Figure 3.

The ASXL1 p.E657fs mutation observed in this thymoma sample is visualized in the context of other ASXL1 mutations observed in all tumor genome sequences catalogued in TCGA. The protein sequence and functional domains are depicted on the x axis. The number of TCGA mutations is depicted on the y axis. Red circles correspond to truncating mutations. Green circles correspond to nonsynonymous mutations. Purple circles correspond to mutations that are both nonsynonymous and truncating in different gene isoforms. Circle height corresponds to the number of mutations per position, however, the E657fs indicator (black) is only meant to indicate position of this mutation. Note the clustering of TCGA truncating mutations around position 657. The Sanger sequencing validation trace of p.E657fs is also shown, demonstrating validation of p.E657fs as a heterozygous somatic mutation.