Fig. 4

Examples of alternate alleles. a and b Alignment of the alternate alleles and their flanking sequences with hg38 and other assemblies. The blue lines in the top represent the gene annotations in hg38. The yellow segments represent the NRS. The gray block represents alignments that share ≥95% identity, while the green block represents alignments that share < 90% identity. For each of the alignments, the reference sequence from hg38 is shown at the top following by the sequence where the NRS is derived from and sequences from two additional genomes. c and d RNA-seq reads mapping of the NRS shows expression potential. e and f Expression of the alternate alleles in nine tissues. Three replicates were used for each tissue. The expression level was measured using CPM (reads count per million of total mapped reads)