官方使用说明：http://resources.qiagenbioinformatics.com/tech-notes/HGMD_Tech_Note.pdf
但是我们需要转换一下，使ANNOVAR能够支持vcf批量注释，转换perl脚本如下：
perl ./prepare_hgmd.pl HGMD_PRO_2016.4_hg19.vcf hg19_HGMD_PRO_2016.4.txt
my ($dbfile) = $ARGV[0];
my ($outfile) = $ARGV[1];
open (FH, "perl /share/work/biosoft/annovar/2018Apr16/annovar/convert2annovar.pl -format vcf4 -include $dbfile |") or die "Error: cannot read from dbfile $dbfile: $!\n";
if ($outfile) {
open (OUT, ">$outfile") or die "Error: cannot write to output file: $!\n";
print OUT "#Chr\tStart\tEnd\tRef\tAlt\tHGMD\n";
}
while (<FH>) {
m/^#/ and next;
s/[\r\n]+$//;
my @field = split(/\t/, $_);
my$HGMD="HGMDID=$field[7];";
my$info="$HGMD$field[12]";
#$info=~ s/;/\\x3b/g;
#$info =~ s/,/\\x2c/g;
#$info=~ s/=/\\x3d/g;
print OUT join ("\t", @field[0..4], $info), "\n";
}
close OUT;
