# HG changeset patch # User Jim Johnson # Date 1414062385 18000 # Node ID 1739678def32a1012b546f9a03d77c5fc98a68d6 # Parent 49b5bd3dc316811e58d78e36fe2d1f06297cf8c6 Add vcfCheck and test cases diff -r 49b5bd3dc316 -r 1739678def32 snpSift_vcfCheck.xml --- /dev/null Thu Jan 01 00:00:00 1970 +0000 +++ b/snpSift_vcfCheck.xml Thu Oct 23 06:06:25 2014 -0500 @@ -0,0 +1,39 @@ + + basic checks for Vcf specification compliance + + + snpEff_macros.xml + + + java -Xmx2G -jar \$SNPEFF_JAR_PATH/SnpSift.jar vcfCheck $input > $output + + + + + + + + + + + + + + + + + + + + +Perform some basic check ups on VCF files to spot common problems. + +SnpSift vcfCheck checks for some common problems where VCF files are not following the specification. Given that many common VCF problems cause analysis tools and pipelines to behave unexpectedly, this command is intended as a simple debugging tool. + +@EXTERNAL_DOCUMENTATION@ + http://snpeff.sourceforge.net/SnpSift.html#vcfCheck + +@CITATION_SECTION@ + + + diff -r 49b5bd3dc316 -r 1739678def32 test-data/test_bad.vcf --- /dev/null Thu Jan 01 00:00:00 1970 +0000 +++ b/test-data/test_bad.vcf Thu Oct 23 06:06:25 2014 -0500 @@ -0,0 +1,11 @@ +##fileformat=VCFv4.1 +##samtoolsVersion=0.1.18 (r982:295) +##INFO= +##SnpEffVersion="3.5 (build 2014-02-12), by Pablo Cingolani" +##SnpEffCmd="SnpEff -i vcf -o vcf -upDownStreamLen 5000 -spliceSiteSize 1 -stats /Users/jj/gxt/gxt/database/files/004/dataset_4998.dat GRCh37.71 /Users/jj/gxt/gxt/database/files/004/dataset_4996.dat " +##INFO= +#CHROM POS ID REF ALT QUAL FILTER INFO +chr4 100239319 rs1229984 T C 94.3 . DP=29;EFF=EXON(MODIFIER|||||ADH1B|processed_transcript|CODING|ENST00000504498|3|1),EXON(MODIFIER|||||ADH1B|retained_intron|CODING|ENST00000515694|3|1),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cAc/cGc|H48R|375|ADH1B|protein_coding|CODING|ENST00000305046|3|1),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cAc/cGc|H8R|335|ADH1B|protein_coding|CODING|ENST00000394887|3|1),UTR_3_PRIME(MODIFIER||2729|||ADH1B|nonsense_mediated_decay|CODING|ENST00000506651|4|1) +chr12 32491626 rs1471909 G A 124.0 . DP=22;EFF=DOWNSTREAM(MODIFIER||532|||BICD1|retained_intron|CODING|ENST00000552160||1),INTRON(MODIFIER||||835|BICD1|protein_coding|CODING|ENST00000548411|7|1),INTRON(MODIFIER||||975|BICD1|protein_coding|CODING|ENST00000281474|7|1),INTRON(MODIFIER|||||BICD1|nonsense_mediated_decay|CODING|ENST00000395758|7|1),INTRON(MODIFIER|||||BICD1|retained_intron|CODING|ENST00000552226|1|1) +chr12 3249626 rs1471909 G A 124.0 . DP=22;EFF=DOWNSTREAM(MODIFIER||532|||BICD1|retained_intron|CODING|ENST00000552160||1),INTRON(MODIFIER||||835|BICD1|protein_coding|CODING|ENST00000548411|7|1),INTRON(MODIFIER||||975|BICD1|protein_coding|CODING|ENST00000281474|7|1),INTRON(MODIFIER|||||BICD1|nonsense_mediated_decay|CODING|ENST00000395758|7|1),INTRON(MODIFIER|||||BICD1|retained_intron|CODING|ENST00000552226|1|1) +chrX 153010066 rs11803 C T 73.8 . DP=34;EFF=DOWNSTREAM(MODIFIER||4008||221|ABCD1|protein_coding|CODING|ENST00000443684||1),INTRAGENIC(MODIFIER|||||ABCD1||CODING|||1),INTRON(MODIFIER|||||U52111.14|antisense|NON_CODING|ENST00000434284|1|1),UTR_3_PRIME(MODIFIER||877||745|ABCD1|protein_coding|CODING|ENST00000218104|10|1) diff -r 49b5bd3dc316 -r 1739678def32 test-data/test_rmEff.vcf --- /dev/null Thu Jan 01 00:00:00 1970 +0000 +++ b/test-data/test_rmEff.vcf Thu Oct 23 06:06:25 2014 -0500 @@ -0,0 +1,10 @@ +##fileformat=VCFv4.1 +##samtoolsVersion=0.1.18 (r982:295) +##INFO= +##SnpEffVersion="3.5 (build 2014-02-12), by Pablo Cingolani" +##SnpEffCmd="SnpEff -i vcf -o vcf -upDownStreamLen 5000 -spliceSiteSize 1 -stats /Users/jj/gxt/gxt/database/files/004/dataset_4998.dat GRCh37.71 /Users/jj/gxt/gxt/database/files/004/dataset_4996.dat " +##INFO= +#CHROM POS ID REF ALT QUAL FILTER INFO +chr4 100239319 rs1229984 T C 94.3 . DP=29 +chr12 32491626 rs1471909 G A 124.0 . DP=22 +chrX 153010066 rs11803 C T 73.8 . DP=34 diff -r 49b5bd3dc316 -r 1739678def32 test-data/test_rmInfo.vcf --- a/test-data/test_rmInfo.vcf Tue Oct 21 12:17:25 2014 -0500 +++ b/test-data/test_rmInfo.vcf Thu Oct 23 06:06:25 2014 -0500 @@ -4,7 +4,7 @@ ##SnpEffVersion="3.5 (build 2014-02-12), by Pablo Cingolani" ##SnpEffCmd="SnpEff -i vcf -o vcf -upDownStreamLen 5000 -spliceSiteSize 1 -stats /Users/jj/gxt/gxt/database/files/004/dataset_4998.dat GRCh37.71 /Users/jj/gxt/gxt/database/files/004/dataset_4996.dat " ##INFO= -#CHROM POS ID REF ALT QUAL FILTER INFO FORMAT /data/sequencing/output/biotec4/mapping/L774.q1.s.bam /data/sequencing/output/biotec4/mapping/L775.q1.s.bam +#CHROM POS ID REF ALT QUAL FILTER INFO chr4 100239319 rs1229984 T C 94.3 . DP=29;EFF=EXON(MODIFIER|||||ADH1B|processed_transcript|CODING|ENST00000504498|3|1),EXON(MODIFIER|||||ADH1B|retained_intron|CODING|ENST00000515694|3|1),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cAc/cGc|H48R|375|ADH1B|protein_coding|CODING|ENST00000305046|3|1),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cAc/cGc|H8R|335|ADH1B|protein_coding|CODING|ENST00000394887|3|1),UTR_3_PRIME(MODIFIER||2729|||ADH1B|nonsense_mediated_decay|CODING|ENST00000506651|4|1) chr12 32491626 rs1471909 G A 124.0 . DP=22;EFF=DOWNSTREAM(MODIFIER||532|||BICD1|retained_intron|CODING|ENST00000552160||1),INTRON(MODIFIER||||835|BICD1|protein_coding|CODING|ENST00000548411|7|1),INTRON(MODIFIER||||975|BICD1|protein_coding|CODING|ENST00000281474|7|1),INTRON(MODIFIER|||||BICD1|nonsense_mediated_decay|CODING|ENST00000395758|7|1),INTRON(MODIFIER|||||BICD1|retained_intron|CODING|ENST00000552226|1|1) chrX 153010066 rs11803 C T 73.8 . DP=34;EFF=DOWNSTREAM(MODIFIER||4008||221|ABCD1|protein_coding|CODING|ENST00000443684||1),INTRAGENIC(MODIFIER|||||ABCD1||CODING|||1),INTRON(MODIFIER|||||U52111.14|antisense|NON_CODING|ENST00000434284|1|1),UTR_3_PRIME(MODIFIER||877||745|ABCD1|protein_coding|CODING|ENST00000218104|10|1)