Supplementary Table S2.

The distribution and number of autosome variants gro

Frequency MIR LOF
Singleton 53,367 (0.0712%) 32,521 (0.0434%)
<=0.001 35,377 (0.0728%) 13,905 (0.0286%)
0.001-0.01 4,219 (0.0755%) 1,020 (0.0182%)
SNP
0.01-0.05 1,477 (0.0785%) 243 (0.0129%)
>0.05 4,568 (0.0789%) 474 (0.0082%)
ALL 99,008 (0.0724%) 48,163 (0.0352%)
Singleton 3,811 (0.0717%) 23,946 (0.4505%)
<=0.001 2,719 (0.0727%) 9,550 (0.2553%)
0.001-0.01 512 (0.0724%) 811 (0.1147%)
INDEL
0.01-0.05 239 (0.0857%) 181 (0.0649%)
>0.05 483 (0.0730%) 318 (0.0481%)
ALL 7,764 (0.0725%) 34,806 (0.3252%)
MIR: microRNA
LOF: Frameshift, splice acceptor, splice donor, stop gained, stop lost, start lost, initiator codon va
Moderate: Inframe-indel, splice region, missense variant
Low: synonymous variant, UTR, stop retained variant, exon loss
Other: intergenic region, intron variant, noncoding, downstream, upstream
number of autosome variants grouped by impact and frequency
Moderate Low Other
689,511 (0.9204%) 1,105,065 (1.4750%) 73,037,176 (97.4900%)
403,725 (0.8313%) 705,787 (1.4533%) 47,405,512 (97.6139%)
36,657 (0.6557%) 76,514 (1.3686%) 5,472,161 (97.8820%)
9,571 (0.5089%) 24,174 (1.2854%) 1,845,250 (98.1143%)
20,942 (0.3615%) 63,564 (1.0973%) 5,703,046 (98.4541%)
1,160,406 (0.8486%) 1,975,104 (1.4444%) 133,463,145 (97.5994%)
15,270 (0.2873%) 76,108 (1.4319%) 5,195,952 (97.7586%)
10,054 (0.2688%) 52,145 (1.3939%) 3,666,388 (98.0093%)
1,505 (0.2128%) 8,004 (1.1320%) 696,246 (98.4681%)
467 (0.1675%) 2,866 (1.0282%) 274,980 (98.6536%)
1,014 (0.1533%) 6,434 (0.9728%) 653,112 (98.7527%)
28,310 (0.2645%) 145,557 (1.3599%) 10,486,678 (97.9778%)

d, stop lost, start lost, initiator codon variant, transcript ablation

on loss
stream, upstream
 Total
74,917,640
48,564,306
5,590,571
1,880,715
5,792,594
136,745,826
5,315,087
3,740,856
707,078
278,733
661,361
10,703,115