating the 5th and 95th percentiles and outliers shown as filled circles. Homozygous variants are counted twice. (b) The overlap between the rare missense variants and “DM” variants is depicted as a Venn diagram. (c) The maximum 1000 Genomes Project allele frequencies were determined for each variant identified in the 80 whole genomes, and histograms of allele frequencies were generated for each person. These histograms were then combined to depict the average number of variants per person within each range of allele frequencies (depicted as a bar plot with standard deviations). (d) The maximum 1000 Genomes Project allele frequencies were determined for all “DM” variants in HGMD and graphed as a histogram. The inset shows the distribution for “DM” variants with ≥3% allele frequencies.