I've annotated VCF files using snpEff and looking for a tool or script to parse the VCF file and clean up the file to make it interpretable for a biologist.
1 Answer
(edit)you can filter the VCF annotations with snpsift, I've also written a VcfFilterSequenceOntology http://lindenb.github.io/jvarkit/VcfFilterSequenceOntology.html
I've written vcf2table: http://lindenb.github.io/jvarkit/VcfToTable.html It decodes VEP and SNPeff annotations:
>>chr1/10001/T (n 1)
Variant
+--------+--------------------+
| Key | Value |
+--------+--------------------+
| CHROM | chr1 |
(....)
VEP
+--------------------------+------+----------------+------------+-----------------+--------+------------------+-----------------------------------------------+-------------+---------+-----------------+----------------------+
| PolyPhen | EXON | SIFT | ALLELE_NUM | Gene | SYMBOL | Protein_position | Consequence | Amino_acids | Codons | Feature | BIOTYPE |
+--------------------------+------+----------------+------------+-----------------+--------+------------------+-----------------------------------------------+-------------+---------+-----------------+----------------------+
| probably_damaging(0.956) | 8/9 | deleterious(0) | 1 | ENSG00000102967 | DHODH | 346/395 | missense_variant | R/W | Cgg/Tgg | ENST00000219240 | protein_coding |
| | 3/4 | | 1 | ENSG00000102967 | DHODH | | non_coding_exon_variant&nc_transcript_variant | | | ENST00000571392 | retained_intron |
| | | | 1 | ENSG00000102967 | DHODH | | downstream_gene_variant | | | ENST00000572003 | retained_intron |
| | | | 1 | ENSG00000102967 | DHODH | | downstream_gene_variant | | | ENST00000573843 | retained_intron |
| | | | 1 | ENSG00000102967 | DHODH | | downstream_gene_variant | | | ENST00000573922 | processed_transcript |
| | | | 1 | ENSG00000102967 | DHODH | -/193 | intron_variant | | | ENST00000574309 | protein_coding |
| probably_damaging(0.946) | 8/9 | deleterious(0) | 1 | ENSG00000102967 | DHODH | 344/393 | missense_variant | R/W | Cgg/Tgg | ENST00000572887 | protein_coding |
+--------------------------+------+----------------+------------+-----------------+--------+------------------+-----------------------------------------------+-------------+---------+-----------------+----------------------+
Genotypes
+---------+------+-------+----+----+-----+---------+
| Sample | Type | AD | DP | GQ | GT | PL |
+---------+------+-------+----+----+-----+---------+
| M10475 | HET | 10,2 | 15 | 10 | 0/1 | 25,0,10 |
| M10478 | HET | 10,4 | 16 | 5 | 0/1 | 40,0,5 |
| M10500 | HET | 10,10 | 21 | 7 | 0/1 | 111,0,7 |
| M128215 | HET | 15,5 | 24 | 0 | 0/1 | 49,0,0 |
+---------+------+-------+----+----+-----+---------+