diff --git a/cre.annotation.strip.sh b/cre.annotation.strip.sh index 9e47013..052b988 100755 --- a/cre.annotation.strip.sh +++ b/cre.annotation.strip.sh @@ -1,6 +1,6 @@ #!/bin/bash bname=`basename $1 .vcf.gz` -vt rminfo -t CSQ,af_adj_exac_afr,af_adj_exac_amr,af_adj_exac_eas,af_adj_exac_fin,af_adj_exac_nfe,af_adj_exac_oth,af_adj_exac_sas,af_exac_all,ac_exac_all,an_exac_all,ac_adj_exac_afr,an_adj_exac_afr,ac_adj_exac_amr,an_adj_exac_amr,ac_adj_exac_eas,an_adj_exac_eas,ac_adj_exac_fin,an_adj_exac_fin,ac_adj_exac_nfe,an_adj_exac_nfe,ac_adj_exac_oth,an_adj_exac_oth,ac_adj_exac_sas,an_adj_exac_sas,common_pathogenic,max_aaf_all,num_exac_Het,num_exac_Hom,rs_ids,af_1kg_amr,af_1kg_eas,af_1kg_sas,af_1kg_afr,af_1kg_eur,af_1kg_all,fitcons,encode_consensus_gm12878,encode_consensus_h1hesc,encode_consensus_helas3,encode_consensus_hepg2,encode_consensus_huvec,encode_consensus_k562,dgv,hapmap1,hapmap2,gnomAD_AF,gnomAD_AFR_AF,gnomAD_AMR_AF,gnomAD_ASJ_AF,gnomAD_EAS_AF,gnomAD_FIN_AF,gnomAD_NFE_AF,gnomAD_OTH_AF,gnomad_ac_es,gnomad_hom_es,gnomad_af_es,gnomad_an_es,gnomad_ac_gs,gnomad_hom_gs,gnomad_af_gs,gnomad_an_gs,gnomad_ac,gnomad_af_popmax,gnomad_an,gnomad_af,clinvar_pathogenic,clinvar_sig,CADD_phred,phyloP20way_mammalian,phastCons20way_mammalian,Vest3_score,Revel_score,Gerp_score \ +vt rminfo -t CSQ,af_adj_exac_afr,af_adj_exac_amr,af_adj_exac_eas,af_adj_exac_fin,af_adj_exac_nfe,af_adj_exac_oth,af_adj_exac_sas,af_exac_all,ac_exac_all,an_exac_all,ac_adj_exac_afr,an_adj_exac_afr,ac_adj_exac_amr,an_adj_exac_amr,ac_adj_exac_eas,an_adj_exac_eas,ac_adj_exac_fin,an_adj_exac_fin,ac_adj_exac_nfe,an_adj_exac_nfe,ac_adj_exac_oth,an_adj_exac_oth,ac_adj_exac_sas,an_adj_exac_sas,common_pathogenic,max_aaf_all,num_exac_Het,num_exac_Hom,rs_ids,af_1kg_amr,af_1kg_eas,af_1kg_sas,af_1kg_afr,af_1kg_eur,af_1kg_all,fitcons,encode_consensus_gm12878,encode_consensus_h1hesc,encode_consensus_helas3,encode_consensus_hepg2,encode_consensus_huvec,encode_consensus_k562,dgv,hapmap1,hapmap2,gnomAD_AF,gnomAD_AFR_AF,gnomAD_AMR_AF,gnomAD_ASJ_AF,gnomAD_EAS_AF,gnomAD_FIN_AF,gnomAD_NFE_AF,gnomAD_OTH_AF,gnomad_ac_es,gnomad_hom_es,gnomad_af_es,gnomad_an_es,gnomad_ac_gs,gnomad_hom_gs,gnomad_af_gs,gnomad_an_gs,gnomad_ac,gnomad_af_popmax,gnomad_an,gnomad_af,clinvar_pathogenic,clinvar_sig,CADD_phred,phyloP20way_mammalian,phastCons20way_mammalian,Vest3_score,Revel_score,Gerp_score,vcfanno_gnomad_ac_es,vcfanno_gnomad_hom_es,vcfanno_gnomad_af_es,vcfanno_gnomad_an_es,vcfanno_gnomad_ac_gs,vcfanno_gnomad_hom_gs,vcfanno_gnomad_af_gs,vcfanno_gnomad_an_gs,vcfanno_gnomad_ac,vcfanno_gnomad_af_popmax,vcfanno_gnomad_an,vcfanno_gnomad_af \ $1 -o $bname.no_anno.vcf.gz tabix $bname.no_anno.vcf.gz diff --git a/cre.gemini.variant_impacts.vcf2db.sh b/cre.gemini.variant_impacts.vcf2db.sh index 3578848..f81cb0c 100755 --- a/cre.gemini.variant_impacts.vcf2db.sh +++ b/cre.gemini.variant_impacts.vcf2db.sh @@ -65,7 +65,7 @@ then i.spliceregion" fi -sQuery=$sQuery" from variants v,variant_impacts i where "$severity_filter"v.gnomad_af_popmax <= "$max_af" and \ +sQuery=$sQuery" from variants v,variant_impacts i where "$severity_filter"v.vcfanno_gnomad_af_popmax <= "$max_af" and \ v.variant_id=i.variant_id and \ (v.dp>="$depth_threshold" or v.dp='' or v.dp is null)" diff --git a/cre.gemini2txt.vcf2db.sh b/cre.gemini2txt.vcf2db.sh index 91b08ff..78cd4ae 100755 --- a/cre.gemini2txt.vcf2db.sh +++ b/cre.gemini2txt.vcf2db.sh @@ -45,10 +45,10 @@ sQuery="select \ exon as Exon,\ domains as Protein_domains,\ rs_ids as rsIDs,\ - gnomad_af as Gnomad_af,\ - gnomad_af_popmax as Gnomad_af_popmax,\ - gnomad_ac as Gnomad_ac,\ - gnomad_hom as Gnomad_hom,\ + vcfanno_gnomad_af as Gnomad_af,\ + vcfanno_gnomad_af_popmax as Gnomad_af_popmax,\ + vcfanno_gnomad_ac as Gnomad_ac,\ + vcfanno_gnomad_hom as Gnomad_hom,\ sift_score as Sift_score,\ polyphen_score as Polyphen_score,\ cadd_phred as Cadd_score,\ @@ -90,7 +90,7 @@ sQuery=$sQuery"hgvsc as Nucleotide_change_ensembl,\ old_multiallelic as Old_multiallelic from variants \ where \ - (dp >= "$depth_threshold" or dp = '' or dp is null) "$severity_filter" and gnomad_af_popmax <= "$max_af + (dp >= "$depth_threshold" or dp = '' or dp is null) "$severity_filter" and vcfanno_gnomad_af_popmax <= "$max_af s_gt_filter='' if [ -n "$denovo" ] && [ "$denovo" == 1 ] diff --git a/cre.vcf2cre.sh b/cre.vcf2cre.sh index 9487c4d..bcba477 100755 --- a/cre.vcf2cre.sh +++ b/cre.vcf2cre.sh @@ -25,7 +25,7 @@ ##INFO= # gunzip -c 331606_S1.flt.nochr.vcf.gz | grep -v "^#" | grep PASS | sed s/":DPI:"/":DP:"awk -F ':' '{print $0"\tDP="$9}' | awk -F "\t" '{print $1"\t"$2"\t"$3"\t"$4"\t"$5"\t"$6"\t"$7"\t"$11";"$8"\t"$9"\t"$10}' >> 331606.vcf -. /hpf/largeprojects/ccmbio/naumenko/tools/bcbio_1.1.5/.test_profile +. /hpf/largeprojects/ccmbio/naumenko/tools/bcbio_1.1.5/.profile115 bname=`basename $original_vcf .vcf.gz` diff --git a/cre.vcfanno.conf b/cre.vcfanno.conf index c364aa1..f4600d9 100644 --- a/cre.vcfanno.conf +++ b/cre.vcfanno.conf @@ -1,43 +1,44 @@ +# using prefix vcfanno to discriminate data from vcfanno and vep [[annotation]] file="variation/gnomad_exome.vcf.gz" fields=["AC","nhomalt","AF_popmax","AN"] -names=["gnomad_ac_es","gnomad_hom_es","gnomad_af_es","gnomad_an_es"] +names=["vcfanno_gnomad_ac_es","vcfanno_gnomad_hom_es","vcfanno_gnomad_af_es","vcfanno_gnomad_an_es"] ops=["first","first","first","first"] [[annotation]] file="variation/gnomad_genome.vcf.gz" fields=["AC", "nhomalt","AF_popmax","AN"] -names=["gnomad_ac_gs", "gnomad_hom_gs","gnomad_af_gs","gnomad_an_gs"] +names=["vcfanno_gnomad_ac_gs", "vcfanno_gnomad_hom_gs","vcfanno_gnomad_af_gs","vcfanno_gnomad_an_gs"] ops=["self","self","self","self"] [[postannotation]] -fields=["gnomad_ac_es","gnomad_ac_gs"] +fields=["vcfanno_gnomad_ac_es","vcfanno_gnomad_ac_gs"] op="sum" -name="gnomad_ac" +name="vcfanno_gnomad_ac" type="Integer" [[postannotation]] -fields=["gnomad_hom_es","gnomad_hom_gs"] +fields=["vcfanno_gnomad_hom_es","vcfanno_gnomad_hom_gs"] op="sum" -name="gnomad_hom" +name="vcfanno_gnomad_hom" type="Integer" [[postannotation]] -fields=["gnomad_af_es","gnomad_af_gs"] +fields=["vcfanno_gnomad_af_es","vcfanno_gnomad_af_gs"] op="max" -name="gnomad_af_popmax" +name="vcfanno_gnomad_af_popmax" type="Float" [[postannotation]] -fields=["gnomad_an_es","gnomad_an_gs"] +fields=["vcfanno_gnomad_an_es","vcfanno_gnomad_an_gs"] op="sum" -name="gnomad_an" +name="vcfanno_gnomad_an" type="Integer" [[postannotation]] -fields=["gnomad_ac","gnomad_an"] +fields=["vcfanno_gnomad_ac","vcfanno_gnomad_an"] op="div2" -name="gnomad_af" +name="vcfanno_gnomad_af" type="Float" [[annotation]]