Mercurial > repos > iuc > lumpy_sv
annotate test-data/sample.vcf @ 1:88b35d91a662 draft default tip
"planemo upload for repository https://github.com/arq5x/lumpy-sv commit 41cb10683d89fa20e122f4c60b8f5bf0e3c390d8"
author | iuc |
---|---|
date | Sat, 10 Jul 2021 07:40:44 +0000 |
parents | 477a07f387e0 |
children |
rev | line source |
---|---|
0
477a07f387e0
"planemo upload for repository https://github.com/arq5x/lumpy-sv commit cce17262b21b0964c31eb983bac5e89ae92b8ee9"
iuc
parents:
diff
changeset
|
1 ##fileformat=VCFv4.2 |
477a07f387e0
"planemo upload for repository https://github.com/arq5x/lumpy-sv commit cce17262b21b0964c31eb983bac5e89ae92b8ee9"
iuc
parents:
diff
changeset
|
2 ##source=LUMPY |
477a07f387e0
"planemo upload for repository https://github.com/arq5x/lumpy-sv commit cce17262b21b0964c31eb983bac5e89ae92b8ee9"
iuc
parents:
diff
changeset
|
3 ##INFO=<ID=SVTYPE,Number=1,Type=String,Description="Type of structural variant"> |
477a07f387e0
"planemo upload for repository https://github.com/arq5x/lumpy-sv commit cce17262b21b0964c31eb983bac5e89ae92b8ee9"
iuc
parents:
diff
changeset
|
4 ##INFO=<ID=SVLEN,Number=.,Type=Integer,Description="Difference in length between REF and ALT alleles"> |
477a07f387e0
"planemo upload for repository https://github.com/arq5x/lumpy-sv commit cce17262b21b0964c31eb983bac5e89ae92b8ee9"
iuc
parents:
diff
changeset
|
5 ##INFO=<ID=END,Number=1,Type=Integer,Description="End position of the variant described in this record"> |
477a07f387e0
"planemo upload for repository https://github.com/arq5x/lumpy-sv commit cce17262b21b0964c31eb983bac5e89ae92b8ee9"
iuc
parents:
diff
changeset
|
6 ##INFO=<ID=STRANDS,Number=.,Type=String,Description="Strand orientation of the adjacency in BEDPE format (DEL:+-, DUP:-+, INV:++/--)"> |
477a07f387e0
"planemo upload for repository https://github.com/arq5x/lumpy-sv commit cce17262b21b0964c31eb983bac5e89ae92b8ee9"
iuc
parents:
diff
changeset
|
7 ##INFO=<ID=IMPRECISE,Number=0,Type=Flag,Description="Imprecise structural variation"> |
477a07f387e0
"planemo upload for repository https://github.com/arq5x/lumpy-sv commit cce17262b21b0964c31eb983bac5e89ae92b8ee9"
iuc
parents:
diff
changeset
|
8 ##INFO=<ID=CIPOS,Number=2,Type=Integer,Description="Confidence interval around POS for imprecise variants"> |
477a07f387e0
"planemo upload for repository https://github.com/arq5x/lumpy-sv commit cce17262b21b0964c31eb983bac5e89ae92b8ee9"
iuc
parents:
diff
changeset
|
9 ##INFO=<ID=CIEND,Number=2,Type=Integer,Description="Confidence interval around END for imprecise variants"> |
477a07f387e0
"planemo upload for repository https://github.com/arq5x/lumpy-sv commit cce17262b21b0964c31eb983bac5e89ae92b8ee9"
iuc
parents:
diff
changeset
|
10 ##INFO=<ID=CIPOS95,Number=2,Type=Integer,Description="Confidence interval (95%) around POS for imprecise variants"> |
477a07f387e0
"planemo upload for repository https://github.com/arq5x/lumpy-sv commit cce17262b21b0964c31eb983bac5e89ae92b8ee9"
iuc
parents:
diff
changeset
|
11 ##INFO=<ID=CIEND95,Number=2,Type=Integer,Description="Confidence interval (95%) around END for imprecise variants"> |
477a07f387e0
"planemo upload for repository https://github.com/arq5x/lumpy-sv commit cce17262b21b0964c31eb983bac5e89ae92b8ee9"
iuc
parents:
diff
changeset
|
12 ##INFO=<ID=MATEID,Number=.,Type=String,Description="ID of mate breakends"> |
477a07f387e0
"planemo upload for repository https://github.com/arq5x/lumpy-sv commit cce17262b21b0964c31eb983bac5e89ae92b8ee9"
iuc
parents:
diff
changeset
|
13 ##INFO=<ID=EVENT,Number=1,Type=String,Description="ID of event associated to breakend"> |
477a07f387e0
"planemo upload for repository https://github.com/arq5x/lumpy-sv commit cce17262b21b0964c31eb983bac5e89ae92b8ee9"
iuc
parents:
diff
changeset
|
14 ##INFO=<ID=SECONDARY,Number=0,Type=Flag,Description="Secondary breakend in a multi-line variants"> |
477a07f387e0
"planemo upload for repository https://github.com/arq5x/lumpy-sv commit cce17262b21b0964c31eb983bac5e89ae92b8ee9"
iuc
parents:
diff
changeset
|
15 ##INFO=<ID=SU,Number=.,Type=Integer,Description="Number of pieces of evidence supporting the variant across all samples"> |
477a07f387e0
"planemo upload for repository https://github.com/arq5x/lumpy-sv commit cce17262b21b0964c31eb983bac5e89ae92b8ee9"
iuc
parents:
diff
changeset
|
16 ##INFO=<ID=PE,Number=.,Type=Integer,Description="Number of paired-end reads supporting the variant across all samples"> |
477a07f387e0
"planemo upload for repository https://github.com/arq5x/lumpy-sv commit cce17262b21b0964c31eb983bac5e89ae92b8ee9"
iuc
parents:
diff
changeset
|
17 ##INFO=<ID=SR,Number=.,Type=Integer,Description="Number of split reads supporting the variant across all samples"> |
477a07f387e0
"planemo upload for repository https://github.com/arq5x/lumpy-sv commit cce17262b21b0964c31eb983bac5e89ae92b8ee9"
iuc
parents:
diff
changeset
|
18 ##INFO=<ID=BD,Number=.,Type=Integer,Description="Amount of BED evidence supporting the variant across all samples"> |
477a07f387e0
"planemo upload for repository https://github.com/arq5x/lumpy-sv commit cce17262b21b0964c31eb983bac5e89ae92b8ee9"
iuc
parents:
diff
changeset
|
19 ##INFO=<ID=EV,Number=.,Type=String,Description="Type of LUMPY evidence contributing to the variant call"> |
477a07f387e0
"planemo upload for repository https://github.com/arq5x/lumpy-sv commit cce17262b21b0964c31eb983bac5e89ae92b8ee9"
iuc
parents:
diff
changeset
|
20 ##INFO=<ID=PRPOS,Number=.,Type=String,Description="LUMPY probability curve of the POS breakend"> |
477a07f387e0
"planemo upload for repository https://github.com/arq5x/lumpy-sv commit cce17262b21b0964c31eb983bac5e89ae92b8ee9"
iuc
parents:
diff
changeset
|
21 ##INFO=<ID=PREND,Number=.,Type=String,Description="LUMPY probability curve of the END breakend"> |
477a07f387e0
"planemo upload for repository https://github.com/arq5x/lumpy-sv commit cce17262b21b0964c31eb983bac5e89ae92b8ee9"
iuc
parents:
diff
changeset
|
22 ##ALT=<ID=DEL,Description="Deletion"> |
477a07f387e0
"planemo upload for repository https://github.com/arq5x/lumpy-sv commit cce17262b21b0964c31eb983bac5e89ae92b8ee9"
iuc
parents:
diff
changeset
|
23 ##ALT=<ID=DUP,Description="Duplication"> |
477a07f387e0
"planemo upload for repository https://github.com/arq5x/lumpy-sv commit cce17262b21b0964c31eb983bac5e89ae92b8ee9"
iuc
parents:
diff
changeset
|
24 ##ALT=<ID=INV,Description="Inversion"> |
477a07f387e0
"planemo upload for repository https://github.com/arq5x/lumpy-sv commit cce17262b21b0964c31eb983bac5e89ae92b8ee9"
iuc
parents:
diff
changeset
|
25 ##ALT=<ID=DUP:TANDEM,Description="Tandem duplication"> |
477a07f387e0
"planemo upload for repository https://github.com/arq5x/lumpy-sv commit cce17262b21b0964c31eb983bac5e89ae92b8ee9"
iuc
parents:
diff
changeset
|
26 ##ALT=<ID=INS,Description="Insertion of novel sequence"> |
477a07f387e0
"planemo upload for repository https://github.com/arq5x/lumpy-sv commit cce17262b21b0964c31eb983bac5e89ae92b8ee9"
iuc
parents:
diff
changeset
|
27 ##ALT=<ID=CNV,Description="Copy number variable region"> |
477a07f387e0
"planemo upload for repository https://github.com/arq5x/lumpy-sv commit cce17262b21b0964c31eb983bac5e89ae92b8ee9"
iuc
parents:
diff
changeset
|
28 ##FORMAT=<ID=GT,Number=1,Type=String,Description="Genotype"> |
477a07f387e0
"planemo upload for repository https://github.com/arq5x/lumpy-sv commit cce17262b21b0964c31eb983bac5e89ae92b8ee9"
iuc
parents:
diff
changeset
|
29 ##FORMAT=<ID=SU,Number=1,Type=Integer,Description="Number of pieces of evidence supporting the variant"> |
477a07f387e0
"planemo upload for repository https://github.com/arq5x/lumpy-sv commit cce17262b21b0964c31eb983bac5e89ae92b8ee9"
iuc
parents:
diff
changeset
|
30 ##FORMAT=<ID=PE,Number=1,Type=Integer,Description="Number of paired-end reads supporting the variant"> |
477a07f387e0
"planemo upload for repository https://github.com/arq5x/lumpy-sv commit cce17262b21b0964c31eb983bac5e89ae92b8ee9"
iuc
parents:
diff
changeset
|
31 ##FORMAT=<ID=SR,Number=1,Type=Integer,Description="Number of split reads supporting the variant"> |
477a07f387e0
"planemo upload for repository https://github.com/arq5x/lumpy-sv commit cce17262b21b0964c31eb983bac5e89ae92b8ee9"
iuc
parents:
diff
changeset
|
32 ##FORMAT=<ID=BD,Number=1,Type=Integer,Description="Amount of BED evidence supporting the variant"> |
477a07f387e0
"planemo upload for repository https://github.com/arq5x/lumpy-sv commit cce17262b21b0964c31eb983bac5e89ae92b8ee9"
iuc
parents:
diff
changeset
|
33 #CHROM POS ID REF ALT QUAL FILTER INFO FORMAT sample1 |
477a07f387e0
"planemo upload for repository https://github.com/arq5x/lumpy-sv commit cce17262b21b0964c31eb983bac5e89ae92b8ee9"
iuc
parents:
diff
changeset
|
34 chr8 245202 1 N <DEL> . . SVTYPE=DEL;STRANDS=+-:3;SVLEN=-229;END=245431;CIPOS=-10,64;CIEND=-51,9;CIPOS95=-1,33;CIEND95=-22,3;IMPRECISE;SU=3;PE=3 GT:SU:PE ./.:3:3 |
477a07f387e0
"planemo upload for repository https://github.com/arq5x/lumpy-sv commit cce17262b21b0964c31eb983bac5e89ae92b8ee9"
iuc
parents:
diff
changeset
|
35 chr8 246846 2 N <DEL> . . SVTYPE=DEL;STRANDS=+-:2;SVLEN=-176;END=247022;CIPOS=-10,186;CIEND=-159,21;CIPOS95=0,137;CIEND95=-95,13;IMPRECISE;SU=2;PE=2 GT:SU:PE ./.:2:2 |