Table 2.
Category | Count | Percentage | Note |
---|---|---|---|
Sample size | N = 48 | — | “Splice_region” means that a variant is within 2 bp of a splice junction. “Splice_acceptor” means that the variant hits a splice acceptor site (defined as 2 bases before the exon start site, except for the first exon). “Splice_donor” means that the variant hits a splice donor site (defined as 2 bases after the end of the coding exon, except for the last exon). “Upstream/downstream” means that a variant overlaps with the 1-kb region upstream/downstream of the gene end site. The number of effects is larger than the number of SNPs because a variant can be annotated for 2 or more effects. |
SNP | 15 341 213 | — | |
3_prime_UTR | 172 656 | 0.46 | |
5_prime_UTR | 46 446 | 0.13 | |
Downstream | 2 488 567 | 6.70 | |
Intergenic_region | 10 032 903 | 27.02 | |
Intragenic | 794 | 0.00 | |
Intron | 10 441 311 | 28.12 | |
Missense | 103 427 | 0.28 | |
Non_coding_transcript_exon | 96 876 | 0.26 | |
Non_coding_transcript | 10 793 318 | 29.07 | |
Splice_acceptor | 384 | 0.00 | |
Splice_donor | 577 | 0.00 | |
Splice_region | 25 231 | 0.07 | |
Start_lost | 283 | 0.00 | |
Stop_gained | 1054 | 0.00 | |
Stop_lost | 224 | 0.00 | |
Stop_retained | 82 | 0.00 | |
Synonymous | 129 097 | 0.35 | |
Upstream | 2 474 202 | 6.66 | |
Exon | 327 360 | 0.88 | |
No. of effects | 37 134 791 | 100 |