[[annotation]] file="ExAC.r0.3.sites.vep.tidy.vcf.gz" fields = ["AN_Adj", "AC_Adj", "AN_Adj", "AC_AFR", "AN_AFR", "AC_AMR", "AN_AMR", "AC_EAS", "AN_EAS", "AC_FIN", "AN_FIN", "AC_NFE", "AN_NFE", "AC_OTH", "AN_OTH", "AC_SAS", "AN_SAS"] names = ["in_exac_flag", "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"] ops=["flag", "self", "self", "self", "self", "self", "self", "self", "self", "self", "self", "self", "self", "self", "self", "self", "self"] [[annotation]] file="ALL.wgs.phase3_shapeit2_mvncall_integrated_v5a.20130502.sites.tidy.vcf.gz" fields=["AF", "AMR_AF", "EAS_AF", "SAS_AF", "AFR_AF", "EUR_AF", "AF"] names=["in_1kg_flag", "aaf_1kg_amr_float", "aaf_1kg_eas_float", "aaf_1kg_sas_float", "aaf_1kg_afr_float", "aaf_1kg_eur_float", "aaf_1kg_all_float"] ops=["flag", "self", "self", "self", "self", "self", "self"] [[annotation]] file="clinvar_20150305.tidy.vcf.gz" fields=["CLNSIG"] names=["clinvar_pathogenic"] ops=["self"] [[postannotation]] fields=["clinvar_pathogenic"] op="lua:clinvar_sig(clinvar_pathogenic)" name="clinvar_sig" type="String" [[annotation]] file="cosmic-v68-GRCh37.tidy.vcf.gz" fields=["ID"] names=["cosmic_ids"] ops=["concat"] [[annotation]] file="dbsnp.b141.20140813.hg19.tidy.vcf.gz" fields=["ID"] names=["rs_ids"] ops=["concat"] [[annotation]] file="hg19_fitcons_fc-i6-0_V1-01.bed.gz" columns=[4] names=["fitcons_float"] ops=["mean"] [[annotation]] file="ESP6500SI.all.snps_indels.tidy.v2.vcf.gz" fields=["TAC", "EA_AC", "AA_AC", "TAC", "EXOME_CHIP"] names=["in_esp_flag", "aaf_esp_ea_float", "aaf_esp_aa_float", "aaf_esp_all_float", "EXOME_CHIP_flag"] ops=["flag", "lua:ratio(vals)", "lua:ratio(vals)", "lua:ratio(vals)", "flag"] #[[annotation]] #file="LCR-hs37d5.bed.gz" #names=["LCR"] #columns=[2] #ops=["flag"] # #[[annotation]] #http://humanparalogy.gs.washington.edu/build37/build37.htm # wget -O - http://humanparalogy.gs.washington.edu/build37/data/GRCh37GenomicSuperDup.tab \ # | tail -n+2 \ # | grep -Pv "_gl00|_random|chrUn" | sort -k1,1V -k2,2n | bgzip -c > GRCh37GenomicSuperDup.tab.gz #file="GRCh37GenomicSuperDup.tab.gz" #names=["superdup"] #columns=[2] #ops=["flag"] [[annotation]] file="encode.6celltypes.consensus.bedg.gz" #chrom start end gm12878 h1hesc helas3 hepg2 huvec k562 columns=[4,5,6,7,8,9] ops=["concat","concat", "concat", "concat", "concat", "concat"] names=[ "encode_consensus_gm12878", "encode_consensus_h1hesc", "encode_consensus_helas3", "encode_consensus_hepg2", "encode_consensus_huvec", "encode_consensus_k562"] [[annotation]] file="hg19.gwas.bed.gz" columns=[4] names=["gwas_pubmed_trait"] ops=["concat"] [[annotation]] file="hg19.rmsk.bed.gz" columns=[4] names=["rmsk"] ops=["concat"] [[annotation]] file="hg19.gerp.elements.bed.gz" columns=[4] names=["gerp_elements"] ops=["mean"] [[annotation]] file="hg19.CpG.bed.gz" columns=[2] names=["cpg_island"] ops=["flag"] [[annotation]] file="hg19.dgv.bed.gz" columns=[4] names=["dgv"] ops=["concat"] [[annotation]] file="wgEncodeRegTfbsClusteredV2.cell_count.20130213.bed.gz" columns=[4] names=["tfbs"] ops=["concat"] [[annotation]] file="genetic_map_HapMapII_GRCh37.gz" columns=[4, 5] ops=["mean", "mean"] names=["hapmap1", "hapmap2"] [[annotation]] file="stam.125cells.dnaseI.hg19.bed.gz" columns=[5, 6] ops=["mean", "concat"] names=["stam_mean", "stam_names"] [[annotation]] file="cse-hiseq-8_4-2013-02-20.bed.gz" columns=[2] ops=["flag"] names=["cse-hiseq"] [[postannotation]] ## a list of all fields required by the op below. fields=["ac_exac_all", "an_exac_all"] op="lua:div2(ac_exac_all, an_exac_all)" name="exac_all_aaf" type="Float"