Mercurial > repos > iuc > sniffles
comparison test-data/expected_output2.vcf @ 1:3f6f028f418f draft
planemo upload for repository https://github.com/galaxyproject/tools-iuc commit d2d7bf4fbdd781458833134cee92c46ff6a4f603
author | iuc |
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date | Tue, 24 Sep 2024 19:30:03 +0000 |
parents | 93c4b04a0769 |
children | 09f5c6f3088a |
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0:93c4b04a0769 | 1:3f6f028f418f |
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1 ##fileformat=VCFv4.1 | 1 ##fileformat=VCFv4.2 |
2 ##source=Sniffles | 2 ##source=Sniffles2_2.4 |
3 ##fileDate=20200901:51:36 AMef_minus | 3 ##command="/home/ross/miniconda3/envs/__sniffles@2.4/bin/sniffles -t 1 -i input.bam -v /tmp/tmpxu4n4sep/job_working_directory/000/4/outputs/dataset_5ee6e57f-c129-4b42-81b4-52428800dbe4.dat --minsupport auto --max-splits-kb 0.1 --minsvlen 50 --mapq 0 --min-alignment-length 100 --cluster-binsize 100 --cluster-r 2.5 --allow-overwrite" |
4 ##fileDate="2024/09/14 14:15:39" | |
4 ##contig=<ID=1,length=249250621> | 5 ##contig=<ID=1,length=249250621> |
5 ##contig=<ID=2,length=243199373> | 6 ##contig=<ID=2,length=243199373> |
6 ##contig=<ID=3,length=198022430> | 7 ##contig=<ID=3,length=198022430> |
7 ##contig=<ID=4,length=191154276> | 8 ##contig=<ID=4,length=191154276> |
8 ##contig=<ID=5,length=180915260> | 9 ##contig=<ID=5,length=180915260> |
85 ##contig=<ID=GL000194.1,length=191469> | 86 ##contig=<ID=GL000194.1,length=191469> |
86 ##contig=<ID=GL000225.1,length=211173> | 87 ##contig=<ID=GL000225.1,length=211173> |
87 ##contig=<ID=GL000192.1,length=547496> | 88 ##contig=<ID=GL000192.1,length=547496> |
88 ##contig=<ID=NC_007605,length=171823> | 89 ##contig=<ID=NC_007605,length=171823> |
89 ##contig=<ID=hs37d5,length=35477943> | 90 ##contig=<ID=hs37d5,length=35477943> |
91 ##ALT=<ID=INS,Description="Insertion"> | |
90 ##ALT=<ID=DEL,Description="Deletion"> | 92 ##ALT=<ID=DEL,Description="Deletion"> |
91 ##ALT=<ID=DUP,Description="Duplication"> | 93 ##ALT=<ID=DUP,Description="Duplication"> |
92 ##ALT=<ID=INV,Description="Inversion"> | 94 ##ALT=<ID=INV,Description="Inversion"> |
93 ##ALT=<ID=INVDUP,Description="InvertedDUP with unknown boundaries"> | 95 ##ALT=<ID=BND,Description="Breakend; Translocation"> |
94 ##ALT=<ID=TRA,Description="Translocation"> | |
95 ##ALT=<ID=INS,Description="Insertion"> | |
96 ##FILTER=<ID=UNRESOLVED,Description="An insertion that is longer than the read and thus we cannot predict the full size."> | |
97 ##INFO=<ID=CHR2,Number=1,Type=String,Description="Chromosome for END coordinate in case of a translocation"> | |
98 ##INFO=<ID=END,Number=1,Type=Integer,Description="End position of the structural variant"> | |
99 ##INFO=<ID=MAPQ,Number=1,Type=Integer,Description="Median mapping quality of paired-ends"> | |
100 ##INFO=<ID=RE,Number=1,Type=Integer,Description="read support"> | |
101 ##INFO=<ID=IMPRECISE,Number=0,Type=Flag,Description="Imprecise structural variation"> | |
102 ##INFO=<ID=PRECISE,Number=0,Type=Flag,Description="Precise structural variation"> | |
103 ##INFO=<ID=SVLEN,Number=1,Type=Integer,Description="Length of the SV"> | |
104 ##INFO=<ID=SVMETHOD,Number=1,Type=String,Description="Type of approach used to detect SV"> | |
105 ##INFO=<ID=SVTYPE,Number=1,Type=String,Description="Type of structural variant"> | |
106 ##INFO=<ID=RNAMES,Number=.,Type=String,Description="Names of reads supporting SVs (comma separated)"> | |
107 ##INFO=<ID=SEQ,Number=1,Type=String,Description="Extracted sequence from the best representative read."> | |
108 ##INFO=<ID=STRANDS2,Number=4,Type=Integer,Description="alt reads first + ,alt reads first -,alt reads second + ,alt reads second -."> | |
109 ##INFO=<ID=REF_strand,Number=.,Type=Integer,Description="plus strand ref, minus strand ref."> | |
110 ##INFO=<ID=Strandbias_pval,Number=A,Type=Float,Description="P-value for fisher exact test for strand bias."> | |
111 ##INFO=<ID=STD_quant_start,Number=A,Type=Float,Description="STD of the start breakpoints across the reads."> | |
112 ##INFO=<ID=STD_quant_stop,Number=A,Type=Float,Description="STD of the stop breakpoints across the reads."> | |
113 ##INFO=<ID=Kurtosis_quant_start,Number=A,Type=Float,Description="Kurtosis value of the start breakpoints across the reads."> | |
114 ##INFO=<ID=Kurtosis_quant_stop,Number=A,Type=Float,Description="Kurtosis value of the stop breakpoints across the reads."> | |
115 ##INFO=<ID=SUPTYPE,Number=.,Type=String,Description="Type by which the variant is supported.(SR,AL,NR)"> | |
116 ##INFO=<ID=STRANDS,Number=A,Type=String,Description="Strand orientation of the adjacency in BEDPE format (DEL:+-, DUP:-+, INV:++/--)"> | |
117 ##INFO=<ID=AF,Number=A,Type=Float,Description="Allele Frequency."> | |
118 ##INFO=<ID=ZMW,Number=A,Type=Integer,Description="Number of ZMWs (Pacbio) supporting SV."> | |
119 ##FORMAT=<ID=GT,Number=1,Type=String,Description="Genotype"> | 96 ##FORMAT=<ID=GT,Number=1,Type=String,Description="Genotype"> |
120 ##FORMAT=<ID=DR,Number=1,Type=Integer,Description="# high-quality reference reads"> | 97 ##FORMAT=<ID=GQ,Number=1,Type=Integer,Description="Genotype quality"> |
121 ##FORMAT=<ID=DV,Number=1,Type=Integer,Description="# high-quality variant reads"> | 98 ##FORMAT=<ID=DR,Number=1,Type=Integer,Description="Number of reference reads"> |
122 #CHROM POS ID REF ALT QUAL FILTER INFO FORMAT input.bam | 99 ##FORMAT=<ID=DV,Number=1,Type=Integer,Description="Number of variant reads"> |
123 21 21492143 0 AAAATATGTTTTAAATTGTTGATGATTTCAAATATTACAGGAATAGAAACTTTAACTTAACACAGAATGATTATCTGGCTTCCTTCTGTAAAATATCTTAAAGGTTAATGTGGATTTGAATTGCACAACATTCCAAATGCTTCTCCCCCTTTAAAAAGAATAGTCTTATCTTTTAAAAAGAATACTCATATCTTTTATTTTTCTTATGCAAGAGCAAAAATAAGGAAAAAATATATTATTCAGGAGAATCATGGCAACAATTTAAGGAAGACAAAACCAGTCTTTAGCAACCAGTATACATATATATCATCTTTTTTTCTGCTTTAGGGTAGGTTGCTTCTATCACCAACCTGTTCCAAATCCTCCTCTTACATGCACCATTAAAACATACTCTTTCAAAAACGAGGTGATAAAATCACAAATATCAATCTATCGTTCAGAAGAAGGTACCTTTATTTTACCTTAAAGGAATTTGATATATAATGGAGAAAAGAAAATTACTTTCT N . PASS PRECISE;SVMETHOD=Snifflesv1.0.12;CHR2=21;END=21492649;STD_quant_start=0.000000;STD_quant_stop=0.000000;Kurtosis_quant_start=0.572582;Kurtosis_quant_stop=1.417662;SVTYPE=DEL;RNAMES=21_21470395_-,21_21478921_-,21_21480008_-,21_21480363_-,21_21481423_-,21_21481887_+,21_21482167_+,21_21482571_-,21_21483235_+,21_21484045_+,21_21484064_-,21_21484222_+,21_21484629_-,21_21485143_+,21_21485316_+,21_21486018_+,21_21486410_+,21_21486549_+,21_21486783_-,21_21487049_+,21_21487332_-,21_21487543_-,21_21487743_+,21_21487803_-,21_21487987_-,21_21488230_-,21_21488258_-,21_21488405_+,21_21488511_-,21_21488850_-,21_21489305_+,21_21489335_-,21_21489385_-,21_21489559_-,21_21489628_+,21_21490045_+,21_21490154_+,21_21490154_-,21_21490705_+,21_21491059_-,21_21491140_-,21_21491170_+,21_21491195_-,21_21491512_-,21_21491645_-,21_21491660_+,21_21491808_+,21_21491999_+;SUPTYPE=AL,SR;SVLEN=-506;STRANDS=+-;STRANDS2=22,26,22,26;RE=48;REF_strand=19,24;Strandbias_pval=1;AF=0.527473 GT:DR:DV 0/1:43:48 | 100 ##FORMAT=<ID=PS,Number=1,Type=Integer,Description="Phase-block, zero if none or not phased"> |
101 ##FORMAT=<ID=ID,Number=1,Type=String,Description="Individual sample SV ID for multi-sample output"> | |
102 ##FILTER=<ID=PASS,Description="All filters passed"> | |
103 ##FILTER=<ID=GT,Description="Genotype filter"> | |
104 ##FILTER=<ID=SUPPORT_MIN,Description="Minimum read support filter"> | |
105 ##FILTER=<ID=STDEV_POS,Description="SV Breakpoint standard deviation filter"> | |
106 ##FILTER=<ID=STDEV_LEN,Description="SV length standard deviation filter"> | |
107 ##FILTER=<ID=COV_MIN,Description="Minimum coverage filter"> | |
108 ##FILTER=<ID=COV_MIN_GT,Description="Minimum coverage filter (missing genotype)"> | |
109 ##FILTER=<ID=COV_CHANGE,Description="Coverage change filter"> | |
110 ##FILTER=<ID=COV_CHANGE_INS,Description="Coverage change filter for INS"> | |
111 ##FILTER=<ID=COV_CHANGE_FRAC_US,Description="Coverage fractional change filter: upstream-start"> | |
112 ##FILTER=<ID=COV_CHANGE_FRAC_SC,Description="Coverage fractional change filter: start-center"> | |
113 ##FILTER=<ID=COV_CHANGE_FRAC_CE,Description="Coverage fractional change filter: center-end"> | |
114 ##FILTER=<ID=COV_CHANGE_FRAC_ED,Description="Coverage fractional change filter: end-downstream"> | |
115 ##FILTER=<ID=MOSAIC_AF,Description="Mosaic variant allele frequency filter"> | |
116 ##FILTER=<ID=NOT_MOSAIC_AF,Description="Variant allele frequency filter for non-mosaic"> | |
117 ##FILTER=<ID=ALN_NM,Description="Length adjusted mismatch filter"> | |
118 ##FILTER=<ID=STRAND_BND,Description="Strand support filter for BNDs"> | |
119 ##FILTER=<ID=STRAND,Description="Strand support filter for germline SVs"> | |
120 ##FILTER=<ID=STRAND_MOSAIC,Description="Strand support filter for mosaic SVs"> | |
121 ##FILTER=<ID=SVLEN_MIN,Description="SV length filter"> | |
122 ##FILTER=<ID=SVLEN_MIN_MOSAIC,Description="SV length filter for mosaic SVs"> | |
123 ##INFO=<ID=PRECISE,Number=0,Type=Flag,Description="Structural variation with precise breakpoints"> | |
124 ##INFO=<ID=IMPRECISE,Number=0,Type=Flag,Description="Structural variation with imprecise breakpoints"> | |
125 ##INFO=<ID=MOSAIC,Number=0,Type=Flag,Description="Structural variation classified as putative mosaic"> | |
126 ##INFO=<ID=SVLEN,Number=1,Type=Integer,Description="Length of structural variation"> | |
127 ##INFO=<ID=SVTYPE,Number=1,Type=String,Description="Type of structural variation"> | |
128 ##INFO=<ID=CHR2,Number=1,Type=String,Description="Mate chromsome for BND SVs"> | |
129 ##INFO=<ID=SUPPORT,Number=1,Type=Integer,Description="Number of reads supporting the structural variation"> | |
130 ##INFO=<ID=SUPPORT_INLINE,Number=1,Type=Integer,Description="Number of reads supporting an INS/DEL SV (non-split events only)"> | |
131 ##INFO=<ID=SUPPORT_LONG,Number=1,Type=Integer,Description="Number of soft-clipped reads putatively supporting the long insertion SV"> | |
132 ##INFO=<ID=END,Number=1,Type=Integer,Description="End position of structural variation"> | |
133 ##INFO=<ID=STDEV_POS,Number=1,Type=Float,Description="Standard deviation of structural variation start position"> | |
134 ##INFO=<ID=STDEV_LEN,Number=1,Type=Float,Description="Standard deviation of structural variation length"> | |
135 ##INFO=<ID=COVERAGE,Number=.,Type=Float,Description="Coverages near upstream, start, center, end, downstream of structural variation"> | |
136 ##INFO=<ID=STRAND,Number=1,Type=String,Description="Strands of supporting reads for structural variant"> | |
137 ##INFO=<ID=AC,Number=.,Type=Integer,Description="Allele count, summed up over all samples"> | |
138 ##INFO=<ID=SUPP_VEC,Number=1,Type=String,Description="List of read support for all samples"> | |
139 ##INFO=<ID=CONSENSUS_SUPPORT,Number=1,Type=Integer,Description="Number of reads that support the generated insertion (INS) consensus sequence"> | |
140 ##INFO=<ID=RNAMES,Number=.,Type=String,Description="Names of supporting reads (if enabled with --output-rnames)"> | |
141 ##INFO=<ID=AF,Number=1,Type=Float,Description="Allele Frequency"> | |
142 ##INFO=<ID=NM,Number=.,Type=Float,Description="Mean number of query alignment length adjusted mismatches of supporting reads"> | |
143 ##INFO=<ID=PHASE,Number=.,Type=String,Description="Phasing information derived from supporting reads, represented as list of: HAPLOTYPE,PHASESET,HAPLOTYPE_SUPPORT,PHASESET_SUPPORT,HAPLOTYPE_FILTER,PHASESET_FILTER"> | |
144 #CHROM POS ID REF ALT QUAL FILTER INFO FORMAT SAMPLE | |
145 21 21492142 Sniffles2.DEL.0S14 N <DEL> 52 PASS PRECISE;SVTYPE=DEL;SVLEN=-506;END=21492648;SUPPORT=48;COVERAGE=46,43,43,43,48;STRAND=+-;AF=1.000;STDEV_LEN=0.509;STDEV_POS=1.404 GT:GQ:DR:DV 1/1:60:0:48 |