1
2
3
4
5
6
7
8
9
10
11
12
13
14
15
16
17
18
19
20
21
22
23
24
25
26
27
28
29
|
##fileformat=VCFv4.2
##ALT=<ID=DEL,Description="">
##ALT=<ID=INS,Description="">
##ALT=<ID=INV,Description="">
##ALT=<ID=INV,Description="">
##FILTER=<ID=FILTER,Description="">
##INFO=<ID=CIEND,Number=2,Type=Integer,Description="Confidence interval around END for imprecise variants">
##INFO=<ID=CIPOS,Number=2,Type=Integer,Description="Confidence interval around POS for imprecise variants">
##INFO=<ID=CIRPOS,Number=2,Type=Integer,Description="Confidence interval around remote breakend POS for imprecise variants">
##INFO=<ID=END,Number=1,Type=Integer,Description="Stop position of the interval">
##INFO=<ID=EVENT,Number=1,Type=String,Description="ID of event associated to breakend">
##INFO=<ID=HOMLEN,Number=.,Type=Integer,Description="Length of base pair identical micro-homology at event breakpoints">
##INFO=<ID=HOMSEQ,Number=.,Type=String,Description="Sequence of base pair identical micro-homology at event breakpoints">
##INFO=<ID=IMPRECISE,Number=0,Type=Flag,Description="Imprecise structural variation">
##INFO=<ID=MATEID,Number=.,Type=String,Description="ID of mate breakends">
##INFO=<ID=SVLEN,Number=.,Type=Integer,Description="Difference in length between REF and ALT alleles">
##INFO=<ID=SVTYPE,Number=1,Type=String,Description="Type of structural variant">
##contig=<ID=chr1,length=249250621>
#CHROM POS ID REF ALT QUAL FILTER INFO
chr1 2 SNV A C . .
chr1 2 MNV AC CA . .
chr1 2 INS A AT . .
chr1 2 DEL AT A . .
chr1 2 SYMINS A <INS> . . SVTYPE=INS;SVLEN=1
chr1 2 SYMDEL A <DEL> . . SVTYPE=DEL;SVLEN=-2
chr1 2 BNDFB A A[chr1:2[ . . SVTYPE=BND;MATEID=BNDBF
chr1 2 BNDFF A A]chr1:2] . . SVTYPE=BND;MATEID=BNDFF
chr1 2 BNDBB A [chr1:2[A . . SVTYPE=BND;MATEID=BNDBB
chr1 2 BNDBF A ]chr1:2]A . . SVTYPE=BND;MATEID=BNDFB
|
