annotate test-data/snpeff.vcf @ 4:429a6b4df5e5
Restrict to info items that are key=value pairs
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Jim Johnson <jj@umn.edu> |
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Wed, 24 Apr 2013 08:00:04 -0500 |
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cdbdac66d6b5 |
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1 ##SnpEffVersion="SnpEff 3.1k (build 2012-12-17), by Pablo Cingolani"
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2 ##SnpEffCmd="SnpEff -i vcf -o vcf -upDownStreamLen 0 -no downstream,intergenic,intron,upstream,utr -stats /galaxy/PRODUCTION/database/files/000/246/dataset_246290.dat GRCh37.66 /galaxy/PRODUCTION/database/files/000/246/dataset_246288.dat "
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3 ##INFO=<ID=EFF,Number=.,Type=String,Description="Predicted effects for this variant.Format: 'Effect ( Effect_Impact | Functional_Class | Codon_Change | Amino_Acid_change| Amino_Acid_length | Gene_Name | Gene_BioType | Coding | Transcript | Exon [ | ERRORS | WARNINGS ] )' ">
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4 chr1 46871931 . GC G . PASS SAF=0.333333;DP=6;EFF=EXON(MODIFIER|||||FAAH|processed_transcript|CODING|ENST00000489366|2),EXON(MODIFIER|||||FAAH|processed_transcript|CODING|ENST00000493735|6),FRAME_SHIFT(HIGH||-|-281|579|FAAH|protein_coding|CODING|ENST00000243167|7)
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5 chr1 54291558 . G GA . PASS SAF=0.333333;DP=12;EFF=EXON(MODIFIER|||||TMEM48|processed_transcript|CODING|ENST00000480952|4),FRAME_SHIFT(HIGH||-/T|-169?|542|TMEM48|protein_coding|CODING|ENST00000540001|5),FRAME_SHIFT(HIGH||-/T|-169?|557|TMEM48|protein_coding|CODING|ENST00000360494|5),FRAME_SHIFT(HIGH||-/T|-169?|674|TMEM48|protein_coding|CODING|ENST00000371429|5),FRAME_SHIFT(HIGH||-/T|-54?|559|TMEM48|protein_coding|CODING|ENST00000234725|4)
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6 chr1 109461327 . G A,GA . PASS SAF=0.333333,SAF=0.333333;DP=6;EFF=FRAME_SHIFT(HIGH||-/A|-453?|684|GPSM2|protein_coding|CODING|ENST00000264126|12),FRAME_SHIFT(HIGH||-/A|-453?|684|GPSM2|protein_coding|CODING|ENST00000406462|13),SYNONYMOUS_CODING(LOW|SILENT|ggG/ggA|G452|684|GPSM2|protein_coding|CODING|ENST00000264126|),SYNONYMOUS_CODING(LOW|SILENT|ggG/ggA|G452|684|GPSM2|protein_coding|CODING|ENST00000406462|)
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7
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