Figure 4.

WES analysis detected significant somatic alterations in commonly mutated genes. WES analysis of the most significantly mutated (pathogenic and likely pathogenic) genes (n=46) ranked by the frequency of all detected (A) SNV/indel and (B) CNV alterations found in the gene among all cysts (n=65). Only genes with three or more SNV/indel and six or more CNV, respectively, are presented. Segments with a log2 ratio (LogR) between renal cyst and PBL (constitutional) read count >0.6 were designated as gains and segments with a log2 value <−0.6 were categorized as losses. Results are grouped by cyst and by patient. Gene data are displayed by patient, indicated by the colored boxes at the bottom of each figure (patients BS9001424, PJ9001456, DR9001565, CDS001574, BJA001578, CMJ001593, RP9001591, JS9001595, and BH9002280).