All listed samples have had the raw sequencing data realigned to GRCh38 when possible. Variants using placeholder identifiers use GRCh38 coordinates. These need to be converted to GRCh37 when comparing with more common sources.
When publicly available sequencing data is lifted to GRCh38 for placement in the tree, tests are marked with an asterisk (*) behind the sample id. Samples using only Sanger evidence for placement are marked with two asterisks (**).
VARIANT indicates the mutation occurs in the combBED regions defined in Adamov et al.
VARIANT indicates the mutation is available for Sanger sequence testing at yseq.net.
VARIANT occurs in DYZ19. This region is comprised of >3,000 repeating 125bp units.
VARIANT occurs in a known Short Tandem Repeat micro-satellite.
VARIANT occurs in a known Palindromic arm.