Mercurial > repos > saskia-hiltemann > annovar
changeset 0:d3a72e55deca draft
Uploaded
author | saskia-hiltemann |
---|---|
date | Wed, 18 Sep 2013 10:51:20 -0400 |
parents | |
children | 7d9353127f8a |
files | README README~ tool-data/annovar.loc.sample tool_data_table_conf.xml.sample tool_dependencies.xml tools/annovar/annovar.sh tools/annovar/annovar.xml |
diffstat | 7 files changed, 1872 insertions(+), 0 deletions(-) [+] |
line wrap: on
line diff
--- /dev/null Thu Jan 01 00:00:00 1970 +0000 +++ b/README Wed Sep 18 10:51:20 2013 -0400 @@ -0,0 +1,213 @@ +ANNOVAR needs to be installed manually in the following way: + + +1) If you already have ANNOVAR installed on your system, simply edit the tool-data/annovar.loc file to reflect locations of + the perl scripts (annotate_variation.pl and convert2annovar.pl) and humandb directory (directory containing the annovar database files) +1b) Restart galaxy instance for changes in .loc file to take effect + + +2) If you do not have ANNOVAR installed, request annovar download and sign license here: + http://www.openbioinformatics.org/annovar/annovar_download_form.php + + 3) Once downloaded, install annovar per the installation instructions and edit annovar.loc file to reflect location of directory containing perl scripts. + tool uses annotate_variation.pl and convert2annovar.pl + + 4) Then download all desired databases for all desired builds as follows: + annotate_variation.pl -downdb -buildver <build> [-webfrom annovar] <database> <humandb> + + where <humandb> is location where all database files should be stored + and <database> is the database file to download, e.g. refGene (see bottom of document for all available database files at the time of writing this tool) + and <build> can be hg18 or hg19 for humans, also other organisms available. + + list of all available databases can be found here: http://www.openbioinformatics.org/annovar/annovar_db.html + + 5) edit the tool-data/annovar.loc file to reflect location of humandb folder + 5b) restart galaxy instance for changes in .loc file to take effect + +6) Tool uses cgatools join for combining of files, this should be installed automatically with repository. If not, get a copy from Complete Genomics directly: + wget http://sourceforge.net/projects/cgatools/files/1.7.1/cgatools-1.7.1.5-linux_binary-x86_64.tar.gz + tar xvzf cgatools-1.7.1.5-linux_binary-x86_64.tar.gz + + and place the "cgatools" binary found in bin/ directory on your $PATH + + +list of files in my own humandb folder: + + hg18_ALL.sites.2012_04.txt + hg18_ALL.sites.2012_04.txt.idx + hg18_avsift.txt + hg18_avsift.txt.idx + hg18_CEU.sites.2010_07.txt + hg18_CEU.sites.2010_07.txt.idx + hg18_cg46.txt + hg18_cg46.txt.idx + hg18_cg69.txt + hg18_cg69.txt.idx + hg18_cytoBand.txt + hg18_dgv.txt + hg18_ensGeneMrna.fa + hg18_ensGene.txt + hg18_esp5400_aa.txt + hg18_esp5400_aa.txt.idx + hg18_esp5400_all.txt + hg18_esp5400_all.txt.idx + hg18_esp5400_ea.txt + hg18_esp5400_ea.txt.idx + hg18_esp6500_aa.txt + hg18_esp6500_aa.txt.idx + hg18_esp6500_all.txt + hg18_esp6500_all.txt.idx + hg18_esp6500_ea.txt + hg18_esp6500_ea.txt.idx + hg18_esp6500si_aa.txt + hg18_esp6500si_aa.txt.idx + hg18_esp6500si_all.txt + hg18_esp6500si_all.txt.idx + hg18_esp6500si_ea.txt + hg18_esp6500si_ea.txt.idx + hg18_example_db_generic.txt + hg18_example_db_gff3.txt + hg18_genomicSuperDups.txt + hg18_gerp++gt2.txt + hg18_gerp++gt2.txt.idx + hg18_gwasCatalog.txt + hg18_JPTCHB.sites.2010_07.txt + hg18_JPTCHB.sites.2010_07.txt.idx + hg18_keggMapDesc.txt + hg18_keggPathway.txt + hg18_kgXref.txt + hg18_knownGeneMrna.fa + hg18_knownGene.txt + hg18_ljb_all.txt + hg18_ljb_all.txt.idx + hg18_ljb_lrt.txt + hg18_ljb_lrt.txt.idx + hg18_ljb_mt.txt + hg18_ljb_mt.txt.idx + hg18_ljb_phylop.txt + hg18_ljb_phylop.txt.idx + hg18_ljb_pp2.txt + hg18_ljb_pp2.txt.idx + hg18_ljb_sift.txt + hg18_ljb_sift.txt.idx + hg18_phastConsElements44way.txt + hg18_refGeneMrna.fa + hg18_refGene.txt + hg18_refLink.txt + hg18_snp128NonFlagged.txt + hg18_snp128NonFlagged.txt.idx + hg18_snp128.txt + hg18_snp128.txt.idx + hg18_snp129NonFlagged.txt + hg18_snp129NonFlagged.txt.idx + hg18_snp129.txt + hg18_snp129.txt.idx + hg18_snp130NonFlagged.txt + hg18_snp130NonFlagged.txt.idx + hg18_snp130.txt + hg18_snp130.txt.idx + hg18_snp131NonFlagged.txt + hg18_snp131NonFlagged.txt.idx + hg18_snp131.txt + hg18_snp131.txt.idx + hg18_snp132NonFlagged.txt + hg18_snp132NonFlagged.txt.idx + hg18_snp132.txt + hg18_snp132.txt.idx + hg18_tfbsConsSites.txt + hg18_YRI.sites.2010_07.txt + hg18_YRI.sites.2010_07.txt.idx + hg19_AFR.sites.2012_04.txt + hg19_AFR.sites.2012_04.txt.idx + hg19_ALL.sites.2010_11.txt + hg19_ALL.sites.2010_11.txt.idx + hg19_ALL.sites.2012_02.txt + hg19_ALL.sites.2012_02.txt.idx + hg19_ALL.sites.2012_04.txt + hg19_ALL.sites.2012_04.txt.idx + hg19_AMR.sites.2012_04.txt + hg19_AMR.sites.2012_04.txt.idx + hg19_ASN.sites.2012_04.txt + hg19_ASN.sites.2012_04.txt.idx + hg19_avsift.txt + hg19_avsift.txt.idx + hg19_cg46.txt + hg19_cg46.txt.idx + hg19_cg69.txt + hg19_cg69.txt.idx + hg19_cosmic61.txt + hg19_cosmic61.txt.idx + hg19_cosmic63.txt + hg19_cosmic63.txt.idx + hg19_cosmic64.txt + hg19_cosmic64.txt.idx + hg19_cosmic65.txt + hg19_cosmic65.txt.idx + hg19_cytoBand.txt + hg19_dgv.txt + hg19_ensGeneMrna.fa + hg19_ensGene.txt + hg19_esp5400_aa.txt + hg19_esp5400_aa.txt.idx + hg19_esp5400_all.txt + hg19_esp5400_all.txt.idx + hg19_esp5400_ea.txt + hg19_esp5400_ea.txt.idx + hg19_esp6500_aa.txt + hg19_esp6500_aa.txt.idx + hg19_esp6500_all.txt + hg19_esp6500_all.txt.idx + hg19_esp6500_ea.txt + hg19_esp6500_ea.txt.idx + hg19_esp6500si_aa.txt + hg19_esp6500si_aa.txt.idx + hg19_esp6500si_all.txt + hg19_esp6500si_all.txt.idx + hg19_esp6500si_ea.txt + hg19_esp6500si_ea.txt.idx + hg19_EUR.sites.2012_04.txt + hg19_EUR.sites.2012_04.txt.idx + hg19_genomicSuperDups.txt + hg19_gerp++gt2.txt + hg19_gerp++gt2.txt.idx + hg19_gwasCatalog.txt + hg19_keggMapDesc.txt + hg19_keggPathway.txt + hg19_kgXref.txt + hg19_knownGeneMrna.fa + hg19_knownGene.txt + hg19_ljb_all.txt + hg19_ljb_all.txt.idx + hg19_ljb_lrt.txt + hg19_ljb_lrt.txt.idx + hg19_ljb_mt.txt + hg19_ljb_mt.txt.idx + hg19_ljb_phylop.txt + hg19_ljb_phylop.txt.idx + hg19_ljb_pp2.txt + hg19_ljb_pp2.txt.idx + hg19_ljb_sift.txt + hg19_ljb_sift.txt.idx + hg19_phastConsElements46way.txt + hg19_refGeneMrna.fa + hg19_refGene.txt + hg19_refLink.txt + hg19_snp130NonFlagged.txt + hg19_snp130NonFlagged.txt.idx + hg19_snp130.txt + hg19_snp130.txt.idx + hg19_snp131NonFlagged.txt + hg19_snp131NonFlagged.txt.idx + hg19_snp131.txt + hg19_snp132NonFlagged.txt + hg19_snp132NonFlagged.txt.idx + hg19_snp132.txt + hg19_snp132.txt.idx + hg19_snp135NonFlagged.txt + hg19_snp135NonFlagged.txt.idx + hg19_snp135.txt + hg19_snp137NonFlagged.txt + hg19_snp137NonFlagged.txt.idx + hg19_snp137.txt + hg19_tfbsConsSites.txt +
--- /dev/null Thu Jan 01 00:00:00 1970 +0000 +++ b/README~ Wed Sep 18 10:51:20 2013 -0400 @@ -0,0 +1,211 @@ +ANNOVAR needs to be installed manually in the following way: + + +1) If you already have ANNOVAR installed on your system, simply edit the tool-data/annovar.loc file to reflect locations of + the perl scripts (annotate_variation.pl and convert2annovar.pl) and humandb directory (directory containing the annovar database files) +1b) Restart galaxy instance for changes in .loc file to take effect + + +2) If you do not have ANNOVAR installed, request annovar download and sign license here: + http://www.openbioinformatics.org/annovar/annovar_download_form.php + + 3) Once downloaded, install annovar per the installation instructions and edit annovar.loc file to reflect location of directory containing perl scripts. + tool uses annotate_variation.pl and convert2annovar.pl + + 4) Then download all desired databases for all desired builds as follows: + annotate_variation.pl -downdb -buildver <build> [-webfrom annovar] <database> <humandb> + + where <humandb> is location where all database files should be stored + and <database> is the database file to download, e.g. refGene (see bottom of document for all available database files at the time of writing this tool) + and <build> can be hg18 or hg19 for humans, also other organisms available. + + list of all available databases can be found here: http://www.openbioinformatics.org/annovar/annovar_db.html + + 5) edit the tool-data/annovar.loc file to reflect location of humandb folder + 5b) restart galaxy instance for changes in .loc file to take effect + +6) Tool uses cgatools join for combining of files, this should be installed automatically with repository. If not, get a copy from Complete Genomics directly: + wget http://sourceforge.net/projects/cgatools/files/1.7.1/cgatools-1.7.1.5-linux_binary-x86_64.tar.gz + tar xvzf cgatools-1.7.1.5-linux_binary-x86_64.tar.gz + + and place the "cgatools" binary found in bin/ directory on your $PATH + + +list of files in my own humandb folder: + + hg18_ALL.sites.2012_04.txt + hg18_ALL.sites.2012_04.txt.idx + hg18_avsift.txt + hg18_avsift.txt.idx + hg18_CEU.sites.2010_07.txt + hg18_CEU.sites.2010_07.txt.idx + hg18_cg46.txt + hg18_cg46.txt.idx + hg18_cg69.txt + hg18_cg69.txt.idx + hg18_cytoBand.txt + hg18_dgv.txt + hg18_ensGeneMrna.fa + hg18_ensGene.txt + hg18_esp5400_aa.txt + hg18_esp5400_aa.txt.idx + hg18_esp5400_all.txt + hg18_esp5400_all.txt.idx + hg18_esp5400_ea.txt + hg18_esp5400_ea.txt.idx + hg18_esp6500_aa.txt + hg18_esp6500_aa.txt.idx + hg18_esp6500_all.txt + hg18_esp6500_all.txt.idx + hg18_esp6500_ea.txt + hg18_esp6500_ea.txt.idx + hg18_esp6500si_aa.txt + hg18_esp6500si_aa.txt.idx + hg18_esp6500si_all.txt + hg18_esp6500si_all.txt.idx + hg18_esp6500si_ea.txt + hg18_esp6500si_ea.txt.idx + hg18_example_db_generic.txt + hg18_example_db_gff3.txt + hg18_genomicSuperDups.txt + hg18_gerp++gt2.txt + hg18_gerp++gt2.txt.idx + hg18_gwasCatalog.txt + hg18_JPTCHB.sites.2010_07.txt + hg18_JPTCHB.sites.2010_07.txt.idx + hg18_keggMapDesc.txt + hg18_keggPathway.txt + hg18_kgXref.txt + hg18_knownGeneMrna.fa + hg18_knownGene.txt + hg18_ljb_all.txt + hg18_ljb_all.txt.idx + hg18_ljb_lrt.txt + hg18_ljb_lrt.txt.idx + hg18_ljb_mt.txt + hg18_ljb_mt.txt.idx + hg18_ljb_phylop.txt + hg18_ljb_phylop.txt.idx + hg18_ljb_pp2.txt + hg18_ljb_pp2.txt.idx + hg18_ljb_sift.txt + hg18_ljb_sift.txt.idx + hg18_phastConsElements44way.txt + hg18_refGeneMrna.fa + hg18_refGene.txt + hg18_refLink.txt + hg18_snp128NonFlagged.txt + hg18_snp128NonFlagged.txt.idx + hg18_snp128.txt + hg18_snp128.txt.idx + hg18_snp129NonFlagged.txt + hg18_snp129NonFlagged.txt.idx + hg18_snp129.txt + hg18_snp129.txt.idx + hg18_snp130NonFlagged.txt + hg18_snp130NonFlagged.txt.idx + hg18_snp130.txt + hg18_snp130.txt.idx + hg18_snp131NonFlagged.txt + hg18_snp131NonFlagged.txt.idx + hg18_snp131.txt + hg18_snp131.txt.idx + hg18_snp132NonFlagged.txt + hg18_snp132NonFlagged.txt.idx + hg18_snp132.txt + hg18_snp132.txt.idx + hg18_tfbsConsSites.txt + hg18_YRI.sites.2010_07.txt + hg18_YRI.sites.2010_07.txt.idx + hg19_AFR.sites.2012_04.txt + hg19_AFR.sites.2012_04.txt.idx + hg19_ALL.sites.2010_11.txt + hg19_ALL.sites.2010_11.txt.idx + hg19_ALL.sites.2012_02.txt + hg19_ALL.sites.2012_02.txt.idx + hg19_ALL.sites.2012_04.txt + hg19_ALL.sites.2012_04.txt.idx + hg19_AMR.sites.2012_04.txt + hg19_AMR.sites.2012_04.txt.idx + hg19_ASN.sites.2012_04.txt + hg19_ASN.sites.2012_04.txt.idx + hg19_avsift.txt + hg19_avsift.txt.idx + hg19_cg46.txt + hg19_cg46.txt.idx + hg19_cg69.txt + hg19_cg69.txt.idx + hg19_cosmic61.txt + hg19_cosmic61.txt.idx + hg19_cosmic63.txt + hg19_cosmic63.txt.idx + hg19_cosmic64.txt + hg19_cosmic64.txt.idx + hg19_cytoBand.txt + hg19_dgv.txt + hg19_ensGeneMrna.fa + hg19_ensGene.txt + hg19_esp5400_aa.txt + hg19_esp5400_aa.txt.idx + hg19_esp5400_all.txt + hg19_esp5400_all.txt.idx + hg19_esp5400_ea.txt + hg19_esp5400_ea.txt.idx + hg19_esp6500_aa.txt + hg19_esp6500_aa.txt.idx + hg19_esp6500_all.txt + hg19_esp6500_all.txt.idx + hg19_esp6500_ea.txt + hg19_esp6500_ea.txt.idx + hg19_esp6500si_aa.txt + hg19_esp6500si_aa.txt.idx + hg19_esp6500si_all.txt + hg19_esp6500si_all.txt.idx + hg19_esp6500si_ea.txt + hg19_esp6500si_ea.txt.idx + hg19_EUR.sites.2012_04.txt + hg19_EUR.sites.2012_04.txt.idx + hg19_genomicSuperDups.txt + hg19_gerp++gt2.txt + hg19_gerp++gt2.txt.idx + hg19_gwasCatalog.txt + hg19_keggMapDesc.txt + hg19_keggPathway.txt + hg19_kgXref.txt + hg19_knownGeneMrna.fa + hg19_knownGene.txt + hg19_ljb_all.txt + hg19_ljb_all.txt.idx + hg19_ljb_lrt.txt + hg19_ljb_lrt.txt.idx + hg19_ljb_mt.txt + hg19_ljb_mt.txt.idx + hg19_ljb_phylop.txt + hg19_ljb_phylop.txt.idx + hg19_ljb_pp2.txt + hg19_ljb_pp2.txt.idx + hg19_ljb_sift.txt + hg19_ljb_sift.txt.idx + hg19_phastConsElements46way.txt + hg19_refGeneMrna.fa + hg19_refGene.txt + hg19_refLink.txt + hg19_snp130NonFlagged.txt + hg19_snp130NonFlagged.txt.idx + hg19_snp130.txt + hg19_snp130.txt.idx + hg19_snp131NonFlagged.txt + hg19_snp131NonFlagged.txt.idx + hg19_snp131.txt + hg19_snp132NonFlagged.txt + hg19_snp132NonFlagged.txt.idx + hg19_snp132.txt + hg19_snp132.txt.idx + hg19_snp135NonFlagged.txt + hg19_snp135NonFlagged.txt.idx + hg19_snp135.txt + hg19_snp137NonFlagged.txt + hg19_snp137NonFlagged.txt.idx + hg19_snp137.txt + hg19_tfbsConsSites.txt +
--- /dev/null Thu Jan 01 00:00:00 1970 +0000 +++ b/tool-data/annovar.loc.sample Wed Sep 18 10:51:20 2013 -0400 @@ -0,0 +1,6 @@ +#loc file for annovar tool + +# <columns>value, dbkey, name, ANNOVAR_scripts, ANNOVAR_humandb</columns> + +hg18 hg18 build 36 (hg18) /path/to/annovarscripts /path/to/humandb +hg19 hg19 build 37 (hg19) /path/to/annovarscripts /path/to/humandb
--- /dev/null Thu Jan 01 00:00:00 1970 +0000 +++ b/tool_data_table_conf.xml.sample Wed Sep 18 10:51:20 2013 -0400 @@ -0,0 +1,5 @@ +<!-- ANNOVAR files --> +<table name="annovar_loc" comment_char="#"> +<columns>value, dbkey, name, ANNOVAR_scripts, ANNOVAR_humandb</columns> +<file path="tool-data/annovar.loc" /> +</table>
--- /dev/null Thu Jan 01 00:00:00 1970 +0000 +++ b/tool_dependencies.xml Wed Sep 18 10:51:20 2013 -0400 @@ -0,0 +1,23 @@ +<?xml version="1.0"?> +<tool_dependency> + <package name="cgatools17" version="1"> + <install version="1.0"> + <actions> + <action type="download_by_url">http://sourceforge.net/projects/cgatools/files/1.7.1/cgatools-1.7.1.5-linux_binary-x86_64.tar.gz</action> + <action type="shell_command"> chmod a+x bin/cgatools</action> + <action type="move_file"> + <source>bin/cgatools</source> + <destination>$INSTALL_DIR/bin</destination> + </action> + <action type="set_environment"> + <environment_variable name="PATH" action="prepend_to">$INSTALL_DIR/bin</environment_variable> + <environment_variable name="PATH" action="prepend_to">$REPOSITORY_INSTALL_DIR</environment_variable> + </action> + </actions> + </install> + <readme> + Downloads and installs the cgatools binary. + </readme> + </package> +</tool_dependency> +
--- /dev/null Thu Jan 01 00:00:00 1970 +0000 +++ b/tools/annovar/annovar.sh Wed Sep 18 10:51:20 2013 -0400 @@ -0,0 +1,1203 @@ +#!/bin/bash + +test="N" + + +function usage(){ + echo "usage: $0 todo" +} + +function runfilter(){ + ifile=$1 + columnname=$2 + threshold=$3 + + if [[ $threshold == "-1" ]] + then + echo "not filtering" + return + fi + + echo "filtering: $columnname, $threshold" + cat $ifile + + #get column number corresponding to column header + column=`awk 'BEGIN{ + FS="\t"; + col=-1 + }{ + if(FNR==1){ + for(i=1;i<=NF;i++){ + if($i == "'"${columnname}"'") + col=i + } + print col + } + }' $ifile ` + + if [ $column == -1 ] + then + echo "no such column, exiting" + return + fi + + #perform filtering using the threshold + awk 'BEGIN{ + FS="\t"; + OFS="\t"; + }{ + if(FNR==1) + print $0; + if(FNR>1){ + if( $"'"${column}"'" == "" ) # empty column, then print + print $0 + else if ("'"${threshold}"'" == "text"){} #if set to text dont check threshold + + else if ($"'"${column}"'" < "'"${threshold}"'") #else do check it + print $0 + } + }' $ifile > tmpfile + + mv tmpfile $ifile +} + +# arguments: originalfile,resultfile,chrcol,startcol,endcol,refcol,obscol,addcols +function joinresults(){ + ofile=$1 + rfile=$2 + colchr=$3 + colstart=$4 + colend=$5 + colref=$6 + colobs=$7 + addcols=$8 #e.g. "B.col1,B.col2" + + test="N" + + # echo "joining result with original file" + if [ $test == "Y" ] + then + echo "ofile: $ofile" + head $ofile + echo "rfile: $rfile" + head $rfile + fi + numlines=`wc $rfile | cut -d" " -f2` + + # if empty results file, just add header fields + if [[ ! -s $rfile ]] + then + dummycol=${addcols:2} + outputcol=${dummycol//",B."/" "} + numcommas=`echo "$addcols" | grep -o "," | wc -l` + + awk 'BEGIN{FS="\t";OFS="\t"}{ + if(FNR==1) + print $0,"'"$outputcol"'"; + else{ + printf $0 + for(i=0;i<="'"$numcommas"'"+1;i++) + printf "\t" + printf "\n" + } + }END{}' $ofile > tempofile + + mv tempofile $ofile + return + fi + + + #get input file column names for cgatools join + col_chr_name=`head -1 $rfile | cut -f${colchr}` + col_start_name=`head -1 $rfile | cut -f${colstart}` + col_end_name=`head -1 $rfile | cut -f${colend}` + col_ref_name=`head -1 $rfile | cut -f${colref}` + col_obs_name=`head -1 $rfile | cut -f${colobs}` + + #get annotation file column names for cgatools join + chr_name=`head -1 $ofile | cut -f${chrcol}` + start_name=`head -1 $ofile | cut -f${startcol}` + end_name=`head -1 $ofile | cut -f${endcol}` + ref_name=`head -1 $ofile | cut -f${refcol}` + obs_name=`head -1 $ofile | cut -f${obscol}` + + if [ $test == "Y" ] + then + echo "input file" + echo "chr col: $col_chr_name ($colchr)" + echo "start col: $col_start_name ($colstart)" + echo "end col: $col_end_name ($colend)" + echo "ref col: $col_ref_name ($colref)" + echo "obs col: $col_obs_name ($colobs)" + echo "" + echo "annotation file" + echo "chr col: $chr_name ($chrcol)" + echo "start col: $start_name ($startcol)" + echo "end col: $end_name ($endcol)" + echo "ref col: $ref_name ($refcol)" + echo "obs col: $obs_name ($obscol)" + fi + + #perform join + cgatools join --beta \ + --input $ofile $rfile \ + --output temporiginal \ + --match ${chr_name}:${col_chr_name} \ + --match ${start_name}:${col_start_name} \ + --match ${end_name}:${col_end_name} \ + --match ${ref_name}:${col_ref_name} \ + --match ${obs_name}:${col_obs_name} \ + --select A.*,$addcols \ + --always-dump \ + --output-mode compact + + #replace originalfile + sed -i 's/^>//g' temporiginal #join sometimes adds a '>' symbol to header + mv temporiginal originalfile + + if [ $test == "Y" ] + then + echo "joining complete" + head originalfile + echo "" + fi + +} + + + + +set -- `getopt -n$0 -u -a --longoptions="inputfile: buildver: humandb: varfile: VCF: chrcol: startcol: endcol: refcol: obscol: vartypecol: convertcoords: geneanno: verdbsnp: tfbs: mce: cytoband: segdup: dgv: gwas: ver1000g: cg46: cg69: impactscores: esp: gerp: cosmic61: cosmic63: cosmic64: cosmic65: outall: outfilt: outinvalid: scriptsdir: dorunannovar: dofilter: filt_dbsnp: filt1000GALL: filt1000GAFR: filt1000GAMR: filt1000GASN: filt1000GEUR: filtESP6500ALL: filtESP6500EA: filtESP6500AA: filtcg46: filtcg69: dummy:" "h:" "$@"` || usage +[ $# -eq 0 ] && usage + + + +while [ $# -gt 0 ] +do + case "$1" in + --inputfile) infile=$2;shift;; # inputfile + --buildver) buildver=$2;shift;; # hg18 or hg19 + --humandb) humandb=$2;shift;; # location of humandb database + --varfile) varfile=$2;shift;; # Y or N + --VCF) vcf=$2;shift;; #Y or N + --chrcol) chrcol=$2;shift;; # which column has chr + --startcol) startcol=$2;shift;; # which column has start + --endcol) endcol=$2;shift;; # which column has end + --refcol) refcol=$2;shift;; # which column has ref + --obscol) obscol=$2;shift;; # which column has alt + --vartypecol) vartypecol=$2;shift;; # which column has vartype + --convertcoords) convertcoords=$2;shift;; # Y or N convert coordinate from CG to 1-based? + --geneanno) geneanno=$2;shift;; # comma-separated list of strings refSeq, knowngene, ensgene + --verdbsnp) verdbsnp=$2;shift;; #comma-separated list of dbsnp version to annotate with (e.g. "132,135NonFlagged,137")" + --tfbs) tfbs=$2;shift;; # Y or N + --mce) mce=$2;shift;; # Y or N + --cytoband) cytoband=$2;shift;; # Y or N + --segdup) segdup=$2;shift;; # Y or N + --dgv) dgv=$2;shift;; # Y or N + --gwas) gwas=$2;shift;; # Y or N + --ver1000g) ver1000g=$2;shift;; # Y or N + --cg46) cg46=$2;shift;; + --cg69) cg69=$2;shift;; + --impactscores) impactscores=$2;shift;; # Y or N + --scriptsdir) scriptsdir=$2;shift;; # Y or N + --esp) esp=$2;shift;; # Y or N + --gerp) gerp=$2;shift;; # Y or N + --cosmic61) cosmic61=$2;shift;; # Y or N + --cosmic63) cosmic63=$2;shift;; # Y or N + --cosmic64) cosmic64=$2;shift;; # Y or N + --cosmic65) cosmic65=$2;shift;; # Y or N + --filt_dbsnp) filt_dbsnp=$2;shift;; + --filt1000GALL) threshold_1000g_ALL=$2;shift;; #threshold value + --filt1000GAFR) threshold_1000g_AFR=$2;shift;; #threshold value + --filt1000GAMR) threshold_1000g_AMR=$2;shift;; #threshold value + --filt1000GASN) threshold_1000g_ASN=$2;shift;; #threshold value + --filt1000GEUR) threshold_1000g_EUR=$2;shift;; #threshold value + --filtESP6500ALL) threshold_ESP6500_ALL=$2;shift;; #threshold value + --filtESP6500EA) threshold_ESP6500_EA=$2;shift;; #threshold value + --filtESP6500AA) threshold_ESP6500_AA=$2;shift;; #threshold value + --filtcg46) threshold_cg46=$2;shift;; + --filtcg69) threshold_cg69=$2;shift;; + --outall) outfile_all=$2;shift;; # file + --outfilt) outfile_filt=$2;shift;; # file + --outinvalid) outfile_invalid=$2;shift;; #file + --dorunannovar) dorunannovar=$2;shift;; #Y or N + --dofilter) dofilter=$2;shift;; #Y or N + -h) shift;; + --) shift;break;; + -*) usage;; + *) break;; + esac + shift +done + + +if [ $test == "Y" ] +then + echo "dorunannovar: $dorunannovar" + echo "infile: $infile" + echo "buildver: $buildver" + echo "annovardb: $humandb" + echo "verdbnsp: $verdbsnp" + echo "geneanno: $geneanno" + echo "tfbs: $tfbs" + echo "mce: $mce" + echo "cytoband: $cytoband" + echo "segdup: $segdup" + echo "dgv: $dgv" + echo "gwas: $gwas" + echo "g1000: ${g1000}" + echo "cg46: ${cg46}" + echo "cg69: ${cg69}" + echo "impactscores: $impactscores" + echo "esp: $esp" + echo "gerp: $gerp" + echo "cosmic: $cosmic" + echo "outfile: $outfile_all" + echo "outinvalid: $outfile_invalid" + echo "outfiltered: $outfile_filt" + echo "varfile: $varfile" + echo "vcf" $vcf + echo "chrcol: $chrcol" + echo "startcol: $startcol" + echo "endcol: $endcol" + echo "refcol: $refcol" + echo "obscol: $obscol" + echo "convertcoords: $convertcoords" + echo "vartypecol: $vartypecol" + echo "dofilter: $dofilter" + echo "threshold_1000g_ALL : $threshold_1000g_ALL" + echo "threshold_1000g_AFR : $threshold_1000g_AFR" + echo "threshold_1000g_AMR : $threshold_1000g_AMR" + echo "threshold_1000g_ASN : $threshold_1000g_ASN" + echo "threshold_1000g_EUR : $threshold_1000g_EUR" + echo "threshold_ESP6500_ALL: $threshold_ESP6500_ALL" + echo "threshold_ESP6500_EA : $threshold_ESP6500_EA" + echo "threshold_ESP6500_AA : $threshold_ESP6500_AA" + +fi + + +refgene="N" +knowngene="N" +ensgene="N" +#parse geneanno param +if [[ $geneanno =~ "refSeq" ]] +then + refgene="Y" +fi +if [[ $geneanno =~ "knowngene" ]] +then + knowngene="Y" +fi +if [[ $geneanno =~ "ensgene" ]] +then + ensgene="Y" +fi + + +#parse verdbsnp/1000g/esp strings +dbsnpstr=${verdbsnp//,/ } +filt_dbsnpstr=${filt_dbsnp//,/ } +g1000str=${ver1000g//,/ } +espstr=${esp//,/ } + +if [ $test == "Y" ] +then + echo "annotate dbsnp: $dbsnpstr" + echo "annotate esp: $espstr" + echo "filter dbsnp: $filt_dbsnpstr" +fi + +mutationtaster="N" +avsift="N" +lrt="N" +polyphen2="N" +phylop="N" +ljbsift="N" +#parse impactscores param +if [[ $impactscores =~ "mutationtaster" ]] +then + mutationtaster="Y" +fi +if [[ $impactscores =~ "sift" ]] +then + avsift="Y" +fi +if [[ $impactscores =~ "lrt" ]] +then + lrt="Y" +fi +if [[ $impactscores =~ "ljbsift" ]] +then + ljbsift="Y" +fi +if [[ $impactscores =~ "pp2" ]] +then + polyphen2="Y" +fi +if [[ $impactscores =~ "phylop" ]] +then + phylop="Y" +fi + +if [[ $varfile == "Y" ]] +then + convertcoords="Y" +fi + +#ljb refers to Liu, Jian, Boerwinkle paper in Human Mutation with pubmed ID 21520341. Cite this paper if you use the scores + + +#column header names we will be adding +# ESP 6500 +esp6500si_colheader_ALL="ESP6500si_ALL" +esp6500si_colheader_EA="ESP6500si_EA" +esp6500si_colheader_AA="ESP6500si_AA" +esp6500_colheader_ALL="ESP6500_ALL" +esp6500_colheader_EA="ESP6500_EA" +esp6500_colheader_AA="ESP6500_AA" +esp5400si_colheader_ALL="ESP5400si_ALL" +esp5400si_colheader_EA="ESP5400si_EA" +esp5400si_colheader_AA="ESP5400si_AA" +esp5400_colheader_ALL="ESP5400_ALL" +esp5400_colheader_EA="ESP5400_EA" +esp5400_colheader_AA="ESP5400_AA" + + +# cg46 cg69 +cg46_colheader="CG_46_genomes" +cg69_colheader="CG_69_genomes" + +cp $infile originalfile +#run annovar or filter only? +if [ $dorunannovar == "Y" ] +then + + + #################################### + # + # PREPARE INPUT FILE + # + #################################### + + echo "converting input file" + vcfheader="" + if [ $vcf == "Y" ] #if CG varfile, convert + then + # convert vcf to annovarinput + $scriptsdir/convert2annovar.pl --format vcf4 --includeinfo --outfile annovarinput $infile 2>&1 + + #construct header line from vcf file + cat $infile | grep "#CHROM" > additionalcols + sed -i 's/#//g' additionalcols + vcfheader="\t`cat additionalcols`" + echo "vcfheader:$vcfheader" + echo -e "chromosome\tbegin\tend\treference\tobserved\t`cat additionalcols`" > originalfile + cat annovarinput >> originalfile + + chrcol=1 + startcol=2 + endcol=3 + refcol=4 + obscol=5 + + + elif [ $varfile == "Y" ] #if CG varfile, convert + then + # convert varfile + $scriptsdir/convert2annovar.pl --format cg --outfile annovarinput $infile 2>&1 + echo -e "chromosome\tbegin\tend\treference\talleleSeq\tvarType\thaplotype" > originalfile + cat annovarinput | cut -f1-6,8 >> originalfile + cat annovarinput | cut -f1-5 >> annovarinput2 + mv annovarinput2 annovarinput + + chrcol=1 + startcol=2 + endcol=3 + refcol=4 + obscol=5 + + elif [ $convertcoords == "Y" ] # if CG-coordinates, convert + then + #echo "rearranging columns and converting coordinates" + awk 'BEGIN{ + FS="\t"; + OFS="\t"; + }{ + if(FNR>1) { + if( $"'"${vartypecol}"'" == "snp" ){ $"'"${startcol}"'" += 1 }; + if( $"'"${vartypecol}"'" == "ins" ){ $"'"${refcol}"'" = "-" }; + if( $"'"${vartypecol}"'" == "del" ){ $"'"${startcol}"'" +=1; $"'"${obscol}"'" = "-" }; + if( $"'"${vartypecol}"'" == "sub" ){ $"'"${startcol}"'" += 1 }; + + printf("%s\t%s\t%s\t%s\t%s\n" ,$"'"${chrcol}"'",$"'"${startcol}"'",$"'"${endcol}"'",$"'"${refcol}"'",$"'"${obscol}"'"); + } + } + END{ + }' $infile > annovarinput + + #remove any "chr" prefixes + sed -i 's/chr//g' annovarinput + + awk 'BEGIN{ + FS="\t"; + OFS="\t"; + }{ + if(FNR>=1) { + if( $"'"${vartypecol}"'" == "snp" ){ $"'"${startcol}"'" += 1 }; + if( $"'"${vartypecol}"'" == "ins" ){ $"'"${refcol}"'" = "-" }; + if( $"'"${vartypecol}"'" == "del" ){ $"'"${startcol}"'" +=1; $"'"${obscol}"'" = "-" }; + if( $"'"${vartypecol}"'" == "sub" ){ $"'"${startcol}"'" += 1 }; + + print $0 + } + } + END{ + }' $infile > originalfile + + #remove any "chr" prefixes + sed -i 's/chr//g' originalfile + sed -i 's/omosome/chromosome/g' originalfile + + + else #only rearrange columns if already 1-based coordinates + echo "rearranging columns " + awk 'BEGIN{ + FS="\t"; + OFS="\t"; + }{ + if(FNR>1) { + printf("%s\t%s\t%s\t%s\t%s\n",$"'"${chrcol}"'",$"'"${startcol}"'",$"'"${endcol}"'",$"'"${refcol}"'",$"'"${obscol}"'"); + } + } + END{ + }' $infile > annovarinput + + #remove any "chr" prefixes + sed -i 's/chr//g' annovarinput + sed 's/chr//g' $infile > originalfile + sed -i 's/omosome/chromosome/g' originalfile + fi + + echo "...finished conversion" + + + + + #################################### + # + # RUN ANNOVAR COMMANDS + # + #################################### + + + + ###### gene-based annotation ####### + + # RefSeq Gene + if [ $refgene == "Y" ] + then + echo -e "\nrefSeq gene" + $scriptsdir/annotate_variation.pl --geneanno --buildver $buildver -dbtype gene annovarinput $humandb 2>&1 + + annovarout=annovarinput.variant_function + sed -i '1i\RefSeq_Func\tRefSeq_Gene\tchromosome\tstart\tend\treference\talleleSeq"'"$vcfheader"'"' $annovarout + joinresults originalfile $annovarout 3 4 5 6 7 B.RefSeq_Func,B.RefSeq_Gene + + annovarout=annovarinput.exonic_variant_function + sed -i '1i\linenum\tRefSeq_ExonicFunc\tRefSeq_AAChange\tchromosome\tstart\tend\treference\talleleSeq"'"$vcfheader"'"' $annovarout + joinresults originalfile $annovarout 4 5 6 7 8 B.RefSeq_ExonicFunc,B.RefSeq_AAChange + fi + + + # UCSC KnownGene + if [ $knowngene == "Y" ] + then + echo -e "\nUCSC known gene" + $scriptsdir/annotate_variation.pl --geneanno --buildver $buildver -dbtype knowngene annovarinput $humandb 2>&1 + + annovarout=annovarinput.variant_function + sed -i '1i\UCSCKnownGene_Func\tUCSCKnownGene_Gene\tchromosome\tstart\tend\treference\talleleSeq"'"$vcfheader"'"' $annovarout + joinresults originalfile $annovarout 3 4 5 6 7 B.UCSCKnownGene_Func,B.UCSCKnownGene_Gene + + annovarout=annovarinput.exonic_variant_function + sed -i '1i\linenum\tUCSCKnownGene_ExonicFunc\tUCSCKnownGene_AAChange\tchromosome\tstart\tend\treference\talleleSeq"'"$vcfheader"'"' $annovarout + joinresults originalfile $annovarout 4 5 6 7 8 B.UCSCKnownGene_ExonicFunc,B.UCSCKnownGene_AAChange + fi + + + # Emsembl Gene + if [ $ensgene == "Y" ] + then + echo -e "\nEnsembl gene" + $scriptsdir/annotate_variation.pl --geneanno --buildver $buildver -dbtype ensgene annovarinput $humandb 2>&1 + + annovarout=annovarinput.variant_function + sed -i '1i\EnsemblGene_Func\tEnsemblGene_Gene\tchromosome\tstart\tend\treference\talleleSeq"'"$vcfheader"'"' $annovarout + joinresults originalfile $annovarout 3 4 5 6 7 B.EnsemblGene_Func,B.EnsemblGene_Gene + + annovarout=annovarinput.exonic_variant_function + sed -i '1i\linenum\tEnsemblGene_ExonicFunc\tEnsemblGene_AAChange\tchromosome\tstart\tend\treference\talleleSeq"'"$vcfheader"'"' $annovarout + joinresults originalfile $annovarout 4 5 6 7 8 B.EnsemblGene_ExonicFunc,B.EnsemblGene_AAChange + fi + + + + ###### region-based annotation ####### + + + # Transcription Factor Binding Sites Annotation + if [ $mce == "Y" ] + then + echo -e "\nMost Conserved Elements" + + if [ $buildver == "hg18" ] + then + $scriptsdir/annotate_variation.pl --regionanno --buildver $buildver -dbtype mce44way annovarinput $humandb 2>&1 + annovarout=annovarinput.${buildver}_phastConsElements44way + sed -i '1i\db\tphastConsElements44way\tchromosome\tstart\tend\treference\talleleSeq"'"$vcfheader"'"' $annovarout + joinresults originalfile $annovarout 3 4 5 6 7 B.phastConsElements44way + + else #hg19 + $scriptsdir/annotate_variation.pl --regionanno --buildver $buildver -dbtype mce46way annovarinput $humandb 2>&1 + annovarout=annovarinput.${buildver}_phastConsElements46way + sed -i '1i\db\tphastConsElements46way\tchromosome\tstart\tend\treference\talleleSeq"'"$vcfheader"'"' $annovarout + joinresults originalfile $annovarout 3 4 5 6 7 B.phastConsElements46way + fi + + fi + + + + # Transcription Factor Binding Sites Annotation + if [ $tfbs == "Y" ] + then + echo -e "\nTranscription Factor Binding Site Annotation" + $scriptsdir/annotate_variation.pl --regionanno --buildver $buildver -dbtype tfbs annovarinput $humandb 2>&1 + + # arguments: originalfile, resultfile,chrcol,startcol,endcol,refcol,obscol,selectcolumns + annovarout=annovarinput.${buildver}_tfbsConsSites + sed -i '1i\db\tTFBS\tchromosome\tstart\tend\treference\talleleSeq"'"$vcfheader"'"' $annovarout + joinresults originalfile $annovarout 3 4 5 6 7 B.TFBS + fi + + + + # Identify cytogenetic band for genetic variants + if [ $cytoband == "Y" ] + then + echo -e "\nCytogenic band Annotation" + $scriptsdir/annotate_variation.pl --regionanno --buildver $buildver -dbtype band annovarinput $humandb 2>&1 + + annovarout=annovarinput.${buildver}_cytoBand + sed -i '1i\db\tBand\tchromosome\tstart\tend\treference\talleleSeq"'"$vcfheader"'"' $annovarout + joinresults originalfile $annovarout 3 4 5 6 7 B.Band + fi + + + # Identify variants located in segmental duplications + if [ $segdup == "Y" ] + then + echo -e "\nSegmental Duplications Annotation" + $scriptsdir/annotate_variation.pl --regionanno --buildver $buildver -dbtype segdup annovarinput $humandb 2>&1 + + annovarout=annovarinput.${buildver}_genomicSuperDups + sed -i '1i\db\tSegDup\tchromosome\tstart\tend\treference\talleleSeq"'"$vcfheader"'"' $annovarout + joinresults originalfile $annovarout 3 4 5 6 7 B.SegDup + fi + + + + # Identify previously reported structural variants in DGV + if [ $dgv == "Y" ] + then + echo -e "\nDGV Annotation" + $scriptsdir/annotate_variation.pl --regionanno --buildver $buildver -dbtype dgv annovarinput $humandb 2>&1 + + annovarout=annovarinput.${buildver}_dgv + sed -i '1i\db\tDGV\tchromosome\tstart\tend\treference\talleleSeq"'"$vcfheader"'"' $annovarout + joinresults originalfile $annovarout 3 4 5 6 7 B.DGV + fi + + + # Identify variants reported in previously published GWAS studies + if [ $gwas == "Y" ] + then + echo -e "\nGWAS Annotation" + $scriptsdir/annotate_variation.pl --regionanno --buildver $buildver -dbtype gwascatalog annovarinput $humandb 2>&1 + + annovarout=annovarinput.${buildver}_gwasCatalog + sed -i '1i\db\tGWAS\tchromosome\tstart\tend\treference\talleleSeq"'"$vcfheader"'"' $annovarout + joinresults originalfile $annovarout 3 4 5 6 7 B.GWAS + fi + + + + + ###### filter-based annotation ####### + + #dbSNP + for version in $dbsnpstr + do + if [ $version == "None" ] + then + break + fi + echo -e "\ndbSNP region Annotation, version: $version" + $scriptsdir/annotate_variation.pl --filter --buildver $buildver -dbtype ${version} annovarinput $humandb 2>&1 + + annovarout=annovarinput.${buildver}_${version}_dropped + sed -i '1i\db\tdb'${version}'\tchromosome\tstart\tend\treference\talleleSeq"'"$vcfheader"'"' $annovarout + joinresults originalfile $annovarout 3 4 5 6 7 B.db${version} + + + done + + + + #1000 Genomes + + if [ $ver1000g != "None" ] + then + + for version in $g1000str + do + #column headers + g1000_colheader_ALL="${version}_ALL" + g1000_colheader_AFR="${version}_AFR" + g1000_colheader_AMR="${version}_AMR" + g1000_colheader_ASN="${version}_ASN" + g1000_colheader_EUR="${version}_EUR" + g1000_colheader_CEU="${version}_CEU" + g1000_colheader_YRI="${version}_YRI" + g1000_colheader_JPTCHB="${version}_JPTCHB" + + doALL="N" + doAMR="N" + doAFR="N" + doASN="N" + doEUR="N" + doCEU="N" + doYRI="N" + doJPTCHB="N" + + + if [ $version == "1000g2012apr" ] + then + fileID="2012_04" + doALL="Y" + if [ $buildver == "hg19" ] + then + doAMR="Y" + doAFR="Y" + doASN="Y" + doEUR="Y" + fi + elif [[ $version == "1000g2012feb" && $buildver == "hg19" ]] + then + fileID="2012_02" + doALL="Y" + elif [[ $version == "1000g2010nov" && $buildver == "hg19" ]] + then + fileID="2010_11" + doALL="Y" + elif [[ $version == "1000g2010jul" && $buildver == "hg18" ]] + then + fileID="2010_07" + doALL="N" + doCEU="Y" + doYRI="Y" + doJPTCHB="Y" + else + echo "unrecognized 1000g version, skipping" + fi + + #ALL + if [ $doALL == "Y" ] + then + echo -e "\n1000Genomes ALL" + $scriptsdir/annotate_variation.pl --filter --buildver $buildver -dbtype "${version}_all" annovarinput $humandb 2>&1 + + annovarout=annovarinput.${buildver}_ALL.sites.${fileID}_dropped + sed -i '1i\db\t'$g1000_colheader_ALL'\tchromosome\tstart\tend\treference\talleleSeq"'"$vcfheader"'"' $annovarout + joinresults originalfile $annovarout 3 4 5 6 7 B.$g1000_colheader_ALL + fi + + # AFR + if [ $doAFR == "Y" ] + then + echo -e "\n1000Genomes AFR" + $scriptsdir/annotate_variation.pl --filter --buildver $buildver -dbtype "${version}_afr" annovarinput $humandb 2>&1 + + annovarout=annovarinput.${buildver}_AFR.sites.${fileID}_dropped + sed -i '1i\db\t'$g1000_colheader_AFR'\tchromosome\tstart\tend\treference\talleleSeq"'"$vcfheader"'"' $annovarout + joinresults originalfile $annovarout 3 4 5 6 7 B.$g1000_colheader_AFR + fi + + + # AMR + if [ $doAMR == "Y" ] + then + echo -e "\n1000Genomes AMR" + $scriptsdir/annotate_variation.pl --filter --buildver $buildver -dbtype "${version}_amr" annovarinput $humandb 2>&1 + + annovarout=annovarinput.${buildver}_AMR.sites.${fileID}_dropped + sed -i '1i\db\t'$g1000_colheader_AMR'\tchromosome\tstart\tend\treference\talleleSeq"'"$vcfheader"'"' $annovarout + joinresults originalfile $annovarout 3 4 5 6 7 B.$g1000_colheader_AMR + fi + + # ASN + if [ $doASN == "Y" ] + then + echo -e "\n1000Genomes ASN" + $scriptsdir/annotate_variation.pl --filter --buildver $buildver -dbtype "${version}_asn" annovarinput $humandb 2>&1 + + annovarout=annovarinput.${buildver}_ASN.sites.${fileID}_dropped + sed -i '1i\db\t'$g1000_colheader_ASN'\tchromosome\tstart\tend\treference\talleleSeq"'"$vcfheader"'"' $annovarout + joinresults originalfile $annovarout 3 4 5 6 7 B.$g1000_colheader_ASN + fi + + # EUR + if [ $doEUR == "Y" ] + then + echo -e "\n1000Genomes EUR" + $scriptsdir/annotate_variation.pl --filter --buildver $buildver -dbtype "${version}_eur" annovarinput $humandb 2>&1 + + annovarout=annovarinput.${buildver}_EUR.sites.${fileID}_dropped + sed -i '1i\db\t'$g1000_colheader_EUR'\tchromosome\tstart\tend\treference\talleleSeq"'"$vcfheader"'"' $annovarout + joinresults originalfile $annovarout 3 4 5 6 7 B.$g1000_colheader_EUR + fi + + # CEU + if [ $doCEU == "Y" ] + then + echo -e "\n1000Genomes CEU" + $scriptsdir/annotate_variation.pl --filter --buildver $buildver -dbtype "${version}_ceu" annovarinput $humandb 2>&1 + + annovarout=annovarinput.${buildver}_CEU.sites.${fileID}_dropped + sed -i '1i\db\t'$g1000_colheader_CEU'\tchromosome\tstart\tend\treference\talleleSeq"'"$vcfheader"'"' $annovarout + joinresults originalfile $annovarout 3 4 5 6 7 B.$g1000_colheader_CEU + fi + + # YRI + if [ $doYRI == "Y" ] + then + echo -e "\n1000Genomes YRI" + $scriptsdir/annotate_variation.pl --filter --buildver $buildver -dbtype "${version}_yri" annovarinput $humandb 2>&1 + + annovarout=annovarinput.${buildver}_YRI.sites.${fileID}_dropped + sed -i '1i\db\t'$g1000_colheader_YRI'\tchromosome\tstart\tend\treference\talleleSeq"'"$vcfheader"'"' $annovarout + joinresults originalfile $annovarout 3 4 5 6 7 B.$g1000_colheader_YRI + + + fi + + #JPTCHB + if [ $doJPTCHB == "Y" ] + then + echo -e "\n1000Genomes JPTCHB" + $scriptsdir/annotate_variation.pl --filter --buildver $buildver -dbtype "${version}_jptchb" annovarinput $humandb 2>&1 + + annovarout=annovarinput.${buildver}_JPTCHB.sites.${fileID}_dropped + sed -i '1i\db\t'$g1000_colheader_JPTCHB'\tchromosome\tstart\tend\treference\talleleSeq"'"$vcfheader"'"' $annovarout + joinresults originalfile $annovarout 3 4 5 6 7 B.$g1000_colheader_JPTCHB + fi + + done + fi + + + # SIFT + if [ $avsift == "Y" ] + then + echo -e "\nSIFT Annotation" + $scriptsdir/annotate_variation.pl --filter --buildver $buildver -dbtype avsift annovarinput $humandb 2>&1 + + annovarout=annovarinput.${buildver}_avsift_dropped + sed -i '1i\db\tAVSIFT\tchromosome\tstart\tend\treference\talleleSeq"'"$vcfheader"'"' $annovarout + joinresults originalfile $annovarout 3 4 5 6 7 B.AVSIFT + fi + + #ljb refers to Liu, Jian, Boerwinkle paper in Human Mutation with pubmed ID 21520341. Cite this paper if you use the scores + # SIFT2 + if [ $ljbsift == "Y" ] + then + echo -e "\nSIFT Annotation" + $scriptsdir/annotate_variation.pl --filter --buildver $buildver -dbtype ljb_sift annovarinput $humandb 2>&1 + + annovarout=annovarinput.${buildver}_ljb_sift_dropped + sed -i '1i\db\tLJB_SIFT\tchromosome\tstart\tend\treference\talleleSeq"'"$vcfheader"'"' $annovarout + joinresults originalfile $annovarout 3 4 5 6 7 B.LJB_SIFT + fi + + + # PolyPhen2 + if [ $polyphen2 == "Y" ] + then + echo -e "\nPolyPhen Annotation" + $scriptsdir/annotate_variation.pl --filter --buildver $buildver -dbtype ljb_pp2 annovarinput $humandb 2>&1 + + annovarout=annovarinput.${buildver}_ljb_pp2_dropped + sed -i '1i\db\tPolyPhen2\tchromosome\tstart\tend\treference\talleleSeq"'"$vcfheader"'"' $annovarout + joinresults originalfile $annovarout 3 4 5 6 7 B.PolyPhen2 + fi + + + # MutationTaster + if [ $mutationtaster == "Y" ] + then + echo -e "\nMutationTaster Annotation" + $scriptsdir/annotate_variation.pl --filter --buildver $buildver -dbtype ljb_mt annovarinput $humandb 2>&1 + + annovarout=annovarinput.${buildver}_ljb_mt_dropped + sed -i '1i\db\tMutationTaster\tchromosome\tstart\tend\treference\talleleSeq"'"$vcfheader"'"' $annovarout + joinresults originalfile $annovarout 3 4 5 6 7 B.MutationTaster + fi + + + # LRT + if [ $lrt == "Y" ] + then + echo -e "\nLRT Annotation" + $scriptsdir/annotate_variation.pl --filter --buildver $buildver -dbtype ljb_lrt annovarinput $humandb 2>&1 + + annovarout=annovarinput.${buildver}_ljb_lrt_dropped + sed -i '1i\db\tLikelihoodRatioTestScore\tchromosome\tstart\tend\treference\talleleSeq"'"$vcfheader"'"' $annovarout + joinresults originalfile $annovarout 3 4 5 6 7 B.LikelihoodRatioTestScore + fi + + # PhyloP + if [ $phylop == "Y" ] + then + echo -e "\nPhyloP Annotation" + $scriptsdir/annotate_variation.pl --filter --buildver $buildver -dbtype ljb_phylop annovarinput $humandb 2>&1 + + annovarout=annovarinput.${buildver}_ljb_phylop_dropped + sed -i '1i\db\tPhyloP\tchromosome\tstart\tend\treference\talleleSeq"'"$vcfheader"'"' $annovarout + joinresults originalfile $annovarout 3 4 5 6 7 B.PhyloP + fi + + + ### ESP Exome Variant Server + if [ $esp != "None" ] + then + echo -e "\nESP Annotation" + for version in $espstr + do + echo "version: $version" + # 6500si ALL + if [ $version == "esp6500si_all" ] + then + $scriptsdir/annotate_variation.pl --filter --buildver $buildver -dbtype esp6500si_all annovarinput $humandb 2>&1 + + annovarout=annovarinput.${buildver}_esp6500si_all_dropped + sed -i '1i\db\t'$esp6500si_colheader_ALL'\tchromosome\tstart\tend\treference\talleleSeq"'"$vcfheader"'"' $annovarout + joinresults originalfile $annovarout 3 4 5 6 7 B.$esp6500si_colheader_ALL + fi + + + # 6500si European American + if [ $version == "esp6500si_ea" ] + then + $scriptsdir/annotate_variation.pl --filter --buildver $buildver -dbtype esp6500si_ea annovarinput $humandb 2>&1 + + annovarout=annovarinput.${buildver}_esp6500si_ea_dropped + sed -i '1i\db\t'$esp6500si_colheader_EA'\tchromosome\tstart\tend\treference\talleleSeq"'"$vcfheader"'" ' $annovarout + joinresults originalfile $annovarout 3 4 5 6 7 B.$esp6500si_colheader_EA + fi + + # 6500si African Americans + if [ $version == "esp6500si_aa" ] + then + $scriptsdir/annotate_variation.pl --filter --buildver $buildver -dbtype esp6500si_aa annovarinput $humandb 2>&1 + + annovarout=annovarinput.${buildver}_esp6500si_aa_dropped + sed -i '1i\db\t'$esp6500si_colheader_AA'\tchromosome\tstart\tend\treference\talleleSeq"'"$vcfheader"'" ' $annovarout + joinresults originalfile $annovarout 3 4 5 6 7 B.$esp6500si_colheader_AA + fi + + + # 6500 ALL + if [ $version == "esp6500_all" ] + then + ls + $scriptsdir/annotate_variation.pl --filter --buildver $buildver -dbtype esp6500_all annovarinput $humandb 2>&1 + + annovarout=annovarinput.${buildver}_esp6500_all_dropped + sed -i '1i\db\t'$esp6500_colheader_ALL'\tchromosome\tstart\tend\treference\talleleSeq"'"$vcfheader"'" ' $annovarout + joinresults originalfile $annovarout 3 4 5 6 7 B.$esp6500_colheader_ALL + fi + + + # 6500 European American + if [ $version == "esp6500_ea" ] + then + $scriptsdir/annotate_variation.pl --filter --buildver $buildver -dbtype esp6500_ea annovarinput $humandb 2>&1 + annovarout=annovarinput.${buildver}_esp6500_ea_dropped + sed -i '1i\db\t'$esp6500_colheader_EA'\tchromosome\tstart\tend\treference\talleleSeq"'"$vcfheader"'"' $annovarout + joinresults originalfile $annovarout 3 4 5 6 7 B.$esp6500_colheader_EA + fi + + # 6500 African Americans + if [ $version == "esp6500_aa" ] + then + $scriptsdir/annotate_variation.pl --filter --buildver $buildver -dbtype esp6500_aa annovarinput $humandb 2>&1 + + annovarout=annovarinput.${buildver}_esp6500_aa_dropped + sed -i '1i\db\t'$esp6500_colheader_AA'\tchromosome\tstart\tend\treference\talleleSeq"'"$vcfheader"'"' $annovarout + joinresults originalfile $annovarout 3 4 5 6 7 B.$esp6500_colheader_AA + fi + + + # 5400 ALL + if [ $version == "esp5400_all" ] + then + $scriptsdir/annotate_variation.pl --filter --buildver $buildver -dbtype esp5400_all annovarinput $humandb 2>&1 + + annovarout=annovarinput.${buildver}_esp5400_all_dropped + sed -i '1i\db\t'$esp5400_colheader_ALL'\tchromosome\tstart\tend\treference\talleleSeq"'"$vcfheader"'"' $annovarout + joinresults originalfile $annovarout 3 4 5 6 7 B.$esp5400_colheader_ALL + fi + + + # 5400 European American + if [ $version == "esp5400_ea" ] + then + $scriptsdir/annotate_variation.pl --filter --buildver $buildver -dbtype esp5400_ea annovarinput $humandb 2>&1 + + annovarout=annovarinput.${buildver}_esp5400_ea_dropped + sed -i '1i\db\t'$esp5400_colheader_EA'\tchromosome\tstart\tend\treference\talleleSeq"'"$vcfheader"'"' $annovarout + joinresults originalfile $annovarout 3 4 5 6 7 B.$esp5400_colheader_EA + fi + + # 5400 African Americans + if [ $version == "esp5400_aa" ] + then + $scriptsdir/annotate_variation.pl --filter --buildver $buildver -dbtype esp5400_aa annovarinput $humandb 2>&1 + + annovarout=annovarinput.${buildver}_esp5400_aa_dropped + sed -i '1i\db\t'$esp5400_colheader_AA'\tchromosome\tstart\tend\treference\talleleSeq"'"$vcfheader"'"' $annovarout + joinresults originalfile $annovarout 3 4 5 6 7 B.$esp5400_colheader_AA + fi + + done + fi + + + #ESP6500 + if [ $esp == "Y" ] + then + echo -e "\nESP Annotation OLD" + # ALL + $scriptsdir/annotate_variation.pl --filter --buildver $buildver -dbtype esp6500si_all annovarinput $humandb 2>&1 + + annovarout=annovarinput.${buildver}_esp6500si_all_dropped + sed -i '1i\db\t'$esp6500_colheader_ALL'\tchromosome\tstart\tend\treference\talleleSeq"'"$vcfheader"'"' $annovarout + joinresults originalfile $annovarout 3 4 5 6 7 B.$esp6500_colheader_ALL + + + # European American + $scriptsdir/annotate_variation.pl --filter --buildver $buildver -dbtype esp6500si_ea annovarinput $humandb 2>&1 + + annovarout=annovarinput.${buildver}_esp6500si_ea_dropped + sed -i '1i\db\t'$esp6500_colheader_EA'\tchromosome\tstart\tend\treference\talleleSeq"'"$vcfheader"'"' $annovarout + joinresults originalfile $annovarout 3 4 5 6 7 B.$esp6500_colheader_EA + + # African Americans + $scriptsdir/annotate_variation.pl --filter --buildver $buildver -dbtype esp6500si_aa annovarinput $humandb 2>&1 + + annovarout=annovarinput.${buildver}_esp6500si_aa_dropped + sed -i '1i\db\t'$esp6500_colheader_AA'\tchromosome\tstart\tend\treference\talleleSeq"'"$vcfheader"'"' $annovarout + joinresults originalfile $annovarout 3 4 5 6 7 B.$esp6500_colheader_AA + fi + + + + #GERP++ + if [ $gerp == "Y" ] + then + echo -e "\nGERP++ Annotation" + $scriptsdir/annotate_variation.pl --filter --buildver $buildver -dbtype gerp++gt2 annovarinput $humandb 2>&1 + + annovarout="annovarinput.${buildver}_gerp++gt2_dropped" + sed -i '1i\db\tGERP++\tchromosome\tstart\tend\treference\talleleSeq"'"$vcfheader"'"' $annovarout + joinresults originalfile $annovarout 3 4 5 6 7 B.GERP++ + fi + + + #COSMIC + if [[ $cosmic61 == "Y" && $buildver == "hg19" ]] + then + echo -e "\nCOSMIC61 Annotation" + $scriptsdir/annotate_variation.pl --filter --buildver $buildver -dbtype cosmic61 annovarinput $humandb 2>&1 + + annovarout="annovarinput.${buildver}_cosmic61_dropped" + sed -i '1i\db\tCOSMIC61\tchromosome\tstart\tend\treference\talleleSeq"'"$vcfheader"'"' $annovarout + joinresults originalfile $annovarout 3 4 5 6 7 B.COSMIC61 + + fi + + if [[ $cosmic63 == "Y" && $buildver == "hg19" ]] + then + echo -e "\nCOSMIC63 Annotation" + $scriptsdir/annotate_variation.pl --filter --buildver $buildver -dbtype cosmic63 annovarinput $humandb 2>&1 + + annovarout="annovarinput.${buildver}_cosmic63_dropped" + sed -i '1i\db\tCOSMIC63\tchromosome\tstart\tend\treference\talleleSeq"'"$vcfheader"'"' $annovarout + joinresults originalfile $annovarout 3 4 5 6 7 B.COSMIC63 + + fi + + if [[ $cosmic64 == "Y" && $buildver == "hg19" ]] + then + echo -e "\nCOSMIC64 Annotation" + $scriptsdir/annotate_variation.pl --filter --buildver $buildver -dbtype cosmic64 annovarinput $humandb 2>&1 + + annovarout="annovarinput.${buildver}_cosmic64_dropped" + sed -i '1i\db\tCOSMIC64\tchromosome\tstart\tend\treference\talleleSeq"'"$vcfheader"'"' $annovarout + joinresults originalfile $annovarout 3 4 5 6 7 B.COSMIC64 + + fi + + if [[ $cosmic65 == "Y" && $buildver == "hg19" ]] + then + echo -e "\nCOSMIC65 Annotation" + $scriptsdir/annotate_variation.pl --filter --buildver $buildver -dbtype cosmic65 annovarinput $humandb 2>&1 + + annovarout="annovarinput.${buildver}_cosmic65_dropped" + sed -i '1i\db\tCOSMIC65\tchromosome\tstart\tend\treference\talleleSeq"'"$vcfheader"'"' $annovarout + joinresults originalfile $annovarout 3 4 5 6 7 B.COSMIC65 + + fi + + #cg46 + if [[ $cg46 == "Y" ]] + then + echo -e "\nCG 46 genomes Annotation" + $scriptsdir/annotate_variation.pl --filter --buildver $buildver -dbtype cg46 annovarinput $humandb 2>&1 + + annovarout="annovarinput.${buildver}_cg46_dropped" + sed -i '1i\db\t'${cg46_colheader}'\tchromosome\tstart\tend\treference\talleleSeq"'"$vcfheader"'"' $annovarout + joinresults originalfile $annovarout 3 4 5 6 7 B.${cg46_colheader} + + fi + + + #cg69 + if [[ $cg69 == "Y" ]] + then + echo -e "\nCG 69 genomes Annotation" + $scriptsdir/annotate_variation.pl --filter --buildver $buildver -dbtype cg69 annovarinput $humandb 2>&1 + + annovarout="annovarinput.${buildver}_cg69_dropped" + sed -i '1i\db\t'${cg69_colheader}'\tchromosome\tstart\tend\treference\talleleSeq"'"$vcfheader"'"' $annovarout + joinresults originalfile $annovarout 3 4 5 6 7 B.${cg69_colheader} + + fi + + + + if [ $convertcoords == "Y" ] + then + echo "converting back coordinates" + awk 'BEGIN{ + FS="\t"; + OFS="\t"; + }{ + if (FNR==1) + print $0 + if(FNR>1) { + $"'"${chrcol}"'" = "chr"$"'"${chrcol}"'" + if( $"'"${vartypecol}"'" == "snp" ){ $"'"${startcol}"'" -= 1 }; + if( $"'"${vartypecol}"'" == "ins" ){ $"'"${refcol}"'" = "" }; + if( $"'"${vartypecol}"'" == "del" ){ $"'"${startcol}"'" -=1; $"'"${obscol}"'" = "" }; + if( $"'"${vartypecol}"'" == "sub" ){ $"'"${startcol}"'" -= 1 }; + print $0 + + } + } + END{ + }' originalfile > originalfile_coords + else + mv originalfile originalfile_coords + fi + + #restore "chr" prefix? + + #move to outputfile + if [ ! -s annovarinput.invalid_input ] + then + echo "Congrats, your input file contained no invalid lines!" > annovarinput.invalid_input + fi + + cp originalfile_coords $outfile_all + cp annovarinput.invalid_input $outfile_invalid 2>&1 +fi #if $dorunannovar + + + + + +############################################ +# +# Filter Annotated Variants +# +############################################ + + +if [[ $dofilter == "Y" ]] +then + echo "starting filtering" + cp originalfile filteredfile + + ### do the filtering + # usage: runfilter <column name> <threshold> (-1=do not filter, 0=filter any value) + + #1000genomes + runfilter filteredfile ${g1000_colheader_ALL} ${threshold_1000g_ALL} + runfilter filteredfile ${g1000_colheader_AFR} ${threshold_1000g_AFR} + runfilter filteredfile ${g1000_colheader_AMR} ${threshold_1000g_AMR} + runfilter filteredfile ${g1000_colheader_ASN} ${threshold_1000g_ASN} + runfilter filteredfile ${g1000_colheader_EUR} ${threshold_1000g_EUR} + + #esp + runfilter filteredfile ${esp6500_colheader_ALL} ${threshold_ESP6500_ALL} + runfilter filteredfile ${esp6500_colheader_EA} ${threshold_ESP6500_EA} + runfilter filteredfile ${esp6500_colheader_AA} ${threshold_ESP6500_AA} + + #dbsnp + for version in $filt_dbsnpstr + do + if [ $version == "None" ] + then + break + fi + runfilter filteredfile "db$version" "text" #-42 will filter any non-empty string in that field + + done + + #complete genomics + runfilter filteredfile ${cg46_colheader} ${threshold_cg46} + runfilter filteredfile ${cg69_colheader} ${threshold_cg69} + + #move filtered output file to galaxy output file + cp filteredfile $outfile_filt + +fi + + + + + + + + + + + + + + + + +
--- /dev/null Thu Jan 01 00:00:00 1970 +0000 +++ b/tools/annovar/annovar.xml Wed Sep 18 10:51:20 2013 -0400 @@ -0,0 +1,211 @@ +<tool id="Annovar" name="ANNOVAR" version="2013aug"> + <description> Annotate a file using ANNOVAR </description> + + <requirements> + <requirement type="package" version="1">cgatools17</requirement> + </requirements> + + <command interpreter="bash"> + annovar.sh + --impactscores ${impactscores} + --esp ${esp} + --gerp ${gerp} + --cosmic61 ${cosmic61} + --cosmic63 ${cosmic63} + --cosmic64 ${cosmic64} + --cosmic65 ${cosmic65} + --outall ${annotated} + --outinvalid ${invalid} + --dorunannovar ${dorun} + --inputfile ${infile} + --buildver ${reference.fields.dbkey} + --humandb ${reference.fields.ANNOVAR_humandb} + --scriptsdir ${reference.fields.ANNOVAR_scripts} + --verdbsnp ${verdbsnp} + --geneanno ${geneanno} + --tfbs ${tfbs} + --mce ${mce} + --cytoband ${cytoband} + --segdup ${segdup} + --dgv ${dgv} + --gwas ${gwas} + #if $filetype.type == "other" + --varfile N + --VCF N + --chrcol ${filetype.col_chr} + --startcol ${filetype.col_start} + --endcol ${filetype.col_end} + --obscol ${filetype.col_obs} + --refcol ${filetype.col_ref} + + #if $filetype.convertcoords.convert == "Y" + --vartypecol ${filetype.convertcoords.col_vartype} + --convertcoords Y + #else + --convertcoords N + #end if + #end if + #if $filetype.type == "vcf" + --varfile N + --VCF Y + --convertcoords N + #end if + #if $filetype.type == "varfile" + --varfile Y + --VCF N + #end if + --cg46 ${cgfortysix} + --cg69 ${cgsixtynine} + --ver1000g ${ver1000g} + + </command> + + <inputs> + <param name="dorun" type="hidden" value="Y"/> <!-- will add tool in future to filter on annovar columns, then will call annovar.sh with dorun==N --> + <param name="reference" type="select" label="Reference"> + <options from_data_table="annovar_loc" /> + </param> + + <param name="infile" type="data" label="Select file to annotate" help="Must be CG varfile or a tab-separated file with a 1 line header"/> + <conditional name="filetype"> + <param name="type" type="select" label="Select filetype" > + <option value="vcf" selected="false"> VCF4 file </option> + <option value="varfile" selected="false"> CG varfile </option> + <option value="other" selected="false"> Other </option> + </param> + <when value="other"> + <param name="col_chr" type="data_column" data_ref="infile" multiple="False" label="Chromosome Column" /> + <param name="col_start" type="data_column" data_ref="infile" multiple="False" label="Start Column" /> + <param name="col_end" type="data_column" data_ref="infile" multiple="False" label="End Column" /> + <param name="col_ref" type="data_column" data_ref="infile" multiple="False" label="Reference Allele Column" /> + <param name="col_obs" type="data_column" data_ref="infile" multiple="False" label="Observed Allele Column" /> + <conditional name="convertcoords"> + <param name="convert" type="select" label="Is this file using Complete Genomics (0-based half-open) cooridinates?" > + <option value="Y"> Yes </option> + <option value="N" selected="True"> No </option> + </param> + <when value="Y"> + <param name="col_vartype" type="data_column" data_ref="infile" multiple="False" label="varType Column" /> + </when> + </conditional> + </when> + </conditional> + + + + <param name="geneanno" type="select" label="Select Gene Annotation(s)" multiple="true" optional="true" display="checkboxes"> + <option value="refSeq" selected="true" > RefSeq </option> + <option value="knowngene"> UCSC KnownGene </option> + <option value="ensgene" > Ensembl </option> + </param> + + + <!-- region-based annotation --> + <param name="cytoband" type="boolean" checked="False" truevalue="Y" falsevalue="N" label="Cytogenic band Annotation?" help="This option identifies Giemsa-stained chromosomes bands, (e.g. 1q21.1-q23.3)."/> + <param name="tfbs" type="boolean" checked="False" truevalue="Y" falsevalue="N" label="Transcription Factor Binding Site Annotation?"/> + <param name="mce" type="boolean" checked="False" truevalue="Y" falsevalue="N" label="Most Conserved Elements Annotation?" help="This option phastCons 44-way alignments to annotate variants that fall within conserved genomic regions."/> + <param name="segdup" type="boolean" checked="False" truevalue="Y" falsevalue="N" label="Segmental Duplication Annotation?" help="Genetic variants that are mapped to segmental duplications are most likely sequence alignment errors and should be treated with extreme caution."/> + <param name="dgv" type="boolean" checked="False" truevalue="Y" falsevalue="N" label="DGV (Database of Genomic Variants) Annotation?" help="Identify previously reported structural variants in DGV (Database of Genomic Variants) "/> + <param name="gwas" type="boolean" checked="False" truevalue="Y" falsevalue="N" label="GWAS studies Annotation?" help="Identify variants reported in previously published GWAS (Genome-wide association studies) "/> + + + + <!-- filter-based annotation --> + <param name="verdbsnp" type="select" label="Select dbSNP version(s) to annotate with" multiple="true" display="checkboxes" optional="true" help="SNPs in dbSNP may be flagged as Clinically Associated, Select the NonFlagged version if you do not wish to annotate with these SNPs "> + <option value="snp128" > 128 (hg18/hg19) </option> + <option value="snp128NonFlagged"> 128 NonFlagged </option> + <option value="snp129" > 129 (hg18/hg19) </option> + <option value="snp129NonFlagged"> 129 NonFlagged </option> + <option value="snp130" > 130 (hg18/hg19) </option> + <option value="snp130NonFlagged"> 130 NonFlagged </option> + <option value="snp131" > 131 (hg18/hg19) </option> + <option value="snp131NonFlagged"> 131 NonFlagged </option> + <option value="snp132" > 132 (hg18/hg19) </option> + <option value="snp132NonFlagged"> 132 NonFlagged </option> + <option value="snp135" > 135 (hg19 only) </option> + <option value="snp135NonFlagged"> 135 NonFlagged </option> + <option value="snp137" > 137 (hg19 only) </option> + <option value="snp137NonFlagged"> 137 NonFlagged </option> + </param> + + <param name="ver1000g" type="select" label="Select 1000Genomes Annotation(s)" multiple="true" display="checkboxes" optional="true" help="2012april database for ALL populations was converted to hg18 using the UCSC liftover program"> + <option value="1000g2012apr"> 2012apr (hg18/hg19) (5 populations: AMR,AFR,ASN,CEU,ALL) </option> + <option value="1000g2012feb"> 2012feb (hg19) (1 population: ALL) </option> + <option value="1000g2010nov"> 2010nov (hg19) (1 population: ALL) </option> + <option value="1000g2010jul"> 2010jul (hg18) (4 populations: YRI,JPT,CHB,CEU)</option> + </param> + <!-- + <param name="g1000" type="boolean" checked="True" truevalue="Y" falsevalue="N" label="Annotate with 1000genomes project? (version 2012april)"/> + --> + + + <param name="esp" type="select" label="Select Exome Variant Server version(s) to annotate with" multiple="true" display="checkboxes" optional="true" help="si versions of databases contain indels and chrY calls"> + <option value="esp6500si_all" > ESP6500si ALL </option> + <option value="esp6500si_ea" > ESP6500si European Americans </option> + <option value="esp6500si_aa" > ESP6500si African Americans </option> + <option value="esp6500_all" > ESP6500 ALL </option> + <option value="esp6500_ea" > ESP6500 European Americans </option> + <option value="esp6500_aa" > ESP6500 African Americans </option> + <option value="esp5400_all" > ESP5400 ALL </option> + <option value="esp5400_ea" > ESP5400 European Americans </option> + <option value="esp5400_aa" > ESP5400 African Americans </option> + </param> + + + <param name="gerp" type="boolean" checked="False" truevalue="Y" falsevalue="N" label="GERP++ Annotation?" help="GERP identifies constrained elements in multiple alignments by quantifying substitution deficits (see http://mendel.stanford.edu/SidowLab/downloads/gerp/ for details) This option annotates those variants having GERP++>2 in human genome, as this threshold is typically regarded as evolutionarily conserved and potentially functional"/> + + <param name="cgfortysix" type="boolean" checked="False" truevalue="Y" falsevalue="N" label="Complete Genomics 46 Genomes?" help="Diversity Panel; 46 unrelated individuals"/> + <param name="cgsixtynine" type="boolean" checked="False" truevalue="Y" falsevalue="N" label="Complete Genomics 69 Genomes?" help="Diversity Panel, Pedigree, YRI trio and PUR trio"/> + <param name="cosmic61" type="boolean" checked="False" truevalue="Y" falsevalue="N" label="Annotate with COSMIC61? (hg19 only)"/> + <param name="cosmic63" type="boolean" checked="False" truevalue="Y" falsevalue="N" label="Annotate with COSMIC63? (hg19 only)"/> + <param name="cosmic64" type="boolean" checked="False" truevalue="Y" falsevalue="N" label="Annotate with COSMIC64? (hg19 only)"/> + <param name="cosmic65" type="boolean" checked="False" truevalue="Y" falsevalue="N" label="Annotate with COSMIC65? (hg19 only)"/> + +<param name="impactscores" type="select" label="Select functional impact scores annotate with" multiple="true" display="checkboxes" optional="true" help="LJB refers to Liu, Jian, Boerwinkle paper in Human Mutation, pubmed ID 21520341."> + <option value="avsift"> AV SIFT </option> + <option value="ljbsift"> LJB SIFT (corresponds to 1-SIFT)</option> + <option value="pp2"> PolyPhen2 </option> + <option value="mutationtaster" > MutationTaster </option> + <option value="lrt"> LRT (Likelihood Ratio Test) </option> + <option value="phylop"> PhyloP </option> + </param> + + + <!-- prefix for output file so you dont have to manually rename history items --> + <param name="fname" type="text" value="" label="Prefix for your output file" help="Optional"/> + + </inputs> + + <outputs> + <data format="tabular" name="invalid" label="$fname ANNOVAR Invalid input on ${on_string}"/> + <data format="tabular" name="annotated" label="$fname ANNOVAR Annotated variants on ${on_string}"/> + </outputs> + + <help> +**What it does** + +This tool will annotate a file using ANNOVAR. + +**ANNOVAR Website and Documentation** + +Website: http://www.openbioinformatics.org/annovar/ + +Paper: http://nar.oxfordjournals.org/content/38/16/e164 + +**Input Formats** + +Input Formats may be one of the following: + + VCF file + + Complete Genomics varfile + + Custom tab-delimited file (specify chromosome, start, end, reference allele, observed allele columns) + + Custom tab-delimited CG-derived file (specify chromosome, start, end, reference allele, observed allele, varType columns) + + </help> + +</tool> + +