1##fileformat=VCFv4.2 2##contig=<ID=chr1,length=248956422> 3##FORMAT=<ID=GT,Number=1,Type=String,Description="Consensus Genotype across all datasets with called genotype"> 4##INFO=<ID=ANN,Number=.,Type=String,Description="Consequence annotations from Ensembl VEP. Format: Allele|Consequence|IMPACT|SYMBOL|Gene|Feature_type|Feature|BIOTYPE|EXON|INTRON|HGVSc|HGVSp|cDNA_position|CDS_position|Protein_position|Amino_acids|Codons|Existing_variation|DISTANCE|STRAND|FLAGS|VARIANT_CLASS|SYMBOL_SOURCE|HGNC_ID|CANONICAL|MANE|TSL|APPRIS|CCDS|ENSP|SWISSPROT|TREMBL|UNIPARC|GENE_PHENO|SIFT|PolyPhen|DOMAINS|miRNA|HGVS_OFFSET|AF|AFR_AF|AMR_AF|EAS_AF|EUR_AF|SAS_AF|AA_AF|EA_AF|gnomAD_AF|gnomAD_AFR_AF|gnomAD_AMR_AF|gnomAD_ASJ_AF|gnomAD_EAS_AF|gnomAD_FIN_AF|gnomAD_NFE_AF|gnomAD_OTH_AF|gnomAD_SAS_AF|MAX_AF|MAX_AF_POPS|CLIN_SIG|SOMATIC|PHENO|PUBMED|MOTIF_NAME|MOTIF_POS|HIGH_INF_POS|MOTIF_SCORE_CHANGE|LoFtool"> 5#CHROM POS ID REF ALT QUAL FILTER INFO FORMAT HG001 6chr1 817186 . G A 50 PASS ANN=A|upstream_gene_variant|MODIFIER|FAM87B|ENSG00000177757|Transcript|ENST00000326734|lncRNA||||||||||rs3094315|185|1||SNV|HGNC|HGNC:32236|YES||2||||||||||||||0.3873|0.804|0.8839|0.84|0.8088||||||||||||0.8839|EAS||||21159730&21492446&23664118&19096721|||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|AL669831.4|ENSG00000230092|Transcript|ENST00000447500|processed_transcript||1/4|ENST00000447500.4:n.340+187C>T|||||||rs3094315||-1||SNV|Clone_based_ensembl_gene||YES||5||||||||||||||0.3873|0.804|0.8839|0.84|0.8088||||||||||||0.8839|EAS||||21159730&21492446&23664118&19096721|||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|AL669831.3|ENSG00000230021|Transcript|ENST00000634337|processed_transcript||1/4|ENST00000634337.2:n.127+10484C>T|||||||rs3094315||-1||SNV|Clone_based_ensembl_gene||||5||||||||||||||0.3873|0.804|0.8839|0.84|0.8088||||||||||||0.8839|EAS||||21159730&21492446&23664118&19096721|||||,A|intron_variant&non_coding_transcript_variant|MODIFIER|AL669831.3|ENSG00000230021|Transcript|ENST00000635509|processed_transcript||1/3|ENST00000635509.2:n.100+10484C>T|||||||rs3094315||-1||SNV|Clone_based_ensembl_gene||||5||||||||||||||0.3873|0.804|0.8839|0.84|0.8088||||||||||||0.8839|EAS||||21159730&21492446&23664118&19096721|||||,A|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000000085|promoter||||||||||rs3094315||||SNV|||||||||||||||||||0.3873|0.804|0.8839|0.84|0.8088||||||||||||0.8839|EAS||||21159730&21492446&23664118&19096721||||| GT 1|1 7