Comments (3)
Don't have an example mutation where this actually caused an issue... But may find one thru PanCanAtlas
from vcf2maf.
Here are ExAC subpopulation counts and different fractions of them. Note that OTH is a tiny cohort, where 0.04% is fewer than 1 allele.
#Pop Samples 1% 5% 10% 20% 30% 40% 50%
AFR 5203 52 260 520 1041 1561 2081 2602
AMR 5789 58 289 579 1158 1737 2316 2895
EAS 4327 43 216 433 865 1298 1731 2164
FIN 3307 33 165 331 661 992 1323 1654
NFE 33370 334 1669 3337 6674 10011 13348 16685
SAS 8256 83 413 826 1651 2477 3302 4128
OTH 454 5 23 45 91 136 182 227
from vcf2maf.
FIN
and OTH
are the 2 smallest subpopulations. In FIN
with 3307 individuals (6614 alleles), a 0.04% AF cutoff requires 3 or more alleles as grounds for removal... which is fair. So only OTH
is problematic. So as a fix, I just removed OTH
as one of the subpops that are checked. The individuals in OTH
will still contribute to the global AF, so it's no biggie. This fix will go into v1.6.7
from vcf2maf.
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