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sample1.hg19_multianno.vcf
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sample1.hg19_multianno.vcf
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##fileformat=VCFv4.2
##FILTER=<ID=PASS,Description="All filters passed">
##FILTER=<ID=LowQual,Description="Low quality">
##FORMAT=<ID=AD,Number=.,Type=Integer,Description="Allelic depths for the ref and alt alleles in the order listed">
##FORMAT=<ID=DP,Number=1,Type=Integer,Description="Read depth">
##FORMAT=<ID=GQ,Number=1,Type=Integer,Description="Genotype quality">
##FORMAT=<ID=GT,Number=1,Type=String,Description="Genotype">
##FORMAT=<ID=PL,Number=G,Type=Integer,Description="The phred-scaled genotype likelihoods rounded to the closest integer">
##INFO=<ID=AC,Number=A,Type=Integer,Description="Allele count in genotypes, for each ALT allele, in the same order as listed">
##INFO=<ID=AF,Number=A,Type=Float,Description="Allele frequency, for each ALT allele, in the same order as listed">
##INFO=<ID=AN,Number=1,Type=Integer,Description="Total number of alleles in called genotypes">
##INFO=<ID=BaseQRankSum,Number=1,Type=Float,Description="Z-score from Wilcoxon rank sum test of Alt Vs. Ref base qualities">
##INFO=<ID=ClippingRankSum,Number=1,Type=Float,Description="Z-score From Wilcoxon rank sum test of Alt vs. Ref number of hard clipped bases">
##INFO=<ID=DB,Number=0,Type=Flag,Description="dbSNP membership">
##INFO=<ID=DP,Number=1,Type=Integer,Description="Combined depth across samples">
##INFO=<ID=ExcessHet,Number=1,Type=Float,Description="Phred-scaled p-value for exact test of excess heterozygosity">
##INFO=<ID=FS,Number=1,Type=Float,Description="Phred-scaled p-value using Fisher's exact test to detect strand bias">
##INFO=<ID=InbreedingCoeff,Number=1,Type=Float,Description="Inbreeding coefficient as estimated from the genotype likelihoods per-sample when compared against the Hardy-Weinberg expectation">
##INFO=<ID=MLEAC,Number=A,Type=Integer,Description="Maximum likelihood expectation (MLE) for the allele counts, for each ALT allele, in the same order as listed">
##INFO=<ID=MLEAF,Number=A,Type=Float,Description="Maximum likelihood expectation (MLE) for the allele frequency, for each ALT allele, in the same order as listed">
##INFO=<ID=MQ,Number=1,Type=Float,Description="RMS mapping quality">
##INFO=<ID=MQRankSum,Number=1,Type=Float,Description="Z-score From Wilcoxon rank sum test of Alt vs. Ref read mapping qualities">
##INFO=<ID=QD,Number=1,Type=Float,Description="Variant Confidence/Quality by Depth">
##INFO=<ID=ReadPosRankSum,Number=1,Type=Float,Description="Z-score from Wilcoxon rank sum test of Alt vs. Ref read position bias">
##INFO=<ID=SOR,Number=1,Type=Float,Description="Symmetric Odds Ratio of 2x2 contingency table to detect strand bias">
##SentieonCommandLine.Haplotyper=<ID=Haplotyper,Version="sentieon-genomics-201808",Date="2018-10-13T09:09:30Z",CommandLine="/home/u2/u3365865/bin/sentieon-genomics-201808/libexec/driver -r /home/u2/u3365865/biobank/run_tbb_sentieon/Reference/ref_hg19/ucsc.hg19.fasta -t 32 -i NGS2_20150101A.realigned.bam -q NGS2_20150101A.recal_data.table --algo Haplotyper -d /home/u2/u3365865/biobank/run_tbb_sentieon/Reference/ref_hg19/dbsnp_138.hg19.vcf --emit_conf=10 --call_conf=30 NGS2_20150101A.output-hc.vcf.gz">
##contig=<ID=chrM,length=16571,assembly=hg19>
##contig=<ID=chr1,length=249250621,assembly=hg19>
##contig=<ID=chr2,length=243199373,assembly=hg19>
##contig=<ID=chr3,length=198022430,assembly=hg19>
##contig=<ID=chr4,length=191154276,assembly=hg19>
##contig=<ID=chr5,length=180915260,assembly=hg19>
##contig=<ID=chr6,length=171115067,assembly=hg19>
##contig=<ID=chr7,length=159138663,assembly=hg19>
##contig=<ID=chr8,length=146364022,assembly=hg19>
##contig=<ID=chr9,length=141213431,assembly=hg19>
##contig=<ID=chr10,length=135534747,assembly=hg19>
##contig=<ID=chr11,length=135006516,assembly=hg19>
##contig=<ID=chr12,length=133851895,assembly=hg19>
##contig=<ID=chr13,length=115169878,assembly=hg19>
##contig=<ID=chr14,length=107349540,assembly=hg19>
##contig=<ID=chr15,length=102531392,assembly=hg19>
##contig=<ID=chr16,length=90354753,assembly=hg19>
##contig=<ID=chr17,length=81195210,assembly=hg19>
##contig=<ID=chr18,length=78077248,assembly=hg19>
##contig=<ID=chr19,length=59128983,assembly=hg19>
##contig=<ID=chr20,length=63025520,assembly=hg19>
##contig=<ID=chr21,length=48129895,assembly=hg19>
##contig=<ID=chr22,length=51304566,assembly=hg19>
##contig=<ID=chrX,length=155270560,assembly=hg19>
##contig=<ID=chrY,length=59373566,assembly=hg19>
##contig=<ID=chr1_gl000191_random,length=106433,assembly=hg19>
##contig=<ID=chr1_gl000192_random,length=547496,assembly=hg19>
##contig=<ID=chr4_ctg9_hap1,length=590426,assembly=hg19>
##contig=<ID=chr4_gl000193_random,length=189789,assembly=hg19>
##contig=<ID=chr4_gl000194_random,length=191469,assembly=hg19>
##contig=<ID=chr6_apd_hap1,length=4622290,assembly=hg19>
##contig=<ID=chr6_cox_hap2,length=4795371,assembly=hg19>
##contig=<ID=chr6_dbb_hap3,length=4610396,assembly=hg19>
##contig=<ID=chr6_mann_hap4,length=4683263,assembly=hg19>
##contig=<ID=chr6_mcf_hap5,length=4833398,assembly=hg19>
##contig=<ID=chr6_qbl_hap6,length=4611984,assembly=hg19>
##contig=<ID=chr6_ssto_hap7,length=4928567,assembly=hg19>
##contig=<ID=chr7_gl000195_random,length=182896,assembly=hg19>
##contig=<ID=chr8_gl000196_random,length=38914,assembly=hg19>
##contig=<ID=chr8_gl000197_random,length=37175,assembly=hg19>
##contig=<ID=chr9_gl000198_random,length=90085,assembly=hg19>
##contig=<ID=chr9_gl000199_random,length=169874,assembly=hg19>
##contig=<ID=chr9_gl000200_random,length=187035,assembly=hg19>
##contig=<ID=chr9_gl000201_random,length=36148,assembly=hg19>
##contig=<ID=chr11_gl000202_random,length=40103,assembly=hg19>
##contig=<ID=chr17_ctg5_hap1,length=1680828,assembly=hg19>
##contig=<ID=chr17_gl000203_random,length=37498,assembly=hg19>
##contig=<ID=chr17_gl000204_random,length=81310,assembly=hg19>
##contig=<ID=chr17_gl000205_random,length=174588,assembly=hg19>
##contig=<ID=chr17_gl000206_random,length=41001,assembly=hg19>
##contig=<ID=chr18_gl000207_random,length=4262,assembly=hg19>
##contig=<ID=chr19_gl000208_random,length=92689,assembly=hg19>
##contig=<ID=chr19_gl000209_random,length=159169,assembly=hg19>
##contig=<ID=chr21_gl000210_random,length=27682,assembly=hg19>
##contig=<ID=chrUn_gl000211,length=166566,assembly=hg19>
##contig=<ID=chrUn_gl000212,length=186858,assembly=hg19>
##contig=<ID=chrUn_gl000213,length=164239,assembly=hg19>
##contig=<ID=chrUn_gl000214,length=137718,assembly=hg19>
##contig=<ID=chrUn_gl000215,length=172545,assembly=hg19>
##contig=<ID=chrUn_gl000216,length=172294,assembly=hg19>
##contig=<ID=chrUn_gl000217,length=172149,assembly=hg19>
##contig=<ID=chrUn_gl000218,length=161147,assembly=hg19>
##contig=<ID=chrUn_gl000219,length=179198,assembly=hg19>
##contig=<ID=chrUn_gl000220,length=161802,assembly=hg19>
##contig=<ID=chrUn_gl000221,length=155397,assembly=hg19>
##contig=<ID=chrUn_gl000222,length=186861,assembly=hg19>
##contig=<ID=chrUn_gl000223,length=180455,assembly=hg19>
##contig=<ID=chrUn_gl000224,length=179693,assembly=hg19>
##contig=<ID=chrUn_gl000225,length=211173,assembly=hg19>
##contig=<ID=chrUn_gl000226,length=15008,assembly=hg19>
##contig=<ID=chrUn_gl000227,length=128374,assembly=hg19>
##contig=<ID=chrUn_gl000228,length=129120,assembly=hg19>
##contig=<ID=chrUn_gl000229,length=19913,assembly=hg19>
##contig=<ID=chrUn_gl000230,length=43691,assembly=hg19>
##contig=<ID=chrUn_gl000231,length=27386,assembly=hg19>
##contig=<ID=chrUn_gl000232,length=40652,assembly=hg19>
##contig=<ID=chrUn_gl000233,length=45941,assembly=hg19>
##contig=<ID=chrUn_gl000234,length=40531,assembly=hg19>
##contig=<ID=chrUn_gl000235,length=34474,assembly=hg19>
##contig=<ID=chrUn_gl000236,length=41934,assembly=hg19>
##contig=<ID=chrUn_gl000237,length=45867,assembly=hg19>
##contig=<ID=chrUn_gl000238,length=39939,assembly=hg19>
##contig=<ID=chrUn_gl000239,length=33824,assembly=hg19>
##contig=<ID=chrUn_gl000240,length=41933,assembly=hg19>
##contig=<ID=chrUn_gl000241,length=42152,assembly=hg19>
##contig=<ID=chrUn_gl000242,length=43523,assembly=hg19>
##contig=<ID=chrUn_gl000243,length=43341,assembly=hg19>
##contig=<ID=chrUn_gl000244,length=39929,assembly=hg19>
##contig=<ID=chrUn_gl000245,length=36651,assembly=hg19>
##contig=<ID=chrUn_gl000246,length=38154,assembly=hg19>
##contig=<ID=chrUn_gl000247,length=36422,assembly=hg19>
##contig=<ID=chrUn_gl000248,length=39786,assembly=hg19>
##contig=<ID=chrUn_gl000249,length=38502,assembly=hg19>
##reference=file:///home/u2/u3365865/biobank/run_tbb_sentieon/Reference/ref_hg19/ucsc.hg19.fasta
##INFO=<ID=OLD_MULTIALLELIC,Number=1,Type=String,Description="Original chr:pos:ref:alt encoding">
##INFO=<ID=OLD_VARIANT,Number=.,Type=String,Description="Original chr:pos:ref:alt encoding">
##INFO=<ID=ANNOVAR_DATE,Number=1,Type=String,Description="Flag the start of ANNOVAR annotation for one alternative allele">
##INFO=<ID=Func.refGene,Number=.,Type=String,Description="Func.refGene annotation provided by ANNOVAR">
##INFO=<ID=Gene.refGene,Number=.,Type=String,Description="Gene.refGene annotation provided by ANNOVAR">
##INFO=<ID=GeneDetail.refGene,Number=.,Type=String,Description="GeneDetail.refGene annotation provided by ANNOVAR">
##INFO=<ID=ExonicFunc.refGene,Number=.,Type=String,Description="ExonicFunc.refGene annotation provided by ANNOVAR">
##INFO=<ID=AAChange.refGene,Number=.,Type=String,Description="AAChange.refGene annotation provided by ANNOVAR">
##INFO=<ID=Func.knownGene,Number=.,Type=String,Description="Func.knownGene annotation provided by ANNOVAR">
##INFO=<ID=Gene.knownGene,Number=.,Type=String,Description="Gene.knownGene annotation provided by ANNOVAR">
##INFO=<ID=GeneDetail.knownGene,Number=.,Type=String,Description="GeneDetail.knownGene annotation provided by ANNOVAR">
##INFO=<ID=ExonicFunc.knownGene,Number=.,Type=String,Description="ExonicFunc.knownGene annotation provided by ANNOVAR">
##INFO=<ID=AAChange.knownGene,Number=.,Type=String,Description="AAChange.knownGene annotation provided by ANNOVAR">
##INFO=<ID=Func.ensGene,Number=.,Type=String,Description="Func.ensGene annotation provided by ANNOVAR">
##INFO=<ID=Gene.ensGene,Number=.,Type=String,Description="Gene.ensGene annotation provided by ANNOVAR">
##INFO=<ID=GeneDetail.ensGene,Number=.,Type=String,Description="GeneDetail.ensGene annotation provided by ANNOVAR">
##INFO=<ID=ExonicFunc.ensGene,Number=.,Type=String,Description="ExonicFunc.ensGene annotation provided by ANNOVAR">
##INFO=<ID=AAChange.ensGene,Number=.,Type=String,Description="AAChange.ensGene annotation provided by ANNOVAR">
##INFO=<ID=avsnp150,Number=.,Type=String,Description="avsnp150 annotation provided by ANNOVAR">
##INFO=<ID=CLNALLELEID,Number=.,Type=String,Description="CLNALLELEID annotation provided by ANNOVAR">
##INFO=<ID=CLNDN,Number=.,Type=String,Description="CLNDN annotation provided by ANNOVAR">
##INFO=<ID=CLNDISDB,Number=.,Type=String,Description="CLNDISDB annotation provided by ANNOVAR">
##INFO=<ID=CLNREVSTAT,Number=.,Type=String,Description="CLNREVSTAT annotation provided by ANNOVAR">
##INFO=<ID=CLNSIG,Number=.,Type=String,Description="CLNSIG annotation provided by ANNOVAR">
##INFO=<ID=gnomAD_exome_ALL,Number=.,Type=String,Description="gnomAD_exome_ALL annotation provided by ANNOVAR">
##INFO=<ID=gnomAD_exome_AFR,Number=.,Type=String,Description="gnomAD_exome_AFR annotation provided by ANNOVAR">
##INFO=<ID=gnomAD_exome_AMR,Number=.,Type=String,Description="gnomAD_exome_AMR annotation provided by ANNOVAR">
##INFO=<ID=gnomAD_exome_ASJ,Number=.,Type=String,Description="gnomAD_exome_ASJ annotation provided by ANNOVAR">
##INFO=<ID=gnomAD_exome_EAS,Number=.,Type=String,Description="gnomAD_exome_EAS annotation provided by ANNOVAR">
##INFO=<ID=gnomAD_exome_FIN,Number=.,Type=String,Description="gnomAD_exome_FIN annotation provided by ANNOVAR">
##INFO=<ID=gnomAD_exome_NFE,Number=.,Type=String,Description="gnomAD_exome_NFE annotation provided by ANNOVAR">
##INFO=<ID=gnomAD_exome_OTH,Number=.,Type=String,Description="gnomAD_exome_OTH annotation provided by ANNOVAR">
##INFO=<ID=gnomAD_exome_SAS,Number=.,Type=String,Description="gnomAD_exome_SAS annotation provided by ANNOVAR">
##INFO=<ID=gnomAD_genome_ALL,Number=.,Type=String,Description="gnomAD_genome_ALL annotation provided by ANNOVAR">
##INFO=<ID=gnomAD_genome_AFR,Number=.,Type=String,Description="gnomAD_genome_AFR annotation provided by ANNOVAR">
##INFO=<ID=gnomAD_genome_AMR,Number=.,Type=String,Description="gnomAD_genome_AMR annotation provided by ANNOVAR">
##INFO=<ID=gnomAD_genome_ASJ,Number=.,Type=String,Description="gnomAD_genome_ASJ annotation provided by ANNOVAR">
##INFO=<ID=gnomAD_genome_EAS,Number=.,Type=String,Description="gnomAD_genome_EAS annotation provided by ANNOVAR">
##INFO=<ID=gnomAD_genome_FIN,Number=.,Type=String,Description="gnomAD_genome_FIN annotation provided by ANNOVAR">
##INFO=<ID=gnomAD_genome_NFE,Number=.,Type=String,Description="gnomAD_genome_NFE annotation provided by ANNOVAR">
##INFO=<ID=gnomAD_genome_OTH,Number=.,Type=String,Description="gnomAD_genome_OTH annotation provided by ANNOVAR">
##INFO=<ID=ExAC_ALL,Number=.,Type=String,Description="ExAC_ALL annotation provided by ANNOVAR">
##INFO=<ID=ExAC_AFR,Number=.,Type=String,Description="ExAC_AFR annotation provided by ANNOVAR">
##INFO=<ID=ExAC_AMR,Number=.,Type=String,Description="ExAC_AMR annotation provided by ANNOVAR">
##INFO=<ID=ExAC_EAS,Number=.,Type=String,Description="ExAC_EAS annotation provided by ANNOVAR">
##INFO=<ID=ExAC_FIN,Number=.,Type=String,Description="ExAC_FIN annotation provided by ANNOVAR">
##INFO=<ID=ExAC_NFE,Number=.,Type=String,Description="ExAC_NFE annotation provided by ANNOVAR">
##INFO=<ID=ExAC_OTH,Number=.,Type=String,Description="ExAC_OTH annotation provided by ANNOVAR">
##INFO=<ID=ExAC_SAS,Number=.,Type=String,Description="ExAC_SAS annotation provided by ANNOVAR">
##INFO=<ID=ExAC_nontcga_ALL,Number=.,Type=String,Description="ExAC_nontcga_ALL annotation provided by ANNOVAR">
##INFO=<ID=ExAC_nontcga_AFR,Number=.,Type=String,Description="ExAC_nontcga_AFR annotation provided by ANNOVAR">
##INFO=<ID=ExAC_nontcga_AMR,Number=.,Type=String,Description="ExAC_nontcga_AMR annotation provided by ANNOVAR">
##INFO=<ID=ExAC_nontcga_EAS,Number=.,Type=String,Description="ExAC_nontcga_EAS annotation provided by ANNOVAR">
##INFO=<ID=ExAC_nontcga_FIN,Number=.,Type=String,Description="ExAC_nontcga_FIN annotation provided by ANNOVAR">
##INFO=<ID=ExAC_nontcga_NFE,Number=.,Type=String,Description="ExAC_nontcga_NFE annotation provided by ANNOVAR">
##INFO=<ID=ExAC_nontcga_OTH,Number=.,Type=String,Description="ExAC_nontcga_OTH annotation provided by ANNOVAR">
##INFO=<ID=ExAC_nontcga_SAS,Number=.,Type=String,Description="ExAC_nontcga_SAS annotation provided by ANNOVAR">
##INFO=<ID=ExAC_nonpsych_ALL,Number=.,Type=String,Description="ExAC_nonpsych_ALL annotation provided by ANNOVAR">
##INFO=<ID=ExAC_nonpsych_AFR,Number=.,Type=String,Description="ExAC_nonpsych_AFR annotation provided by ANNOVAR">
##INFO=<ID=ExAC_nonpsych_AMR,Number=.,Type=String,Description="ExAC_nonpsych_AMR annotation provided by ANNOVAR">
##INFO=<ID=ExAC_nonpsych_EAS,Number=.,Type=String,Description="ExAC_nonpsych_EAS annotation provided by ANNOVAR">
##INFO=<ID=ExAC_nonpsych_FIN,Number=.,Type=String,Description="ExAC_nonpsych_FIN annotation provided by ANNOVAR">
##INFO=<ID=ExAC_nonpsych_NFE,Number=.,Type=String,Description="ExAC_nonpsych_NFE annotation provided by ANNOVAR">
##INFO=<ID=ExAC_nonpsych_OTH,Number=.,Type=String,Description="ExAC_nonpsych_OTH annotation provided by ANNOVAR">
##INFO=<ID=ExAC_nonpsych_SAS,Number=.,Type=String,Description="ExAC_nonpsych_SAS annotation provided by ANNOVAR">
##INFO=<ID=1000g2015aug_all,Number=1,Type=Float,Description="1000g2015aug_all annotation provided by ANNOVAR">
##INFO=<ID=1000g2015aug_eas,Number=1,Type=Float,Description="1000g2015aug_eas annotation provided by ANNOVAR">
##INFO=<ID=1000g2015aug_afr,Number=1,Type=Float,Description="1000g2015aug_afr annotation provided by ANNOVAR">
##INFO=<ID=1000g2015aug_amr,Number=1,Type=Float,Description="1000g2015aug_amr annotation provided by ANNOVAR">
##INFO=<ID=1000g2015aug_sas,Number=1,Type=Float,Description="1000g2015aug_sas annotation provided by ANNOVAR">
##INFO=<ID=1000g2015aug_eur,Number=1,Type=Float,Description="1000g2015aug_eur annotation provided by ANNOVAR">
##INFO=<ID=esp6500siv2_ea,Number=1,Type=Float,Description="esp6500siv2_ea annotation provided by ANNOVAR">
##INFO=<ID=esp6500siv2_aa,Number=1,Type=Float,Description="esp6500siv2_aa annotation provided by ANNOVAR">
##INFO=<ID=esp6500siv2_all,Number=1,Type=Float,Description="esp6500siv2_all annotation provided by ANNOVAR">
##INFO=<ID=Kaviar_AF,Number=.,Type=String,Description="Kaviar_AF annotation provided by ANNOVAR">
##INFO=<ID=Kaviar_AC,Number=.,Type=String,Description="Kaviar_AC annotation provided by ANNOVAR">
##INFO=<ID=Kaviar_AN,Number=.,Type=String,Description="Kaviar_AN annotation provided by ANNOVAR">
##INFO=<ID=HRC_AF,Number=.,Type=String,Description="HRC_AF annotation provided by ANNOVAR">
##INFO=<ID=HRC_AC,Number=.,Type=String,Description="HRC_AC annotation provided by ANNOVAR">
##INFO=<ID=HRC_AN,Number=.,Type=String,Description="HRC_AN annotation provided by ANNOVAR">
##INFO=<ID=HRC_non1000G_AF,Number=.,Type=String,Description="HRC_non1000G_AF annotation provided by ANNOVAR">
##INFO=<ID=HRC_non1000G_AC,Number=.,Type=String,Description="HRC_non1000G_AC annotation provided by ANNOVAR">
##INFO=<ID=HRC_non1000G_AN,Number=.,Type=String,Description="HRC_non1000G_AN annotation provided by ANNOVAR">
##INFO=<ID=abraom_freq,Number=.,Type=String,Description="abraom_freq annotation provided by ANNOVAR">
##INFO=<ID=abraom_filter,Number=.,Type=String,Description="abraom_filter annotation provided by ANNOVAR">
##INFO=<ID=abraom_cegh_filter,Number=.,Type=String,Description="abraom_cegh_filter annotation provided by ANNOVAR">
##INFO=<ID=GME_AF,Number=.,Type=String,Description="GME_AF annotation provided by ANNOVAR">
##INFO=<ID=GME_NWA,Number=.,Type=String,Description="GME_NWA annotation provided by ANNOVAR">
##INFO=<ID=GME_NEA,Number=.,Type=String,Description="GME_NEA annotation provided by ANNOVAR">
##INFO=<ID=GME_AP,Number=.,Type=String,Description="GME_AP annotation provided by ANNOVAR">
##INFO=<ID=GME_Israel,Number=.,Type=String,Description="GME_Israel annotation provided by ANNOVAR">
##INFO=<ID=GME_SD,Number=.,Type=String,Description="GME_SD annotation provided by ANNOVAR">
##INFO=<ID=GME_TP,Number=.,Type=String,Description="GME_TP annotation provided by ANNOVAR">
##INFO=<ID=GME_CA,Number=.,Type=String,Description="GME_CA annotation provided by ANNOVAR">
##INFO=<ID=cg46,Number=1,Type=Float,Description="cg46 annotation provided by ANNOVAR">
##INFO=<ID=cg69,Number=1,Type=Float,Description="cg69 annotation provided by ANNOVAR">
##INFO=<ID=cosmic70,Number=.,Type=String,Description="cosmic70 annotation provided by ANNOVAR">
##INFO=<ID=nci60,Number=1,Type=Float,Description="nci60 annotation provided by ANNOVAR">
##INFO=<ID=ICGC_Id,Number=.,Type=String,Description="ICGC_Id annotation provided by ANNOVAR">
##INFO=<ID=ICGC_Occurrence,Number=.,Type=String,Description="ICGC_Occurrence annotation provided by ANNOVAR">
##INFO=<ID=SIFT_score,Number=.,Type=String,Description="SIFT_score annotation provided by ANNOVAR">
##INFO=<ID=SIFT_converted_rankscore,Number=.,Type=String,Description="SIFT_converted_rankscore annotation provided by ANNOVAR">
##INFO=<ID=SIFT_pred,Number=.,Type=String,Description="SIFT_pred annotation provided by ANNOVAR">
##INFO=<ID=LRT_score,Number=.,Type=String,Description="LRT_score annotation provided by ANNOVAR">
##INFO=<ID=LRT_converted_rankscore,Number=.,Type=String,Description="LRT_converted_rankscore annotation provided by ANNOVAR">
##INFO=<ID=LRT_pred,Number=.,Type=String,Description="LRT_pred annotation provided by ANNOVAR">
##INFO=<ID=MutationTaster_score,Number=.,Type=String,Description="MutationTaster_score annotation provided by ANNOVAR">
##INFO=<ID=MutationTaster_converted_rankscore,Number=.,Type=String,Description="MutationTaster_converted_rankscore annotation provided by ANNOVAR">
##INFO=<ID=MutationTaster_pred,Number=.,Type=String,Description="MutationTaster_pred annotation provided by ANNOVAR">
##INFO=<ID=MutationAssessor_score,Number=.,Type=String,Description="MutationAssessor_score annotation provided by ANNOVAR">
##INFO=<ID=MutationAssessor_score_rankscore,Number=.,Type=String,Description="MutationAssessor_score_rankscore annotation provided by ANNOVAR">
##INFO=<ID=MutationAssessor_pred,Number=.,Type=String,Description="MutationAssessor_pred annotation provided by ANNOVAR">
##INFO=<ID=FATHMM_score,Number=.,Type=String,Description="FATHMM_score annotation provided by ANNOVAR">
##INFO=<ID=FATHMM_converted_rankscore,Number=.,Type=String,Description="FATHMM_converted_rankscore annotation provided by ANNOVAR">
##INFO=<ID=FATHMM_pred,Number=.,Type=String,Description="FATHMM_pred annotation provided by ANNOVAR">
##INFO=<ID=PROVEAN_score,Number=.,Type=String,Description="PROVEAN_score annotation provided by ANNOVAR">
##INFO=<ID=PROVEAN_converted_rankscore,Number=.,Type=String,Description="PROVEAN_converted_rankscore annotation provided by ANNOVAR">
##INFO=<ID=PROVEAN_pred,Number=.,Type=String,Description="PROVEAN_pred annotation provided by ANNOVAR">
##INFO=<ID=MetaSVM_score,Number=.,Type=String,Description="MetaSVM_score annotation provided by ANNOVAR">
##INFO=<ID=MetaSVM_rankscore,Number=.,Type=String,Description="MetaSVM_rankscore annotation provided by ANNOVAR">
##INFO=<ID=MetaSVM_pred,Number=.,Type=String,Description="MetaSVM_pred annotation provided by ANNOVAR">
##INFO=<ID=MetaLR_score,Number=.,Type=String,Description="MetaLR_score annotation provided by ANNOVAR">
##INFO=<ID=MetaLR_rankscore,Number=.,Type=String,Description="MetaLR_rankscore annotation provided by ANNOVAR">
##INFO=<ID=MetaLR_pred,Number=.,Type=String,Description="MetaLR_pred annotation provided by ANNOVAR">
##INFO=<ID=M-CAP_score,Number=.,Type=String,Description="M-CAP_score annotation provided by ANNOVAR">
##INFO=<ID=M-CAP_rankscore,Number=.,Type=String,Description="M-CAP_rankscore annotation provided by ANNOVAR">
##INFO=<ID=M-CAP_pred,Number=.,Type=String,Description="M-CAP_pred annotation provided by ANNOVAR">
##INFO=<ID=MutPred_score,Number=.,Type=String,Description="MutPred_score annotation provided by ANNOVAR">
##INFO=<ID=MutPred_rankscore,Number=.,Type=String,Description="MutPred_rankscore annotation provided by ANNOVAR">
##INFO=<ID=fathmm-MKL_coding_score,Number=.,Type=String,Description="fathmm-MKL_coding_score annotation provided by ANNOVAR">
##INFO=<ID=fathmm-MKL_coding_rankscore,Number=.,Type=String,Description="fathmm-MKL_coding_rankscore annotation provided by ANNOVAR">
##INFO=<ID=fathmm-MKL_coding_pred,Number=.,Type=String,Description="fathmm-MKL_coding_pred annotation provided by ANNOVAR">
##INFO=<ID=Eigen_coding_or_noncoding,Number=.,Type=String,Description="Eigen_coding_or_noncoding annotation provided by ANNOVAR">
##INFO=<ID=Eigen-raw,Number=.,Type=String,Description="Eigen-raw annotation provided by ANNOVAR">
##INFO=<ID=Eigen-PC-raw,Number=.,Type=String,Description="Eigen-PC-raw annotation provided by ANNOVAR">
##INFO=<ID=GenoCanyon_score,Number=.,Type=String,Description="GenoCanyon_score annotation provided by ANNOVAR">
##INFO=<ID=GenoCanyon_score_rankscore,Number=.,Type=String,Description="GenoCanyon_score_rankscore annotation provided by ANNOVAR">
##INFO=<ID=integrated_fitCons_score,Number=.,Type=String,Description="integrated_fitCons_score annotation provided by ANNOVAR">
##INFO=<ID=integrated_fitCons_score_rankscore,Number=.,Type=String,Description="integrated_fitCons_score_rankscore annotation provided by ANNOVAR">
##INFO=<ID=integrated_confidence_value,Number=.,Type=String,Description="integrated_confidence_value annotation provided by ANNOVAR">
##INFO=<ID=GERP++_RS,Number=.,Type=String,Description="GERP++_RS annotation provided by ANNOVAR">
##INFO=<ID=GERP++_RS_rankscore,Number=.,Type=String,Description="GERP++_RS_rankscore annotation provided by ANNOVAR">
##INFO=<ID=phyloP100way_vertebrate,Number=.,Type=String,Description="phyloP100way_vertebrate annotation provided by ANNOVAR">
##INFO=<ID=phyloP100way_vertebrate_rankscore,Number=.,Type=String,Description="phyloP100way_vertebrate_rankscore annotation provided by ANNOVAR">
##INFO=<ID=phyloP20way_mammalian,Number=.,Type=String,Description="phyloP20way_mammalian annotation provided by ANNOVAR">
##INFO=<ID=phyloP20way_mammalian_rankscore,Number=.,Type=String,Description="phyloP20way_mammalian_rankscore annotation provided by ANNOVAR">
##INFO=<ID=phastCons100way_vertebrate,Number=.,Type=String,Description="phastCons100way_vertebrate annotation provided by ANNOVAR">
##INFO=<ID=phastCons100way_vertebrate_rankscore,Number=.,Type=String,Description="phastCons100way_vertebrate_rankscore annotation provided by ANNOVAR">
##INFO=<ID=phastCons20way_mammalian,Number=.,Type=String,Description="phastCons20way_mammalian annotation provided by ANNOVAR">
##INFO=<ID=phastCons20way_mammalian_rankscore,Number=.,Type=String,Description="phastCons20way_mammalian_rankscore annotation provided by ANNOVAR">
##INFO=<ID=SiPhy_29way_logOdds,Number=.,Type=String,Description="SiPhy_29way_logOdds annotation provided by ANNOVAR">
##INFO=<ID=SiPhy_29way_logOdds_rankscore,Number=.,Type=String,Description="SiPhy_29way_logOdds_rankscore annotation provided by ANNOVAR">
##INFO=<ID=Interpro_domain,Number=.,Type=String,Description="Interpro_domain annotation provided by ANNOVAR">
##INFO=<ID=GTEx_V6p_gene,Number=.,Type=String,Description="GTEx_V6p_gene annotation provided by ANNOVAR">
##INFO=<ID=GTEx_V6p_tissue,Number=.,Type=String,Description="GTEx_V6p_tissue annotation provided by ANNOVAR">
##INFO=<ID=dbscSNV_ADA_SCORE,Number=.,Type=String,Description="dbscSNV_ADA_SCORE annotation provided by ANNOVAR">
##INFO=<ID=dbscSNV_RF_SCORE,Number=.,Type=String,Description="dbscSNV_RF_SCORE annotation provided by ANNOVAR">
##INFO=<ID=MCAP13,Number=.,Type=String,Description="MCAP13 annotation provided by ANNOVAR">
##INFO=<ID=REVEL,Number=.,Type=String,Description="REVEL annotation provided by ANNOVAR">
##INFO=<ID=regsnp_fpr,Number=.,Type=String,Description="regsnp_fpr annotation provided by ANNOVAR">
##INFO=<ID=regsnp_disease,Number=.,Type=String,Description="regsnp_disease annotation provided by ANNOVAR">
##INFO=<ID=regsnp_splicing_site,Number=.,Type=String,Description="regsnp_splicing_site annotation provided by ANNOVAR">
##INFO=<ID=gerp++elem,Number=.,Type=String,Description="gerp++elem annotation provided by ANNOVAR">
##INFO=<ID=gerp++gt2,Number=.,Type=String,Description="gerp++gt2 annotation provided by ANNOVAR">
##INFO=<ID=CADD13_RawScore,Number=.,Type=String,Description="CADD13_RawScore annotation provided by ANNOVAR">
##INFO=<ID=CADD13_PHRED,Number=.,Type=String,Description="CADD13_PHRED annotation provided by ANNOVAR">
##INFO=<ID=FATHMM_noncoding,Number=.,Type=String,Description="FATHMM_noncoding annotation provided by ANNOVAR">
##INFO=<ID=FATHMM_coding,Number=.,Type=String,Description="FATHMM_coding annotation provided by ANNOVAR">
##INFO=<ID=GWAVA_region_score,Number=.,Type=String,Description="GWAVA_region_score annotation provided by ANNOVAR">
##INFO=<ID=GWAVA_tss_score,Number=.,Type=String,Description="GWAVA_tss_score annotation provided by ANNOVAR">
##INFO=<ID=GWAVA_unmatched_score,Number=.,Type=String,Description="GWAVA_unmatched_score annotation provided by ANNOVAR">
##INFO=<ID=Eigen,Number=.,Type=String,Description="Eigen annotation provided by ANNOVAR">
##INFO=<ID=phastConsElements46way,Number=.,Type=String,Description="phastConsElements46way annotation provided by ANNOVAR">
##INFO=<ID=tfbsConsSites,Number=.,Type=String,Description="tfbsConsSites annotation provided by ANNOVAR">
##INFO=<ID=cytoBand,Number=.,Type=String,Description="cytoBand annotation provided by ANNOVAR">
##INFO=<ID=wgRna,Number=.,Type=String,Description="wgRna annotation provided by ANNOVAR">
##INFO=<ID=targetScanS,Number=.,Type=String,Description="targetScanS annotation provided by ANNOVAR">
##INFO=<ID=genomicSuperDups,Number=.,Type=String,Description="genomicSuperDups annotation provided by ANNOVAR">
##INFO=<ID=dgvMerged,Number=.,Type=String,Description="dgvMerged annotation provided by ANNOVAR">
##INFO=<ID=gwasCatalog,Number=.,Type=String,Description="gwasCatalog annotation provided by ANNOVAR">
##INFO=<ID=wgEncodeRegTfbsClustered,Number=.,Type=String,Description="wgEncodeRegTfbsClustered annotation provided by ANNOVAR">
##INFO=<ID=InterVar_automated,Number=.,Type=String,Description="InterVar_automated annotation provided by ANNOVAR">
##INFO=<ID=PVS1,Number=.,Type=String,Description="PVS1 annotation provided by ANNOVAR">
##INFO=<ID=PS1,Number=.,Type=String,Description="PS1 annotation provided by ANNOVAR">
##INFO=<ID=PS2,Number=.,Type=String,Description="PS2 annotation provided by ANNOVAR">
##INFO=<ID=PS3,Number=.,Type=String,Description="PS3 annotation provided by ANNOVAR">
##INFO=<ID=PS4,Number=.,Type=String,Description="PS4 annotation provided by ANNOVAR">
##INFO=<ID=PM1,Number=.,Type=String,Description="PM1 annotation provided by ANNOVAR">
##INFO=<ID=PM2,Number=.,Type=String,Description="PM2 annotation provided by ANNOVAR">
##INFO=<ID=PM3,Number=.,Type=String,Description="PM3 annotation provided by ANNOVAR">
##INFO=<ID=PM4,Number=.,Type=String,Description="PM4 annotation provided by ANNOVAR">
##INFO=<ID=PM5,Number=.,Type=String,Description="PM5 annotation provided by ANNOVAR">
##INFO=<ID=PM6,Number=.,Type=String,Description="PM6 annotation provided by ANNOVAR">
##INFO=<ID=PP1,Number=.,Type=String,Description="PP1 annotation provided by ANNOVAR">
##INFO=<ID=PP2,Number=.,Type=String,Description="PP2 annotation provided by ANNOVAR">
##INFO=<ID=PP3,Number=.,Type=String,Description="PP3 annotation provided by ANNOVAR">
##INFO=<ID=PP4,Number=.,Type=String,Description="PP4 annotation provided by ANNOVAR">
##INFO=<ID=PP5,Number=.,Type=String,Description="PP5 annotation provided by ANNOVAR">
##INFO=<ID=BA1,Number=.,Type=String,Description="BA1 annotation provided by ANNOVAR">
##INFO=<ID=BS1,Number=.,Type=String,Description="BS1 annotation provided by ANNOVAR">
##INFO=<ID=BS2,Number=.,Type=String,Description="BS2 annotation provided by ANNOVAR">
##INFO=<ID=BS3,Number=.,Type=String,Description="BS3 annotation provided by ANNOVAR">
##INFO=<ID=BS4,Number=.,Type=String,Description="BS4 annotation provided by ANNOVAR">
##INFO=<ID=BP1,Number=.,Type=String,Description="BP1 annotation provided by ANNOVAR">
##INFO=<ID=BP2,Number=.,Type=String,Description="BP2 annotation provided by ANNOVAR">
##INFO=<ID=BP3,Number=.,Type=String,Description="BP3 annotation provided by ANNOVAR">
##INFO=<ID=BP4,Number=.,Type=String,Description="BP4 annotation provided by ANNOVAR">
##INFO=<ID=BP5,Number=.,Type=String,Description="BP5 annotation provided by ANNOVAR">
##INFO=<ID=BP6,Number=.,Type=String,Description="BP6 annotation provided by ANNOVAR">
##INFO=<ID=BP7,Number=.,Type=String,Description="BP7 annotation provided by ANNOVAR">
##INFO=<ID=ALLELE_END,Number=0,Type=Flag,Description="Flag the end of ANNOVAR annotation for one alternative allele">
#CHROM POS ID REF ALT QUAL FILTER INFO FORMAT SM_NGS2_20150101A
chr1 15274 rs201931625 A G 590.77 . AC=1;AF=0.5;AN=2;DB;DP=28;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=30.49;QD=21.88;SOR=0.765;OLD_MULTIALLELIC=chr1:15274:A/G/T;ANNOVAR_DATE=2018-04-16;Func.refGene=ncRNA_intronic;Gene.refGene=WASH7P;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;Func.knownGene=ncRNA_exonic;Gene.knownGene=WASH7P;GeneDetail.knownGene=.;ExonicFunc.knownGene=.;AAChange.knownGene=.;Func.ensGene=ncRNA_intronic;Gene.ensGene=ENSG00000227232;GeneDetail.ensGene=.;ExonicFunc.ensGene=.;AAChange.ensGene=.;avsnp150=rs2758118;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=0.3717;gnomAD_genome_AFR=0.3824;gnomAD_genome_AMR=0.3197;gnomAD_genome_ASJ=0.2816;gnomAD_genome_EAS=0.5234;gnomAD_genome_FIN=0.3506;gnomAD_genome_NFE=0.3551;gnomAD_genome_OTH=0.3420;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;ExAC_nonpsych_ALL=.;ExAC_nonpsych_AFR=.;ExAC_nonpsych_AMR=.;ExAC_nonpsych_EAS=.;ExAC_nonpsych_FIN=.;ExAC_nonpsych_NFE=.;ExAC_nonpsych_OTH=.;ExAC_nonpsych_SAS=.;1000g2015aug_all=0.347244;1000g2015aug_eas=0.4812;1000g2015aug_afr=0.323;1000g2015aug_amr=0.2752;1000g2015aug_sas=0.3497;1000g2015aug_eur=0.2922;esp6500siv2_ea=.;esp6500siv2_aa=.;esp6500siv2_all=.;Kaviar_AF=0.0977025;Kaviar_AC=2543;Kaviar_AN=26028;HRC_AF=.;HRC_AC=.;HRC_AN=.;HRC_non1000G_AF=.;HRC_non1000G_AC=.;HRC_non1000G_AN=.;abraom_freq=0.535714;abraom_filter=VQSRTrancheSNP99.00to99.90;abraom_cegh_filter=FDP;GME_AF=.;GME_NWA=.;GME_NEA=.;GME_AP=.;GME_Israel=.;GME_SD=.;GME_TP=.;GME_CA=.;cg46=.;cg69=.;cosmic70=.;nci60=.;ICGC_Id=.;ICGC_Occurrence=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;MutPred_score=.;MutPred_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;MCAP13=.;REVEL=.;regsnp_fpr=.;regsnp_disease=.;regsnp_splicing_site=.;gerp++elem=.;gerp++gt2=.;CADD13_RawScore=-0.668823;CADD13_PHRED=0.085;FATHMM_noncoding=0.02727;FATHMM_coding=0.00080;GWAVA_region_score=0.38;GWAVA_tss_score=0.23;GWAVA_unmatched_score=182;Eigen=-0.6522;phastConsElements46way=.;tfbsConsSites=.;cytoBand=1p36.33;wgRna=.;targetScanS=.;genomicSuperDups=Score\x3d0.993729\x3bName\x3dchr9:10843;dgvMerged=Name\x3dnsv482937,esv2758911,dgv1e59,nsv428112,dgv1n82,esv27265,nsv1147468,dgv1n106,nsv7879,nsv1076307;gwasCatalog=.;wgEncodeRegTfbsClustered=.;InterVar_automated=.;PVS1=.;PS1=.;PS2=.;PS3=.;PS4=.;PM1=.;PM2=.;PM3=.;PM4=.;PM5=.;PM6=.;PP1=.;PP2=.;PP3=.;PP4=.;PP5=.;BA1=.;BS1=.;BS2=.;BS3=.;BS4=.;BP1=.;BP2=.;BP3=.;BP4=.;BP5=.;BP6=.;BP7=.;ALLELE_END GT:AD:DP:GQ:PL 1/.:0,11,16:27:99:619,351,318
chr1 15274 rs201931625 A T 590.77 . AC=1;AF=0.5;AN=2;DB;DP=28;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=30.49;QD=21.88;SOR=0.765;OLD_MULTIALLELIC=chr1:15274:A/G/T;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=ACTA2;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous;AAChange.refGene=.;Func.knownGene=ncRNA_exonic;Gene.knownGene=WASH7P;GeneDetail.knownGene=.;ExonicFunc.knownGene=.;AAChange.knownGene=.;Func.ensGene=ncRNA_intronic;Gene.ensGene=ENSG00000227232;GeneDetail.ensGene=.;ExonicFunc.ensGene=.;AAChange.ensGene=.;avsnp150=rs2758118;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=0.6122;gnomAD_genome_AFR=0.5681;gnomAD_genome_AMR=0.6803;gnomAD_genome_ASJ=0.7184;gnomAD_genome_EAS=0.4766;gnomAD_genome_FIN=0.6494;gnomAD_genome_NFE=0.6446;gnomAD_genome_OTH=0.6518;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;ExAC_nonpsych_ALL=.;ExAC_nonpsych_AFR=.;ExAC_nonpsych_AMR=.;ExAC_nonpsych_EAS=.;ExAC_nonpsych_FIN=.;ExAC_nonpsych_NFE=.;ExAC_nonpsych_OTH=.;ExAC_nonpsych_SAS=.;1000g2015aug_all=0.640974;1000g2015aug_eas=0.5188;1000g2015aug_afr=0.6369;1000g2015aug_amr=0.7205;1000g2015aug_sas=0.6472;1000g2015aug_eur=0.7078;esp6500siv2_ea=.;esp6500siv2_aa=.;esp6500siv2_all=.;Kaviar_AF=0.248847;Kaviar_AC=6477;Kaviar_AN=26028;HRC_AF=.;HRC_AC=.;HRC_AN=.;HRC_non1000G_AF=.;HRC_non1000G_AC=.;HRC_non1000G_AN=.;abraom_freq=0.916667;abraom_filter=VQSRTrancheSNP99.00to99.90;abraom_cegh_filter=FDP;GME_AF=.;GME_NWA=.;GME_NEA=.;GME_AP=.;GME_Israel=.;GME_SD=.;GME_TP=.;GME_CA=.;cg46=.;cg69=.;cosmic70=.;nci60=.;ICGC_Id=.;ICGC_Occurrence=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;MutPred_score=.;MutPred_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;MCAP13=.;REVEL=.;regsnp_fpr=.;regsnp_disease=.;regsnp_splicing_site=.;gerp++elem=.;gerp++gt2=.;CADD13_RawScore=-0.814099;CADD13_PHRED=0.040;FATHMM_noncoding=0.03913;FATHMM_coding=0.00499;GWAVA_region_score=0.38;GWAVA_tss_score=0.23;GWAVA_unmatched_score=182;Eigen=-0.6522;phastConsElements46way=.;tfbsConsSites=.;cytoBand=1p36.33;wgRna=.;targetScanS=.;genomicSuperDups=Score\x3d0.993729\x3bName\x3dchr9:10843;dgvMerged=Name\x3ddgv1e59,nsv428112,dgv1n82,nsv482937,esv2758911,dgv1n106,nsv7879,nsv1076307,esv27265,nsv1147468;gwasCatalog=.;wgEncodeRegTfbsClustered=.;InterVar_automated=.;PVS1=.;PS1=.;PS2=.;PS3=.;PS4=.;PM1=.;PM2=.;PM3=.;PM4=.;PM5=.;PM6=.;PP1=.;PP2=.;PP3=.;PP4=.;PP5=.;BA1=.;BS1=.;BS2=.;BS3=.;BS4=.;BP1=.;BP2=.;BP3=.;BP4=.;BP5=.;BP6=.;BP7=.;ALLELE_END GT:AD:DP:GQ:PL ./1:0,11,16:27:99:619,268,222
chr1 726481 rs3131980 T G 1045.73 . AC=1;AF=0.5;AN=2;DB;DP=33;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=57.5;QD=38.73;SOR=0.765;OLD_MULTIALLELIC=chr1:726481:T/G/TGG;ANNOVAR_DATE=2018-04-16;Func.refGene=intergenic;Gene.refGene=LOC100288069\x3bFAM87B;GeneDetail.refGene=dist\x3d12413\x3bdist\x3d26270;ExonicFunc.refGene=.;AAChange.refGene=.;Func.knownGene=intergenic;Gene.knownGene=LOC100288069\x3bLINC00115;GeneDetail.knownGene=dist\x3d12413\x3bdist\x3d35105;ExonicFunc.knownGene=.;AAChange.knownGene=.;Func.ensGene=ncRNA_intronic;Gene.ensGene=ENSG00000237491;GeneDetail.ensGene=.;ExonicFunc.ensGene=.;AAChange.ensGene=.;avsnp150=rs3131980;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=0.7881;gnomAD_genome_AFR=0.5829;gnomAD_genome_AMR=0.8425;gnomAD_genome_ASJ=0.9467;gnomAD_genome_EAS=0.8949;gnomAD_genome_FIN=0.8063;gnomAD_genome_NFE=0.8823;gnomAD_genome_OTH=0.8292;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;ExAC_nonpsych_ALL=.;ExAC_nonpsych_AFR=.;ExAC_nonpsych_AMR=.;ExAC_nonpsych_EAS=.;ExAC_nonpsych_FIN=.;ExAC_nonpsych_NFE=.;ExAC_nonpsych_OTH=.;ExAC_nonpsych_SAS=.;1000g2015aug_all=.;1000g2015aug_eas=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_sas=.;1000g2015aug_eur=.;esp6500siv2_ea=.;esp6500siv2_aa=.;esp6500siv2_all=.;Kaviar_AF=0.0001153;Kaviar_AC=3;Kaviar_AN=26028;HRC_AF=.;HRC_AC=.;HRC_AN=.;HRC_non1000G_AF=.;HRC_non1000G_AC=.;HRC_non1000G_AN=.;abraom_freq=.;abraom_filter=.;abraom_cegh_filter=.;GME_AF=.;GME_NWA=.;GME_NEA=.;GME_AP=.;GME_Israel=.;GME_SD=.;GME_TP=.;GME_CA=.;cg46=0.011;cg69=0.007;cosmic70=.;nci60=.;ICGC_Id=.;ICGC_Occurrence=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;MutPred_score=.;MutPred_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;MCAP13=.;REVEL=.;regsnp_fpr=.;regsnp_disease=.;regsnp_splicing_site=.;gerp++elem=.;gerp++gt2=.;CADD13_RawScore=0.615476;CADD13_PHRED=8.263;FATHMM_noncoding=0.02141;FATHMM_coding=0.00016;GWAVA_region_score=0.4;GWAVA_tss_score=0.11;GWAVA_unmatched_score=182;Eigen=-0.8439;phastConsElements46way=.;tfbsConsSites=.;cytoBand=1p36.33;wgRna=.;targetScanS=.;genomicSuperDups=Score\x3d0.984251\x3bName\x3dchr1:224139760;dgvMerged=Name\x3dnsv1159749,dgv1n111,dgv4n54,dgv2n111,nsv513729,nsv1132275,nsv510950,nsv544893,nsv1004962,dgv3n111,esv3584978,dgv4n100,nsv482937,esv3584977,nsv1076310,nsv471522,dgv5n100,nsv820807,nsv1003571,nsv999242,dgv3n100,nsv1148789,esv2762129,nsv949808,nsv945732,nsv831869,nsv508722,dgv5n54,dgv2n100,nsv10161,esv2758911,nsv544892,nsv999785,esv26272,esv3584976;gwasCatalog=.;wgEncodeRegTfbsClustered=.;InterVar_automated=.;PVS1=.;PS1=.;PS2=.;PS3=.;PS4=.;PM1=.;PM2=.;PM3=.;PM4=.;PM5=.;PM6=.;PP1=.;PP2=.;PP3=.;PP4=.;PP5=.;BA1=.;BS1=.;BS2=.;BS3=.;BS4=.;BP1=.;BP2=.;BP3=.;BP4=.;BP5=.;BP6=.;BP7=.;ALLELE_END GT:AD:DP:GQ:PL 1/.:0,16,11:27:99:1083,469,403
chr1 726481 rs3131980 T TGG 1045.73 . AC=1;AF=0.5;AN=2;DB;DP=33;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=57.5;QD=38.73;SOR=0.765;OLD_MULTIALLELIC=chr1:726481:T/G/TGG;ANNOVAR_DATE=2018-04-16;Func.refGene=intergenic;Gene.refGene=LOC100288069\x3bFAM87B;GeneDetail.refGene=dist\x3d12413\x3bdist\x3d26270;ExonicFunc.refGene=.;AAChange.refGene=.;Func.knownGene=intergenic;Gene.knownGene=LOC100288069\x3bLINC00115;GeneDetail.knownGene=dist\x3d12413\x3bdist\x3d35105;ExonicFunc.knownGene=.;AAChange.knownGene=.;Func.ensGene=ncRNA_intronic;Gene.ensGene=ENSG00000237491;GeneDetail.ensGene=.;ExonicFunc.ensGene=.;AAChange.ensGene=.;avsnp150=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=0.2099;gnomAD_genome_AFR=0.4111;gnomAD_genome_AMR=0.1575;gnomAD_genome_ASJ=0.0533;gnomAD_genome_EAS=0.1051;gnomAD_genome_FIN=0.1935;gnomAD_genome_NFE=0.1174;gnomAD_genome_OTH=0.1677;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;ExAC_nonpsych_ALL=.;ExAC_nonpsych_AFR=.;ExAC_nonpsych_AMR=.;ExAC_nonpsych_EAS=.;ExAC_nonpsych_FIN=.;ExAC_nonpsych_NFE=.;ExAC_nonpsych_OTH=.;ExAC_nonpsych_SAS=.;1000g2015aug_all=.;1000g2015aug_eas=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_sas=.;1000g2015aug_eur=.;esp6500siv2_ea=.;esp6500siv2_aa=.;esp6500siv2_all=.;Kaviar_AF=0.006954;Kaviar_AC=181;Kaviar_AN=26028;HRC_AF=.;HRC_AC=.;HRC_AN=.;HRC_non1000G_AF=.;HRC_non1000G_AC=.;HRC_non1000G_AN=.;abraom_freq=.;abraom_filter=.;abraom_cegh_filter=.;GME_AF=.;GME_NWA=.;GME_NEA=.;GME_AP=.;GME_Israel=.;GME_SD=.;GME_TP=.;GME_CA=.;cg46=.;cg69=.;cosmic70=.;nci60=.;ICGC_Id=.;ICGC_Occurrence=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;MutPred_score=.;MutPred_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;MCAP13=.;REVEL=.;regsnp_fpr=.;regsnp_disease=.;regsnp_splicing_site=.;gerp++elem=.;gerp++gt2=.;CADD13_RawScore=.;CADD13_PHRED=.;FATHMM_noncoding=.;FATHMM_coding=.;GWAVA_region_score=.;GWAVA_tss_score=.;GWAVA_unmatched_score=.;Eigen=.;phastConsElements46way=.;tfbsConsSites=.;cytoBand=1p36.33;wgRna=.;targetScanS=.;genomicSuperDups=Score\x3d0.984251\x3bName\x3dchr1:224139760;dgvMerged=Name\x3dnsv513729,dgv4n54,dgv2n111,dgv1n111,nsv1159749,nsv510950,nsv1132275,nsv544893,nsv1004962,dgv4n100,dgv3n111,esv3584978,nsv1076310,esv3584977,nsv482937,nsv471522,dgv5n100,nsv820807,esv2762129,dgv3n100,nsv1003571,nsv999242,nsv1148789,nsv831869,nsv949808,nsv945732,dgv5n54,nsv508722,dgv2n100,nsv10161,esv2758911,esv26272,nsv544892,nsv999785,esv3584976;gwasCatalog=.;wgEncodeRegTfbsClustered=.;InterVar_automated=.;PVS1=.;PS1=.;PS2=.;PS3=.;PS4=.;PM1=.;PM2=.;PM3=.;PM4=.;PM5=.;PM6=.;PP1=.;PP2=.;PP3=.;PP4=.;PP5=.;BA1=.;BS1=.;BS2=.;BS3=.;BS4=.;BP1=.;BP2=.;BP3=.;BP4=.;BP5=.;BP6=.;BP7=.;ALLELE_END GT:AD:DP:GQ:PL ./1:0,16,11:27:99:1083,508,565
chr1 768116 . AGTTTT A 546.73 . AC=1;AF=0.5;AN=2;DP=22;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=59.95;QD=39.05;SOR=2.303;OLD_MULTIALLELIC=chr1:768116:AGTTTT/A/AGTTTTGTTTTGTTTT;ANNOVAR_DATE=2018-04-16;Func.refGene=ncRNA_intronic;Gene.refGene=LINC01128;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;Func.knownGene=ncRNA_intronic;Gene.knownGene=LOC643837;GeneDetail.knownGene=.;ExonicFunc.knownGene=.;AAChange.knownGene=.;Func.ensGene=ncRNA_intronic;Gene.ensGene=ENSG00000228794;GeneDetail.ensGene=.;ExonicFunc.ensGene=.;AAChange.ensGene=.;avsnp150=rs747206001;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=0.2019;gnomAD_genome_AFR=0.3158;gnomAD_genome_AMR=0.1853;gnomAD_genome_ASJ=0.1569;gnomAD_genome_EAS=0.1053;gnomAD_genome_FIN=0.1934;gnomAD_genome_NFE=0.1535;gnomAD_genome_OTH=0.1972;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;ExAC_nonpsych_ALL=.;ExAC_nonpsych_AFR=.;ExAC_nonpsych_AMR=.;ExAC_nonpsych_EAS=.;ExAC_nonpsych_FIN=.;ExAC_nonpsych_NFE=.;ExAC_nonpsych_OTH=.;ExAC_nonpsych_SAS=.;1000g2015aug_all=.;1000g2015aug_eas=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_sas=.;1000g2015aug_eur=.;esp6500siv2_ea=.;esp6500siv2_aa=.;esp6500siv2_all=.;Kaviar_AF=0.0083372;Kaviar_AC=217;Kaviar_AN=26028;HRC_AF=.;HRC_AC=.;HRC_AN=.;HRC_non1000G_AF=.;HRC_non1000G_AC=.;HRC_non1000G_AN=.;abraom_freq=.;abraom_filter=.;abraom_cegh_filter=.;GME_AF=.;GME_NWA=.;GME_NEA=.;GME_AP=.;GME_Israel=.;GME_SD=.;GME_TP=.;GME_CA=.;cg46=.;cg69=.;cosmic70=.;nci60=.;ICGC_Id=.;ICGC_Occurrence=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;MutPred_score=.;MutPred_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;MCAP13=.;REVEL=.;regsnp_fpr=.;regsnp_disease=.;regsnp_splicing_site=.;gerp++elem=.;gerp++gt2=.;CADD13_RawScore=.;CADD13_PHRED=.;FATHMM_noncoding=.;FATHMM_coding=.;GWAVA_region_score=.;GWAVA_tss_score=.;GWAVA_unmatched_score=.;Eigen=.;phastConsElements46way=.;tfbsConsSites=.;cytoBand=1p36.33;wgRna=.;targetScanS=.;genomicSuperDups=Score\x3d0.977993\x3bName\x3dchr8:240489;dgvMerged=Name\x3desv2661847,dgv2n111,nsv1159749,dgv1n111,esv33946,nsv1004962,esv2748251,nsv517709,dgv1e55,dgv3n111,dgv4n100,nsv482937,nsv945734,dgv5n100,nsv1005935,nsv1003571,nsv999242,dgv3n100,dgv1n67,esv2762129,nsv442837,dgv2n100,nsv10161,esv3584980,esv3890635,esv3584976,esv2758911,nsv999785;gwasCatalog=.;wgEncodeRegTfbsClustered=.;InterVar_automated=.;PVS1=.;PS1=.;PS2=.;PS3=.;PS4=.;PM1=.;PM2=.;PM3=.;PM4=.;PM5=.;PM6=.;PP1=.;PP2=.;PP3=.;PP4=.;PP5=.;BA1=.;BS1=.;BS2=.;BS3=.;BS4=.;BP1=.;BP2=.;BP3=.;BP4=.;BP5=.;BP6=.;BP7=.;ALLELE_END GT:AD:DP:GQ:PL 1/.:0,6,8:14:99:584,335,358
chr1 768116 . A AGTTTTGTTTT 546.73 . AC=1;AF=0.5;AN=2;DP=22;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=59.95;QD=39.05;SOR=2.303;OLD_MULTIALLELIC=chr1:768116:AGTTTT/A/AGTTTTGTTTTGTTTT;OLD_VARIANT=chr1:768116:AGTTTT/AGTTTTGTTTTGTTTT;ANNOVAR_DATE=2018-04-16;Func.refGene=ncRNA_intronic;Gene.refGene=LINC01128;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;Func.knownGene=ncRNA_intronic;Gene.knownGene=LOC643837;GeneDetail.knownGene=.;ExonicFunc.knownGene=.;AAChange.knownGene=.;Func.ensGene=ncRNA_intronic;Gene.ensGene=ENSG00000228794;GeneDetail.ensGene=.;ExonicFunc.ensGene=.;AAChange.ensGene=.;avsnp150=rs775802321;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=0.1112;gnomAD_genome_AFR=0.0742;gnomAD_genome_AMR=0.104;gnomAD_genome_ASJ=0.1204;gnomAD_genome_EAS=0.1714;gnomAD_genome_FIN=0.1174;gnomAD_genome_NFE=0.1239;gnomAD_genome_OTH=0.1133;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;ExAC_nonpsych_ALL=.;ExAC_nonpsych_AFR=.;ExAC_nonpsych_AMR=.;ExAC_nonpsych_EAS=.;ExAC_nonpsych_FIN=.;ExAC_nonpsych_NFE=.;ExAC_nonpsych_OTH=.;ExAC_nonpsych_SAS=.;1000g2015aug_all=.;1000g2015aug_eas=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_sas=.;1000g2015aug_eur=.;esp6500siv2_ea=.;esp6500siv2_aa=.;esp6500siv2_all=.;Kaviar_AF=0.0009989;Kaviar_AC=26;Kaviar_AN=26028;HRC_AF=.;HRC_AC=.;HRC_AN=.;HRC_non1000G_AF=.;HRC_non1000G_AC=.;HRC_non1000G_AN=.;abraom_freq=.;abraom_filter=.;abraom_cegh_filter=.;GME_AF=.;GME_NWA=.;GME_NEA=.;GME_AP=.;GME_Israel=.;GME_SD=.;GME_TP=.;GME_CA=.;cg46=.;cg69=.;cosmic70=.;nci60=.;ICGC_Id=.;ICGC_Occurrence=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;MutPred_score=.;MutPred_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;MCAP13=.;REVEL=.;regsnp_fpr=.;regsnp_disease=.;regsnp_splicing_site=.;gerp++elem=.;gerp++gt2=.;CADD13_RawScore=.;CADD13_PHRED=.;FATHMM_noncoding=.;FATHMM_coding=.;GWAVA_region_score=.;GWAVA_tss_score=.;GWAVA_unmatched_score=.;Eigen=.;phastConsElements46way=.;tfbsConsSites=.;cytoBand=1p36.33;wgRna=.;targetScanS=.;genomicSuperDups=Score\x3d0.977993\x3bName\x3dchr8:240489;dgvMerged=Name\x3desv2661847,esv33946,dgv2n111,dgv1n111,nsv1159749,nsv1004962,esv2748251,dgv1e55,nsv517709,dgv4n100,dgv3n111,nsv482937,dgv5n100,nsv945734,nsv1005935,dgv1n67,esv2762129,nsv1003571,dgv3n100,nsv999242,nsv442837,nsv10161,dgv2n100,esv3584980,esv3584976,esv3890635,nsv999785,esv2758911;gwasCatalog=.;wgEncodeRegTfbsClustered=.;InterVar_automated=.;PVS1=.;PS1=.;PS2=.;PS3=.;PS4=.;PM1=.;PM2=.;PM3=.;PM4=.;PM5=.;PM6=.;PP1=.;PP2=.;PP3=.;PP4=.;PP5=.;BA1=.;BS1=.;BS2=.;BS3=.;BS4=.;BP1=.;BP2=.;BP3=.;BP4=.;BP5=.;BP6=.;BP7=.;ALLELE_END GT:AD:DP:GQ:PL ./1:0,6,8:14:99:584,249,226
chr1 825069 rs4475692 G A 963.77 . AC=1;AF=0.5;AN=2;BaseQRankSum=2.094;ClippingRankSum=0;DB;DP=60;ExcessHet=3.0103;FS=3.601;MLEAC=1;MLEAF=0.5;MQ=51.22;MQRankSum=2.71;QD=20.51;ReadPosRankSum=0.688;SOR=0.264;OLD_MULTIALLELIC=chr1:825069:G/A/C;ANNOVAR_DATE=2018-04-16;Func.refGene=intergenic;Gene.refGene=FAM41C\x3bLOC100130417;GeneDetail.refGene=dist\x3d12887\x3bdist\x3d27129;ExonicFunc.refGene=.;AAChange.refGene=.;Func.knownGene=intergenic;Gene.knownGene=FAM41C\x3bAK056486;GeneDetail.knownGene=dist\x3d12887\x3bdist\x3d21746;ExonicFunc.knownGene=.;AAChange.knownGene=.;Func.ensGene=intergenic;Gene.ensGene=ENSG00000269308\x3bENSG00000272438;GeneDetail.ensGene=dist\x3d5086\x3bdist\x3d15145;ExonicFunc.ensGene=.;AAChange.ensGene=.;avsnp150=rs4475692;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=0.2626;gnomAD_genome_AFR=0.3349;gnomAD_genome_AMR=0.3408;gnomAD_genome_ASJ=0.0606;gnomAD_genome_EAS=0.3168;gnomAD_genome_FIN=0.3791;gnomAD_genome_NFE=0.1870;gnomAD_genome_OTH=0.275;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;ExAC_nonpsych_ALL=.;ExAC_nonpsych_AFR=.;ExAC_nonpsych_AMR=.;ExAC_nonpsych_EAS=.;ExAC_nonpsych_FIN=.;ExAC_nonpsych_NFE=.;ExAC_nonpsych_OTH=.;ExAC_nonpsych_SAS=.;1000g2015aug_all=.;1000g2015aug_eas=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_sas=.;1000g2015aug_eur=.;esp6500siv2_ea=.;esp6500siv2_aa=.;esp6500siv2_all=.;Kaviar_AF=0.0001537;Kaviar_AC=4;Kaviar_AN=26028;HRC_AF=.;HRC_AC=.;HRC_AN=.;HRC_non1000G_AF=.;HRC_non1000G_AC=.;HRC_non1000G_AN=.;abraom_freq=.;abraom_filter=.;abraom_cegh_filter=.;GME_AF=.;GME_NWA=.;GME_NEA=.;GME_AP=.;GME_Israel=.;GME_SD=.;GME_TP=.;GME_CA=.;cg46=.;cg69=.;cosmic70=.;nci60=.;ICGC_Id=MU31037819;ICGC_Occurrence=PRAD-CA|1|124|0.00806;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;MutPred_score=.;MutPred_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;MCAP13=.;REVEL=.;regsnp_fpr=.;regsnp_disease=.;regsnp_splicing_site=.;gerp++elem=.;gerp++gt2=.;CADD13_RawScore=0.748036;CADD13_PHRED=9.138;FATHMM_noncoding=0.05871;FATHMM_coding=0.00288;GWAVA_region_score=0.33;GWAVA_tss_score=0.15;GWAVA_unmatched_score=182;Eigen=-0.1753;phastConsElements46way=.;tfbsConsSites=.;cytoBand=1p36.33;wgRna=.;targetScanS=.;genomicSuperDups=Score\x3d0.928182\x3bName\x3dchrUn_gl000232:14702;dgvMerged=Name\x3ddgv3n111,dgv4n100,nsv517709,nsv1009537,nsv482937,nsv832980,nsv1124557,dgv1n111,nsv428334,nsv1004962,nsv10161,esv2758911,nsv945739,esv3584976,nsv1005935,esv3584981,dgv2n67,dgv5n100,nsv950387,dgv4n111,esv3584982,dgv3n100,dgv1n67,esv2762129;gwasCatalog=.;wgEncodeRegTfbsClustered=.;InterVar_automated=.;PVS1=.;PS1=.;PS2=.;PS3=.;PS4=.;PM1=.;PM2=.;PM3=.;PM4=.;PM5=.;PM6=.;PP1=.;PP2=.;PP3=.;PP4=.;PP5=.;BA1=.;BS1=.;BS2=.;BS3=.;BS4=.;BP1=.;BP2=.;BP3=.;BP4=.;BP5=.;BP6=.;BP7=.;ALLELE_END GT:AD:DP:GQ:PL 1/.:7,11,29:47:99:992,632,1141
chr1 825069 rs4475692 G C 963.77 . AC=1;AF=0.5;AN=2;BaseQRankSum=2.094;ClippingRankSum=0;DB;DP=60;ExcessHet=3.0103;FS=3.601;MLEAC=1;MLEAF=0.5;MQ=51.22;MQRankSum=2.71;QD=20.51;ReadPosRankSum=0.688;SOR=0.264;OLD_MULTIALLELIC=chr1:825069:G/A/C;ANNOVAR_DATE=2018-04-16;Func.refGene=intergenic;Gene.refGene=FAM41C\x3bLOC100130417;GeneDetail.refGene=dist\x3d12887\x3bdist\x3d27129;ExonicFunc.refGene=.;AAChange.refGene=.;Func.knownGene=intergenic;Gene.knownGene=FAM41C\x3bAK056486;GeneDetail.knownGene=dist\x3d12887\x3bdist\x3d21746;ExonicFunc.knownGene=.;AAChange.knownGene=.;Func.ensGene=intergenic;Gene.ensGene=ENSG00000269308\x3bENSG00000272438;GeneDetail.ensGene=dist\x3d5086\x3bdist\x3d15145;ExonicFunc.ensGene=.;AAChange.ensGene=.;avsnp150=rs4475692;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=0.3964;gnomAD_genome_AFR=0.2824;gnomAD_genome_AMR=0.2440;gnomAD_genome_ASJ=0.4811;gnomAD_genome_EAS=0.3598;gnomAD_genome_FIN=0.3285;gnomAD_genome_NFE=0.4891;gnomAD_genome_OTH=0.3830;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;ExAC_nonpsych_ALL=.;ExAC_nonpsych_AFR=.;ExAC_nonpsych_AMR=.;ExAC_nonpsych_EAS=.;ExAC_nonpsych_FIN=.;ExAC_nonpsych_NFE=.;ExAC_nonpsych_OTH=.;ExAC_nonpsych_SAS=.;1000g2015aug_all=0.677316;1000g2015aug_eas=0.754;1000g2015aug_afr=0.6127;1000g2015aug_amr=0.5692;1000g2015aug_sas=0.7096;1000g2015aug_eur=0.7286;esp6500siv2_ea=.;esp6500siv2_aa=.;esp6500siv2_all=.;Kaviar_AF=0.000461;Kaviar_AC=12;Kaviar_AN=26028;HRC_AF=.;HRC_AC=.;HRC_AN=.;HRC_non1000G_AF=.;HRC_non1000G_AC=.;HRC_non1000G_AN=.;abraom_freq=.;abraom_filter=.;abraom_cegh_filter=.;GME_AF=.;GME_NWA=.;GME_NEA=.;GME_AP=.;GME_Israel=.;GME_SD=.;GME_TP=.;GME_CA=.;cg46=0.239;cg69=0.268;cosmic70=.;nci60=.;ICGC_Id=MU31037826;ICGC_Occurrence=PRAD-CA|1|124|0.00806;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;MutPred_score=.;MutPred_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;MCAP13=.;REVEL=.;regsnp_fpr=.;regsnp_disease=.;regsnp_splicing_site=.;gerp++elem=.;gerp++gt2=.;CADD13_RawScore=0.457520;CADD13_PHRED=7.098;FATHMM_noncoding=0.06059;FATHMM_coding=0.00363;GWAVA_region_score=0.33;GWAVA_tss_score=0.15;GWAVA_unmatched_score=182;Eigen=-0.1753;phastConsElements46way=.;tfbsConsSites=.;cytoBand=1p36.33;wgRna=.;targetScanS=.;genomicSuperDups=Score\x3d0.928182\x3bName\x3dchrUn_gl000232:14702;dgvMerged=Name\x3dnsv10161,esv3584976,nsv945739,esv2758911,nsv950387,dgv5n100,dgv2n67,nsv1005935,esv3584981,esv2762129,dgv1n67,dgv3n100,esv3584982,dgv4n111,nsv517709,dgv4n100,dgv3n111,nsv832980,nsv482937,nsv1009537,dgv1n111,nsv1124557,nsv1004962,nsv428334;gwasCatalog=.;wgEncodeRegTfbsClustered=.;InterVar_automated=.;PVS1=.;PS1=.;PS2=.;PS3=.;PS4=.;PM1=.;PM2=.;PM3=.;PM4=.;PM5=.;PM6=.;PP1=.;PP2=.;PP3=.;PP4=.;PP5=.;BA1=.;BS1=.;BS2=.;BS3=.;BS4=.;BP1=.;BP2=.;BP3=.;BP4=.;BP5=.;BP6=.;BP7=.;ALLELE_END GT:AD:DP:GQ:PL ./1:7,11,29:47:99:992,158,401
chr1 872776 rs5772023 GCC G 836.73 . AC=1;AF=0.5;AN=2;DB;DP=26;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;QD=34.86;SOR=2.925;OLD_MULTIALLELIC=chr1:872776:GCC/G/GCCC;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=SAMD11;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;Func.knownGene=intronic;Gene.knownGene=SAMD11;GeneDetail.knownGene=.;ExonicFunc.knownGene=.;AAChange.knownGene=.;Func.ensGene=intronic;Gene.ensGene=ENSG00000187634;GeneDetail.ensGene=.;ExonicFunc.ensGene=.;AAChange.ensGene=.;avsnp150=rs5772023;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=0.5627;gnomAD_genome_AFR=0.6959;gnomAD_genome_AMR=0.5765;gnomAD_genome_ASJ=0.6547;gnomAD_genome_EAS=0.5579;gnomAD_genome_FIN=0.5586;gnomAD_genome_NFE=0.4797;gnomAD_genome_OTH=0.5382;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;ExAC_nonpsych_ALL=.;ExAC_nonpsych_AFR=.;ExAC_nonpsych_AMR=.;ExAC_nonpsych_EAS=.;ExAC_nonpsych_FIN=.;ExAC_nonpsych_NFE=.;ExAC_nonpsych_OTH=.;ExAC_nonpsych_SAS=.;1000g2015aug_all=0.609225;1000g2015aug_eas=0.6052;1000g2015aug_afr=0.7254;1000g2015aug_amr=0.6239;1000g2015aug_sas=0.5245;1000g2015aug_eur=0.5328;esp6500siv2_ea=.;esp6500siv2_aa=.;esp6500siv2_all=.;Kaviar_AF=0.0001153;Kaviar_AC=3;Kaviar_AN=26028;HRC_AF=.;HRC_AC=.;HRC_AN=.;HRC_non1000G_AF=.;HRC_non1000G_AC=.;HRC_non1000G_AN=.;abraom_freq=.;abraom_filter=.;abraom_cegh_filter=.;GME_AF=.;GME_NWA=.;GME_NEA=.;GME_AP=.;GME_Israel=.;GME_SD=.;GME_TP=.;GME_CA=.;cg46=.;cg69=.;cosmic70=.;nci60=.;ICGC_Id=.;ICGC_Occurrence=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;MutPred_score=.;MutPred_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;MCAP13=.;REVEL=.;regsnp_fpr=.;regsnp_disease=.;regsnp_splicing_site=.;gerp++elem=.;gerp++gt2=.;CADD13_RawScore=.;CADD13_PHRED=.;FATHMM_noncoding=.;FATHMM_coding=.;GWAVA_region_score=.;GWAVA_tss_score=.;GWAVA_unmatched_score=.;Eigen=.;phastConsElements46way=.;tfbsConsSites=.;cytoBand=1p36.33;wgRna=.;targetScanS=.;genomicSuperDups=.;dgvMerged=Name\x3ddgv5n100,esv2762302,dgv2n67,nsv544895,dgv8n54,nsv10161,dgv14n54,esv2758911,dgv1n111,dgv15n54,nsv428334,dgv9n54,nsv544924,nsv517709,dgv4n100,dgv3n111,nsv832980,nsv509035,nsv544932,nsv482937,nsv950451,nsv544898;gwasCatalog=.;wgEncodeRegTfbsClustered=.;InterVar_automated=.;PVS1=.;PS1=.;PS2=.;PS3=.;PS4=.;PM1=.;PM2=.;PM3=.;PM4=.;PM5=.;PM6=.;PP1=.;PP2=.;PP3=.;PP4=.;PP5=.;BA1=.;BS1=.;BS2=.;BS3=.;BS4=.;BP1=.;BP2=.;BP3=.;BP4=.;BP5=.;BP6=.;BP7=.;ALLELE_END GT:AD:DP:GQ:PL 1/.:0,18,6:24:99:874,160,221
chr1 872776 rs5772023 G GC 836.73 . AC=1;AF=0.5;AN=2;DB;DP=26;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;QD=34.86;SOR=2.925;OLD_MULTIALLELIC=chr1:872776:GCC/G/GCCC;OLD_VARIANT=chr1:872776:GCC/GCCC;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=SAMD11;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;Func.knownGene=intronic;Gene.knownGene=SAMD11;GeneDetail.knownGene=.;ExonicFunc.knownGene=.;AAChange.knownGene=.;Func.ensGene=intronic;Gene.ensGene=ENSG00000187634;GeneDetail.ensGene=.;ExonicFunc.ensGene=.;AAChange.ensGene=.;avsnp150=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=0.0119;gnomAD_genome_AFR=0.0239;gnomAD_genome_AMR=0.0028;gnomAD_genome_ASJ=0.0036;gnomAD_genome_EAS=0.0075;gnomAD_genome_FIN=0.0059;gnomAD_genome_NFE=0.0074;gnomAD_genome_OTH=0.0051;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;ExAC_nonpsych_ALL=.;ExAC_nonpsych_AFR=.;ExAC_nonpsych_AMR=.;ExAC_nonpsych_EAS=.;ExAC_nonpsych_FIN=.;ExAC_nonpsych_NFE=.;ExAC_nonpsych_OTH=.;ExAC_nonpsych_SAS=.;1000g2015aug_all=.;1000g2015aug_eas=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_sas=.;1000g2015aug_eur=.;esp6500siv2_ea=.;esp6500siv2_aa=.;esp6500siv2_all=.;Kaviar_AF=0.0002689;Kaviar_AC=7;Kaviar_AN=26028;HRC_AF=.;HRC_AC=.;HRC_AN=.;HRC_non1000G_AF=.;HRC_non1000G_AC=.;HRC_non1000G_AN=.;abraom_freq=.;abraom_filter=.;abraom_cegh_filter=.;GME_AF=.;GME_NWA=.;GME_NEA=.;GME_AP=.;GME_Israel=.;GME_SD=.;GME_TP=.;GME_CA=.;cg46=.;cg69=.;cosmic70=.;nci60=.;ICGC_Id=.;ICGC_Occurrence=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;MutPred_score=.;MutPred_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;MCAP13=.;REVEL=.;regsnp_fpr=.;regsnp_disease=.;regsnp_splicing_site=.;gerp++elem=.;gerp++gt2=.;CADD13_RawScore=.;CADD13_PHRED=.;FATHMM_noncoding=.;FATHMM_coding=.;GWAVA_region_score=.;GWAVA_tss_score=.;GWAVA_unmatched_score=.;Eigen=.;phastConsElements46way=.;tfbsConsSites=.;cytoBand=1p36.33;wgRna=.;targetScanS=.;genomicSuperDups=.;dgvMerged=Name\x3desv2762302,dgv2n67,dgv5n100,nsv544895,dgv8n54,dgv14n54,nsv10161,esv2758911,dgv1n111,nsv428334,dgv15n54,dgv3n111,dgv4n100,dgv9n54,nsv544924,nsv517709,nsv482937,nsv950451,nsv544898,nsv544932,nsv832980,nsv509035;gwasCatalog=.;wgEncodeRegTfbsClustered=.;InterVar_automated=.;PVS1=.;PS1=.;PS2=.;PS3=.;PS4=.;PM1=.;PM2=.;PM3=.;PM4=.;PM5=.;PM6=.;PP1=.;PP2=.;PP3=.;PP4=.;PP5=.;BA1=.;BS1=.;BS2=.;BS3=.;BS4=.;BP1=.;BP2=.;BP3=.;BP4=.;BP5=.;BP6=.;BP7=.;ALLELE_END GT:AD:DP:GQ:PL ./1:0,18,6:24:99:874,737,742
chr1 974791 rs143039255 T TGG 605.73 . AC=1;AF=0.5;AN=2;DB;DP=17;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;QD=35.63;SOR=0.804;OLD_MULTIALLELIC=chr1:974791:T/TGG/TGGG;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=AGRN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;Func.knownGene=intronic;Gene.knownGene=AGRN;GeneDetail.knownGene=.;ExonicFunc.knownGene=.;AAChange.knownGene=.;Func.ensGene=intronic;Gene.ensGene=ENSG00000188157;GeneDetail.ensGene=.;ExonicFunc.ensGene=.;AAChange.ensGene=.;avsnp150=rs36095704;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=0.5300;gnomAD_genome_AFR=0.3507;gnomAD_genome_AMR=0.6938;gnomAD_genome_ASJ=0.5730;gnomAD_genome_EAS=0.7958;gnomAD_genome_FIN=0.5730;gnomAD_genome_NFE=0.5848;gnomAD_genome_OTH=0.5910;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;ExAC_nonpsych_ALL=.;ExAC_nonpsych_AFR=.;ExAC_nonpsych_AMR=.;ExAC_nonpsych_EAS=.;ExAC_nonpsych_FIN=.;ExAC_nonpsych_NFE=.;ExAC_nonpsych_OTH=.;ExAC_nonpsych_SAS=.;1000g2015aug_all=0.820088;1000g2015aug_eas=0.9911;1000g2015aug_afr=0.5295;1000g2015aug_amr=0.889;1000g2015aug_sas=0.9458;1000g2015aug_eur=0.8608;esp6500siv2_ea=.;esp6500siv2_aa=.;esp6500siv2_all=.;Kaviar_AF=0.0001153;Kaviar_AC=3;Kaviar_AN=26028;HRC_AF=.;HRC_AC=.;HRC_AN=.;HRC_non1000G_AF=.;HRC_non1000G_AC=.;HRC_non1000G_AN=.;abraom_freq=.;abraom_filter=.;abraom_cegh_filter=.;GME_AF=.;GME_NWA=.;GME_NEA=.;GME_AP=.;GME_Israel=.;GME_SD=.;GME_TP=.;GME_CA=.;cg46=0.033;cg69=0.036;cosmic70=.;nci60=.;ICGC_Id=.;ICGC_Occurrence=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;MutPred_score=.;MutPred_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;MCAP13=.;REVEL=.;regsnp_fpr=.;regsnp_disease=.;regsnp_splicing_site=.;gerp++elem=.;gerp++gt2=.;CADD13_RawScore=.;CADD13_PHRED=.;FATHMM_noncoding=.;FATHMM_coding=.;GWAVA_region_score=.;GWAVA_tss_score=.;GWAVA_unmatched_score=.;Eigen=.;phastConsElements46way=.;tfbsConsSites=.;cytoBand=1p36.33;wgRna=.;targetScanS=.;genomicSuperDups=.;dgvMerged=Name\x3desv2758911,nsv1013524,nsv10161,nsv1160644,nsv544895,nsv1160772,dgv2n67,esv2762302,dgv5n100,nsv950451,nsv482937,dgv19n54,nsv517709,nsv428334,nsv945741,nsv509146;gwasCatalog=.;wgEncodeRegTfbsClustered=.;InterVar_automated=.;PVS1=.;PS1=.;PS2=.;PS3=.;PS4=.;PM1=.;PM2=.;PM3=.;PM4=.;PM5=.;PM6=.;PP1=.;PP2=.;PP3=.;PP4=.;PP5=.;BA1=.;BS1=.;BS2=.;BS3=.;BS4=.;BP1=.;BP2=.;BP3=.;BP4=.;BP5=.;BP6=.;BP7=.;ALLELE_END GT:AD:DP:GQ:PL 1/.:0,11,6:17:99:643,167,116
chr1 974791 rs143039255 T TGGG 605.73 . AC=1;AF=0.5;AN=2;DB;DP=17;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;QD=35.63;SOR=0.804;OLD_MULTIALLELIC=chr1:974791:T/TGG/TGGG;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=AGRN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;Func.knownGene=intronic;Gene.knownGene=AGRN;GeneDetail.knownGene=.;ExonicFunc.knownGene=.;AAChange.knownGene=.;Func.ensGene=intronic;Gene.ensGene=ENSG00000188157;GeneDetail.ensGene=.;ExonicFunc.ensGene=.;AAChange.ensGene=.;avsnp150=rs36095704;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=0.3251;gnomAD_genome_AFR=0.3213;gnomAD_genome_AMR=0.2233;gnomAD_genome_ASJ=0.3431;gnomAD_genome_EAS=0.1838;gnomAD_genome_FIN=0.3722;gnomAD_genome_NFE=0.3382;gnomAD_genome_OTH=0.3306;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;ExAC_nonpsych_ALL=.;ExAC_nonpsych_AFR=.;ExAC_nonpsych_AMR=.;ExAC_nonpsych_EAS=.;ExAC_nonpsych_FIN=.;ExAC_nonpsych_NFE=.;ExAC_nonpsych_OTH=.;ExAC_nonpsych_SAS=.;1000g2015aug_all=.;1000g2015aug_eas=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_sas=.;1000g2015aug_eur=.;esp6500siv2_ea=.;esp6500siv2_aa=.;esp6500siv2_all=.;Kaviar_AF=0.0001153;Kaviar_AC=3;Kaviar_AN=26028;HRC_AF=.;HRC_AC=.;HRC_AN=.;HRC_non1000G_AF=.;HRC_non1000G_AC=.;HRC_non1000G_AN=.;abraom_freq=.;abraom_filter=.;abraom_cegh_filter=.;GME_AF=.;GME_NWA=.;GME_NEA=.;GME_AP=.;GME_Israel=.;GME_SD=.;GME_TP=.;GME_CA=.;cg46=0.022;cg69=0.014;cosmic70=.;nci60=.;ICGC_Id=.;ICGC_Occurrence=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;MutPred_score=.;MutPred_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;MCAP13=.;REVEL=.;regsnp_fpr=.;regsnp_disease=.;regsnp_splicing_site=.;gerp++elem=.;gerp++gt2=.;CADD13_RawScore=.;CADD13_PHRED=.;FATHMM_noncoding=.;FATHMM_coding=.;GWAVA_region_score=.;GWAVA_tss_score=.;GWAVA_unmatched_score=.;Eigen=.;phastConsElements46way=.;tfbsConsSites=.;cytoBand=1p36.33;wgRna=.;targetScanS=.;genomicSuperDups=.;dgvMerged=Name\x3desv2758911,nsv10161,nsv1160644,nsv1013524,nsv544895,dgv5n100,esv2762302,dgv2n67,nsv1160772,nsv950451,nsv482937,nsv517709,dgv19n54,nsv945741,nsv428334,nsv509146;gwasCatalog=.;wgEncodeRegTfbsClustered=.;InterVar_automated=.;PVS1=.;PS1=.;PS2=.;PS3=.;PS4=.;PM1=.;PM2=.;PM3=.;PM4=.;PM5=.;PM6=.;PP1=.;PP2=.;PP3=.;PP4=.;PP5=.;BA1=.;BS1=.;BS2=.;BS3=.;BS4=.;BP1=.;BP2=.;BP3=.;BP4=.;BP5=.;BP6=.;BP7=.;ALLELE_END GT:AD:DP:GQ:PL ./1:0,11,6:17:99:643,306,259
chr1 1200944 rs59721119 CGT C 359.73 . AC=1;AF=0.5;AN=2;DB;DP=20;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;QD=25.7;SOR=0.976;OLD_MULTIALLELIC=chr1:1200944:CGT/C/CGTGT;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=UBE2J2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;Func.knownGene=intronic;Gene.knownGene=UBE2J2;GeneDetail.knownGene=.;ExonicFunc.knownGene=.;AAChange.knownGene=.;Func.ensGene=intronic;Gene.ensGene=ENSG00000160087;GeneDetail.ensGene=.;ExonicFunc.ensGene=.;AAChange.ensGene=.;avsnp150=rs796983395;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=0.0477;gnomAD_genome_AFR=0.1247;gnomAD_genome_AMR=0.0179;gnomAD_genome_ASJ=0.0148;gnomAD_genome_EAS=0.0329;gnomAD_genome_FIN=0.0161;gnomAD_genome_NFE=0.0147;gnomAD_genome_OTH=0.0194;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;ExAC_nonpsych_ALL=.;ExAC_nonpsych_AFR=.;ExAC_nonpsych_AMR=.;ExAC_nonpsych_EAS=.;ExAC_nonpsych_FIN=.;ExAC_nonpsych_NFE=.;ExAC_nonpsych_OTH=.;ExAC_nonpsych_SAS=.;1000g2015aug_all=0.0694888;1000g2015aug_eas=0.0298;1000g2015aug_afr=0.152;1000g2015aug_amr=0.0346;1000g2015aug_sas=0.045;1000g2015aug_eur=0.0487;esp6500siv2_ea=.;esp6500siv2_aa=.;esp6500siv2_all=.;Kaviar_AF=0.0009605;Kaviar_AC=25;Kaviar_AN=26028;HRC_AF=.;HRC_AC=.;HRC_AN=.;HRC_non1000G_AF=.;HRC_non1000G_AC=.;HRC_non1000G_AN=.;abraom_freq=.;abraom_filter=.;abraom_cegh_filter=.;GME_AF=.;GME_NWA=.;GME_NEA=.;GME_AP=.;GME_Israel=.;GME_SD=.;GME_TP=.;GME_CA=.;cg46=.;cg69=.;cosmic70=.;nci60=.;ICGC_Id=.;ICGC_Occurrence=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;MutPred_score=.;MutPred_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;MCAP13=.;REVEL=.;regsnp_fpr=.;regsnp_disease=.;regsnp_splicing_site=.;gerp++elem=.;gerp++gt2=.;CADD13_RawScore=.;CADD13_PHRED=.;FATHMM_noncoding=.;FATHMM_coding=.;GWAVA_region_score=.;GWAVA_tss_score=.;GWAVA_unmatched_score=.;Eigen=.;phastConsElements46way=.;tfbsConsSites=.;cytoBand=1p36.33;wgRna=.;targetScanS=.;genomicSuperDups=.;dgvMerged=Name\x3desv2758912,nsv517709,nsv544964,nsv482937,nsv469848,nsv950452,nsv1003578,nsv544947,nsv470680,nsv10161,dgv2n67,nsv544965,nsv1160772,nsv455661,nsv817616;gwasCatalog=.;wgEncodeRegTfbsClustered=.;InterVar_automated=.;PVS1=.;PS1=.;PS2=.;PS3=.;PS4=.;PM1=.;PM2=.;PM3=.;PM4=.;PM5=.;PM6=.;PP1=.;PP2=.;PP3=.;PP4=.;PP5=.;BA1=.;BS1=.;BS2=.;BS3=.;BS4=.;BP1=.;BP2=.;BP3=.;BP4=.;BP5=.;BP6=.;BP7=.;ALLELE_END GT:AD:DP:GQ:PL 1/.:0,9,5:14:99:397,161,183
chr1 1200944 rs59721119 C CGT 359.73 . AC=1;AF=0.5;AN=2;DB;DP=20;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;QD=25.7;SOR=0.976;OLD_MULTIALLELIC=chr1:1200944:CGT/C/CGTGT;OLD_VARIANT=chr1:1200944:CGT/CGTGT;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=UBE2J2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;Func.knownGene=intronic;Gene.knownGene=UBE2J2;GeneDetail.knownGene=.;ExonicFunc.knownGene=.;AAChange.knownGene=.;Func.ensGene=intronic;Gene.ensGene=ENSG00000160087;GeneDetail.ensGene=.;ExonicFunc.ensGene=.;AAChange.ensGene=.;avsnp150=rs112951404;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=0.0705;gnomAD_genome_AFR=0.1076;gnomAD_genome_AMR=0.2134;gnomAD_genome_ASJ=0.0852;gnomAD_genome_EAS=0.0758;gnomAD_genome_FIN=0.0672;gnomAD_genome_NFE=0.0417;gnomAD_genome_OTH=0.0799;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;ExAC_nonpsych_ALL=.;ExAC_nonpsych_AFR=.;ExAC_nonpsych_AMR=.;ExAC_nonpsych_EAS=.;ExAC_nonpsych_FIN=.;ExAC_nonpsych_NFE=.;ExAC_nonpsych_OTH=.;ExAC_nonpsych_SAS=.;1000g2015aug_all=0.0816693;1000g2015aug_eas=0.1012;1000g2015aug_afr=0.118;1000g2015aug_amr=0.1643;1000g2015aug_sas=0.0215;1000g2015aug_eur=0.0159;esp6500siv2_ea=.;esp6500siv2_aa=.;esp6500siv2_all=.;Kaviar_AF=0.0001537;Kaviar_AC=4;Kaviar_AN=26028;HRC_AF=.;HRC_AC=.;HRC_AN=.;HRC_non1000G_AF=.;HRC_non1000G_AC=.;HRC_non1000G_AN=.;abraom_freq=.;abraom_filter=.;abraom_cegh_filter=.;GME_AF=.;GME_NWA=.;GME_NEA=.;GME_AP=.;GME_Israel=.;GME_SD=.;GME_TP=.;GME_CA=.;cg46=.;cg69=.;cosmic70=.;nci60=.;ICGC_Id=.;ICGC_Occurrence=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;MutPred_score=.;MutPred_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;MCAP13=.;REVEL=.;regsnp_fpr=.;regsnp_disease=.;regsnp_splicing_site=.;gerp++elem=.;gerp++gt2=.;CADD13_RawScore=.;CADD13_PHRED=.;FATHMM_noncoding=.;FATHMM_coding=.;GWAVA_region_score=.;GWAVA_tss_score=.;GWAVA_unmatched_score=.;Eigen=.;phastConsElements46way=.;tfbsConsSites=.;cytoBand=1p36.33;wgRna=.;targetScanS=.;genomicSuperDups=.;dgvMerged=Name\x3dnsv470680,nsv10161,dgv2n67,nsv544965,nsv1160772,nsv455661,nsv817616,esv2758912,nsv517709,nsv544964,nsv482937,nsv469848,nsv950452,nsv1003578,nsv544947;gwasCatalog=.;wgEncodeRegTfbsClustered=.;InterVar_automated=.;PVS1=.;PS1=.;PS2=.;PS3=.;PS4=.;PM1=.;PM2=.;PM3=.;PM4=.;PM5=.;PM6=.;PP1=.;PP2=.;PP3=.;PP4=.;PP5=.;BA1=.;BS1=.;BS2=.;BS3=.;BS4=.;BP1=.;BP2=.;BP3=.;BP4=.;BP5=.;BP6=.;BP7=.;ALLELE_END GT:AD:DP:GQ:PL ./1:0,9,5:14:99:397,272,328
chr1 1229111 . A ACGACCCTGCCCTGGAGGCCC 1005.73 . AC=1;AF=0.5;AN=2;DP=23;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=67.11;QD=100.57;SOR=0.693;OLD_MULTIALLELIC=chr1:1229111:A/ACGACCCTGCCCTGGAGGCCC/ACGACCCTGCCCTGGAGGCCCCGCCCCTGCCCTGGAGGCCC;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=ACAP3;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;Func.knownGene=intronic;Gene.knownGene=ACAP3;GeneDetail.knownGene=.;ExonicFunc.knownGene=.;AAChange.knownGene=.;Func.ensGene=intronic;Gene.ensGene=ENSG00000131584;GeneDetail.ensGene=.;ExonicFunc.ensGene=.;AAChange.ensGene=.;avsnp150=rs750358295;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gnomAD_exome_ALL=0.1679;gnomAD_exome_AFR=0.0291;gnomAD_exome_AMR=0.1569;gnomAD_exome_ASJ=0.0052;gnomAD_exome_EAS=0.6024;gnomAD_exome_FIN=0.0245;gnomAD_exome_NFE=0.0011;gnomAD_exome_OTH=0.1150;gnomAD_exome_SAS=0.1171;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;ExAC_ALL=0.0020;ExAC_AFR=0;ExAC_AMR=0;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=0;ExAC_OTH=.;ExAC_SAS=0.0028;ExAC_nontcga_ALL=0.0021;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=0.0028;ExAC_nonpsych_ALL=0.0020;ExAC_nonpsych_AFR=0;ExAC_nonpsych_AMR=0;ExAC_nonpsych_EAS=0;ExAC_nonpsych_FIN=.;ExAC_nonpsych_NFE=0;ExAC_nonpsych_OTH=.;ExAC_nonpsych_SAS=0.0028;1000g2015aug_all=.;1000g2015aug_eas=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_sas=.;1000g2015aug_eur=.;esp6500siv2_ea=.;esp6500siv2_aa=.;esp6500siv2_all=.;Kaviar_AF=0.0001358;Kaviar_AC=21;Kaviar_AN=154602;HRC_AF=.;HRC_AC=.;HRC_AN=.;HRC_non1000G_AF=.;HRC_non1000G_AC=.;HRC_non1000G_AN=.;abraom_freq=.;abraom_filter=.;abraom_cegh_filter=.;GME_AF=.;GME_NWA=.;GME_NEA=.;GME_AP=.;GME_Israel=.;GME_SD=.;GME_TP=.;GME_CA=.;cg46=.;cg69=.;cosmic70=.;nci60=.;ICGC_Id=.;ICGC_Occurrence=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;MutPred_score=.;MutPred_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;MCAP13=.;REVEL=.;regsnp_fpr=.;regsnp_disease=.;regsnp_splicing_site=.;gerp++elem=.;gerp++gt2=.;CADD13_RawScore=.;CADD13_PHRED=.;FATHMM_noncoding=.;FATHMM_coding=.;GWAVA_region_score=.;GWAVA_tss_score=.;GWAVA_unmatched_score=.;Eigen=.;phastConsElements46way=.;tfbsConsSites=.;cytoBand=1p36.33;wgRna=.;targetScanS=.;genomicSuperDups=.;dgvMerged=Name\x3dnsv544969,nsv544947,dgv25n54,nsv482937,nsv950452,nsv469848,esv2758912,nsv817616,nsv1160788,nsv1160772,dgv2n67,nsv544965,nsv1000169,nsv470680,nsv10161;gwasCatalog=.;wgEncodeRegTfbsClustered=Name\x3dE2F6_(H-50),E2F6,CCNT2;InterVar_automated=.;PVS1=.;PS1=.;PS2=.;PS3=.;PS4=.;PM1=.;PM2=.;PM3=.;PM4=.;PM5=.;PM6=.;PP1=.;PP2=.;PP3=.;PP4=.;PP5=.;BA1=.;BS1=.;BS2=.;BS3=.;BS4=.;BP1=.;BP2=.;BP3=.;BP4=.;BP5=.;BP6=.;BP7=.;ALLELE_END GT:AD:DP:GQ:PL 1/.:0,6,4:10:99:1043,254,188
chr1 1229111 . A ACGACCCTGCCCTGGAGGCCCCGCCCCTGCCCTGGAGGCCC 1005.73 . AC=1;AF=0.5;AN=2;DP=23;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=67.11;QD=100.57;SOR=0.693;OLD_MULTIALLELIC=chr1:1229111:A/ACGACCCTGCCCTGGAGGCCC/ACGACCCTGCCCTGGAGGCCCCGCCCCTGCCCTGGAGGCCC;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=ACAP3;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;Func.knownGene=intronic;Gene.knownGene=ACAP3;GeneDetail.knownGene=.;ExonicFunc.knownGene=.;AAChange.knownGene=.;Func.ensGene=intronic;Gene.ensGene=ENSG00000131584;GeneDetail.ensGene=.;ExonicFunc.ensGene=.;AAChange.ensGene=.;avsnp150=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gnomAD_exome_ALL=0.0019;gnomAD_exome_AFR=0;gnomAD_exome_AMR=0;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0.0106;gnomAD_exome_FIN=0.0049;gnomAD_exome_NFE=0;gnomAD_exome_OTH=0;gnomAD_exome_SAS=0;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;ExAC_nonpsych_ALL=.;ExAC_nonpsych_AFR=.;ExAC_nonpsych_AMR=.;ExAC_nonpsych_EAS=.;ExAC_nonpsych_FIN=.;ExAC_nonpsych_NFE=.;ExAC_nonpsych_OTH=.;ExAC_nonpsych_SAS=.;1000g2015aug_all=.;1000g2015aug_eas=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_sas=.;1000g2015aug_eur=.;esp6500siv2_ea=.;esp6500siv2_aa=.;esp6500siv2_all=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;HRC_AF=.;HRC_AC=.;HRC_AN=.;HRC_non1000G_AF=.;HRC_non1000G_AC=.;HRC_non1000G_AN=.;abraom_freq=0.108974;abraom_filter=VQSRTrancheINDEL99.00to99.90;abraom_cegh_filter=FDP;GME_AF=.;GME_NWA=.;GME_NEA=.;GME_AP=.;GME_Israel=.;GME_SD=.;GME_TP=.;GME_CA=.;cg46=.;cg69=.;cosmic70=.;nci60=.;ICGC_Id=.;ICGC_Occurrence=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;MutPred_score=.;MutPred_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;MCAP13=.;REVEL=.;regsnp_fpr=.;regsnp_disease=.;regsnp_splicing_site=.;gerp++elem=.;gerp++gt2=.;CADD13_RawScore=.;CADD13_PHRED=.;FATHMM_noncoding=.;FATHMM_coding=.;GWAVA_region_score=.;GWAVA_tss_score=.;GWAVA_unmatched_score=.;Eigen=.;phastConsElements46way=.;tfbsConsSites=.;cytoBand=1p36.33;wgRna=.;targetScanS=.;genomicSuperDups=.;dgvMerged=Name\x3dnsv544947,dgv25n54,nsv544969,esv2758912,nsv950452,nsv469848,nsv482937,nsv1160772,dgv2n67,nsv544965,nsv817616,nsv1160788,nsv10161,nsv1000169,nsv470680;gwasCatalog=.;wgEncodeRegTfbsClustered=Name\x3dE2F6_(H-50),CCNT2,E2F6;InterVar_automated=.;PVS1=.;PS1=.;PS2=.;PS3=.;PS4=.;PM1=.;PM2=.;PM3=.;PM4=.;PM5=.;PM6=.;PP1=.;PP2=.;PP3=.;PP4=.;PP5=.;BA1=.;BS1=.;BS2=.;BS3=.;BS4=.;BP1=.;BP2=.;BP3=.;BP4=.;BP5=.;BP6=.;BP7=.;ALLELE_END GT:AD:DP:GQ:PL ./1:0,6,4:10:99:1043,301,238
chr1 1390514 rs1695865 T A 506.77 . AC=1;AF=0.5;AN=2;DB;DP=19;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=59.06;QD=26.67;SOR=1.981;OLD_MULTIALLELIC=chr1:1390514:T/A/G;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=ATAD3C;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;Func.knownGene=intronic;Gene.knownGene=ATAD3C;GeneDetail.knownGene=.;ExonicFunc.knownGene=.;AAChange.knownGene=.;Func.ensGene=intronic;Gene.ensGene=ENSG00000215915;GeneDetail.ensGene=.;ExonicFunc.ensGene=.;AAChange.ensGene=.;avsnp150=rs1695865;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=0.1225;gnomAD_genome_AFR=0.2927;gnomAD_genome_AMR=0.1118;gnomAD_genome_ASJ=0.0306;gnomAD_genome_EAS=0.4856;gnomAD_genome_FIN=0.0244;gnomAD_genome_NFE=0.0088;gnomAD_genome_OTH=0.0700;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;ExAC_nonpsych_ALL=.;ExAC_nonpsych_AFR=.;ExAC_nonpsych_AMR=.;ExAC_nonpsych_EAS=.;ExAC_nonpsych_FIN=.;ExAC_nonpsych_NFE=.;ExAC_nonpsych_OTH=.;ExAC_nonpsych_SAS=.;1000g2015aug_all=0.251398;1000g2015aug_eas=0.4871;1000g2015aug_afr=0.3533;1000g2015aug_amr=0.1297;1000g2015aug_sas=0.2106;1000g2015aug_eur=0.005;esp6500siv2_ea=.;esp6500siv2_aa=.;esp6500siv2_all=.;Kaviar_AF=0.0905947;Kaviar_AC=2358;Kaviar_AN=26028;HRC_AF=.;HRC_AC=.;HRC_AN=.;HRC_non1000G_AF=.;HRC_non1000G_AC=.;HRC_non1000G_AN=.;abraom_freq=.;abraom_filter=.;abraom_cegh_filter=.;GME_AF=.;GME_NWA=.;GME_NEA=.;GME_AP=.;GME_Israel=.;GME_SD=.;GME_TP=.;GME_CA=.;cg46=0.239;cg69=0.174;cosmic70=.;nci60=.;ICGC_Id=.;ICGC_Occurrence=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;MutPred_score=.;MutPred_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;MCAP13=.;REVEL=.;regsnp_fpr=.;regsnp_disease=.;regsnp_splicing_site=.;gerp++elem=.;gerp++gt2=.;CADD13_RawScore=0.105920;CADD13_PHRED=3.671;FATHMM_noncoding=0.03508;FATHMM_coding=0.00052;GWAVA_region_score=0.2;GWAVA_tss_score=0.16;GWAVA_unmatched_score=182;Eigen=-0.8867;phastConsElements46way=.;tfbsConsSites=.;cytoBand=1p36.33;wgRna=.;targetScanS=.;genomicSuperDups=.;dgvMerged=Name\x3dnsv482937,esv2758913,nsv950452,nsv945742,nsv545000,nsv1011818,dgv34n54,nsv482135,esv3584995,nsv10161,esv3577672,nsv1009541,nsv545001;gwasCatalog=.;wgEncodeRegTfbsClustered=.;InterVar_automated=.;PVS1=.;PS1=.;PS2=.;PS3=.;PS4=.;PM1=.;PM2=.;PM3=.;PM4=.;PM5=.;PM6=.;PP1=.;PP2=.;PP3=.;PP4=.;PP5=.;BA1=.;BS1=.;BS2=.;BS3=.;BS4=.;BP1=.;BP2=.;BP3=.;BP4=.;BP5=.;BP6=.;BP7=.;ALLELE_END GT:AD:DP:GQ:PL 1/.:0,10,9:19:99:535,231,201
chr1 1390514 rs1695865 T G 506.77 . AC=1;AF=0.5;AN=2;DB;DP=19;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=59.06;QD=26.67;SOR=1.981;OLD_MULTIALLELIC=chr1:1390514:T/A/G;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=ATAD3C;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;Func.knownGene=intronic;Gene.knownGene=ATAD3C;GeneDetail.knownGene=.;ExonicFunc.knownGene=.;AAChange.knownGene=.;Func.ensGene=intronic;Gene.ensGene=ENSG00000215915;GeneDetail.ensGene=.;ExonicFunc.ensGene=.;AAChange.ensGene=.;avsnp150=rs1695865;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=0.3107;gnomAD_genome_AFR=0.4953;gnomAD_genome_AMR=0.4963;gnomAD_genome_ASJ=0.2313;gnomAD_genome_EAS=0.5113;gnomAD_genome_FIN=0.2855;gnomAD_genome_NFE=0.1791;gnomAD_genome_OTH=0.2560;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;ExAC_nonpsych_ALL=.;ExAC_nonpsych_AFR=.;ExAC_nonpsych_AMR=.;ExAC_nonpsych_EAS=.;ExAC_nonpsych_FIN=.;ExAC_nonpsych_NFE=.;ExAC_nonpsych_OTH=.;ExAC_nonpsych_SAS=.;1000g2015aug_all=0.427915;1000g2015aug_eas=0.503;1000g2015aug_afr=0.5363;1000g2015aug_amr=0.4366;1000g2015aug_sas=0.4448;1000g2015aug_eur=0.1879;esp6500siv2_ea=.;esp6500siv2_aa=.;esp6500siv2_all=.;Kaviar_AF=0.260604;Kaviar_AC=6783;Kaviar_AN=26028;HRC_AF=.;HRC_AC=.;HRC_AN=.;HRC_non1000G_AF=.;HRC_non1000G_AC=.;HRC_non1000G_AN=.;abraom_freq=.;abraom_filter=.;abraom_cegh_filter=.;GME_AF=.;GME_NWA=.;GME_NEA=.;GME_AP=.;GME_Israel=.;GME_SD=.;GME_TP=.;GME_CA=.;cg46=0.424;cg69=0.384;cosmic70=.;nci60=.;ICGC_Id=.;ICGC_Occurrence=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;MutPred_score=.;MutPred_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;MCAP13=.;REVEL=.;regsnp_fpr=.;regsnp_disease=.;regsnp_splicing_site=.;gerp++elem=.;gerp++gt2=.;CADD13_RawScore=-0.068154;CADD13_PHRED=1.979;FATHMM_noncoding=0.02635;FATHMM_coding=0.00012;GWAVA_region_score=0.2;GWAVA_tss_score=0.16;GWAVA_unmatched_score=182;Eigen=-0.8867;phastConsElements46way=.;tfbsConsSites=.;cytoBand=1p36.33;wgRna=.;targetScanS=.;genomicSuperDups=.;dgvMerged=Name\x3dnsv545000,nsv945742,esv2758913,nsv950452,nsv482937,dgv34n54,nsv1011818,esv3577672,nsv10161,nsv482135,esv3584995,nsv545001,nsv1009541;gwasCatalog=.;wgEncodeRegTfbsClustered=.;InterVar_automated=.;PVS1=.;PS1=.;PS2=.;PS3=.;PS4=.;PM1=.;PM2=.;PM3=.;PM4=.;PM5=.;PM6=.;PP1=.;PP2=.;PP3=.;PP4=.;PP5=.;BA1=.;BS1=.;BS2=.;BS3=.;BS4=.;BP1=.;BP2=.;BP3=.;BP4=.;BP5=.;BP6=.;BP7=.;ALLELE_END GT:AD:DP:GQ:PL ./1:0,10,9:19:99:535,304,277
chr1 1524540 rs369310977 TTTTATTTA T 339.73 . AC=1;AF=0.5;AN=2;DB;DP=22;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60.49;QD=30.88;SOR=1.27;OLD_MULTIALLELIC=chr1:1524540:TTTTATTTA/T/TTTTATTTATTTA;ANNOVAR_DATE=2018-04-16;Func.refGene=intergenic;Gene.refGene=SSU72\x3bFNDC10;GeneDetail.refGene=dist\x3d14279\x3bdist\x3d8840;ExonicFunc.refGene=.;AAChange.refGene=.;Func.knownGene=intergenic;Gene.knownGene=HP08716\x3bC1orf233;GeneDetail.knownGene=dist\x3d13897\x3bdist\x3d8840;ExonicFunc.knownGene=.;AAChange.knownGene=.;Func.ensGene=intergenic;Gene.ensGene=ENSG00000236684\x3bENSG00000228594;GeneDetail.ensGene=dist\x3d9162\x3bdist\x3d8844;ExonicFunc.ensGene=.;AAChange.ensGene=.;avsnp150=rs369310977;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=0.0469;gnomAD_genome_AFR=0.1477;gnomAD_genome_AMR=0.0075;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0014;gnomAD_genome_NFE=0.0011;gnomAD_genome_OTH=0.0199;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;ExAC_nonpsych_ALL=.;ExAC_nonpsych_AFR=.;ExAC_nonpsych_AMR=.;ExAC_nonpsych_EAS=.;ExAC_nonpsych_FIN=.;ExAC_nonpsych_NFE=.;ExAC_nonpsych_OTH=.;ExAC_nonpsych_SAS=.;1000g2015aug_all=.;1000g2015aug_eas=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_sas=.;1000g2015aug_eur=.;esp6500siv2_ea=.;esp6500siv2_aa=.;esp6500siv2_all=.;Kaviar_AF=0.0003842;Kaviar_AC=10;Kaviar_AN=26028;HRC_AF=.;HRC_AC=.;HRC_AN=.;HRC_non1000G_AF=.;HRC_non1000G_AC=.;HRC_non1000G_AN=.;abraom_freq=.;abraom_filter=.;abraom_cegh_filter=.;GME_AF=.;GME_NWA=.;GME_NEA=.;GME_AP=.;GME_Israel=.;GME_SD=.;GME_TP=.;GME_CA=.;cg46=.;cg69=.;cosmic70=.;nci60=.;ICGC_Id=.;ICGC_Occurrence=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;MutPred_score=.;MutPred_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;MCAP13=.;REVEL=.;regsnp_fpr=.;regsnp_disease=.;regsnp_splicing_site=.;gerp++elem=.;gerp++gt2=.;CADD13_RawScore=.;CADD13_PHRED=.;FATHMM_noncoding=.;FATHMM_coding=.;GWAVA_region_score=.;GWAVA_tss_score=.;GWAVA_unmatched_score=.;Eigen=.;phastConsElements46way=.;tfbsConsSites=.;cytoBand=1p36.33;wgRna=.;targetScanS=.;genomicSuperDups=.;dgvMerged=Name\x3desv3585006,esv2760410,dgv8n100,nsv950452,esv2758913,nsv482937,dgv5n111,nsv1160797,nsv10161,esv2677356;gwasCatalog=.;wgEncodeRegTfbsClustered=.;InterVar_automated=.;PVS1=.;PS1=.;PS2=.;PS3=.;PS4=.;PM1=.;PM2=.;PM3=.;PM4=.;PM5=.;PM6=.;PP1=.;PP2=.;PP3=.;PP4=.;PP5=.;BA1=.;BS1=.;BS2=.;BS3=.;BS4=.;BP1=.;BP2=.;BP3=.;BP4=.;BP5=.;BP6=.;BP7=.;ALLELE_END GT:AD:DP:GQ:PL 1/.:0,7,4:11:99:377,135,145
chr1 1524540 rs369310977 T TTTTA 339.73 . AC=1;AF=0.5;AN=2;DB;DP=22;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60.49;QD=30.88;SOR=1.27;OLD_MULTIALLELIC=chr1:1524540:TTTTATTTA/T/TTTTATTTATTTA;OLD_VARIANT=chr1:1524540:TTTTATTTA/TTTTATTTATTTA;ANNOVAR_DATE=2018-04-16;Func.refGene=intergenic;Gene.refGene=SSU72\x3bFNDC10;GeneDetail.refGene=dist\x3d14278\x3bdist\x3d8848;ExonicFunc.refGene=.;AAChange.refGene=.;Func.knownGene=intergenic;Gene.knownGene=HP08716\x3bC1orf233;GeneDetail.knownGene=dist\x3d13896\x3bdist\x3d8848;ExonicFunc.knownGene=.;AAChange.knownGene=.;Func.ensGene=intergenic;Gene.ensGene=ENSG00000236684\x3bENSG00000228594;GeneDetail.ensGene=dist\x3d9161\x3bdist\x3d8852;ExonicFunc.ensGene=.;AAChange.ensGene=.;avsnp150=rs200880264;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=0.0495;gnomAD_genome_AFR=0.0411;gnomAD_genome_AMR=0.0725;gnomAD_genome_ASJ=0.0126;gnomAD_genome_EAS=0.2849;gnomAD_genome_FIN=0.0165;gnomAD_genome_NFE=0.0291;gnomAD_genome_OTH=0.0563;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;ExAC_nonpsych_ALL=.;ExAC_nonpsych_AFR=.;ExAC_nonpsych_AMR=.;ExAC_nonpsych_EAS=.;ExAC_nonpsych_FIN=.;ExAC_nonpsych_NFE=.;ExAC_nonpsych_OTH=.;ExAC_nonpsych_SAS=.;1000g2015aug_all=.;1000g2015aug_eas=.;1000g2015aug_afr=.;1000g2015aug_amr=.;1000g2015aug_sas=.;1000g2015aug_eur=.;esp6500siv2_ea=.;esp6500siv2_aa=.;esp6500siv2_all=.;Kaviar_AF=0.0013831;Kaviar_AC=36;Kaviar_AN=26028;HRC_AF=.;HRC_AC=.;HRC_AN=.;HRC_non1000G_AF=.;HRC_non1000G_AC=.;HRC_non1000G_AN=.;abraom_freq=.;abraom_filter=.;abraom_cegh_filter=.;GME_AF=.;GME_NWA=.;GME_NEA=.;GME_AP=.;GME_Israel=.;GME_SD=.;GME_TP=.;GME_CA=.;cg46=.;cg69=.;cosmic70=.;nci60=.;ICGC_Id=.;ICGC_Occurrence=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;MutPred_score=.;MutPred_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;MCAP13=.;REVEL=.;regsnp_fpr=.;regsnp_disease=.;regsnp_splicing_site=.;gerp++elem=.;gerp++gt2=.;CADD13_RawScore=.;CADD13_PHRED=.;FATHMM_noncoding=.;FATHMM_coding=.;GWAVA_region_score=.;GWAVA_tss_score=.;GWAVA_unmatched_score=.;Eigen=.;phastConsElements46way=.;tfbsConsSites=.;cytoBand=1p36.33;wgRna=.;targetScanS=.;genomicSuperDups=.;dgvMerged=Name\x3desv2677356,nsv10161,dgv5n111,nsv1160797,dgv8n100,nsv950452,esv2758913,nsv482937,esv2760410,esv3585006;gwasCatalog=.;wgEncodeRegTfbsClustered=.;InterVar_automated=.;PVS1=.;PS1=.;PS2=.;PS3=.;PS4=.;PM1=.;PM2=.;PM3=.;PM4=.;PM5=.;PM6=.;PP1=.;PP2=.;PP3=.;PP4=.;PP5=.;BA1=.;BS1=.;BS2=.;BS3=.;BS4=.;BP1=.;BP2=.;BP3=.;BP4=.;BP5=.;BP6=.;BP7=.;ALLELE_END GT:AD:DP:GQ:PL ./1:0,7,4:11:99:377,247,236